Malattie Rare in Età Pediatrica: Ricerca Clinica, Farmaci Orfani E Reti Europee Di Riferimento

Malattie rare in età pediatrica: Ricerca clinica, farmaci orfani e reti europee di riferimento

A cura della Società Italiana di Ricerca Pediatrica

Consiglio Direttivo SIRP Onlus

Presidente Generoso Andria Past President Francesco Chiarelli Vice Presidente Angelika Anna Mohn Segretario Raffaele Badolato Tesoriere Luigi Maiuri Consiglieri Alessandro Aiuti Silvano Bertelloni Loredana M. Marcovecchio Claudio Pignata Giusy Ranucci Angelo Ravelli Martino Ruggieri

INDICE

Elenco Autori e Collaboratori 4

Prefazione 5

Guida alla lettura dei database 6 Tavola Rotonda: La ricerca clinica italiana per le malattie rare in età pediatrica 8

Malattie emato-oncologiche pediatriche 9

Malattie nefrologiche pediatriche 88

Malattie immunologiche pediatriche 143

Fibrosi cistica 163

Malattie respiratorie infantili 178

Malattie endocrinologiche pediatriche 190

Malattie metaboliche ereditarie 256

Malattie gastroenterologiche e epatologiche pediatriche 299

Malattie genetiche pediatriche e sindromi malformative 316

Malattie neurologiche e neuromuscolari pediatriche 344

Malattie reumatologiche pediatriche 385

Malattie cardiologiche pediatriche 414

3 Elenco Autori e Collaboratori

Carlo Agostoni, Milano Francesco Emma, Roma Rita Ortolano, Bologna Alessandro Aiuti, Milano Franca Fagioli, Torino C. Pantaleoni, Milano Enrico Alfei, Milano Claudio Favre, Firenze Carmine Pecoraro, Napoli Generoso Andria, Napoli Giovan Battista Ferrero, Torino Silverio Perrotta, Napoli Antonio Balsamo, Bologna Anna Ficcadenti, Ancona Maria Piccione, Palermo Andrea Bartuli, Roma Rita Fischetto, Bari Antonio Piga, Torino Maria Francesca Bedeschi, Milano Agata Fiumara, Catania Claudio Pignata, Napoli Loredana Borrone, Cagliari Gianluca Forni, Genova Alessandro Plebani, Brescia Mara Cananzi, Padova Orazio Gabrielli, Ancona Francesco Porta, Torino Marco Cappa, Roma Livia Garavelli, Reggio Emilia Valeria Raia, Napoli Marco Castori, Roma Marco Gattorno, Genova A. Ranieri, Siena Mauro Celli, Roma Fiorina Giona, Roma Giusy Ranucci Napoli Franco Cerutti, Torino Paola Giordano, Bari Angelo Ravelli Genova Luciana Chessa, Roma Mario Giuffrè, Palermo Carmelo Rizzari, Monza Francesco Chiarelli, Chieti Simona Graziani, Roma Carlo Rizzo, Roma Lorenda Chini, Roma Graziano Grugni, Oggebbio (VB) Francesca Rocchi, Roma Giovanni Cioni, Pisa Renzo Guerrini, Firenze Corrado Romano, Enna Guido Cocchi, Bologna Vincenzo Leuzzi, Roma Anna Rosati, Firenze Raffaella Colombatti, Padova Giuseppe Limongelli, Napoli M.Giovanna Russo, Napoli Daniela Concolino, Catanzaro Diego Martinelli, Roma Lucia Santoro, Ancona Giovanni Corsello, Palermo Nicoletta Masera, Monza Salvatore Savasta, Pavia Stefano D’Arrigo, Milano Laura Mazzanti, Bologna Pietro Strisciuglio, Napoli Roberto Della Casa, Napoli Daniela Melis, Napoli Luigi Tarani, Roma Daniele De Brasi, Napoli Carlo Minetti, Genova Alberto Tommasini, Trieste Salvatore De Masi, Firenze Francesca Minoia, Genova Diletta Valentini, Roma Federica Deodato, Roma William Morello, Milano Giuseppe Zampino, Roma Maria Cristina Digilio, Roma Viviana Moschese, Roma Marco Zecca, Pavia Carlo Dionisi Vici, Roma Luisa Murer, Padova Carlo Dufour, Genova Gabriella Nebbia, Milano

Prefazione

Generoso Andria Presidente SIRP

A distanza di un anno dal Forum sul futuro della ricerca clinica (non solo collaborazione della comunità scientifica, non soltanto pediatrica, per pediatrica)*, la SIRP, in collaborazione con la FIARPED e la SIP, propone una correzioni, integrazioni, commenti. nuova riflessione, focalizzata sulla ricerca nel campo delle malattie rare in età evolutiva. E quasi pleonastico sottolineare che anche per questo gruppo di malattie la qualità dell'assistenza dipende dalla qualità della ricerca scientifica e clinica. Le malattie rare rappresentano un settore della medicina non solo di Da pochi mesi si è arrivati alla istituzione di reti europee di riferimento crescente interesse per il sistema sanitario, ma anche molto fertile per (ERN) per oltre 20 gruppi di malattie rare e ci è sembrato utile fare anche il l'attività scientifica, sia con lo studio delle loro basi fisiopatologiche, sia con punto sulla partecipazione alle ERN dei centri pediatrici italiani, di fatto lo sviluppo di approcci terapeutici innovativi attraverso sperimentazioni cooptati come membri, tra l'altro, per l'eccellenza della loro produttività cliniche di farmaci orfani. scientifica. L'auspicio è che analoghe reti per le varie specialità si possono costituire, o rafforzare se già esistenti, anche in Italia. In coerenza col servizio che la SIRP intende svolgere attraverso il suo Osservatorio della ricerca pediatrica italiana, è stato organizzato A Napoli, Un commento finale sul quadro scelto come logo del Forum e come nei giorni 29 e 30 giugno 2017, un Forum che rappresenta l'avvio di un copertina di questo Libro bianco. Il ragazzo che, da solo, rema con foga e monitoraggio dell'attività scientifica dei centri italiani e della loro con un sorriso verso la spiaggia inondata dal sole, illustra efficacemente partecipazione a trial clinici nel settore delle malattie rare in età evolutiva. quanto, come medici, auguriamo ai nostri piccoli pazienti: che assumano È stato quindi impostato un catalogo sullo stato della ricerca pediatrica per sempre maggiore responsabilità, in prima persona insieme alle famiglie, le patologie rare, coinvolgendo numerose società scientifiche e gruppi di nella gestione della loro malattia, per raggiungere l'approdo di migliori studio per le aree specialistiche di competenza, che monitorerà le attività condizioni di salute e qualità di vita. rivolte alle patologie rare. Sarà un work in progress, aperto alla Napoli, 29 giugno 2017

* Il futuro della ricerca clinica (pediatrica), Giannini Editore, Napoli (2016)

Guida alla lettura dei database 1. Lavori registrati in PubMed e pubblicati a partire dal 1 gennaio 2014 ad oggi per Malattie Rare dell'area specialistica con ruolo leader dell'Unità operativa (primo autore e/o autore corrispondente)

Istruzioni per la compilazione della tabella

1: indicare il nome della malattia o del gruppo di malattie rare oggetto del lavoro 2: indicare i nomi di tutti gli autori (in grassetto il nome del primo autore e/o dell’autore corrispondente) 3: indicare il titolo completo del lavoro 4: indicare il nome della rivista, il volume e le pagine 5: indicare l’anno di pubblicazione 6: indicare l’Impact Factor della rivista (scrivere 0, se non assegnato) 7: scrivere eventuali note

1 2 3 4 5 6 7 Rivista, volume, Nome MR Autori Titolo del lavoro Anno I. F. Note pagine

N.B. nella versione online è possibile effettuare delle ricerche con parole chiave (autori, riviste, società scientifiche etc.)

2. Trial clinici per farmaci orfani per Malattie Rare dell'area specialistica con partecipazione dell'Unità operativa

Istruzioni per la compilazione della tabella

1: indicare il nome della malattia o del gruppo di malattie rare, oggetto del trial 2: indicare il nome dell’industria o dello sponsor indipendente 3: indicare con I se Internazionale, con N se Nazionale (scrivere X nella casella corrispondente) 4: indicare il ruolo dell’U.O. nel trial con C se Coordinatore, con P se Partecipante (scrivere X nella casella corrispondente) 5: indicare la del trial 6: indicare il nome del farmaco orfano sperimentale 7: indicare con C se il trial è ancora in corso, con T se il trial è terminato dopo il 1 gennaio del 2014, scrivendo in parentesi l’anno della fine (scrivere X nella casella corrispondente) 8: scrivere eventuali note

1 2 3 4 5 6 7 8

Partners Ruolo Durata

Nome MR Sponsor Denominazione del trial Farmaco Note

I N C P C T (anno)

N.B. nella versione online è possibile effettuare delle ricerche con parole chiave

TAVOLA ROTONDA La ricerca clinica italiana per le malattie rare in età pediatrica (in collaborazione con la rivista Prospettive in Pediatria)

Moderatore: Generoso Andria

Partecipanti: Renza Barbon Galluppi Bruno Dallapiccola Lucia Monaco Ugo Capolino Perlingieri Maurizio Scarpa Domenica Taruscio

Temi:

 L’attività scientifica del Centro di coordinamento nazionale malattie rare per le patologie pediatriche  Lo stato della ricerca per le malattie rare nei centri pediatrici nazionali  La ricerca indipendente promossa da Telethon per le malattie genetiche rare  Il ruolo dell’industria nello sviluppo dei farmaci orfani per le malattie rare  Le reti europee per le malattie rare: censimento delle reti attive, criticità e prospettive  Il ruolo delle Associazioni di pazienti per la ricerca sulle malattie rare pediatriche

Malattie rare in età pediatrica: Ricerca, farmaci orfani e reti europee di riferimento

Malattie emato-oncologiche pediatriche A cura della Società Italiana di Ematologia e Oncologia Pediatrica - AIEOP (Presidente: Franca Fagioli)

Franca Fagioli Silverio Perrotta Carmelo Rizzari Marco Zecca

Pubblicazioni Malattie oncoematologiche pediatriche: pubblicazioni dei gruppi italiani in ambito di tumori rari pediatrici

Marco Zecca Oncoematologia Pediatrica, Fondazione Policlinico San Matteo, Pavia; Associazione Italiana di Oncoematologia Pediatrica

La Società Italiana di Ricerca Pediatrica ha avviato un’attività di survey Considerando le singole patologie, le pubblicazioni più numerose sono state relativa ad aspetti che riguardano il networking, la conduzione di studi osservate nell’ambito delle leucemie (75 pubblicazioni), seguite dalla clinici e la ricerca in ambito di malattie rare pediatriche. Scopo di questo produzione nell’ambito del neuroblastoma (26 pubblicazioni), dei sarcomi documento è di illustrare l’attività in progress della creazione di un dei tessuti molli (24 pubblicazioni), dei linfomi (16 pubblicazioni) e dei database che raccoglie i contributi pubblicativi dei centri pediatrici italiani tumori del sistema nervoso centrale (15 pubblicazioni). Per quanto che operano nel campo oncoematologico pediatrico. concerne la qualità delle pubblicazioni, l’impact factor totale è di 1060 punti, con un impact factor mediano di 3,2 punti (range 0,6-26,50). Per quanto concerne l’attività pubblicativa in ambito di neoplasie oncoematologiche, i dati inseriti nel database sono stati ottenuti attraverso una Sul totale delle registrazioni, 39 (15%) erano pubblicazioni dell’Associazione ricerca sulla piattaforma PubMed, inserendo quali parole chiave pediatric Italiana di Oncoematologia Pediatrica (pubblicazioni cooperative/linee hemato oncology and Italy, e selezionando le pubblicazioni inerenti a guida dei Gruppi di Lavoro AIEOP; ricerca sulla piattaforma PubMed con patologia tumorale con primo/ultimo nome o corresponding author un parole chiave AIEOP nel titolo o nell’elenco autori). L’impact factor mediano autore afferente ad un centro italiano. La ricerca è stata chiusa al 31 di queste pubblicazioni è di 4,46 punti, superiore alla media dei lavori maggio 2017. censiti all’interno del database.

Gli inserimenti nel database sono stati 262, distribuiti nelle seguenti Circa il 50% delle pubblicazioni incluse nel database sono il risultato di categorie: 93 pubblicazioni focalizzati su neoplasie ematologiche, 123 lavori cooperativi sia italiani che internazionali, a testimonianza della pubblicazioni riguardanti tumori solidi e 46 lavori di tema trasversale alle notevole attività collaborativa dei network nazionali ed europei patologie neoplastiche (i.e. epidemiologia, fattori di rischio, infettivologia). oncoematologici pediatrici.

Pubblicazioni: Malattie oncoematologiche pediatriche 1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Adrenocortical Cerquetti L, Sampaoli C, De Salvo M, C-MYC modulation induces Int J Oncol. 46(5):2231-40. 2015 3,03 tumors Bucci B, Argese N, Chimento A, Vottari responsiveness to paclitaxel in S, Marchese R, Pezzi V, Toscano V, adrenocortical cancer cell lines Stigliano A Adrenocortical Dall'Igna P, Virgone C, De Salvo G, Adrenocortical tumors in Italian J Pediatr Surg. 49(9):1367-71. 2014 1,31 tumors Bertorelle R, Indolfi P, De Paoli A, Buffa children: Analysis of clinical P, Conte M, Esposito G, Inserra A, characteristics and P53 status. Data Candiotto C, D'Onofrio V, Boldrini R, from the national registries Ferrari A, Bisogno G, Alaggio R, Cecchetto G Adrenocortical Giovannoni I, Boldrini R, Benedetti MC, Pediatric adrenocortical Pediatr Res. 81(3):468-472. 2017 2,76 tumors Inserra A, De Pasquale MD, Francalanci neoplasms: immunohistochemical P expression of p57 identifies loss of heterozygosity and abnormal imprinting of the 11p15.5 Ependymoma Massimino M, Miceli R, Giangaspero F, Final results of the second Neuro Oncol. 18(10):1451-60. 2016 7,37 AIEOP Boschetti L, Modena P, Antonelli M, prospective AIEOP protocol for Ferroli P, Bertin D, Pecori E, Valentini L, pediatric intracranial ependymoma Biassoni V, Garrè ML, Schiavello E, Sardi I, Cama A, Viscardi E, Scarzello G, Scoccianti S, Mascarin M, Quaglietta L, Cinalli G, Diletto B, Genitori L, Peretta P, Mussano A, Buccoliero A, Calareso G, Barra S, Mastronuzzi A, Giussani C, Marras CE, Balter R, Bertolini P, Giombelli E, La Spina M, Buttarelli FR, Pollo B, Gandola L

Ependymoma Roma D, Palma P, Capolino R, Figà- Spinal ependymoma in a patient BMC Med Genet. 16:80. 2015 2,08 Talamanca L, Diomedi-Camassei F, with Kabuki syndrome: A case Lepri FR, Digilio MC, Marras CE, report Messina R, Carai A, Randi F, Mastronuzzi A Glioblastoma Cacchione A, Mastronuzzi A, Cefalo Pediatric spinal glioblastoma of the Chin J Cancer. 35:44. 2016 2,81 MG, Colafati GS, Diomedi-Camassei F, conus medullaris: a case report of Rizzi M, De Benedictis A, Carai A long survival Glioblastoma Del Fattore A, Luciano R, Saracino R, Differential effects of extracellular Expert Opin Biol Ther. 15(4):495- 2015 3,43 Battafarano G, Rizzo C, Pascucci L, vesicles secreted by mesenchymal 504. Alessandri G, Pessina A, Perrotta A, stem cells from different sources Fierabracci A, Muraca M on glioblastoma cells Glioblastoma Luciano R, Battafarano G, Saracino R, New perspectives in glioblastoma: Curr Cancer Drug Targets. 2016 3,71 Rossi M, Perrotta A, Manco M, Muraca Nanoparticles-based approaches 17(3):203-220. M, Del Fattore A Glioblastoma Tomaselli S, Galeano F, Alon S, Raho S, Modulation of microRNA editing, Genome Biol. 13;16:5. 2015 10,81 Galardi S, Polito VA, Presutti C, Vincenti expression and processing by S, Eisenberg E, Locatelli F, Gallo A ADAR2 deaminase in glioblastoma Glioblastoma Pistollato F, Bremer-Hoffmann S, Basso Targeting Glioblastoma with the Target Oncol. 11(1):1-16. 2016 3,20 G, Cano SS, Elio I, Vergara MM, Use of Phytocompounds and Giampieri F, Battino M. Nanoparticles. Glioblastoma Simeone P, Trerotola M, Urbanella A, A unique four-hub protein cluster PLoS One. 2014 Jul 2014 3,23 Lattanzio R, Ciavardelli D, Di Giuseppe associates to glioblastoma 22;9(7):e103030. F, Eleuterio E, Sulpizio M, Eusebi V, progression. Pession A, Piantelli M, Alberti S. Glioma Del Bufalo F, Carai A, Figa-Talamanca L, Response of recurrent BRAFV600E J Transl Med. 12:356. 2014 3,99 Bianco G, Cacchione A, Locatelli F, mutated ganglioglioma to Ferretti E, Mastronuzzi A Vemurafenib as single agent Glioma Abed E, Piccardi M, Rizzo D, Chiaretti A, Functional loss of the inner retina Invest Ophthalmol Vis Sci. 2015 3,40 Ambrosio L, Petroni S, Parrilla R, in childhood optic gliomas detected 56(4):2469-74. Dickmann A, Riccardi R, FalsiniB by photopic negative response Glioma Rossi Espagnet MC, Romano A, Multiparametric evaluation of low Br J Radiol. 89(1066):20160476. 2016 1,84 Mancuso V, Cicone F, Napolitano A, grade gliomas at follow-up: Scaringi C, Minniti G, Bozzao A comparison between diffusion and perfusion MR with (18)F-FDOPA PET 12

Glioma Vallero SG, Bertin D, Basso ME, Pittana Diffuse intrinsic pontine glioma in Childs Nerv Syst. 30(6):1061-6. 2014 1,08 LS, Mussano A, Fagioli F. children and adolescents: a single- center experience. Leukaemia Aveic S, Viola G, Accordi B, Locatelli F, Targeting B-cell lymphoma 2- Exp Hematol. 43(3):180-190.e6. 2015 2,81 Basso G, Pigazzi M associated AthanoGene-1 (BAG-1): A novel strategy to increase drug efficacy in acute myeloid leukemia Leukaemia Paganin M, Fabbri G, Conter V, Postinduction minimal residual J Clin Oncol; 32(31):3553-8. 2014 18.42 AIEOP Barisone E, Polato K, Cazzaniga G, disease monitoring by polymerase Giraldi E, Fagioli F, Aricò M, Valsecchi chain reaction in children with MG, Basso G acute lymphoblastic leukemia Leukaemia Comoli P, Basso S, Riva G, Barozzi P, BCR-ABL-specific T-cell therapy in Blood. 2017; 129(5):582-586. 2017 11.84 Guido I, Gurrado A, Quartuccio G, Ph+ ALL patients on tyrosine-kinase Rubert L, Lagreca I, Vallerini D, inhibitors Forghieri F, Morselli M, Bresciani P, Cuoghi A, Paolini A, Colaci E, Marasca R, Cuneo A, Iughetti L, Trenti T, Narni F, Foà R, Zecca M, Luppi M, Potenza L. Leukaemia Dworzak MN, Buldini B, Gaipa G, Ratei AIEOP-BFM consensus guidelines Cytometry B Clin Cytom. Feb 10. 2017 2.47 AIEOP R, Hrusak O, Luria D, Rosenthal E, 2016 for flow cytometric doi: 10.1002/cyto.b.21518 Bourquin JP, Sartor M, Schumich A, immunophenotyping of Pediatric Karawajew L, Mejstrikova E, Maglia O, acute lymphoblastic leukemia Mann G, Ludwig WD, Biondi A, Schrappe M, Basso G; International- BFM-FLOW-network. Leukaemia Buldini B, Rizzati F, Masetti R, Fagioli F, Prognostic significance of flow- Br J Haematol. Apr;177(1):116- 2017 5,81 AIEOP Menna G, Micalizzi C, Putti MC, Rizzari cytometry evaluation of minimal 126. C, Santoro N, Zecca M, Disarò S, residual disease in children with Rondelli R, Merli P, Pigazzi M, Pession acute myeloid leukaemia treated A, Locatelli F, Basso G. according to the AIEOP-AML 2002/01 study protocol.

Leukaemia Vendramini E, Giordan M, Giarin E, High expression of miR-125b-2 and Oncotarget. Mar 21. doi: 2017 5,01 Michielotto B, Fazio G, Cazzaniga G, SNORD116 noncoding RNA clusters 10.18632/ oncotarget.16392 Biondi A, Silvestri D, Valsecchi MG, characterize ERG-related B cell Muckenthaler MU, Kulozik AE, Gattei V, precursor acute lymphoblastic Izraeli S, Basso G, Te Kronnie G. leukemia. Leukaemia Quarello P, Fagioli F, Basso G, Putti MC, Outcome of children with acute Br J Haematol. 171(4):566-73. 2015 4,97 AIEOP Berger M, Luciani M, Rizzari C, Menna myeloid leukaemia (AML) G, Masetti R, Locatelli F experiencing primary induction failure in the AIEOP AML 2002/01 clinical trial Leukemia Aveic, S, Viola, G, Accordi, B, Micalizzi, Targeting BAG-1: A novel strategy Exp Hematol. 43(3):180-190.e6. 2015 2,48 C, Santoro, N, Masetti, R, Locatelli to increase drug efficacy in acute Franco, Basso, G, Pigazzi, M. myeloid leukemia Leukemia Bisio V, Zampini M, Tregnago C, NUP98-fusion transcripts Leukemia. 31(4):974-977. 2016 12,10 AIEOP Manara E, Salsi V, Di Meglio A, Masetti characterize different biological R, Togni M, Di Giacomo D, Minuzzo S, entities within acute myeloid Leszl A, Zappavigna V, Rondelli R, leukemia: a report from the AIEOP- Mecucci C, Pession A, Locatelli F, Basso AML group G, Pigazzi M Leukemia Bresolin S, De Filippi P, Vendemini F, Mutations of SETBP1 and JAK3 in Oncotarget;7(20):28914-9. 2016 5,01 AIEOP D'Alia M, Zecca M, Meyer LH, Danesino juvenile myelomonocytic leukemia: C, Locatelli F, Masetti R, Basso G, Te a report from the italian AIEOP Kronnie G study group Leukemia Buontempo F, Orsini E, Lonetti A, Synergistic cytotoxic effects of Oncotarget. 7(2):1323-40. 2016 6,36 Cappellini A, Bertaina A, Locatelli F, bortezomib and CK2 inhibitor CX- Neri LM, McCubrey JA, Martelli AM 4945 in acute lymphoblastic leukemia: turning off the prosurvival ER chaperone BIP/Grp78 and turning on the pro- apoptotic NF-kappaB Leukemia Callea M, Bellacchio E, Fattori F, Bertini Acute myeloid leukemia in a 3 Leuk Lymphoma. 57(9):2189-91. 2016 2,89 ES, Callea F, Cammarata-Scalisi F years old child with cleidocranial dysplasia

Leukemia Conter V, Valsecchi M, Parasole R, Putti Childhood high-risk acute Blood. 123(10):1470-8. 2014 9,78 AIEOP M, Locatelli F, Barisone E, Nigro L, lymphoblastic leukemia in first Santoro N, Aricò M, Ziino O, Pession A, remission: Results after Testi A, Micalizzi C, Casale F, Zecca M, chemotherapy or transplant from Casazza G, Tamaro P, La Barba G, the AIEOP ALL 2000 study Notarangelo L, Silvestri D, Colombini A, Rizzari C, Biondi A, Masera G, Basso G. Leukemia Conter V, Valsecchi MG, Buldini B, Early T-cell precursor acute Lancet Haematol. 3(2):e80-6. 2016 4,89 AIEOP Parasole R, Locatelli F, Colombini A, lymphoblastic leukaemia in Rizzari C, Putti MC, Barisone E, Nigro children treated in AIEOP centres LL, Santoro N, Ziino O, Pession A, Testi with AIEOP-BFM protocols: a AM, Micalizzi C, Casale F, Pierani P, retrospective analysis Cesaro S, Cellini M, Silvestri D, Cazzaniga G, Biondi A, Basso G Leukemia D'Angiò M, Valsecchi MG, Testi AM, Clinical features and outcome of Haematologica. 100(1):e10-3. 2015 5,87 AIEOP Locatelli F, Foa R, Biondi A, Cazzaniga G SIL/TAL1-positive T-cell acute lymphoblastic leukemia in children and adolescents. A 10 year experience of the AIEOP group Leukemia Decembrino N, Zecca M, Tortorano Acute isolated appendicitis due to New Microbiol; 39(1):65-9 2016 1,72 AM, Mangione F, Lallitto F, Introzzi F, Aspergillus carneus in a Bergami E, Marone P, Tamarozzi F, neutropenic child with acute Cavanna C myeloid leukemia Leukemia De Felice F, Grapulin L, Musio D, Treatment Complications and Long- Anticancer Res. 36(9):4859-64. 2016 1,90 Pomponi J, DI Felice C, Iori AP, Bertaina term Outcomes of Total Body A, Tombolini V Irradiation in Patients with Acute Lymphoblastic Leukemia: A Single Institute Experience Leukemia de Rooij JD, Masetti R, van den Heuvel- Recurrent abnormalities can be Blood. 127(26):3424-30. 2016 11,85 Eibrink MM, Cayuela JM, Trka J, used for risk group stratification in Reinhardt D, Rasche M, Sonneveld E, pediatric AMKL: a retrospective Alonzo TA, Fornerod M, Zimmermann intergroup study M, Pigazzi M, Pieters R, Meshinchi S, Zwaan CM, Locatelli F

Leukemia Evangelisti C, Evangelisti C, Teti G, Assessment of the effect of Oncotarget. 5(17):7886-901. 2014 6,63 Chiarini F, Falconi M, Melchionda F, sphingosine kinase inhibitors on Pession A, Bertaina Alice, Locatelli F, apoptosis,unfolded protein McCubrey J, Beak D, Bittman R, Pyne S, response and autophagy of T-cell Pyne N, Martelli A acute lymphoblastic leukemia cells; Indications for novel therapeutics Leukemia Folgiero V, Cifaldi L, Li Pira G, Goffredo TIM-3/Gal-9 interaction induces J Hematol Oncol. 8:36. 2015 4,81 BM, Vinti L, Locatelli F IFNÎ³-dependent IDO1 expression in acute myeloid leukemia blast cells Leukemia Folgiero V, Goffredo BM, Filippini P, Indoleamine 2,3-dioxygenase 1 Oncotarget. 5(8):2052-64. 2014 6,63 Masetti R, Bonanno G, Caruso R, (IDO1) activity in leukemia blasts Bertaina V, Mastronuzzi A, Gaspari S, correlates with poor outcome in Zecca M, Torelli G, Testi A, Pession A, childhood acute myeloid leukemia Locatelli F, Rutella S Leukemia Franca R, Rebora P, Bertorello N, Pharmacogenetics and Pharmacogenomics J. 17(1):4-10. 2017 4,23 AIEOP Fagioli F, Conter V, Biondi A, Colombini induction/consolidation therapy A, Micalizzi C, Zecca M, Parasole R, toxicities in acute lymphoblastic Petruzziello F, Basso G, Putti MC, leukemia patients treated with Locatelli F, d'Adamo P, Valsecchi MG, AIEOP-BFM ALL 2000 protocol Decorti G, Rabusin M Leukemia Giona F, Putti MC, Micalizzi C, Menna Long-term results of high-dose Br J Haematol. 170(3):398-407. 2015 4,97 G, Moleti ML, Santoro N, Iaria G, imatinib in children and Ladogana S, Burnelli R, Consarino C, adolescents with chronic myeloid Varotto S, Tucci F, Messina C, Nanni M, leukaemia in chronic phase: the Diverio D, Biondi A, Pession A, Locatelli Italian experience F, Piciocchi A, Gottardi E, Saglio G, Foà R Leukemia Giona F, Saglio G, Santopietro M, Early response does not predict Br J Haematol. doi: 2016 5,81 Menna G, Putti MC, Micalizzi C, Iaria G, outcome in children and 10.1111/bjh.14458. Santoro N, Ladogana S, Mura R, adolescents with chronic myeloid Burnelli R, Consarino C, Cosmi C, Moleti leukaemia treated with high-dose ML, Leszl A, Tucci F, Nanni M, Diverio imatinib D, Biondi A, Locatelli F, Foà R

Leukemia Leoncini PP, Bertaina A, Papaioannou MicroRNA fingerprints in juvenile Oncotarget. 7(34):55395-55408. 2016 5,01 D, Flotho C, Masetti R, Bresolin S, myelomonocytic leukemia (JMML) Menna G, Santoro N, Zecca M, Basso G, identified miR-150-5p as a tumor Nigita G, Veneziano D, Pagotto S, suppressor and potential target for D'Ovidio K, Rota R, Dorrance A, Croce treatment CM, Niemeyer C, Locatelli F, Garzon R Leukemia Lepore M, De Lalla C, Gundimeda R, A novel self-lipid antigen targets J Exp Med. 211(7):1363-77. 2014 13,91 Gsellinger H, Consonni M, Garavaglia C, human T cells against Sansano S, Piccolo F, Scelfo A, CD1c⁺ leukemias Häussinger D, Montagna D, Locatelli F, Bonini C, Bondanza A, Forcina A, Li A, Ni G, Ciceri F, Jenö P, Xia C, Mori L, Dellabona P, Casorati G, de Libero G. Leukemia Locatelli F and Niemeyer CM How I treat juvenile Blood. 125(7):1083-90. 2015 10,45 myelomonocytic leukemia Leukemia Locatelli F, Masetti R, Rondelli R, Zecca Outcome of children with high-risk Bone Marrow Transplant. 2015 3,47 AIEOP M, Fagioli F, Rovelli A, Messina C, acute myeloid leukemia given 50(2):181-8. Lanino E, Bertaina A, Favre C, Giorgiani autologous or allogeneic G, Ripaldi M, Ziino O, Palumbo G, Pillon hematopoietic cell transplantation M, Pession A, Rutella S, Prete A. in the aieop AML-2002/01 study Leukemia Locatelli F, Moretta F, Brescia LP, Merli Natural killer cells in the treatment Semin Immunol. 26(2):173-9. 2014 6,12 P of high-risk acute leukaemia Leukemia Franca R, Rebora P, Athanasakis E, TNF-α SNP rs1800629 and risk of Pharmacogenomics; 15(5):619-27 2014 3,22 AIEOP Favretto D, Verzegnassi F, Basso G, relapse in childhood acute Tommasini A, Valsecchi MG, Decorti G, lymphoblastic leukemia: relation to Rabusin M immunophenotype Leukemia Milani G, Rebora P, Accordi B, Galla L, Low PKCα expression within the Oncotarget; 5(14):5234-45. 2014 6,36 AIEOP Bresolin S, Cazzaniga G, Buldini B, Mura MRD-HR stratum defines a new R, Ladogana S, Giraldi E, Conter V, Te subgroup of childhood T-ALL with Kronnie G, Valsecchi MG, Basso G very poor outcome

Leukemia Manara E, Baron E, Tregnago C, Aveic MLL-AF6 fusion oncogene Blood. 124(2):263-72. 2014 9,78 S, Bisio V, Bresolin S, Masetti R, sequesters AF6 into the nucleus to Locatelli F, Basso G, Pigazzi M trigger RAS activation in myeloid leukemia Leukemia Manara E, Basso G, Zampini M, Buldini Characterization of children with Leukemia. 31(1):18-25. 2017 12,10 AIEOP B, Tregnago C, Rondelli R, Masetti R, FLT3-ITD acute myeloid leukemia: a Bisio V, Frison M, Polato K, Cazzaniga report from the AIEOP AML-2002 G, Menna G, Fagioli F, Merli P, Biondi study group A, Pession A, Locatelli F, Pigazzi M Leukemia Manara E, Bisio V, Masetti R, Beqiri V, Core-binding factor acute myeloid Leukemia. 28(5):1132-4. 2014 9,38 AIEOP Rondelli R, Menna G, Micalizzi C, leukemia in pediatric patients Santoro N, Locatelli F, Basso G, Pigazzi enrolled in the AIEOP AML 2002/01 M trial: Screening and prognostic impact of c-KIT mutations Leukemia Masetti R, Castelli I, Astolfi A, Bertuccio Genomic complexity and dynamics Oncotarget. 7(35):56746-56757. 2016 5,01 SN, Indio V, Togni M, Belotti T, of clonal evolution in childhood Serravalle S, Tarantino G, Zecca M, acute myeloid leukemia studied Pigazzi M, Basso G, Pession A, Locatelli with whole-exome sequencing F Leukemia Masetti R, Rondelli R, Fagioli F, Infants with acute myeloid Haematologica. 99(8):e127-9. 2014 5,87 AIEOP Mastronuzzi A, Pierani P, Togni M, leukemia treated according to the Menna G, Pigazzi M, Putti M, Basso G, Associazione Italiana di Ematologia Pession A, Locatelli F e Oncologia Pediatrica 2002/01 protocol have an outcome comparable to that of older children Leukemia Masetti R, Togni M, Astolfi A, Pigazzi M, Whole transcriptome sequencing Br J Haematol. 166(3):449-52. 2014 4,96 Indio V, Rivalta B, Manara E, Rutella S, of a paediatric case of de novo Basso G, Pession A, Locatelli F acute myeloid leukaemia with del(5q) reveals RUNX1-USP42 and PRDM16-SKI fusion transcripts

Leukemia Palmi C, Savino AM, Silvestri D, CRLF2 over-expression is a poor Oncotarget. 7(37):59260-59272. 2016 5,01 AIEOP Bronzini I, Cario G, Paganin M, Buldini prognostic marker in children with B, Galbiati M, Muckenthaler MU, high risk T-cell acute lymphoblastic Bugarin C, Della Mina P, Nagel S, leukemia Barisone E, Casale F, Locatelli F, Lo Nigro L, Micalizzi C, Parasole R, Pession A, Putti MC, Santoro N, Testi AM, Ziino O, Kulozik AE, Zimmermann M, Schrappe M, Villa A, Gaipa G, Basso G, Biondi A, Valsecchi MG, Stanulla M, Conter V, Te Kronnie G, Cazzaniga G Leukemia Parasole R, Petruzziello F, Messina C, Toxicity and efficacy of intrathecal Leuk Lymphoma. 56(3):650-5. 2015 2,61 Locatelli F, Berger M, Morello W, liposomal cytarabine in children Menna G, Poggi V with leukemia/lymphoma relapsing in the central nervous system (CNS): a retrospective multicenter study Leukemia Pigazzi M, Manara E, Buldini B, Beqiri V, Minimal residual disease Haematologica. 100(3):e99-101. 2015 5,87 AIEOP Bisio V, Tregnago C, Rondelli R, Masetti monitored after induction therapy R, Putti MC, Fagioli F, Rizzari C, Pession by RQ-PCR can contribute to tailor A, Locatelli F, Basso G treatment of patients with t(8;21) RUNX1-RUNX1T1 rearrangement Leukemia Spartà A, Bressanin D, Chiarini F, Therapeutic targeting of Polo-like Cell Cycle. 13(14):2237-47. 2014 5,01 Lonetti A, Cappellini A, Evangelisti C, kinase-1 and Aurora kinases in T- Evangelisti C, Melchionda F, Pession A, cell acute lymphoblastic leukemia Bertaina A, Locatelli F, McCubrey J, Martelli A Leukemia Cesaro S, De Filippi P, Di Meglio A, Leszl Different outcomes of allogeneic Int J Hematol; 99(2):208-12 2014 1,84 A, Donska S, Zaccaron A, Cagioni C, hematopoietic stem cell transplant Galavotti R, Danesino C, Aprili F, Cugno in a pair of twins affected by C, te Kronnie G, Zecca M, Bresolin S juvenile myelomonocytic leukemia Leukemia Testi AM, Moleti ML, Canichella M, Very late relapse in a patient with Leuk Lymphoma. 58(4):999-1001. 2017 3,09 Mohamed S, Diverio D, de Propris MS, acute promyelocytic leukemia (APL) Locatelli F, Lo Coco F, Foà R rescued with a chemotherapy-free protocol 19

Leukemia Togni M, Masetti R, Pigazzi M, Astolfi A, Identification of the NUP98-PHF23 J Hematol Oncol. 8:69. 2015 4,81 AIEOP Zama D, Indio V, Serravalle S, Manara fusion gene in pediatric E, Bisio V, Rizzari C, Basso G, Pession A, cytogenetically normal acute Locatelli F myeloid leukemia by whole- transcriptome sequencing Leukemia Torelli G, Peragine N, Raponi S, Pagliara Recognition of adult and pediatric Haematologica. 99(7):1248-54. 2014 5,87 D, De Propris M, Vitale A, Bertaina A, acute lymphoblastic leukemia Barberi W, Moretta L, Basso G, Santoni blasts by natural killer cells A, Guarini A, Locatelli F, Foà R Leukemia Bugarin C, Sarno J, Palmi C, Savino AM, Fine tuning of surface CRLF2 Haematologica. 100(6):e229-32. 2015 5,87 te Kronnie G, Dworzak M, Shumich A, expression and its associated Buldini B, Maglia O, Sala S, Bronzini I, signaling profile in childhood B-cell Bourquin JP, Mejstrikova E, Hrusak O, precursor acute lymphoblastic Luria D, Basso G, Izraeli S, Biondi A, leukemia. Cazzaniga G, Gaipa G; I-BFM study group. Leukemia Lana T, de Lorenzo P, Bresolin S, Refinement of IKZF1 status in Leukemia. 29(10):2107-10. 2015 12,10 Bronzini I, den Boer ML, Cavé H, pediatric Philadelphia-positive Froňková E, Stanulla M, Zaliova M, acute lymphoblastic leukemia. Harrison CJ, de Groot H, Valsecchi MG, Biondi A, Basso G, Cazzaniga G, te Kronnie G. Leukemia Cazzaniga V, Bugarin C, Bardini M, LCK over-expression drives STAT5 Oncotarget. 6(3):1569-81. 2015 5,01 Giordan M, te Kronnie G, Basso G, oncogenic signaling in PAX5 Biondi A, Fazio G, Cazzaniga G. translocated BCP-ALL patients. Leukemia Fazio G, Daniele G, Cazzaniga V, Impera Three novel fusion transcripts of Haematologica. 100(1):e14-7. 2015 0,27 L, Severgnini M, Iacobucci I, Galbiati M, the paired box 5 gene in B-cell Leszl A, Cifola I, De Bellis G, Bresciani P, precursor acute lymphoblastic Martinelli G, Basso G, Biondi A, leukemia. Storlazzi CT, Cazzaniga G. Leukemia Dall'Acqua S, Linardi MA, Bortolozzi R, Natural daucane esters induces Phytochemistry. 108:147-56. 2014 2,55 Clauser M, Marzocchini S, Maggi F, apoptosis in leukaemic cells Nicoletti M, Innocenti G, Basso G, Viola through ROS production. G.

Leukemia La Starza R, Borga C, Barba G, Pierini V, Genetic profile of T-cell acute Blood. 124(24):3577-82. 2014 10,45 Schwab C, Matteucci C, Lema lymphoblastic leukemias with MYC Fernandez AG, Leszl A, Cazzaniga G, translocations. Chiaretti S, Basso G, Harrison CJ, Te Kronnie G, Mecucci C. Leukemia Bortolozzi R, Viola G, Porcù E, A novel copper(I) complex induces Oncotarget. 5(15):5978-91. 2014 6,35 Consolaro F, Marzano C, Pellei M, ER-stress-mediated apoptosis and Gandin V, Basso G. sensitizes B-acute lymphoblastic leukemia cells to chemotherapeutic agents. Leukemia Cavazzini F, Campioni D, Ferrari L, Expression of the immunoglobulin Cytometry B Clin Cytom. 2016 2,82 Buldini B, Bardi MA, Michielotto B, superfamily cell membrane 90(3):247-56. Lazzari MC, Ongari M, Dabusti M, adhesion molecule Cd146 in acute Daghia G, Sofritti O, Basso G, Lanza F, leukemia. Cuneo A. Leukemia Consolaro F, Ghaem-Maghami S, FOXO3a and Posttranslational Mol Cancer Res. 13(12):1578-90. 2015 4,51 Bortolozzi R, Zona S, Khongkow M, Modifications Mediate Basso G, Viola G, Lam EW. Glucocorticoid Sensitivity in B-ALL Leukemia Consolaro F, Basso G, Ghaem-Magami FOXM1 is overexpressed in B-acute Int J Oncol. 47(4):1230-40. 2015 3,02 S, Lam EW, Viola G. lymphoblastic leukemia (B-ALL) and its inhibition sensitizes B-ALL cells to chemotherapeutic drugs. Leukemia Germano G, Morello G, Aveic S, Pinazza ZNF521 sustains the differentiation Oncotarget. 8(16):26129-26141. 2017 5,01 M, Minuzzo S, Frasson C, Persano L, block in MLL-rearranged acute Bonvini P, Viola G, Bresolin S, Tregnago myeloid leukemia. C, Paganin M, Pigazzi M, Indraccolo S, Basso G. Leukemia Serafin V, Lissandron V, Buldini B, Phosphoproteomic analysis reveals Leukemia. 31(4):1007-1011. 2017 12,10 Bresolin S, Paganin M, Grillo F, hyperactivation of mTOR/STAT3 Andriano N, Palmi C, Cazzaniga G, and LCK/Calcineurin axes in Marmiroli S, Conter V, Basso G, Accordi pediatric early T-cell precursor ALL. B.

Leukemia Frezzato F, Accordi B, Trimarco V, Profiling B cell chronic lymphocytic J Leukoc Biol. 100(5):1061-1070. 2016 4,17 Gattazzo C, Martini V, Milani G, leukemia by reverse phase protein Bresolin S, Severin F, Visentin A, Basso array: Focus on apoptotic proteins. G, Semenzato G, Trentin L. Leukemia Magnani C, Ranucci A, Badaloni C, Road Traffic Pollution and Arch Med Res. 47(8):694-705. 2016 2,21 Cesaroni G, Ferrante D, Miligi L, Childhood Leukemia: A Nationwide Mattioli S, Rondelli R, Bisanti L, Case-control Study in Italy. Zambon P, Cannizzaro S, Michelozzi P, Cocco P, Celentano E, Assennato G, Merlo DF, Mosciatti P, Minelli L, Cuttini M, Torregrossa MV, Lagorio S, Haupt R, Forastiere F; SETIL Working Group. Leukemia Paganin M, Buldini B, Germano G, A Case of T-cell Acute Pediatr Blood Cancer. 63(9):1660- 2016 2,63 Seganfreddo E, Meglio Ad, Magrin E, Lymphoblastic Leukemia Relapsed 3. Grillo F, Pigazzi M, Rizzari C, Cazzaniga As Myeloid Acute Leukemia. G, Khiabanian H, Palomero T, Rabadan R, Ferrando AA, Basso G. Leukemia Cazzaniga G, Bisanti L, Randi G, Possible role of pandemic AH1N1 Leukemia Apr 27. doi: 2017 12,10 Deandrea S, Bungaro S, Pregliasco F, swine flu virus in a childhood 10.1038/leu.2017.127 Perotti D, Spreafico F, Masera G, leukemia cluster Valsecchi MG, Biondi A, Greaves M. Leukemia Bruzzi P, Predieri B, Corrias A, Final height and body mass index in BMC Pediatr. 2014 Sep 22;14:236 2014 1,90 Marsciani A, Street ME, Rossidivita A, adult survivors of childhood acute Paolucci P, Iughetti L lymphoblastic leukemia treated without cranial radiotherapy: a retrospective longitudinal multicenter Italian study Leukemia Cianci P, Fazio G, Casagranda S, Spinelli Acute myeloid leukemia in Am J Med Genet A; 173(2):546- 2017 2,08 M, Rizzari C, Cazzaniga G, Selicorni A Baraitser-Winter 549 cerebrofrontofacial syndrome

Leukemia Tosello V, Bordin F, Yu J, Agnusdei V, Calcineurin and GSK-3 inhibition Leukemia. 30(4):812-22. 2016 12,10 Indraccolo S, Basso G, Amadori A, sensitizes T-cell acute Piovan E. lymphoblastic leukemia cells to apoptosis through X-linked inhibitor of apoptosis protein degradation. Leukemia Astolfi A, Vendemini F, Urbini M, MYCN is a novel oncogenic target Oncotarget. 5(1):120-30. 2014 6,36 Melchionda F, Masetti R, Franzoni M, in pediatric T-cell acute Libri V, Serravalle S, Togni M, Paone G, lymphoblastic leukemia. Montemurro L, Bressanin D, Chiarini F, Martelli AM, Tonelli R, Pession A. Leukemia Lonetti A, Antunes IL, Chiarini F, Orsini Activity of the pan-class I Leukemia. 28(6):1196-206. 2014 10,43 E, Buontempo F, Ricci F, Tazzari PL, phosphoinositide 3-kinase inhibitor Pagliaro P, Melchionda F, Pession A, NVP-BKM120 in T-cell acute Bertaina A, Locatelli F, McCubrey JA, lymphoblastic leukemia. Barata JT, Martelli AM. Leukemia Buontempo F, Orsini E, Martins LR, Cytotoxic activity of the casein Leukemia. 28(3):543-53. 2014 10,43 Antunes I, Lonetti A, Chiarini F, kinase 2 inhibitor CX-4945 against Tabellini G, Evangelisti C, Evangelisti C, T-cell acute lymphoblastic Melchionda F, Pession A, Bertaina A, leukemia: targeting the unfolded Locatelli F, McCubrey JA, Cappellini A, protein response signaling. Barata JT, Martelli AM. Leukemia Serravalle S, Bertuccio SN, Astolfi A, Synergistic Cytotoxic Effect of L- Biomed Res Int. 2016:1985750 2016 2,48 Melchionda F, Pession A. Asparaginase Combined with Decitabine as a Demethylating Agent in Pediatric T-ALL, with Specific Epigenetic Signature. Leukemia Lonetti A, Cappellini A, Bertaina A, Improving nelarabine efficacy in T J Hematol Oncol. 9(1):114. 2016 6,62 Locatelli F, Pession A, Buontempo F, cell acute lymphoblastic leukemia Evangelisti C, Evangelisti C, Orsini E, by targeting aberrant Zambonin L, Neri LM, Martelli AM, PI3K/AKT/mTOR signaling pathway. Chiarini F.

Leukemia Masetti R, Bertuccio SN, Astolfi A, Hh/Gli antagonist in acute myeloid J Hematol Oncol. 10(1):26. 2017 6,26 Chiarini F, Lonetti A, Indio V, De Luca leukemia with CBFA2T3-GLIS2 M, Bandini J, Serravalle S, Franzoni M, fusion gene. Pigazzi M, Martelli AM, Basso G, Locatelli F, Pession A. Leukemia Cistaro A, Saglio F, Asaftei S, Fania P, The role of 18F-FDG PET/CT in Radiol Case Rep. 6(4):503. 2015 0,04 Berger M, Fagioli F. pediatric lymph-node acute lymphoblastic leukemia involvement. Leukemia Rizzari C Still trying to pick the best Lancet Oncol; 16(16):1580-1 2015 26,50 asparaginase preparation Leukemia Pillozzi S, Masselli M, Gasparoli L, Macrolide antibiotics exert Blood Cancer J; 6:e423 2016 4,41 D'Amico M, Polletta L, Veltroni M, antileukemic effects by modulating Favre C, Basso G, Becchetti A, Arcangeli the autophagic flux through A inhibition of hERG1 potassium channels Leukemia Faraci M, Matthes-Martin S, Lanino E, Two pregnancies shortly after Pediatr Transplant. 20(1):158-61. 2016 1,28 Morreale G, Ferretti M, Giardino S, transplantation with reduced Micalizzi C, Balduzzi A. intensity conditioning in chronic myeloid leukemia. Leukemia/Lymphoma Berger M, Lanino E, Cesaro S, Zecca M, Feasibility and Outcome of Biol Blood Marrow Transplant; 2016 4,70 AIEOP Vassallo E, Faraci M, De Bortoli M, Haploidentical Hematopoietic Stem 22(5):902-9. Barat V, Prete A, Fagioli F Cell Transplantation with Post- Transplant High-Dose Cyclophosphamide for Children and Adolescents with Hematologic Malignancies: An AIEOP-GITMO Retrospective Multicenter Study Lymphoma Cambiaso P, Bottaro G, Cianfarani S, An Incidental Finding of Bilateral Am J Med Sci. 352(1):80. 2016 1,58 Toma P, Vito RD, Cappa M Adrenal Lymphoma

Lymphoma Attarbaschi A, Carraro E, Abla O, Non-Hodgkin lymphoma and pre- Haematologica;101(12):1581-1591 2016 6,67 Barzilai-Birenboim S, Bomken S, existing conditions: spectrum, Brugieres L, Bubanska E, Burkhardt B, clinical characteristics and outcome Chiang AK, Csoka M, Fedorova A, in 213 children and adolescents Jazbec J, Kabickova E, Krenova Z, Lazic J, Loeffen J, Mann G, Niggli F, Miakova N, Osumi T, Ronceray L, Uyttebroeck A, Williams D, Woessmann W, Wrobel G, Pillon M; European Intergroup for Childhood Non-Hodgkin Lymphoma (EICNHL) and the International Berlin- Frankfur t-Münster (i-BFM) Study Group Lymphoma Pillon M, Aricò M, Mussolin L, Mainardi Mediastinal Burkitt lymphoma in Pediatr Blood Cancer; 2014 2,63 AIEOP C, Giraldi E, Garaventa A, Lombardi A, childhood. 61(11):2127-8. Santoro N, Carraro E, d'Amore ES, Rosolen A; Italian Association of Pediatric Hematology, Oncology AIEOP Non-Hodgkin Lymphoma Working Group Lymphoma Aricò M, Mussolin L, Carraro E, Buffardi Non-Hodgkin lymphoma in children Pediatr Blood Cancer; 2015 2,39 AIEOP S, Santoro N, D'Angelo P, Lombardi A, with an associated inherited 62(10):1782-9. Pierani P, Giraldi E, Mura R, Sala A, condition: A retrospective analysis Garaventa A, Tondo A, Piglione M, Lo of the Associazione Italiana Nigro L, Cesaro S, Perruccio K, Rosolen Ematologia Oncologia Pediatrica A, Basso G, Pillon M (AIEOP).

Lymphoma Farruggia P, Puccio G, Sala A, Todesco The prognostic value of biological Eur J Cancer. 52:33-40. 2016 5,42 AIEOP A, Buffardi S, Garaventa A, Bottigliero markers in paediatric Hodgkin G, Bianchi M, Zecca M, Locatelli F, lymphoma Pession A, Pillon M, Favre C, D'Amico S, Provenzi M, Trizzino A, Zanazzo GA, Sau A, Santoro N, Murgia G, Casini T, Mascarin M, Burnelli R; AIEOP Italian Association of Pediatric Hematology and Oncology and Hodgkin Lymphoma Working Group Lymphoma Farruggia P, Puccio G, Sala A, Todesco Abdomen/pelvis computed Cancer Med. 2016 Sep;5(9):2359- 2016 3,36 A, Terenziani M, Mura R, D'Amico S, tomography in staging of pediatric 67. Casini T, Mosa C, Pillon M, Boaro MP, Hodgkin Lymphoma: is it always Bottigliero G, Burnelli R, Consarino C, necessary? Fedeli F, Mascarin M, Perruccio K, Schiavello E, Trizzino A, Ficola U, Garaventa A, Rossello M Lymphoma Mussolin L, Buldini B, Lovisa F, Carraro Detection and role of minimal Pediatr Blood Cancer; 2015 2,39 AIEOP E, Disarò S, Lo Nigro L, d'Amore ES, disseminated disease in children 62(11):1906-13. Pillon M, Basso G with lymphoblastic lymphoma: The AIEOP experience Lymphoma Pillon M, Aricò M, Mussolin L, Carraro Long-term results of the AIEOP Pediatr Blood Cancer. 62(8):1388- 2015 2,39 AIEOP E, Conter V, Sala A, Buffardi S, LNH-97 protocol for childhood 94. Garaventa A, D'Angelo P, Lo Nigro L, lymphoblastic lymphoma Santoro N, Piglione M, Lombardi A, Porta F, Cesaro S, Moleti ML, Casale F, Mura R, d'Amore ES, Basso G, Rosolen A Lymphoma Pillon M, Arico M, Mussolin L, Mediastinal Burkitt lymphoma in Pediatr Blood Cancer. 2014 2,56 AIEOP Lombardi A, Carraro E, D'Amore ES, childhood 61(11):2127-8. Rosolen A

Lymphoma Pillon M, Mussolin L, Carraro E, Conter Detection of prognostic factors in Br J Haematol. 175(3):467-475. 2016 5,81 AIEOP V, Aricò M, Vinti L, Garaventa A, children and adolescents with Piglione M, Buffardi S, Sala A, Santoro Burkitt and Diffuse Large B-Cell N, Lo Nigro L, Mura R, Tondo A, Casale Lymphoma treated with the AIEOP F, Farruggia P, Pierani P, Cesaro S, LNH-97 protocol d'Amore ES, Basso G Lymphoma Primerano S, Burnelli R, Carraro E, Kinetics of Circulating Plasma Cell- J Cancer. 7(4):364-6. 2016 3,61 Pillon M, Elia C, Farruggia P, Sala A, Free DNA in Paediatric Classical Vinti L, Buffardi S, Basso G, Mascarin Hodgkin Lymphoma M, Mussolin L Lymphoma Lovisa F, Cozza G, Cristiani A, Cuzzolin ALK kinase domain mutations in PLoS One. 10(4):e0121378. 2015 3,54 A, Albiero A, Mussolin L, Pillon M, primary anaplastic large cell Moro S, Basso G, Rosolen A, Bonvini P. lymphoma: consequences on NPM- ALK activity and sensitivity to tyrosine kinase inhibitors. Lymphoma Pomari E, Basso G, Bresolin S, Pillon M, NPM-ALK expression levels identify Leukemia. 31(2):498-501. 2017 12,10 Carraro E, d'Amore ES, Viola G, Frasson two distinct subtypes of paediatric C, Basso K, Bonvini P, Mussolin L. anaplastic large cell lymphoma. Lymphoma Ferrari C, Niccoli Asabella A, Merenda Pediatric Hodgkin Lymphoma: Medicine (Baltimore). 2017 1,20 N, Altini C, Fanelli M, Muggeo P, De Predictive value of interim 18F-FDG Feb;96(5):e5973. Leonardis F, Perillo T, Santoro N, Rubini PET/CT in therapy response G assessment Lymphoma Ciambotti B, Mussolin L, d'Amore ES, Monoallelic mutations of the J Pediatr Hematol Oncol; 2014 0,38 Pillon M, Sieni E, Coniglio ML, Ros MD, perforin gene may represent a 36(6):e359-65 Cetica V, Aricò M, Rosolen A. predisposing factor to childhood anaplastic large cell lymphoma. Lymphoma Mediani L, Gibellini F, Bertacchini J, Reversal of the glycolytic Oncotarget. 7(5):5521-37. 2016 5,01 Frasson C, Bosco R, Accordi B, Basso G, phenotype of primary effusion Bonora M, Calabrò ML, Mattiolo A, lymphoma cells by combined Sgarbi G, Baracca A, Pinton P, Riva G, targeting of cellular metabolism Rampazzo E, Petrizza L, Prodi L, Milani and PI3K/Akt/ mTOR signaling. D, Luppi M, Potenza L, De Pol A, Cocco L, Capitani S, Marmiroli S.

Medulloblastoma Massimino M, Biassoni V, Gandola L, Childhood medulloblastoma Crit Rev Oncol Hematol; 105:35-51 2016 5,04 Garrè ML, Gatta G, Giangaspero F, Poggi G, Rutkowski S Medulloblastoma Frasson C, Rampazzo E, Accordi B, Inhibition of PI3K Signalling Biomed Res Int. 2015:973912. 2015 2,48 Beggio G, Pistollato F, Basso G, Persano Selectively Affects L. Medulloblastoma Cancer Stem Cells. Medulloblastoma Catanzaro G, Besharat ZM, Garg N, MicroRNAs-Proteomic Networks Stem Cells Int. 2016:2683042. 2016 3,69 Ronci M, Pieroni L, Miele E, Characterizing Human Mastronuzzi A, Carai A, Alfano V, Po A, Medulloblastoma-SLCs Screpanti I, Locatelli F, Urbani A, Ferretti E Medulloblastoma Di Giannatale A, Carai A, Cacchione A, Anomalous vascularization in a Wnt BMC Neurol. 16:103. 2016 1,96 Marrazzo A, Dell'Anna VA, Colafati GS, medulloblastoma: a case report Diomedi-Camassei F, Miele E, Po A, Ferretti E, Locatelli F, Mastronuzzi A Medulloblastoma Folgiero V, Miele E, Carai A, Ferretti E, IDO1 involvement in mTOR Oncotarget. 7(33):52900-52911. 2016 5,01 Alfano V, Po A, Bertaina V, Goffredo pathway: A molecular mechanism BM, Benedetti MC, Camassei FD, of resistance to mTOR targeting in Cacchione A, Locatelli F, Mastronuzzi A medulloblastoma Medulloblastoma Mastronuzzi A, Miele E, Po A, Antonelli Large cell anaplastic BMC Cancer. 14:262. 2014 3,32 M, Buttarelli F, Colafati G, Del Bufalo F, medulloblastoma metastatic to the Faedda R, Spinelli G, Carai A, scalp: Tumor and derived stem-like Giangaspero F, Gulino A, Locatelli F, cells features Ferretti E Medulloepithelioma De Pasquale MD, De Ioris MA, Gallo A, Peripheral medulloepithelioma: A J Transl Med. 12:49. 2014 3,99 Mastronuzzi A, Crocoli A, Cozza R, rare tumor with a potential target Boldrini R therapy Meningiomas Felicetti F, Fortunati N, Garbossa D, Meningiomas after cranial J Cancer Res Clin Oncol. 2015 3,14 Biasin E, Rudà R, Daniele D, Arvat E, radiotherapy for childhood cancer: 141(7):1277-82. Corrias A, Fagioli F, Brignardello E. a single institution experience.

Myeloproliferative Avanzini M, Bernardo ME, Novara F, Functional and genetic aberrations Leukemia. 28(8):1742-5. 2014 9,38 disorder Mantelli M, Poletto V, Villani L, Lenta E, of in vitro-cultured marrow-derived Ingo D, Achille V, Bonetti E, Massa M, mesenchymal stromal cells of Campanelli R, Fois G, Catarsi P, Gale R, patients with classical Philadelphia- Moretta A, Aronica A, Maccario R, negative myeloproliferative Acquafredda G, Lisini D, Zecca M, neoplasms Zuffardi O, Locatelli F, Barosi G, Rosti V Myeloproliferative Romano M, Della Porta MG, Gallì A, Antitumour activity of trabectedin Br J Cancer; 116(3):335-343. 2017 5,57 disorder Panini N, Licandro SA, Bello E, in Craparotta I, Rosti V, Bonetti E, myelodysplastic/myeloproliferative Tancredi R, Rossi M, Mannarino L, neoplasms. Marchini S, Porcu L, Galmarini CM, Zambelli A, Zecca M, Locatelli F, Cazzola M, Biondi A, Rambaldi A, Allavena P, Erba E, D'Incalci M Neoplasia, general Principi N, Preti V, Gaspari S, Colombini Streptococcus pneumoniae Hum Vaccin Immunother;12:301- 2016 2,14 A, Zecca M, Terranova L, Cefalo MG, pharyngeal colonization in school- 7. Ierardi V, Pelucchi C, Esposito S. age children and adolescents with cancer. Neoplasia, general Beneventi F, Locatelli E, Giorgiani G, Gonadal and uterine function in BJOG;121(7):856-65 2014 3,44 Zecca M, Locatelli F, Cavagnoli C, female survivors treated by Simonetta M, Bariselli S, Negri B, chemotherapy, radiotherapy, Spinillo A and/or bone marrow transplantation for childhood malignant and non-malignant diseases Neoplasia, general Beneventi F, Locatelli E, Giorgiani G, Adolescent and adult uterine Fertil Steril;103(2):455-61. 2015 4,42 Zecca M, Mina T, Simonetta M, volume and uterine artery Doppler Cavagnoli C, Albanese M, Spinillo A. blood flow among subjects treated with bone marrow transplantation or chemotherapy in pediatric age: a case-control study.

Neoplasia, general Ghaedi H, Bastami M, Zare-Abdollahi D, Bioinformatics prioritization of Genomics. 106(6):360-6. 2015 2,28 Alipoor B, Movafagh A, Mirfakhraie R, SNPs perturbing microRNA Omrani MD, Masotti A regulation of hematological malignancy-implicated genes Neoplasia, general Giordano P, Saracco P, Grassi M, Recommendations for the use of Ann Hematol. 94(11):1765-76. 2015 2,63 AIEOP Luciani M, Banov L, Carraro F, Crocoli long-term central venous catheter A, Cesaro S, Zanazzo GA, Molinari AC; (CVC) in children with hemato- Italian Association of Pediatric oncological disorders: management Hematology and Oncology (AIEOP) of CVC-related occlusion and CVC- related thrombosis. On behalf of the coagulation defects working group and the supportive therapy working group of the Italian Association of Pediatric Hematology and Oncology (AIEOP) Neoplasia, general Crocoli A, Martucci C, Leopardi E, A dedicated protocol and J Vasc Access. 15(6):486-91. 2014 1,02 Padua M, Serra A, Cacchione A, Coletti environment for central venous V, Palumbo G, Ciofi degli Atti ML, Ravà catheter removal in pediatric L, Inserra A patients affected by onco- hematological diseases Neoplasia, general Crocoli A, Tornesello A, Pittiruti M, Central venous access devices in J Vasc Access; 16(2):130-6. 2015 1,53 AIEOP Barone A, Muggeo P, Inserra A, pediatric malignancies: a position Molinari AC, Grillenzoni V, Durante V, paper of Italian Association of Cicalese MP, Zanazzo GA, Cesaro S. Pediatric Hematology and Oncology. Neoplasia, general Ferrari A, Rondelli R, Pession A, Adolescents with Cancer in Italy: Pediatr Blood Cancer; 63(6):1116- 2016 2,63 AIEOP Mascarin M, Buzzoni C, Mosso ML, Improving Access to National 9. Maule M, Barisone E, Bertolotti M, Cooperative Pediatric Oncology Clerici CA, Jankovic M, Fagioli F, Biondi Group (AIEOP) Centers A Neoplasia, general Rondelli R, Jankovic M, Soresina A, The contribution of the Italian Epidemiol Prev. Sep- 2016 0,90 AIEOP Valsecchi MG, De Rosa M, Cuttini M, Association of paediatric Oct;40(5Suppl2):23-27 Haupt R, Aricò M, Bisogno G, Locatelli haematology and oncology (AIEOP) F, Magnani C, Merletti F, Zecca M, Pession A 30

Neoplasia, general Caselli D, Petris MG, Rondelli R, Carraro Single-day J Pediatr; 164(2):389-92 2014 3,89 AIEOP F, Colombini A, Muggeo P, Ziino O, trimethoprim/sulfamethoxazole Melchionda F, Russo G, Pierani P, prophylaxis for Pneumocystis Soncini E, DeSantis R, Zanazzo G, pneumonia in children with cancer Barone A, Cesaro S, Cellini M, Mura R, Milano GM, Meazza C, Cicalese MP, Tropia S, De Masi S, Castagnola E, Aricò M; Infectious Diseases Working Group of the Associazione Italiana Ematologia Oncologia Pediatrica. Neoplasia, general Spreafico F, Bongarzone I, Pizzamiglio Proteomic analysis of cerebrospinal Oncotarget. doi: 2017 5,00 S, Magni R, Taverna E, De Bortoli M, fluid from children with central 10.18632/oncotarget.17579 Ciniselli CM, Barzanò E, Biassoni V, nervous system tumors identifies Luchini A, Liotta LA, Zhou W, Signore candidate proteins relating to M, Verderio P, Massimino M tumor metastatic spread Neoplasia, general Indolfi P, Picazio S, Perrotta S, Rossi F, Time trends of cancer incidence in Ital J Pediatr. Sep 6;42(1):82. 2016 1,61 Pession A, Di Martino M, Pota E, Di childhood in Campania region: 25 Pinto D, Indolfi C, Rondelli R, Vetrano F, years of observation Casale F. Neoplasia, general D'Ambrosio G, Del Prete L, Grimaldi C, Pancreaticoduodenectomy for J Pediatr Surg. 49(4):534-8. 2014 1,31 Bertocchini A, Lo Zupone C, Monti L, De malignancies in children Ville De Goyet J Neoplasia, general De Ioris MA, Carai A, Valente P, Angioni Sporadic Retinoblastoma and Pediatr Blood Cancer. 2015 2,39 A, Randisi F, Cozza R, Romanzo A, Pilocytic Astrocytoma: A Rare 62(12):2245-6. Marras CE, Mastronuzzi A Association of Two Tumors Neoplasia, general Caselli D, Cesaro S, Fagioli F, Carraro F, Incidence of colonization and Infect Dis (Lond); 48(2):152-5. 2016 1,36 AIEOP Ziino O, Zanazzo G, Meazza C, bloodstream infection with Colombini A, Castagnola E; Infectious carbapenem-resistant Diseases Study Group of the Italian Enterobacteriaceae in children Association of Pediatric Hematology receiving antineoplastic and Oncology (AIEOP). chemotherapy in Italy.

Neoplasia, general Fruci D, Romania P, D'Alicandro V, Endoplasmic reticulum Tissue Antigens. 84(2):177-86. 2014 2,35 Locatelli F aminopeptidase 1 function and its pathogenic role in regulating innate and adaptive immunity in cancer and major histocompatibility complex class I-associated autoimmune diseases Neoplasia, general Bizzarri C, Pinto R, Ciccone S, Brescia Early and progressive insulin Pediatr Blood Cancer. 62(9):1650- 2015 2,39 LP, Locatelli F, Cappa M resistance in young, non-obese 5. cancer survivors treated with hematopoietic stem cell transplantation Neoplasia, general Muccio L, Bertaina A, Falco M, Pende Analysis of memory-like Natural Haematologica. 2016 2015 5,81 D, Meazza R, Lopez-Botet M, Moretta Killer cells in Human Mar;101(3):371-81. L, Locatelli F, Moretta A, Della Chiesa M Cytomegalovirus-infected children undergoing alphabeta+T- and B-cell depleted HSCT for hematological malignancies Neoplasia, general Cusinato M, Calvo V, Bisogno G, Attachment orientations and J Psychosoc Oncol. doi: 2017 1,29 Viscardi E, Pillon M, Opocher E, Basso psychological adjustment of 10.1080/07347332.2017.1335365. G, Montanaro M. parents of children with cancer: A matched-group comparison. Neoplasia, general Proserpio T, Veneroni L, Silva M, Spiritual support for adolescent Tumori. 102(4):376-80. 2016 1,07 Lassaletta A, Lorenzo R, Magni C, cancer patients: a survey of Bertolotti M, Barisone E, Mascarin M, pediatric oncology centers in Italy Jankovic M, D'Angelo P, Clerici CA, and Spain. Garrido-Colino C, Gutierrez-Carrasco I, Echebarria A, Biondi A, Massimino M, Casale F, Tamburini A, Ferrari A. Neoplasia, general Castagnola E, Bagnasco F, Amoroso L, Role of management strategies in Pediatr Infect Dis J. 33(3):233-7. 2014 5,72 Caviglia I, Caruso S, Faraci M, Calvillo reducing mortality from invasive M, Moroni C, Bandettini R, Cangemi G, fungal disease in children with Magnano GM, Buffa P, Moscatelli A, cancer or receiving hemopoietic Haupt R stem cell transplant: a single center 30-year experience. 32

Neoplasia, general Castagnola E, Dallorso S, Haupt R. Administration schedule and Pediatr Blood Cancer. 61(2):192. 2014 2,63 ototoxicity of amikacin in children with cancer. Neoplasia, general Terenziani M, Spinelli M, Jankovic M, Practices of pediatric oncology and Pediatr Blood Cancer. 2014 2,63 Bardi E, Hjorth L, Haupt R, Michel G, hematology providers regarding 61(11):2054-8. Byrne J; PanCare Network. fertility issues: a European survey. Neoplasia, general Stark D, Bielack S, Brugieres L, Dirksen Teenagers and young adults with Eur J Cancer Care; 25(3):419-27. 2016 1,79 U, Duarte X, Dunn S, Erdelyi DJ, Grew T, cancer in Europe: from national Hjorth L, Jazbec J, Kabickova E, programmes to a European Konsoulova A, Kowalczyk JR, Lassaletta integrated coordinated project A, Laurence V, Lewis I, Monrabal A, Morgan S, Mountzios G, Olsen PR, Renard M, Saeter G, van der Graaf WT, Ferrari A Neoplasia, general van Dorp W, Mulder RL, Kremer LC, Recommendations for Premature J Clin Oncol. 34(28):3440-50. 2016 20,98 Hudson MM, van den Heuvel-Eibrink Ovarian Insufficiency Surveillance MM, van den Berg MH, Levine JM, van for Female Survivors of Childhood, Dulmen-den Broeder E, di Iorgi N, Adolescent, and Young Adult Albanese A, Armenian SH, Bhatia S, Cancer: A Report From the Constine LS, Corrias A, Deans R, Dirksen International Late Effects of U, Gracia CR, Hjorth L, Kroon L, Childhood Cancer Guideline Lambalk CB, Landier W, Levitt G, Leiper Harmonization Group in A, Meacham L, Mussa A, Neggers SJ, Collaboration With the Oeffinger KC, Revelli A, van Santen HM, PanCareSurFup Consortium. Skinner R, Toogood A, Wallace WH, Haupt R. Neoplasia, general Castagnola E, Caviglia I, Pescetto L, Antibiotic susceptibility of Gram- Future Microbiol. 10(3):357-64. 2015 3,64 Bagnasco F, Haupt R, Bandettini R. negatives isolated from bacteremia in children with cancer. Implications for empirical therapy of febrile neutropenia.

Neoplasia, general Tremolada M, Bonichini S, Basso G, Post-traumatic Stress Symptoms Front Psychol. 7:287. 2016 3,32 Pillon M. and Post-traumatic Growth in 223 Childhood Cancer Survivors: Predictive Risk Factors. Neoplasia, general Magnani C, Mattioli S, Miligi L, Ranucci SETIL: Italian multicentric Ital J Pediatr. 40:103. 2014 1,61 A, Rondelli R, Salvan A, Bisanti L, epidemiological case-control study Masera G, Rizzari C, Zambon P, on risk factors for childhood Cannizzaro S, Gafà L, Luzzatto LL, leukaemia, non hodgkin lymphoma Benvenuti A, Michelozzi P, Kirchmayer and neuroblastoma: study U, Cocco P, Biddau P, Galassi C, population and prevalence of risk Celentano E, Guarino E, Assennato G, factors in Italy. de Nichilo G, Merlo DF, Bocchini V, Pannelli F, Mosciatti P, Minelli L, Chiavarini M, Cuttini M, Casotto V, Torregrossa MV, Valenti RM, Forastiere F, Haupt R, Lagorio S, Risica S, Polichetti A. Neoplasia, general Faraci M, Bagnasco F, Giardino S, Conte Intensive care unit admission in J Pediatr Hematol Oncol. 2014 1,15 M, Micalizzi C, Castagnola E, children with malignant or 36(7):e403-9. Lampugnani E, Moscatelli A, Franceschi nonmalignant disease: incidence, A, Carcillo JA, Haupt R. outcome, and prognostic factors: a single-center experience. Neoplasia, general Bagattoni S, D'Alessandro G, Prete A, Oral health and dental late adverse Eur J Paediatr Dent. 15(1):45-50. 2014 0,42 Piana G, Pession A. effects in children in remission from malignant disease. A pilot case-control study in Italian children. Neoplasia, general Tremolada M, Bonichini S, Basso G, Perceived social support and Psychooncology. 25(12):1408- 2016 3,26 Pillon M. health-related quality of life in AYA 1417. cancer survivors and controls. Neoplasia, general Cordelli DM, Masetti R, Zama D, Toni F, Central Nervous System Front Pediatr. 5:105. 2017 2,17 Castelli I, Ricci E, Franzoni E, Pession A. Complications in Children Receiving Chemotherapy or Hematopoietic Stem Cell Transplantation.

Neoplasia, general Pagano E, Baldi I, Mosso ML, di The economic burden of caregiving Pediatr Blood Cancer. 61(6):1088- 2014 2,63 Montezemolo LC, Fagioli F, Pastore G, on families of children and 93. Merletti F. adolescents with cancer: a population-based assessment. Neoplasia, general Felicetti F, D'Ascenzo F, Moretti C, Prevalence of cardiovascular risk Eur J Prev Cardiol. 22(6):762-70. 2015 3,36 Corrias A, Omedè P, Marra WG, Arvat factors in long-term survivors of E, Fagioli F, Brignardello E, Gaita F. childhood cancer: 16 years follow up from a prospective registry. Neoplasia, general Scarponi D, Pession A. Play Therapy to Control Pain and Front Pediatr. 4:132. 2016 2,17 Suffering in Pediatric Oncology. Neoplasia, general Brignardello E, Felicetti F, Castiglione A, GH replacement therapy and J Endocrinol Invest. 38(2):171-6. 2015 1,99 Fortunati N, Matarazzo P, Biasin E, second neoplasms in adult Sacerdote C, Ricardi U, Fagioli F, Corrias survivors of childhood cancer: a A, Arvat E. retrospective study from a single institution. Neoplasia, general Zucchetti G, Bellini S, Bertolotti M, Body Image Discomfort of J Adolesc Young Adult 2017 0,05 Bona F, Biasin E, Bertorello N, Tirtei Adolescent and Young Adult Oncol.Jun;6(2):377-380.

E, Fagioli F. Hematologic Cancer Survivors. Neoplasia, general Zucchetti G, Bertorello N, Angelastro A, Improving healthcare in pediatric Tumori. Jun 6:0. doi: 2017 1,07 Gianino P, Bona G, Barbara A, oncology: development and testing 10.5301/tj.5000645. Besenzon L, Brach Del Prever A, Pesce of multiple indicators to evaluate a F, Nangeroni M, Fagioli F. hub-and-spoke model. Neoplasia, general Brignardello E, Felicetti F, Castiglione A, Gonadal status in long-term male J Cancer Res Clin Oncol. 2016 3,14 Nervo A, Biasin E, Ciccone G, Fagioli F, survivors of childhood cancer. 142(5):1127-32. Corrias A. Neoplasia, general Brignardello E, Felicetti F, Castiglione A, Ultrasound surveillance for Eur J Cancer. 55:74-80. 2016 6,16 Gallo M, Maletta F, Isolato G, Biasin E, radiation-induced thyroid Fagioli F, Corrias A, Palestini N. carcinoma in adult survivors of childhood cancer. Neoplasia, general Pietra G, Vitale C, Pende D, Bertaina A, Human natural killer cells: news in Cancer Immunol Immunother. 2016 3,94 Moretta F, Falco M, Vacca P, Montaldo the therapy of solid tumors and 65(4):465-76. E, Cantoni C, Mingari MC, Moretta A, high-risk leukemias Locatelli F, Moretta L

Neoplasia, general Bizzarri C, Pinto R, Ciccone S, Brescia Early and progressive insulin Pediatr Blood Cancer. 62(9):1650- 2015 2,39 LP, Locatelli F, Cappa M resistance in young, non-obese 5. cancer survivors treated with hematopoietic stem cell transplantation Neoplasia, general Muccio L, Bertaina A, Falco M, Pende Analysis of memory-like Natural Haematologica. 2016 2015 5,81 D, Meazza R, Lopez-Botet M, Moretta Killer cells in Human Mar;101(3):371-81. L, Locatelli F, Moretta A, Della Chiesa M Cytomegalovirus-infected children undergoing alphabeta+T- and B-cell depleted HSCT for hematological malignancies Neoplasia, general Potenza L, Vallerini D, Barozzi P, Riva G, Mucorales-Specific T Cells in PLoS One. 2016 Feb 2016 4,41 Gilioli A, Forghieri F, Candoni A, Cesaro Patients with Hematologic 12;11(2):e0149108 S, Quadrelli C, Maertens J, Rossi G, Malignancies Morselli M, Codeluppi M, Mussini C, Colaci E, Messerotti A, Paolini A, Maccaferri M, Fantuzzi V, Del Giovane C, Stefani A, Morandi U, Maffei R, Marasca R, Narni F, Fanin R, Comoli P, Romani L, Beauvais A, Viale PL, Latgè JP, Lewis RE, Luppi M Neoplasia, general Ferrari A SIAMO: Italian Pediatric Pediatr Hematol Oncol. 2014 1,09 Oncologists and Adult Medical 2014;31(6):574-5. Oncologists Join Forces for Adolescents with Cancer Neoplasia, general Stabile H, Nisti P, Morrone S, Pagliara Multifunctional human CD56 low Haematologica. 100(4):489-98. 2015 5,81 D, Bertaina A, Locatelli F, Santoni A, CD16 low natural killer cells are the Gismondi A prominent subset in bone marrow of both healthy pediatric donors and leukemic patients Neuroblastic tumors Avanzini S, Faticato MG, Crocoli A, Comparative retrospective study Pediatr Blood Cancer. 64(5). 2017 2,63 Virgone C, Viglio C, Severi E, Fagnani on the modalities of biopsying AM, Cecchetto G, Riccipetitoni G, peripheral neuroblastic tumors: a Noccioli B, Leva E, Sementa A report from the Italian Pediatric R,Mattioli G, Inserra A Surgical Oncology Group (GICOP) 36

Neuroblastic tumors Calabrese FM, Clima R, Pignataro P, A comprehensive characterization Oncotarget. 7(31):49246-49258. 2016 5,01 Lasorsa VA, Hogarty MD, Castellano A, of rare mitochondrial DNA variants Conte M, Tonini GP, Iolascon A, in neuroblastoma Gasparre G, Capasso M Neuroblastic tumors Amoroso L, Erminio G, Makin G, Topotecan-Vincristine-Doxorubicin Cancer Res Treat. Mar 21. doi: 2017 4,24 Pearson AD, Brock P, Valteau-Couanet in Stage 4 High Risk Neuroblastoma 10.4143/crt.2016.511 D, Castel V, Pasquet M, Laureys G, Patients Failing to Achieve a Thomas C, Luksch R, Ladenstein R, Complete Metastatic Response to Haupt R, Garaventa A; SIOPEN Group Rapid COJEC - a SIOPEN Study Neuroblastic tumors De Bernardi B, Quaglietta L, Haupt R, Neuroblastoma with symptomatic Pediatr Blood Cancer. 61(8):1369- 2014 2,56 AIEOP Castellano Aurora, Tirtei E, Luksch R, epidural compression in the infant: 75. Mastrangelo S, Viscardi E, Indolfi P, The AIEOP experience Cellini M, Tamburini A, Erminio G, Gandolfo C, Sorrentino S, Vetrella S, Gigliotti A. Neuroblastic tumors Avanzini S, Pio L, Erminio G, Granata C, Image-defined risk factors in Pediatr Blood Cancer. 2017 Apr 25. 2017 2,63 Holmes K, Gambart M, Buffa P, Castel unresectable neuroblastoma: doi: 10.1002/pbc.26605 V, Valteau Couanet D, Garaventa A, SIOPEN study on incidence, Pistorio A, Cecchetto G, Martucciello G, chemotherapy-induced variation, Mattioli G, Sarnacki S and impact on surgical outcomes Neuroblastic tumors De Ioris MA, Crocoli A, Contoli B, Local control in metastatic BMC Cancer. 15:79. 2015 3,36 Garganese MC, Natali G, Tomà P, neuroblastoma in children over 1 Jenkner A, Boldrini R, De Pasquale MD, year of age Milano GM, Madafferi S, Castellano A, Locatelli F, Inserra A Neuroblastic tumors Di Cataldo A, Agodi A, Balaguer J, Metastatic neuroblastoma in Clin Transl Oncol. 19(1):76-83. 2017 2,08 Garaventa A, Barchitta M, Segura V, infants: are survival rates excellent Bianchi M, Castel V, Castellano A, Cesaro S, only within the stringent Couselo JM, Cruz O, D'Angelo P, De framework of clinical trials? Bernardi B, Donat J, de Andoin NG, Hernandez MI, La Spina M, Lillo M, Lopez- Almaraz R, Luksch R, Mastrangelo S, Mateos E, Molina J, Moscheo C, Mura R, Porta F, Russo G, Tondo A, Torrent M, Vetrella S, Villegas JA, Viscardi E, Zanazzo GA, Cañete A 37

Neuroblastic tumors Defferrari R, Mazzocco K, Ambros IM, Influence of segmental Br J Cancer;112(2):290-5 2015 5,56 Ambros PF, Bedwell C, Beiske K, Bénard chromosome abnormalities on J, Berbegall AP, Bown N, Combaret V, survival in children over the age of Couturier J, Erminio G, Gambini C, 12 months with unresectable Garaventa A, Gross N, Haupt R, Kohler localized peripheral neuroblastic J, Jeison M, Lunec J, Marques B, tumours without MYCN Martinsson T, Noguera R, Parodi S, amplification Schleiermacher G, Tweddle DA, Valent A, Van Roy N, Vicha A, Villamon E, Tonini GP Neuroblastic tumors Dondero A, Pastorino F, Della Chiesa PD-L1 expression in metastatic Oncoimmunology. 5(1):e1064578. 2015 7,64 M, Corrias MV, Morandi F, Pistoia V, neuroblastoma as an additional Olive D, Bellora F, Locatelli F, mechanism for limiting immune Castellano A, Moretta L, Moretta A, surveillance Bottino C, Castriconi R Neuroblastic tumors Furfaro AL, Piras S, Domenicotti C, Role of Nrf2, HO-1 and GSH in PLoS One. 11(3):e0152465 2016 3,06 Fenoglio D, De Luigi A, Salmona M, Neuroblastoma Cell Resistance to Moretta L, Marinari UM, Pronzato MA, Bortezomib Traverso N, Nitti M Neuroblastic tumors Gigliotti AR, De Ioris MA, De Grandis E, Congenital neuroblastoma with Pediatr Hematol Oncol. 33(2):94- 2016 1,09 Podda M, Cellini M, Sorrentino S, De symptoms of epidural compression 101. Bernardi B, Paladini D, Gandolfo C at birth Neuroblastic tumors Mazzocco K, Defferrari R, Sementa AR, Genetic abnormalities in Pediatr Blood Cancer. 2015 2,39 Garaventa A, Longo L, De Mariano M, adolescents and young adults with 62(10):1725-32. Esposito MR, Negri F, Ircolò D, Viscardi neuroblastoma: A report from the E, Luksch R, D'Angelo P, Prete A, Italian Neuroblastoma group Castellano A, Massirio P, Erminio G, Gigliotti AR, Tonini GP, Conte M Neuroblastic tumors Marino S, La Spina M, Scuderi MG, Di Bilateral adrenal neuroblastoma in Pediatr Hematol Oncol. 2016 1,09 Benedetto V, Magro G, Belfiore G, the infant: Is it an image-defined May;33(4):259-63 Coronella M, D'Amico S, Lo Nigro L, risk factor? Russo G, Di Cataldo A Neuroblastic tumors Mina M, Boldrini R, Citti A, Romania P, Tumor-infiltrating T lymphocytes Oncoimmunology. 4(9):e1019981. 2015 6,27 D'Alicandro V, De Ioris M, Castellano A, improve clinical outcome of Furlanello C, Locatelli F, Fruci D therapy-resistant neuroblastoma 38

Neuroblastic tumors Zama D, Morello W, Masetti R, Cordelli Inflammatory disease of the central Pediatr Blood Cancer. 61(8):1521- 2014 2,63 DM, Massaccesi E, Prete A, Pession A. nervous system induced by anti- 2. GD2 monoclonal antibody in a patient with high risk neuroblastoma. Neuroblastic tumors Parodi S, Merlo DF, Ranucci A, Miligi L, Risk of neuroblastoma, maternal Cancer Epidemiol. 38(6):686-94. 2014 2,64 Benvenuti A, Rondelli R, Magnani C, characteristics and perinatal Haupt R; SETIL Working Group. exposures: the SETIL study. Neuroblastic tumors Vallero SG, Lijoi S, Bertin D, Pittana LS, End-of-life care in pediatric neuro- Pediatr Blood Cancer. 2014 2,63 Bellini S, Rossi F, Peretta P, Basso ME, oncology. 61(11):2004-11. Fagioli F. Neuroblastic tumors Amoroso L, Erminio G, Makin G, Topotecan-Vincristine-Doxorubicin Cancer Res Treat. doi: 2017 4,43 Pearson AD, Brock P, Valteau-Couanet in Stage 4 High Risk Neuroblastoma 10.4143/crt.2016.511. D, Castel V, Pasquet M, Laureys G, Patients Failing to Achieve a Thomas C, Luksch R, Ladenstein R, Complete Metastatic Response to Haupt R, Garaventa A; SIOPEN Group. Rapid COJEC - a SIOPEN Study. Neuroblastic tumors Stigliani S, Scaruffi P, Lagazio C, Persico Deregulation of focal adhesion Oncotarget. 6(15):13295-308 2015 5,01 L, Carlini B, Varesio L, Morandi F, pathway mediated by miR-659-3p Morini M, Gigliotti AR, Esposito MR, is implicated in bone marrow Viscardi E, Cecinati V, Conte M, Corrias infiltration of stage M MV neuroblastoma patients Neuroblastic tumors Pezzolo A, Pistorio A, Gambini C, Haupt Intratumoral diversity of telomere Oncotarget. 6(10):7493-503. 2015 5,01 R, Ferraro M, Erminio G, De Bernardi B, length in individual neuroblastoma Garaventa A, Pistoia V. tumors. Neuroblastic tumors Defferrari R, Mazzocco K, Ambros IM, Influence of segmental Br J Cancer. 112(2):290-5. 2015 5,57 Ambros PF, Bedwell C, Beiske K, Bénard chromosome abnormalities on J, Berbegall AP, Bown N, Combaret V, survival in children over the age of Couturier J, Erminio G, Gambini C, 12 months with unresectable Garaventa A, Gross N, Haupt R, Kohler localised peripheral neuroblastic J, Jeison M, Lunec J, Marques B, tumours without MYCN Martinsson T, Noguera R, Parodi S, amplification. Schleiermacher G, Tweddle DA, Valent A, Van Roy N, Vicha A, Villamon E, Tonini GP.

Neuroblastic tumors De Bernardi B, Quaglietta L, Haupt R, Neuroblastoma with symptomatic Pediatr Blood Cancer. 61(8):1369- 2014 2,63 Castellano A, Tirtei E, Luksch R, epidural compression in the infant: 75. Mastrangelo S, Viscardi E, Indolfi P, the AIEOP experience. Cellini M, Tamburini A, Erminio G, Gandolfo C, Sorrentino S, Vetrella S, Gigliotti AR. Neuroblastic tumors Morandi F, Pozzi S, Barco S, Cangemi G, CD4+CD25hiCD127- Treg and Oncoimmunology. 2016 7,64 Amoroso L, Carlini B, Pistoia V, Corrias CD4+CD45R0+CD49b+LAG3+ Tr1 5(12):e1249553. MV cells in bone marrow and peripheral blood samples from children with neuroblastoma Neuroblastic tumors Avanzini S, Faticato MG, Sementa AR, Video-Assisted Needle Core Biopsy Eur J Pediatr Surg; 27(2):166-170 2017 1,26 Granata C, Martucciello G, Pio L, Prato in Children Affected by AP, Garaventa A, Bisio G, Montobbio G, Neuroblastoma: A Novel Combined Buffa P, Mattioli G Technique Neuroblastic tumors Formicola D, Petrosino G, Lasorsa VA, An 18 gene expression-based score J Transl Med; 14(1):142 2016 3,69 Pignataro P, Cimmino F, Vetrella S, classifier predicts the clinical Longo L, Tonini GP, Oberthuer A, outcome in stage 4 neuroblastoma Iolascon A, Fischer M, Capasso M Neuroblastic tumors Veschi V, Petroni M, Bartolazzi A, Galectin-3 is a marker of favorable Cell Death Dis. 5:e1100. 2014 5,18 Altavista P, Dominici C, Capalbo C, prognosis and a biologically Boldrini R, Castellano A, McDowell H, relevant molecule in neuroblastic Pizer B, Frati L, Screpanti I, Gulino A, tumors Giannini G Neurocytoma Messina R, Cefalo M, Cappelletti S, Behavioral disorders as unusual BMC Neurol. 14:242. 2014 2,49 Rebessi E, Carai A, Colafati G, Diomedi presentation of pediatric Camassei F, Cacchione A, Marras CE, extraventricular neurocytoma: Mastronuzzi A report on two cases and review of the literature Osteosarcoma Tirtei E, Asaftei SD, Manicone R, Cesari Survival after second and Tumori. May 10:0. doi: 2017 1,07 M, Paioli A, Rocca M, Ferrari S, Fagioli subsequent recurrences in 10.5301/tj.5000636. F. osteosarcoma: a retrospective multicenter analysis.

Osteosarcoma Ferrari S, Meazza C, Palmerini E, Nonmetastatic osteosarcoma of Tumori. 100(6):612-9. 2014 1,07 Tamburini A, Fagioli F, Cozza R, the extremity. Neoadjuvant Ferraresi V, Bisogno G, Mascarin M, chemotherapy with methotrexate, Cefalo G, Manfrini M, Capanna R, cisplatin, doxorubicin and Biagini R, Donati D, Picci P. ifosfamide. An Italian Sarcoma Group study (ISG/OS-Oss). Osteosarcoma Palmerini E, Jones RL, Marchesi E, Gemcitabine and docetaxel in BMC Cancer. 16:280. 2016 3,27 Paioli A, Cesari M, Longhi A, Meazza C, relapsed and unresectable high- Coccoli L, Fagioli F, Asaftei S, Grignani grade osteosarcoma and spindle G, Tamburini A, Pollack SM, Picci P, cell sarcoma of bone. Ferrari S. Osteosarcoma Grignani G, Palmerini E, Ferraresi V, Sorafenib and everolimus for Lancet Oncol; 16(1):98-107. 2015 26,50 D'Ambrosio L, Bertulli R, Asaftei SD, patients with unresectable high- Tamburini A, Pignochino Y, Sangiolo D, grade osteosarcoma progressing Marchesi E, Capozzi F, Biagini R, after standard treatment: a non- Gambarotti M, Fagioli F, Casali PG, Picci randomised phase 2 clinical trial. P, Ferrari S, Aglietta M; Italian Sarcoma Group. Osteosarcoma Ferrari S, Meazza C, Palmerini E, Cozza Nonmetastatic osteosarcoma of Tumori. 100(6):612-9. 2014 1,09 R, Biagini R, Donati D, Picci P the extremity. Neoadjuvant chemotherapy with methotrexate, cisplatin, doxorubicin and ifosfamide. An Italian Sarcoma Group study (ISG/OS-Oss) Ewing sarcoma Paioli A, Luksch R, Fagioli F, Tamburini Chemotherapy-related toxicity in J Chemother. 26(1):49-56. 2014 1,33 A, Cesari M, Palmerini E, Abate ME, patients with non-metastatic Ewing Marchesi E, Balladelli A, Pratelli L, sarcoma: influence of sex and age. Ferrari S. Ewing sarcoma Ferrari S, Luksch R, Hall KS, Fagioli F, Post-relapse survival in patients Pediatr Blood Cancer. 62(6):994-9. 2015 2,63 Prete A, Tamburini A, Tienghi A, with Ewing sarcoma. DiGirolamo S, Paioli A, Abate ME, Podda M, Cammelli S, Eriksson M, Brach del Prever A.

41 other De Pasquale MD, Crocoli A, Conte M, Mediastinal Germ Cell Tumors in Pediatr Blood Cancer. 63(5):808- 2016 2,63 AIEOP Indolfi P, D'Angelo P, Boldrini R, Pediatric Patients: A Report From 12. Terenziani M, Inserra A the Italian Association of Pediatric Hematology and Oncology other Terenziani M, Bisogno G, Boldrini R, Malignant ovarian germ cell tumors Pediatr Blood Cancer. 2017 Apr 27. 2017 2,63 AIEOP Cecchetto G, Conte M, Boschetti L, De in pediatric patients: The AIEOP doi: 10.1002/pbc.26568 Pasquale MD, Biasoni D, Inserra A, (Associazione Italiana Ematologia Siracusa F, Basso ME, De Leonardis F, Oncologia Pediatrica) study. Di Pinto D, Barretta F, Spreafico F, D'Angelo P. other Bizzarri C and Bottaro G Endocrine implications of Horm Res Paediatr. 83(4):232-41. 2015 1,57 neurofibromatosis 1 in childhood other Diociaiuti A, Guidi B, Surrenti T, A rare case of segmental Cutis. 94(3):149-52. 2014 0,59 Boldrini R, Callea F, El Hachem M neurofibromatosis with multiple blue-red pseudoatrophic plaques other Giovannoni I, Callea F, Boldrini R, Malignant pheochromocytoma in a Pediatr Dev Pathol. 17(2):126-9. 2014 0,86 Inserra A, Cozza R, Francalanci P 16-year-old patient with neurofibromatosis type 1 other Pinna V, Lanari V, Daniele P, Digilio MC, p.Arg1809Cys substitution in Eur J Hum Genet. 23(8):1068-71. 2015 4,23 Dallapiccola B, Clementi M, Tartaglia neurofibromin is associated with a M, De Luca A distinctive NF1 phenotype without neurofibromas other Pizzi M, di Lorenzo I, d'Amore ES, Pediatric gastrointestinal PEComas: Pediatr Dev Pathol. 17(5):406-8. 2014 0,77 D'Angelo P, Alaggio R. a diagnostic challenge. other Astolfi A, Melchionda F, Perotti D, Fois Whole transcriptome sequencing Oncotarget. 6(38):40934-9. 2015 5,01 M, Indio V, Urbini M, Genovese CG, identifies BCOR internal tandem Collini P, Salfi N, Nantron M, D'Angelo duplication as a common feature of P, Spreafico F, Pession A. clear cell sarcoma of the kidney. other De Pasquale MD, Mastronuzzi A, De Sio Transient global ventricular BMC Pediatr. 16:99. 2016 1,81 L, Serra A, Grimaldi C, Chinali M, dysfunction in an adolescent Giordano U affected by pancreatic adenocarcinoma

42 other Maggioli C, Cambiaso P, Ciccone S, Long-term first line medical J Pediatr Endocrinol Metab. 2016 0,91 Colafati GS, Cappa M treatment in a 4-year-old girl with 29(4):497-501. Xq26.3 microduplication-negative somatotropinoma. Case report and literature review other Massi D, Tomasini C, Senetta R, Boldrini Atypical Spitz tumors in patients J Am Acad Dermatol. 72(1):37-46. 2015 5,00 R, Gambini C, Montesco MC younger than 18 years other Chiaravalli S, Guzzo M, Bisogno G, De Salivary gland carcinomas in Pediatr Blood Cancer. 2014 2,56 Pasquale MD, Casanova M, Cecchetto children and adolescents: The 61(11):1961-8. G, Ferrari A Italian TREP project experience other Specchio N, Rizzi M, Fusco L, Rebessi E, Acute intralesional recording in Acta Neurol Belg. 115(3):233-9. 2015 0,60 Cappelletti S, De Palma L, Savioli A, De hypothalamic hamartoma: Benedictis A, Marras CE, Vigevano F, description of 4 cases Delalande O other Morbini P, Capello GL, Alberizzi P, Markers of squamocolumnar Histol Histopathol. Jul;30(7):833-9 2015 1,87 Benazzo M, Paglino C, Comoli P, junction cells in normal tonsils and Pedrazzoli P oropharyngeal cancer with and without HPV infection other Cetrano E, Polito A, Carotti A Primitive intrapericardial teratoma Cardiol Young. 25(1):158-60. 2015 0,86 associated with yolk sac tumour other Angelino G, De Pasquale MD, De Sio L, NRAS(Q61K) mutated primary BMC Cancer. 16:512. 2016 3,27 Serra A, Massimi L, De Vito R, Marrazzo leptomeningeal melanoma in a A, Lancella L, Carai A, Antonelli M, child: case presentation and Giangaspero F, Gessi M, Menchini L, discussion on clinical and diagnostic Scarciolla L, Longo D, Mastronuzzi A implications other Ferrari A, Bisogno G, Cecchetto G, Cutaneous melanoma in children J Pediatr. 2014 Feb;164(2):376-82 2014 0,52 Santinami M, Maurichi A, Bono A, and adolescents: the Italian rare Vajna De Pava M, Pierani P, Bertolini P, tumors in pediatric age project Rossi CR, De Salvo GL experience other Rapini N, Lidano R, Pietrosanti S, De Novo 13q13.3-21.31 deletion Ital J Pediatr. 40:5. 2014 1,24 Vitiello G, Grimaldi Chiara, Postorivo D, involving RB1 gene in a patient with Nardone A, Del Bufalo F, Brancati F, hemangioendothelioma of the liver Manca Bitti M.

43 other Indini A, Bisogno G, Cecchetto G, Gastrointestinal tract carcinoma in Pediatr Blood Cancer 2017 2,63 Vitellaro M, Signoroni S, Massimino M, pediatric and adolescent age: The doi:10.1002/pbc.26658 Riccipetitoni G, Zecca M, Dall'Igna P, Italian TREP project experience. Debora De Pasquale M, Inserra A, Chiaravalli S, Basso E, Virgone C, Sorbara S, Di Bartolomeo M, D'Angelo P, Ferrari A. other Nobili V, Alisi A, Grimaldi C, Liccardo D, Non-alcoholic fatty liver disease Pediatr Obes. 9(5):e99-e102. 2014 2,42 Francalanci P, Monti L, Castellano A, De and hepatocellular carcinoma in a Ville De Goyet J 7-year-old obese boy: Coincidence or comorbidity? other Carrega P, Loiacono F, Di Carlo E, NCR(+)ILC3 concentrate in human Nat Commun. 6:8280. 2015 11,47 Moretta L, Ferlazzo G lung cancer and associate with intratumoral lymphoid structures other Cefalo M, Colafati G, Romanzo A, Congenital cystic eye associated BMC Ophthalmol. 14:80. 2014 1,08 Modugno A, De Vito R, Mastronuzzi A with a low-grade cerebellar lesion that spontaneously regressed other Antonelli M, Korshunov A, Mastronuzzi Long-term survival in a case of Virchows Arch. 466(5):603-7. 2015 2,65 A, Diomedi Camassei F, Carai A, ETANTR with histological features Giangaspero F of neuronal maturation after therapy other Diociaiuti A, Inserra A, Fuertes De Vega Naevoid Basal Cell Carcinoma Acta Derm Venereol. 95(2):243-4. 2015 4,24 I, Rota C, Surrenti T, Giraldi R, Syndrome in a 22-month-old Child Piemontese MR, Giovannoni I, Callea F, Presenting with Multiple Basal Cell El Hachem M Carcinomas and a Fetal Rhabdomyoma other Terenziani M, D'Angelo P, Inserra A, Mature and immature teratoma: A Pediatr Blood Cancer. 62(7):1202- 2015 2,39 Boldrini R, Bisogno G, Babbo GL, Conte report from the second Italian 8. M, Dall' Igna P, De Pasquale MD, Indolfi pediatric study P, Piva L, Riccipetitoni G, Siracusa F, Spreafico F, Tamaro P, Cecchetto G other Virgone C, Alaggio R, Dall'Igna P, Buffa Epithelial Tumors of the Ovary in J Pediatr Adolesc Gynecol 2015 1,60 P, Tonegatti L, Ferrari A, Bisogno G, Children and Teenagers: A Dec;28(6):441-6 Cecchetto G Prospective Study from the Italian TREP Project 44 other Chieffo DP, Tamburrini G, Caldarelli M, Preoperative neuropsychological J Neurosurg Pediatr. 13(5):507-13. 2014 1,37 Di Rocco C and behavioral evaluation of children with thalamic tumors other Stachowicz-Stencel T, Orbach D, Brecht Thymoma and thymic carcinoma in Eur J Cancer; 51(16):2444-52 2015 6,16 I, Schneider D, Bien E, Synakiewicz A, children and adolescents: a report Rod J, Ferrari A, Cecchetto G, Bisogno from the European Cooperative G Study Group for Pediatric Rare Tumors (EXPeRT). other Filippi L, Tamburini A, Berti E, Perrone Successful Propranolol Treatment Pediatr Blood Cancer; 63(7):1290- 2016 2,63 A, Defilippi C, Favre C, Calvani M, Della of a Kaposiform 2 Bona ML, la Marca G, Donzelli G Hemangioendothelioma Apparently Resistant to Propranolol other Cambiaso P, Amodio D, Procaccini E, Pituicytoma and cushing's disease Pediatrics. 136(6):e1632-6. 2015 5,47 Longo D, Galassi S, Camassei F, Cappa in a 7-year-old girl: A mere M coincidence? Retinoblastoma De Ioris MA, Valente P, Randisi F, Baseline central nervous system Anticancer Res. 34(12):7449-54. 2014 1,87 Buzzonetti L, Carai A, Cozza R, Del magnetic resonance imaging in Bufalo F, Romanzo A, Angioni A, early detection of trilateral Cacchione A, Bernardi B, Mastronuzzi A retinoblastoma: Pitfalls in the diagnosis of pineal gland lesions Retinoblastoma Grotta S, D'Elia G, Scavelli R, Genovese Advantages of a next generation BMC Cancer. 15:841. 2015 3,36 S, Surace C, Sirleto P, Cozza R, sequencing targeted approach for Romanzo A, De Ioris MA, Valente P, the molecular diagnosis of Tomaiuolo AC, Lepri FR, Franchin T, retinoblastoma Ciocca L, Russo S, Locatelli F, Angioni A Retinoblastoma Valente P, De Ioris MA, Romanzo A, Advanced unilateral Can J Ophthalmol. 51(2):e40-3. 2016 1,46 Cozza R, Natali G, Buzzonetti L retinoblastoma: a case of sparing enucleation treatment failure. Rhabdomyosarcoma Ciarapica R, Carcarino E, Adesso L, De Pharmacological inhibition of EZH2 BMC Cancer. 14:139. 2014 3,32 Salvo M, Bracaglia G, Leoncini P, as a promising differentiation Dall'Agnese A, Verginelli F, Milano G, therapy in embryonal RMS Boldrini R, Inserra A, Stifani S, Screpanti I, Marquez V, Valente S, Mai A, Puri P, Locatelli F, Palacios D, Rota R

Rhabdomyosarcoma Conti B, Slemmons KK, Rota R, Linardic Recent Insights into Notch Signaling Curr Drug Targets. 17(11):1235-44. 2016 3,03 CM in Embryonal Rhabdomyosarcoma Rhabdomyosarcoma De Salvo M, Raimondi L, Vella S, Adesso Hyper-activation of notch3 PLoS One. 9(5):e96238. 2014 3,53 L, Ciarapica R, Verginelli F, Pannuti A, amplifies the proliferative potential Citti A, Boldrini R, Milano G, Cacchione of rhabdomyosarcoma cells A, Ferrari A, Collini P, Rosolen A, Bisogno G, Alaggio R, Inserra A, Locatelli M, Stifani S, Screpanti I, Miele L, Locatelli F, Rota R Rhabdomyosarcoma Gasparini P, Casanova M, Villa R, Collini Anaplastic lymphoma kinase Oncotarget. 7(37):58903-58914. 2016 5,01 P, Alaggio R, Zin A, Bonvini P, aberrations correlate with Antonescu CR, Boldrini R, Caserini R, metastatic features in pediatric Moro M, Centonze G, Meazza C, rhabdomyosarcoma Massimino M, Bergamaschi L, Luksch R, Chiaravalli S, Bisogno G, Zaffaroni N, Daidone MG, Sozzi G, Ferrari A Rhabdomyosarcoma Piersigilli F, Auriti C, Mondì V, Decreased CDKN1C Expression in Indian J Pediatr. 83(12-13):1476- 2016 0,81 Francalanci P, Salvatori G, Danhaive O Congenital Alveolar 1478. Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome Rhabdomyosarcoma Vella S, Pomella S, Leoncini PP, Colletti MicroRNA-101 is repressed by Clin Epigenetics. 7:82. 2015 4,54 M, Conti B, Marquez VE, Strillacci A, EZH2 and its restoration inhibits Roma J, Gallego S, Milano GM, tumorigenic features in embryonal Capogrossi MC, Bertaina A, Ciarapica R, rhabdomyosarcoma Rota R Rhabdomyosarcoma Angelini L, Bisogno G, Alaggio R, Prognostic factors in children J Pediatr Urol. 12(4):265.e1-8 2016 1,17 Scarzello G, Santoro L, Zanetti I, undergoing salvage surgery for Scagnellato A, Basso E, D'Angelo P, bladder/prostate Ferrari A, Castagnetti M. rhabdomyosarcoma.

Rhabdomyosarcoma Virgone C, Lalli E, Bisogno G, Lazzari E, DAX-1 Expression in Pediatric PLoS One. 10(7):e0133019 2015 3,54 Roma J, Zin A, Poli E, Cecchetto G, Rhabdomyosarcomas: Another Dall'Igna P, Alaggio R Immunohistochemical Marker Useful in the Diagnosis of Translocation Positive Alveolar Rhabdomyosarcoma Rhabdomyosarcoma Castagnetti M, Angelini L, Alaggio R, Oncologic outcome and urinary J Urol. Jun;191(6):1850-5 2014 4,47 Scarzello G, Bisogno G, Rigamonti W function after radical cystectomy for rhabdomyosarcoma in children: role of the orthotopic ileal neobladder based on 15-year experience at a single cente Rhabdomyosarcoma Zin A, Bertorelle R, Dall'Igna P, Manzitti Epithelioid rhabdomyosarcoma: a Am J Surg Pathol; 38(2):273-8 2014 5,14 C, Gambini C, Bisogno G, Rosolen A, clinicopathologic and molecular Alaggio R study Rhabdomyosarcoma Alaggio R, Zhang L, Sung YS, Huang SC, A Molecular Study of Pediatric Am J Surg Pathol; 40(2):224-35. 2016 4,95 Chen CL, Bisogno G, Zin A, Agaram NP, Spindle and Sclerosing LaQuaglia MP, Wexler LH, Antonescu Rhabdomyosarcoma: Identification CR of Novel and Recurrent VGLL2- related Fusions in Infantile Cases Rhabdomyosarcoma Tombolan L, Poli E, Martini P, Zin A, NELL1, whose high expression Oncotarget;8(20):33086-33099 2017 5,01 Romualdi C, Bisogno G, Lanfranchi G correlates with negative outcomes, has different methylation patterns in alveolar and embryonal rhabdomyosarcoma Rhabdomyosarcoma Tombolan L, Poli E, Martini P, Zin A, Global DNA methylation profiling BMC Cancer;16(1):886 2016 3,26 Millino C, Pacchioni B, Celegato B, uncovers distinct methylation Bisogno G, Romualdi C, Rosolen A, patterns of protocadherin alpha4 in Lanfranchi G metastatic and non-metastatic rhabdomyosarcoma Rhabdomyosarcoma La Starza R, Nofrini V, Pierini T, Pierini Molecular Cytogenetics Detect an Pediatr Blood Cancer. 2015 2,39 V, Zin A, Bisogno G, Cerri C, Caniglia M, Unbalanced t(2;13)(q36;q14) and Dec;62(12):2238-41 Sidoni A, Ludwig K, Mecucci C PAX3-FOXO1 Fusion in Rhabdomyosarcoma With Mixed Embryonal/Alveolar Features 47

Rhabdomyosarcoma Peron M, Lovisa F, Poli E, Basso G, Understanding the Interplay PLoS One. 10(7):e0132330. 2015 3,54 Bonvini P. between Expression, Mutation and Activity of ALK Receptor in Rhabdomyosarcoma Cells for Clinical Application of Small- Molecule Inhibitors. Sarcoma Brigida I, Chiriaco M, Di Cesare S, Large Deletion of MAGT1 Gene in a J Clin Immunol. 37(1):32-35. 2017 3,09 Cittaro D, Di Matteo G, Giannelli S, Patient with Classic Kaposi Lazarevic D, Zoccolillo M, Stupka E, Sarcoma, CD4 Lymphopenia, and Jenkner A, Francalanci P, Livadiotti S, EBV Infection Morawski A, Ravell J, Lenardo M, Cancrini C, Aiuti A, Finocchi A Sarcoma Casanova M, Basso E, Magni C, Response to pazopanib in two Tumori. 21;103(1):e1-e3. 2017 1,07 Bergamaschi L, Chiaravalli S, Carta R, Tirtei pediatric patients with pretreated E, Massimino M, Fagioli F, Ferrari A. relapsing synovial sarcoma. Sarcoma Ferrari A, Magni C, Bergamaschi L, Pediatric nonrhabdomyosarcoma Pediatr Blood Cancer. Feb 24. doi: 2017 2,39 Cecchetto G, Alaggio R, Milano GM, soft tissue sarcomas arising at 10.1002/pbc.26490. Bertolini P, Basso E, Manzitti C, Di visceral sites. Martino M, Giurici N, Melchionda F, Cecinati V, Chiaravalli S, Affinita MC, Scagnellato A, Casanova M, Bisogno G Sarcoma Ferrari A, De Salvo GL, Brennan B, van Synovial sarcoma in children and Ann Oncol;26(3):567-72. 2015 9,26 Noesel MM, De Paoli A, Casanova M, adolescents: the European Francotte N, Kelsey A, Alaggio R, Pediatric Soft Tissue Sarcoma Study Oberlin O, Carli M, Ben-Arush M, Group prospective trial (EpSSG Bergeron C, Merks JH, Jenney M, NRSTS 2005). Stevens MC, Bisogno G, Orbach D. Sarcoma Ludwig K, Alaggio R, Zin A, Peron M, BCOR-CCNB3 Undifferentiated Pediatr Dev Pathol. Jan 1 2017 0,77 Guzzardo V, Benini S, Righi A, Sarcoma-Does :1093526617698263 Gambarotti M Immunohistochemistry Help in the Identification?

Sarcoma Brennan B, De Salvo GL, Orbach D, De Outcome of extracranial malignant Eur J Cancer; 60:69-82. 2016 6,16 Paoli A, Kelsey A, Mudry P, Francotte rhabdoid tumours in children N, Van Noesel M, Bisogno G, Casanova registered in the European M, Ferrari A Paediatric Soft Tissue Sarcoma Study Group Non- Rhabdomyosarcoma Soft Tissue Sarcoma 2005 Study-EpSSG NRSTS 20 Sarcoma Merli L, Musini C, Gabor F, Pariente D, Pitfalls in the surgical management Eur J Pediatr Surg. 25(1):132-7. 2015 0,98 Guerin F of undifferentiated sarcoma of the liver and benefits of preoperative chemotherapy Sarcoma Orbach D, Brennan B, De Paoli A, Conservative strategy in infantile Eur J Cancer; 57:1-9. 2016 6,16 Gallego S, Mudry P, Francotte N, van fibrosarcoma is possible: The Noesel M, Kelsey A, Alaggio R, European paediatric Soft tissue Ranchère D, De Salvo GL, Casanova M, sarcoma Bergeron C, Merks JH, Jenney M, Stevens MC, Bisogno G, Ferrari A Sarcoma Cavaliere E, Alaggio R, Castagnetti M, Prostatic stromal sarcoma in an Rare Tumors;6(4):5607 2014 0,00 Scarzello G, Bisogno G adolescent: the role of chemotherapy Thyroid cancer Proia G, Bianciardi Valassina M, Papillary carcinoma on a Acta Otorhinolaryngol Ital. 2014 1,44 Palmieri G, Zama M thyroglossal duct cyst: Diagnostic 34(3):215-7. problems and therapeutic dilemma. A case report Thyroid cancer Sironi G, Ferrari A, Podda M, Chiaravalli Papillary Thyroid Carcinoma in Curr Pediatr Rev 2016 0,60 AIEOP S, Bisogno G, Cecchetto G, Massimino Pediatric Age: An Example of a Rare M Tumour Managed Within a Cooperative Comprehensive Project Thyroid cancer Spinelli C, Strambi S, Rossi L, Bakkar S, Surgical management of papillary Endocrinol Invest. 39(9):1055-9. 2016 1,99 Massimino M, Ferrari A, Collini P, thyroid carcinoma in childhood and Cecchetto G, Bisogno G, Inserra A, adolescence: an Italian multicenter Bianco F, Miccoli P study on 250 patients

Urothelial carcinoma Berrettini A, Castagnetti M, Salerno T, Bladder urothelial neoplasms in J Pediatr Urol. 11(1):26.e1-5. 2015 1,41 Nappo SG, Caione P pediatric age: Experience at three tertiary centers Urothelial carcinoma Di Carlo D, Ferrari A, Perruccio K, Management and follow-up of Pediatr Blood Cancer. 62(6):1000- 2015 2,63 D'Angelo P, Fagnani AM, Cecchetto G, urothelial neoplasms of the bladder 3. Bisogno G. in children: a report from the TREP project. Urothelial Carcinoma Caione P, Patruno G, Pagliarulo V, Non-Muscular Invasive Urothelial Urology. 99:215-220. 2017 2,19 Bulotta AL, Salerno A, Camassei FD, Carcinoma of the Bladder in Lastilla G, Nappo SG Pediatric and Young Adult Patients: Age-Related Outcomes Wilms D'Angelo P, Di Cataldo A, Terenziani M, Factors possibly affecting prognosis Pediatr Blood Cancer. 2017 Jun 9. 2017 2,39 AIEOP Bisogno G, Collini P, Di Martino M, in children with Wilms' tumor doi: 10.1002/pbc.26644 Melchionda F, Mosa C, Nantron M, diagnosed before 24 months of Perotti D, Puccio G, Serra A, Catania S, age: A report from the Associazione Spreafico F; AIEOP Wilms Tumor Italiana Ematologia Oncologia Working Group Pediatrica (AIEOP) Wilms Tumor Working Group. Wilms Spreafico F, Terenziani M, Testa S, Long-term renal outcome in Pediatr Blood Cancer 61(6):1136-7 2014 2,56 Perotti D, Collini P, Piva L, Ardissino G adolescent and young adult patients nephrectomized for unilateral Wilms tumor Wilms Brok J, Pritchard-Jones K, Geller JI, Review of phase I and II trials for Eur J Cancer;79:205-213 2017 6,16 Spreafico F Wilms' tumour - Can we optimise the search for novel agents?

Pubblicazioni Malattie ematologiche pediatriche

Unità operativa / Dipartimento /Azienda: Membri italiani pediatri GRUPPO DI MALATTIE RARE: dell’European Reference Network in Rare Hematological Diseases di Globulo Rosso (Sickle cell disease, Thalassemia); Padova, Genova Gaslini, Firenze-Pisa, Genova Galliera, Roma Sapienza, Bari, Monza, Napoli Univ. Vanvitelli, Orbassano Torino. Insufficienze midollari (Fanconi, DBA, Neutropenie);

Scheda compilata da: Raffaella Colombatti (Padova), Carlo Dufour (Genova Coagulazione (Emofilia, Malattia di Von Willebrand) Gaslini), Claudio Favre (Firenze), Gianluca Forni (Genova Galliera), Fiorina Giona (Roma Sapienza), Paola Giordano (Bari), Nicoletta Masera (Monza), Silverio Perrotta (Napoli Univ. Vanvitelli), Antonio Piga (Torino).

Pubblicazioni: Malattie ematologiche pediatriche 1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Thalassemia Piga A, Fracchia S, Lai ME, Cappellini MD, Deferasirox effect on renal haemodynamic Br J Haematol. 2015 2014 5.40 Hirschberg R, Habr D, Wegener A, Bouillaud E, parameters in patients with transfusion- Mar;168(6):882-90. Forni GL. dependent β thalassaemia. doi: 10.1111/bjh.13217. Thalassemia Piga A, Longo F, Origa R, Roggero S, Pinna F, Deferasirox for cardiac siderosis in β- Br J Haematol. 2014 2014 45.40 Zappu A, Castiglioni C, Cappellini MD. thalassaemia major: a multicentre, open labNov;167(3):423 -6. prospective study. doi: 10.1111/bjh.12987 Thalassemia Ruo Redda MG, Allis S, Reali A, Bartoncini S, Complete recovery from paraparesis in spinIntern Med J. 2014 2014 1.644 Roggero S, Anglesio SM, Piga A. cord compression due to Apr;44(4):409-12. extramedullary haemopoiesis in beta- doi: 10.1111/imj.12386. thalassaemia by emergency radiation theraReview. Thalassemia Derchi G, Galanello R, Bina P, Cappellini MD, PPrevalence and risk factors for pulmonary Circulation. 2014 Jan 2014 15.073 A, Lai ME, Quarta A, Casu G, Perrotta S, Pinto Varterial hypertension in a large group of β- 21;129(3):338-45. Musallam KM, Forni GL; Webthal Pulmonary thalassemia patients using right heart Arterial Hypertension Group*. catheterization: a Webthal study. Sickle cell Inusa B, ColombattiR European migration crises: The role of Pediatr Blood Cancer. 2012017 national hemoglobinopathy registries in Jul;64(7) improving patient access to care. Sickle cell Martella M, Quaglia N, Frigo AC, Basso G, Association between a combination of singlBlood Cells Mol Dis. 2016 Colombatti R, Sainati L. nucleotide polymorphisms and large vessel 2016 Oct;61:1-3. cerebral vasculopathy in African children w sickle cell disease. Sickle cell Colombatti R, Lucchetta M, Montanaro M, Cognition and the Default Mode Network in PLoS One. 2016 Jun 2016 Rampazzo P, Ermani M, Talenti G, Baracchini Children with Sickle Cell Disease: A Resting 9;11(6):e0157090. C, Favero A, Basso G, Manara R, Sainati L. State Functional MRI Study. Sickle cell Manara R, Talenti G, Rampazzo P, Ermani M, Longitudinal evaluation of cerebral white Br J Haematol. 2017 2017 5.40 Montanaro M, Baracchini C, Teso S, Basso G, matter hyperintensities lesion volume in Feb;176(3):485-487. Sainati L, Colombatti R. children with sickle cell disease.

Sickle cell Heeney MM, Hoppe CC, Abboud MR, Inusa BA Multinational Trial of Prasugrel for N Engl J Med. 2016 Feb 2016 59 Kanter J, Ogutu B, Brown PB, Heath LE, Sickle Cell Vaso-Occlusive Events. 18;374(7):625-35 Jakubowski JA, Zhou C, Zamoryakhin D, Agbenyega T, Colombatti R, Hassab HM, Nduba VN, Oyieko JN, Robitaille N, Segbefia CI, Rees DC; DOVE Investigators. Sickle cell Colombatti R, Ermani M, Rampazzo P, Cognitive evoked potentials and neural Br J Haematol. 2015 2015 5.40 Manara R, Montanaro M, Basso G, networks are abnormal in children with May;169(4):597-600. Meneghetti G, Sainati L. sickle cell disease and not related to the degree of anaemia, pain and silent infarcts. Sickle cell Marzollo A, Colombatti R, Sainati L. Airways obstruction and pulmonary Pediatr Pulmonol. 2014 2014 capillary blood volume in children with Jul;49(7):723 sickle cell disease. Thalassemia Pepe A, Rossi G, Bentley A, Putti MC, FrizzierCost -Utility Analysis of Three Iron Clin Drug Investig. 2017 2017 L, D'Ascola DG, Cuccia L, Spasiano A, Filosa A Chelators Used in Monotherapy for the May;37(5):453-464 Caruso V, Hanif A, Meloni A. Treatment of Chronic Iron Overload in β-Thalassaemia Major Patients: An Italian Perspective. Thalassemia Pepe A, Meloni A, Rossi G, Midiri M, Missere Prediction of cardiac complications for Eur Heart J Cardiovasc 2017 4.293 M, Valeri G, Sorrentino F, D'Ascola thalassemia major in the widespread Imaging.0:1-11. DG, Spasiano A, Filosa A, Cuccia L, Dello Iacocardiac magnetic resonance era: a N, Forni G, Caruso V, Maggio A, Pitrolo prospective multicentre study by a L, Peluso A, De Marchi D, Positano V, Wood multi -parametric approach. Thalassemia Pepe A, Rossi G, Bentley A, Putti MC, FrizzierCost -Utility Analysis of Three Iron Clin Drug Investig. 2017 0.91 L, D'Ascola DG, Cuccia L, Spasiano A, Filosa Chelators Used in Monotherapy for the 7(5):453-464 A, Caruso V, Hanif A, Meloni A. Treatment of Chronic Iron Overload in β-Thalassaemia Major Patients: An Italian Perspective. Thalassemia C. Vassalle, A. Meloni, L. Pistoia, A. Pepe. Liver-Pancreas-Heart triangle and HCV in Int J Hematol Ther 2017 0.454 thalassemia: expanding the horizon throu3(1):1 -6. biomarker networks. Thalassemia Meloni A, De Marchi D, Positano V, Neri MG Accurate estimate of pancreatic T2* valueAbdom Imaging. 40(8):3129 2015 2.25 Mangione M, Keilberg P, Lendini M, Cirotto Chow to deal with fat infiltration. 36 Pepe A. 53

Thalassemia Casale M, Meloni A, Filosa A, Cuccia L, Caruso Multiparametric Cardiac Magnetic ResonanCirc Cardiovasc Imaging. 2015 4.72 Palazzi G, Gamberini MR, Pitrolo L, Putti MC, Survey in Children With Thalassemia Major 8(8):e003230. D'Ascola DG, Casini T, Quarta A, Maggio A, Multicenter Study Neri MG, Positano V, Salvatori C, Toia P, Valer Midiri M, Pepe A. Thalassemia Ricchi P, Meloni A, Spasiano A, Neri MG, Extramedullary hematopoiesis is associated Am J Hematol. 90(11):1008- 2015 5.00 Gamberini MR, Cuccia L, Caruso V, Gerardi C, with lower cardiac iron loading in chronica12. D'Ascola DG, Rosso R, Campisi S, Rizzo M, transfused thalassemia patients. Terrazzino F, Vangosa AB, Chiodi E, Missere M, Mangione M, Positano V, Pepe A. Thalassemia Meloni A, Restaino G, Missere M, Pancreatic iron overload by T2* MRI in a laAm J Hematol. 2015 5.00 De Marchi D, Positano V, Valeri G, Giuseppe cohort of well treated thalassemia major 90(9):E189-90. D'Ascola D, Peluso A, Caterina Putti M, patients: can it tell us heart iron distributio Lendini M, Giovanna Neri M, Midiri M, and function? Sallustio G, Pepe A. Thalassemia Pepe A, Meloni A, Borsellino Z, Cuccia L, BorgnMyocardial fibrosis by late gadolinium J Cardiovasc Med 16(10):689- 2015 0.66 Pignatti C, Maggio A, Restaino G, enhancement cardiac magnetic resonance Gagliardotto F, Caruso V, Spasiano A, Filosa A, and hepatitis C virus infection in thalassem Centra M, D’Ascola D, Quarta A, Peluso A, major patients. Midiri M, Rossi G, Positano V, Capra M. Thalassemia Grassedonio E, Meloni A, Positano V, Quantitative T2* magnetic resonance imagAbdominal Imaging 40(6):170 2015 2.25 De Marchi D, Toia P, Midiri M, Pepe A. for renal iron overload assessment: norma 4. values by age and sex. Thalassemia Positano V, Meloni A, Santarelli MF, Gerardi C Fast generation of T2* maps in the entire Comput Biol Med. 2015 1.79 Bitti PP, Cirotto C, De Marchi D, Salvatori C, range of clinical interest: application to 56:200-10. Landini L, Pepe A. thalassemia major patients. Thalassemia Meloni A, Positano V, Ruffo GB, Spasiano A, Improvement of heart iron with preserved European Heart Journal - 2014 1.39 D’Ascola D, Peluso A, Keilberg Petra, Restaino patterns of iron store by CMR-guided Cardiovascular Imaging Gennaro, Valeri G, Renne S, Midiri M, Pepe A. chelation therapy. 16(3):325-34.

Thalassemia Meloni A, Restaino G, Borsellino Z, Caruso V, Different patterns of myocardial iron Int Journal of Cardiology 2014 2.57 Spasiano A, Zuccarelli A, Valeri G, Toia P, C distribution by whole-heart T2* Magnetic 177:1012-1019. Salvatori, V Positano, M Midiri, Pepe A. Resonance as risk markers for heart complications in thalassemia major.

Thalassemia Borgna-Pignatti C, Meloni A, Guerrini G, GulinMyocardial iron overload in thalassaemia Br J Haematol. 2014 5.40 Filosa A, Ruffo GB, Casini T, Chiodi E, Lombard major. How early to check? 164(4):579-85. M, Pepe A. Thalassemia Bacigalupo L, Paparo F, Zefiro D, Viberti CM, Comparison between different software Radiol Med. Oct;121(10):751- 2016 Cevasco L, Gianesin B, Pinto VM, Rollandi programs and post-processing GA, Wood JC, Forni GL. techniques for the MRI quantification of liver iron concentration in thalassemia patients. Thalassemia Mattioli F, Puntoni M, Marini V, Fucile C, MilaDetermination of deferasirox plasma Eur J Haematol. Apr;94(4):310 2015 G, Robbiano L, Perrotta S, Pinto V, Martelli A, concentrations: do gender, physical and Forni GL. genetic differences affect chelation efficacy? Sickle cell Forni GL, Finco G, Graziadei G, Balocco M, Development of interactive algorithm for Orphanet J Rare Dis. Jun 2014 Rigano P, Perrotta S, Olivieri O, Cappellini clinical management of acute events 23;9:91. doi: 10.1186/1750- MD, De Franceschi L. related to sickle cell disease in 1172-9-91. emergency department. Thalassemia Derchi G, Balocco M, Bina P, Caruso V, Efficacy and safety of sildenafil for the Haematologica. Feb;99(2):e17 2014 6.67 D'Ascola DG, Littera R, Origa R, Cappellini treatment of severe pulmonary hypertensi MD, Forni GL. in patients with hemoglobinopathies: resul from a long-term follow up. Thalassemia Gianesin B, Zefiro D, Paparo F, Caminata A, Characterization of ferromagnetic or Magn Reson Med. 2015 Balocco M, Carrara P, Quintino S, Pinto V, conductive properties of metallic foreign May;73(5):2030-7 Bacigalupo L, Rollandi GA, Marinelli M, Forni Gobjects embedded within the human body with magnetic iron detector (MID): Screening patients for MRI. Thalassemia Casale M, Citarella S, Filosa A, De Michele E, Endocrine function and bone disease durinAm J Hematol. 2014 5.00 Palmieri F, Ragozzino A, Amendola G, Pugliese long -term chelation therapy with deferasirDec;89(12):1102 -6 Tartaglione I, Della Rocca F, Cinque P, Nobili in patients with β-thalassemia major B,Perrotta S. Thalassemia Rossi F, Perrotta S, Bellini G, Luongo L, Tortora Endocrine function and bone disease durinHaematologica. 2014 6.67 Siniscalco D, Francese M, Torella M, Nobili B, Dlong -term chelation therapy with deferasirDec;99(12):1876 -84. Marzo V, Maione S. in patients with β-thalassemia major

Sferocitosi Farruggia P, Puccio G, Ramenghi U, Colombatt Recombinant erythropoietin vs. blood Am J Hematol. 2017 2017 5.00 Ereditaria Corti P, Trizzino A, Barone A, Boscarol G, Ferratransfusion care in infants with hereditary Jun;92(6):E103-E105. F, Grotto P, Lo Valvo L, Luti L, Matarese SMR, spherocytosis: a retrospective cohort study Mosa C, Putti MC, Rubert L, Ruffo GB, Sainati A.I.E.O.P. patients (Associazione Italiana Tartaglione I, Russo G, Perrotta S. Emato-Oncologia Pediatrica). Anemia Dufour C, Veys P, Carraro E, Bhatnagar N, PilloSimilar outcome of upfront-unrelated and Br J Haematol. 2015 2015 5.40 Aplastica M, Wynn R, Gibson B, Vora AJ, Steward CG, matched sibling stem cell transplantation i Nov;171(4):585-94. doi: Ewins AM, Hough RE, de la Fuente J, Velangi Midiopathic paediatric aplastic anaemia. A 10.1111/bjh.13614. Epub 201 Amrolia PJ, Skinner R, Bacigalupo A, Risitano Astudy on behalf of the UK Paediatric BMT Jul 28 Socie G, Peffault de Latour R, Passweg J, Rovo Working Party, Paediatric Diseases Workin Tichelli A, Schrezenmeier H, Hochsmann B, BaParty and Severe Aplastic Anaemia Workin P, van Biezen A, Aljurf MD, Kulasekararaj A, Party of EBMT. Marsh JC, Samarasinghe S. Anemia Dufour C, Pillon M, Sociè G, Rovò A, Carraro E Outcome of aplastic anaemia in children. A Br J Haematol. 2015 2014 5.40 Aplastica Bacigalupo A, Oneto R, Passweg J, Risitano A, study by the severe aplastic anaemia and May;169(4):565-73. Tichelli A, Peffault de Latour R, Schrezenmeier paediatric disease working parties of the Hocshmann B, Peters C, Kulasekararaj A, Van European group blood and bone marrow Biezen A, Samarasinghe S, Hussein AA, Ayas Mtransplant. Aljurf M, Marsh J. Anemia di Dufour Carlo How I manage patients with Fanconi anaemBJ Haematology 2017 5.40 Fanconi 10.1111/bjh.14615 Anemia Miano M, Lanciotti M, Giardino S, Dufour C. Ser245Tyr TINF2 mutation in a long-term Blood Cells Mol Dis. 2015 2015 2.731 Aplastica survivor after a second myeloablative SCT Aug;55(2):187-8. doi: following late graft failure for Aplastic 10.1016/j.bcmd.2015.01.002 Anaemia. Anemia Aplasti Dufour C, Pillon M, Passweg J, Socié G, Outcome of aplastic anemia in adolescenceHaematologica. 2014 2014 6.67 Bacigalupo A, Franceschetto G, Carraro E, Onesurvey of the Severe Aplastic Anemia WorkOct;99(10):1574 -81. doi: R, Risitano AM, Peffault de Latour R, Tichelli A Party of the European Group for Blood and 10.3324/haematol.2014.1060 Rovo A, Peters C, Hoechsmann B, SamarasinghMarrow Transplantation. Epub 2014 Aug 1 S, Kulasekararaj AG, Schrezenmeier H, Aljurf M Marsh J.

Anemia di Svahn J, Bagnasco F, Cappelli E, Onofrillo D, Somatic, hematologic phenotype, long-termAm J Hematololy, 2016 5.00 Fanconi Caruso S, Corsolini F, De Rocco D, Savoia A, outcome, and effect of hematopoietic stem 91(7):666-71. doi: Longoni D, Pillon M, Marra N, Ramenghi U, cell transplantation. An analysis of 97 Fanc10.1002/ajh.24373 Farruggia P, Locasciulli A, Addari C, Cerri C, anemia patients from the Italian national Mastrodicasa E, Casazza G, Verzegnassi F, database on behalf of the Marrow Failure Riccardi F, Haupt R, Barone A, Cesaro S, Cugno Study Group of the AIEOP (Italian Associati , Dufour C of Pediatric Hematology-Oncology). Anemia di Parodi A, Kalli F, Svahn J, Stroppiana G, De RocImpaired immune response to Candida Cytokine. 2015 May;73(1):203 2015 3.488 Fanconi D, Terranova P, Dufour C, Fenoglio D, Cappelli albicans in cells from Fanconi anemia doi: 10.1016/j.cyto.2015.02.0 patients. Anemia di Svahn J, Lanza T, Rathbun K, Bagby G, Ravera Sp38 Mitogen-activated protein kinase Exp Hematol. 2015 2015 2.820 Fanconi Corsolini F, Pistorio A, Longoni D, Farruggia P, inhibition enhances in vitro erythropoiesis Apr;43(4):295 -9. doi: Dufour C, Cappelli E Fanconi anemia, complementation group A 10.1016/j.exphem.2014.11.01 deficient bone marrow cells. Coagulazione Peyvandi F, Mannucci PM, Garagiola I, El- A Randomized Trial of Factor VIII and N Engl J Med. 2016 May 2016 59 (Emofilia) Beshlawy A, Elalfy M, Ramanan V, Eshghi P, Neutralizing Antibodies in Hemophilia A. 26;374(21):2054-64. d Hanagavadi S, Varadarajan R, Karimi M, Manglani MV, Ross C, Young G, Seth T, Apte S Nayak DM, Santagostino E, Mancuso ME, Sandoval Gonzalez AC, Mahlangu JN, Bonanad Boix S, Cerqueira M, Ewing NP, Male C, Owaid T, Soto Arellano V, Kobrinsky NL, Majumdar S, Perez Garrido R, Sachdeva A, Simpson M, Thomas M, Zanon E, Antmen B, Kavakli K, Manco-Johnson MJ, Martinez M, Marzouka E, Mazzucconi MG, Neme D, Palomo Bravo A, Paredes Aguilera R, Prezotti A, Schmitt K, Wicklund BM, Zulfikar B, Rosendaal FR. Coagulazione Castaman G, Rocino A, Mazzucconi MG, Zanon Prophylaxis therapy in paediatric patients Blood Transfus. 2015 2015 (Emofilia) Gagliano F, Molinari AC. with haemophilia: a survey of clinical Oct;13(4):631-8 management trends in Italy. Coagulazione Giordano P, Francavilla M, Buonamico P, Hepatic angiodynamic profile in paediatric Vasa. May;46(3):195-202. 2017 Suppressa P, Lastella P, Sangerardi M, patients with hereditary haemorrhagic Miniello VL, Scardapane A, Lenato GM, telangiectasia type 1 and type 2. Sabbà C. 57

Coagulazione Valente M, Cortesi PA, Lassandro G, Health economic models in hemophilia A aPediatr Blood Cancer. 2015 (Emofilia) Mathew P, Pocoski J, Molinari AC, utility assumptions from a clinician's Oct;62(10):1826-31. Mantovani LG, Giordano P. perspective. Coagulazione Giordano P, Brunetti G, Lassandro G, High serum sclerostin levels in children Br J Haematol. Jan;172(2):293 2016 5.40 (Emofilia) Notarangelo LD, Luciani M, Mura RM, with haemophilia A. Lazzareschi I, Santagostino E, Piacente L, Ventura A, Cavallo L, Grano M, Faienza MF. Coagulazione Giordano P, Lassandro G, Valente M, Current management of the hemophilic Pediatr Hematol Oncol. 2014 (Emofilia) Molinari AC, Ieranò P, Coppola A. child: a demanding interlocutor. Quality Nov;31(8):687-702. of life and adequate cost-efficacy analysis. Globulo Rosso Bento C, Percy MJ, Gardie B, Maia TM, van WiGenetic basis of congenital Hum Mutat. Jan;35(1):15-26. 2014 Eritrocitosi R, Perrotta S, Della Ragione F, Almeida H, Roserythrocytosis: mutation update and online C, Girodon F, Aström M, Neumann D, Schnittgdatabases. S, Landin B, Minkov M, Randi ML, Richard S, Casadevall N, Vainchenker W, Rives S, Hermouet S, Ribeiro M McMullin MF, Cario H; ECE-Consortium, Chauveau A, Gimenez-Roqueplo AP, Bressac-d Paillerets B, Altindirek D, Lorenzo F, Lambert F Dan H, Gad-Lapiteau S, Catarina Oliveira A, Ro C, Fraga C, Taradin G, Martin-Nuñez G, Vitória Diaz Aguado H, Palmblad J, Vidán J, Relvas L, Ribeiro ML, Luigi Larocca M, Luigia Randi M, Pedro Silveira M, Percy M, Gross M, Marques Costa R, Beshara S, Ben-Ami T, Ugo V; ECE- Consortium.

Trial clinici farmacologici

Lo stato dell’arte sullo sviluppo dei farmaci per malattie rare, frutto sia della ricerca industriale che indipendente, con la partecipazione alle sperimentazioni di gruppi italiani: i dati dell'Associazione Italiana di Ematologia ed Oncologia Pediatrica (AIEOP) Carmelo Rizzari 1,2, W. Morello 2,3,4 F. Fagioli 5 1UOS Ematologia Pediatrica, Clinica Pediatrica dell'Università di Milano-Bicocca, Fondazione MBBM, ASST Monza., 2Gruppo di Lavoro Farmacologia Clinica e Farmacosorveglianza, AIEOP, 3Clinica Pediatrica, Policlinico S. Orsola, Università degli Studi di Bologna, 4Dipartimento di Scienze Cliniche e di Comunità, Fondazione IRCCS Ospedale Maggiore Policlinico, Università degli Studi di Milano 5Oncoematologia Pediatrica, OIRM, Torino, Presidente AIEOP

Ogni anno in Europa a 15.000 bambini di età compresa tra 0-14 anni e a rete AIEOP partecipano attivamente agli studi promossi dal network 20.000 adolescenti e giovani adulti di età compresa tra i 15 ei 24 anni viene europeo ITCC (Innovative Therapies for Children with Cancer), che riunisce diagnosticato un tumore [1]. La sopravvivenza complessiva a 5 anni è oltre 50 istituzioni europee in un consorzio di eccellenza di vocazione continuamente migliorata e si è giunti a quasi l'80% subito dopo gli anni prettamente accademica (orientato quindi a studi no-profit) ma che 2000 [2]. Ciò vuol dire che comunque 6.000 giovani in Europa muoiono contribuisce anche alla implementazione e gestione di ECTs parzialmente ancora di tumore ogni anno, essendo i tumori la prima causa di morte in sponsorizzati dall'industria farmaceutica. Gli obiettivi dell'ITCC sono quelli questa categoria [3]. di identificare nuove molecole potenzialmente utilizzabili nell’impiego clinico, di accreditare centri europei di eccellenza che possano arruolare In Italia vengono effettuate ogni anno circa 1.200 nuove diagnosi di tumore pazienti in studi clinici di fase I-II e di garantire che la conduzione di tali nell'età pediatrica (0-18 anni), la quasi totalità presso una delle istituzioni studi avvenga in accordo con principi di Good Clinical Practice (GCP). dell'AIEOP. Fin dalla sua fondazione l'AIEOP ha costituito il punto di riferimento nazionale per la cura delle malattie oncologiche, emato- In base al rapporto nazionale 2016 (sperimentazioni relative all’anno 2015) oncologiche ed ematologiche dell'infanzia. Nel tempo l'AIEOP ha [4] in Italia sono state condotte 98 sperimentazioni cliniche sui minori di 18 progressivamente intrapreso la strada delle sperimentazioni cliniche anni, di cui 54 esclusivamente su pazienti pediatrici e 44 su minori e adulti. controllate su scala nazionale, favorendo così la crescita di una generazione Le aree terapeutiche più rappresentate erano la neurologia/psichiatria, la di ricercatori di alto profilo scientifico nelle diverse istituzioni che la infettivologia, l'area cardio-vascolare e l'oncologia/oncoematologia. Vale la compongono. L'AIEOP si è anche fatta carico negli ultimi due-tre decenni di pena sottolineare che queste ultime sperimentazioni vengono fare da sponsor di molti trials clinici con una progressiva assunzione di esclusivamente condotte presso centri dell'AIEOP. responsabilità scientifiche, organizzative e normative negli ambiti di propria pertinenza, contribuendo altresì alla sistematizzazione degli assetti relativi Allo scopo di favorire la collaborazione tra i vari centri della rete AIEOP e alla centralizzazione delle diagnosi, alla gestione dei dati clinici e del soprattutto per garantire ad ogni paziente la possibilità di accedere alle materiale biologico centralizzato. terapie più innovative per le varie fasi della sua malattia, soprattutto quelle relative alle malattie resistente o in recidiva, il Gruppo di Lavoro di In relazione agli Early Clinical Trials (ECT, studi di fase I-II con farmaci non Farmacologia Clinica e Farmacosorveglianza dell'AIEOP ha creato un ancora registrati per l'età pediatrica) alcuni dei più importanti centri della registro degli studi clinici con nuovi farmaci attivi nei centri AIEOP. Il 59 registro degli studi è stato collocato all'interno del sito web dell'AIEOP e Bibliografia reso interamente fruibile da parte di tutti i soci, così che essi possano essere messi facilmente a conoscenza di eventuali studi aperti in altri centri 1. Ferlay J, Shin HR, Bray F, et al. Estimates of worldwide burden of cancer e di poter quindi avere a portata di "click" i contatti per l'acquisizione delle in 2008: GLOBOCAN 2008. Int J Cancer 2010;127:2893–2917. informazioni principali. Si tratta di 26 studi dei quali 10 in oncologia, 11 in 2. Gatta G, Botta L, Rossi S, et al. Childhood cancer survival in Europe oncoematologia e 5 in altre aree di pertinenza alle patologie gestite nei 1999–2007: Results EUROCARE-5-a population-based study. Lancet entri AIEOP. In questi studi sono sperimentati 24 farmaci innovativi e sono Oncol 2014;15:35–47. coinvolti 17 centri AIEOP. Uno studio è nazionale e 25 sono internazionali. 3. Pritchard-Jones K, Pieters R, Reaman GH, et al. Sustaining innovation Sono stati inoltre individuate 3 studi internazionali con altrettanti nuovi and improvement in the treatment of childhood cancer: Lessons from farmaci, la cui approvazione in Italia è prevista nei prossimi mesi. high-income countries. Lancet Oncol 2013;14:e95–e103. 4. La sperimentazione clinica con i farmaci in Italia: rapporto nazionale 2016 (sperimentazioni relative all’anno 2015), 2016, OSSC, AIFA.

Trial clinici farmacologici: Malattie oncologiche 1 2 3 4 5 6 7 8 Partners Ruolo Durata Nome MR Sponsor Denominazione del trial Farmaco Note I N C P C T (anno) Leucemia AMGEN X An Open-Label, Multi-center, Blinatumomab X Centro coordinatore: Linfoblastica Acuta Expanded Access Protocol of Ospedale Pediatrico Blinatumomab for the Bambino Gesù, Roma Treatment of Pediatric and Centri partecipanti: Adolescent Subjects with Ospedale San Relapsed and/or Refractory B- Gerardo, Monza precursor Acute Lymphoblastic Leukemia (ALL) (Rialto Study) Leucemia AMGEN X A Randomized, Open-label, Blinatumomab X Centro coordinatore: Linfoblastica Acuta Controlled Phase 3 Adaptive Ospedale Pediatrico Trial to Investigate the Efficacy, Bambino Gesù, Roma Safety, and Tolerability of the Centri partecipanti: BiTE Antibody Blinatumomab as -Ospedale San Consolidation Therapy Versus Gerardo, Monza Conventional Consolidation - Policlinico S. Orsola- Chemotherapy in Pediatric Malpighi , Bologna Subjects With High-risk First - IRCCS Istituto Relapse B-precursor Acute Giannina Gaslini , Lymphoblastic Leukemia (ALL) Genova - Ospedale Santobono Pausilipon, Napoli - Azienda Ospedaliero- 61

Universitaria di Padova - Policlinico San Matteo, Pavia - Policlinico Umberto I - Roma Leucemia NOVARTIS X A Phase II, single arm, CTL019 X Centro coordinatore: Linfoblastica Acuta B multicenter trial to determine chimeric Ospedale San the efficacy and safety of antigen Gerardo (Monza) CTL019 in pediatric patients receptor T cell with relapsed and refractory B- (CART) cell acute lymphoblastic leukemia Leucemia AMGEN X Phase 1b/2 Study of Carfilzomib Carfilzomib X Centro coordinatore: Linfoblastica Acuta in Combination with Ospedale San Dexamethasone, Mitoxantrone, Gerardo (Monza) PEG-asparaginase, and Centri partecipanti: Vincristine (UK R3 Induction - Ospedale Pediatrico Backbone) in Children with Bambino Gesù, Roma Relapsed or Refractory Acute Lymphoblastic Leukemia- CFZ008 Leucemia Acuta Boehringer Ingelheim X Open-label, dose-escalating trial Volasertib X Centro coordinatore: Mieloide to evaluate the tolerability, Ospedale Pediatrico toxicity, safety, Bambino Gesù, Roma pharmacokinetics, Centri partecipanti: pharmacodynamics and activity Ospedale San of volasertib added to the Gerardo, Monza standard intensive salvage chemotherapy regimen with liposomal daunorubicine, 62

fludarabine and cytarabine (DNX-FLA) followed by fludarabine and cytarabine (FLA) in children from 3 months to less than18 years of age with acute myeloid leukaemia after failure of the front-line therapy

Eudract: 2015-004625-14 Sindrome CELGENE X A Phase 2, Multicenter, Open- Azacitidina X Centro coordinatore: mielodisplastica Label Study To Evaluate The Ospedale Pediatrico e Pharmacokinetics, Bambino Gesù, Roma Leucemia Pharmacodynamics, Safety And Centri partecipanti: mielomonocitica Activity Of Azacitidine And To giovanile -Ospedale San Compare Azacitidine To Gerardo, Monza Historical Controls In Pediatric - Azienda Subjects With Newly Diagnosed Ospedaliero- Advanced Myelodysplastic Universitaria di Syndrome Or Juvenile Padova Myelomonocytic Leukemia - Policlinico San Before Hematopoietic Stem Cell Matteo (Pavia) Transplantation - Policlinico S. Orsola- Malpighi (Bologna) Numero Eudract: 2014‐002388‐ - IRCCS Istituto 13 Giannina Gaslini (Genova) - Ospedale Regina Margherita - Sant'Anna di Torino

Sindrome CELGENE X A phase I/II study of Azacitidine Azacitidina X Centro coordinatore: mielodisplastica (Vidaza) in pediatric patients Osp. San Gerardo e with newly diagnosed or (Monza) Leucemia relpased high-grade pediatric Centri partecipanti: - mielomonocitica MDS or JMML Osp. Pediatrico giovanile Bambino Gesù - Eudract: 2010-022235-10 Policlinico San Matteo (Pavia) Linfoma a larghe Millennium X A phase I/II study of Brentuximab X Centro coordinatore: cellule anaplastiche Pharmaceuticals brentuximab vedotin in Azienda Ospedaliero- + pediatric patients with relapsed Universitaria di Linfoma di Hodgkin or refractory sistemic anaplastic Padova large-cell lymphoma or hodgkin lymphoma Centri partecipanti: Ospedale Pediatrico Eudract: 2011-001240-29 Bambino Gesù, Roma Linfoma non- Janssen X A Randomized, Open-label, Ibrutinib X Centro coordinatore: Hodgkin Safety and Efficacy Study of Ospedale Pediatrico Ibrutinib in Pediatric and Young Bambino Gesù, Roma Adult Patients With Relapsed or Centri partecipanti: Refractory Mature B-cell non- - Ospedale Regina Hodgkin Lymphoma. Margherita - Sant'Anna di Torino EudraCT: 2016-000259-28 -Ospedale San Gerardo, Monza - Azienda Ospedaliero- Universitaria di Padova

Linfoistiocitosi Novimmune SA X A Pilot, Open-label, Single Arm, Anti-IFNy X Centro coordinatore: emofagocitica Multicentre Study to Explore Ospedale Pediatrico primitiva Safety, Tolerability, Bambino Gesù, Roma Pharmacokinetics and Efficacy Centri partecipanti: of Intravenous Multiple - Ospedale San Administrations of NI-0501, an Gerardo (Monza) Anti-interferon Gamma (Anti- - Ospedale Meyer IFNγ) Monoclonal Antibody, in (Firenze); Paediatric Patients with Primary - Ospedale Gaslini, Haemophagocytic (Genova); Lymphohistiocytosis in whom - Ospedale Pausilipon the disease has reactivated or (Napoli); an unsatisfactory response has - Azienda been achieved Ospedaliero- Universitaria di Padova; - Ospedale Regina Margherita - Sant'Anna di Torino Neuroblastoma University of X Studio randomizzato di fase IIb Bevacizumab X Centro coordinatore: Birmingham su Bevacizumab aggiunto a Ospedale Pediatrico temozolomide +/- Irinotecan in Bambino Gesù, Roma

bambini con neuroblastoma Centri partecipanti: refrattario/recidivato - Istituto Nazionale dei Tumori di Milano - Istituto Gianna Gaslini, Genova

Neuroblastoma St. Anna X A phase I/II dose schedule CH14.18/CHO X Centro coordinatore: Kinderkrebsforschung finding study of CH14.18/CHO Istituto Gianna continuous infusion combined Gaslini, Genova

with subcutaneous aldesleukin Centri partecipanti: (IL-2) in patients with primary - Istituto Nazionale refractory or relapsed dei Tumori di Milano - Ospedale Pediatrico neuroblastoma. Bambino Gesù, Roma Tumori Boehringer Ingelheim X Studio di fase I in aperto, a Afatinib X Centro coordinatore: neuroectodermici, dosaggio scalare, per Ospedale Pediatrico rabdomiosarcoma, determinare la MTD, la Bambino Gesù, Roma tumori solidi con sicurezza, la PK e l'efficacia di Centri partecipanti: deregolazione via afatinib in monoterapia nei - Istituto Nazionale ErbB bambini di età compresa tra 2 dei Tumori di Milano - Istituto Gianna anni e <18 anni con tumori Gaslini, Genova recidivanti/refrattari - Azienda neuroectodermici, Ospedaliero- rabdomiosarcoma e/o altri Universitaria di tumori solidi con nota Padova deregolazione della via ErbB indipendentemente dalla istologia tumorale

Eudract: 2014-002123-10 Melanoma Merck sharp & X A phase 1/2 study of Pembrolizumab X Centro coordinatore: dohme corp Pembrolizumab (MK-3475) in Ospedale Pediatrico + tumori solidi e children with advanced melanoma Bambino Gesù, Roma linfomi PD-L1+ or a PD-L1 positive advanced, relapsed or refractory solid tumor or lymphoma (KEYNOTE-051)

Eudract: 2014-002950-38

Tumori solidi positivi GlaxoSmithKline X Studio multicentrico di fase Dabrafenib X Centro coordinatore: per mut BRAF V600 1/2a, a braccio singolo, in Istituto Nazionale dei aperto, in 2 parti per Tumori di Milano determinare la sicurezza, la

tollerabilità e la farmacocinetica di dabrafenib orale in bambini e adolescenti con tumori solidi in stadio avanzato positivi alla mutazione del gene BRAF V600.

Eudract: 2012-001499-12 Tumori con Novartis X Studio di Fase I, in aperto, di LDK378 X Centro coordinatore: alterazioni di ALK incremento della dose di (Ceritinib) Istituto Nazionale dei LDK378, in pazienti pediatrici Tumori di Milano con tumori caratterizzati da

alterazioni genetiche della chinasi del linfoma anaplastico (ALK)

Numero EUDRACT: 2012- 002074-31

Tumori solidi Roche X Studio Di Fase Iniziale, Atezolizumab X Centro coordinatore: Multicentrico, In Aperto, Sulla Istituto Nazionale dei Sicurezza E La Farmacocinetica Tumori di Milano Dell'anticorpo Anti-Pd-L1 Centri partecipanti: (Mpdl3280a) In Pazienti - Azienda Ospedaliero Pediatrici E Giovani Adulti Con Universitaria di Tumori Solidi Precedentemente Padova Trattati” - Azienda Ospedaliera Numero Eudract : 2014-004697- Universitaria di 41 Torino - IRCCS Istituto Giannina Gaslini (Genova) - Ospedale Pediatrico Bambino Gesù (Roma) - Policlinico Gemelli - Roma - Azienda Ospedaliera San Gerardo (Monza) Tumori solidi Celgene X “Studio di fase 1/2, multicentrico, nab-paclitaxel X Centro coordinatore: in aperto, di definizione della dose, Istituto Nazionale dei per una valutazione della sicurezza Tumori di Milano e della tollerabilità e una valutazione preliminare Centri partecipanti: dell’efficacia di nab®-paclitaxel -Ospedale Meyer somministrato settimanalmente in (Firenze) soggetti in età pediatrica con -IRCCS Istituto tumori solidi recidivati o refrattari” Giannina Gaslini (Genova) EUDRACT: 2013-000144-26 -Azienda Ospedaliero Universitaria di

Padova -Ospedale Pediatrico Bambino Gesù Roma - Azienda Ospedaliera Universitaria di Torino Tumori solidi Roche X Studio di FASE I/II, multicentrico, Cobimetinib X Centro coordinatore: in aperto, a incremento Istituto Nazionale dei progressivo della dose, sulla Tumori di Milano sicurezza e la farmacocinetica di Centri partecipanti: Cobimetinib in pazienti - Azienda Ospedaliero pediatrici e giovani adulti con Universitaria di tumori solidi precedentemente Padova trattati - Azienda Ospedaliera EUDRACT : 2014-004685-25 Universitaria di Torino - IRCCS Istituto Giannina Gaslini (Genova) - Ospedale Pediatrico Bambino Gesù (Roma) - Policlinico Gemelli – Roma Tumori solidi Eisai Co., Ltd. X Phase 1/2 study of Lenvatinib in Lenvatinib X Centro coordinatore: children an adolescent with Ospedale Pediatrico relapsed or refractory solid Bambino Gesù, Roma malignancies Centri partecipanti: - Istituto Nazionale Eudract: 2013-005534-38 dei Tumori di Milano

Anemia falciforme AstraZeneca X Multicenter, open-label, Tigacleror X Centro coordinatore: randomised, pharmacokinetic Ospedale Pediatrico (PK) and pharmacodynamic (PD) Bambino Gesù, Roma doseranging

Phase II study of ticagrelor followed by a double-blind, randomized, parallel-group, placebo-controlled 4 weeks extension phase in pediatric patients with sickle cell disease

AstraZeneca Protocol D5136C00007

Eudract 2014-001006-18 Graft-Versus-Host Ospedale Pediatrico X Studio di fase II, multicentrico, ATG-Fresenius X Centro coordinatore: Disease Bambino Gesù, Roma randomizzato, controllato in Ospedale Pediatrico Rituximab aperto sull'impiego di siero Bambino Gesù, Roma antilinfocitario di coniglio e Centri partecipanti: rituximab per la modulazione - Ospedale San della malattia del trapianto Gerardo (Monza) contro l'ospite nel contesto del - Istituto San Raffaele trapianto allogenico di cellule di Milano staminali emopoietiche da - Ospedale Binaghi di donatore HLA compatibile in Cagliari pazienti affetti da patologie non maligne

EudraCT: 2011-004730-34

Trombosi venose Pfizer X A randomized, open-label, Apixaban X Centro coordinatore: active controlled, safety and Ospedale Pediatrico extrapolated efficacy study in Bambino Gesù, Roma pediatric patients requiring anticoagulation for the treatment of a venous thromboembolic event B0661037/CV185-325

Eudract: 2014-002606-20 Tromboembolia Boehringer Ingelheim X Studio in aperto, multicentrico, Dabigatran X Centro coordinatore: venosa randomizzato, con controllo Ospedale Pediatrico

attivo, per gruppi paralleli, di Bambino Gesù, Roma non inferiorità, con dabigatran Centri partecipanti: etexilato verso una terapia -IRCCS Fondazione standard per il trattamento della Ospedale Maggiore Policlinico di Milano tromboembolia venosa in - Università "La bambini dalla nascita fino ai 18 Sapienza" di Roma anni: studio DIVERSITY. - Ospedale Regina EudraCT: 2013-002114-12 Margherita - Sant'Anna di Torino - Policlinico P. Giaccone di Palermo Tromboembolia Boehriger Ingelheim X Studio prospettico, in aperto, Dabigatran X Centro coordinatore: venosa con dabigatran etexilato, per la Ospedale Pediatrico Bambino Gesù, Roma prevenzione secondaria della Centri partecipanti: tromboembolia venosa in - Università "La Sapienza" bambini dalla nascita fino ai 18 di Roma anni. - Ospedale Regina Margherita - Sant'Anna di Torino - Policlinico P. Giaccone di Palermo

Emorragia da AstraZeneca AB X Studio clinico in aperto, non Idarucizumab X Centro coordinatore: Dabigatran controllato, per valutare la Ospedale Pediatrico

sicurezza di una singola dose di Bambino Gesù, Roma idarucizumab, somminstrato per Centri partecipanti: via endovenosa in pazienti -IRCCS Fondazione pediatrici arruolati negli studi in Ospedale Maggiore Policlinico di Milano corso di fase IIb/III con - Università "La dabigatran etexilato per il Sapienza" di Roma trattamento e la prevenzione - Ospedale Regina secondaria del Margherita - tromboembolismo venoso. Sant'Anna di Torino - Policlinico P. Giaccone di Palermo Leucemia Mieloide Erasmus MC X A phase I/II study of Bosutinib in Bosutinib X In sottomissione in cronica pediatric patients with Chronic Italia Myeloid Leukemia who are resistant or intolerant to at least one prior Tyrosine Kinase Inhibitor therapy, ITCC- 054/AAML1621

EudraCT: 2015-002916-34

Tumori pediatrici con Erasmus MC X A phase 1B of crizotinib either in Crizotinib X In sottomissione in alterazione di ALK, combination or as single agent Italia ROS1, MET in pediatric patients with ALK, ROS1 or MET positive malignancies Study ITCC 053

EudraCT: 2015-005437-53

Leucemia Erasmus MC X A phase I/II study of Inotuzumab Inotuzumab X In sottomissione in Linfoblastica Acuta Ozogamicin as a single agent Ozogamicin Italia CD22+ and in combination with chemotherapy for pediatric CD22-positive relapsed/refractory Acute Lymphoblastic Leukemia

EudraCT: 2016-000227-71

Trial clinici farmacologici Malattie ematologiche

Unità operativa / Dipartimento /Azienda: Membri italiani pediatri dell’ GRUPPO DI MALATTIE RARE: European Reference Network in Rare Hematological Diseases di Padova, Globulo Rosso (Sickle cell disease, Thalassemia); Genova Gaslini, Firenze-Pisa, Genova Galliera, Roma Sapienza, Bari, Monza, Napoli Univ. Vanvitelli, Orbassano Torino. Insufficienze midollari (Fanconi, DBA, Neutropenie);

Trial clinici farmacologici: Malattie ematologiche

1 2 3 4 5 6 7 8 Partners Ruolo Durata Nome MR Sponsor Denominazione del Farmaco Note I N C P trial C T (anno) Sickle cell disease Eli Lilly X X H7T-MC-TADO, DOVE Prasugrel 2015 Centri Trial: A Phase 3, partecipanti: Double-Blind, Padova, Randomized, Efficacy Genova and Safety Galliera, Comparison of Monza, Prasugrel and Modena, Placebo in Pediatric Verona Patients With Sickle Cell Disease. NCT01794000 Sickle cell disease AddMedica X X ESCORT_HU Trial: Idrossiurea X Centro European Sickle Cell coordinatore: Disease Cohort – Padova Hydroxyurea. NCT02516579 Centri partecipanti: Napoli Univ Vanvitelli, Modena, Verona

Sickle cell disease Global Blood X X HOPE: A Phase 3, GBT440-131 X Centro Therapeutics Double-blind, partecipante: Randomized, Padova, Placebo-controlled, Genova Multicenter Study of Galliera GBT440 Administered Orally to Patients with Sickle Cell Disease Sickle cell disease Pfizer x x PCV13 vaccine in PCV13 2014 Phase 3 children 6-17 years with SCD Centro partecipante: Torino

Thalassemia major Celgene x x Ace 536-BTHAL001 Luspatercept x Phase 3 A Phase 3, double- Centro blind, randomized, coordinatore: placebo-controlled, Torino multicenter study to determine the Centri efficacy and safety of partecipanti: Lustatercept (ACE – Napoli Univ 536) versus placebo Vanvitelli, in adults who require Genova regular red blood cell Galliera transfusion due to Beta – Thalassemia

Thalassemia Acceleron x x Ace 536-06 Luspatercept X Phase 2 ACE-536 Extension Centro Study - Beta coordinatore: Thalassemia Torino

Centri partecipanti: Napoli Univ Vanvitelli Thalassemia Acceleron x x Ace 536-04 Luspatercept X Phase 2 Study to Evaluate the Centro Effects of ACE-536 in coordinatore: Patients With Beta- Torino thalassemia. Centri partecipanti: Napoli Univ Vanvitelli, Genova Galliera Thalassemia Celgene x x Ace 11-BTHAL001 A Sotatercept x Phase 2 Phase 2A, Open- Label, dose finding Centri study to determine partecipanti: the safety and Genova tolerability of Galliera sotatercept (ACE- 011) in adults with beta (ß)- thalassemia".

Transfusion Novartis x x CICL670F2202 DFX formulazione granulare X Phase 2 dependent anemia A randomized, open Centro label, multicenter, coordinatore: two arm, phase II Genova study to evaluate Galliera treatment compliance, efficacy Centri and safety, of an partecipanti: improved, Torino deferasirox formulation (granules) in pediatric patients with iron overload Thalassemia major Cerus x x CL00076 S-303 X Phase 2 (14.09.2 Centri 015) partecipanti: Torino Thalassemia major Shire_Ferrokin x x SPD602-301 FB50701 X Phase 3 (FBS0701-CTP-15) (2015) Studio multicentrico Centri per monitorare il partecipanti: potenziale sviluppo di Torino, tumori renali in Genova soggetti con Galliera sovraccarico di ferro trasfusionale precedentemente esposti a Deferitazole

Thalassemia major Novartis x x x CICL670F2201 DFX formulazione FCT X (2016) Phase 2 A randomized, open- Centro label, multicenter, coordinatore: two arm, phase II Napoli Univ study to investigate Vanv the benefits of an improved deferasirox formulation (film- coated tablet) – Thalassemia major Novartis x x x CICL670AIC04 DFX formulazione FCT X Phase 3 Extended Evaluation Centro of Deferasirox Film- coordinatore: Coated Tablet (FCT) Napoli Univ Formulation Vanv Thalassemia major Novartis x x DFX on renal DFX X Centro haemodynamic (2014) coordinatore: parameters Torino

Centri partecipanti: Genova Galliera

Thalassemia major x x Use of amlodipine in Amlodipine X Phase 2 addition to standard (2016) Centro chelation coordinatore: Torino

Thalassemia major Novartis X X CICL670AIT14 DFX X (2016) Centri A retrospective data partecipanti: collection study to Torino, assess the long term Napoli Univ, renal safety of Genova deferasirox in Galliera patients with transfusional hemosiderosis who were enrolled into the registration studies” Thalassemia major F.Hoffmann-La X X X BP39642 " A phase II, Bitopertin X Phase 2 Roche Ltd single arm, Centri multicenter, proof- partecipanti: of-mechanism study Genova to investigate the Galliera, safety, tolerability, Napoli Univ efficacy, Vanv pharacokinetics, and pharmacodynamics of Bitopertin (RO4917838) in adults with non- transfusion- dependent B- Thalassemia Talassemia Fondazione F. e P. x x Trial sequenziale Deferasirox/Deferiprone C Centrio Major/Emosiderosi Cutino Onlus partecipante: trasfusionale Monza

Atansferrinemia Sanquin x x MD2009.04 Apotransferrina C Centrio partecipante: Monza

Thalassemia major CVBF- CONSORZIO x x DEEP-2: Multicentre, deferiprone x Centrio PER VALUTAZIONI randomised, open partecipante: BIOLOGICHE E label, non-inferiority Firenze, FARMACOLOGICHE active-controlled trial padova to evaluate the efficacy and safety of deferiprone compared to deferasirox in paediatric patients aged from 1 month to less than 18 years of age affected by transfusion- dependent haemoglobinopathies Thalassemia major UKER- x x Deferiprone x Centro DEEP 3: Long-term Universitätsklinikum partecipante: Erlangen observational safety Firenze, study to evaluate the Padova nature and incidence of adverse effects of deferiprone treatment in patients with beta- thalassaemia major aged from 1 month to less than 18 years

ANEMIA DI FANCONI Istituto G. Gaslini X X Database Nazionale C Centri Osservazionale partecipanti: Anemia di Fanconi Genova Gaslini , Napoli Univ Vanv, Padova, Monza, APLASIA MIDOLLARE EBMT X X RACE. Studio Eltrombopag Centro ACQUISITA prospettico partecipanti: randomizzato fra IS Genova clasica (ATG+CsA) e IS Gaslini + Eltrombopag

Coagulopatia Boehringer X X 1160.106 Dabigatran exilate X Centri Ingelheim partecipanti: Genova gaslini, Roma Sapienza Malattia di Gaucher AOU Policlinico X X GAU-PED - X Centri S.Orsola-Malpighi partecipanti: Bologna Genova, Napoli Univ Vanv, Roma sapienza

Coagulazione- Baxalta US X X BAX 326. A Phase 2/3 Recombinant factor IX X (2016) Centro Emofilia Prospective, partecipante: Uncontrolled, Padova Multicenter Study Evaluating Pharmacokinetics, Efficacy, Safety, and Immunogenicity in Previously Treated Pediatric Patients With Severe (FIX Level < 1%) or Moderately Severe (FIX Level 1-2%) Hemophilia B Coagulazione- Bayer X X BAY81-8973/13400 A Recombinant Factor VIII X Centro Emofilia multi center phase III (BAY81-8973) partecipante: uncontrolled open Padova label trial to evaluate safety and efficacy of BAY81-8973 in children with severe hemophilia A under prophylaxis therapy Coagulazione-Von X X PROWILL: Efficacy, X Centro Willebrand safety and partecipante: pharmaeconomic Padova assessment of secondary long-term prophylaxis with higly purified standardized doubly virus inactivate FVIII/FvW concentrates in patients with severe inherited VWD and frequent bleeding 83

Coagulazione Baxalta US X X BAX 326 (rFIX) Recombinant Factr IX X Centro (Emofilia) Continuation Study. partecipante: BAX 326 Padova (Recombinant Factor IX): Evaluation of Safety, Immunogenicity, and Hemostatic Efficacy in Previously Treated Patients With Severe (FIX Level < 1%) or Moderately Severe (FIX Level <= 2%) Hemophilia B - A Continuation Study

Partecipazione Nazionale a ERN 1. La ricognizione dei centri pediatrici che sono stati accettati nella rete europea di riferimento (ERN) per le malattie emato-oncologiche pediatriche

Franca Fagioli Direttore SC Oncoematologia Pediatrica, Presidio Infantile Regina Margherita, AOU Città della Salute e della Scienza di Torino Presidente Associazione Italiana Ematologia e Oncologia Pediatrica (AIEOP)

Le patologie emato-oncologiche in età pediatrica sono malattie rare ma A livello nazionale da oltre 40 anni AIEOP (Associazione Italiana Ematologia rappresentano la prima causa di morte per malattia e la seconda dopo e Oncologia Pediatrica), riunisce medici, ricercatori e operatori sanitari che cause esterne. si dedicano allo studio e alla cura dei tumori pediatrici. L’obiettivo principale dell’Associazione è il miglioramento dei risultati nel trattamento Il rischio cumulativo di patologia oncologica fra 0 e 14 anni è di 2,4‰ cioé 1 delle patologie oncoematologiche e della qualità dell’assistenza tramite la su 413 nuovi nati si ammaleranno di tumore prima di compiere 15 anni. promozione della ricerca, l’elaborazione e l’applicazione di protocolli L’incidenza dei tumori negli adolescenti è maggiore di quella registrata nei comuni nazionali e internazionali, la divulgazione della conoscenza in bambini di 0-14 anni, in particolare, è del 30% superiore a quella dei questo campo, la formazione degli operatori e la collaborazione con le bambini al di sotto di 5 anni e quasi il doppio rispetto ai bambini di età 5-9 e associazioni dei genitori e di volontariato. 10-14 anni. I centri AIEOP sono strutture del SSN dedicate al trattamento delle I tumori pediatrici più comuni sono le leucemie, i tumori del sistema patologie oncoematologiche in età pediatrica e costituiscono una rete che nervoso centrale e i linfomi. I tumori più frequenti negli adolescenti sono i condivide protocolli di diagnosi e terapia e progetti di ricerca. Le funzioni linfomi di Hodgkin, seguiti da tumori della tiroide, leucemie, tumori delle essenziali dei Centri AIEOP sono la presa in carico multidisciplinare di tutti i cellule germinali, linfomi non-Hodgkin, tumori del sistema nervoso centrale, pazienti (diagnosi, terapia, fuori terapia) e il coordinamento dell’attività sarcomi delle parti molli e tumori dell’osso. I tumori pediatrici e degli assistenziale globale tramite la collaborazione con il territorio e con le adolescenti presentano caratteristiche biologiche e cliniche diverse dai Associazioni di Volontariato. La rete AIEOP è costituita da 53 Centri diffusi tumori dell’adulto. su tutto il territorio Nazionale allo scopo di permettere il trattamento del Da molti anni gli oncologi pediatri hanno attivato collaborazioni a livello paziente il più possibile vicino al domicilio della famiglia, garantendo nazionale e internazionale al fine di condurre studi clinici rilevanti. Queste l’uniformità del trattamento. reti scientifiche e cliniche hanno permesso di ottenere risultati significativi A livello internazionale è stata recentemente istituita una rete di nell’ambito dell’oncologia pediatrica. riferimento europea per i tumori pediatrici (EuroPaedCan) coordinata dalla 85 prof. Ruth Ladenstein (St. Anna Kinderspital & St. Anna Questa rete include 57 Centri di 17 diverse Nazioni Europee. I Centri Italiani Kinderkrebsforschung, Austria) per garantire l’accesso a tutti i pazienti che hanno ottenuto l’endorsement ministeriale sono 9 e rappresentano i pediatrici con patologia emato-oncologica a Centri altamente specializzati principali Centri AIEOP che gestiscono il maggior numero di pazienti nella gestione e cura di queste patologie. pediatrici italiani affetti da patologia emato-oncologica ed alcuni Centri con elevata competenza per specifiche patologie (es. il Centro di Siena per il Questa rete nasce grazie alle precedenti esperienze di progetti europei retinoblastoma). (ENCCA, PanCare e ExPO-r-Net) e prevede, mediante la collaborazione tra i diversi Centri Europei con specifiche e comprovate competenze, di garantire uniformità di cure e ridurre le disuguaglianze nell’erogazione dei servizi tra i diversi stati europei.

Centro IRCCS Institute Giannina Gaslini - Genoa Oncoematologia Pediatrica AOU Meyer - Florence Oncoematologia Pediatrica Pediatric Hospital Bambino Gesù, Rome Oncoematologia Pediatrica/retinoblastoma MBBM Foundation – pediatrics – S.Gerardo hospital, Monza Oncoematologia Pediatrica AO Padua Oncoematologia Pediatrica AOU Siena Oncoematologia Pediatrica/retinoblastoma AO City of Health and Science - Turin Oncoematologia Pediatrica AOU - Perugia Oncoematologia Pediatrica Foundation IRCCS Polyclinic San Matteo, Pavia Oncoematologia Pediatrica

2. La ricognizione dei centri pediatrici italiani in EuroBloodNet

Silverio Perrotta Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Uniuversità degli studi della Campania “L. Vanvitelli”, Napoli

EuroBloodNet è il nome con il quale è stata identificata l’ERN delle malattie • Ventuno centri Italiani sono entrati a far parte di tale ERN : AOU ematologiche rare (European Reference Network in Rare Hematological Università della Campania “L. Vanvitelli, Università Federico II, Diseases). Tale ERN, coordinata dal Prof. Pierre Fenaux dell’Ospedale di Università Padova, Pavia, Verona, Siena, Careggi, San Luigi Gonzaga, Saint Louis di Parigi, è suddivisa in due hub: Policlinico Umberto I, Modena, Bari, Gemelli, Ospedale Maggiore, San Gerardo, Vicenza, Bergamo, Firenze/Pisa, Galliera, Ospedale 1) malattie oncologiche della serie mielode e linfoide, di pertinenza Cervello, Istituto Gaslini e Rozzano. dell’adulto e • Sette pediatri sono responsabili di tali centri e 9 pediatri sono 2) malattie non oncologiche che comprendono le patologie del Globulo indicati come vice. Inoltre i pediatri hanno avuto anche la Rosso, le insufficienze midollari, le alterazioni della coagulazione ed i responsabilità di subnetwork e di alcuni argomenti trasversali alle disordini ereditari del metabolismo del ferro. varie discipline ematologiche dell’ERN.

Malattie rare in età pediatrica: Ricerca, farmaci orfani e reti europee di riferimento

Malattie nefrologiche pediatriche A cura della Società Italiana di Nefrologia Pediatrica - SINEPE (Presidente: Luisa Murer)

Francesco Emma Luisa Murer Carmine Pecoraro

Pubblicazioni Malattie Nefrologiche Pediatriche

Carmine Pecoraro

Premessa fondamentale per una analisi dettagliata e il reporting fedele e il delle malattie renali del bambino. Diversi e assolutamente più più esaustivo possibile della ricerca sulle malattie renali rare che viene rappresentativi della ampia ed eterogenea gamma delle malattie renali svolta in Italia nel bambino, dai principali centri di Nefrologia Pediatrica, e sono stati i criteri che hanno informato la indagine tra i paesi europei che il della relativa produzione scientifica, è chiarire la differenza di coordinatore della ERKnet, Franz Schaefer di Heidelberg, ha condotto per identificazione di malattia renale rara come definita nell’ “Elenco delle individuare i centri che soddisfacessero i requisiti minimi di qualità Malattie Rare esente da Ticket” pubblicato dal Centro Nazionale Malattie dell’assistenza e della ricerca da ammettere nella rete stessa. Sono stati Rare dell’ISS (www.iss.it/cnmr) in base al DM 279/2001 e le categorie individuate 10 categorie di malattia, es. Hereditary Glomerulopathies, individuate dalla European Renal Network per le malattie renali rare Immunological Glomerulopathies, Tubulopathies, etc, includendo anche (ERKnet). Nel datato elenco le malattie sono indicate, una ad una, con un condizioni come Pediatric kidney TX e Pediatric Chronic Kidney Disease 3-5 codice di raggruppamento di organo e/o apparato che, alla luce delle nuove and Dialysis. Sono stati ammessi, alla fine delle procedure, 39 Health Care conoscenze, sono, non di rado, collocate nel gruppo sbagliato oltre al fatto Providers, tra centri esclusivamente padiatrici e centri adulti, con diverso di essere sottorappresentate in misura significativa. numero di categorie di malattia. Orbene, il report dello stato dell’arte della produzione scientifica più recente e sullo sviluppo dei farmaci orfani per le Anche gli aggiornamenti più recenti effettuati dalle regioni, come quello malattie renali rare con la partecipazione alle sperimentazioni di gruppi fatto dalla regione Campania, sono insufficienti a coprire l’intero spettro italiani, verrà condotto ispirandosi alle categorie comprese nella ERKnet.

Pubblicazioni BERGAMO, Mario Negri

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Iatropoulos P, *Noris M*, Mele C, Complement gene variants G.Mol Immunol. 2016 Piras R, Valoti E, Bresin E, Curreri M, determine the risk of Mondo E, Zito A, Gamba S, Bettoni S, immunoglobulin-associated MPGN Murer L, Fremeaux-Bacchi V, Vivarelli and C3 glomerulopathy and M, Emma F, Daina E, Remuzzi predict long-term renal outcome. Peyvandi F, Rossio R, Ferrari B, Lotta Thrombotic microangiopathy J Thromb Haemost. 2016 LA, Pontiggia S, Ghiringhelli Borsa N, without renal involvement: two

Pizzuti M, Donadelli R, Piras R, Cugno novel mutations in complement- M, *Noris M*. regulator genes. Coppo R, Bonaudo R, Peruzzi RL, Liver transplantation for aHUS: Pediatr Nephrol. 2016 Amore A, Brunati A, Romagnoli R, still needed in the eculizumab era?

Salizzoni M, Galbusera M, Gotti E, Daina E, *Noris M*, Remuzzi G. Pecoraro C, Ferretti AV, Rurali E, Treatment of Congenital Kidney Dis. 2015 Galbusera M, *Noris M*, Remuzzi G. Thrombotic Thrombocytopenic Am J Purpura With Eculizumab.

Recalde S, Tortajada A, Subias M, Molecular Basis of Factor H J Am Soc Nephrol. 2016 Anter J, Blasco M, Maranta R, Coco R, R1210C Association with Ocular

Pinto S, *Noris M*, García-Layana A, and Renal Diseases. Rodríguez de Córdoba S.

Rurali E, Banterla F, Donadelli R, ADAMTS13 Secretion and Residual J Am Soc Nephrol. 2015 Bresin E, Galbusera M, Gastoldi S, Activity among Patients with Peyvandi F, Underwood M, Remuzzi Congenital Thrombotic G, *Noris M*.Clin Thrombocytopenic Purpura with and without Renal Impairment. *Noris M*, Remuzzi G. Am Glomerular Diseases Dependent J Kidney Dis. 2015 on Complement Activation, Including Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis, and C3 Glomerulopathy: Core Curriculum 2015.

Zipfel PF, Skerka C, Chen Q, Wiech T, The role of complement in C3 Mol Immunol. 2015 Goodship T, Johnson S, Fremeaux- glomerulopathy.

Bacchi V, Nester C, de Córdoba SR, *Noris M*, Pickering M, Smith R. Mele C, Lemaire M, Iatropoulos P, Characterization of a New DGKE J Am Soc Nephrol. 2015 Piras R, Bresin E, Bettoni S, Bick D, Intronic Mutation in Genetically Helbling D, Veith R, Valoti E, Donadelli Unsolved Cases of Familial

R, Murer L, Neunhäuserer M, Breno Atypical Hemolytic Uremic M, Frémeaux-Bacchi V, Lifton R, Syndrome. Remuzzi G, *Noris M*.Clin Nester CM, Barbour T, de Cordoba SR, Atypical aHUS: State of the art. Mol Immunol. 2015 Dragon-Durey MA, Fremeaux-Bacchi V, Goodship TH, Kavanagh D, *Noris M*, Pickering M, Sanchez-Corral P, Skerka C, Zipfel P, Smith RJ. Schramm EC, Roumenina LT, Rybkine Mapping interactions between Blood. 2015 T, Chauvet S, Vieira-Martins P, Hue C, complement C3 and regulators Maga T, Valoti E, Wilson V, Jokiranta using mutations in atypical S, Smith RJ, *Noris M*, Goodship T, hemolytic uremic syndrome. Atkinson JP, Fremeaux-Bacchi V.

Coppo R, Peruzzi L, Amore A, Martino Dramatic effects of eculizumab in Pediatr Nephrol. 2015 S, Vergano L, Lastauka I, Schieppati A, a child with diffuse proliferative

*Noris M*, Tovo PA, Remuzzi G. lupus nephritis resistant to conventional therapy. Noris M*, Galbusera M, Gastoldi S, Dynamics of complement Blood. 2014 Macor P, Banterla F, Bresin E, Tripodo activation in aHUS and how to C, Bettoni S, Donadelli R, Valoti E, monitor eculizumab therapy Tedesco F, Amore A, Coppo R, Ruggenenti P, Gotti E, Remuzzi G. Valoti E, Alberti M, Tortajada A, A novel atypical hemolytic uremic J Am Soc Nephrol. 2015 Garcia-Fernandez J, Gastoldi S, Besso syndrome-associated hybrid L, Bresin E, Remuzzi G, Rodriguez de CFHR1/CFH gene encoding a

Cordoba S, *Noris M*. fusion protein that antagonizes factor H-dependent complement regulation. Marinozzi MC, Vergoz L, Rybkine T, Complement factor B mutations in J Am Soc Nephrol. 2014 Ngo S, Bettoni S, Pashov A, Cayla M, atypical hemolytic uremic Tabarin F, Jablonski M, Hue C, Smith syndrome-disease-relevant or

RJ, *Noris M*, Halbwachs-Mecarelli L, benign? Donadelli R, Fremeaux-Bacchi V, Roumenina LT.

OSPEDALE PEDIATRICO BAMBINO GESU’ - ROMA

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Cystinosis Taranta A, Bellomo F, Petrini S, Cystinosin-LKG Rescues Cystine Pediatr Res. 81(1-1):113- 2017 2,76 Polishchuk E, De Leo E, Rega LR, Accumulation and Decreases 119. Pastore A, Polishchuk R, De Matteis Apoptosis Rate in Cystinotic MA, Emma F Proximal Tubular Epithelial Cells Data From the European Society for Kidney Versus Combined Kidney Am J Kidney Dis. 2016 Pediatric Nephrology/European and Liver Transplantation in Renal Association-European Dialysis Young People With Autosomal 92

and Transplant (ESPN/ERA-EDTA) Recessive Polycystic Kidney Registry. Mekahli D, van Stralen KJ, Disease: Bonthuis M, Jager KJ, Balat A, Benetti E, Godefroid N, Edvardsson VO, Heaf JG, Jankauskiene A, Kerecuk L, Marinova S, Puteo F, Seeman T, Zurowska A, Pirenne J, Schaefer F, Groothoff JW; ESPN/ERA-EDTA Registry Cystinosis Bellomo F, Taranta A, Petrini S, Carboxyl-Terminal SSLKG Motif of PLoS One. 2016 3,06 Venditti R, Rocchetti MT, Rega LR, the Human Cystinosin-LKG Plays 11(5):e0154805. Corallini S, Gesualdo L, De Matteis an Important Role in Plasma MA, Emma F Membrane Sorting Cystinosis Rega LR, Polishchuk E, Montefusco S, Activation of the transcription Kidney Int. 89(4):862-73. 2016 7,68 Napolitano G, Tozzi G, Zhang J, factor EB rescues lysosomal Bellomo F, Taranta A, Pastore A, abnormalities in cystinotic kidney Polishchuk R, Piemonte F, Medina cells DL, Catz SD, Ballabio A, Emma F Idiopathic Colucci M, Carsetti R, Cascioli S, B Cell Reconstitution after J Am Soc Nephrol. 2016 9,34 Nephrotic Casiraghi F, Perna A, Ravà L, Rituximab Treatment in 27(6):1811-22. Syndrome Ruggiero B, Emma F, Vivarelli M Idiopathic Nephrotic Syndrome Renal disease, Emma F, Montini G, Parikh SM, Mitochondrial dysfunction in Nat Rev Nephrol. 2016 9,46 general Salviati L inherited renal disease and acute 12(5):267-80. kidney injury Vivarelli M, Massella L, Ruggiero B, Minimal Change Disease. Clin J Am Soc Nephrol. 2016 Emma F.

Dolcemascolo V, Vivarelli M, Colucci Nephrotic-Range Proteinuria and Case Rep Nephrol Dial. 2016 M, Diomedi-Camassei F, Piras R, Peripheral Edema in a Child: Not Alberti M, Emma F. Only Idiopathic Nephrotic Syndrome

Bacchetta J, Greco M, Bertholet- Skeletal implications and Rep. 2016 2016 Thomas A, Nobili F, Zustin J, Cochat management of cystinosis: three

P, Emma F, Boivin G. Bonekey case reports and literature review. an Coppo R, Lofaro D, Camilla RR, 7. Risk factors for progression in Pediatr Nephrol. 2017 2016 Bellur S, Cattran D, Cook HT, Roberts children and young adults with Jan;32(1):139-150. IS, Peruzzi L, Amore A, Emma F, IgA nephropathy: analysis of 261 Erratum in: Pediatr Fuiano L, Berg U, Topaloglu R, cases from the VALIGA European Nephrol Bilginer Y, Gesualdo L, Polci R, cohort Mizerska-Wasiak M, Caliskan Y, Lundberg S, Cancarini G, Geddes C, Wetzels J, Wiecek A, Durlik M, Cusinato S, Rollino C, Maggio M,

Praga M, K Smerud H, Tesar V, Maixnerova D, Barratt J, Papalia T, Bonofiglio R, Mazzucco G, Giannakakis C, Soderberg M, Orhan D, Di Palma AM, Maldyk J, Ozluk Y, Sudelin B, Tardanico R, Kipgen D, Steenbergen E, Karkoszka H, Perkowska-Ptasinska A, Ferrario F, Gutierrez E, Honsova E. Ruggiero B, Vivarelli M, Gianviti A, Outcome of childhood-onset full- Nephrol Dial Transplant. 2016 Pecoraro C, Peruzzi L, Benetti E, house nephropathy.

Ventura G, Pennesi M, Murer L, Coppo R, Emma F . Langman CB, Barshop BA, Controversies and research Kidney Int. 2016 Jun 2016 Deschênes G, Emma F, Goodyer P, agenda in nephropathic Lipkin G, Midgley JP, Ottolenghi C, cystinosis: conclusions from a

Servais A, Soliman NA, Thoene JG, "Kidney Disease: Improving Levtchenko EN; Conference Global Outcomes" (KDIGO) Participants. Controversies Conference

Bellomo F, Taranta A, Petrini S, Carboxyl-Terminal SSLKG Motif of PLoS One. 2016 May 2016 Venditti R, Rocchetti MT, Rega LR, the Human Cystinosin-LKG Plays

Corallini S, Gesualdo L, De Matteis an Important Role in Plasma MA, Emma F Membrane Sorting. Rega LR, Polishchuk E, Montefusco S, Activation of the transcription Kidney Int. 2016 2016 Napolitano G, Tozzi G, Zhang J, factor EB rescues lysosomal Bellomo F, Taranta A, Pastore A, abnormalities in cystinotic kidney Polishchuk R, Piemonte F, Medina cells. DL, Catz SD, Ballabio A, Emma F Gansevoort RT, Arici M, Benzing T, Recommendations for the use of Nephrol Dial Transplant 2016 Birn H, Capasso G, Covic A, Devuyst tolvaptan in autosomal dominant O, Drechsler C, Eckardt KU, Emma F, polycystic kidney disease: a Knebelmann B, Le Meur Y, Massy ZA, position statement on behalf of Ong AC, Ortiz A, Schaefer F, Torra R, the ERA-EDTA Working Groups on Vanholder R, Więcek A, Zoccali C, Inherited Kidney Disorders and Van Biesen W. European Renal Best Practice. Iatropoulos P, Noris M, Mele C, Piras Complement gene variants Mol Immunol. 2016 2016 R, Valoti E, Bresin E, Curreri M, determine the risk of Mondo E, Zito A, Gamba S, Bettoni S, immunoglobulin-associated

Murer L, Fremeaux-Bacchi V, MPGN and C3 glomerulopathy Vivarelli M, Emma F, Daina E, and predict long-term renal Remuzzi G outcome Emma F, Montini G, Parikh SM, Mitochondrial dysfunction in Nat Rev Nephrol. 2016 2016 Salviati L. inherited renal disease and acute kidney injury Barbour SJ, Espino-Hernandez G, The MEST score provides earlier Kidney Int. 2016 Reich HN, Coppo R, Roberts IS, risk prediction in lgA Feehally J, Herzenberg AM, Cattran nephropathy. DC; Oxford Derivation, North

American Validation and VALIGA Consortia.; Oxford Derivation North American Validation and VALIGA Consortia

Santilli V, Cagigi A, Guzzo I, Rinaldi S, Cellular immune profile of kidney Pediatr Nephrol. 2016 Mora N, Zotta F, Piazza A, Rossi P, transplant patients developing

Emma F, Dello Strologo L, Palma P. anti-HLA antibodies during childhood. Chinali M, Emma F, Esposito C, Left Ventricular Mass Indexing in J Pediatr. 2016 Rinelli G, Franceschini A, Doyon A, Infants, Children, and Raimondi F, Pongiglione G, Schaefer Adolescents: A Simplified

F, Matteucci MC Approach for the Identification of Left Ventricular Hypertrophy in Clinical Practice. Feehally J, Coppo R, Troyanov S, Tonsillectomy in a European VALIGA study of ERA- 2016 Bellur SS, Cattran D, Cook T, Roberts Cohort of 1,147 Patients with IgA EDTA Immunonephrology IS, Verhave JC, Camilla R, Vergano L, Nephropathy. Working Group. Nephron Egido J, Wiecek A, Karkoszka H, Tesar V, Maixnerova D, Ots- Rosenberg M, Quaglia M, Rollino C, Magistroni R, Cusinato S, Cravero R, Peruzzi L, Lundberg S, Gesualdo L, Cancarini G, Feriozzi S, Ferrario F Colucci M, Carsetti R, Cascioli S, B Cell Reconstitution after J Am Soc Nephrol. 2016 Rituximab Treatment in Casiraghi F, Perna A, Ravà L, Ruggiero B, Emma F, Vivarelli M Idiopathic Nephrotic Syndrome de Galasso L, Emma F, Picca S, Di Continuous renal replacement Pediatr Nephrol. 2016 Nardo M, Rossetti E, Guzzo I. therapy in children: fluid overload

does not always predict mortality. Korkmaz E, Lipska-Ziętkiewicz BS, ADCK4-Associated J Am Soc Nephrol. 2016 Boyer O, Gribouval O, Fourrage C, Glomerulopathy Causes Tabatabaei M, Schnaidt S, Gucer S, Adolescence-Onset FSGS Kaymaz F, Arici M, Dinckan A, Mir S,

Bayazit AK, Emre S, Balat A, Rees L, Shroff R, Bergmann C, Mourani C, Antignac C, Ozaltin F, Schaefer F; PodoNet Consortium. 96

Loirat C, Fakhouri F, Ariceta G, An international consensus HUS International. 2016 Besbas N, Bitzan M, Bjerre A, Coppo approach to the management of Pediatr Nephrol R, Emma F, Johnson S, Karpman D, atypical hemolytic uremic Landau D, Langman CB, Lapeyraque syndrome in children.

AL, Licht C, Nester C, Pecoraro C, Riedl M, van de Kar NC, Van de Walle J, Vivarelli M, Frémeaux- Bacchi V Brugnara M, Charrow J, Colin E, Increased Wnt and Notch Orphanet J Rare Dis. 2016 Davis A, Deschenes G, Gentile M, signaling: a clue to the renal Giordano M, Gormley AK, Govender disease in Schimke immuno- R, Joseph M, Keller K, Lerut E, osseous dysplasia?

Levtchenko E, Massella L, Mayfield C, Najafian B, Parham D, Spranger J, Stenzel P, Yis U, Yu Z, Zonana J, Hendson G, Boerkoel CF Goodship TH, Cook HT, Fakhouri F, Atypical hemolytic uremic Kidney Int. 2016 Fervenza FC, Frémeaux-Bacchi V, syndrome and C3 Kavanagh D, Nester CM, Noris M, glomerulopathy: conclusions Pickering MC, Rodríguez de Córdoba from a "Kidney Disease: S, Roumenina LT, Sethi S, Smith RJ; Improving Global Outcomes" Conference Participants. (KDIGO) Controversies Conference Briggs TA, Rice GI, Adib N, Ades L, Erratum to: . J Clin Immunol. 2016 Barete S, Baskar K, Baudouin V, Spondyloenchondrodysplasia Due Cebeci AN, Clapuyt P, Coman D, De to Mutations in ACP5: A Somer L, Finezilber Y, Frydman M, Comprehensive Survey Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ

Shroff R, Aitkenhead H, Costa N, Normal 25-Hydroxyvitamin D J Am Soc Nephrol. 2016 Trivelli A, Litwin M, Picca S, Anarat A, Levels Are Associated with Less Sallay P, Ozaltin F, Zurowska A, Proteinuria and Attenuate Renal

Jankauskiene A, Montini G, Charbit Failure Progression in Children M, Schaefer F, Wühl E; ESCAPE Trial with CKD. Shroff Group Strambi M, Giussani M, Ambruzzi Novelty in hypertension in J Pediatr. 2016 MA, Brambilla P, Corrado C, children and adolescents: focus Giordano U, Maffeis C, Maringhin S, on hypertension during the first Matteucci MC, Menghetti E, Salice P, year of life, use and Schena F, Strisciuglio P, Valerio G, interpretation of ambulatory

Viazzi F, Virdis R, Genovesi S. Ital blood pressure monitoring, role of physical activity in prevention and treatment, simple carbohydrates and uric acid as risk factors Vidal E, van Stralen KJ, Chesnaye NC, Infants Requiring Maintenance Am J Kidney Dis 2016 Bonthuis M, Holmberg C, Zurowska Dialysis: Outcomes of A, Trivelli A, Da Silva JE, Herthelius Hemodialysis and Peritoneal M, Adams B, Bjerre A, Jankauskiene Dialysis. A, Miteva P, Emirova K, Bayazit AK, Mache CJ, Sánchez-Moreno A, Harambat J, Groothoff JW, Jager KJ, Schaefer F, Verrina E; ESPN/ERA- EDTA Registry Dionisi-Vici C, Diodato D, Torre G, Liver transplant in ethylmalonic Brain. 2016 2016 Picca S, Pariante R, Giuseppe Picardo encephalopathy: a new

S, Di Meo I, Rizzo C, Tiranti V, Zeviani treatment for an otherwise fatal M, De Ville De Goyet J. Brain disease Hogan J, Couchoud C, Bonthuis M, Gender Disparities in Access to Am J Transplant. 2016 Groothoff JW, Jager KJ, Schaefer F, Pediatric Renal Transplantation in

Van Stralen KJ; ESPN/ERA-EDTA Europe: Data From the Registry ESPN/ERA-EDTA Registry

Paglialonga F, Consolo S, Pecoraro C, Chronic haemodialysis in small Pediatr Nephrol. 2016 Vidal E, Gianoglio B, Puteo F, Picca S, children: a retrospective study of

Saravo MT, Edefonti A, Verrina E the Italian Pediatric Dialysis Registry Tjaden LA, Noordzij M, van Stralen Racial Disparities in Access to and Am J Kidney Dis 2016 KJ, Kuehni CE, Raes A, Cornelissen Outcomes of Kidney EA, O'Brien C, Papachristou F, Transplantation in Children, Schaefer F, Groothoff JW, Jager KJ; Adolescents, and Young Adults: ESPN/ERA-EDTA Registry Study Results From the ESPN/ERA-EDTA

Group. (European Society of Pediatric Nephrology/European Renal Association-European Dialysis and Transplant Association) Registry. Krischock LA, van Stralen KJ, Verrina Anemia in children following Pediatr Nephrol. 2016 E, Tizard EJ, Bonthuis M, Reusz G, renal transplantation-results from Hussain FK, Jankauskiene A, Novljan the ESPN/ERA-EDTA Registry.

G, Spasojević-Dimitrijeva B, Podracka L, Zaller V, Jager KJ, Schaefer F; ESPN/ERA-EDTA Registry . Lofaro D, Jager KJ, Abu-Hanna A, Identification of subgroups by risk Nephrol Dial Transplant 2016 Groothoff JW, Arikoski P, Hoecker B, of graft failure after paediatric Roussey-Kesler G, Spasojević B, renal transplantation: application Verrina E, Schaefer F, van Stralen KJ; of survival tree models on the ESPN/ERA-EDTA Registry ESPN/ERA-EDTA Registry Shroff R, Aitkenhead H, Costa N, Normal 25-Hydroxyvitamin D . J Am Soc Nephrol. 2016 Trivelli A, Litwin M, Picca S, Anarat A, Levels Are Associated with Less Sallay P, Ozaltin F, Zurowska A, Proteinuria and Attenuate Renal

Jankauskiene A, Montini G, Charbit Failure Progression in Children M, Schaefer F, Wühl E; ESCAPE Trial with CKD. Group Dello Strologo L, Murer L, Guzzo I, Renal transplantation in Nephrol Dial Transplant 2016 Morolli F, Pipicelli AM, Benetti E, Longo sensitized children and young G, Testa S, Ricci A, Ginevri F, Ghio L, adults: a nationwide approach. Cardillo M, Piazza A, Nanni Costa A

Rocca S, Santilli V, Cotugno N, Waning of vaccine-induced Medicine (Baltimore). 2016 Concato C, Manno EC, Nocentini G, immunity to measles in kidney 2016 Sep

Macchiarulo G, Cancrini C, Finocchi transplanted children. A, Guzzo I, Dello Strologo L, Palma P. Höcker B, Zencke S, Krupka K, Cytomegalovirus Infection in Transplantation 2016 Fichtner A, Pape L, Dello Strologo L, Pediatric Renal Transplantation Guzzo I, Topaloglu R, Kranz B, König and the Impact of J, Bald M, Webb NJ, Noyan A, Chemoprophylaxis With (Val-

Dursun H, Marks S, Yalcinkaya F, )Ganciclovir Thiel F, Billing H, Pohl M, Fehrenbach H, Bruckner T, Tönshoff B Höcker B, Zencke S, Pape L, Krupka Impact of Everolimus and Low- . Am J Transplant. 2016 K, Köster L, Fichtner A, Dello Dose Cyclosporin on Strologo L, Guzzo I, Topaloglu R, Cytomegalovirus Replication and Kranz B, König J, Bald M, Webb NJ, Disease in Pediatric Renal

Noyan A, Dursun H, Marks S, Transplantation. Ozcakar ZB, Thiel F, Billing H, Pohl M, Fehrenbach H, Schnitzler P, Bruckner T, Ahlenstiel-Grunow T, Tönshoff B. Chronic kidney Chinali M, Matteucci M, Franceschini Advanced parameters of cardiac Clin J Am Soc Nephrol. 2015 4,61 disease A, Doyon A, Pongiglione G, Rinelli G, mechanics in children with CKD: 10(8):1357-63. Schaefer F The 4C study Cystinosis Conforti A, Taranta A, Biagini S, Starc Cysteamine treatment restores J Transl Med. 13:143. 2015 3,93 N, Pitisci A, Bellomo F, Cirillo V, the in vitro ability to differentiate Locatelli F, Bernardo M, Emma F along the osteoblastic lineage of mesenchymal stromal cells isolated from bone marrow of a cystinotic patient Nephropathy Vivarelli M, Emma F, Pellé T, Gerken Genetic homogeneity but IgG Kidney Int. 87(3):602-9. 2015 8,56 C, Pedicelli S, Diomedi-Camassei F, subclass-dependent clinical Klaus G, Waldegger S, Ronco P, variability of alloimmune Debiec H membranous nephropathy with anti-neutral endopeptidase antibodies 100

Colucci M, Stöckmann H, Butera A, Sialylation of N-linked glycans J Immunol 2015 Masotti A, Baldassarre A, Giorda E, influences the

Petrini S, Rudd PM, Sitia R, Emma F, immunomodulatory effects of Vivarelli M. IgM on T cells. Tesar V, Troyanov S, Bellur S, Corticosteroids in IgA . J Am Soc Nephrol. 2015 Verhave JC, Cook HT, Feehally J, Nephropathy: A Retrospective Roberts IS, Cattran D, Coppo R; Analysis from the VALIGA Study. Trautmann A, Bodria M, Ozaltin F, Spectrum of Steroid-Resistant J Am Soc Nephrol. 2015 Gheisari A, Melk A, Azocar M, Anarat and Congenital Nephrotic A, Caliskan S, Emma F, Gellermann J, Syndrome in Children: The Oh J, Baskin E, Ksiazek J, Remuzzi G, PodoNet Registry Cohort. Erdogan O, Akman S, Dusek J, Davitaia T, Özkaya O, Papachristou F,

Firszt-Adamczyk A, Urasinski T, Testa S, Krmar RT, Hyla-Klekot L, Pasini A, Özcakar ZB, Sallay P, Cakar N, Galanti M, Terzic J, Aoun B, Caldas Afonso A, Szymanik-Grzelak H, Lipska BS, Schnaidt S, Schaefer F; Vivarelli M, Emma F, Pellé T, Gerken Genetic homogeneity but IgG Kidney Int. 2015 C, Pedicelli S, Diomedi-Camassei F, subclass-dependent clinical Klaus G, Waldegger S, Ronco P, variability of alloimmune

Debiec H membranous nephropathy with anti-neutral endopeptidase antibodies Rosado MM, Bernardo ME, Scarsella Inhibition of B-cell proliferation Stem Cells Dev. 2015 M, Conforti A, Giorda E, Biagini S, and antibody production by Cascioli S, Rossi F, Guzzo I, Vivarelli mesenchymal stromal cells is M, Dello Strologo L, Emma F, mediated by T cells. Locatelli F, Carsetti R. Chronic Claps A, Della Corte M, Gerocarni How should eosinophilic cystitis Pediatr Nephrol. 2014 0 see granulomatosis Nappo S, Francalanci P, Palma P, be treated in patients with 9(11):2229-33. IMMUNOLOGICAL Finocchi A chronic granulomatous disease?

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Cystinosis Emma F, Nesterova G, Langman C, Nephropathic cystinosis: an NEPHROLOGY DIALYSIS 2014 3,49 see METABOLIC Labbé A, Cherqui S. Goodyer P, international consensus TRANSPLANTATION Janssen M, Greco M, Topaloglu R, document. Elenberg E, Dohil R, Trauner D, Antignac C, Cochat P, Kaskel F, Servais A, Wühl E, Niaudet P, Van't Hoff W, Gahl W, Levtchenko E Cystinosis Prencipe G, Caiello I, Cherqui S, Inflammasome activation by J Am Soc Nephrol. 2014 9,47 see METABOLIC Whisenant T, Petrini S, Emma F, De cystine crystals: implications for 25(6):1163-9. Benedetti F the pathogenesis of cystinosis Glomerulopathy Vivarelli M and Emma F Treatment of C3 glomerulopathy Semin Thromb Hemost. 2014 3,69 with complement blockers 40(4):472-7. Emma F.Masotti A, Laurenzi C, Gender-related effects on urine L- Amino Acids 2014 Boenzi S, Pastore A, Taranta A, cystine metastability. Bellomo F, Muraca M, Dionisi-Vici C, Bertucci P, Dello Strologo L, Picca S, Dionisi-Vici C, Bartuli A, De Short-term survival of Pediatr Nephrol 2014 Palo T, Papadia F, Montini G, hyperammonemic neonates Materassi M, Donati MA, Verrina E, treated with dialysis. Schiaffino MC, Pecoraro C, Iaccarino E, Vidal E, Burlina A, Emma F. Maiorana A, Malamisura M, Emma Early effect of NTBC on renal Mol Genet Metab 2014 F, Boenzi S, Di Ciommo VM, Dionisi- tubular dysfunction in hereditary Vici C. tyrosinemia type 1 Spithoven EM, Kramer A, Meijer E, Renal replacement therapy for Nephrol Dial Transplant 2014 Orskov B, Wanner C, Abad JM, autosomal dominant polycystic Aresté N, de la Torre RA, Caskey F, kidney disease (ADPKD) in Couchoud C, Finne P, Heaf J, Europe: prevalence and survival-- Hoitsma A, de Meester J, Pascual J, an analysis of data from the ERA- Postorino M, Ravani P, Zurriaga O, EDTA Registry Jager KJ, Gansevoort RT; ERA-EDTA Registry; EuroCYST Consortium; WGIKD

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Bushby K, Finkel R, Wong B, Barohn Ataluren treatment of patients Muscle Nerve 2014 R, Campbell C, Comi GP, Connolly with nonsense mutation AM, Day JW, Flanigan KM, Goemans dystrophinopathy N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee

Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM Maiorana A, Vergine G, Coletti V, Acute thiamine deficiency and Nutrition 2014 Luciani M, Rizzo C, Emma F, Dionisi- refeeding syndrome: Similar

Vici C. Nutrition findings but different pathogenesis. . Devuyst O, Knoers NV, Remuzzi G, Rare inherited kidney diseases: Lancet 2014 Schaefer F challenges, opportunities, and perspectives Spithoven EM, Kramer A, Meijer E, Analysis of data from the ERA- Kidney Int. 2014 Orskov B, Wanner C, Caskey F, EDTA Registry indicates that Collart F, Finne P, Fogarty DG, conventional treatments for Groothoff JW, Hoitsma A, Nogier chronic kidney disease do not

MB, Postorino M, Ravani P, Zurriaga reduce the need for renal O, Jager KJ, Gansevoort RT replacement therapy in autosomal dominant polycystic kidney disease

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Coppo R, Troyanov S, Bellur S, Validation of the Oxford Kidney Int. 2014 Cattran D, Cook HT, Feehally J, classification of IgA nephropathy Roberts IS, Morando L, Camilla R, in cohorts with different Tesar V, Lunberg S, Gesualdo L, presentations and treatments Emma F, Rollino C, Amore A, Praga M, Feriozzi S, Segoloni G, Pani A,

Cancarini G, Durlik M, Moggia E, Mazzucco G, Giannakakis C, Honsova E, Sundelin BB, Di Palma AM, Ferrario F, Gutierrez E, Asunis AM, Barratt J, Tardanico R, Perkowska- Ptasinska A; Lipska BS, Ranchin B, Iatropoulos P, Genotype-phenotype Kidney Int. 2014 Gellermann J, Melk A, Ozaltin F, associations in WT1 Caridi G, Seeman T, Tory K, glomerulopathy. Jankauskiene A, Zurowska A, Szczepanska M, Wasilewska A,

Harambat J, Trautmann A, Peco- Antic A, Borzecka H, Moczulska A, Saeed B, Bogdanovic R, Kalyoncu M, Simkova E, Erdogan O, Vrljicak K, Teixeira A, Azocar M, Schaefer F Idiopathic Ruggenenti P, Ruggiero B, Cravedi P, Rituximab in steroid-dependent J Am Soc Nephrol. 2014 9,47 nephrotic Vivarelli M, Massella L, Marasà M, or frequently relapsing idiopathic 25(4):850-63. syndrome Chianca A, Rubis N, Ene-Iordache B, nephrotic syndrome.

Rudnicki M, Pollastro R, Capasso G, Pisani A, Pennesi M, Emma F, Remuzzi G . Levtchenko E, van den Heuvel L, Clinical utility gene card for: Hum Genet 2014 Emma F, Antignac C. Eur J Hum cystinosis Genet.

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Rinaldi S, Cagigi A, Santilli V, Zotta F, B-sides serologic markers of Transplantation 2014 di Martino A, Castrucci MR, Donatelli immunogenicity in kidney I, Poggi E, Piazza A, Campana A, transplanted patients: report Guzzo I, Villani A, Rossi P, Dello from 2012-2013 flu vaccination Strologo L, Palma P. experience. Ferraresso M, Belingheri M, Ginevri Three-yr safety and efficacy of Pediatr Transplant 2014 F, Murer L, Dello Strologo L, Cardillo everolimus and low-dose

M, Parodi A, Ghirardo G, Guzzo I, cyclosporine in de novo pediatric Innocente A, Ghio L kidney transplant patients Giannella M, Muñoz P, Alarcón JM, Pneumonia in solid organ Transpl Infect Dis 2014 Mularoni A, Grossi P, Bouza E; transplant recipients: a prospective multicenter study Chesnaye N, Bonthuis M, Schaefer F, Demographics of paediatric renal Pediatr Nephrol. 2014 Groothoff JW, Verrina E, Heaf JG, replacement therapy in Europe: a Jankauskiene A, Lukosiene V, report of the ESPN/ERA-EDTA Molchanova EA, Mota C, Peco-Antić registry. A, Ratsch IM, Bjerre A, Roussinov DL, Sukalo A, Topaloglu R, Van Hoeck K, Zagozdzon I, Jager KJ, Van Stralen KJ; Harambat J, Bonthuis M, van Stralen Adult height in patients with Am Soc Nephrol 2014 KJ, Ariceta G, Battelino N, Bjerre A, advanced CKD requiring renal Jahnukainen T, Leroy V, Reusz G, replacement therapy during

Sandes AR, Sinha MD, Groothoff JW, childhood. Combe C, Jager KJ, Verrina E, Schaefer F; Harambat J, van Stralen KJ, Verrina Likelihood of children with end- Pediatr Nephrol 2014 E, Groothoff JW, Schaefer F, Jager KJ stage kidney disease in Europe to live with a functioning kidney transplant is mainly explained by nonmedical factors. Giordano U1, Della Corte C, Cafiero Association between nocturnal G, Liccardo D, Turchetta A, blood pressure dipping and Eur J Pediatr. Hoshemand KM, Fintini D, Bedogni insulin resistance in children G, Matteucci MC, Nobili V. affected by NAFLD. 2014

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Ospedale Padova

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Mekahli D1, van Stralen KJ2, Kidney Versus Combined Kidney Am J Kidney Dis. 2016 Bonthuis M3, Jager KJ2, Balat A4, and Liver Transplantation in Nov;68(5):782-788 Benetti E5, Godefroid N6, Young People With Autosomal Edvardsson VO7, Heaf JG8, Recessive Polycystic Kidney Jankauskiene A9, Kerecuk L10, Disease: Data From the Marinova S11, Puteo F12, Seeman European Society for Pediatric T13, Zurowska A14, Pirenne J15, Nephrology/European Renal Schaefer F16, Groothoff JW17; Association-European Dialysis ESPN/ERA-EDTA Registry and Transplant (ESPN/ERA- EDTA) Registry. Melchionda S1, Palladino T1, Expanding the mutation J Hum Genet. 2016 Castellana S2, Giordano M3, Benetti spectrum in 130 probands with Sep;61(9):811-21. E4, De Bonis P1, Zelante L1, ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. Carrera P1,2, Calzavara S2, Deciphering Variability of PKD1 Sci Rep. Aug 8;6:30850. 2016 Magistroni R3,4, den Dunnen JT5, and PKD2 in an Italian Cohort of Rigo F1, Stenirri S1, Testa F4, Messa 643 Patients with Autosomal P6, Cerutti R6, Scolari F7, Izzi C7, Dominant Polycystic Kidney Edefonti A8, Negrisolo S9, Benetti Disease (ADPKD). E10, Alibrandi MT11, Manunta P11, Boletta A3, Ferrari M1,2,12 Becherucci F1, Mazzinghi B1, Lessons from genetics: is it time J Nephrol. Aug. 29 (4) 543- 2016 Provenzano A2, Murer L3, Giglio to revise the therapeutic 50 S2,4, Romagnani P5, approach to children with steroid-resistant nephrotic syndrome?

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Ruggiero B1, Vivarelli M2, Gianviti Outcome of childhood-onset Nephrol Dial Transplant. 2016 A2, Pecoraro C3, Peruzzi L4, Benetti full-house nephropathy. 2016 Jun 7 E5, Ventura G6, Pennesi M6, Murer L5, Coppo R4, Emma F2 Paglialonga F1, Consolo S2, Chronic haemodialysis in small Pediatr Nephrol. 2016 Pecoraro C3, Vidal E4, Gianoglio B5, children: a retrospective study of May;31(5):833-41 Puteo F6, Picca S7, Saravo MT3, the Italian Pediatric Dialysis Edefonti A2, Verrina E8. Registry. Iatropoulos P1, Noris M1, Mele C1, Complement gene variants . Mol Immunol. Mar; 71: 2016 Piras R1, Valoti E1, Bresin E1, Curreri determine the risk of 131-42 M1, Mondo E2, Zito A1, Gamba S1, immunoglobulin-associated Bettoni S1, Murer L3, Fremeaux- MPGN and C3 glomerulopathy Bacchi V4, Vivarelli M5, Emma F5, and predict long-term renal Daina E6, Remuzzi G7 outcome. Santucci L1, Candiano G1, Anglani Urine proteome analysis in J Proteomics. Jan 1; 2016 F2, Bruschi M1, Tosetto E2, Dent's disease shows high 130:26-32 Cremasco D2, Murer L3, D'Ambrosio selective changes potentially C4, Scaloni A4, Petretto A5, Caridi involved in chronic renal G6, Rossi R6, Bonanni A6, Ghiggeri damage. GM7 Lucchetta M1, Vidal E2, Sartori S2, Long-term plasma exchange in Dec;30(6):364-6. 2015 Campagnolo M1, Torre CD1, Marson pediatric CIDP. P3, Manara R4, Briani C1J Clin Apher. Vidal E, Schaefer F. Hypotension in Infants on Adv Perit Dial.;31:54-8. 2015 Chronic Peritoneal Dialysis: Mechanisms, Complications, and Management. Ravani P1, Rossi R2, Bonanni A2, Rituximab in Children with J Am Soc. Nephrol. Sep; 26 2015 Quinn RR3, Sica F4, Bodria M2, Steroid-Dependent Nephrotic (9) ; 2259-66 Pasini A5, Montini G5, Edefonti A6, Syndrome: A Multicenter, Open- Belingheri M6, De Giovanni D4, Label, Noninferiority, Barbano G2, Degl'Innocenti L2, Randomized Controlled Trial. Scolari F7, Murer L8, Reiser J9, Fornoni A10, Ghiggeri GM. 107

Ghirardo G1, Midrio P, Zucchetta P, Renal transplantation in children Pediatr Nephrol. Aug; 30 2015 Gamba P, Zanon G, Murer L, weighing <15 kg: does (8) ; 1337-42 Castagnetti M concomitant lower urinary tract dysfunction influence the outcome? Mele C1, Lemaire M1, Iatropoulos Characterization of a New DGKE Clin J Am Soc Nephrol. Jun 2015 P1, Piras R1, Bresin E1, Bettoni S1, Intronic Mutation in Genetically 5; 10 (6); 1011-9 Bick D1, Helbling D1, Veith R1, Unsolved Cases of Familial Valoti E1, Donadelli R1, Murer L1, Atypical Hemolytic Uremic Neunhäuserer M1, Breno M1, Syndrome. Frémeaux-Bacchi V1, Lifton R1, Remuzzi G2, Noris M Picca S1, Dionisi-Vici C, Bartuli A, De Short-term survival of . Pediatr Nephrol. 2015 Palo T, Papadia F, Montini G, hyperammonemic neonates May;30(5):839-47. Materassi M, Donati MA, Verrina E, treated with dialysis. Schiaffino MC, Pecoraro C, Iaccarino E, Vidal E, Burlina A, Emma F Di Zazzo G1, Guzzo I1, De Galasso Anterior ischemic optical Perit Dial Int. Mar- 2015 L1, Fortunato M2, Leozappa G1, neuropathy in children on Apr;35(2):135-9 Peruzzi L3, Vidal E4, Corrado C5, chronic peritoneal dialysis: Verrina E6, Picca S1, Emma F1 report of 7 cases. Giglio S1, Provenzano A2, Mazzinghi Heterogeneous genetic J Am Soc Nephrol. Jan; 26 2015 B3, Becherucci F4, Giunti L3, alterations in sporadic nephrotic (1): 230-6 Sansavini G4, Ravaglia F4, Roperto syndrome associate with RM4, Farsetti S4, Benetti E5, resistance to Rotondi M6, Murer L5, Lazzeri E7, immunosuppression. Lasagni L7, Materassi M4, Romagnani P8 Negrisolo S1, Centi S1, Benetti E2, SIX1 gene: absence of mutations J Nephrol Dec; 27 (6) 667- 2014 Ghirardo G2, Della Vella M1, Murer in children with isolated 71 L2, Artifoni L3. congenital anomalies of kidney and urinary tract.

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Caridi G1, Lugani F1, Dagnino M1, Novel INF2 mutations in an Nephrol Dial Transplant. 2014 Gigante M2, Iolascon A3, Falco M3, Italian cohort of patients with Sep;29 Suppl 4:iv80-6. Graziano C4, Benetti E5, Dugo M6, focal segmental Del Prete D7, Granata A8, Borracelli glomerulosclerosis, renal failure D9, Moggia E10, Quaglia M11, and Charcot-Marie-Tooth Rinaldi R12, Gesualdo L13, Ghiggeri neuropathy. GM1. Benetti E1, Caridi G, Centi S, Vella mRNA sequencing of a novel J Kidney Dis Transpl. Jul. 25 2014 MD, Ghiggeri GM, Artifoni L, Murer NPHS2 intronic mutation in a (4) 854-7 L. Saudi child with focal and segmental glomerulosclerosis. Dufek S1, Feldkoetter M, Vidal E, Anterior ischemic optic Pediatr Nephrol. 2014 Litwin M, Munk M, Reitner A, neuropathy in pediatric Jul;29(7):1249-57. Mueller-Sacherer T, Aufricht C, peritoneal dialysis: risk factors Arbeiter K, Boehm M and therapy. Castagnetti M1, Angelini L, Ghirardo Ureteral complications after Pediatr Transplant Mar; 18 2014 G, Zucchetta P, Gamba P, Zanon G, renal transplant in children: (2); 150-4 Murer L, Rigamonti W timing of presentation, and their open and endoscopic management. Ghirardo G1, De Franceschi M, Vidal Transplant renal artery stenosis Pediatr Nephrol. Mar; 29 2014 E, Vidoni A, Ramondo G, Benetti E, in children: risk factors and (3): 461-7 Motta R, Ferraro A, Zanon GF, outcome after endovascular Miotto D, Murer L treatment. Ghirardo G1, Benetti E, Poli F, Vidal Plasmapheresis-resistant acute . Pediatr Transplant. Feb; 2014 E, Della Vella M, Cozzi E, Murer L. humoral rejection successfully 18 (1): E1-5 treated with anti-C5 antibody.

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GASLINI GENOVA

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

M. Bruschi, M. Galetti, R. A. Sinico, G. Glomerular Autoimmune Planted Antigens," J Am 2014 Moroni, A. Bonanni, A. Radice, A. Tincani, Multicomponents of Human Lupus Soc Nephrol (2014) F. Pratesi, P. Migliorini, C. Murtas, F. Nephritis In Vivo Franceschini, B. Trezzi, F. Brunini, R. Gatti, R. Tardanico, G. Barbano, G. Piaggio, P. Messa, P. Ravani, F. Scolari, G. Candiano, A. Martini, L. Allegri, and G. M. Ghiggeri,

M. Bruschi, R. A. Sinico, G. Moroni, F. "Glomerular autoimmune J Am Soc Nephrol 25 (11), 2014 Pratesi, P. Migliorini, M. Galetti, C. multicomponents of human lupus 2483-2498 (2014) Murtas, A. Tincani, M. Madaio, A. Radice, nephritis in vivo: alpha-enolase and F. Franceschini, B. Trezzi, L. Bianchi, A. annexin AI," Giallongo, R. Gatti, R. Tardanico, A. Scaloni, C. D'Ambrosio, M. L. Carnevali, P. Messa, P. Ravani, G. Barbano, B. Bianco, A. Bonanni, F. Scolari, A. Martini, G. Candiano, L. Allegri, and G. M. Ghiggeri,

I. Panfoli, M. Bruschi, L. Santucci, D. "Myelin proteomics: the past, the Expert Rev Proteomics 11 2014 Calzia, S. Ravera, A. Petretto, and G. unexpected and the future," (3), 345-354 (2014) Candiano

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Kiryluk K, Li Y, Scolari F, Sanna-Cherchi S, “Discovery of new risk loci for IgA Nat Genet. 2014 2014 Choi M, Verbitsky M, Fasel D, Lata S, nephropathy implicates genes involved in Nov;46(11):1187-96. doi: Prakash S, Shapiro S, Fischman C, Snyder immunity against intestinal pathogens” 10.1038/ng.3118. Epub HJ, Appel G, Izzi C, Viola BF, Dallera N, Del 2014 Oct 12. Vecchio L, Barlassina C, Salvi E, Bertinetto FE, Amoroso A, Savoldi S, Rocchietti M, Amore A, Peruzzi L, Coppo R, Salvadori M, Ravani P, Magistroni R, Ghiggeri GM, Caridi G, Bodria M, Lugani F, Allegri L, Delsante M, Maiorana M, Magnano A, Frasca G, Boer E, Boscutti G, Ponticelli C, Mignani R, Marcantoni C, Di Landro D, Santoro D, Pani A, Polci R, Feriozzi S, Chicca S, Galliani M, Gigante M, Gesualdo L, Zamboli P, Battaglia GG, Garozzo M, Maixnerová D, Tesar V, Eitner F, Rauen T, Floege J, Kovacs T, Nagy J, Mucha K, Pączek L, Zaniew M, Mizerska-Wasiak M, Roszkowska-Blaim M, Pawlaczyk K, Gale D, Barratt J, Thibaudin L, Berthoux F, Canaud G, Boland A, Metzger M, Panzer U, Suzuki H, Goto S, Narita I, Caliskan Y, Xie J, Hou P, Chen N, Zhang H, Wyatt RJ, Novak J, Julian BA, Feehally J, Stengel B, Cusi D, Lifton RP, Gharavi AG

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Caridi G, Lugani F, Dagnino M, Gigante M, “Novel INF2 mutations in an Italian Nephrol Dial Transplant. 2014 Iolascon A, Falco M, Graziano C, Benetti cohort of patients with focal segmental 2014 Sep;29 Suppl 4:iv80- E, Dugo M, Del Prete D, Granata A, glomerulosclerosis, renal failure and 6. doi: Borracelli D, Moggia E, Quaglia M, Rinaldi Charcot-Marie-Tooth neuropathy” 10.1093/ndt/gfu071. R, Gesualdo L, Ghiggeri GM,

Benetti E, Caridi G, Centi S, Vella MD, mRNA sequencing of a novel NPHS2 Saudi J Kidney Dis Transpl. 2014 Ghiggeri GM, Artifoni L, Murer L, intronic mutation in a child with focal and 2014 Jul;25(4):854-7. segmental glomerulosclerosis”,

Quaglia M, Musetti C, Ghiggeri GM, Unexpectedly high prevalence of rare Clin Transplant. 2014 2014 Fogazzi GB, Settanni F, Boldorini RL, genetic disorders in kidney transplant Sep;28(9):995-1003. doi: Lazzarich E, Airoldi A, Izzo C, Giordano M, recipients with an unknown causal 10.1111/ctr.12408. Epub Stratta P. nephropathy. 2014 Jul 18.

Westland R, Bodria M, Carrea A, Lata S, Phenotypic expansion of DGKE- J Am Soc Nephrol. 2014 2014 Scolari F, Fremeaux-Bacchi V, D'Agati VD, associated diseases. Jul;25(7):1408-14. doi: Lifton RP, Gharavi AG, Ghiggeri GM, 10.1681/ASN.2013080886. Sanna-Cherchi S Epub 2014 Feb 7

Caridi G, Dagnino M, Erdeve O, Di Duca Congenital analbuminemia caused by a Biochem Med (Zagreb). 2014 M, Yildiz D, Alan S, Atasay B, Arsan S, novel aberrant splicing in the albumin 2014 Feb 15;24(1):151-8. Campagnoli M, Galliano M, Minchiotti L. gene”. doi: 10.11613/BM.2014.017. eCollection 2014

Lipska BS, Ranchin B, Iatropoulos P, “Genotype-phenotype associations in PodoNet Consortium. 2014 Gellermann J, Melk A, Ozaltin F, Caridi G, WT1 glomerulopathy”; Kidney Int. 2014 Seeman T, Tory K, Jankauskiene A, Zurowska May;85(5):1169-78. doi: A, Szczepanska M, Wasilewska A, Harambat J, 10.1038/ki.2013.519. Trautmann A, Peco-Antic A, Borzecka H, Epub 2014 Jan Moczulska A, Saeed B, Bogdanovic R, Kalyoncu M, Simkova E, Erdogan O, Vrljicak K, Teixeira A, Azocar M, Schaefer F

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Tagliamacco A, Cioni M, Comoli P, “DQ molecules are the principal Transpl Int. 2014 Mar 15. 2014 Ramondetta M, Brambilla C, Trivelli A, stimulators of de novo donor specific Magnasco A, Biticchi R, Fontana I, antibodies in non sensitized pediatric Dulbecco P, Palombo D, Klersy C, recipients receiving a first kidney Ghiggeri GM, Ginevri F, Cardillo M, transplant” Nocera A.

Chesnaye N, Bonthuis M, Schaefer F, “Demographics of paediatric renal Pediatr Nephrol. 2014 2014 Groothoff JW, Verrina E, Heaf JG, replacement therapy in Europe: a report Dec;29(12):2403-10. doi: Jankauskiene A, Lukosiene V, of the ESPN/ERA-EDTA registry.” 10.1007/s00467-014- Molchanova EA, Mota C, Peco-Antić A, 2884-6. Epub 2014 Jul 21. Ratsch IM, Bjerre A, Roussinov DL, Sukalo A, Topaloglu R, Van Hoeck K, Zagozdzon I, Jager KJ, Van Stralen KJ; ESPN/ERA–EDTA registry. van Stralen KJ, Borzych-Dużalka D, Hataya “Survival and clinical outcomes of Kidney Int. 2014 2014 H, Kennedy SE, Jager KJ, Verrina E, children starting renal replacement Jul;86(1):168-74. doi: Inward C, Rönnholm K, Vondrak K, therapy in the neonatal period”. 10.1038/ki.2013.561. Warady BA, Zurowska AM, Schaefer F, Epub 2014 Feb 5. PMID: Cochat P; ESPN/ERA-EDTA registry; IPPN 24499775 registry; ANZDATA registry; Japanese RRT registry

Harambat J, van Stralen KJ, Verrina E, Likelihood of children with end-stage Pediatr Nephrol. 2014 2014 Groothoff JW, Schaefer F, Jager KJ; kidney disease in Europe to live with a Mar;29(3):453-9. PMID: ESPN/ERA-EDTA Registry. functioning kidney transplant is mainly 24232194 explained by nonmedical factors.”

Harambat J, Bonthuis M, van Stralen KJ, Adult height in patients with advanced Clin J Am Soc Nephrol. 2014 Ariceta G, Battelino N, Bjerre A, Jahnukainen CKD requiring renal replacement therapy 2014 Jan;9(1):92-9. doi: T, Leroy V, Reusz G, Sandes AR, Sinha MD, during childhood.” 10.2215/CJN.00890113. Groothoff JW, Combe C, Jager KJ, Verrina E, Epub 2013 Oct 31. PMID: Schaefer F; ESPN/ERA-EDTA Registry. 2417897

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Paglialonga F, Consolo S, Pecoraro C, Chronic haemodialysis in small children: a Pediatr Nephrol. 2015 Dec 2015 Vidal E, Gianoglio B, Puteo F, Picca S, retrospective study of the Italian 21 Saravo MT, Edefonti A,Verrina E. Pediatric Dialysis Registry.

Harambat J, Bonthuis M, Groothoff JW, Lessons learned from the ESPN/ERA- Pediatr Nephrol. 2015 Oct 2015 Schaefer F, Tizard EJ, Verrina E, van EDTA Registry. 24 Stralen KJ, Jager KJ.

Di Zazzo G, Guzzo I, De Galasso L, Anterior ischemic optical neuropathy in Perit Dial Int. 2015 Mar- 2015 Fortunato M, Leozappa G, Peruzzi L, Vidal children on chronic peritoneal dialysis: Apr;35(2):135-9. E, Corrado C, Verrina E, Picca S, Emma F. report of 7 cases.

Ha IS, Yap HK, Munarriz RL, Zambrano Risk factors for loss of residual renal International Pediatric 2015 PH, Flynn JT, Bilge I, Szczepanska M, Lai function in children treated with chronic Peritoneal Dialysis WM, Antonio ZL, Gulati A, Hooman N, peritoneal dialysis. Network Registry. Kidney van Hoeck K, Higuita LM, Verrina E, Klaus Int. 2015 Sep;88(3):605- G, Fischbach M, Riyami MA, Sahpazova E, 13. Sander A, Warady BA, Schaefer

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Bonthuis M, Busutti M, van Stralen KJ, Mineral metabolism in European children Clin J Am Soc Nephrol. 2015 Jager KJ, Baiko S, Bakkaloğlu S, Battelino living with a renal transplant: a European 2015 May 7;10(5):767-75. N, Gaydarova M, Gianoglio B, Parvex P, society for paediatric Gomes C, Heaf JG, Podracka L, nephrology/european renal association- Kuzmanovska D, Molchanova MS, European dialysis and transplant Pankratenko TE, Papachristou F, Reusz G, association registry study. Sanahuja MJ, Shroff R, Groothoff JW, Schaefer F, Verrina E.

Bruschi M, Candiano G, Santucci L, Combinatorial Peptide Ligand Library and J Proteomics. 2015 Feb 2015 D'Ambrosio C, Scaloni A, Bonsano M, two dimensional electrophoresis: new 26;116:68-80. Ghiggeri GM, Verrina E frontiers in the study of peritoneal dialysis effluent in pediatric patients.

Sanchez-Montanez A, Morana G, Reversible cerebral vasoconstriction Cephalalgia. 2015 2015 Mancardi MM, Janis S, Severino M, mimicking posterior reversible Oct;35(11):1031-3. Verrina E, Rossi A encephalopathy syndrome in an infant with end-stage renal disease.

Picca S, Dionisi-Vici C, Bartuli A, De Palo Short-term survival of hyperammonemic Pediatr Nephrol. 2015 2015 T, Papadia F, Montini G, Materassi M, neonates treated with dialysis. May;30(5):839-47. Donati MA, Verrina E, Schiaffino MC, Pecoraro C, Iaccarino E, Vidal E, Burlina A, Emma F

Panfoli I, Ravera S, Podestà M, Cossu C, Exosomes from human mesenchymal FASEB J. 2015 Dec 11. 2015 Santucci L, Bartolucci M, Bruschi M, stem cells conduct aerobic metabolism in Calzia D, Sabatini F, Bruschettini M, term and preterm newborn infants. Ramenghi LA, Romantsik O, Marimpietri D, Pistoia V, Ghiggeri GM, Frassoni F, Candiano G.

Ravani P, Bonanni A, Rossi R, Caridi G, Anti-CD20 Antibodies for Idiopathic Clin J Am Soc Nephrol. 2015 Ghiggeri GM. Nephrotic Syndrome in Children. 2015 Nov

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Caridi G, Lugani F, Bonanni E, Rossi R, Familial Focal Segmental HYPERLINK G Ital Nefrol. 2015;32 2015 Carrea A, Ghiggeri GM. Suppl 64.

Bonanni A, Bertelli R, Rossi R, Bruschi M, A Pilot Study of IL2 in Drug-Resistant PLoS One. 2015 Sep 2015 Di Donato A, Ravani P, Ghiggeri GM. Idiopathic " Syndrome 28;10(9)

Bonanni A, Rossi R, Murtas C, Ghiggeri Low-dose ofatumumab for rituximab - BMJ Case Rep. 2015 Sep 2015 GM resistant nephrotic syndrome 16;2015

Westland R, Verbitsky M, Vukojevic K, Copy number variation analysis identifies Kidney Int. 2015 2015 Perry BJ, Fasel DA, Zwijnenburg PJ, novel CAKUT candidate genes in children Dec;88(6):1402-1410 Bökenkamp A, Gille JJ, Saraga-Babic M, with a solitary functioning kidney. Ghiggeri GM, D'Agati VD, Schreuder MF, Gharavi AG, van Wijk JA, Sanna-Cherchi S.

Bruschi M, Ravera S, Santucci L, Candiano The human urinary exosome as a Expert Rev Proteomics. 2015 G, Bartolucci M, Calzia D, Lavarello C, potential metabolic effector cargo 2015 Aug;12(4):425-32. Inglese E, Petretto A, Ghiggeri GM, Panfoli

Bertelli R, Bonanni A, Di Donato A, Cioni Regulatory T cells and minimal change Clin Exp Immunol. In press M, Ravani P, Ghiggeri GM nephropathy: in the midst of a complex network

Prunotto M, Bruschi M, Gunning P, . Stable incorporation of α-smooth Cytoskeleton (Hoboken). 2015 Gabbiani G, Weibel F, Ghiggeri GM, muscle actin into stress fibers is 2015 Jun;72(6):257-67 Petretto A, Scaloni A, Bonello T, Schevzov dependent on specific tropomyosin G, Alieva I, Bochaton-Piallat ML, isoforms. Candiano G, Dugina V, Chaponnier

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Bonanni A, Vaglio A, Bruschi M, Sinico RA, Multi-antibody composition in lupus Autoimmun Rev. 2015 2015 Cavagna L, Moroni G, Franceschini F, nephritis: isotype and antigen specificity Aug;14(8):692-702. Allegri L, Pratesi F, Migliorini P, Candiano make the difference. G, Pesce G, Ravelli A, Puppo F, Martini A, Tincani A, Ghiggeri GM

Candiano G, Santucci L, Petretto A, Widening and diversifying the proteome Anal Chem. 2015 Lavarello C, Inglese E, Bruschi M, Ghiggeri capture by combinatorial peptide 2015;87(9):4814-20. GM, Boschetti E, Righetti PG. libraries Blue dye binding

Bonanni A, Pasetti F, Ghiggeri GM, Renal denervation for severe BMJ Case Rep. 2015 Mar 2015 Gandolfo C. hypertension in a small child with Turner 10;2015. syndrome: miniaturization of the procedure and results

Ravani P, Rossi R, Bonanni A, Quinn RR, Rituximab in Children with Steroid- Am Soc Nephrol. 2015 2015 Sica F, Bodria M, Pasini A, Montini G, Dependent Nephrotic Syndrome: A Sep;26(9):2259-66. Edefonti A, Belingheri M, De Giovanni D, Multicenter, Open-Label, Noninferiority, Barbano G, Degl'Innocenti L, Scolari F, Randomized Controlled Trial. Murer L, Reiser J, Fornoni A, Ghiggeri GM

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Bruschi M, Galetti M, Sinico RA, Moroni Glomerular Autoimmune J Am Soc Nephrol. 2015 2015 G, Bonanni A, Radice A, Tincani A, Pratesi Multicomponents of Human Lupus Aug;26(8):1905-24 F, Migliorini P, Murtas C, Franceschini F, Nephritis In Vivo (2): Planted Antigens. Trezzi B, Brunini F, Gatti R, Tardanico R, Barbano G, Piaggio G, Messa P, Ravani P, Scolari F, Candiano G, Martini A, Allegri L, Ghiggeri GM.

Bruschi M, Santucci L, Ghiggeri GM, 2DE maps in the discovery of human Methods Mol Biol. 2015 Candiano G autoimmune kidney diseases: the case of 2015;1243:127- membranous glomerulonephritis.

Santucci L, Candiano G, Petretto A, From hundreds to thousands: Widening J Proteomics. 112: 53- 2015 Bruschi M, Lavarello C, Inglese E, Righetti the normal human Urinome (1). 62, 2015 PG and Ghiggeri GM.

Santucci L, Bruschi M, Ghiggeri GM, The latest advancements in proteomic Methods Mol Biol. 2015 Candiano G. two-dimensional gel electrophoresis 2015;1243:103-25 analysis applied to biological samples.

Comoli P, Quartuccio G, Cioni M, et al. Posttransplant Soluble B-Cell Activating Transplantation 2015 Factor Kinetics in Pediatric Recipients of 2015Jan;99 (1):243-9 First Kidney Allograft.

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Trautmann A, Bodria M, Ozaltin F, Spectrum of steroid-resistant and Clin J Am Soc Nephrol. 2015 Gheisari A, Melk A, Azocar M, Anarat A, congenital nephrotic syndrome in 2015 Apr 7;10(4):592-600. Caliskan S, Emma F, Gellermann J, Oh J, children: the PodoNet registry cohort Baskin E, Ksiazek J, Remuzzi G, Erdogan O, Akman S, Dusek J, Davitaia T, Özkaya O, Papachristou F, Firszt-Adamczyk A, Urasinski T, Testa S, Krmar RT, Hyla- Klekot L, Pasini A, Özcakar ZB, Sallay P, Cakar N, Galanti M, Terzic J, Aoun B, Caldas Afonso A, Szymanik-Grzelak H, Lipska BS, Schnaidt S, Schaefer F; PodoNet Consortium.

Bruschi M, Petretto A, Bertelli R, Galetti Post-translational modified proteins are ClinChimActa. 2016 M, Bonanni A, Pratesi F, Migliorini P, biomarkers of autoimmune-processes: Candiano G, Vaglio A, Ghiggeri GM NETosis and the inflammatory- autoimmunity connection. Vivarelli M, Colucci M, Bonanni A, Verzani Ofatumumab in two pediatric nephrotic PediatrNephrol. 2016 M, Serafinelli J, Emma F, Ghiggeri G. syndrome patients allergic to rituximab.

Nocera A, Tagliamacco A, Cioni M, Kidney Intragraft Homing of De Novo Am J Transplant. 2016 Innocente A, Fontana I, Barbano G, Donor-Specific HLA Antibodies Is an Carrea A, Ramondetta M, Sementa A, Essential Step of Antibody-Mediated Basso S, Quartuccio G, Klersy C, Bertocchi Damage but Not Per Se Predictive of M, Verrina E, Garibotto G, Ghiggeri GM, Graft Loss. Cardillo M, Comoli P, Ginevri F. Pedigo CE, Ducasa GM, Leclercq F, Sloan Local TNF causes NFATc1-dependent J Clin Invest. 2016 A, Mitrofanova A, Hashmi T, Molina- cholesterol-mediated podocyte injury. David J, Ge M, Lassenius MI, Forsblom C, Lehto M, Groop PH, Kretzler M, Eddy S, Martini S, Reich H, Wahl P, Ghiggeri G, Faul C, Burke GW 3rd, Kretz O, Huber TB, Mendez AJ, Merscher S, Fornoni A. 119

Gigante M, Santangelo L, Diella S, Caridi Mutational Spectrum of CYP24A1 Gene in Nephron. 2016 G, Argentiero L, D''Alessandro MM, a Cohort of Italian Patients with Martino M, Stea ED, Ardissino G, Carbone Idiopathic Infantile Hypercalcemia. V, Pepe S, Scrutinio D, Maringhini S, Ghiggeri GM, Grandaliano G, Giordano M, Gesualdo L. Bonanni A, Bertelli E, Moscatelli A, Ofatumumab-associated acute J ClinPharmacol. 2016 Lampugnani E, Bodria M, Ravani P, respiratory manifestations: clinical Ghiggeri GM. characteristics and treatment. Br Murtas C, Bruschi M, Candiano G, Anti-alpha-enolase antibodies in ClinExpNephrol. 2016 Bonanni A, Ghiggeri GM. membranous nephropathy: isotype matters. Santucci L, Bruschi M, Candiano G, Lugani Urine Proteome Biomarkers in Kidney Biomark Insights. 2016 F, Petretto A, Bonanni A, Ghiggeri GM. Diseases. I. Limits, Perspectives, and First Focus on Normal Urine. Bruschi M, Santucci L, Ravera S, Candiano Human urinary exosome proteome J Proteomics. 2016 G, Bartolucci M, Calzia D, Lavarello C, unveils its aerobic respiratory ability. Inglese E, Ramenghi LA, Petretto A, Ghiggeri GM, Panfoli I. Murtas C, Ghiggeri GM. Membranous glomerulonephritis: J Nephrol. 2016 histological and serological features to differentiate cancer-related and non- related forms.

Comoli P, Cioni M, Tagliamacco A, Acquisition of C3d-Binding Activity by De Am J Transplant. 2016 Quartuccio G, Innocente A, Fontana I, Novo Donor-Specific HLA Antibodies Trivelli A, Magnasco A, Nocco A, Klersy C, Correlates With Graft Loss in Rubert L, Ramondetta M, Zecca M, Nonsensitized Pediatric Kidney Garibotto G, Ghiggeri GM, Cardillo M, Recipients. Nocera A, Ginevri F.

120

Panfoli I, Ravera S, Podestà M, Cossu C, Exosomes from human mesenchymal FASEB J. 2016 Santucci L, Bartolucci M, Bruschi M, stem cells conduct aerobic metabolism in Calzia D, Sabatini F, Bruschettini M, term and preterm newborn infants. Ramenghi LA, Romantsik O, Marimpietri D, Pistoia V, Ghiggeri G, Frassoni F, Candiano G. Ravani P, Bonanni A, Rossi R, Caridi G, Anti-CD20 Antibodies for Idiopathic Clin J Am SocNephrol. 2016 Ghiggeri GM. Nephrotic Syndrome in Children.

Sinico RA, Mezzina N, Trezzi B, Ghiggeri Immunology of membranous ClinExpImmunol. 2016 GM, Radice A. nephropathy: from animal models to humans. Mekahli D, van Stralen KJ, Bonthuis M, Kidney Versus Combined Kidney and Am J Kidney Dis. 2016 Jager KJ, Balat A, Benetti E, Godefroid N, Liver Transplantation in Young People Edvardsson VO, Heaf JG, Jankauskiene A, With Autosomal Recessive Polycystic Kerecuk L, Marinova S, Puteo F, Seeman Kidney Disease: Data From the European T, Zurowska A, Pirenne J, Schaefer F, Society for Pediatric Groothoff JW; ESPN/ERA-EDTA Registry. Nephrology/European Renal Association- European Dialysis and Transplant (ESPN/ERA-EDTA) Registry. Paglialonga F, Consolo S, Pecoraro C, Chronic haemodialysis in small children: a PediatrNephrol. 2016 Vidal E, Gianoglio B, Puteo F, Picca S, retrospective study of the Italian Saravo MT, Edefonti A, Verrina E. Pediatric Dialysis Registry Harambat J, Bonthuis M, Groothoff JW, Lessons learned from the ESPN/ERA- PediatrNephrol. 2016 Schaefer F, Tizard EJ, Verrina E, van EDTA Registry. Stralen KJ, Jager KJ. Krischock LA, van Stralen KJ, Verrina E, Anemia in children following renal PediatrNephrol. 2016 Tizard EJ, Bonthuis M, Reusz G, Hussain transplantation-results from the FK, Jankauskiene A, Novljan G, ESPN/ERA-EDTA Registry. Spasojević-Dimitrijeva B, Podracka L, Zaller V, Jager KJ, Schaefer F; ESPN/ERA- EDTA Registry

121

Lofaro D, Jager KJ, Abu-Hanna A, Identification of subgroups by risk of Nephrol Dial Transplant. 2016 Groothoff JW, Arikoski P, Hoecker B, graft failure after paediatric renal Roussey-Kesler G, Spasojević B, Verrina E, transplantation: application of survival Schaefer F, van Stralen KJ; ESPN/ERA- tree models on the ESPN/ERA-EDTA EDTA Registry. Registry.

BARI

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Gigante M, Diella S, Santangelo L, Further phenotypic heterogeneity of Clin Genet. 2017 Trevisson E, Acosta MJ, Amatruda M, CoQ10 deficiency associated with steroid Finzi G, Caridi G, Murer L, Accetturo M, resistant nephrotic syndrome and novel Ranieri E, Ghiggeri GM, Giordano M, COQ2 and COQ6 variants . Grandaliano G, Salviati L, Gesualdo L. Palazzo V, Provenzano A, Becherucci F, The genetic and clinical spectrum of a Kidney Int. 2017 Sansavini G, Mazzinghi B, Orlandini V, large cohort of patients with distal renal Giunti L, Roperto RM, Pantaleo M, tubular acidosis. Artuso R, Andreucci E, Bargiacchi S, Traficante G, Stagi S, Murer L, Benetti E, Emma F, Giordano M, Rivieri F, Colussi G, Penco S, Manfredini E, Caruso MR, Garavelli L, Andrulli S, Vergine G, Miglietti N, Mancini E, Malaventura C, Percesepe A, Grosso E, Materassi M, Romagnani P, Giglio S.

122

Germinario C, Caprioli A, Community-wide outbreak of haemolytic Euro Surveill. 2016 Giordano M, Chironna M, Gallone uraemic syndrome associated with Shiga MS, Tafuri S, Minelli F, Maugliani toxin 2-producing Escherichia coli A, Michelacci V, Santangelo L, O26:H11 in southern Italy, summer Mongelli O, Montagna C, Scavia 2013. G; all participants of the Outbreak investigation team. Gigante M, Santangelo L, Diella S, Mutational Spectrum of CYP24A1 Gene L.Nephron. 2016 Caridi G, Argentiero L, in a Cohort of Italian Patients with D''Alessandro MM, Martino M, Idiopathic Infantile Hypercalcemia. Stea ED, Ardissino G, Carbone V, Pepe S, Scrutinio D, Maringhini S, Ghiggeri GM, Grandaliano G, Giordano M, Gesualdo Morimoto M, Myung C, Beirnes K, Increased Wnt and Notch signaling: a J Rare Dis. 2016 Choi K, Asakura Y, Bokenkamp A, clue to the renal disease in Schimke Bonneau D, Brugnara M, Charrow immuno-osseous dysplasia J, Colin E, Davis A, Deschenes G, Gentile M, Giordano M, Gormley AK, Govender R, Joseph M, Keller K, Lerut E, Levtchenko E, Massella L, Mayfield C, Najafian B, Parham D, Spranger J, Stenzel P, Yis U, Yu Z, Zonana J, Hendson G, Boerkoel CF Orphanet Melchionda S, Palladino T, Expanding the mutation spectrum in 130 J Hum Genet. 2016 Castellana S, Giordano M, Benetti probands with ARPKD: identification of E, De Bonis P, Zelante L, Bisceglia 62 novel PKHD1 mutations by sanger L. sequencing and MLPA analysis. Santangelo L, Gigante M, Netti A novel SMARCAL1 mutation associated BMC Nephrol. 2014 GS, Diella S, Puteo F, Carbone V, with a mild phenotype of Schimke Grandaliano G, Giordano M, immuno-osseous dysplasia (SIOD). Gesualdo L

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Carmine Pecoraro, Ilaria Luongo Red urine in children Italian Journal 2014; of Pediatrics Stefano Picca, Carlo Dionisi-Vici, Short-term survival of hyperammonemic Pediatric 2014 Andrea Bartuli ,Tommaso De Palo neonates treated with dialysis Nephrology ,Francesco Papadia ,Giovanni Montini, Marco Materassi, Maria Alice Donati, Enrico Verrina, Maria Cristina Schiaffino,Carmine Pecoraro, Emilia Iaccarino, Enrico Vidal, Alberto Burlina, Francesco Emma Sally Johnson, Jelena Stojanovic An audit analysis of a guideline for the Pediatric 2014; ,Gema Ariceta, Martin Bitzan, investigation and initial therapy of Nephrology Nesrin Besbas, Michelle Frieling, diarrhea negative (atypical) hemolytic Diana Karpman, Daniel uremic syndrome Landau,Craig Langman , Christoph Licht, Carmine Pecoraro ,Magdalena Riedl, Ekaterini Siomou, Nicole van de Kar,Johan Vande Walle, Chantal Loirat, C Mark Taylor Chesnaye N, Bonthuis M, Schaefer Demographics of paediatric renal Pediatr 2014 F, Groothoff JW, Verrina E, Heaf replacement therapy in Europe: a report Nephrol. JG, Jankauskiene A, Lukosiene V, of the ESPN/ERA-EDTA registry Molchanova EA, Mota C, Peco- Antić A, Ratsch IM, Bjerre A, Roussinov DL, Sukalo A, Topaloglu R, Van Hoeck K, Zagozdzon I, Jager KJ, Van Stralen KJ; 124

Harambat J, Bonthuis M, van Adult height in patients with advanced .Clin J Am Soc 2014 Stralen KJ, Ariceta G, Battelino N, CKD requiring renal replacement therapy Nephrol. Bjerre A, Jahnukainen T, Leroy V, during childhood. Reusz G, Sandes AR, Sinha MD, Groothoff JW, Combe C, Jager KJ, Verrina E, Schaefer F; ESPN/ERA- EDTA Registry Fabio Paglialonga • Silvia Consolo Chronic haemodialysis in small children: Pediatric 2015 • Carmine Pecoraro [...] • Enrico a retrospective study of the italian Nephrology Verrina pediatric dialysis registry Carmine Pecoraro Alfonso Treatment of congenital thrombotic Pediatric 2015 Vincenzo Salvatore Ferretti Erica thrombocytopenic purpura with Nephrology Rurali • [...] Giuseppe Remuzzi eculizumab

Carmine Pecoraro Alfonso Ferretti Should eculizumab be offered to all Pediatric 2015 Erica Rurali [...] Giuseppe Remuzzi patients with adamts13 deficiency and Nephrology signs of complement activation? Enrico Vidal Roberto Chimenz A propensity-matched comparison of Pediatric 2015 Alberto Edefonti Bruno Gianoglio hard outcomes in children on chronic Nephrology Giovanna Leozappa Carmine dialysis: the italian registry experience Pecoraro [...] Enrico Verrina Article Carmine Pecoraro Prevention of chronic kidney disease Italian Journal 2015 (ckd) in children of Pediatrics Chantal Loirat ,Fadi Fakhouri An international consensus approach to Pediatric 2015 ,Gema Ariceta ,Carmine Pecoraro the management of atypical hemolytic Nephrology [...] , Véronique Frémeaux-Bacchi uremic syndrome in children

G. Malgieri · V. Bruno · A. Esposito Nutcracker syndrome: an Pediatric 2016 C. Pecoraro · underestimated cause of hematuria in Nephrology children

V. Bruno ,D. Molino ,F. Nuzzi , [...] Mycophenolate Mofetil (MMF) as Pediatric 2016 C. Pecoraro induction and maintenance therapy in Nephrology childhood Lupus Nephritis (LN)

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E. Vidal ,I. Alberici ,M. Martino, Acute pancreatitis in children on chronic Pediatric 2016 C.Pecoraro [...], E. Verrina dialysis: incidence and clinical Nephrology characteristic in a nationwide registry. L. Peruzzi , B. Gianoglio , C. EUROPEAN REGISTRY OF HENOCH Nephrology 2016 Pecoraro, [...] , R. Coppo SCHOENLEINPURPURA NEPHRITIS IN Dialysis CHILDREN TO DETECT RISK... Barbara Ruggiero ,Marina Vivarelli Outcome of childhood-onset full-house Nephrology 2016 , Alessandra Gianviti ,C.Pecoraro nephropathy Dialysis [...] ,Francesco Emma Transplantation Esposito F, Di Serafino M, Chronic peritoneal dialysis in children: P. J Ultrasound. 2016 Ambrosio C, Panico MR, Malacario the role of ultrasound in the diagnosis of F, Mercogliano C, Pecoraro C, peritoneal catheter obstruction. Oresta Dialysis.Vidal E, van Stralen KJ, Infants Requiring Maintenance Dialysis: Am J Kidney 2016 Chesnaye NC, Bonthuis M, Outcomes of Hemodialysis and Dis. Holmberg C, Zurowska A, Trivelli Peritoneal A, Da Silva JE, Herthelius M, Adams B, Bjerre A, Jankauskiene A, Miteva P, Emirova K, Bayazit AK, Mache CJ, Sánchez-Moreno A, Harambat J, Groothoff JW, Jager KJ, Schaefer F, Verrina E; Mekahli D, van Stralen KJ, Kidney Versus Combined Kidney and Am J Kidney 2016 Bonthuis M, Jager KJ, Balat A, Liver Transplantation in Young People Dis. Benetti E, Godefroid N, With Autosomal Recessive Polycystic Edvardsson VO, Heaf JG, Kidney Disease: Data From the European Jankauskiene A, Kerecuk L, Society for Pediatric Marinova S, Puteo F, Seeman T, Nephrology/European Renal Association- Zurowska A, Pirenne J, Schaefer F, European Dialysis and Groothoff JW; Transplant(ESPN/ERA-EDTA) Registry. Ruggiero B, Vivarelli M, Gianviti A, Outcome of childhood-onset full-house Nephrol Dial 2016 Pecoraro C, Peruzzi L, Benetti E, nephropathy. Transplant. Ventura G, Pennesi M, Murer L, Coppo R, Emma F.

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Hogan J, Couchoud C, Bonthuis M, Gender Disparities in Access to Pediatric Am J 2016 Groothoff JW, Jager KJ, Schaefer F, Renal Transplantation in Europe: Data Transplant. Van Stralen KJ; From the ESPN/ERA-EDTA Registry. Paglialonga F, Consolo S, Pecoraro Chronic haemodialysis in small children: Pediatr 2016 C, Vidal E, Gianoglio B, Puteo F, a retrospective study of the Italian Nephrol. Picca S, Saravo MT, Edefonti A, Pediatric Dialysis Registry Verrina E. Tjaden LA, Noordzij M, van Stralen Racial Disparities in Access to and Am J Kidney 2016 KJ, Kuehni CE, Raes A, Cornelissen Outcomes of Kidney Transplantation in Dis. EA, O'Brien C, Papachristou F, Children, Adolescents, and Young Adults: Schaefer F, Groothoff JW, Jager KJ; Results From the ESPN/ERA-EDTA ESPN/ERA-EDTA Registry Study (European Society of Pediatric Group Nephrology/European Renal Association- European Dialysis and Transplant Association) Registry. Krischock LA, van Stralen KJ, Anemia in children following renal Pediatr 2016 Verrina E, Tizard EJ, Bonthuis M, transplantation-results from the Nephrol. Reusz G, Hussain FK, Jankauskiene ESPN/ERA-EDTA Registry. A, Novljan G, Spasojević- Dimitrijeva B, Podracka L, Zaller V, Jager KJ, Schaefer F; ESPN/ERA- EDTA Registry.. Lofaro D, Jager KJ, Abu-Hanna A, Identification of subgroups by risk of Nephrol Dial 2016 Groothoff JW, Arikoski P, Hoecker graft failure after paediatric renal Transplant. B, Roussey-Kesler G, Spasojević B, transplantation: application of survival Verrina E, Schaefer F, van Stralen tree models on the ESPN/ERA-EDTA KJ; ESPN/ERA-EDTA Registry.. Registry. Loirat C, Fakhouri F, Ariceta G, Besbas An international consensus approach to Pediatr 2016 N, Bitzan M, Bjerre A, Coppo R, Emma the management of atypical hemolytic Nephrol. F, Johnson S, Karpman D, Landau D, uremic syndrome in children. Langman CB, Lapeyraque AL, Licht C, Nester C, Pecoraro C, Riedl M, van de Kar NC, Van de Walle J, Vivarelli M, Frémeaux-Bacchi V; HUS International..

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Dennert N, Engels H, Cremer K, De novo microdeletions and point Med Genet A. 2017 Becker J, Wohlleber E, Albrecht B, mutations affecting SOX2 in three Ehret JK, Lüdecke HJ, Suri M, individuals with intellectual disability but Carignani G, Renieri A, Kukuk GM, without major eye malformations. Am J Wieland T, Andrieux J, Strom TM, Wieczorek D, Dieux-Coëslier A, Zink AM. Bidart M, El Atifi M, Miladi S, Microduplication of the ARID1A gene Genet Med. 2016 Rendu J, Satre V, Ray PF, Bosson causes intellectual disability with C, Devillard F, Lehalle D, Malan V, recognizable syndromic features. Amiel J, Mencarelli MA, Baldassarri M, Renieri A, Clayton- Smith J, Vieville G, Thevenon J, Amblard F, Berger F, Jouk PS, Coutton C. Fallerini C, Baldassarri M, Alport syndrome: impact of digenic Clin Genet. 2016 Trevisson E, Morbidoni V, La inheritance in patients management. Manna A, Lazzarin R, Pasini A, Barbano G, Pinciaroli AR, Garosi G, Frullanti E, Pinto AM, Mencarelli MA, Mari F, Renieri A, Ariani F.

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Bianciardi L, Imperatore V, Exome sequencing coupled with mRNA . Mol Genet 2016 Fernandez-Vizarra E, Lopomo A, analysis identifies NDUFAF6 as a Leigh Metab. Falabella M, Furini S, Galluzzi P, gene. Grosso S, Zeviani M, Renieri A, Mari F, Frullanti E Baldo C, Casareto L, Renieri A, The alliance between genetic biobanks Orphanet J 2016 Merla G, Garavaglia B, Goldwurm and patient organisations: the Rare Dis. S, Pegoraro E, Moggio M, Mora M, experience of the telethon network of Politano L, Sangiorgi L, Mazzotti R, genetic biobanks. Viotti V, Meloni I, Pellico MT, Barzaghi C, Wang CM, Monaco L, Filocamo M. Pinto AM, Ariani F, Bianciardi L, Exploiting the potential of next- Expert Rev Mol 2016 Daga S, Renieri A. generation sequencing in genomic Diagn. medicine. Breckpot J, Vercruyssen M, Weyts Copy number variation analysis in adults . Eur J Med 2016 E, Vandevoort S, D'Haenens G, with catatonia confirms Genet. Van Buggenhout G, Leempoels L, haploinsufficiency of SHANK3 as a Brischoux-Boucher E, Van predisposing factor. Maldergem L, Renieri A, Mencarelli MA, D'Angelo C, Mericq V, Hoffer MJ, Tauber M, Molinas C, Castiglioni C, Brison N, Vermeesch JR, Danckaerts M, Sienaert P, Devriendt K, Vogels A Pretegiani E, Mari F, Renieri A, Nicolaides-Baraitser syndrome: defining J Neurol. 2016 Penco S, Dotti MT. a phenotype.

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Gross O, Kashtan CE, Rheault MN, Advances and unmet needs in genetic, Nephrol Dial 2016 Flinter F, Savige J, Miner JH, Torra basic and clinical science in Alport Transplant. R, Ars E, Deltas C, Savva I, Perin L, syndrome: report from the 2015 Renieri A, Ariani F, Mari F, Baigent International Workshop on Alport C, Judge P, Knebelman B, Heidet L, Syndrome. Lagas S, Blatt D, Ding J, Zhang Y, Gale DP, Prunotto M, Xue Y, Schachter AD, Morton LC, Blem J, Huang M, Liu S, Vallee S, Renault D, Schifter J, Skelding J, Gear S, Friede T, Turner AN, Lennon R. Boggio EM, Pancrazi L, Gennaro Visual impairment in FOXG1-mutated Neuroscience. 2016 M, Lo Rizzo C, Mari F, Meloni I, individuals and mice. Ariani F, Panighini A, Novelli E, Biagioni M, Strettoi E, Hayek J, Rufa A, Pizzorusso T, Renieri A, Costa M. Imperatore V, Mencarelli MA, Potentially Treatable Disorder Diagnosed Int J Mol Sci. 2016 Fallerini C, Bianciardi L, Ariani F, Post Mortem by Exome Analysis in a Boy Furini S, Renieri A, Mari F, Frullanti with Respiratory Distress. E.

Pinto AM, Bianciardi L, Mencarelli Exome sequencing analysis in a pair of Brain Dev. 2016 MA, Imperatore V, Di Marco C, monozygotic twins re-evaluates the Furini S, Suppiej A, Salviati L, genetics behind their intellectual Tenconi R, Ariani F, Mari F, Renieri disability and reveals a CHD2 mutation. A.

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Amato T, Abate F, Piccaluga P, Clonality Analysis of Immunoglobulin Am J Clin 2016 Iacono M, Fallerini C, Renieri A, De Gene Rearrangement by Next- Pathol. Falco G, Ambrosio MR, Generation Sequencing in Endemic Mourmouras V, Ogwang M, Calbi Burkitt Lymphoma Suggests Antigen V, Rabadan R, Hummel M, Pileri S, Drive Activation of BCR as Opposed to Leoncini L, Bellan C. Sporadic Burkitt Lymphoma. Frullanti E, Amabile S, Lolli MG, Altered expression of neuropeptides in Eur J Hum 2016 Bartolini A, Livide G, Landucci E, FoxG1-null heterozygous mutant mice. Genet. Mari F, Vaccarino FM, Ariani F, Massimino L, Renieri A, Meloni I. Garibaldi M, Pennisi EM, Bruttini Dropped-head in recessive Neuromuscul 2015 M, Bizzarri V, Bucci E, Morino S, oculopharyngeal muscular dystrophy. Disord. Talerico C, Stoppacciaro A, Renieri A, Antonini G. Bianciardi L, Fichera M, Failla P, Di MECP2 missense mutations outside the J Hum Genet. 2015 Marco C, Grozeva D, Mencarelli canonical MBD and TRD domains in MA, Spiga O, Mari F, Meloni I, males with intellectual disability. Raymond L, Renieri A, Romano C, Ariani F.

Fallerini C, Carignani G, Capoccitti Sporadic hereditary motor and sensory J Neurol Sci. 2015 G, Federico A, Rufa A, Pinto AM, neuropathies: Advances in the diagnosis Rizzo CL, Rossi A, Mari F, using next generation sequencing Mencarelli MA, Giannini F, Renieri technology. A. Patriarchi T, Amabile S, Frullanti E, Imbalance of excitatory/inhibitory Eur J Hum 2015 Landucci E, Lo Rizzo C, Ariani F, synaptic protein expression in iPSC- Genet. Costa M, Olimpico F, W Hell J, M derived neurons from FOXG1+/- patients Vaccarino F, Renieri A, Meloni I. and in foxg1+/- mice.

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Mitchell E, Douglas A, Kjaegaard S, Recurrent duplications of 17q12 Am J Med 2015 Callewaert B, Vanlander A, associated with variable phenotypes. Genet A. Janssens S, Lawson Yuen A, Skinner C, Failla P, Alberti A, Avola E, Fichera M, Kibaek M, Digilio MC, Hannibal MC, den Hollander NS, Bizzarri V, Renieri A, Mencarelli MA, Fitzgerald T, Piazzolla S, van Oudenhove E, Romano C, Schwartz C, Eichler EE, Slavotinek A, Escobar L, Rajan D, Crolla J, Carter N, Hodge JC, Mefford HC. Grozeva D, Carss K, Spasic- Targeted Next-Generation Sequencing Hum Mutat. 2015 Boskovic O, Tejada MI, Gecz J, Analysis of 1,000 Individuals with Shaw M, Corbett M, Haan E, Intellectual Disability. Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium, Hurles M, Raymond FL. Dhanraj S, Gunja SM, Deveau AP, Bone marrow failure and developmental J Med Genet. 2015 Nissbeck M, Boonyawat B, delay caused by mutations in poly(A)- Coombs AJ, Renieri A, Mucciolo specific ribonuclease (PARN). M, Marozza A, Buoni S, Turner L, Li H, Jarrar A, Sabanayagam M, Kirby M, Shago M, Pinto D, Berman JN, Scherer SW, Virtanen A, Dror Y.

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Peterlongo P, Catucci I, Colombo FANCM c.5791C>T nonsense mutation Hum Mol 2015 M, Caleca L, Mucaki E, Bogliolo M, (rs144567652) induces exon skipping, Genet. Marin M, Damiola F, Bernard L, affects DNA repair activity and is a Pensotti V, Volorio S, Dall'Olio V, familial breast cancer risk factor. Meindl A, Bartram C, Sutter C, Surowy H, Sornin V, Dondon MG, Eon-Marchais S, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM; GENESIS, Mitchell G, James PA, Thompson E; kConFab; SWE- BRCA, Marchetti M, Verzeroli C, Tartari C, Capone GL, Putignano AL, Genuardi M, Medici V, Marchi I, Federico M, Tognazzo S, Matricardi L, Agata S, Dolcetti R, Della Puppa L, Cini G, Gismondi V, Viassolo V, Perfumo C, Mencarelli MA, Baldassarri M, Peissel B, Roversi G, Silvestri V, Rizzolo P, Spina F, Vivanet C, Tibiletti MG, Caligo MA, Gambino G, Tommasi S, Pilato B, Tondini C, Corna C, Bonanni B, Barile M, Osorio A, Benitez J, Balestrino L, Ottini L, Manoukian S, Pierotti MA, Renieri A, Varesco L, Couch FJ, Wang X, Devilee P, Hilbers FS, van Asperen CJ, Viel A, Montagna M, Cortesi L, Diez O, Balmaña J, Hauke J, Schmutzler RK, Papi L, Pujana MA, Lázaro C, Falanga A, Offit K, Vijai J, Campbell I, Burwinkel B, Kvist A, Ehrencrona H, Mazoyer S, Pizzamiglio S, Verderio P, Surralles J, Rogan PK, Radice P. 133

Pecorelli A, Belmonte G, Meloni I, Alteration of serum lipid profqile, SRB1 Free Radic Biol 2015 Cervellati F, Gardi C, Sticozzi C, De loss and impaired Nrf2 activation in Med. Felice C, Signorini C, Cortelazzo A, CDKL5 disorder. Leoncini S, Ciccoli L, Renieri A, Jay Forman H, Hayek J, Valacchi G. Mari F, Novelli A, Romano C, Letter to the Editor Regarding Disciglio et Am J Med 2015 Renieri A.Response to Phelan K. et al: Interstitial 22q13 deletions not Genet A. al.: involving SHANK3 gene: A new contiguous gene syndrome. Migliavacca E, Golzio C, Männik K, A Potential Contributory Role for Ciliary Am J Hum 2015 Blumenthal I, Oh EC, Harewood L, Dysfunction in the 16p11.2 600 kb BP4- Genet. Kosmicki JA, Loviglio MN, BP5 Pathology Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA; 16p11.2 European Consortium, van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A; 16p11 2 European Consortium. Pintaudi M, Calevo MG, Vignoli A, Antiepileptic drugs in Rett Syndrome. Eur J Paediatr 2015 Baglietto MG, Hayek Y, Traverso Neurol. M, Giacomini T, Giordano L, Renieri A, Russo S, Canevini M, Veneselli E. Nissenkorn A, Levy-Drummer RS, Epilepsy in Rett syndrome-Lessons from Epilepsia. 2015 Bondi O, Renieri A, Villard L, Mari the Rett networked database. F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M, Craiu D, Djukic A, Pini G, Bisgaard AM, Melegh B, Vignoli A, Russo S, Anghelescu C, Veneselli E, Hayek J, Ben-Zeev B.

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Amitrano S, Marozza A, Somma S, Next generation sequencing in sporadic Eur J Hum 2015 Imperatore V, Hadjistilianou T, De retinoblastoma patients reveals somatic Genet. Francesco S, Toti P, Galimberti D, mosaicism. Meloni I, Cetta F, Piu P, Di Marco C, Dosa L, Lo Rizzo C, Carignani G, Mencarelli MA, Mari F, Renieri A, Ariani F. Mencarelli MA, Heidet L, Storey H, Evidence of digenic inheritance in Alport J Med Genet. 2015 van Geel M, Knebelmann B, syndrome. Fallerini C, Miglietti N, Antonucci MF, Cetta F, Sayer JA, van den Wijngaard A, Yau S, Mari F, Bruttini M, Ariani F, Dahan K, Smeets B, Antignac C, Flinter F, Renieri A. Mora M, Angelini C, Bignami F, The EuroBioBank Network: 10 years of European 2014 Bodin AM, Crimi M, Di Donato JH, hands-on experience of collaborative, Journal of Felice A, Jaeger C, Karcagi V, transnational biobanking for rare Human LeCam Y, S Lynn, M Meznaric, M diseases. Genetics Moggio, L Monaco, L Politano, M Posada de la Paz, S Saker, P Schneiderat, M Ensini, B Garavaglia, D Gurwitz, D Johnson, F Muntoni, J Puymirat, M Reza, T Voit, C Baldo, F Dagna Bricarelli, S Goldwurm, G Merla, E Pegoraro, A Renieri, K Zatloukal, M Filocamo, H Lochmüller, Mazzotta C, Traversi C, Raiskup F, First identification of a triple corneal Case Rep 2014 Rizzo CL, Renieri A. dystrophy association: keratoconus, Ophthalmol. epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy.

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Mari F, Marozza A, Mencarelli MA, Coffin-Siris and Nicolaides-Baraitser Brain Dev. 2014 Lo Rizzo C, Fallerini C, Dosa L, Di syndromes are a common well Marco C, Carignani G, Baldassarri recognizable cause of intellectual M, Cianci P, Vivarelli R, Vascotto disability. M, Grosso S, Rubegni P, Caffarelli C, Pretegiani E, Fimiani M, Garavelli L, Cristofoli F, Vermeesch JR, Nuti R, Dotti MT, Balestri P, Hayek J, Selicorni A, Renieri A. Signorini C, Leoncini S, De Felice C, Redox imbalance and morphological Oxid Med Cell 2014 Pecorelli A, Meloni I, Ariani F, Mari changes in skin fibroblasts in typical Rett Longev. F, Amabile S, Paccagnini E, Gentile syndrome. M, Belmonte G, Zollo G, Valacchi G, Durand T, Galano JM, Ciccoli L, Renieri A, Hayek J. Renieri A, Mencarelli MA, Cetta F, Oligogenic germline mutations identified Lung Cancer. 2014 Baldassarri M, Mari F, Furini S, Piu in early non-smokers lung P, Ariani F, Dragani TA, Frullanti E. adenocarcinoma patients. Reinthaler EM, Lal D, Lebon S, Duplications confer risk for typical and Hum Mol 2014 Hildebrand MS, Dahl HH, Regan BM, atypical Rolandic epilepsy. Genet. Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. 16p11.2 600 kb Livide G, Patriarchi T, Amenduni GluD1 is a common altered player in Eur J Hum 2014 M, Amabile S, Yasui D, Calcagno E, neuronal differentiation from both Genet.

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Lo Rizzo C, De Falco G, Ulivieri C, MECP2-mutated and CDKL5-mutated iPS Ariani F, Mari F, Mencarelli MA, cells. Hell JW, Renieri A, Meloni I. Zhang Y, Matt L, Patriarchi T, Capping of the N-terminus of PSD-95 by EMBO J. 2014 Malik ZA, Chowdhury D, Park DK, calmodulin triggers its postsynaptic Renieri A, Ames JB, Hell JW. release. Disciglio V, Lo Rizzo C, Mencarelli Interstitial 22q13 deletions not involving Am J Med 2014 MA, Mucciolo M, Marozza A, Di SHANK3 gene: a new contiguous gene Genet A. Marco C, Massarelli A, Canocchi V, syndrome. Baldassarri M, Ndoni E, Frullanti E, Amabile S, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A. Yamamoto T, Mencarelli MA, Di Overlapping microdeletions involving Eur J Med 2014 Marco C, Mucciolo M, Vascotto 15q22.2 narrow the critical region for Genet. M, Balestri P, Gérard M, Mathieu- intellectual disability to NARG2 and Dramard M, Andrieux J, Breuning RORA. M, Hoffer MJ, Ruivenkamp CA, Shimada S, Sangu N, Shimojima K, Umezu R, Kawame H, Matsuo M, Saito K, Renieri A, Mari F.

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Ospedale Regina Margherita - Torino

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, Anno I. F. Note volume, pagine

IgA nephropathy Coppo R, Lofaro DD, Camilla RR, Risk factors for progression in children Pediatr 2017 2,34 Bellur S, Cattran D, Cook HT, and young adults with IgA nephropathy: Nephrol. Roberts IS, Peruzzi L, Amore A, an analysis of 261 cases from the VALIGA 32(1):139-150. Emma F, Fuiano L, Berg U, European cohort Topaloglu R, Bilginer Y, Gesualdo L, Polci R, Mizerska-Wasiak M, Caliskan Y, Lundberg S, Cancarini G, Geddes C, Wetzels J, Wiecek A, Durlik M, Cusinato S, Rollino C, Maggio M, Praga MK, Smerud H, Tesar V, Maixnerova D, Barratt J, Papalia T, Bonofiglio R ,Mazzucco G, Giannakakis C, Soderberg M, Orhan D, Di Palma AM, Maldyk J, Ozluk Y, Sudelin B, Tardanico R, Kipgen D, Steenbergen E, Karkoszka H, Perkowska-Ptasinska A, Ferrario F, Gutierrez E, Honsova E Pelle A, Cuccurullo A, Mancini C, Updated genetic testing of Italian J Nephrol 2016 Sebastiano R, Stallone G, patients referred with a clinical diagnosis Negrisolo S, Benetti E, Peruzzi L, of primary hyperoxaluria. Petrarulo M, De Marchi M, Marangella M, Amoroso A, Giachino D, Mandrile G

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Feehally J, Coppo R, Troyanov S, Tonsillectomy in a European Cohort of Nephron. 2016 Bellur SS, Cattran D, Cook T, 1,147 Patients with IgA Nephropathy. Roberts IS, Verhave JC, Camilla R, Vergano L, Egido J, Wiecek A, Karkoszka H, Tesar V, Maixnerova D, Ots-Rosenberg M, Quaglia M, Rollino C, Magistroni R, Cusinato S, Cravero R, Peruzzi L, Lundberg S, Gesualdo L, Cancarini G, Feriozzi S, Ferrario F; VALIGA

Abramowicz D, Hazzan M, Does pre-emptive transplantation versus Nephrol Dial 2015 Maggiore U, Peruzzi L, Cochat P, post start of dialysis transplantation with Transplant Oberbauer R, Haller MC, Van a kidney from a living donor improve Biesen W; outcomes after transplantation? A systematic literature review and position statement by the Descartes Working Group and ERBP Coppo R, Bonaudo R, Peruzzi L, Liver transplantation for aHUS: still Pediatr Nephrol 2015 Amore A, Brunati A, Romagnoli R, needed in the eculizumab era? Salizzoni M, Galbusera M, Gotti E, Daina E, Noris M, Remuzzi G. Spada M, Calvo PL, Brunati A, Liver transplantation in severe J Pediatr. 2015 Peruzzi L, Dell'Olio D, Romagnoli methylmalonic acidemia: The sooner, R, Porta F. the better. 7. Spada M, Calvo PL, Early Liver Transplantation for Neonatal- Pediatrics. 2015 Brunati A, Peruzzi L, Dell'Olio D, Onset Methylmalonic Acidemia. Romagnoli R, Porta F Di Zazzo G, Guzzo I, De Galasso L, Optical Neuropathy in Children on Perit Dial Int. 2015 Fortunato M, Leozappa G, Peruzzi Chronic Peritoneal Dialysis: Report of 7 L, Vidal E, Corrado C, Verrina E, Cases. Picca S, Emma F.

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Coppo R, Peruzzi L, Amore A, Dramatic effects of eculizumab in a child Pediatr 2015 Martino S, Vergano L, Lastauka I, with diffuse proliferative lupus nephritis Nephrol. Schieppati A, Noris M, Tovo PA, resistant to conventional therapy. Remuzzi G Paroxysmal Timeus F, Crescenzio N, Longoni Paroxysmal nocturnal hemoglobinuria PLoS One. 2014 3,53 nocturnal D, Doria A, Foglia L, Pagliano S, clones in children with acquired aplastic 9(7):e101948. hemoglobinuria Vallero S, Decimi V, Svahn J, anemia: A multicentre study Palumbo G, Ruggiero A, Martire B, Pillon M, Marra N, Dufour C, Ramenghi U, Saracco P Peruzzi L, Amore A, Coppo R. Challenges in pediatric renal World J 2014 transplantation. Transplant. Kiryluk K, Li Y, Scolari F, Sanna- Discovery of new risk loci for IgA Nat Genet. 2014 Cherchi S, Choi M, Verbitsky M, nephropathy implicates genes involved Fasel D, Lata S, Prakash S, Shapiro in immunity against intestinal S, Fischman C, Snyder HJ, Appel G, pathogens. Izzi C, Viola BF, Dallera N, Del Vecchio L, Barlassina C, Salvi E, Bertinetto FE, Amoroso A, Savoldi S, Rocchietti M, Amore A, Peruzzi L, Coppo R, Salvadori M, Ravani P, Magistroni R, Ghiggeri GM, Caridi G, Bodria M, Lugani F, Allegri L, Delsante M, Maiorana M, Magnano A, Frasca G, Boer E, Boscutti G, Ponticelli C, Mignani R, Marcantoni C, Di Landro D, Santoro D, Pani A, Polci R, Feriozzi S, Chicca S, Galliani M, Gigante M, Gesualdo L, Zamboli P, Battaglia GG, Garozzo M, Maixnerová D, Tesar V, Eitner F, Rauen T, Floege J, Kovacs T, Nagy J, Mucha K, Pączek L, Zaniew M, Mizerska- Wasiak M, Roszkowska-Blaim M, 140

Pawlaczyk K, Gale D, Barratt J, Thibaudin L, Berthoux F, Canaud G, Boland A, Metzger M, Panzer U, Suzuki H, Goto S, Narita I, Caliskan Y, Xie J, Hou P, Chen N, Zhang H, Wyatt RJ, Novak J, Julian BA, Feehally J, Stengel B, Cusi D, Lifton RP, Gharavi AG. Peruzzi L, Bonaudo R, Amore A, Neonatal sepsis with multi-organ failure Nephrol Urol. 2014 Chiale F, Donadio ME, Vergano L, and treated with a new dialysis device Coppo R. specifically designed for newborns. Case Rep Calitri C, Garazzino S, "Collateral" effect of J Vector Borne 2014 Camilla R, Peruzzi L, artemether in an atypical Dis. Amore A, Tovo PA. kidney involvement by Plasmodium falciparum malaria: a case report Vergano L, Loiacono E, Albera R, Can tonsillectomy modify the innate and Nephrol. 2014 Coppo R, Camilla R, Peruzzi L, adaptive immunity pathways involved in Amore A, Donadio ME, Chiale F, IgA nephropathy? J Boido A, Mariano F, Mazzucco G, Ravera S, Cancarini G, Magistroni R, Beltrame G, Rollino C, Stratta P, Quaglia M, Bergia R, Cravero R, Cusinato S, Benozzi L, Savoldi S, Licata C. Donadio ME, Loiacono E, Peruzzi Toll-like receptors, immunoproteasome Pediatr 2014 L, Amore A, Camilla R, Chiale F, and regulatory T cells in children with Nephrol. Vergano L, Boido A, Conrieri M, Henoch-Schönlein purpura and primary Bianciotto M, Bosetti FM, Coppo IgA nephropathy R. Ruggiero B, Vivarelli M, Gianviti A, Outcome of childhood-onset full-house Nephrol Dial 2014 Pecoraro C, Peruzzi L, Benetti E, nephropathy. Transplant Ventura G, Pennesi M, Murer L, Coppo R, Emma F 141

Partecipazione Nazionale a ERN

Francesco Emma Divisione di Nefrologia e Dialisi Ospedale Pediatrico Bambino Gesù

La rete ERN per le malattie renali si nomina ERKNeT ed è coordinata dal È stato dunque creato un punteggio che ha permesso ai vari centri di Prof. F. Schaefer presso l’università di Heidelberg. qualificarsi come centro di riferimento in almeno una delle nove categorie In base ai dati di prevalenza disponibili nei registri adulti e pediatrici delle identificate. In Italia, i centri pediatrici che afferiscono al momento alla rete rispettive società europee di nefrologia, le malattie sono state classificate in ERKNeT sono: Torino (Ospedale Regina Margherita), Milano (Fondazione nove sottocategorie che comprendono: IRCCS Ca' Granda - Ospedale Maggiore Policlinico), Padova (Clinica 1. Glomerulopatie Pediatrica – Azienda Ospedaliera di Padova), Firenze (Ospedale Meyer), 2. Malattie congenite dei reni e delle vie urinarie e ciliopatie Roma (Ospedale Pediatrico Bambino Gesù) e Napoli (Ospedale Santo Bono). 3. Displasie renali autosomiche dominanti e patologie correlate Alle attività delle varie aree tematiche, contribuiscono 6 task force 4. Tubulopathie trasversali per: 5. Malattie metaboliche e disordini caratterizzati da nefrolitiasi 1. Diagnostica molecolare 6. Microangiopatie trombotiche 2. Registri e valutazioni di esito 7. Insufficienza renale cronica di stadio 3-5 in età pediatrica e dialisi 3. Anatomia patologica ed imaging pediatrica 4. Transizione bambino-adulto e qualità di vita 8. Trapianto renale pediatrico 5. Formazione e training 6. Linee guida Per aderire alla rete, i centri hanno dovuto certificare di seguire un minimo Il mantenimento di ogni centro all’interno della rete è condizionato alla di pazienti in una o più categoria o di avere una produzione scientifica e/o partecipazione attiva alle suddette attività ed al raggiungimento di criteri di un ruolo di leader in registri o studi clinici inerenti alla specifica categoria. benchmarking elaborati dal consorzio.

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Malattie rare in età pediatrica: Ricerca, farmaci orfani e reti europee di riferimento

Malattie immunologiche pediatriche A cura del Gruppo di Immunodeficienze - IPINET-AIEOP (Coordinatore: Claudio Pignata)

Alessandro Aiuti Marco Gattorno Claudio Pignata Alessandro Plebani

143

Pubblicazioni, trial clinici e ERN

Claudio Pignata, Alessandro Aiuti, Alessandro Plebani

I disordini congeniti del sistema immune rappresentano una frontiera della MEDLINE. Per ogni produzione scientifica è stato calcolato l’indice nuova medicina traslazionale e della ricerca in ambito biomedico. La scientometrico, quale l’Impact Factor, che ha permesso di acquisire maggior parte delle scoperte che hanno riguardato negli ultimi anni questo informazioni sul numero di pubblicazioni su riviste con IF > 4 < 10 e > 10, settore della pediatria ha aperto la strada per una migliore comprensione individuando anche i gruppi che hanno capacità autoctone, come dei meccanismi fisiopatologici, biochimici e molecolari, di molti disordini dimostrato dalla presenza di primo o ultimo autore della pubblicazione. rari del sistema immune. Ciò è stato reso possibile dalla creazione di un Inoltre, mediante l'indice di Hirsch (H-index), è stato possibile quantizzare Network di Centri italiani dedicati a questo gruppo di malattie rare. La l'impatto scientifico di ciascun autore. Tale analisi ha consentito altresì di preparazione di protocolli di studio retro-prospettici (al momento 11) ha valutare la presenza dei principali ricercatori italiani nel settore tra i Top permesso di ottenere informazioni sulla storia naturale in coorti di pazienti Italian Scientists (TIS) e nei database di ranking professionale internazionali affetti da malattie molto rare, ponendo il nostro Paese all’avanguardia in (Expertscape). questo ambito. Il riconoscimento di specifici meccanismi patogenetici ha Nel contest della partecipazione alla ERN RITA (che include anche le consentito lo sviluppo di approcci terapeutici innovativi personalizzati malattie autoinfiammatorie, in Italia assistite dai Centri di Reumatologia), basati sul meccanismo di malattia del singolo paziente, consentendo a molti sono stati identificati i Centri che partecipano come Core Centers e i Centri di essi, di essere curati in maniera definitiva. che in questa prima fase sono Affiliated. È stata infine condotta un’analisi Al fine di valutare i risultati dei vari gruppi che in Italia si occupano della dei Centri che, avendo ottenuto l’endorsement ministeriale quali centri gestione diagnostico terapeutica e di ricerca in tale settore, è stata delle immunodeficienze, consentono di formalizzare la mappatura effettuata una valutazione della produzione scientifica dell’ultimo triennio nazionale dei Centri con expertise. mediante l’utilizzo del motore di ricerca PubMed, basato sul database

144

Pubblicazioni

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

APDS Chiriaco M, Brigida I, Ariganello P, A case of APDS patient: defects Clin Immunol. 2015 4,03 OPBG Di Cesare S, Di Matteo G, Taus F, in maturation and function and Cittaro D, Lazarevic D, Scarselli A, decreased in vitro anti- Santilli V, Attardi E, Stupka E, mycobacterial activity in the Giannelli S, Fraziano M, Finocchi A, myeloid compartment Rossi P, Aiuti A, Palma P, Cancrini C

Agammaglobulinemia Cifaldi C, Scarselli A, Petricone D, Agammaglobulinemia Clin Immunol. pii: S1521 2016 4,03 OPBG Di Cesare S, Chiriaco M, Claps A, associated to nasal polyposis 6616(16)30410-7 Rossi P, Calzoni E, Yamazaki Y, due to a hypomorphic RAG1 Notarangelo LD, Di Matteo G, mutation in a 12 years old boy Cancrini C, Finocchi A

Immunological Aranburu A, Piano Mortari E, Human B-cell memory is Eur J Immunol. 2016 Nov 16 2016 4,18 OPBG disorder, general Baban A, Giorda E, Cascioli S, shaped by age- and tissue- Marcellini V, Scarsella M, Ceccarelli specific T-independent and GC- S, Corbelli S, Cantarutti N, De Vito dependent events R, Inserra A, Nicolosi L, Lanfranchi A, Porta F, Cancrini C, Finocchi A, Carsetti R

PID Cifaldi L, Pinto RM, Rana I, Caniglia NK cell effector functions in a Immunol Lett. 2016 2016 2,483 OPBG M, Angioni A, Petrocchi S, Cancrini Chédiak-Higashi patient Dec;180:46-53 C, Cursi L, Palumbo G, Zingoni A, undergoing cord blood Gismondi A, Rossi P, Santoni A, transplantation: Effects of in Cerboni C vitro treatment with IL-2

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Ataxia-Teleangiectasia Cantarutti N, Claps A, Angelino G, Multi-drugs resistant acne Ital J Pediatr.41:23. doi: 2015 1,614 OPBG Chessa L, Callea F, El Hachem M, rosacea in a child affected by 10.1186/s13052-015-0125-7 Diociaiuti A, Finocchi A Ataxia-Telangiectasia: successful treatment with Isotretinoin

CGD Cotugno N, Finocchi A, Cagigi A, Di Defective B-cell proliferation J Allergy Clin Immunol. 2015 11,48 OPBG Matteo G, Chiriaco M, Di Cesare S, and maintenance of long-term 135(3):753-61.e2 Rossi P, Aiuti A, Palma P, Douagi I memory in patients with chronic granulomatous disease

22q11.2 deletion Di Cesare S, Puliafito P, Ariganello Autoimmunity and regulatory T Pediatr Allergy Immunol. 2015 3,4 OPBG syndrome P, Marcovecchio GE, Mandolesi M, cells in 22q11.2 deletion 226(6):591-4 Capolino R, Digilio MC, Aiuti A, syndrome patients Rossi P, Cancrini C

Autoimmunity and Bellacchio E, Palma A, Corrente S, The possible implication of the Gene. 2549(2):286-94 2014 2,415 OPBG immunodeficiency Di Girolamo F, Helen Kemp E, Di S250C variant of the Matteo G, Comelli L, Carsetti R, autoimmune regulator protein Cascioli S, Cancrini C, Fierabracci A in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant

Antibody deficiency Di Pierro V, Zuntini R, Cancrini C, Consanguinity and polygenic Hum Hered. ;77(1-4):144-9 2014 S.Orsola Malpighi Finocchi A, Angelino G, Rossi P, diseases: a model for antibody Bologna Ferrari S deficiencies

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22q11.2 deletion Cancrini C, Puliafito P, Digilio MC, Clinical features and follow-up J Pediatr.164(6):1475-80.e2 2014 3,89 OPBG syndrome Soresina A, Martino S, Rondelli R, in patients with 22q11.2 Consolini R, Ruga EM, Cardinale F, deletion syndrome Finocchi A, Romiti ML, Martire B, Bacchetta R, Albano V, Carotti A, Specchia F, Montin D, Cirillo E, Cocchi G, Trizzino A, Bossi G, Milanesi O, Azzari C, Corsello G, Pignata C, Aiuti A, Pietrogrande MC, Marino B, Ugazio AG, Plebani A, Rossi P; Italian Network for Primary Immunodeficiencies

Neutropenia Angelino G, Caruso R, D'Argenio P, Etiology, clinical outcome, and Pediatr Allergy Immunol. 2014 3,4 OPBG Calò Carducci FI, Pascone R, laboratory features in children 25(3):283-9 Lanciotti M, Cancrini C, Palma P, with neutropenia: analysis of Aiuti A, Rossi P, Finocchi A 104 cases

CGD Chiriaco M, Salfa I, Matteo GD, Chronic Granulomatous Pediatr Allergy Immunol. 2016 3,40 OPBG Rossi P, Finocchi A Disease: clinical, molecular and 27(3):242-53 therapeutic aspects

CGD Claps A, Della Corte M, Gerocarni How should eosinophilic Pediatr Nephrol. 9(11):2229- 2014 2,516 OPBG Nappo S, Francalanci P, Palma P, cystitis be treated in patients 33 Finocchi A with chronic granulomatous disease?

CGD Finocchi A, Claps A, Serafinelli J, Chronic granulomatous disease Pediatr Infect Dis J. 33(5):525- 2014 3,14 OPBG Salfa I, Longo D, Di Matteo G, Aiuti presenting with salmonella 8 A, Rossi P brain abscesses

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CID Cifaldi C ,Angelino G, Chiriaco M, Late-onset combined immune- Pediatr Allergy Immunol. 2017 3,95 OPBG Di Cesare S, Claps A, Serafinelli J, deficiency due to LIGIV 28(2):203-206 Rossi P, Antoccia A, Di Matteo G, mutations in a 12 years old Cancrini C, De Villartay JP, Finocchi patient A

PID Marasco E, Farroni C, Cascioli S, B-cell activation with CD40L or Eur J Immunol. 47(1):131-143 2017 4,18 OPBG Marcellini V, Scarsella M, Giorda E, CpG measures the function of Piano Mortari E, Leonardi L, B-cell subsets and identifies Scarselli A, Valentini D, Cancrini C, specific defects in Duse M, Grimsholm O, Carsetti R immunodeficient patients

CID Scarselli A, Di Cesare S, Di Matteo Combined immunodeficiency J Allergy Clin Immunol. 2016 11,48 OPBG G, De Matteis A, Ariganello P, due to JAK3 mutation in a child 137(3):948-51.e5 Romiti ML, Cascioli S, De Vito R, presenting with skin granuloma Bertaina A, Locatelli F, Gaspar HB, Aiuti A, Rossi P, Gilmour K, Cancrini C

PID Vultaggio A, Azzari C, Milito C, Subcutaneous Immunoglobulin Clin Drug Investig. 2015 2015 1,56 Careggi Firenze Finocchi A, Toppino C, Spadaro G, Replacement Therapy in Mar;35(3):179-85 Trizzino A, Baldassarre M, Paganelli Patients with Primary R, Moschese V, Soresina A, Immunodeficiency in Routine Matucci A Clinical Practice: The VISPO Prospective Multicenter Study

Immunological Brigida I, Chiriaco M, Di Cesare S, Large Deletion of MAGT1 Gene J Clin Immunol. 37(1):32-35. 2017 3,09 OPBG disorder, general Cittaro D, Di Matteo G, Giannelli S, in a Patient with Classic Kaposi Lazarevic D, Zoccolillo M, Stupka E, Sarcoma, CD4 Lymphopenia, Jenkner A, Francalanci P, Livadiotti and EBV Infection S, Morawski A, Ravell J, Lenardo M, Cancrini C, Aiuti A, Finocchi A

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Autoimmunity and Zama D, Cocchi I, Masetti R, Late-onset of Ital J Pediatr 2014 1,614 Sant'Orsola immunodeficiency Specchia F, Alvisi P, Gambineri E, immunodysregulation, Malpighi,Bologna Lima M, Pession A polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.

PID Pulvirenti F, Zuntini R, Milito C, Clinical Associations of Biallelic J Immunol Res 3,276 S.Orsola Malpighi Specchia F, Spadaro G, Danieli MG, and Monoallelic TNFRSF13B Bologna Pession A, Quinti I, Ferrari S Variants in Italian Primary Antibody Deficiency Syndromes.

Agammaglobulinemia Dellepiane R.M., Dell’Era L., Beilis Nutritional Status in JClin Immunol. 35(7):595-7 2015 3.094 Policlinico Ca L.V., Pavesi P., Raimondi M., Agammaglobulinemia: An Granda Milano Soresina A., Lougaris V., Carrabba Italian Multicenter Study M.,Martire B., Martino S., Russo G., Patuzzo G., Pignata C., Spadaro G., Gallizzi R., Duse M., Specchia F.G.,Moschese V., Marseglia G.L., Pietrogrande M.C., Bedogni G., Agostoni C

Complement Dellepiane R.M., Dell’Era L., Pavesi Invasive meningococcal Orphanet J Rare Dis. 11(1):64- 2016 3.290 Policlinico Ca deficiency P., Macor P., Giordano M., De disease in three siblings with 69 Granda Milano Maso L., Pietrogrande M.C., Cugno hereditary deficiency of the M 8(th) component of complement: evidence for the importance of an early diagnosis

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ADA-SCID Carriglio N, Klapwijk J, Hernandez Good Laboratory Practice Hum Gene Ther Clin Dev 2017 2,889 San Raffaele- RJ, Vezzoli M, Chanut F, Lowe R, Preclinical Safety Studies for 28:17-27 Milano Elena D, Nord M, Albertini P, GSK2696273 (MLV Vector- Cristofori P, Richards J, Staton H, Based Ex Vivo Gene Therapy Appleby J, Aiuti A, Sauer AV. for Adenosine Deaminase Deficiency Severe Combined Immunodeficiency) in NSG Mice.

ADA-SCID Sauer AV, Hernandez RJ, Fumagalli F, Alterations in the brain Sci Rep., 7: 40136 2017 5,228 San Raffaele- Bianchi V, Poliani PL, Dallatomasina C, adenosine metabolism cause Milano Riboni E, Politi LS, Tabucchi A, Carlucci behavioral and neurological F, Casiraghi M, Carriglio N, Cominelli impairment in ADA-deficient M, Forcellini CA, Barzaghi F, Ferrua F, mice and patients Minicucci F, Medaglini S, Leocani L, la Marca G, Notarangelo LD, Azzari C, Comi G, Baldoli C, Canale S, Sessa M, D'Adamo P, Aiuti A.

PID Ingo DM, Redaelli D, Rossella V, Bone marrow-derived CD34- Cytotherapy 18:1560-1563 2016 3,625 San Raffaele- Perini O, Santoleri L, Ciceri F, Aiuti fraction: A rich source of Milano A, Bernardo ME mesenchymal stromal cells for clinical application.

PID Bernardo ME, Aiuti A The role of conditioning in Hum Gene Ther 27:741-748 2016 4,062 San Raffaele- hematopoietic stem cell gene Milano therapy

CGD Farinelli G, Jofra Hernandez R, Lentiviral Vector Gene Therapy Mol Ther, 24:1873-1880 2016 6,938 San Raffaele- Rossi A, Ranucci S, Sanvito F, Protects XCGD Mice From Milano Migliavacca M, Brombin C, Pramov Acute Staphylococcus aureus A, Di Serio C, Bovolenta C, Gentner Pneumonia and Inflammatory B, Bragonzi A, Aiuti A Response

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PID Aiuti A, Naldini L Safer conditioning for blood Nat Biotechnol 34: 721-723 2016 43,113 San Raffaele- stem cell transplants Milano

WAS Biasco L, Pellin D, Scala S, Dionisio In Vivo Tracking of Human Cell Stem Cell 19:107-119 2016 22,387 San Raffaele- F, Basso-Ricci L, Leonardelli L, Hematopoiesis Reveals Milano Scaramuzza S, Baricordi C, Ferrua Patterns of Clonal Dynamics F, Cicalese MP, Giannelli S, Neduva during Early and Steady-State V, Dow DJ, Schmidt M, Von Kalle C, Reconstitution Phases. Roncarolo MG, Ciceri F, Vicard P, Wit E, Di Serio C, Naldini L, Aiuti A

ADA-SCID Cicalese MP, Ferrua F, Castagnaro Update on the safety and Blood 128: 45-54 2016 11,847 San Raffaele- L, Pajno R, Barzaghi F, Giannelli S, efficacy of retroviral gene Milano Dionisio F, Brigida I, Bonopane M, therapy for immunodeficiency Casiraghi M, Tabucchi A, Carlucci F, due to adenosine deaminase Grunebaum E, Adeli M, Bredius deficiency. RG, Puck JM, Stepensky P, Tezcan I, Rolfe K, De Boever E, Reinhardt RR, Appleby J, Ciceri F, Roncarolo MG, Aiuti A

WAS Brigida I, Scaramuzza S, Lazarevic A novel genomic inversion in J Allergy Clin Immunol 138: 2016 12,485 San Raffaele- D, Cittaro D, Ferrua F, Leonardelli Wiskott-Aldrich-associated 619-622 Milano L, Alessio M, Forma O, Lanzani C, autoinflammation. Viarengo G, Ciceri F, Jankovic M, Pesce F, Aiuti A, Cicalese MP.

CGD Migliavacca M, Assanelli A, Ferrua Pioglitazone as a novel J Allergy Clin Immunol, 137: 2016 12,485 San Raffaele- F, Cicalese MP, Biffi A, Frittoli M, therapeutic approach in 1913-1915.e.2 Milano Silvani P, Chidini G, Calderini E, chronic granulomatous disease Mandelli A, Camporesi A, Milani R, Farinelli G, Nicoletti R, Ciceri F, Aiuti A, Bernardo ME

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PID Scarselli A, Di Cesare S, Capponi C, Longitudinal Evaluation of J Clin Immunol 35: 373-383 2015 3,094 San Raffaele- Cascioli S, Romiti ML, Di Matteo G, Immune Reconstitution and B- Milano Simonetti A, Palma P, Finocchi A, cell Function After Lucarelli B, Pinto RM, Rana I, Hematopoietic Cell Palumbo G, Caniglia M, Rossi P, Transplantation for Primary Carsetti R, Cancrini C, Aiuti A Immunodeficiency.

PID Cicalese MP, Aiuti A Clinical applications of gene Human Gene Ther 26: 210-219 2015 6,938 San Raffaele- therapy for primary Milano immunodeficiencies

PID Biasco L, Scala S, Basso Ricci L, In vivo tracking of T cells in Sci Transl Med 7:273ra13 2015 16,264 San Raffaele- Dionisio F, Baricordi C, Calabria A, humans unveils decade-long Milano Giannelli S, Cieri N, Barzaghi F, survival and activity of Pajno R, Al-Mousa H, Scarselli A, genetically modified T memory Cancrini C, Bordignon C, Roncarolo stem cells. MG, Montini E, Bonini C, Aiuti A

WAS Bosticardo M, Ferrua F, Cavazzana Gene therapy for Wiskott- Curr Gene Ther 14:413-421 2014 2,542 San Raffaele- M, Aiuti A Aldrich Syndrome Milano

PID Sauer AV, Di Lorenzo B, Carriglio N, Progress in gene therapy for Curr Opin Allergy Clin 2014 N.A. San Raffaele- Aiuti A primary immunodeficiencies Immunol. 14:527-534 Milano using lentiviral vectors.

X-CGD Chiriaco M, Farinelli G, Capo V, Dual-regulated lentiviral vector Mol Ther 22: 1472-1483 2014 6,227 San Raffaele- Zonari E, Scaramuzza S, Di Matteo for gene therapy of X-linked Milano G, Sergi LS, Migliavacca M, chronic granulomatosis Hernandez RJ, Bombelli F, Giorda E, Kajaste-Rudnitski A, Trono D, Grez M, Rossi P, Finocchi A, Naldini L, Gentner B, Aiuti A

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PID Farinelli G, Capo V, Scaramuzza S, Lentiviral vectors for the J Inherit Metab Dis. 37: 525- 2014 3,365 San Raffaele- Aiuti A. treatment of primary 533 Milano immunodeficiencies

ADA Brigida I, Sauer AV, Ferrua F, B-cell development and J Allergy Clin Immunol. 2014 11,476 San Raffaele- Giannelli S, Scaramuzza S, Pistoia functions and therapeutic 133:799-806.e10 Milano V, Castiello MC, Barendregt BH, options in adenosine Cicalese MP, Casiraghi M, Brombin deaminase-deficient patients. C, Puck J, Müller K, Notarangelo LD, Montin D, van Montfrans JM, Roncarolo MG, Traggiai E, van Dongen JJ, van der Burg M, Aiuti A.

PID Martire B, Panza R, Pillon M, CHARGE syndrome and Pediatr Allergy Immunol. 2016 3,94 Policlinico Bari Delvecchio M common variable 27(5):546-50. IF 3,94 immunodeficiency: A case report and review of literature.

Ataxia-Teleangiectasia Chessa L, Leuzzi V, Plebani A, Intra-erythrocyte infusion of Orphanet J Rare Dis. 9;9(1):5 2014 3,29 AO S.Andrea Soresina A, Micheli R, D'Agnano D, dexamethasone reduces Roma Venturi T, Molinaro A, Fazzi E, neurological symptoms in Marini M, Ferremi Leali P, Quinti I, ataxia teleangiectasia patients: Cavaliere FM, Girelli G, results of a phase 2 trial Pietrogrande MC, Finocchi A, Tabolli S, Abeni D, Magnani M. .

Agammaglobulinemia Lougaris V, Baronio M, Vitali M, Bruton tyrosine kinase J Allergy Clin Immunol. pii: 2014 11,2 Spedali Civili Tampella G, Cattalini M, Tassone L, mediates TLR9-dependent S0091-6749(14)00084-0 Brescia Soresina A, Badolato R, Plebani A human dendritic cell activation

CID Caracciolo S, Moratto D, Giacomelli M, Expansion of CCR4+ activated T Clin Immunol. 2 pii: S1521- 2014 4.034 Spedali Civili Negri S, Lougaris V, Porta F, Pajno G, cells is associated with memory 6616(14)00072-2 Brescia Salpietro A, Montin D, Dinwiddie DL, B cell reduction in DOCK8- Kingsmore SF, Plebani A, Badolato R deficient patients

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Agammaglobulinemia Lougaris V, Vitali M, Baronio M, Autosomal recessive J Clin Immunol. 34(4):425-7. 2014 3.094 Spedali Civili Moratto D, Tampella G, Biasini A, agammaglobulinemia: the third Brescia Badolato R, Plebani A case of Igβ deficiency due to a novel non-sense mutation

PID Lougaris V, Vitali M, Baronio M, BAFF-R mutations in Good's Clin Immunol. 153(1):91-3. 2014 4.034 Spedali Civili Tampella G, Plebani A syndrome Brescia

PID Folsi V, Miglietti N, Lombardi A, Cardiomyopathy in a male Ital J Pediatr. 12;40:45. 2014 1.614 Spedali Civili Boccacci S, Utyatnikova T, Donati patient with neutropenia and Brescia C, Squassabia L, Gazzola L, Bosio I, growth delay Borghi A, Grassi V, Notarangelo LD, Plebani A

CID Lougaris V, Baronio M, Vitali M, Profound T-cell defects in Pediatr Allergy 2014 3.947 Spedali Civili Gualdi G, Tampella G, Moratto D, Dubowitz syndrome. Immunol.25(5):511-3. Brescia Cattalini M, Pilotta A, Buzi F, Calzavara-Pinton P, Plebani A

SCG Notarangelo L, Savoldi G, Cavagnini Severe congenital neutropenia Ital J Pediatr. 14;40(1):80 2014 1.614 Spedali Civili S, Bennato V, Vasile S, Pilotta A, due to G6PC3 deficiency: early Brescia Plebani A, Porta F. and delayed phenotype in two patients with two novel mutations

PID Badolato R Primary immunodeficiences: Pediatr Allergy Immunol. 2014 3.947 Spedali Civili options for the future 25(1):27-9 Brescia

CID Dotta L, Badolato R Primary immunodeficiencies Immunol Lett. 161(2):222-5. 2014 2.483 Spedali Civili appearing as combined Brescia lymphopenia, neutropenia, and monocytopenia

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CVID/IgA deficiency Gualdi G, Lougaris V, Baronio M, Burden of Skin Disease in J Investig Allergol Clin 2015 2.131 Spedali Civili Vitali M, Tampella G, Moratto D, Selective IgA Deficiency and Immunol. 25(5):369-71 Brescia Tanghetti P, Monari P, Calzavara- Common Variable Pinton P, Plebani A Immunodeficiency

APDS Lougaris V, Faletra F, Lanzi G, Vozzi Altered germinal center Clin Immunol. 159: 33-6. 2015 4.034 Spedali Civili D, Marcuzzi A, Valencic E, Piscianz reaction and abnormal B cell Brescia E, Bianco A, Girardelli M, Baronio peripheral maturation in M, Loganes C, Fasth A, Salvini F, PI3KR1-mutated patients Trizzino A, Moratto D, Facchetti F, presenting with HIGM-like Giliani S, Plebani A, Tommasini A phenotype

CVID Lougaris V, Ravelli A, Villanacci V, Gastrointestinal pathologic Dig Dis Sci. 60:2384-9. 2015 2.516 Spedali Civili Salemme M, Soresina A, Fuoti M, abnormalities in pediatric- and Brescia Lanzarotto F, Lanzini A, Plebani A, adult-onset common variable Bassotti G immunodeficiency

CVID Lougaris V, Tabellini G, Vitali M, Defective natural Killer-cell J Allergy Clin Immunol. 2015 11.200 Spedali Civili Baronio M, Patrizi O, Tampella G, cytotoxic activity in NFKB2- 135:1641-3 Brescia Biasini A, Moratto D, Parolini S, mutated CVID-like disease. Plebani A

Antibody deficiency Lougaris V, Baronio M, Moratto D, Monoallelic BAFFR J Clin Immunol. 36(1):1-3 2016 3.094 Spedali Civili Cardinale F, Plebani A P21R/H159Y mutations and Brescia familiar primary antibody deficiencies.

CVID Lougaris V, Baronio M, Masneri S, Correlation of bone marrow Clin Immunol. 163:10-13 2016 4.034 Spedali Civili Lorenzini T, Cattivelli K, Tampella abnormalities, peripheral Brescia G, Soresina A, Moratto D, Plebani lymphocyte subsets and clinical A features in uncomplicated common variable immunodeficiency (CVID) patients

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PID Dotta L, Scomodon O, Padoan R, Clinical heterogeneity of Clin Immunol. 164:1-9 2016 4.034 Spedali Civili Timpano S, Plebani A, Soresina A, dominant chronic Brescia Lougaris V, Concolino D, Nicoletti mucocutaneous candidiasis A, Giardino G, Licari A, Marseglia disease: presenting as G, Pignata C, Tamassia N, Facchetti treatment-resistant candidiasis F, Vairo D, Badolato R and chronic lung disease

PID Lougaris V, Salpietro V, Cutrupi M, Proteus syndrome: evaluation Orphanet J Rare Dis. 11:3 2016 3.290 Spedali Civili Baronio M, Moratto D, Pizzino MR, of the immunological profile. Brescia Mankad K, Briuglia S, Salpietro C, Plebani A

22q11.2 deletion Giacomelli M, Kumar R, Soresina A, Reduction of CRKL expression J Allergy Clin Immunol. 2016 11.200 Spedali Civili syndrome Tamassia N, Lorenzini T, Moratto in patients with partial 138:229-240 Brescia D, Gasperini S, Cassatella M, DiGeorge syndrome is Plebani A, Lougaris V, Badolato R associated with impairment of T-cell functions

PID Dotta L, Scomodon O, Padoan R, Clinical and immunological Data Brief. 7:311-5. 2016 Spedali Civili Timpano S, Plebani A, Soresina A, data of nine patients with Brescia Lougaris V, Concolino D, Nicoletti chronic mucocutaneous A, Giardino G, Licari A, Marseglia candidiasis disease. G, Pignata C, Tamassia N, Facchetti F, Vairo D, Badolato R

APDS Lougaris V, Patrizi O, Baronio M, p85α is an intrinsic regulator of J Allergy Clin Immunol. 2016 11.200 Spedali Civili Tabellini G, Tampella G, Lanzi G, human natural killer cell 138:605-608 Brescia Salvini F, Trizzino A, Parolini S, effector functions. Plebani A

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PID Prandini A, Salvi V, Colombo F, Impairment of dendritic cell Blood 127:3382-6. 2016 10.558 Spedali Civili Moratto D, Lorenzi L, Vermi W, De functions in patients with Brescia Francesco MA, Notarangelo LD, adaptor protein-3 complex Porta F, Plebani A, Facchetti F, deficiency Sozzani S, Badolato R

CVID Lougaris V, Moratto D, Baronio M, Early and late B-cell J Allergy Clin Immunol. 2016 11.200 Spedali Civili Tampella G, van der Meer JW, developmental impairment in Brescia Badolato R, Fliegauf M, Plebani A. nuclear factor kappa B, subunit 1-mutated common variable immunodeficiency disease

CGD Bondioni MP, Lougaris V, Di Early Identification of Lung J Clin Immunol 2016 3.094 Spedali Civili Gaetano G, Lorenzini T, Soresina A, Fungal Infections in Chronic Brescia Laffranchi F, Gatta D, Plebani A Granulomatous Disease (CGD) Using Multidetector Computer Tomography

PID Lougaris V, Facchini E, Baronio M, Progressive severe B cell Clin Immunol. 173:181-183. 2016 4.034 Spedali Civili Lorenzini T, Moratto D, Specchia F, deficiency in pediatric Brescia Plebani A Rubinstein-Taybi syndrome

PID Lougaris V, Patrizi O, Baronio M, NFKB1 regulates human NK cell Clin Immunol. pii: S1521- 2016 4.034 Spedali Civili Tabellini G, Tampella G, Damiati E, maturation and effector 6616(16)30170-X. doi: Brescia Frede N, van der Meer JW, Fliegauf functions 10.1016/j.clim.2016.11.012 M, Grimbacher B, Parolini S, Plebani A

Ataxia-Teleangiectasia Piane M, Molinaro A, Soresina A, Novel compound heterozygous J Neurol Sci. 15;371:48-53 2016 Spedali Civili Costa S, Maffeis M, Germani A, mutations in a child with Brescia Pinelli L, Meschini R, Plebani A, Ataxia-Telangiectasia showing Chessa L, Micheli R unrelated cerebellar disorders

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ALPS Tripodi SI, Mazza C, Moratto D, Atypical presentation of Immunol Lett.177:22-4 2016 2.483 Spedali Civili Ramenghi U, Caorsi R, Gattorno M, autoimmune Brescia Badolato R lymphoproliferative syndrome due to CASP10 mutation

PID Lorenzini T, Dotta L, Giacomelli M, STAT mutations as program J Leukoc Biol. pii: jlb.5RI0516- 2016 4.195 Spedali Civili Vairo D, Badolato R switchers: turning primary 237RR. Brescia immunodeficiencies into autoimmune diseases

Agammaglobulinemia Foiadelli T, Savasta S, Battistone A, Nucleotide variation in Sabin BMC Infect Dis.10;16:277 2016 2.690 IRCSS S. Matteo Kota M, Passera C, Fiore S, Bino S, type 3 poliovirus from an Pavia Amato C, Lozza A, Marseglia GL, Albanian infant with Fiore L agammaglobulinemia and vaccine associatedpoliomyelitis

PID Tagliacarne SC, Valsecchi C, Impact of passive smokeand/or Immunol Lett.165(2):70-7 2015 2.483 IRCSS S. Matteo Castellazzi AM, Licari A, Klersy C, atopy on adenoid Pavia Montagna L,Castagnoli R, Benazzo immunoglobulin production in M, Ciprandi G, Marseglia GL. children

PID Moscato GM, Di Matteo G, Ciotti Dual response to human J Eur Acad Dermatol 2016 3.029 Policlinico Tor M, Di Bonito P, Andreoni M, papilloma virus vaccine in an Venereol.30(7):1212-3 Vergata Moschese V immunodeficiency disorder: resolution of plantar warts and persistence of condylomas

Antibody deficiency Moschese V, Cavaliere FM, Decreased IgM, IgA, and IgG J Allergy Clin Immunol. 2016 12.485 Policlinico Tor Graziani S, Bilotta C, Milito C, Chini response to pneumococcal 137(2):617-9. Vergata L, Quinti I vaccine in children with transient hypogammaglobulinemia of infancy.

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Autoimmunity Chini L, Orlacchio A, Silenzi R, Della Neuroimaging is useful for Minerva Pediatr. 66(1):89-93 2014 0,532 Policlinico Tor Gatta F, Iannini R, Monteferrario E, monitoring disease activity in Vergata Spano S, Guarino M, Moschese V, linear scleroderma "en coup de Simonetti G sabre".

22q11.2 deletion Cirillo E., Giardino G., Gallo V., Intergenerational and BMC Med Genet. 15: 1. 2014 2.083 Policlinico syndrome Puliafito P., Azzari C., Bacchetta R., intrafamilial phenotypic Federico II Cardinale F., Cicalese M.P., variability in 22q11.2 deletion Consolini R., Martino S., Martire B., syndrome subjects Molinatto C., Plebani A., Scarano G., Soresina A., Cancrini C., Rossi P., Digilio M.C., Pignata C

22q11.2 deletion Giardino G., Cirillo E., Maio F., Gastrointestinal involvement in Scand J Gastroenterol.49: 247- 2014 2.361 Policlinico syndrome Gallo V., Esposito T., Naddei R., patients affected with 22q11.2 79. Federico II Grasso F., Pignata C. deletion syndrome

SCID Palamaro L., Romano R., Fusco A., FOXN1 in cell development and Int Rev Immunol. 33: 83-93. 2014 4.103 Policlinico Giardino G., Gallo V., Pignata C human diseases Federico II

SCID Pignata C., Romano R FOX genes and the immune Int Rev Immunol. 33: 81-2 2014 4.103 Policlinico response. Federico II

PID D’Assante R., Fusco A., Palamaro Unraveling the link between Int Rev Immunol. 35: 25-38 2015 4.103 Policlinico L., Giardino G., Gallo V., Cirillo E., ectodermal disorders and Federico II Pignata C. primary immunodeficiencies

PID Pignata C., D’Assante R., Sousa AE Thymic stromal alterations and Front Immunol. 6: 81, 2015 2015 Policlinico genetic disorders of immune Federico II system.

SCID Cirillo E., Giardino G., Gallo V., Severe combined Ann N Y Acad Sci. 1356: 90- 2015 4.383 Policlinico D’Assante R., Grasso F., Romano immunodeficiency-an update. 106 Federico II R., Di Lillo C., Galasso G., Pignata C

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PID Giardino G., Cirillo E., Gallo V., B cells from Nuclear factor kB Clin Immunol. 161: 131-5 2015 3.672 Policlinico Esposito T., Fusco F., Conte M.I., essential modulator deficient Federico II Quinti I., Ursini MV., Carsetti R., patients fail to differentiate to Pignata C antibody secreting cells in response to TLR9 ligand

PID Giardino G., Gallo V., Somma D., Targeted next generation J All Clin Immunol. 137: 1591- 2015 11.476 Policlinico Farrow E.G., Thiffault I., D'Assante sequencing revealed MYD88 5 Federico II R., Donofrio V., Paciolla M., Ursini deficiency in a child with MV., Leonardi A., Saunders C.J., chronic Yersiniosis and Pignata C granulomatous lymphadenitis

PID Giardino G., Somma D., Cirillo E., Novel STAT1 gain-of-function Pediatr Allergy Immunol. 27: 2016 3.397 Policlinico Ruggiero G., Terrazzano G., Rubino mutation and suppurative 220-3, Federico II V., Ursini M.V., Vairo D., Badolato infections R., Carsetti R., Leonardi A., Puel A., Pignata C

22q11.2 deletion Romano R., Cirillo, E., Giardino G., A broncho-vascular anomaly in J Investig Allergol Clin 2016 2.596 Policlinico syndrome Gallo V., Mollica C., Pignata C a patient with 22q11.2 deletion Immunol. 26: 390-2 Federico II syndrome.

Immunodeficiency Giardino G., Gallo V., Prencipe R., Unbalanced immune system: Front Pediatr. 4: 107 2016 Policlinico and autoimmunity Gaudino G., Romano R., De immunodeficiencies and Federico II Cataldis M., Lorello, P., Palamaro autoimmunity L., Di Giacomo C., Capalbo D., Cirillo E., D’Assante R., Pignata C

PID Gallo V., Dotta L., GiardinoG., Diagnostics of Primary Front Immunol. 7: 466. 2016 5.695 Policlinico Cirillo E., Lougaris V., D’AssanteR., Immunodeficiencies through Federico II PrandiniA., ConsoliniR., Farrow Next Generation Sequencing. E.G., ThiffaultI., Saunders C.J., LeonardiA., PlebaniA., BadolatoR., Pignata C

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Ataxia-teleangiectasia D’Assante R., Fusco A., Palamaro Abnormal cell-clearance and Clin Immunol. 175: 16-25 2016 4.034 Policlinico L., Polishchuk E., Polishchuk R., accumulation of autophagic Federico II Grieco V., Prencipe M.R., Ballabio vesicles in lymphocytes from A., Pignata C patients affected with Ataxia- Teleangiectasia

PID Canessa C, Iacopelli J, Pecoraro A, Shift from intravenous or 16% Int J Immunopathol Pharmacol 2017 2.347 Ospedale Meyer Spadaro G, Matucci A, Milito C, subcutaneous replacement Firenze Vultaggio A, Agostini C, Cinetto F, therapy to 20% subcutaneous Danieli MG, Gambini S, Marasco C, immunoglobulin in patients Trizzino A, Vacca A, De Mattia D, with primary antibody Martire B, Plebani A, Di Gioacchino deficiencies M, Gatta A, Finocchi A, Licciardi F, Martino S, De Carli M, Moschese V, Azzari C

Ricci S, Romano F, Nieddu F, Picard OL-EDA-ID Syndrome: a Novel J Clin Immunol 2017 3.253 Ospedale Meyer C, Azzari C Hypomorphic NEMO Mutation Firenze PID Associated with a Severe Clinical Presentation and Transient HLH.

PID la Marca G, Canessa C, Giocaliere Diagnosis of immunodeficiency J Allergy Clin Immunol 2014 11.476 Ospedale Meyer E, Romano F, Malvagia S, Funghini caused by a purine nucleoside Firenze S, Moriondo M, Valleriani C, Lippi phosphorylase defect by using F, Ombrone D, Della Bona ML, tandem mass spectrometry on Speckmann C, Borte S, Brodszki N, dried blood spots Gennery AR, Weinacht K, Celmeli F, Pagel J, de Martino M, Guerrini R, Wittkowski H, Santisteban I, Bali P, Ikinciogullari A, Hershfield M, Notarangelo LD, Resti M, Azzari C

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SCID la Marca G, Giocaliere E, Malvagia The inclusion of ADA-SCID in J Pharm Biomed Anal 2014 2.979 Ospedale Meyer S, Funghini S, Ombrone D, Della expanded newborn screening Firenze Bona ML, Canessa C, Lippi F, by tandem mass spectrometry Romano F, Guerrini R, Resti M, Azzari C.

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Malattie rare in età pediatrica: Ricerca, farmaci orfani e reti europee di riferimento

Fibrosi cistica A cura della Società Italiana per lo studio della Fibrosi Cistica – SIFC (Presidente: Valeria Raia)

Valeria Raia

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Pubblicazioni, Trial clinici farmacologici, e Partecipazione Nazionale a ERN

Valeria Raia Professore Associato di Pediatria, Dipartimento di Scienze Mediche Traslazionale, Sezione Pediatrica, Università degli Studi di Napoli Federico II Responsabile Centro Regionale di Riferimento della Regione Campania Unità Pediatrica Presidente Società Italiana per lo studio della Fibrosi Cistica

La Fibrosi Cistica è una malattia genetica, cronica, ad alta complessità di (epidemiologia, gastroenterologia, pneumologia, infettivologia, genetica, gestione, dove la storia naturale della malattia è correlata alla continuità e microbiologia) impongono un continuo scambio fra ricercatori dedicati alla qualità delle cure. Per questo, pur presentando la Fibrosi Cistica prevalentemente alla clinica e quelli orientati alla ricerca biologica che vede caratteristiche di malattia rara, è tutelata dalla Legge Nazionale 548/93 che prestigiosi laboratori italiani orientati a diverse aree di sviluppo scientifico. prevede, fra l’altro, l’istituzione di centri di Riferimento Specializzati in tutte Tuttavia, motivi etici e caratteristiche di evolutività della malattia rendono le Regioni con funzioni di prevenzione, diagnosi e cura della malattia e, difficile la organizzazione di studi clinici controllati, con possibili rischi di dove esistano le condizioni adeguate, di ricerca. bias nella metodologia applicata e nella interpretazione dei risultati. Per I dati epidemiologici inclusi nel Registro Italiano di Fibrosi Cistica questo, il potenziale di nuove terapie in grado di modulare il difetto (www.registroitalianofibrosicistica.it) aggiornati al 2014, confrontati con genetico di base della malattia apre lo scenario al modello della medicina di quelli riportati a livello europeo ed internazionale, dimostrano che i modelli precisione sulla base di interventi individualizzati. di cura attuati in Italia sono adeguati, nonostante le numerose difficoltà di L’affiliazione alle Reti di Riferimento Europee (ERN-LUNG) di alcuni Centri di tipo organizzativo e sanitario, con più del 50% di malattia viventi oltre i 18 Riferimento per la cura della Fibrosi Cistica incardinati nelle rispettive anni. I dati incoraggianti degli ultimi anni provenienti dalla ricerca e dalla strutture Aziendali/Universitarie (Azienda Ospedaliera Universitaria identificazione di nuove terapie in grado, almeno per il momento, di Policlinico, Università degli Studi di Napoli Federico II, Napoli; Ospedale stabilizzare l’evoluzione della malattia legittimano le speranze per un futuro Pediatrico Bambino Gesù, Roma; Azienda Ospedaliero Universitaria Meyer, sempre migliore ed una sopravvivenza sempre più lunga. Per questo, se da Firenze; Azienda Ospedaliera Universitaria Integrata, Verona) conferma la una parte si conferma la necessità di incrementare studi clinici controllati in disponibilità e la competenza per una maggiore qualificazione e supporto grado di verificare l’efficacia e la sicurezza di nuovi farmaci che alla ricerca clinica non solo in Italia, ma anche a livello europeo. prepotentemente si affacciano nel panorama della Fibrosi Cistica, dall’altra il modello di medicina traslazionale può rappresentare oggi il vero collante tra la ricerca biologica preclinica e la ricerca clinica, trasferendo in modo rapido le nuove conoscenze dalla scienza di base a quella biomedica. Le diverse competenze che operano nel campo della Fibrosi Cistica 164

Pubblicazioni 1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Fibrosi Terlizzi V, Castaldo G, Genotype-phenotype Journal of Medical Genetics 54(4):224-235. 2017 5.650 Collaboration Cistica Salvatore D, Lucarelli M, Raia correlation and functional doi: 10.1136/jmedgenet-2016-103985. V, Angioni A, Carnovale V, studies in patients with Cirilli N, Casciaro R, Colombo cystic fibrosis bearing CFTR C, Di Lullo AM, Elce A, Iacotucci P, Comegna M, complex alleles. Scorza M, Lucidi V, Perfetti A, Cimino R, Quattrucci S, Seia M, Sofia VM, Zarrilli F, Amato F. Fibrosi Lucarelli M New era of cystic fibrosis: World Journal of Medical Genetics 7(1):1-9. 2017 0 Invited Cistica full mutational analysis and doi: 10.5496/wjmg.v7.i1.1 editorial personalized therapy. (no Pubmed) Fibrosi Lucarelli M, Bruno SM, The impact on genetic Journal of Molecular Diagnostics 18(4):554-565. 2016 5.201 Cistica Pierandrei S, Ferraguti G, testing of mutational doi: 10.1016/j.jmoldx.2016.02.007. Testino G, Truglio G, Strom patterns of CFTR gene in R, Quattrucci S different clinical macrocategories of cystic fibrosis. Fibrosi Lucarelli M Commentary on “The novel Journal of Human Genetics 61(6):471-472. 2016 2.487 Invited Cistica complex allele doi: 10.1038/jhg.2016.34. commentary [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies”.

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Fibrosi Lucarelli M, Bruno SM, A genotypic-oriented view Molecular Medicine21:257-275. doi: 2015 3.530 Cistica Pierandrei S, Ferraguti G, of CFTR genetics highlights 10.2119/molmed.2014.00229 Stamato A, Narzi F, Amato A, specific mutational Cimino G, Bertasi patterns underlying clinical S,Quattrucci S, Strom R Macro-categories of cystic fibrosis. Fibrosi Terlizzi V, Carnovale V, Clinical expression of Journal of Cystic Fibrosis 14:447-452. 2015 3.853 Collaboration Cistica Castaldo G, Castellani C, patients with the D1152H doi: 10.1016/j.jcf.2014.12.012. Cirilli N, Colombo C, Corti F, CFTR mutation. Cresta F, D'Adda A, Lucarelli M, Lucidi V, Macchiaroli A, Madarena E, Padoan R, Quattrucci S, Salvatore D, Zarrilli F, Raia V Fibrosi Savi D, Simmonds N, Di Relationship between BMC Pulmonary Medicine 15:151. doi: 2015 2.329 Cistica Paolo M, Quattrucci S, pulmonary exacerbations 10.1186/s12890-015-0151-7 Palange P, Banya W, and daily physical activity Hopkinson NS, Bilton D in adults with cystic fibrosis. Fibrosi Nebbioso M, Quattrucci S, Cystic fibrosis and new BioMed Research International :580373. 2014 1.579 Cistica Leggieri E, Spadea L, Vingolo trends by ophthalmological doi: 10.1155/2014/580373. EM. evaluation: a pilot study. Fibrosi Iebba V, Totino V, Bdellovibrio bacteriovorus Frontiers in Microbiology 5:280. 2014 4.165 Cistica Santangelo F, Gagliardi A, directly attacks doi: 10.3389/fmicb.2014.00280. Ciotoli L, Virga A, Ambrosi C, Pseudomonas aeruginosa Pompili M, De Biase RV, and Staphylococcus aureus Selan L, Artini M, Pantanella F, Mura F, Passariello C, cystic fibrosis isolates. Nicoletti M, Nencioni L, TrancassiniM,Quattrucci S, Schippa S.

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Fibrosi Savi D, De Biase RV, Burkholderia pyrrocinia in Transplantation Proceedings 46(1):295-7. 2014 0.982 Cistica Amaddeo A, Anile M, Venuta cystic fibrosis lung doi:10.1016/j.transproceed.2013.08.108 F, Ruberto F, Simmonds N, transplantation: a case Cimino G, Quattrucci S. report. Fibrosi Crisafulli E, Frizzelli A , Fantin Next generation beta Expert Opinion On Pharmacotherapy 2017 3.543 In press Cistica A, Manco A, Mangia A, Pisi adrenoreceptor agonists G, Fainardi V, Aiello M, for the treatment of Bertorelli G, Chetta A. asthma Fibrosi Crisafulli E, Zanini A, Pisi G, Inhaled beclometasone Expert Rev Respir Med. 10(5):481-90. 2016 2.1 Cistica Pignatti P, Poli G, Scuri M, dipropionate/formoterol Chetta A. fumarate extrafine fixed combination for the treatment of asthma.

Fibrosi Montanini L, Smerieri A, MiR-146a, miR-155, miR- J Clin Endocrinol Metab. 101(12):4955-4963 2016 5.5 Cistica Gullì M, Cirillo F, Pisi G, 370 and miR-708 are CFTR- Sartori C, Amarri S, dependent, Predicted Bernasconi S, Marmiroli N, FOXO1 Regulators and Street ME. Change at Onset of CFRDs. Fibrosi Montanini L, Cirillo F, HMGB1 Is Increased by J Clin Endocrinol Metab. 101(3):1274-81 2016 5.5 Cistica Smerieri A, Pisi G, Giardino I, CFTR Loss of Function, Is

d'Apolito M, Spaggiari C, Lowered by Insulin, and Bernasconi S, Amarri S, Increases In Vivo at Onset Street ME. of CFRD.

Fibrosi Fainardi V, Pisi G, Chetta A. Mepolizumab in the Immunotherapy 8(1):27-34. 2016 2.0 Cistica treatment of severe eosinophilic asthma. Fibrosi Cistica Taccetti G, Sly PD. Early detection of infection J Cyst Fibros. Sep;13(5):491-3 2014 3.475 with Pseudomonas aeruginosa in cystic fibrosis: the Holy Grail or an achievable goal?

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Fibrosi Cistica Dolce D, Cariani L, Campana Evaluation of specific J Cyst Fibros. Jan;13(1):116-7 2014 3.475 Collaboration S, Ravenni N, Mergni G, Biffi immune response in early P. A, Colombo C, Gagliardini R, aeruginosa infection in Cirilli N, Manso E, Padoan R, cystic fibrosis patients. Soncini E, Forte FR, D'Aprile A, Ratclif L, Amboni M, Casciaro R, Minicucci L, Borio T, Cosimi A, Vieni G, Zinnarello C, Fiscarelli E, Collura M, Pensabene T, Braggion C, Döring G, Taccetti G.

Fibrosi Buzzetti R, Cirilli N, Minicucci Cystic Fibrosis Database Pediatr Pulmonol. Sep;49(9):938-40 2014 2.704 Cistica L, Raia V, Salvatore D, (CFDB): A new web-based Maffeis P. tool for cystic fibrosis specialists Fibrosi Salvatore M, Floridia G, The Italian pilot external Clinical Biochemistry;49(7):601-5 2016 2.382 Cistica Amato A, Censi F, Carta C, de quality assessment Stefano MC, Ferrari G, Tosto program for cystic fibrosis F, Capoluongo E, Caruso U, sweat test Castaldo G, Cirilli N, Corbetta C, Padoan R, Raia V, Taruscio D. Fibrosi Maglione M, Montella S, Lung structure and Ital J Pediatr. Apr 12;43(1):34. 2017 1.614 Cistica Mollica C, Carnovale V, function similarities Iacotucci P, De Gregorio F, between primary ciliary Tosco A, Cervasio M, Raia V, dyskinesia and mild cystic Santamaria F. fibrosis: a pilot study.

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Fibrosi Ferrari E, Monzani R, Villella Cysteamine re-establishes Cell Death Dis. Jan 12;8(1):e2544. 2017 5.378 Cistica VR, Esposito S, Saluzzo F, the clearance of Rossin F, D'Eletto M, Tosco Pseudomonas aeruginosa A, De Gregorio F, Izzo V, by macrophages bearing Maiuri MC, Kroemer G, Raia V, Maiuri L. the cystic fibrosis-relevant F508del-CFTR mutation. Fibrosi Tosco A, De Gregorio F, A novel treatment of cystic Cell Death Differ. Aug;23(8):1380-93. 2016 8.128 Cistica Esposito S, De Stefano D, fibrosis acting on-target: Sana I, Ferrari E, Sepe A, cysteamine plus Salvadori L, Buonpensiero P, epigallocatechin gallate for Di Pasqua A, Grassia R, Leone CA, Guido S, De Rosa the autophagy-dependent G, Lusa S, Bona G, Stoll G, rescue of class II-mutated Maiuri MC, Mehta A, CFTR. Kroemer G, Maiuri L, Raia V. Fibrosi Maiuri L, De Stefano D, Raia The holy grail of cystic Ann Transl Med. May;3(Suppl 1):S24. 2015 Cistica V, Kroemer G. fibrosis research: pharmacological repair of the F508del-CFTR mutation. Fibrosi Franzese A, Mozzillo E, Screening of glucose Acta Diabetol. Aug;52(4):633-8. 2015 3.074 Cistica Fattorusso V, Raia V, Valerio metabolism derangements G. in pediatric cystic fibrosis patients: how, when, why. Fibrosi Calabrese C, Tosco A, Abete Randomized, single blind, J Cyst Fibros. Mar;14(2):203-10 2015 3.853 Cistica P, Carnovale V, Basile C, controlled trial of inhaled Magliocca A, Quattrucci S, glutathione vs placebo in De Sanctis S, Alatri F, patients with cystic Mazzarella G, De Pietro L, Turino C, Melillo E, fibrosis. Buonpensiero P, Di Pasqua A, Raia V.

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Fibrosi De Stefano D, Villella VR, Restoration of CFTR Autophagy. 10(11):2053-74 2014 11.753 Cistica Esposito S, Tosco A, Sepe A, function in patients with De Gregorio F, Salvadori L, cystic fibrosis carrying the Grassia R, Leone CA, De Rosa F508del-CFTR mutation. G, Maiuri MC, Pettoello- Mantovani M, Guido S, Bossi A, Zolin A, Venerando A, Pinna LA, Mehta A, Bona G, Kroemer G, Maiuri L, Raia V. Fibrosi Terlizzi V, Tosco A, Prediction of acute J Cyst Fibros. Sep;13(5):579-84 2014 3.475 Cistica Tomaiuolo R, Sepe A, Amato pancreatitis risk based on N, Casale A, Mercogliano C, PIP score in children with De Gregorio F, Improta F, cystic fibrosis. Elce A, Castaldo G, Raia V. Fibrosi Bruzzese E, Callegari Disrupted intestinal PLoS One. Feb 19;9(2):e87796. 2014 4.17 Cistica ML, Raia V, Viscovo S, Scotto microbiota and intestinal R, Ferrari S, Morelli L, inflammation in children Buccigrossi V, Lo Vecchio A, with cystic fibrosis and its Ruberto E, Guarino A. restoration with Lactobacillus GG: a randomised clinical trial. Fibrosi Veropalumbo C, Campanozzi Shwachman-Diamond Clin Res Hepatol Gastroenterol. Feb;39(1):e1-4 2015 1.872 Cistica A, De Gregorio F, Correra syndrome with A, Raia V, Vajro P. autoimmune-like liver disease and enteropathy mimicking celiac disease. Fibrosi Terlizzi V, Zito E, Mozzillo Can continuous Diabetes Technol Ther. Jan;17(1):64-7 2015 2.198 Cistica E, Raia V, Franzese A. subcutaneous insulin infusion improve health- related quality of life in patients with Shwachman- Bodian-Diamond syndrome and diabetes?

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Trial clinici farmacologici

1 2 3 4 5 6 7 8

Nome MR Sponsor Partners Ruolo Denominazione del trial Farmaco Durata Note

I N C P C T (anno)

Fibrosi Cistica Anthera X X “A phase III pivotal study in liprotamase X 2015 Multicentrico Pharmaceuticals patients with Cystic Fibrosis to evaluate a soluble, non- porcine, stable, pancreatic enzyme replacement product (liprotamase) for the treatment of exocrine pancreatic insufficiency”

Fibrosi Cistica Forest X X “A prospective parallel group Colobreathe, X 2014 Multicentrico comparison of Colobreathe, tobramycin and tobramycin nebulizer solution in the management of early lung infection with pseudomonas aeruginosa in paediatric patients with CysticFibrosis”.

Fibrosi Cistica Vertex X X VX BOI CF - X 2015 Multicentrico Pharmaceuticals

Fibrosi Cistica Vertex X X VX14-CFR-107 - X Multicentrico Pharmaceuticals

171

Fibrosi Cistica Vertex X X VX12-809- 103 “A Phase 3, VX770+VX809 X 2014 Multicentrico con Pharmaceuticals Randomized, Double-Blind, Centro Placebo-Controlled, Parallel- Coordinatore Group Study to Evaluate the italiano a Milano Efficacy and Safety of Lumacaftor in Combination With Ivacaftor in Subjects Aged 12 Years and Older With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation”

Fibrosi Cistica Vertex X X VX12809105 "A Phase 3, VX770+VX809 X 2016 Multicentrico Pharmaceuticals Rollover Study to Evaluate the Safety and Efficacy of Long-term Treatment With Lumacaftor in Combination With Ivacaftor in Subjects Aged 12 Years and Older With Cystic Fibrosis, Homozygous or Heterozygous for the F508del-CFTR Mutation" Fibrosi Cistica Vertex X X VX14-661-106 "A VX770+VX 661 X 2016 Multicentrico Pharmaceuticals Randomized, double blind, placebo controlled, parallel group study to evaluate the efficacy and safety of VX 661 in combination with ivacaftor".

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Fibrosi Cistica Vertex X X VX14-661-109 "A phase 3 VX770+VX 661 X 2016 Multicentrico Pharmaceuticals study of VX-661 in Combination with Ivacaftor in subjects aged 12 years and older with Cystic Fibrosis, who have one F508del-CFTR mutation and a second mutation that has been demonstrated to be clinically responsive to ivacaftor." Fibrosi Cistica Vertex X X VX14-661-108 "A Phase 3, VX770+VX 661 X 2016 Multicentrico Pharmaceuticals Randomized, Double-Blind, Placebo-Controlled, Crossover Study to Evaluate the Efficacy and Safety of Ivacaftor and VX-661 in Combination With Ivacaftor in Subjects Aged 12 Years and Older With Cystic Fibrosis, Heterozygous for the F508del-CFTR Mutation, and a Second Allele With a CFTR Mutation Predicted to Have Residual Function ."

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Fibrosi Cistica Vertex X X A Phase 3, Open-label, VX 661-VX770 X Multicentrico Pharmaceuticals Rollover Study to Evaluate the Safety and Efficacy of Long-term Treatment With VX-661 in Combination With Ivacaftor in Subjects Aged 12 Years and Older With Cystic Fibrosis, Homozygous or Heterozygous for the F508del-CFTR Mutation Vertex (VX14-661-110)

Fibrosi Cistica Novartis Farma X X CTBM100C2401 Studio a Tobi X 2014 Multicentrico singolo braccio, in aperto, Podahaler multicentrico, di fase IV per valutare la sicurezza a lungo termine della tobramicina in polvere per inalazione (TIP) in pazienti affetti da Fibrosi Cistica.

Fibrosi Cistica Aptalis X X Randomised, Double-Blind, Pancreatic X 2014 Multicentrico Active-Controlled, Two- Enzyme Treatment, Crossover, Multinational, Multicentre Study to Compare Two Pancreatic Enzyme Products in the Treatment of Exocrine Pancreatic Insufficiency in Subjects With Cystic Fibrosis PR005

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Fibrosi Cistica X X Studio clinico pilota di Cysteamina + X 2015 Monocentrico ricerca sperimentale di fase EGCG II, per valutare il recupero funzionale della proteina CFTR attraverso l’uso di regolatori della proteostasi.

Fibrosi Cistica NovaBiotics X X A study of the dosing, Cysteamine X Multicentrico efficacy, and safety of Oral Cysteamine in adult patient with Cystic Fibrosis Exacerbations (CARE-CF1)

Fibrosi Cistica AIFA X X FARM 7K7XZB Inhaled Glutathione X 2014 Monocentrico glutathione (GSH) versus Placebo in Cystic Fibrosis

Fibrosi Cistica Pharmaxis Limited X X DPM-CF-303 "A safety and mannitol X 2017 Multicentrico efficacy trial of inhaled mannitol in adult Cystic Fibrosis Subjects"

Fibrosi Cistica Pharmaxis Limited X X DPM-CF 204 "Crossover trial mannitol X 2014 Multicentrico determining the efficacy of dry powder mannitol to improve lung function in subjects aged 6-17 years"

Fibrosi Cistica Novartis Farma X X CTBM100C2409 Tobi X 2015 Multicentrico

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Fibrosi Cistica Chiesi farmaceutici X X Studio osservazionale Bramitob X Multicentrico prospettico a lungo termine Centro sulla sicurezza e tollerabilità Coordinatore Parma di Bramitob somministrato due volte al giorno per tre cicli di 28 giorni on/28 giorni off, in pazienti con fibrosi cistica aventi funzionalità polmonare severamente compromessa”.

Fibrosi Cistica Impactt X X PsAer-IgY: "Efficacy study of Avian X 2016 Multicentrico IgY (Antibody Against polyclonal Pseudomonas) in Cystic anti- Fibrosis Patients (PsAer-IgY) Pseudomonas antibodies (IgY) Fibrosi Cistica PTC Therapeutics X X PTC124-GD-023-CF "Study of PTC 124 X Multicentrico Ataluren in Cystic Fibrosis"

Fibrosi Cistica PTC Therapeutics X X A phase 3 efficacy and safety PTC 124 X 2016 Multicentrico study of Ataluren (PTC124®) in patients with nonsense mutation cystic fibrosis (Protocol Number PTC124-GD- 021-CF)

176

Fibrosi Cistica PTC Therapeutics X X A PHASE 3 EXTENSION PTC 124 X 2017 Multicentrico STUDY OF ATALUREN (PTC124) IN PATIENTS WITH NONSENSE MUTATION CYSTIC FIBROSIS (PTC124- GD-021e-CF)A PHASE 3 EXTENSION STUDY OF ATALUREN (PTC124) IN

Fibrosi Cistica Celtaxsys X X A Phase 2, Multicenter, CTX-4430 X Multicentrico Randomized, Double-blind, Placebo-controlled, Parallel- group Study to Evaluate the Efficacy, Safety, and Tolerability of CTX-4430 Administered Orally Once- Daily for 48 Weeks in Adult Patients with Cystic Fibrosis (CTX-4430-CF-201)

Fibrosi Cistica Fondazione Fibrosi X X FFC #30/2015 "Studio X Multicentrico Cistica randomizzato multicentrico Firenze Centro sull'eradicazione di Coordinatore Pseudomonas aeruginosa in pazienti con fibrosi cistica: confronto tra il trattamento eradicante classico e il trattamento classico associato con la terapia antibiotica delle alte vie respiratorie"

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Malattie rare in età pediatrica: Ricerca, farmaci orfani e reti europee di riferimento

Malattie respiratorie infantili A cura della Società Italiana per le Malattie Respiratorie Infantili – SIMRI (Presidente: Renato Cutrera)

Francesca Santamaria

178

Pubblicazioni, Trial clinici farmacologici, e Partecipazione Nazionale a ERN

Francesca Santamaria Rappresentante dell’Health Care Provider AOU Federico II di Napoli per l’ERN Lung

Relativamente all’attività in tema di pubblicazioni e trial clinici nel settore La “European Reference Network on lung diseases” (ERN Lung), coordinata delle malattie polmonari rare, i dati inseriti nel database sono stati ottenuti dal Prof. Thomas Wagner, Università di Francoforte, comprende nove Core attraverso una ricerca sulla piattaforma PubMed, inserendo quali parole Networks: chiave i nominativi delle varie patologie rare polmonari (siano esse inserite 1. Pneumopatie Interstiziali e non nell’elenco delle malattie rare fornito dal Ministero della Salute 2. Fibrosi Cistica italiano) and Italy and children and/or adolescents, e selezionando le 3. Discinesia Ciliare Primitiva pubblicazioni inerenti con primo/ultimo nome o corresponding author un 4. Ipertensione Polmonare autore afferente ad un centro italiano. La ricerca è stata chiusa al 28 giugno 5. Bronchiettasie Non- Fibrosi Cistica 2017. 6. Deficit di alfa1-antitripsina Gli inserimenti nel database sono distribuiti nelle seguenti categorie: 7. Mesotelioma • Congenital lung malformations 8. Disfunzione cronica da rigetto polmonare • Interstitial Lung Disease 9. Altre malattie polmonari rare • Primary ciliary dyskinesia Da segnalare che alcune patologie possono essere incluse anche in ERN • Airways cancer differenti, ad esempio quello delle malattie epatiche (RARE-LIVER) per il • Congenital Chronic Hypoventilation Syndrome difetto di alfa1-antitripsina e quello dei tumori solidi (EURACAN) per il • Non- Cystic Fibrosis bronchiectasis mesotelioma. Le malattie polmonari rare pediatriche rientrano nella • Lung transplant maggior parte dei Core Networks (Pneumopatie Interstiziali; Fibrosi Considerando le singole patologie, le pubblicazioni più numerose sono state Cistica; Discinesia Ciliare; Ipertensione Polmonare; Altre Malattie osservate nell’ambito della discinesia ciliare primitiva, seguite dalla Polmonari Rare), ma non in tutti. produzione nell’ambito delle pneumopatie interstiziali e delle malformazioni polmonari congenite. Per quanto concerne la qualità delle Il Core Network “Altre malattie polmonari rare” è di particolare pubblicazioni, il range dell’impact factor è 0,7-13. interesse per l’età pediatrica in quanto include un gruppo eterogeneo Solo una minoranza delle pubblicazioni incluse nel database sono il risultato di disordini non altrimenti classificati, e cioè: di lavori cooperativi sia italiani che internazionali. a) Malformazioni polmonari congenite: è un vasto spettro di condizioni Pochi sono i trial clinici nel settore delle malattie polmonari rare in età la cui incidenza è stimata tra 1: 8,000 e 1: 35,000 nati vivi, spesso pediatrica, di questi uno solo riguarda un farmaco “orfano”, mentre un trial identificate con indagini prenatali (Eco e/o Risonanza) la cui elevata in corso in due diversi centri italiani è relativo ad un farmaco non “orfano”, sensibilità potrebbe farne aumentare l’incidenza fino a 1: 3,000; ma il cui uso non è ancora codificato. b) Disordini del drive respiratorio: caratterizzati da Ipoventilazione Congenita Centrale sindrome di Ondine 179

sindrome di Haddad ruolo di leader in registri inerenti alla specifica categoria e di poter offrire sindrome ROHHAD (Rapid onset Obesity with Hypothalamic Dysfunction and una serie di facilities diagnostiche ed assistenziali. Autonomic Dysregulation) In Italia, i centri che afferiscono al momento alla rete ERN Lung sono: malformazione di Chiari ed altri difetti strutturali del cervelletto; Torino (AOU S. Luigi), Milano (Fondazione IRCCS MultiMedica S. Giuseppe), c) Lesioni granulomatose e cistiche in corso di disordini genetici: Pavia (Fondazione IRCCS S. Matteo), Trieste (Ospedali Riuniti), Padova (AO), sindrome di Birt-Hogg-Dubé (mutazioni del gene della follicolina e Verona (AOU), Bologna (AOU), Modena (AOU), Forlì (Osp. Morgagni- coinvolgimento di polmone e cute) Pierantoni), Pisa (AOU), Firenze (Ospedale Meyer), Roma (Ospedale altri disordini, tra cui istiocitosi polmonare di Langerhans, Pediatrico Bambino Gesù), Napoli (AOU Federico II), Catania (AOU linfangioleiomiomatosi, sindrome di Marfan, Policlinico V. Emanuele). neurofibromatosi 1, sindrome di Ehlers–Danlos; d) Tumori primitivi del polmone: comprende un vasto spettro di tipi Nei vari core networks sono stati identificati una serie di compiti, tra cui: istologici tra cui 7. Trials Clinici e Ricerca amartomi 8. Problemi di natura etica tumori miofibroblastici infiammatori 9. Registri e biobanche blastomi pleuropolmonari. 10. Prognosi e qualità di vita 11. Linee guida e Best Practice di assistenza Per aderire alla rete, i centri hanno dovuto certificare di seguire un minimo 12. Training ed educazione. di pazienti in una o più categoria, di avere una produzione scientifica e/o un

180

Pubblicazioni

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Non- Cystic Patria MF, Longhi B, Lelii M, Children with recurrent pneumonia Ital J Pediatr;42:13. 2016 1.614 Fibrosis Tagliabue C, Lavelli M, Galeone C, and non-cystic fibrosis bronchiectasis Bronchiectasis Principi N, Esposito S

Idiopathic Castellazzi L, Patria MF, Frati G, Idiopathic pulmonary haemosiderosis Ital J Pediatr;42(1):86. 2016 1.614 Pulmonary Esposito AA, Esposito S in paediatric patients: how to make an Haemosiderosis early diagnosis

Interstitial Lung Lelii M, Patria MF, PinzaniR, Persistent tachypnoea and intercostal IJERPH 2017, 2.101 Disease Tenconi R, Mori A, Bonelli N, retractions in a child: a case in International Journal of Esposito S report of neuroendocrine cell press Environmental research hyperplasia and Public Health

Oesophageal Patria MF, Ghislanzoni Respiratory morbidity in children with BMC Pulmonary Medicine 2017, 2.435 atresia with S; Macchini F; Lelii M; Mori A; repaired congenital oesophageal in fistula Leva E; Principi N, Esposito S atresia with or without press tracheoesophageal fistula Primary Ciliary Piatti G, De Santi MM, Torretta S, Cilia and Ear Ann Otol Rhinol 2017 Dyskinesia Pignataro L, Soi D, Ambrosetti U. Laryngol.126(4):322-327.

Primary Ciliary Piatti G, De Santi MM, Brogi M, Emerging Am J Otolaryngol. 2014 Dyskinesia Castorina P, Ambrosetti U. ciliopathies: are respiratory cilia 35(3):340-6. compromised in Usher syndrome?

181

Interstitial lung Carrera P, Ferrari M, Presi S, Null ABCA3 in humans: Large Pediatr Pulmonol. 2014 2.8 disease Ventura L, Vergani B, Lucchini V, homozygous ABCA3 deletion, 49(3):E116-20. Cogo P, Carnielli V, Somaschini M, correlation to clinical-pathological Tagliabue P findings Interstitial Lung Campo I, Zorzetto M, Mariani F, A large kindred of pulmonary fibrosis Respir Res. 15;15:43. 2014 3.841 Disease Kadija Z, Morbini P, Dore R, associated with a novel ABCA3 gene Kaltenborn E, Frixel S, Zarbock R, variant. Liebisch G, Hegermann J, Wrede C, Griese M, Luisetti M. Congenital Biffi E, Piazza C, Cavalleri M, An assistive device for outpatients Ann Biomed Eng. 2014 Central Taddeo P, Carcano A, Morandi F, during sleep. 42(10):2106-16. Hypoventilation Reni G. Syndrome Lung transplant Boffini M, Venuta F, Rea F, Parisi Urgent lung transplant programme in Interact Cardiovasc Thorac 2014 1,11 Francesco, Marinelli G, Nanni Italy: analysis of the first 14 months Surg. 19(5):795-800; Costa A, Rinaldi M discussion 800. Congenital Lung Casagrande A, Pederiva F. Association between Congenital Lung J Thorac Oncol. 2016 Malformations Malformations and Lung Tumors in 11(11):1837-1845. Children and Adults: A Systematic Review Interstitial Lung Luca Bertelli Prevalence, Risk Factors, and Pediatric Allergy, 2017 0,9 Disease Salvatore Cazzato Outcomes of Bronchiolitis Obliterans Immunology, and Tamara Belotti After Allogeneic Hematopoietic Stem Pulmonology Arcangelo Prete Cell Transplantation Giampaolo Ricci Andrea Pession Interstitial Lung Ravaglia C, Tomassetti S, Gurioli Features and outcome of familial Sarcoidosis Vasc 2014 Disease C, Piciucchi S, Dubini A, Gurioli C, idiopathic pulmonary fibrosis. Diffuse Lung Dis. 31(1):28- Casoni GL, Romagnoli M, Carloni 36 A, Tantalocco P, Buccioli M, Chilosi M, Poletti V.

182

Idiopathic Potalivo A, Finessi L, Facondini F, Severe Respiratory Distress in a Child Case Rep 2015 Pulmonary Lupo A, Andreoni C, Giuliani G, with Pulmonary Idiopathic Pulmonol.;2015:876904. Haemosiderosis Cavicchi C. Hemosiderosis Initially Presenting with Iron-Deficiency Anemia Primary Ciliary Boaretto F, Snijders D, Salvoro C, Diagnosis J Mol Diagn;18(6):912-922 2016 4.245 Casi di Dyskinesia Spalletta A, Mostacciuolo ML, of Primary Ciliary Dyskinesia by a Padova, Collura M, Cazzato S, Girosi D, Targeted Next-Generation Sequencing Genova, Silvestri M, Rossi GA, Barbato A, Panel: Molecular and Clinical Findings Bologna e Vazza G in Italian Patients. Palermo

Non- Cystic Snijders D, Fernandez Dominguez Mucociliary clearance techniques for Int J Immunopathol 2015 1.470 Fibrosis B, Calgaro S, Bertozzi I, Escribano treating non-cystic fibrosis Pharmacol.;28(2):150-9. bronchiectasis Montaner A, Perilongo G, Barbato bronchiectasis: Is there evidence? A

Primary Ciliary Snijders D, Bertozzi I, Barbato A. Nasal NO, high-speed video Pediatr Res. 76(3):321. 2014 2.761 Dyskinesia microscopy, electron microscopy, and

genetics: a primary ciliary dyskinesia puzzle to complete.

Interstitial Lung Simonato M, Maritussio A, Surfactant protein C metabolism in Anal Bioanal Chem. 2014 3,58 Disease Pioselli B, Carnielli VP, Cogo P human infants and adult patients by 406(25):6225-33. stable isotope tracer and mass spectrometry

183

Primary Ciliary Olcese C, Patel MP, Shoemark A, X-linked primary ciliary dyskinesia due Nat Commun. 8:14279. 2017 12 Dyskinesia Kiviluoto S, Legendre M, Williams to mutations in the cytoplasmic HJ, Vaughan CK, Hayward J, axonemal dynein assembly factor Goldenberg A, Emes RD, Munye PIH1D3. MM, Dyer L, Cahill T, Bevillard J,Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B,Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group, Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM.

Airways cancer Antonescu CR, Suurmeijer AJ, Molecular characterization of Am J Surg 2015 Zhang L, Sung YS, Jungbluth AA, inflammatory myofibroblastic tumors Pathol.;39(7):957-67 Travis WD, Al-Ahmadie H, with frequent ALK and ROS1 gene Fletcher CD, Alaggio R. fusions and rare novel RET rearrangement.

Airways cancer Varela P, Pio L, Torre M. Primary tracheobronchial tumors in Semin Pediatr Surg. 2016 children. 25(3):150-5.

Airways cancer Sacco O, Moscatelli A, Conte M, Long-Term Extracorporeal Membrane Pediatr Blood Cancer. 2016 Grasso C, Magnano GM, Sementa Oxygenation as Bridging Strategies to 63(5):941-3. AR, Martelli A, Rossi GA. Lung Transplantation in Rapidly Devastating Isolated Langerhans Cell Histiocytosis

184

Congenital Lung Sacco O, Moscatelli A, Nozza P, Respiratory Distress in a 3-Month-Old J Pediatr. 182:397-397 2017 Malformations Rossi GA. Infant with a Mass Obstructing the Right Main-Stem Bronchus: An Unusual

Localization of Infantile Hemangioma

Congenital Lung Sacco O, Santoro F, Ribera E, Short-length ligamentum arteriosum as Pediatr Pulmonol. 2016 2.8 Malformations Magnano GM, Rossi GA. a cause of congenital narrowing of the 51(12):1356-1361. left main stem bronchus

Congenital Lung Ghezzi M, Silvestri M, Sacco O, Mild tracheal compression by aberrant Pediatr Pulmonol. 2016 2.8 Malformations Panigada S, Girosi D, Magnano innominate artery and chronic dry 51(3):286-94. GM, Rossi GA cough in children.

Congenital Lung Mattioli G, Pio L, Disma NM, Congenital Lung Malformations: Pediatr Neonatol. 2016 Malformations Torre M, Sacco O, Pistorio A, Shifting from Open to Thoracoscopic 57(6):463-466 Zanaboni C, Montobbio G, Barra Surgery.

F, Ramenghi LA.

Congenital Paddeu EM, Giganti F, Piumelli R, Sleeping problems in mothers and Sleep Breath. 19(3):1057- 2015 Central De Masi S, Filippi L, Viggiano MP, fathers of patients suffering from 64. hypoventilation Donzelli G. congenital central hypoventilation syndrome syndrome.

Primary Ciliary Pifferi M, Bush A, Caramella D, Matrix metalloproteinases and airway Respir Med. 2017 3.217 Dyskinesia Metelli MR, Di Cicco M, Piras M, remodeling and function in primary 124: 49-56 Gherarducci G, Capristo C, Maggi ciliary dyskinesia. F, Peroni D, Boner AL. Primary Ciliary Lai M, Pifferi M, Bush A, Piras M, Gene editing of DNAH11 restores J Med Genet. 53(4): 242-9 2016 5.451 I primi due Dyskinesia Michelucci A, Di Cicco M, del normal cilia motility in primary ciliary autori hanno Grosso A, Quaranta P, Cursi C, dyskinesia. contribuito Tantillo E, Franceschi S, Mazzanti ugualmente al MC, Simi P, Saggese G, Boner A, lavoro. Pistello M.

185

Primary Ciliary Pifferi M, Bush A, Michelucci A, Di Mannose-binding lectin 2 gene Pediatr Pulmonol 2015 2.8 Dyskinesia Cicco M, Piras M, Caramella D, polymorphism and lung damage in 50(2): 179-86 Mazzei F, Neri M, Pioggia G, primary ciliary dyskinesia. Tartarisco G, Saggese G, Simi P, Boner AL Congenital Rossetti E, Bianchi R, Paglietti Severe phenotype of Minerva Anestesiol. 2014 Central MG, Cutrera R, Picardo S. rapid-onset obesity, hypoventilation, 80(6):744-5. hypoventilation hypothalamic dysfunction, and syndrome autonomic dysfunction syndrome Interstitial Lung Paolini A, Baldassarre A, Del Structural features of the ATP-binding Int J Mol Sci. 16(8):19631- 2015 2,86 Disease Gaudio I, Masotti A cassette (ABC) transporter ABCA3 44. Interstitial Lung Salerno T, Peca D, Menchini L, Surfactant Protein C-associated Ital J Pediatr.42:23. 2016 1.614 Disease Schiavino A, Boldrini R, Esposito F, interstitial lung disease; three Danhaive O, Cutrera R. different phenotypes of the same SFTPC mutation. Interstitial Lung Peca D, Boldrini R, Johannson J, Clinical and ultrastructural spectrum of Eur J Hum Genet. 2015 4,35 Disease Shieh JT, Citti A, Petrini S, Salerno diffuse lung disease associated with 23(8):1033-41. T, Cazzato S, Testa R, Messina F, surfactant protein C mutations Onofri A, Cenacchi G, Westermark P, Ullmann N, Cogo P, Cutrera R, Danhaive O Interstitial Lung Peca D, Cutrera R, Masotti A, ABCA3, a key player in neonatal Biochem Soc Trans. 2015 3,19 Disease Boldrini R, Danhaive O respiratory transition and genetic 43(5):913-9. disorders of the surfactant system Interstitial Lung Piersigilli F, Peca D, Campi F, New ATP-binding cassette A3 mutation Pediatr Int. 57(5):970-4. 2015 0,73 Disease Corsello M, Landolfo F, Boldrini R, causing surfactant metabolism Danhaive O, Dotta A dysfunction pulmonary type 3 Primary Ciliary Mirra V, Werner C, Santamaria F. Primary Ciliary Dyskinesia: An Update Front Pediatr. Jun 9;5:135. 2017 Dyskinesia on Clinical Aspects, Genetics,

Diagnosis, and Future Treatment Strategies.

186

Congenital Lung Borgia F, Santamaria F, Mollica C, Clinical benefits, echocardiographic Int J Cardiol, 240, 165-171 2017 6.189 Malformations Mongiello F, Esposito F, Palma G, and MRI assessment after pulmonary Botta L, Montella S, Trimarco B, sequestration treatment Rapacciuolo A

Primary Ciliary Maglione M*, Montella S*, Lung structure and function similarities Ital J Pediatr, 43, 34 2017 1.614 Dyskinesia Mollica C, Carnovale V, Iacotucci between primary ciliary dyskinesia and P, De Gregorio F, Tosco A, mild cystic fibrosis: a pilot study Cervasio M, Raia V, Santamaria F

Oesophageal Mirra V, Maglione M, Di Micco LL, Longitudinal Follow-up of Chronic Pediatr Neonatol, 58, 8-15 2017 1.287 atresia with Montella S, Santamaria F Pulmonary Manifestations in fistula Esophageal Atresia: A Clinical Algorithm and Review of the Literature

Interstitial Lung Montella S, Vece TJ, Langston C, A disorder of surfactant metabolism Ital J Pediatr, 41, 93 2015 1.614 Disease Carrera P, Nogee LM, Hamvas A, without identified genetic mutations Manna A, Cervasio M, Santamaria F

Primary Ciliary Mirra V, Caffarelli C, Maglione M, Hypovitaminosis D: a novel finding in Ital J Pediatr, 41, 14 2015 1.614 Dyskinesia Valentino R, Perruolo G, primary ciliary dyskinesia Mazzarella C, Di Micco LL, Montella S, Santamaria F

Primary Ciliary Maglione M, Montella S, Mirra V, Long-term assessment of quality of life Chest, 146, e232-e233 2014 6.044 Dyskinesia Bruzzese D, Santamaria F in primary ciliary dyskinesia: time for new tools?

Primary Ciliary Manna A, Montella S, Maniscalco Clinical application of nasal nitric oxide Pediatr Pulmonol, 50, 85- 2015 2.8 Dyskinesia M, Maglione M, Santamaria F measurement in pediatric airway 99 diseases

Primary Ciliary Montuschi P, Paris D, Montella S, Nuclear magnetic resonance-based Am J Respir Crit Care Med, 2014 13 Dyskinesia Melck D, Mirra V, Santini G, metabolomics discriminates primary 190, 229-33

187

Mores N, Montemitro E, Majo F, ciliary dyskinesia from cystic fibrosis Lucidi V, Bush A, Motta A, Santamaria F

Primary Ciliary Santamaria F, Esposito M, Sleep disordered breathing and airway Respirology, 19, 570-5 2014 3.256 Dyskinesia Montella S, Cantone E, Mollica C, disease in primary ciliary dyskinesia De Stefano S, Mirra V, Carotenuto M

Primary Ciliary Maglione M, Bush A, Nielsen KG, Multicenter analysis of body mass Pediatr Pulmonol, 49, 2014 2.8 Dyskinesia Hogg C, Montella S, Marthin JK, Di index, lung function, and sputum 1243-50 Giorgio A, Santamaria F microbiology in primary ciliary dyskinesia

188

Trial clinici farmacologici 1 2 3 4 5 6 7 8 Partners Ruolo Durata Nome malattia rara Sponsor Denominazione del trial Farmaco Note I N C P C T (anno) Discinesia Ciliare Parion A Phase II Randomized, VX-371 X Università Pisa Primaria (PCD) Sciences X X Double-blind, Placebo- controlled, Incomplete Block Crossover Study to evaluate the safety and efficacy of VX-371 Solution for Inhalation in subjects with Primary Ciliary Dyskinesia Interstitial Lung Disease x x Hydroxychloroquine in ILD Hydroxychloroquine C Università Padova

Interstitial Lung Disease x x European Management C Università Platform for Padova Childhood Interstitial Lung Diseases - chILD-EU Register and Biobank (chILD-EU)

Interstitial Lung Disease x x Hydroxychloroquine in ILD Hydroxychloroquine C Osp Bambino Gesù, Roma

189

Malattie rare in età pediatrica: Ricerca, farmaci orfani e reti europee di riferimento

Malattie endocrinologiche pediatriche A cura della Società Italiana di Endocrinologia e Diabetologia Pediatrica – SIEDP (Presidente: Franco Cerutti)

Antonio Balsamo Marco Cappa Graziano Grugni

190

Pubblicazioni e trial clinici farmacologici Malattie endocrinologiche pediatriche

1Graziano Grugni, 2Marco Cappa, 3Antonio Balsamo 1Divisione di AuxologiaIRCCS Ospedale S. Giuseppe Istituto Auxologico ItalianoPiancavallo di Oggebbio (VB) 2Head of Endocrinology and Diabetic Unit Bambino Gesù Children's Hospital, IRCCS Rome 3 AOU Sant’Orsola Malpighi, Department of Medical and Surgical Sciences; Pediatric Unit - Endocrinology Program, Bologna

Si stima che circa 1/3 delle malattie rare del bambino e FORmazione MAlattie raRE). Questo specifico interesse viene dell’adolescente siano seguite presso i Centri con pediatri soci della confermato dai dati relativi alle pubblicazioni, ai trial clinici Società Italiana di Endocrinologia e Diabetologia Pediatrica (SIEDP), farmacologici ed alla partecipazione ad Endo-ERN. sia perché di stretta pertinenza endocrinologica e diabetologica, sia Pubblicazioni e Trial clinici farmacologici. Il censimento delle per le complicanze di questa natura a carico di altri quadri patologici. pubblicazioni dei Soci sulle malattie rare è stato effettuato attraverso A partire da queste premesse, la SIEDP ha avviato tra la fine del 2015 la ricerca su PubMed, relativamente al periodo gennaio 2014 – ed i primi mesi del 2016 un’indagine conoscitiva preliminare, giugno 2017, considerando quelle in cui il coordinatore del lavoro attraverso il coinvolgimento dei Referenti dei Centri afferenti al risulta appartenente ad un’istituzione italiana. Si tratta Network italiano di Endocrinologia e Diabetologia Pediatrica, mirata a complessivamente di 380 lavori, di cui 128 sono del 2014, 124 del conoscere il numero di pazienti con malattia rara ivi osservati, così da 2015, 97 del 2016 e 31 del 2017, con una produzione media di 108 poter classificare quelle più comunemente seguite. Tra gli oltre 9000 all’anno. Da una prima analisi dei dati emerge che la metà degli pazienti censiti, le principali patologie rilevate sono state, in ordine articoli è frutto della collaborazione di due o più gruppi di studio. Le decrescente di numero, l’Ipotiroidismo congenito permanente, riviste su cui sono comparsi i lavori sono in tutto 150, di cui le prime l’Ipopituitarismo, la Pubertà precoce, la Sindrome adreno-genitale, la quattro per numero di pubblicazioni sono: Hormone Research in Sindrome di Turner, le Obesità genetiche, la Disormogenesi tiroidea, Paediatrics (n. 29; IF attuale: 1.661), Italian Journal of Pediatrics (n. il MODY e la Sindrome di Noonan. Su queste basi la nostra Società si 23; IF attuale: 1.614), Journal of Clinical Endocrinology and è attivata per la stesura dei PDTA delle malattie rare e/o croniche di Metabolism (n. 18; IF attuale: 5.531) e American Journal of Medical propria pertinenza, attraverso la costituzione di un apposito Gruppo Genetics (n. 18; IF attuale: 2,082). L’IF totale è 966.1, con una media di Lavoro, con lo scopo di produrre documenti validati su scala di 2.549 per pubblicazione, mentre il numero maggiore di lavori è nazionale anziché parcellizzata in molteplici approcci localistici. Ha comparso su riviste con un IF compreso tra 0.1 e 5 (n. 296). In inoltre elaborato un piano formativo sull’argomento per i nostri Soci, relazione ai Trial clinici farmacologici, quelli finora pervenuti hanno e non solo, mirato ad organizzare Corsi residenziali ed eventi FAD riguardato il deficit di ormone di crescita e la sindrome di Prader- sull’argomento specifico delle malattie rare (Progetto FOR.MA.RE: Willi. 191

Pubblicazioni

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Chromosomal disorder Baldassarre G, Mussa A, Phenotypic variability associated with Am J Med Genet A 2014 2,159 Banaudi E, Rossi C, Tartaglia the invariant SHOC2 c.4A>G 164A(12):3120-5. M, Silengo M, Ferrero GB. (p.Ser2Gly) missense mutation. RASopathies Alfieri P, Piccini G, Caciolo C, Behavioral profile in RASopathies. Am J Med Genet A 2014 2,159 Perrino F, Gambardella ML, 164A(4):934-42. Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S. Holt-Oram syndrome Baban A, Pitto L, Pulignani S, Holt-Oram syndrome with Am J Med Genet A 2014 2,159 Cresci M, Mariani L, intermediate atrioventricular canal 164A(6):1419-24. Gambacciani C, Digilio MC, defect, and aortic coarctation: Pongiglione G, Albanese S. functional characterization of a de novo TBX5 mutation. Rubinstein-Taybi Marzuillo P, Grandone A, Brain magnetic resonance in the Am J Med Genet A 2014 2,159 syndrome Luongo C, Cantelmi G, Polito routine management of Rubinstein- 164A(8):2129-32. C, del Giudice EM, Perrone L. Taybi syndrome (RTS) can prevent life-threatening events and neurological deficits.

Septo-optic dysplasia. Severino M, Allegri AE, Midbrain-hindbrain involvement in Am J Neuroradiol 2014 3,124 Pistorio A, Roviglione B, Di septo-optic dysplasia. 35(8):1586-92. Iorgi N, Maghnie M, Rossi A. Prader-Willi syndrome Bedogni G, Grugni G, Tringali Assessment of fat-free mass from Ann Hum Biol26:1-5. 2014 1,273 G, Agosti F, Sartorio A. bioelectrical impedance analysis in obese women with Prader-Willi syndrome.

192

Chromosomal disorder Stagi S, Lapi E, Seminara S, Long-term auxological and BMC Endocr Disord 14:3. 2014 1,710 Guarducci S, Pantaleo M, endocrinological evaluation of Giglio S, Chiarelli F, de patients with 9p trisomy: a focus on Martino M. the growth hormone-insulin-like growth factor-I axis.

Precocious puberty Lucaccioni L, Schwahn BC, Central precocious puberty in a BMC Endocr Disord 14:38. 2014 1,710 Donaldson M, Giacomozzi C. 3 year-old girl with Phenylketonuria: a rare association? Congenital Vincenzi M, Camilot M, Identification of a novel pax8 gene BMC Endocr Disord 14:69. 2014 1,710 hypothyroidism Ferrarini E, Teofoli F, Venturi sequence variant in four members of G, Gaudino R, Cavarzere P, De the same family: from congenital Marco G, Agretti P, Dimida A, hypothyroidism with thyroid Tonacchera M, Boner A, hypoplasia to mild subclinical Antoniazzi F. hypothyroidism. 22q11.2 deletion Cirillo E, Giardino G, Gallo V, Intergenerational and intrafamilial BMC Med Genet 15:1. 2014 2,083 syndrome Puliafito P, Azzari C, phenotypic variability in 22q11.2 Bacchetta R, Cardinale F, deletion syndrome subjects. Cicalese MP, Consolini R, Martino S, Martire B, Molinatto C, Plebani A, Scarano G, Soresina A, Cancrini C, Rossi P, Digilio MC, Pignata C. Noonan syndrome Lepri FR, Scavelli R, Digilio Diagnosis of Noonan syndrome and BMC Med Genet 15:14. 2014 2,083 MC, Gnazzo M, Grotta S, related disorders using target next Dentici ML, Pisaneschi E, generation sequencing. Sirleto P, Capolino R, Baban A, Russo S, Franchin T, Angioni A, Dallapiccola B. 1p36 deletion Stagi S, Lapi E, Pantaleo M, Type II diabetes and impaired glucose BMC Med Genet 15:16. 2014 2,083 syndrome Chiarelli F, Seminara S, de tolerance due to severe hyperinsulinism Martino M. in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.

193

Williams-Beuren Stagi S, Lapi E, D'Avanzo MG, Coeliac disease and risk for other BMC Med Genet 15:61. 2014 2,083 syndrome Perferi G, Romano S, Giglio S, autoimmune diseases in patients Ricci S, Azzari C, Chiarelli F, with Williams-Beuren syndrome. Seminara S, de Martino M. SHOX disorder Gatta V, Palka C, Chiavaroli V, Spectrum of phenotypic anomalies in BMC Med Genet 15:87. 2014 2,083 Franchi S, Cannataro G, four families with deletion of the Savastano M, Cotroneo AR, SHOX enhancer region. Chiarelli F, Mohn A, Stuppia L. Wolfram syndrome Mozzillo E, Delvecchio M, A novel CISD2 intragenic deletion, BMC Med Genet 15:88. 2014 2,083 Carella M, Grandone E, optic neuropathy and platelet Palumbo P, Salina A, Aloi C, aggregation defect in Wolfram Buono P, Izzo A, D'Annunzio syndrome type 2. G, Vecchione G, Orrico A, Genesio R, Simonelli F, Franzese A. 4A syndrome Aragona P, Rania L, 4A syndrome: ocular surface BMC Ophthalmol 14:155. 2014 1,020 Roszkowska AM, Puzzolo D, investigation in an Italian young Micali A, Pisani A, Salzano G, patient. Messina MF. Autoimmune Improda N, Capalbo D, Cirillo Cutaneous vasculitis in patients with BMC Pediatr 14:272. 2014 1,930 polyendocrine E, Cerbone M, Esposito A, autoimmune polyendocrine syndrome Pignata C, Salerno M. syndrome type 1: report of a case and brief review of the literature.

Allan-Herndon-Dudley Azzolini S, Nosadini M, Delayed myelination is not a constant Brain Dev 36(8):716-20. 2014 1,542 syndrome Balzarin M, Sartori S, Suppiej feature of Allan-Herndon-Dudley A, Mardari R, Greggio NA, syndrome: report of a new case and Toldo I. review of the literature.

Disorder of sexual Balsamo A, Baronio F, Berra Comment on "complete androgen Case Rep Obstet Gynecol 2014 0,000 development M, Bertelloni S, D'Alberton F, insensitivity syndrome: optimizing 2014:285715. Marrocco G, Vallasciani S. diagnosis and management".

194

Kasabach-merritt Nakib G, Calcaterra V, Chemotherapy and surgical approach Case Rep Oncol 7(1):23-8. 2014 0,000 syndrome Quaretti P, Moramarco LP, with repeated endovascular Bonalumi G, Brunero M, embolizations: safe interdisciplinary Pelizzo G. treatment for kasabach-merritt syndrome in a small baby.

Stuve-Wiedemann Buonuomo PS, Macchiaiolo Long-term follow-up in Stuve- Clin Dysmorphol 23(2):45- 2014 0,608 syndrome M, Cambiaso P, Rana I, Digilio Wiedemann syndrome: a case report 6. MC, Bartuli A. with articular involvement. GH deficiency Capalbo D, Mattace Raso G, Cluster of cardiometabolic risk Clin Endocrinol (Oxf) 2014 3,457 Esposito A, Di Mase R, factors in children with GH 80(6):856-62. Barbieri F, Meli R, Bruzzese D, deficiency: a prospective, case- Salerno M. control study. Prader-Willi syndrome Rigamonti AE, Bini S, Grugni Unexpectedly increased anorexigenic Clin Endocrinol (Oxf) 2014 3,457 G, Agosti F, De Col A, Mallone postprandial responses of PYY and 81(4):542-50. M, Cella SG, Sartorio A. GLP-1 to fast ice cream consumption in adult patients with Prader-Willi syndrome. Congenital Maiorana A, Barbetti F, Focal congenital hyperinsulinism Clin Endocrinol (Oxf) 2014 3,457 hyperinsulinism Boiani A, Rufini V, Pizzoferro managed by medical treatment: a 81(5):679-88. M, Francalanci P, Faletra F, diagnostic algorithm based on Nichols CG, Grimaldi C, de molecular genetic screening. Ville de Goyet J, Rahier J, Henquin JC, Dionisi-Vici C. Adrenal disorders Dalla Costa M, Bonanni G, Gonadal function in males with Clin Exp Immunol 2014 3,037 Masiero S, Faggian D, Chen S, autoimmune Addison's disease and 176(3):373-9. Furmaniak J, Rees Smith B, autoantibodies to steroidogenic Perniola R, Radetti G, Garelli enzymes. S, Chiarelli S, Albergoni MP, Plebani M, Betterle C. Haematologic Rolla R, Castagno M, Neonatal screening for sickle cell Clin Lab 60(12):2089-93. 2014 1,129 disorders, general Zaffaroni M, Grigollo B, disease and other Colombo S, Piccotti S, Dellora hemoglobinopathies in "the changing C, Bona G, Bellomo G. Europe".

195

Prader-Willi syndrome Cimolin V, Galli M, Rigoldi C, The fractal dimension approach in Comput Methods Biomech 2014 1,793 Grugni G, Vismara L, de Souza posture: a comparison between Biomed Engin 17(14):1535- SA, Mainardi L, Albertini G, Down and Prader-Willi syndrome 41. Capodaglio P. patients. Diabetes mellitus Bonura C, Frontino G, Necrobiosis Lipoidica Diabeticorum: Dermatoendocrinol 2014 0,000 Rigamonti A, Battaglino R, A pediatric case report. 6(1):e27790. Favalli V, Ferro G, Rubino C, Del Barba P, Pesapane F, Nazzaro G, Gianotti R, Bonfanti R, Meschi F, Chiumello G. MODY Delvecchio M, Ludovico O, Low prevalence of HNF1A mutations Diabetes Care 37(12):e258- 2014 8,420 Menzaghi C, Di Paola R, after molecular screening of multiple 60. Zelante L, Marucci A, Grasso MODY genes in 58 Italian families V, Trischitta V, Carella M, recruited in the pediatric or adult Barbetti F, Gallo F, Coccioli diabetes clinic from a single Italian MS, Zecchino C, Faienza MF, hospital. Cardinale G, Franzese A, Mozzillo E, Iafusco D, Zanfardino A. Prader-Willi syndrome Fintini D, Grugni G, Brufani C, Use of GLP-1 receptor agonists in Diabetes Care 37(4):e76-7. 2014 8,420 Bocchini S, Cappa M, Crinò A. Prader-Willi Syndrome: report of six cases. Neonatal diabetes Iafusco D, Salardi S, Chiari G, No sign of proliferative retinopathy in Diabetes Care 37(8):e181- 2014 8,420 mellitus Toni S, Rabbone I, Pesavento 15 patients with permanent neonatal 2. R, Pasquino B, de Benedictis diabetes with a median diabetes A, Maltoni G, Colombo C, duration of 24 years. Russo L, Massa O, Sudano M, Cadario F, Porta M, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED)

196

Neonatal diabetes Passanisi S, Timpanaro T, Lo Treatment of transient neonatal Diabetes Technol Ther 2014 2,106 mellitus Presti D, Mammì C, Caruso- diabetes mellitus: insulin pump or 16(12):880-4. Nicoletti M. insulin glargine? Our experience. Disorder of sexual Laino L, Majore S, Preziosi N, Disorders of sex development: a Endocr Connect 3(4):180- 2014 0,000 development Grammatico B, De Bernardo genetic study of patients in a 92. C, Scommegna S, Rapone AM, multidisciplinary clinic. Marrocco G, Bottillo I, Grammatico P. Rare diseases (review) Polizzi A, Balsamo A, Bal MO, Rare diseases research and practice. Endocr Dev 27:234-56. 2014 4,022 Taruscio D. Adrenal disorders Guaraldi F, Parasiliti-Caprino Identification of risk conditions for Endocrine 47(3):734-9. 2014 1,997 M, Goggi R, Beccuti G, the development of adrenal Grottoli S, Arvat E, Ghizzoni L, disorders: how optimized PubMed Ghigo E, Giordano R, Gori D. search strategies makes the difference. GH deficiency Babu D, Mellone S, Fusco I, Novel mutations in the GH gene Endocrinology 2014 6,209 Petri A, Walker GE, Bellone S, (GH1) uncover putative splicing 155(5):1786-92. Prodam F, Momigliano- regulatory elements. Richiardi P, Bona G, Giordano M. Chromosomal disorder Surace C, Berardinelli F, Telomere shortening and telomere Epigenetics Chromatin 2014 5,333 Masotti A, Roberti MC, Da position effect in mild ring 17 7(1):1. Sacco L, D'Elia G, Sirleto P, syndrome. Digilio MC, Cusmai R, Grotta S, Petrocchi S, El Hachem M, Pisaneschi E, Ciocca L, Russo S, Lepri FR, Sgura A, Angioni A. Ehlers-Danlos Verrotti A, Spartà MV, Monacelli Long-term prognosis of patients with Epilepsia 55(8):1213-9. 2014 4,571 syndrome D, Porto R, Castagnino M, Russo Ehlers-Danlos syndrome and Raucci A, Compagno F, Viglio S, epilepsy. Foiadelli T, Nicita F, Grosso S, Spalice A, Chiarelli F, Marseglia G, Savasta S.

197

Congenital adrenal Menabò S, Polat S, Baldazzi L, Congenital adrenal hyperplasia due Eur J Hum Genet 22:610-6. 2014 4,225 hyperplasia Kulle AE, Holterhus PM, to 11-beta-hydroxylase deficiency: Grötzinger J, Fanelli F, functional consequences of four Balsamo A, Riepe FG. CYP11B1 mutations.

Anderson-Fabry Concolino D, Degennaro E, Delphi consensus on the current Eur J Intern Med 2014 2,891 disease Parini R; Fabry Delphi working clinical and therapeutic knowledge 25(8):751-6. group; Fabry Delphi working on Anderson-Fabry disease. group. Chromosomal disorder Ansari M, Rainger JK, Murray A syndromic form of Pierre Robin Eur J Med Genet 2014 1,466 JE, Hanson I, Firth HV, sequence is caused by 5q23 deletions 57(10):587-95. Mehendale F, Amiel J, Gordon encompassing FBN2 and PHAX. CT, Percesepe A, Mazzanti L, Fryer A, Ferrari P, Devriendt K, Temple IK, FitzPatrick DR. Brain-Lung-Thyroid de Filippis T, Marelli F, Vigone Novel NKX2-1 Frameshift Mutations Eur Thyroid J 3(4):227-33. 2014 0,000 Syndrome MC, Di Frenna M, Weber G, in Patients with Atypical Phenotypes Persani L. of the Brain-Lung-Thyroid Syndrome. Complex phenotype Macchiaroli A, Kelberman D, A novel heterozygous SOX2 mutation Gene 534(2):282-5. 2014 2,082 Auriemma RS, Drury S, Islam causing congenital bilateral L, Giangiobbe S, Ironi G, anophthalmia, hypogonadotropic Lench N, Sowden JC, Colao A, hypogonadism and growth hormone Pivonello R, Cavallo L, Gasperi deficiency. M, Faienza MF. GH deficiency Deodati A, Ferroli Association between growth Growth Horm IGF Res 2014 1,330 BB, Cianfarani S. hormone therapy and mortality, 24:105-11. cancer and cardiovascular risk: systematic review and meta-analysis.

GH deficiency De Marco S, Marcovecchio Circulating asymmetric Growth Horm IGF Res 2014 1,330 ML, Caniglia D, De Leonibus dimethylarginine and lipid profile in 24:216-20. C, Chiarelli F, Mohn A. pre-pubertal children with growth hormone deficiency: effect of 12- month growth hormone replacement therapy.

198

GH deficiency Meazza C, Elsedfy HH, Pagani Metabolic parameters and adipokine Horm Metab Res 46:219- 2014 1,573 S, Bozzola E, El Kholy profile in growth hormone deficient 23. M, Bozzola M. (GHD) children before and after 12- month GH treatment.

Congenital adrenal Massimi A, Malaponti M, Functional and structural analysis of Horm Metab Res 46:515- 2014 1,573 hyperplasia Federici L, Vinciguerra D, four novel mutations of CYP21A2 20. Manca Bitti ML, Vottero A, gene in Italian patients with 21- Ghizzoni L, Maccarrone hydroxylase deficiency. M, Cappa M, Bernardini S, Porzio O Disorder of sexual Bertelloni S, Dati E, Baldinotti NR5A1 gene mutations: clinical, Horm Res Paediatr 81:104- 2014 1,573 development F, Toschi B, Marrocco G, Sessa endocrine and genetic features in 8. MR, Michelucci A, Simi P, two girls with 46,XY disorder of sex Baroncelli GI. development.

Neoplasia Guaraldi F, Storr HL, Ghizzoni Paediatric pituitary adenomas: a Horm Res Paediatr 81:145- 2014 1,573 L, Ghigo E, Savage MO. decade of change. 55. Prader-Willi syndrome Di Giorgio G, Grugni G, Fintini Growth hormone response to Horm Res Paediatr 81:189- 2014 1,573 D, Bocchini S, Spera S, Cuttini standard provocative stimuli and 95. M, Cappa M, Crinò A. combined tests in very young children with Prader-Willi syndrome.

Turner syndrome Valenzise M, Aversa T, Epidemiology, presentation and long- Horm Res Paediatr 81:245- 2014 1,573 Corrias A, Mazzanti L, Cappa term evolution of Graves' disease in 50. M, Ubertini G, Scarano E, children, adolescents and young Mussa A, Messina MF, De adults with Turner syndrome. Luca F, Wasniewska M. GH deficiency Bozzola M, Pagani S, Iughetti Adherence to growth hormone Horm Res Paediatr 81:331- 2014 1,573 L, Maffeis C, Bozzola E, therapy: a practical approach. 5. Meazza C. Congenital Peroni E, Vigone MC, Mora S, Congenital hypothyroidism Horm Res Paediatr 81:50- 2014 1,573 hypothyroidism Bassi LA, Pozzi C, Passoni A, treatment in infants: a comparative 4. Weber G. study between liquid and tablet formulations of levothyroxine.

199

GH deficiency Grandone A, Miraglia del Clinical features of a new acid-labile Horm Res Paediatr 81:67- 2014 1,573 Giudice E, Cirillo G, subunit (IGFALS) heterozygous 72. Abbondanza C, Cioffi M, mutation: anthropometric and Romano T, Micillo F, biochemical characterization and Marzuillo P, Perrone L. response to growth hormone administration. Autoimmune Valenzise M, Fierabracci A, Autoimmune polyendocrinopathy- Horm Res Paediatr 82:127- 2014 1,573 polyendocrine Cappa M, Porcelli P, candidiasis-ectodermal dystrophy: 32. syndrome Barcellona R, De Luca F, report of seven additional sicilian Barollo S, Garelli S, Betterle C. patients and overview of the overall series from sicily. GH deficiency Cianfarani S. Is high-dose growth hormone Horm Res Paediatr 82:143- 2014 1,573 treatment during puberty 4. Worthwhile? Williams-Beuren Stagi S, Lapi E, Cecchi C, Williams-beuren syndrome is a Horm Res Paediatr 82:38- 2014 1,573 syndrome Chiarelli F, D'Avanzo MG, genetic disorder associated with 43. Seminara S, de Martino M. impaired glucose tolerance and diabetes in childhood and adolescence: new insights from a longitudinal study. GH deficiency Zucchini S, Iafusco D, Vannelli Combined therapy with insulin and Horm Res Paediatr 82:53- 2014 1,573 S, Rabbone I, Salzano G, growth hormone in 17 patients with 8. Pozzobon G, Maghnie M, type-1 diabetes and growth Cherubini V, Bizzarri C, disorders. Bonfanti R, D'Annunzio G, Lenzi L, Maggio MC, Marigliano M, Scaramuzza A, Tumini S, Iughetti L. Turner syndrome Vierucci F, Del Pistoia M, Erba Usefulness of phalangeal quantitative Hormones (Athens) 2014 1,237 P, Federico G, Saggese G. ultrasound in identifying reduced 13:353-60. bone mineral status and increased fracture risk in adolescents with Turner syndrome.

200

GH deficiency Stagi S, Pucci N, di Grande L, Increased prevalence of growth Hormones (Athens) 2014 1,237 de Libero C, Caputo R, hormone deficiency in patients with 13:382-8. Pantano S, Seminara S, de vernal keratoconjuntivitis; an Martino M, Novembre E. interesting new association.

Complex phenotype Stagi S, Lapi E, Pantaleo M, A SOX3 (Xq26.3-27.3) duplication in a Hormones (Athens) 2014 1,237 Traficante G, Giglio S, boy with growth hormone deficiency, 13:552-60. Seminara S, de Martino M. ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review.

Thyroid abnormalities Stagi S, Manoni C, Cirello V, Diabetes mellitus in a girl with Hormones (Athens) 2014 1,237 Covelli D, Giglio S, Chiarelli F, thyroid hormone resistance 13:561-7. Seminara S, de Martino M. syndrome: a little recognized interaction between the two diseases. Chromosomal disorder Magini P, Pippucci T, Tsai IC, A mutation in PAK3 with a dual Hum Mol Genet 23:3607- 2014 6,393 Coppola S, Stellacci E, molecular effect deregulates the 17. Bartoletti-Stella A, Turchetti RAS/MAPK pathway and drives an X- D, Graziano C, Cenacchi G, linked syndromic phenotype. Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M.

201

Kabuki syndrome Micale L, Augello B, Maffeo C, Molecular analysis, pathogenic Hum Mutat 35:841-50. 2014 5,144 Selicorni A, Zucchetti F, Fusco mechanisms, and readthrough C, De Nittis P, Pellico MT, therapy on a large cohort of Kabuki Mandriani B, Fischetto R, syndrome patients. Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G. Turner syndrome Castronovo C, Rossetti R, Gene dosage as a relevant Hum Reprod 29:368-79. 2014 4,585 Rusconi D, Recalcati MP, mechanism contributing to the Cacciatore C, Beccaria E, determination of ovarian function in Calcaterra V, Invernizzi P, Turner syndrome. Larizza D, Finelli P, Persani L. Ataxia teleangiectasia Ehlayel M, Soliman A, De Linear growth and endocrine Indian J Endocrinol Metab 2014 0,000 Sanctis V. function in children with ataxia 18(Suppl 1):S93-6. telangiectasia. Vernal Stagi S, Pucci N, Di Grande L, Increased incidence of thyroid Int J Endocrinol 2014 1,948 keratoconjunctivitis de Libero C, Caputo R, dysfunction and autoimmunity in 2014:804870. Pantano S, Mattei I, Mori F, patients with vernal de Martino M, Novembre E. keratoconjunctivitis. Cleidocranial dysplasia Faienza MF, Ventura A, Osteoclastogenic potential of Int J Med Sci 11:356-64. 2014 2,003 Piacente L, Ciccarelli M, peripheral blood mononuclear cells Gigante M, Gesualdo L, in cleidocranial dysplasia. Colucci S, Cavallo L, Grano M, Brunetti G.

202

Cystic fibrosis Smerieri A, Montanini L, FOXO1 content is reduced in cystic Int J Mol Sci 15:18000-22. 2014 2,862 Maiuri L, Bernasconi S, Street fibrosis and increases with IGF-I ME. treatment. Complex phenotype Stagi S, Bertini F, Rigante D, Vitamin D levels and effects of Int J Pediatr 2014 1,186 Falcini F. vitamin D replacement in children Otorhinolaryngol 78:964-8. with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Disorder of sexual Dehghani M, Rossi E, Vetro A, A newborn with ambiguous genitalia Iran J Reprod Med 12:351- 2014 0,188 development Russo G, Hashemian Z, and a complex X;Y rearrangement. 356. Zuffardi O. Kabuki syndrome Giordano P, Lassandro G, Autoimmune haematological Ital J Pediatr 40:10. 2014 1,523 Sangerardi M, Faienza MF, disorders in two Italian children with Valente F, Martire B. Kabuki syndrome. Turner syndrome Stagi S, Losi S, Chiarelli F, de Kawasaki disease in a girl with Turner Ital J Pediatr 40:24. 2014 1,523 Martino M, Falcini F. syndrome: a remarkable association. Congenital disorders Melis D, Della Casa R, Balivo Involvement of endocrine system in a Ital J Pediatr 40:30. 2014 1,523 of glycosylation F, Minopoli G, Rossi A, patient affected by glycogen storage Salerno M, Andria G, Parenti disease 1b: speculation on the role of G. autoimmunity.

Chromosomal disorder Rapini N, Lidano R, De novo 13q13.3-21.31 deletion Ital J Pediatr 40:5. 2014 1,523 Pietrosanti S, Vitiello G, involving RB1 gene in a patient with Grimaldi C, Postorivo D, hemangioendothelioma of the liver. Nardone AM, Del Bufalo F, Brancati F, Manca Bitti ML. GH deficiency Esposito A, Tufano M, Di Effect of long-term GH treatment in a Ital J Pediatr 40:51. 2014 1,523 Donato I, Rezzuto M, Improda patient with CHARGE association. N, Melis D, Salerno M. Bone diseases Stagi S, Cavalli L, Seminara S, The ever-expanding conundrum of Ital J Pediatr 40:55. 2014 1,523 de Martino M, Brandi ML. primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.

203

Diabetes mellitus Delvecchio M, Di Paola R, Clinical heterogeneity of abnormal Ital J Pediatr 40:58. 2014 1,523 Mangiacotti D, Sacco M, glucose homeostasis associated with Menzaghi C, Trischitta V. the HNF4A R311H mutation. Adrenal disorders Stagi S, Del Greco P, Ricci F, Hydrocortisone malabsorption due to Ital J Pediatr 40:78. 2014 1,523 Iurato C, Poggi G, Seminara S, polyethylene glycols (Macrogol 3350) de Martino M. in a girl with congenital adrenal insufficiency. Haematologic Notarangelo LD, Savoldi G, Severe congenital neutropenia due to Ital J Pediatr 40:80. 2014 1,523 disorders, general Cavagnini S, Bennato V, Vasile G6PC3 deficiency: early and delayed S, Pilotta A, Plebani A, Porta phenotype in two patients with two F. novel mutations.

Sulfatase deficiency Garavelli L, Santoro L, Iori A, Multiple sulfatase deficiency with Ital J Pediatr 40:86. 2014 1,523 Gargano G, Braibanti S, neonatal manifestation. Pedori S, Melli N, Frattini D, Zampini L, Galeazzi T, Padella L, Pepe S, Wischmeijer A, Rosato S, Ivanovski I, Iughetti L, Gelmini C, Bernasconi S, Superti-Furga A, Ballabio A, Gabrielli O. Muscular dystrophy Trovato R, Astrea G, Elevated serum creatine kinase and J Child Neurol 29:394-398. 2014 1,666 Bartalena L, Ghirri P, Baldacci small cerebellum prompt diagnosis of J, Giampietri M, Battini R, congenital muscular dystrophy due Santorelli FM, Fiorillo C. to FKRP mutations.

Diabetes insipidus Di Iorgi N, Allegri AE, Napoli Central diabetes insipidus in children J Clin Endocrinol Metab 2014 6,209 F, Calcagno A, Calandra E, and young adults: etiological 99:1264-72. Fratangeli N, Vannati M, Rossi diagnosis and long-term outcome of A, Bagnasco F, Haupt R, idiopathic cases. Maghnie M. Prader-Willi syndrome Lafortuna CL, Minocci A, Skeletal muscle characteristics and J Clin Endocrinol Metab 2014 6,209 Capodaglio P, Gondoni LA, motor performance after 2-year 99:1816-24. Sartorio A, Vismara L, Rizzo G, growth hormone treatment in adults Grugni G. with prader-willi syndrome.

204

Precocious puberty Bizzarri C, Spadoni GL, The response to gonadotropin J Clin Endocrinol Metab 2014 6,209 Bottaro G, Montanari G, releasing hormone (GnRH) 99:433-9. Giannone G, Cappa M, stimulation test does not predict the Cianfarani S. progression to true precocious puberty in girls with onset of premature thelarche in the first three years of life. Precocious puberty Pedicelli S, Alessio P, Scirè G, Routine screening by brain magnetic J Clin Endocrinol Metab 2014 6,209 Cappa M, Cianfarani S. resonance imaging is not indicated in 99:4455-61. every girl with onset of puberty between the ages of 6 and 8 years.

Hypogonadism Libri DV, Kleinau G, Vezzoli V, Germline prokineticin receptor 2 J Clin Endocrinol Metab 2014 6,209 Busnelli M, Guizzardi F, Sinisi (PROKR2) variants associated with 99:458-63. AA, Pincelli AI, Mancini A, central hypogonadism cause Russo G, Beck-Peccoz P, differental modulation of distinct Loche S, Crivellaro C, Maghnie intracellular pathways. M, Krausz C, Persani L, Bonomi M; Italian Study Group on Idiopathic Central Hypogonadism (ICH). Pseudohypoparathyroi Elli FM, de Sanctis L, Bollati V, Quantitative analysis of methylation J Clin Endocrinol Metab 2014 6,209 dism Tarantini L, Filopanti M, defects and correlation with clinical 99:508-17. Barbieri AM, Peverelli E, Beck- characteristics in patients with Peccoz P, Spada A, Mantovani pseudohypoparathyroidism type I G. and GNAS epigenetic alterations.

Congenital Muzza M, Rabbiosi S, Vigone The clinical and molecular J Clin Endocrinol Metab 2014 6,209 hypothyroidism MC, Zamproni I, Cirello characterization of patients with 99:544-53. V, Maffini MA, Maruca dyshormonogenic congenital K, Schoenmakers N, Beccaria hypothyroidism reveals specific L, Gallo F, Park SM, Beck- diagnostic clues for DUOX2 defects. Peccoz P, Persani L, Weber G, Fugazzola L.

205

Pseudohypoparathyroi Elli FM, de Sanctis L, Peverelli Autosomal dominant J Clin Endocrinol Metab 2014 6,209 dism E, Bordogna P, Pivetta B, pseudohypoparathyroidism type Ib: a 99:724-28. Miolo G, Beck-Peccoz P, novel inherited deletion ablating Spada A, Mantovani G. STX16 causes loss of imprinting at the A/B DMR. Haematologic Marsili M, Lougaris V, Successful anti-TNF-α treatment in a J Clin Immunol 34:788-91. 2014 3,184 disorders, general Lucantoni M, Di Marzio D, girl with LAD-1 disease and Baronio M, Vitali M, Lombardi autoimmune manifestations. G, Chiarelli F, Breda L. GH deficiency Cavarzere P, Biban P, Diagnostic pitfalls in the assessment J Endocrinol Invest 2014 1,448 Gaudino R, Perlini S, Sartore of congenital hypopituitarism. 37:1201-9. L, Chini L, Silvagni D, Antoniazzi F. Kallmann syndrome Bonomi M, Cappa M, Kallmann's syndrome and normosmic J Endocrinol Invest 37:499- 2014 1,448 Cariboni A, Di Schiavi E, isolated hypogonadotropic 500. Fabbri A, Ferlin A, Foresta C, hypogonadism: two largely Ghizzoni L, Jannini E, Krausz overlapping manifestations of one C, Loche S, Lombardo F, rare disorder. Maggi M, Maggi R, Maghnie M, Mancini A, Merlo G, Panzica G, Radetti G, Russo G, Simoni M, Sinisi AA, Persani LNetwork for Central Hypogonadism (Network Ipogonadismo Centrale, NICe) of Italian Societies of Endocrinology (SIE), of Andrology and Sexual Medicine (SIAMS) and of Peadiatric Endocrinology and Diabetes (SIEDP).

206

GH deficiency Spandonaro F, Cappa M, The impact of real practice J Endocrinol Invest 37:979- 2014 1,448 Castello R, Chiarelli F, Ghigo inappropriateness and devices' 90. E, Mancusi L. inefficiency to variability in growth hormone consumption.

Prader-Willi syndrome Verrotti A, Cusmai R, Laino D, Long-term outcome of epilepsy in J Neurol 262:116-23. 2014 8,286 Carotenuto M, Esposito M, patients with Prader-Willi syndrome. Falsaperla R, Margari L, Rizzo R, Savasta S, Grosso S, Striano P, Belcastro V, Franzoni E, Curatolo P, Giordano L, Freri E, Matricardi S, Pruna D, Toldo I, Tozzi E, Lobefalo L, Operto F, Altobelli E, Chiarelli F, Spalice A. Graves disease Gastaldi R, Poggi E, Mussa A, Graves disease in children: thyroid- J Pediatr 164:1189-1194. 2014 3,790 Weber G, Vigone MC, Salerno stimulating hormone receptor M, Delvecchio M, Peroni E, antibodies as remission markers. Pistorio A, Corrias A. Congenital Vigone MC, Caiulo S, Di Evolution of thyroid function in J Pediatr 164:1296-302. 2014 3,790 hypothyroidism Frenna M, Ghirardello S, preterm infants detected by Corbetta C, Mosca F, Weber screening for congenital G. hypothyroidism. Chromosomal disorder Cancrini C, Puliafito P, Digilio Clinical features and follow-up in J Pediatr 164:1475-80.e2. 2014 3,790 MC, Soresina A, Martino S, patients with 22q11.2 deletion Rondelli R, Consolini R, Ruga EM, syndrome. Cardinale F, Finocchi A, Romiti ML, Martire B, Bacchetta R, Albano V, Carotti A, Specchia F, Montin D, Cirillo E, Cocchi G, Trizzino A, Bossi G, Milanesi O, Azzari C, Corsello G, Pignata C, Aiuti A, Pietrogrande MC, Marino B, Ugazio AG, Plebani A, Rossi P; Italian Network for Primary Immunodeficiencies.

207

VACTERL Carli D, Garagnani L, Lando VACTERL (vertebral defects, anal J Pediatr 164:458-62. 2014 3,736 M, Fairplay T, Bernasconi S, atresia, tracheoesophageal fistula Landi A, Percesepe A. with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement. Idiopatic intracranial Salpietro V, Mankad K, Kinali Pediatric idiopathic intracranial J Pediatr Endocrinol Metab 2014 0,995 hypertension M, Adams A, Valenzise M, hypertension and the underlying 27:107-15. Tortorella G, Gitto E, Polizzi A, endocrine-metabolic dysfunction: a Chirico V, Nicita F, David E, pilot study. Romeo AC, Squeri CA, Savasta S, Marseglia GL, Arrigo T, Johanson CE, Ruggieri M. Pseudohypoparathyroi Feyles F, Mussa A, Peiretti V, Iatrogenic acute pancreatitis due to J Pediatr Endocrinol Metab 2014 0,995 dism Tessaris D, Santanera A, hypercalcemia in a child with 27:149-52. Corrias A, de Sanctis L, Calvo pseudohypoparathyroidism. L. GH deficiency Pagani S, Petkovic V, Messini Heterozygous GHR gene mutation in J Pediatr Endocrinol Metab 2014 0,995 B, Meazza C, Bozzola E, Mullis a child with idiopathic short stature. 27:329-34. PE, Bozzola M. hypoparathyroidism Matarazzo P, Tuli G, Fiore L, Teriparatide (rhPTH) treatment in J Pediatr Endocrinol Metab 2014 0,995 Mussa A, Feyles F, Peiretti V, children with syndromic 27:53-9. Lala R. hypoparathyroidism. Thalassemia El Kholy M, Elsedfy H, Towards an optimization of the J Pediatr Endocrinol Metab 2014 0,995 Soliman A, Anastasi S, Raiola management of endocrine 27:801-5. G, De Sanctis V. complications of thalassemia. Diabetes insipidus Brugnara M, Gaudino R, Type III Bartter-like syndrome in an J Pediatr Endocrinol Metab 2014 0,995 Tedeschi S, Syrèn ML, infant boy with Gitelman syndrome 27:971-5. Perrotta S, Maines E, and autosomal dominant familial Zaffanello M. neurohypophyseal diabetes insipidus.

208

Bone diseases Stagi S, Bertini F, Cavalli L, Determinants of vitamin D levels in J Rheumatol 41:1884-92. 2014 3,187 Matucci-Cerinic M, Brandi children, adolescents, and young ML, Falcini F. adults with juvenile idiopathic arthritis. Congenital adrenal Lesma A, Bocciardi A, Corti S, Sexual function in adult life following J Urol 191:206-11. 2014 3,753 hyperplasia Chiumello G, Rigatti P, Passerini-Glazel feminizing Montorsi F. genitoplasty in patients with congenital adrenal hyperplasia.

Thalassemia Soliman A, Yassin M, Al Yafei Longitudinal Study on Liver Functions Mediterr J Hematol Infect 2014 0,000 F, Al-Naimi L, Almarri N, Sabt in Patients with Thalassemia Major Dis 6:e2014025. A, De Sanctis V. before and after Deferasirox (DFX) Therapy. Thalassemia De Sanctis V, Soliman AT, Insulin-like Growth Factor-1 (IGF-1): Mediterr J Hematol Infect 2014 0,000 Candini G, Yassin M, Raiola G, Demographic, Clinical and Laboratory Dis 6:e2014074. Galati MC, Elalaily R, Elsedfy Data in 120 Consecutive Adult H, Skordis N, Garofalo P, Patients with Thalassaemia Major. Anastasi S, Campisi S, Karimi M, Kattamis C, Canatan D, Kilinc Y, Sobti P, Fiscina B, El Kholy M. Turner syndrome Calcaterra V, Brambilla P, Metabolic syndrome in Turner Metab Syndr Relat Disord 2014 1,976 Maffè GC, Klersy C, Albertini syndrome and relation between body 12:159-64. R, Introzzi F, Bozzola E, composition and clinical, genetic, and Bozzola M, Larizza D. ultrasonographic characteristics.

Congenital adrenal Corica D, Santucci S, Pitrolo E, Testicular adrenal rest tumor in an Minerva Pediatr 66:233- 2014 0,532 hyperplasia Romeo M, Wasniewska M, De adolescent with congenital adrenal 235. Luca F. hyperplasia, resolved by therapy doses adjustment.

Chromosomal disorder Piovani G, Savio G, Traversa De novo 1Mb interstitial deletion of Mol Cytogenet 7:25. 2014 2,140 M, Pilotta A, De Petro G, 8p22 in a patient with slight mental Barlati S, Magri C. retardation and speech delay.

209

GH deficiency Vetro A, Pagani S, Silengo M, Severe growth hormone deficiency Mol Cytogenet 7:41. 2014 2,140 Severino M, Bozzola E, and pituitary malformation in a Meazza C, Zuffardi O, Bozzola patient with chromosome 2p25 M. duplication and 2q37 deletion.

Lysosomal disease Siri L, Rossi A, Lanza F, A novel homozygous splicing Neurogenetics 15:101-6. 2014 2,884 Mazzotti R, Costa A, mutation in PSAP gene causes Stroppiano M, Gaiero A, metachromatic leukodystrophy in Cohen A, Biancheri R, two Moroccan brothers. Filocamo M. Prader-Willi syndrome Bedogni G, Grugni G, Nobili V, Is non-alcoholic fatty liver disease Obes Facts 7:71-6. 2014 2,245 Agosti F, Saezza A, Sartorio A. less frequent among women with Prader-Willi syndrome? Dubowitz syndrome Lougaris V, Baronio M, Vitali Profound T-cell defects in Dubowitz Pediatr Allergy Immunol 2014 3,397 M, Gualdi G, Tampella G, syndrome. 25:511-3. Moratto D, Cattalini M, Pilotta A, Buzi F, Calzavara- Pinton P, Plebani A. Sandifer syndrome Cafarotti A, Bascietto C, A 6-month-old boy with Pediatr Ann 43:17-9. 2014 0,610 Salvatore R, Breda L, Chiarelli uncontrollable dystonic posture of F, Piernicola P. the neck. Sandifer syndrome. Immunodeficiency Guanà R, Garofano S, Teruzzi The complex surgical management of Pediatr Gastroenterol 2014 0,000 E, Vinardi S, Carbonaro G, the first case of severe combined Hepatol Nutr 17:257-62. Cerrina A, Morra I, Montin D, immunodeficiency and multiple Mussa A, Schleef J. intestinal atresias surviving after the fourth year of life.

GH deficiency Ramistella V, Wasniewska M, Cross-sectional and prospective study Pediatr Med Chir 36:104. 2014 0,000 Arasi S, Catena M, Velletri of the effects of GH therapy on MR, Corica D, Santucci S, De metabolic panel in children with GH Luca F. deficiency.

210

Beckwith-Wiedemann Mussa A, Pagliardini S, α-Fetoprotein assay on dried blood Pediatr Res 76:544-8. 2014 2,314 syndrome Pagliardini V, Molinatto C, spot for hepatoblastoma screening in Baldassarre G, Corrias A, children with overgrowth-cancer Silengo MC, Ferrero GB. predisposition syndromes.

GH deficiency Prodam F, Savastio S, Genoni Effects of growth hormone (GH) PLoS One 9:e87157. 2014 3,234 G, Babu D, Giordano M, therapy withdrawal on glucose Ricotti R, Aimaretti G, Bona G, metabolism in not confirmed GH Bellone S. deficient adolescents at final height.

Neoplasia Nakib G, Calcaterra V, Robotic-assisted surgery approach in Rare Tumors 6:5173. 2014 0,000 Goruppi I, Romano P, Raffaele a biliary rhabdomyosarcoma A, Schleef J, Pelizzo G. misdiagnosed as choledochal cyst. Prader-Willi syndrome Cimolin V, Vismara L, Galli Gait strategy in genetically obese Res Dev Disabil 35:1501-6. 2014 1,887 M, Grugni G, Cau N, patients: a 7-year follow up. Capodaglio P. Ehlers-Danlos Pasquini M, Celletti C, Unexpected association between Rheumatol Int 34:631-6. 2014 1,627 syndrome Berardelli I, Roselli V, joint hypermobility syndrome/Ehlers- Mastroeni S, Castori M, Danlos syndrome hypermobility type Biondi M, Camerota F. and obsessive-compulsive personality disorder.

Turner syndrome Aversa T, Lombardo F, Corrias In young patients with Turner or Thyroid 24:744-7. 2014 4,493 A, Salerno M, De Luca F, Down syndrome, Graves' disease Wasniewska M. presentation is often preceded by Hashimoto's thyroiditis.

Chromosomal disorder Valenzise M, Cascio A, Post vaccine acute disseminated Vaccine 32:5552-4. 2014 3,624 Wasniewska M, Zirilli G, encephalomyelitis as the first Catena MA, Arasi S. manifestation of chromosome 22q11.2 deletion syndrome in a 15- month old baby: a case report.

Wolfram syndrome Rondinelli M, Novara F, Wolfram syndrome 2: a novel CISD2 Acta Diabetol 52(1):175-8. 2015 3,074 Calcaterra V, Zuffardi O, mutation identified in Italian siblings. Genovese S.

211

Cystic fibrosis Franzese A, Mozzillo E, Screening of glucose metabolism Acta Diabetol 52(4):633-8. 2015 3,074 Fattorusso V, Raia V, Valerio derangements in pediatric cystic G. fibrosis patients: how, when, why. Atopic Leonardi S, Cuppari C, Manti Serum interleukin 17, interleukin 23, Allergy Asthma Proc 2015 3,061 eczema/dermatitis S, Filippelli M, Parisi GF, and interleukin 10 values in children 36(1):74-81. syndrome Borgia F, Briuglia S, Cannavò with atopic eczema/dermatitis P, Salpietro A, Arrigo T, syndrome (AEDS): association with Salpietro C. clinical severity and phenotype.

Keppen-Lubinsky Masotti A, Uva P, Davis- Keppen-Lubinsky syndrome is caused Am J Hum Genet 2015 10,931 syndrome Keppen L, Basel-Vanagaite L, by mutations in the inwardly 96(2):295-300. Cohen L, Pisaneschi E, Celluzzi rectifying K+ channel encoded by A, Bencivenga P, Fang M, Tian KCNJ6. M, Xu X, Cappa M, Dallapiccola B. Diabetes mellitus Prudente S, Jungtrakoon P, Loss-of-Function Mutations in APPL1 Am J Hum Genet 2015 10,931 Marucci A, Ludovico O, in Familial Diabetes Mellitus. 97(1):177-85. Buranasupkajorn P, Mazza T, Hastings T, Milano T, Morini E, Mercuri L, Bailetti D, Mendonca C, Alberico F, Basile G, Romani M, Miccinilli E, Pizzuti A, Carella M, Barbetti F, Pascarella S, Marchetti P, Trischitta V, Di Paola R, Doria A. Chromosomal disorder Salpietro V, Ruggieri M, A de novo 0.63 Mb 6q25.1 deletion Am J Med Genet A 2015 2,159 Mankad K, Di Rosa G, Granata associated with growth failure, 167(9):2042-51. F, Loddo I, Moschella E, congenital heart defect, Calabro MP, Capalbo A, underdeveloped cerebellar vermis, Bernardini L, Novelli A, Polizzi abnormal cutaneous elasticity and A, Seidler DG, Arrigo T, joint laxity. Briuglia S.

212

Prader-Willi syndrome Morandi A, Bonnefond A, A girl with incomplete Prader-Willi Am J Med Genet A 2015 2,159 Lobbens S, Carotenuto M, Del syndrome and negative MS-PCR, 167A(11):2720-6. Giudice EM, Froguel P, found to have mosaic maternal UPD- Maffeis C. 15 at SNP array.

RASopathies Tamburrino F, Gibertoni D, Response to long-term growth Am J Med Genet A 2015 2,159 Rossi C, Scarano E, Perri A, hormone therapy in patients affected 167A(11):2786-94. Montanari F, Fantini MP, by RAsopathies and growth hormone Pession A, Tartaglia M, deficiency: Patterns of growth, Mazzanti L. puberty and final height data.

Chromosomal disorder Palumbo O, Palumbo P, Microdeletion of 12q24.31: report of Am J Med Genet A 2015 2,159 Delvecchio M, Palladino T, a girl with intellectual disability, 167A(2):438-44. Stallone R, Crisetti M, Zelante stereotypies, seizures and facial L, Carella M. dysmorphisms. Chromosomal disorder Guida V, Sinibaldi L, Pagnoni A de novo proximal 3q29 Am J Med Genet A 2015 2,159 M, Bernardini L, Loddo S, chromosome microduplication in a 167A(4):797-801. Margiotti K, Digilio MC, Fadda patient with oculo auriculo vertebral MT, Dallapiccola B, Iannetti G, spectrum. Alessandro de L. Noonan syndrome-like Garavelli L, Cordeddu V, Noonan syndrome-like disorder with Am J Med Genet A 2015 2,159 disorder Errico S, Bertolini P, Street loose anagen hair: a second case with 167A(8):1902-7. ME, Rosato S, Pollazzon M, neuroblastoma. Wischmeijer A, Ivanovski I, Daniele P, Bacchini E, Lombardi AA, Izzi G, Biasucci G, Del Rossi C, Corradi D, Cazzaniga G, Dominici C, Rossi C, De Luca A, Bernasconi S, Riccardi R, Legius E, Tartaglia M. Costello syndrome Alfieri P, Caciolo C, Piccini G, Behavioral phenotype in Costello Am J Med Genet B 2015 3,416 D'Elia L, Valeri G, Menghini D, syndrome with atypical mutation: a Neuropsychiatr Genet Tartaglia M, Digilio MC, case report. 168B(1):66-71. Dallapiccola B, Vicari S.

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Kabuki syndrome Dentici ML, Di Pede A, Lepri Kabuki syndrome: clinical and Arch Dis Child 100(2):158- 2015 2,899 FR, Gnazzo M, Lombardi MH, molecular diagnosis in the first year 64. Auriti C, Petrocchi S, of life. Pisaneschi E, Bellacchio E, Capolino R, Braguglia A, Angioni A, Dotta A, Digilio MC, Dallapiccola B. Diabetes insipidus Di Iorgi N, Morana G, Napoli Management of diabetes insipidus Best Pract Res Clin 2015 4,602 F, Allegri AE, Rossi A, Maghnie and adipsia in the child. Endocrinol Metab M. 29(3):415-36. GH deficiency Stagi S, Traficante G, Lapi E, Agenesis of internal carotid artery BMC Endocr Disord 15:58. 2015 1,739 Pantaleo M, Becciani S, associated with isolated growth Mortilla M, Seminara S, de hormone deficiency: a case report Martino M. and literature review.

Precocious puberty Grandone A, Cantelmi G, A case of familial central precocious BMC Endocr Disord 15:60. 2015 1,739 Cirillo G, Marzuillo P, Luongo puberty caused by a novel mutation C, Miraglia del Giudice E, in the makorin RING finger protein 3 Perrone L. gene.

Chromosomal disorder Magri C, Marchina E, Bertini SNP array and FISH analysis of a proband BMC Med Genet 16:47. 2015 2,083 V, Traversa M, Savio G, Pilotta with a 22q13.2- 22qter duplication shed A, Piovani G. light on the molecular origin of the rearrangement.

214

GH deficiency Stagi S, Lapi E, Pantaleo M, A new case of de novo 6q24.2-q25.2 BMC Med Genet 16:69. 2015 2,083 Carella M, Petracca A, De deletion on paternal chromosome 6 Crescenzo A, Zelante L, Riccio with growth hormone deficiency: a A, de Martino M. twelve-year follow-up and literature review. Chromosomal disorder Giordano M, Gertosio C, A 5.8 Mb interstitial deletion on BMC Med Genet 16:74. 2015 2,083 Pagani S, Meazza C, Fusco I, chromosome Xq21.1 in a boy with Bozzola E, Bozzola M. intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.

CHARGE syndrome Pisaneschi E, Sirleto P, Lepri CHARGE syndrome due to deletion of BMC Med Genet 16:78. 2015 2,083 FR, Genovese S, Dentici ML, region upstream of CHD7 gene START Petrocchi S, Angioni A, Digilio codon. MC, Dallapiccola B. Kabuki syndrome Roma D, Palma P, Capolino R, Spinal ependymoma in a patient with BMC Med Genet 16:80. 2015 2,083 Figà-Talamanca L, Diomedi- Kabuki syndrome: a case report. Camassei F, Lepri FR, Digilio MC, Marras CE, Messina R, Carai A, Randi F, Mastronuzzi A. Cornelia de Lange Galderisi A, De Bernardo G, i-gel: a new supraglottic device for BMJ Case Rep Mar 25. 2015 0,000 syndrome Lorenzon E, Trevisanuto D. effective resuscitation of a very low birthweight infant with Cornelia de Lange syndrome.

Marfan syndrome Trifirò G, Marelli S, Viecca M, Areal bone mineral density in Bone 73:176-80. 2015 3,973 Mora S, Pini A. children and adolescents with Marfan syndrome: evidence of an evolving problem. Rickets Capelli S, Donghi V, Maruca K, Clinical and molecular heterogeneity Bone 79:143-9. 2015 3,973 Vezzoli G, Corbetta S, Brandi in a large series of patients with ML, Mora S, Weber G. hypophosphatemic rickets.

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Turner syndrome Faienza MF, Brunetti G, Mechanisms of enhanced Bone 81:228-236. 2015 3,973 Ventura A, Piacente L, osteoclastogenesis in girls and young Messina MF, De Luca F, women with Turner's Syndrome. Ciccarelli M, Oranger A, Mori G, Natale MP, Gigante M, Ranieri E, Gesualdo L, Colucci S, Cavallo L, Grano M. Thalassemia Chirico V, Lacquaniti A, Thalassaemia major and infectious Br J Haematol 171(1):130- 2015 5,401 Piraino B, Cutrupi M, Cuppari risk: High Mobility Group Box-1 6. C, Grasso L, Rigoli L, David A, represents a novel diagnostic and Arrigo T, Salpietro C. prognostic biomarker.

Turner syndrome Lucaccioni L, Wong SC, Smyth Turner syndrome--issues to consider Br Med Bull 113(1):45-58. 2015 2,921 A, Lyall H, Dominiczak A, for transition to adulthood. Ahmed SF, Mason A. Prader-Willi syndrome Longhi S, Grugni G, Gatti D, Adults with Prader-Willi syndrome Calcif Tissue Int 96(2):160- 2015 3,272 Spinozzi E, Sartorio A, Adami have weaker bones: effect of 6. S, Fanolla A, Radetti G. treatment with GH and sex steroids. Bone diseases Franceschi R, Vincenzi M, Idiopathic Juvenile Osteoporosis: Calcif Tissue Int 96(6):575- 2015 3,272 Camilot M, Antoniazzi F, Clinical Experience from a Single 9. Freemont AJ, Adams JE, Laine Centre and Screening of LRP5 and C, Makitie O, Mughal MZ. LRP6 Genes. Turner syndrome Cappella M, Graziani V, Hyperinsulinemic Hypoglycaemia in a Case Rep Pediatr 2015 0,000 Pragliola A, Sensi A, Hussain Turner Syndrome with Ring (X). 2015:561974. K, Muratori C, Marchetti F. Rubinstein-Taybi Tornese G, Marzuillo P, A case of Rubinstein-Taybi syndrome Clin Endocrinol (Oxf) 2015 3,457 syndrome Pellegrin MC, Germani C, associated with growth hormone 83(3):437-9. Faleschini E, Zennaro F, deficiency in childhood. Grandone A, Miraglia Del Giudice E, Perrone L, Ventura A. Pituitary lesions Di Iorgi N, Morana G, Pituitary stalk thickening on MRI: Clin Endocrinol (Oxf) 2015 3,457 Maghnie M. when is the best time to re-scan and 83(4):449-55. . how long should we continue re- scanning for? 216

GH deficiency De Rienzo F, Mellone S, Frequency of genetic defects in Clin Endocrinol (Oxf) 2015 3,457 Bellone S, Babu D, Fusco I, combined pituitary hormone 83(6):849-60. Prodam F, Petri A, deficiency: a systematic review and Muniswamy R, De Luca F, analysis of a multicentre Italian Salerno M, Momigliano- cohort. Richardi P, Bona G, Giordano M; Italian Study Group on Genetics of CPHD. X-linked ectodermal Guazzarotti L, Tadini G, Phenotypic heterogeneity and Clin Genet 87(4):338-42. 2015 3,892 dysplasia Mancini GE, Giglio S, mutational spectrum in a cohort of Willoughby CE, Callea M, Sani 45 Italian males subjects with X- I, Nannini P, Mameli C, linked ectodermal dysplasia. Tenconi AA, Mauri S, Bottero A, Caimi A, Morelli M, Zuccotti GV. Rubinstein-Taybi Spena S, Milani D, Rusconi D, Insights into genotype-phenotype Clin Genet 88(5):431-40. 2015 3,892 syndrome Negri G, Colapietro P, Elcioglu correlations from CREBBP point N, Bedeschi F, Pilotta A, mutation screening in a cohort of 46 Spaccini L, Ficcadenti A, Rubinstein-Taybi syndrome patients. Magnani C, Scarano G, Selicorni A, Larizza L, Gervasini C. Beckwith-Wiedemann Mussa A, Russo S, Larizza L, (Epi)genotype-phenotype Clin Genet. 2015 Jul 3. doi: 2015 3,892 syndrome Riccio A, Ferrero GB. correlations in Beckwith-Wiedemann 10.1111/cge.12635 syndrome: a paradigm for genomic medicine. Complex phenotype Verrotti A, Palka C, Prezioso Deletion 18p11.32p11.31 in a Child Cytogenet Genome Res 2015 1,561 G, Alfonsi M, Calabrese G, with Global Developmental Delay 146(2):115-9. Palka G, Chiarelli F. and Atypical, Drug-Resistant Absence Seizures.

MODY Maltoni G, Zucchini S, Martini Clinical heterogeneity in the same Diabetes Res Clin Pract 2015 2,538 AL, Marasco E, Mantovani V, generation of siblings with 107(1):e1-3. Pession A. GCK/MODY 2.

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Diabetes mellitus Mozzillo E, Salzano G, Survey on etiological diagnosis of Diabetes Res Clin Pract 2015 2,538 Barbetti F, Maffeis C, diabetes in 1244 Italian diabetic 107(3):e15-8. Lombardo F, Franzese A, children and adolescents: impact of Delvecchio M, Marigliano M. access to genetic testing.

Shwachman-Bodian- Terlizzi V, Zito E, Mozzillo E, Can continuous subcutaneous insulin Diabetes Technol Ther 2015 2,106 Diamond syndrome Raia V, Franzese A. infusion improve health-related 17(1):64-7. quality of life in patients with Shwachman-Bodian-Diamond syndrome and diabetes?

Congenital adrenal Delvecchio M, Soldano L, Evaluation of impact of steroid Endocrine 48(3):995-1000. 2015 3,280 hyperplasia Lonero A, Ventura A, replacement treatment on bone Giordano P, Cavallo L, Grano health in children with 21- M, Brunetti G, Faienza MF hydroxylase deficiency

Congenital Delvecchio M, Salerno M, Levothyroxine requirement in Endocrine 50(3):674-80. 2015 1,997 hypothyroidism Vigone MC, Wasniewska M, congenital hypothyroidism: a 12-year Popolo PP, Lapolla R, Mussa longitudinal study. A, Tronconi GM, D'Acunzo I, Di Mase R, Falcone RM, Corrias A, De Luca F, Weber G, Cavallo L, Faienza MF. Turner syndrome Aversa T, Messina MF, The association with Turner Endocrine 50(3):777-82. 2015 1,997 Mazzanti L, Salerno M, Mussa syndrome significantly affects the A, Faienza MF, Scarano E, De course of Hashimoto's thyroiditis in Luca F, Wasniewska M. children, irrespective of karyotype.

Wolfram syndrome Perrotta S, Di Iorgi N, Ragione Early-onset central diabetes insipidus Eur J Endocrinol 2015 4,069 FD, Scianguetta S, Borriello A, is associated with de novo arginine 172(4):461-72. Allegri AE, Ferraro M, Santoro vasopressin-neurophysin II or C, Napoli F, Calcagno A, Wolfram syndrome 1 gene Giaccardi M, Cappa M, mutations. Salerno MC, Cozzolino D, Maghnie M.

218

Thalassemia Chirico V, Rigoli L, Lacquaniti Endocrinopathies, metabolic Eur J Haematol 94:404-12. 2015 2,066 A, Salpietro V, Piraino B, disorders, and iron overload in major Amorini M, Salpietro C, Arrigo and intermedia thalassemia: serum T. ferritin as diagnostic and predictive marker associated with liver and cardiac T2* MRI assessment.

Disorder of sexual Vetro A, Dehghani MR, Testis development in the absence of Eur J Hum Genet 2015 4,349 development Kraoua L, Giorda R, Beri S, SRY: chromosomal rearrangements 23(8):1025-32. Cardarelli L, Merico M, at SOX9 and SOX3. Manolakos E, Parada- Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O. Neurofibromatosis Pinna V, Lanari V, Daniele P, p.Arg1809Cys substitution in Eur J Hum Genet 2015 4,349 Consoli F, Agolini E, Margiotti neurofibromin is associated with a 23(8):1068-71. . K, Bottillo I, Torrente I, distinctive NF1 phenotype without Bruselles A, Fusilli C, neurofibromas. Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio MC, Dallapiccola B, Clementi M, Tartaglia M, De Luca A. Precocious puberty Verrotti A, Penta L, Zenzeri L, True Precocious Puberty Following Front Pediatr 3:93. 2015 0,000 Lucchetti L, Giovenali P, De Treatment of a Leydig Cell Tumor: Feo P. Two Case Reports and Literature Review.

219

Prader-Willi syndrome Rigamonti AE, Grugni G, Unaltered ratio of circulating levels of Growth Horm IGF Res 2015 1,448 Marazzi N, Bini S, growth hormone/GH isoforms in 25:168-73. Bidlingmaier M, Sartorio A. adults with Prader-Willi syndrome after GHRH plus arginine administration. Congenital Bruno R, Aversa T, Catena M, Even in the era of congenital Hear Res 327:43-7. 2015 2,968 hypothyroidism Valenzise M, Lombardo F, De hypothyroidism screening mild and Luca F, Wasniewska M. subclinical sensorineural hearing loss remains a relatively common complication of severe congenital hypothyroidism.

Rett syndrome Stagi S, Cavalli L, Congiu L, Thyroid function in Rett syndrome. Horm Res Paediatr 83:118- 2015 1,661 Scusa MF, Ferlini A, Bigoni S, 25. Benincasa A, Rossi B, Pini G. Noonan syndrome Giacomozzi C, Deodati A, The impact of growth hormone Horm Res Paediatr 83:167- 2015 1,661 Shaikh MG, Ahmed SF, therapy on adult height in noonan 76. Cianfarani S. syndrome: a systematic review. Neurofibromatosis Bizzarri C, Bottaro G. Endocrine implications of Horm Res Paediatr 83:232- 2015 1,573 neurofibromatosis 1 in childhood. 41. Congenital Olivieri A, Fazzini C, Medda E; Multiple factors influencing the Horm Res Paediatr 83:86- 2015 1,661 hypothyroidism Italian Study Group for incidence of congenital 93. Congenital Hypothyroidism. hypothyroidism detected by neonatal screening. Congenital Messina MF, Aversa T, Early Discrimination between Horm Res Paediatr 84:159- 2015 1,661 hypothyroidism Salzano G, Zirilli G, Sferlazzas Transient and Permanent Congenital 64. C, De Luca F, Lombardo F. Hypothyroidism in Children with Eutopic Gland.

GH deficiency Pampanini V, Pedicelli S, Brain Magnetic Resonance Imaging Horm Res Paediatr 84:323- 2015 1,661 Gubinelli J, Scirè G, Cappa M, as First-Line Investigation for Growth 30. Boscherini B, Cianfarani S. Hormone Deficiency Diagnosis in Early Childhood.

220

Precocious puberty Bertelloni S, Massart F, Central Precocious Puberty: Adult Horm Res Paediatr 84:396- 2015 1,661 Einaudi S, Wasniewska M, Height in Girls Treated with Quarterly 400. Miccoli M, Baroncelli GI. or Monthly Gonadotropin-Releasing Hormone Analog Triptorelin.

Neurofibromatosis Bruzzi P, Sani I, Albanese A. Reversible Growth Hormone Excess Horm Res Paediatr 84:414- 2015 1,661 in Two Girls with Neurofibromatosis 22. Type 1 and Optic Pathway Glioma. Chromosomal disorder Bertelloni S, Dati E, Valetto A, Long-term growth hormone Hormones (Athens) 2015 1,198 Bertini V, Danti A, Baroncelli treatment in a boy with 14:142-7. GI. 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient. Congenital adrenal Minari R, Vottero A, Tassi F, A novel mutation in the NR0B1 gene Hormones (Athens) 2015 1,198 hyperplasia Viani I, Neri TM, Street ME, in a family with monozygotic twin 14:160-6. Ghizzoni L, Bernasconi S, sisters and congenital adrenal Martorana D. hypoplasia affected children.

Bone diseases Stagi S, Iurato C, Lapi E, Bone status in genetic syndromes: a Hormones (Athens) 14:19- 2015 1,198 Cavalli L, Brandi ML, de review. 31. Martino M. McCune-Albright Messina MF, Aversa T, de Adult height following a combined Hormones (Athens)14:286- 2015 1,198 syndrome Sanctis L, Wasniewska M, treatment of ketoconazole - 92. Valenzise M, Pajno GB, De cyproterone acetate - leuprolide Luca F, Lombardo F. depot in a boy with atypical McCune- Albright syndrome. Hypogonadism Vezzoli V, Duminuco P, A new variant in signal peptide of the Hum Mol Genet 24:6003- 2015 6,393 Vottero A, Kleinau G, Schülein human luteinizing hormone receptor 12. R, Minari R, Bassi I, (LHCGR) affects receptor biogenesis Bernasconi S, Persani L, causing leydig cell hypoplasia. Bonomi M.

221

Complex phenotype Zanni G, Kalscheuer VM, A Novel Mutation in RPL10 Hum Mutat 36:1155-8. 2015 5,144 Friedrich A, Barresi S, Alfieri (Ribosomal Protein L10) Causes X- P, Di Capua M, Haas SA, Linked Intellectual Disability, Piccini G, Karl T, Klauck SM, Cerebellar Hypoplasia, and Spondylo- Bellacchio E, Emma F, Cappa Epiphyseal Dysplasia. M, Bertini E, Breitenbach- Koller L. Morquio-A syndrome Caciotti A, Tonin R, Rigoldi M, Optimizing the molecular diagnosis of Hum Mutat 36:357-68. 2015 5,144 Ferri L, Catarzi S, Cavicchi C, GALNS: novel methods to define and Procopio E, Donati MA, characterize Morquio-A syndrome- Ficcadenti A, Fiumara A, associated mutations. Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A. Precocious puberty Beccuti G, Ghizzoni L. Normal and Abnormal Puberty. In: De Groot LJ, Beck- 2015 0,000 Peccoz P, Chrousos G, Dungan K, Grossman A, Hershman JM, Koch C, McLachlan R, New M, Rebar R, Singer F, Vinik A, Weickert MO, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000- 2015 Aug 8.

222

Thalassemia De Sanctis V, Soliman AT, The recommendation of the Indian J Endocrinol Metab 2015 0,000 Candini G, Elsedfy H. International Network of Clinicians 19:306-7. for Endocrinopathies in Thalassemia and Adolescent Medicine for the assessment of growth hormone secretion in thalassemia.

Myopathy Marseglia L, D'Angelo G, Sudden cardiac arrest in a child with Ital J Pediatr 41:20. . 2015 1,614 Manti S, Salpietro V, Arrigo T, nemaline myopathy. Cavallari V, Gitto E. Turner syndrome Aversa T, Lombardo F, Peculiarities of autoimmune thyroid Ital J Pediatr 41:39. 2015 1,614 Valenzise M, Messina MF, diseases in children with Turner or Sferlazzas C, Salzano G, De Down syndrome: an overview. Luca F, Wasniewska M. Chromosomal disorder Monti S, Nicoletti A, NKX2.1-Related Disorders: a novel Ital J Pediatr 41:45. 2015 1,614 Cantasano A, Krude H, Cassio mutation with mild clinical A. presentation. GH deficiency Bozzola M, Gertosio C, Gnoli Hereditary multiple exostoses and Ital J Pediatr 41:53. 2015 1,614 M, Baronio F, Pedrini E, solitary osteochondroma associated Meazza C, Sangiorgi L. with growth hormone deficiency: to treat or not to treat?

Noonan syndrome Zavras N, Meazza C, Pilotta A, Five-year response to growth Ital J Pediatr 41:71. 2015 1,614 Gertosio C, Pagani S, Tinelli C, hormone in children with Noonan Bozzola M. syndrome and growth hormone deficiency. Congenital Delvecchio M, Vigone MC, Final height in Italian patients with Ital J Pediatr 41:82. 2015 1,614 hypothyroidism Wasniewska M, Weber G, congenital hypothyroidism detected Lapolla R, Popolo PP, by neonatal screening: a 20-year Tronconi GM, Di Mase R, De observational study. Luca F, Cavallo L, Salerno M, Faienza MF.

223

Paget disease Rendina D, De Filippo G, Clinical characteristics and evolution J Bone Miner Res 30:257- 2015 6,832 Ralston SH, Merlotti D, of giant cell tumor occurring in 63. Gianfrancesco F, Esposito T, Paget's disease of bone. Muscariello R, Nuti R, Strazzullo P, Gennari L. Adrenal disorders Pizzolo F, Friso S, Morandini Apparent Mineralocorticoid Excess J Clin Endocrinol Metab 2015 5,531 F, Antoniazzi F, Zaltron C, by a Novel Mutation and Epigenetic 100:1234-41. Udali S, Gandini A, Cavarzere Modulation by HSD11B2 Promoter P, Salvagno G, Giorgetti A, Methylation. Speziali G, Choi SW, Olivieri O. Prader-Willi syndrome Marzullo P, Marcassa C, Long-term echocardiographic and J Clin Endocrinol Metab 2015 5,531 Minocci A, Campini R, Eleuteri cardioscintigraphic effects of growth 100:2106-14. E, Gondoni LA, Aimaretti G, hormone treatment in adults with Sartorio A, Scacchi M, Grugni Prader-Willi syndrome. G. Congenital adrenal Marra AM, Improda N, Cardiovascular abnormalities and J Clin Endocrinol Metab 2015 5,531 hyperplasia Capalbo D, Salzano A, impaired exercise performance in 100:644-52. Arcopinto M, De Paulis A, adolescents with congenital adrenal Alessio M, Lenzi A, Isidori AM, hyperplasia. Cittadini A, Salerno M. Pseudohypoparathyroi Garin I, Elli FM, Linglart A, Novel microdeletions affecting the J Clin Endocrinol Metab 2015 5,531 dism Silve C, de Sanctis L, GNAS locus in 100:681-87. Bordogna P, Pereda A, Clarke pseudohypoparathyroidism: JT, Kannengiesser C, Coutant characterization of the underlying R, Tenebaum-Rakover Y, mechanisms. Admoni O, de Nanclares GP, Mantovani G. Endocrine, general Guaraldi F, Grottoli S, Arvat E, Hypothalamic-Pituitary J Clin Med 4:1025-35. 2015 0,000 Ghigo E. Autoimmunity and Traumatic Brain Injury.

224

Cystic fibrosis Terlizzi V, Carnovale V, Clinical expression of patients with J Cyst Fibros 14:447-52. 2015 3,475 Castaldo G, Castellani C, Cirilli the D1152H CFTR mutation. N, Colombo C, Corti F, Cresta F, D'Adda A, Lucarelli M, Lucidi V, Macchiaroli A, Madarena E, Padoan R, Quattrucci S, Salvatore D, Zarrilli F, Raia V. Kallmann syndrome Trevisson E, Ludwig K, Casarin Ichthyosis and Kallmann syndrome: J Dermatol Sci 78:158-60. 2015 3,419 A, Di Meglio A, Greggio NA, not always a contiguous gene Manara R, Lenzini E, Clementi syndrome. M, Salviati L. Congenital Olivieri A, Radetti G, Medda Incidence of congenital hypothyroidism J Endocrinol Invest 38:185- 2015 1,994 hypothyroidism E; Italian Study Group for in the Autonomous Province of Bolzano: 7. benefit of increased iodine intake. Congenital Hypothyroidism. GH deficiency Aimaretti G, Attanasio R, Growth hormone treatment of J Endocrinol Invest 38:377- 2015 1,994 Cannavò S, Nicoletti MC, adolescents with growth hormone 382. Castello R, Di Somma C, deficiency (GHD) during the Garofalo P, Iughetti L, Loche transition period: results of a survey S, Maghnie M, Mazzanti L, among adult and paediatric Saggese G, Salerno M, Tonini endocrinologists from Italy. Endorsed G, Toscano V, Zucchini S, by SIEDP/ISPED, AME, SIE, SIMA. Cappa M GH deficiency Bizzarri C, Pedicelli S, Early retesting by GHRH + arginine J Endocrinol Invest 38:429- 2015 1,994 Boscherini B, Bedogni G, test shows normal GH response in 36. Cappa M, Cianfarani S. most children with idiopathic GH deficiency. Prader-Willi syndrome Bedogni G, Grugni G, Tringali Does segmental body composition J Endocrinol Invest 38:957- 2015 1,994 G, Marazzi N, Sartorio A. differ in women with Prader-Willi 61. syndrome compared to women with essential obesity?

225

Turner syndrome Radetti G, Mazzanti L, Di Evaluation of function and structure J Endocrinol Invest 38:963- 2015 1,994 Somma C, Salerno M, of arterial wall in girls and young 70. Gottardi E, Capalbo D, women with Turner syndrome. Tamburrino F, Colao A. Congenital pulmonary Pelizzo G, Mimmi MC, Ballico Congenital pulmonary J Matern Fetal Neonatal 2015 1,367 malformation M, Marotta M, Goruppi I, malformations: metabolomic profile Med:1-5. Peiro JL, Zambaiti E, Costanzo of lung phenotype in infants. F, Andreatta E, Tonin E, Calcaterra V. Prader-Willi syndrome Foti F, Menghini D, Orlandi E, Learning by observation and learning J Neurodev Disord 7:6. 2015 3,270 Rufini C, Crinò A, Spera S, by doing in Prader-Willi syndrome. Vicari S, Petrosini L, Mandolesi L. Neoplasia Mussa A, De Andrea M, Predictors of Malignancy in Children J Pediatr 167:886-892. 2015 3,890 Motta M, Mormile A, with Thyroid Nodules. Palestini N, Corrias A. Turner syndrome Messina MF, Aversa T, Inhibin B in adolescents and young J Pediatr Endocrinol Metab 2015 0,912 Salzano G, Costanzo D, adults with Turner syndrome. 28:1209-14. Sferlazzas C, Mirabelli S, Zirilli G, Lombardo F. Neoplasia Marino S, Caruso M, Magro Hepatoblastoma presenting as J Pediatr Endocrinol Metab 2015 0,912 G, D'Amico S, La Spina M, precocious puberty: a case report. 28:429-32. Moscheo C, Russo G, Di Cataldo A. Autoimmune Mussa A, Matarazzo P, Papillary thyroid cancer and J Pediatr Endocrinol Metab 2015 0,912 polyendocrine Corrias A. autoimmune polyglandular 28:793-5. syndrome syndrome. Beckwith-Wiedemann Mussa A, Ferrero GB. Screening Hepatoblastoma in J Pediatr Hematol Oncol 2015 0,902 syndrome Beckwith-Wiedemann Syndrome: A 37:627. Complex Issue. Disorder of sexual D'Alberton F, Assante MT, Quality of Life and Psychological J Sex Med 12:1440-9. 2015 3,150 development Foresti M, Balsamo A, Adjustment of Women Living with Bertelloni S, Dati E, Nardi L, 46,XY Differences of Sex Bacchi ML, Mazzanti L. Development.

226

GH deficiency Evelina M, Grazia M, Growth Hormone Deficiency and JIMD Rep 19:35-41. 2015 3,365 Francesca O, Marta C, Paolo Lysinuric Protein Intolerance: Case C, Rossella G, Franco A, Report and Review of the Literature. Andrea B. Williams-Beuren Stagi S, Lapi E, Martini E, de Giant multiple bladder diverticula in Kidney Int 88:416. 2015 8,563 syndrome Martino M. Williams-Beuren syndrome. Thalassemia De Sanctis V, Soliman AT, Liver Iron Concentration and Liver Mediterr J Hematol Infect 2015 0,000 Candini G, Kattamis C, Raiola Impairment in Relation to Serum IGF- Dis 7:e2015016. G, Elsedfy H. 1 Levels in Thalassaemia Major Patients: A Retrospective Study.

Thalassemia De Sanctis V, Incorvaia C, Does Insulin Like Growth Factor-1 Mediterr J Hematol Infect 2015 0,000 Soliman AT, Candini G, Pepe (IGF-1) Deficiency Have a Dis 7:e2015038. A, Kattamis C, Soliman NA, "Protective" Role in the Development Elsedfy H, Kholy ME. of Diabetic Retinopathy in Thalassaemia Major Patients?

Thalassemia De Sanctis V, Soliman AT, Late-onset Male Hypogonadism and Mediterr J Hematol Infect 2015 0,000 Elsedfy H, Soliman NA, Elalaily Fertility Potential in Thalassemia Dis 7:e2015047. R. Major Patients: Two Emerging Issues. GH deficiency Antoniazzi F, Cavarzere P, Growth hormone and early Minerva Endocrinol 2015 1,118 Gaudino R. treatment. 40:129-43. GH deficiency Cappa M, Caruso M, Saggese GH therapy in transition age: state of Minerva Endocrinol 40:23- 2015 1,118 G, Salerno MC, Tonini G. the art and future perspectives. 35.

227

Disorder of Scolamiero E, Cozzolino C, Targeted metabolomics in the Mol Biosyst 11:1525-35. 2015 2,829 metabolism Albano L, Ansalone A, expanded newborn screening for Caterino M, Corbo G, di inborn errors of metabolism. Girolamo MG, Di Stefano C, Durante A, Franzese G, Franzese I, Gallo G, Giliberti P, Ingenito L, Ippolito G, Malamisura B, Mazzeo P, Norma A, Ombrone D, Parenti G, Pellecchia S, Pecce R, Pierucci I, Romanelli R, Rossi A, Siano M, Stoduto T, Villani GR, Andria G, Salvatore F, Frisso G, Ruoppolo M. Chromosomal disorder Genesio R, Mormile A, Short stature and primary ovarian Mol Cytogenet 8:50. 2015 1,506 Licenziati MR, De Brasi D, insufficiency possibly due to Leone G, Balzano S, Izzo A, chromosomal position effect in a Bonfiglio F, Conti A, Fioretti G, balanced X;1 translocation. Lenta S, Poggiano MR, Siani P, Nitsch L. Chromosomal disorder Genesio R, Fontana P, Constitutional chromothripsis Mol Cytogenet 8:96. 2015 1,506 Mormile A, Casertano A, involving the critical region of Falco M, Conti A, Franzese A, 9q21.13 microdeletion syndrome. Mozzillo E, Nitsch L, Melis D. GH deficiency Tornese G, Faleschini E, Relapse and metastasis of atypical Neuropediatrics 46:126-9. 2015 1,240 Matarazzo L, Bibalo C, teratoid/rhabdoid tumor in a boy Zanazzo GA, Rabusin M, with neurofibromatosis type 1 Tonini G, Zennaro F, Ventura treated with recombinant human A. growth hormone. Congenital Maiorana A, Manganozzi L, Ketogenic diet in a patient with Orphanet J Rare Dis 2015 3,358 hyperinsulinism Barbetti F, Bernabei S, Gallo congenital hyperinsulinism: a novel 10:120. G, Cusmai R, Caviglia S, approach to prevent brain damage. Dionisi-Vici C.

228

Congenital disorders Melis D, Rossi A, Pivonello R, Glycogen storage disease type Ia Orphanet J Rare Dis 10:91. 2015 3,358 of glycosylation Salerno M, Balivo F, (GSDIa) but not Glycogen storage Spadarella S, Muscogiuri G, disease type Ib (GSDIb) is associated Casa RD, Formisano P, Andria to an increased risk of metabolic G, Colao A, Parenti G. syndrome: possible role of microsomal glucose 6-phosphate accumulation. Chromosomal disorder Di Cesare S, Puliafito P, Autoimmunity and regulatory T cells Pediatr Allergy Immunol 2015 3,397 Ariganello P, Marcovecchio in 22q11.2 deletion syndrome 26:591-4. GE, Mandolesi M, Capolino R, patients. Digilio MC, Aiuti A, Rossi P, Cancrini C. Adrenal disorders De Sanctis V, Soliman A, Cortisol levels in central adrenal Pediatr Endocrinol Rev 2015 0,000 Yassin M, Garofalo P. insufficiency: light and shade. 12:283-9. Thalassemia De Sanctis V, Soliman AT, Selected highlights of the VIII Pediatr Endocrinol Rev 2015 0,000 Wali Y, Elsedfy H, Daar S, Al- International Symposium of Clinicians 12:313-22. Yaarubi SA, Mevada ST, for Endocrinopathies in Thalassemia Elshinawy M, Fawzy H, Al- and Adolescent Medicine (ICET-A) on Subhi T, Al-Rawas A, Al- Growth, Puberty and Endocrine Muslehi M, El Kholy M. Complications in Thalassaemia. Auditorium of the Sultan Qaboos University (SQU) Muscat (Sultanate of Oman), 20th of December 2014.

Precocious puberty De Sanctis V, Soliman AT, Precocious Puberty Following Pediatr Endocrinol Rev 2015 0,000 Elsedfy H, Soliman NA, Elalaily Traumatic Brain Injury in Early 13:458-64. R, El Kholy M. Childhood: A Review of the Literature. Adrenal disorders Marseglia L, Alterio T, Manti Acute Adrenal Failure in a Term Pediatr Infect Dis J 2015 2,723 L, Aversa T, Gitto E, Newborn with Congenital 34:1139-40. Wasniewska M. Cytomegalovirus Infection.

229

Bone diseases Franceschi R, Maines E, Familial cleidocranial dysplasia Pediatr Int 57:1003-6. 2015 0,730 Fedrizzi M, Piemontese MR, misdiagnosed as rickets over three De Bonis P, Agarwal N, Bellizzi generations. M, Di Palma A. Prader-Willi syndrome Giordano L, Toma S, Palonta Obstructive sleep apnea in Prader- Pediatr Med Chir 2015 0,000 F, Teggi R, Zucconi M, Di Willi syndrome: risks and advantages 37(2):pmc.2015.107. Candia S, Bussi M. of adenotonsillectomy. Prader-Willi syndrome Pavone M, Caldarelli V, Sleep disordered breathing in Pediatr Pulmonol 50:1354- 2015 2,704 Khirani S, Colella M, Ramirez patients with Prader-Willi syndrome: 9. A, Aubertin G, Crinò A, A multicenter study. Brioude F, Gastaud F, Beydon N, Boulé M, Giovannini-Chami L, Cutrera R, Fauroux B. Cystic fibrosis Bizzarri C, Montemitro E, Glucose tolerance affects pubertal Pediatr Pulmonol 50:144- 2015 2,704 Pedicelli S, Ciccone S, Majo F, growth and final height of children 9. Cappa M, Lucidi V. with cystic fibrosis. Bronchopulmonary Pifferi M, Bush A, Michelucci Mannose-binding lectin 2 gene Pediatr Pulmonol 50:179- 2015 2,704 dysplasia A, Di Cicco M, Piras M, polymorphism and lung damage in 86. Caramella D, Mazzei F, Neri primary ciliary dyskinesia. M, Pioggia G, Tartarisco G, Saggese G, Simi P, Boner AL. Diabetes mellitus Rabbone I, Galderisi A, Tinti Case Report: When an Induced Illness Pediatrics 136:e1361-5. 2015 5,473 D, Ignaccolo MG, Barbetti F, Looks Like a Rare Disease. Cerutti F. Congenital Minute M, Patti G, Tornese G, Sirolimus Therapy in Congenital Pediatrics 136:e1373-6. 2015 5,473 hyperinsulinism Faleschini E, Zuiani C, Ventura Hyperinsulinism: A Successful A. Experience Beyond Infancy. Neoplasia Cambiaso P, Amodio D, Pituicytoma and Cushing's Disease in Pediatrics 136:e1632-6. 2015 5,473 Procaccini E, Longo D, Galassi a 7-Year-Old Girl: A Mere S, Camassei FD, Cappa M. Coincidence?

230

Hypochondroplasia Massart F, Miccoli M, Height outcome of short children Pharmacogenomics 2015 2,710 Baggiani A, Bertelloni S. with hypochondroplasia after 16:1965-73. recombinant human growth hormone treatment: a meta-analysis.

Bone diseases Scardapane A, Ferrante R, TNF-α gene polymorphisms and Semin Arthritis Rheum 2015 3,925 Nozzi M, Savino A, Antonucci juvenile idiopathic arthritis: Influence 45:35-41. I, Dadorante V, Balsamo M, on disease outcome and therapeutic Stuppia L, Chiarelli F, Breda L. response.

Disorder of sexual Bertelloni S, Baroncelli GI, Growth in Boys with 45,X/46,XY Sex Dev 9:183-9. 2015 2,164 development Massart F, Toschi B. Mosaicism: Effect of Growth Hormone Treatment on Statural Growth. Chromosomal disorder Pogliani L, Cerini C, Penagini Cerebral ultrasound abnormalities in World J Pediatr 11:134-40. 2015 1,025 F, Duca P, Mameli C, Zuccotti offsprings of women with C677T GV. homozygous mutation in the MTHFR gene: a prospective study.

Cushing syndrome Ciccone S, Marini R, Bizzarri C, Cushing's Syndrome in a 6-month-old Acta Derm Venereol 2016 3,638 Hachem ME, Cappa M. Boy: A Rare Side-effect due to 96(1):138-9 Inadequate use of Topical Corticosteroids.

Diabetes mellitus Ortolani F, Piccinno E, Grasso Diabetes associated with dominant Acta Diabetol 53(3):499- 2016 3,074 V, Papadia F, Panzeca R, insulin gene mutations: outcome of 501. Cortese C, Felappi B, 24-month, sensor-augmented insulin Tummolo A, Vendemiale M, pump treatment. Barbetti F. Neonatal diabetes Rabbone I, Barbetti F, Successful treatment of young Acta Diabetol 53(4):559- 2016 3,074 mellitus Marigliano M, Bonfanti R, infants presenting neonatal diabetes 65. Piccinno mellitus with continuous E, Ortolani F, Ignaccolo G, subcutaneous insulin infusion before Maffeis C, Confetto S, Cerutti genetic diagnosis. F, Zanfardino A, Iafusco D. MODY Bitterman O, Iafusco D, A dizygotic twin pregnancy in a Acta Diabetol 53(5):849- 2016 3,074 Torcia F, Tinto N, Napoli A. MODY 3-affected woman. 52. 231

Chromosomal disorder Discepolo V, Della Casa R, Mulibrey nanism: Two novel Am J Med Genet A 2016 2,082 Simonelli F, Nitsch L, mutations in a child identified by 170(8):2196-9. Salvatore F, Franzese A Array CGH and DNA sequencing. Temple syndrome Severi G, Bernardini L, New patients with Temple syndrome Am J Med Genet A 2016 2,082 Briuglia S, Bigoni S, Buldrini B, caused by 14q32 deletion: Genotype- 170A(1):162-9. Magini P, Dentici ML, Cordelli phenotype correlations and risk of DM, Arrigo T, Franzoni E, Fini thyroid cancer S, Italyankina E, Loddo I, Novelli A, Graziano C. SHOX disorder Bunyan DJ, Baffico M, Duplications upstream and Am J Med Genet A 2016 2,082 Capone L, Vannelli S, Iughetti downstream of SHOX identified as 170A(4):949-57. L, Schmitt S, Taylor EJ, novel causes of Leri-Weill Herridge AA, Shears D, dyschondrosteosis or idiopathic short Forabosco A, Coviello DA. stature. Lymphoma Cambiaso P, Bottaro G, An Incidental Finding of Bilateral Am J Med Sci 352(1):80. 2016 1,575 Cianfarani S, Tomà P, Vito Adrenal Lymphoma. RD, Cappa M. GH deficiency Improda N, Capalbo D, Muscle and skeletal health in Best Pract Res Clin 2016 5,070 Esposito A, Salerno M. children and adolescents with GH Endocrinol Metab deficiency. 30(6):771-783 Prader-Willi syndrome Grugni G, Marzullo P. Diagnosis and treatment of GH Best Pract Res Clin 2016 5,070 deficiency in Prader-Willi syndrome. Endocrinol Metab 30(6):785-794. GH deficiency Di Iorgi N, Morana G, Napoli Classical and non-classical causes of Best Pract Res Clin 2016 5,070 F, Gastaldi R, Calcagno A, GH deficiency in the Paediatric age Endocrinol Metab 30:705- Patti G, Loche S, Maghnie M 736. Rosai-Dorfman disease di Dio F, Mariotti I, Coccolini Unusual presentation of Rosai- BMC Pediatr 16:62. 2016 1,813 E, Bruzzi P, Predieri B, Iughetti Dorfman disease in a 14-month-old L Italian child: a case report and review of the literature.

232

Haemophilia Giordano P, Brunetti G, High serum sclerostin levels in Br J Haematol 172(2):293- 2016 5,810 Lassandro G, Notarangelo LD, children with haemophilia A 5. Luciani M, Mura RM,Lazzareschi I, Santagostino E, Piacente L, Ventura A, Cavallo L, Grano M, Faienza MF Cystic fibrosis Tosco A, De Gregorio F, A novel treatment of cystic fibrosis Cell Death Differ 2016 8,218 Esposito S, De Stefano D, acting on-target: cysteamine plus 23(8):1380-93. Sana I, Ferrari E, Sepe A, epigallocatechin gallate for the Salvadori L, Buonpensiero P, autophagy-dependent rescue of class Di Pasqua A, Grassia R, Leone II-mutated CFTR. CA, Guido S, De Rosa G, Lusa S, Bona G, Stoll G, Maiuri MC, Mehta A, Kroemer G, Maiuri L, Raia V. Congenital adrenal Sani I, Rossodivita AN, CYP21A2 genetics: When genotype Clin 2016 2,275 hyperplasia Mariani M, Costella A, does not fit phenotype. Biochem. 2016 Apr;49(6):5 Molinario R, Concolino P, 24-5 Capoluongo E. Peroxisomal disease Semeraro M, Rizzo C, Boenzi A new multiplex method for the Clin Chim Acta 458:159-64. 2016 2,799 S, Cappa M, Bertini E, diagnosis of peroxisomal disorders Antonetti G, Dionisi-Vici C. allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pressure chemical ionization-tandem mass spectrometry.

233

Beckwith-Wiedemann Russo S, Calzari L, Mussa A, A multi-method approach to the Clin Epigenetics 1;8:23. 2016 4,327 syndrome Mainini E, Cassina M, Di molecular diagnosis of overt and Candia S, Clementi M, borderline 11p15.5 defects Guzzetti S, Tabano S, Miozzo underlying Silver-Russell and M, Sirchia S, Finelli P, Beckwith-Wiedemann syndromes. Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L. Beckwith-Wiedemann Mussa A, Russo S, de Fetal growth patterns in Beckwith- Clin Genet 90(1):21-7. 2016 3,892 syndrome Crescenzo A, Freschi A, Wiedemann syndrome. Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Silengo MC, Larizza L, Riccio A, Ferrero GB. Complex phenotype Grandone A, Torella A, Expanding the phenotype of RTTN Clin Genet 90(5):445-450. 2016 3,892 Santoro C, Giugliano T, Del variations: a new family with primary Vecchio Blanco F, Mutarelli microcephaly, severe growth failure, M, Cirillo M, Cirillo G, Piluso brain malformations and dermatitis. G, Capristo C, Festa A, Marzuillo P, Miraglia Del Giudice E, Perrone L, Nigro V. Kawasaki disease Stagi S, Rigante D, Lepri G, Severe vitamin D deficiency in Clin Rheumatol 2016 1,774 Matucci Cerinic M, Falcini F. patients with Kawasaki disease: a 35(7):1865-72. potential role in the risk to develop heart vascular abnormalities?

Wolfram syndrome Maltoni G, Minardi R, Cristalli A novel compound heterozygous Diabetes Res Clin Pract 2016 2,538 CP, Nardi L, D'Alberton F, mutation in an adolescent with insulin- 121:59-61. Mantovani V, Zucchini S. dependent diabetes: The challenge of characterizing Wolfram syndrome.

234

GH deficiency Esposito A, Capalbo D, De Long-term effects of growth Endocrine 53(1):192-8. 2016 3,279 Martino L, Rezzuto M, Di hormone (GH) replacement therapy Mase R, Pignata C, Salerno M. on hematopoiesis in a large cohort of children with GH deficiency.

Prader-Willi syndrome Lazzer S, Grugni G, Tringali G, Prediction of basal metabolic rate in Eur J Clin Nutr 70(4):494-8. 2016 2,935 Sartorio A. patients with Prader-Willi syndrome. GH deficiency De Bellis A, Bellastella G, Longitudinal behavior of Eur J Endocrinol 174:381- 2016 3,892 Maiorino MI, Aitella E, Lucci autoimmune GH deficiency: from 7. E, Cozzolino D, Bellastella A, childhood to transition age. Bizzarro A, Giugliano D, Esposito K; Italian Autoimmune Hypophysitis Network Group Precocious puberty Guaraldi F, Beccuti G, Gori MANAGEMENT OF ENDOCRINE Eur J Endocrinol 174:R79- 2016 3,892 D, Ghizzoni L DISEASE: Long-term outcomes of the 87. treatment of central precocious puberty. Congenital adrenal Ceccato F, Barbot M, Albiger Long-term glucocorticoid effect on Eur J Endocrinol 175:101-6. 2016 3,892 hyperplasia N, Zilio M, De Toni P, Luisetto bone mineral density in patients with G, Zaninotto M, Greggio NA, congenital adrenal hyperplasia due to Boscaro M, Scaroni C, 21-hydroxylase deficiency. Camozzi V. Congenital Cavarzere P, Camilot M, Popa Congenital hypothyroidism with Eur J Endocrinol 175:395- 2016 3,892 hypothyroidism FI, Lauriola S, Teofoli F, delayed TSH elevation in low-birth- 402. Gaudino R, Vincenzi M, weight infants: incidence, diagnosis Antoniazzi F. and management.

GH deficiency Guzzetti C, Ibba A, Pilia S, Cut-off limits of the peak GH Eur J Endocrinol 175:41-47. 2016 3,892 Beltrami N, Di Iorgi N, Rollo A, response to stimulation tests for the Fratangeli N, Radetti G, diagnosis of GH deficiency in children Zucchini S, Maghnie M, Cappa and adolescents: study in patients M, Loche S with organic GHD.

235

Beckwith-Wiedemann Mussa A, Russo S, De (Epi)genotype-phenotype Eur J Hum Genet 2016 4,580 syndrome Crescenzo A, Freschi A, correlations in Beckwith-Wiedemann 24(2):183-90. Calzari L, Maitz S, Macchiaiolo syndrome. M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB. Beckwith-Wiedemann Mussa A, Di Candia S, Russo Recommendations of the Scientific Eur J Med Genet 59(1):52- 2016 1,810 syndrome S, Catania S, De Pellegrin M, Committee of the Italian Beckwith- 64. Di Luzio L, Ferrari M, Tortora Wiedemann Syndrome Association C, Meazzini MC, Brusati R, on the diagnosis, management and Milani D, Zampino G, follow-up of the syndrome. Montirosso R, Riccio A, Selicorni A, Cocchi G, Ferrero GB. MODY Piccini B, Artuso R, Lenzi L, Clinical and molecular Eur J Med Genet 2016 1,810 Guasti M, Braccesi G, Barni F, characterization of a novel INS 59(11):590-595. Casalini E, Giglio S, Toni S mutation identified in patients with MODY phenotype. Turner syndrome Larizza D, Albanesi M, De Neoplasia in Turner syndrome. The Eur J Med Genet 2016 1,810 Silvestri A, Accordino G, importance of clinical and screening 59(5):269-73. Brazzelli V, Maffè practices during follow-up. GC, Calcaterra V. Myhre syndrome Garavelli L, Maini I, Baccilieri Natural history and life-threatening Eur J Pediatr 175(10):1307- 2016 1,791 F, Ivanovski I, Pollazzon M, complications in Myhre syndrome 15. Rosato S, Iughetti L, Unger S, and review of the literature. Superti-Furga A, Tartaglia M. Thalassemia De Sanctis V, Soliman AT, Diabetes and Glucose Metabolism in Expert Rev Hematol 2016 2,439 Elsedfy H, Pepe A, Kattamis C, Thalassemia Major: An Update. 9(4):401-8. El Kholy M, Yassin M

236

Chromosomal disorder Stagi S, di Tommaso M, Triple X syndrome and Fertil Steril 105(6):1547- 2016 4,426 Scalini P, Lapi E, Losi S, puberty: focus on the hypothalamus- 53. Bencini E, Masoni F, Dosa L, hypophysis-gonad axis. Becciani S, de Martino M. Turner syndrome Faienza MF, Ventura A, Bone Fragility in Turner Syndrome: Front Endocrinol 2016 0,000 Colucci S, Cavallo L, Grano M, Mechanisms and Prevention (Lausanne) 7:34. Brunetti G. Strategies. GH deficiency Marini MG, Chesi P, Mazzanti Stories of experiences of care for Future Sci OA 2(1):FSO82. 2016 2,813 L, Guazzarotti L, Toni growth hormone deficiency: the TD, Salerno MC, Officioso A, CRESCERE project. Parpagnoli M, Angeletti C, Faienza MF, Iezzi ML, Aversa T, Sacchetti C. Chromosomal disorder Fiorio P, Rosaia De Santis L, Hypogonadotropic hypogonadism in Gynecol Endocrinol 2016 1,413 Cuoco C, Gimelli G, Gastaldi a trisomy X carrier: phenotype 32(1):14-7. R, Bonatti F, Ravazzolo R, description and genotype correlation. Bocciardi R GH deficiency De Leonibus C, De Marco S, Growth Hormone Deficiency in Horm Res Paediatr 85:363- 2016 1,661 Stevens A, Clayton P, Chiarelli Prepubertal Children: Predictive 71. F, Mohn A. Markers of Cardiovascular Disease. Adrenal disorders Bizzarri C, Pedicelli S, Cappa Water Balance and 'Salt Wasting' in Horm Res Paediatr 86:143- 2016 1,661 M, Cianfarani S. the First Year of Life: The Role of 153. Aldosterone-Signaling Defects. GH deficiency Baronio F, Mazzanti L, Girtler The Influence of Growth Hormone Horm Res Paediatr 86:196- 2016 1,661 Y, Tamburrino F, Fazzi A, Lupi Treatment on Glucose Homeostasis 200. F, Longhi S, Radetti G. in Growth Hormone-Deficient Children: A Six-Year Follow-Up Study

Precocious puberty Deodati A, Sallemi A, Serum Levels of Polybrominated Horm Res Paediatr 86:233- 2016 1,661 Maranghi F, Germani D, Diphenyl Ethers in Girls with 239. Puglianiello A, Baldari F, Premature Thelarche. Busani L, Mancini FR, Tassinari R, Mantovani A, Cianfarani S.

237

Turner syndrome Grandone A, Del Vecchio Multiplex Ligation-Dependent Probe Horm Res Paediatr 86:330- 2016 1,661 Blanco F, Torella A, Caruso M, Amplification Accurately Detects 336. De Luca F, Di Mase R, Messina Turner Syndrome in Girls with Short MF, Salerno MC, Sallemi A, Stature. Perone L, Marzuillo P, Miraglia Del Giudice E, Nigro V, Perrone L Turner syndrome Wasniewska M, Salerno M, The Evolution of Thyroid Function Horm Res Paediatr 86:403- 2016 1,661 Corrias A, Mazzanti L, after Presenting with Hashimoto 409. Matarazzo P, Corica D, Aversa Thyroiditis Is Different between T, Messina MF, De Luca F, Initially Euthyroid Girls with and Valenzise M. Those without Turner Syndrome.

Congenital adrenal Bizzarri C, Massimi A, Federici A New Homozygous Frameshift Horm Res Pediatr 86:53- 2016 1,661 hyperplasia L, Cualbu A, Loche S, Mutation in the HSD3B2 Gene in an 61. Bellincampi L, Bernardini S, Apparently Nonconsanguineous Cappa M, Porzio O. Italian Family. Precocious puberty Bartolini E, Stagi S, Scalini P, Central precocious puberty due to Hormones (Athens) 2016 1,237 Bianchi A, Ciccarone A, hypothalamic hamartoma in 15(1):144-146. Mascalchi M. neurofibromatosis type 1. Precocious puberty Lucaccioni L, McNeilly J, The measurement of urinary Hormones (Athens) 2016 1,237 Mason A, Giacomozzi C, gonadotropins for assessment and 15:377-384. Kyriakou A, Shaikh management of pubertal disorder. MG, Iughetti L, Ahmed SF. Williams-Beuren Stagi S, Manoni C, Scalini Bone mineral status and metabolism Hormones (Athens) 2016 1,237 syndrome P, Chiarelli F, Verrotti A, in patients with Williams-Beuren 15:404-412. Cecchi C, Lapi E, Giglio S, syndrome. Romano S, de Martino M Hypogonadism Ferrari I, Bouilly J, Beau I, Impaired protein stability and nuclear Hum Mol Genet 25:5223- 2016 5,985 Guizzardi F, Ferlin A, localization of NOBOX variants 5233. Pollazzon M, Salerno M, associated with premature ovarian Binart N, Persani L, Rossetti R. insufficiency.

238

Rubinstein-Taybi Negri G, Magini P, Milani D, From Whole Gene Deletion to Point Hum Mutat 37:175-83. 2016 5,089 syndrome Colapietro P, Rusconi D, Mutations of EP300-Positive Scarano E, Bonati MT, Priolo Rubinstein-Taybi Patients: New M, Crippa M, Mazzanti L, Insights into the Mutational Wischmeijer A, Tamburrino F, Spectrum and Peculiar Clinical Pippucci T, Finelli P, Larizza L, Hallmarks. Gervasini C. Kabuki syndrome Stagi S, Gulino AV, Lapi E, Epigenetic control of the immune Immunol Res 64:345-359. 2016 2,934 Rigante D. system: a lesson from Kabuki syndrome. Thalassemia De Sanctis V, Soliman AT, Current practice in treating adult Indian J Endocrinol Metab 2016 0,000 Elsedfy H, Di Maio S. female thalassemia major patients 20:880-881. with hypogonadism: An International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescence Medicine survey from Italy. GH deficiency Lupi F, Bozzola M, Longhi S, The effect of two different GH Ital J Pediatr 42:5. 2016 1,614 Farello G, Radetti dosages on final height and bone geometry. Pseudohypoparathyroi de Sanctis L, Giachero F, Genetic and epigenetic alterations in Ital J Pediatr 42:101. 2016 1,614 dism Mantovani G, Weber G, the GNAS locus and clinical Salerno M,Baroncelli GI, Elli consequences in MF, Matarazzo, Wasniewska Pseudohypoparathyroidism: Italian M, Mazzanti L, Scirè G, common healthcare pathways Tessaris D; Study Group adoption. Endocrine diseases due to altered function of Gsα protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED). Chromosomal disorder Bossi G, Gertosio C, Meazza Failure to thrive as presentation in a Ital J Pediatr 42:14. 2016 1,614 C, Farello G, Bozzola M patient with 22q11.2 microdeletion.

239

Congenital adrenal Bizzarri C, Olivini N, Pedicelli Congenital primary adrenal Ital J Pediatr 42:73. 2016 1,614 hyperplasia S, Marini R, Giannone G, insufficiency and selective Cambiaso P, Cappa M. aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience. Behçet disease Marsili M, Marzetti V, Autoimmune sensorineural hearing Ital J Pediatr 42:81. 2016 1,614 Lucantoni M, Lapergola G, loss as presenting manifestation of Gattorno M, Chiarelli F, Breda paediatric Behçet disease responding L to adalimumab: a case report.

GH deficiency Iughetti L, Tornese G, Street Long-term safety and efficacy of Ital J Pediatr 42:93. 2016 1,614 ME, Napoli F, Giavoli C, Omnitrope®, a somatropin biosimilar, Antoniazzi F, Stagi S, Luongo in children requiring growth C, Azzolini S, Ragusa L, Bona hormone treatment: Italian interim G, Zecchino C, Aversa T, analysis of the PATRO Children study. Persani L, Guazzarotti L, Zecchi E, Pietropoli A, Zucchini S. Pseudohypoparathyroi Elli FM, Bordogna P, de Screening of PRKAR1A and PDE4D in J Bone Miner Res 31:1215- 2016 5,622 dism Sanctis L, Giachero F, Verrua a Large Italian Series of Patients 24. E, Segni M, Mazzanti L, Clinically Diagnosed With Albright Boldrin V, Toromanovic A, Hereditary Osteodystrophy and/or Spada A, Mantovani G Pseudohypoparathyroidism.

Cystic fibrosis Montanini L, Smerieri A, Gulli miR-146a, miR-155, miR-370, and J Clin Endocrinol Metab 2016 5,531 M, Cirillo F, Pisi G, Sartori C, miR-708 are CFTR-dependent, 101: 4955-4963. Amarri S, Bernasconi S, predicted FOXO1 regulators and Marmiroli N, Street ME change at onset of CFRD. Cystic fibrosis Montanini L, Cirillo F, HMGB1 is increased by CFTR loss of J Clin Endocrinol Metab 2016 5,531 Smerieri A, Pisi G, Giardino Im function, is lowered by insulin, and 101:1274-81 d' Apolito M, Spaggiari C, increases in vivo at onset of CFRD Bernasconi S, Amarri S, Street ME

240

Pseudohypoparathyroi Elli FM, Linglart A, Garin I, de The Prevalence of GNAS Deficiency- J Clin Endocrinol Metab 2016 5,531 dism Sanctis L, Bordogna P, Grybek Related Diseases in a Large Cohort of 101:3657-3668 V, Pereda A, Giachero F, Patients Characterized by the Verrua E, Hanna P, Mantovani EuroPHP Network. G, Perez de Nanclares G. Congenital de Filippis T, Marelli F, JAG1 Loss-Of-Function Variations as a J Clin Endocrinol Metab 2016 5,531 hypothyroidism Nebbia G, Porazzi P, Corbetta Novel Predisposing Event in the 101:861-70. S, Fugazzola L, Gastaldi R, Pathogenesis of Congenital Thyroid Vigone MC, Biffanti R, Defects. Frizziero D, Mandarà L, Prontera P, Salerno M, Maghnie M, Tiso N, Radetti G, Weber G, Persani L GH deficiency Loche S, Salerno M, Garofalo Adherence in children with growth J Endocrinol Invest 2016 1,994 P, Cardinale GM, Licenziati hormone deficiency treated with r- 39:1419-24. MR, Citro G, Caruso Nicoletti hGH and the easypod™ device. M, Cappa M, Longobardi S, Maghnie M, Perrone R Congenital adrenal Menabò S, Boccassini S, Improving the diagnosis of 11β- J Endocrinol Invest 39:291- 2016 1,994 hyperplasia Gambineri A, Balsamo A, hydroxylase deficiency using home- 95. Pasquali R, Prontera O, made MLPA probes: identification of Mazzanti L, Baldazzi L. a novel chimeric CYP11B2/CYP11B1

GH deficiency Cappa M, Iughetti L, Loche S, Efficacy and safety of growth J Endocrinol Invest 39:667- 2016 1,994 Maghnie M, Vottero A; hormone treatment in children with 77. GeNeSIS National Board on short stature: the Italian cohort of behalf of the GeNeSIS Italian the GeNeSIS clinical study. Investigators Complex phenotype Mariani M, Rigante D, Progressive osseous heteroplasia in a J Eur Acad Dermatol 2016 3,029 Guerriero C, Ricci F, Sani 7-year-old girl with osteoma cutis Venereol 30:905-7. I, Rossodivita A. and autoimmune thyroiditis: the importance of investigating GNAS mutations.

241

Beckwith-Wiedemann Mussa A, Molinatto C, Cancer Risk in Beckwith-Wiedemann J Pediatr 176:142-149. 2016 3,890 syndrome Baldassarre G, Riberi E, Russo Syndrome: A Systematic Review and S, Larizza L, Riccio A, Ferrero Meta-Analysis Outlining a Novel GB. (Epi)Genotype Specific Histotype Targeted Screening Protocol.

McCune-Albright Tessaris D, Matarazzo P, Lala Odontoiatric perspectives and J Pediatr Endocrinol Metab 2016 0,912 syndrome R, Defabianis P. osteonecrosis of the jaw as a possible 29:333-6. adverse effect of bisphosphonates therapy in fibrous dysplasia and McCune-Albright syndrome.

Chromosomal disorder Maggioli C, Cambiaso P, Long-term first line medical J Pediatr Endocrinol Metab 2016 0,912 Ciccone S, Colafati GS, Cappa treatment in a 4-year-old girl with 29:497-501. M. Xq26.3 microduplication-negative somatotropinoma. Case report and literature review.

GH deficiency Lonero A, Delvecchio M, A novel OTX2 gene frameshift J Pediatr Endocrinol Metab 2016 0,912 Primignani P, Caputo R, mutation in a child with 29:603-5. Bargiacchi S, Penco S, Mauri microphthalmia, ectopic pituitary L, Andreucci E, Faienza MF, and growth hormone deficiency. Cavallo L. Congenital Paone L, Fleisch AF, Feldman Liothyronine Improves Biochemical J Pediatr. 175:167-172. 2016 3,890 Hypothyroidism HA, Brown RS, Wassner AJ Control of Congenital Hypothyroidism in Patients with Central Resistance to Thyroid Hormone Costello syndrome Leoni C, Onesimo R, Giorgio Understanding Growth Failure in J 2016 3,890 V, Diamanti A, Giorgio D, Costello Syndrome: Increased Resting Pediatr. 2016 Mar;170:322 Martini L, Rossodivita A, Energy Expenditure. -4. Tartaglia M, Zampino G RASopathies Morcaldi G, Bellini T, Rossi LYMPHODYSPLASIA AND KRAS Lymphology 48:121-7. 2016 1,921 C, Maghnie M, Boccardo F, MUTATION: A CASE REPORT AND Bonioli E, Bellini C. LITERATURE REVIEW.

242

Thalassemia De Sanctis V, Elsedfy H, Clinical and Biochemical Data of Mediterr J Hematol Infect 2016 0,000 Soliman AT, Elhakim IZ, Adult Thalassemia Major patients Dis 8:e2016022. Kattamis C, Soliman NA, (TM) with Multiple Endocrine Elalaily R. Complications (MEC) versus TM Patients with Normal Endocrine Functions: A long-term Retrospective Study (40 years) in a Tertiary Care Center in Italy. Thalassemia De Sanctis V, Elsedfy H, The Diagnostic Approach to Central Mediterr J Hematol Infect 2016 0,000 Soliman AT, Elhakim IZ, Adrenocortical Insufficiency (CAI) in Dis 8:e2016026. Soliman NA, Karimi M, Elalaily Thalassemia. R. Thalassemia De Sanctis V, Soliman AT, The ICET-A Recommendations for the Mediterr J Hematol Infect 2016 0,000 Elsedfy H, Yaarubi SA, Skordis Diagnosis and Management of Dis 8:e2016058. N, Khater D, El Kholy M, Disturbances of Glucose Homeostasis Stoeva I, Fiscina B, in Thalassemia Major Patients Angastiniotis M, Daar S, Kattamis C Thalassemia De Sanctis V, Elsedfy H, Acquired Hypogonadotropic Mediterr J Hematol Infect 2016 0,000 Soliman AT, Elhakim IZ, Pepe Hypogonadism (AHH) in Dis. 2016 Jan A, Kattamis C, Soliman NA, Thalassaemia Major Patients: An 1;8:e2016001. Elalaily R, El Kholy M, Yassin Underdiagnosed Condition? M. GH deficiency Meazza C, Gertosio C, Pagani Is retesting in growth hormone Minerva Endocrinol. 2016 2016 1,118 S, Pilotta A, Tinelli C, Buzi F, deficient children really useful? Jun 15. Farello G, Genoni G, Bona G, Bozzola M. Precocious puberty Nacinovich R, Buzi F, Oggiano Body experiences and Minerva Pediatr 68:11-18 2016 0,532 S, Rossi S, Spada S, Broggi psychopathology in idiopathic central F, Pilotta A, Neri F, Bomba M precocious and early puberty. APECED syndrome Valenzise M, Alessi L, Bruno APECED syndrome in childhood: Minerva Pediatr 68:226-9. 2016 0,532 E, Cama V, Costanzo D, clinical spectrum is enlarging. Genovese C, Mignosa C, Scuderi V, DE Luca F

243

Skin lesions Orsini A, Mazza R, A rare case of hypomelanosis of Ito Minerva Pediatr 68:382-3 2016 0,532 Mantellassi I, Ferri G, presenting with generalized alopecia. Taddeucci G, Saggese G, Bonuccelli A. Graves disease De Luca F, Alessi L, Bruno E, Graves' disease in childhood: new Minerva Pediatr 68:66-9. 2016 0,532 Cama V, Costanzo D, epidemiological, pathophysiological Genovese C, Wasniewska M and therapeutic insights. GH deficiency Pagani S, DE Filippo G, Growth hormone receptor Minerva Pediatr Jun 29 2016 0,532 Genoni G, Rendina polymorphisms and growth hormone D, Meazza C, Bozzola E, Bona response to stimulation test: a pilot G, Bozzola study.

GH deficiency Giordano M, Muratore V, A 18p11.23-p11.31 microduplication Mol Cytogenet 9:89. 2016 1,506 Babu D, Meazza C, Bozzola M. in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency. SHOX disorder Valetto A, Bertini V, Short Stature in Isodicentric Y Mol Syndromol 7:19-25. 2016 0,000 Michelucci A, Toschi B, Dati E, Chromosome and Three Copies of Baroncelli GI, Bertelloni S the SHOX Gene: Clinical Report and Review of Literature.

Chromosomal disorder Maini I, Ivanovski I, Iodice A, Endocrinological abnormalities are a Mol Syndromol 7:337-343 2016 0,000 Rosato S, PollazzonM, main feature of 17p13.1 Mussini M, Belligni EF, microduplication syndrome: a new CouttonC, Marinelli M, case and Literature review Barbieri V, Napoli M, Pascarella R, Sartori C, Madia F, Fusco C, Franchi F, Street ME, Garavelli L. Brain malformations Severino M, Tortora D, Expanding the spectrum of Neuroradiology 58:33-44. 2016 2,274 Pistorio A, Ramenghi LA, congenital anomalies of the Napoli F, Mancardi MM, diencephalic-mesencephalic junction. Striano P, Capra V, Rossi A.

244

Haematologic Mandese V, Marotti F, Effects of nutritional intake on Nutr J 15:46. 2016 3,265 disorders, general Bedetti L, Bigi E, Palazzi disease severity in children with G, Iughetti L sickle cell disease. Prader-Willi syndrome Fintini D, Grugni G, Bocchini Disorders of glucose metabolism in Nutr Metab Cardiovasc Dis 2016 3,390 S, Brufani C, Di Candia S, Prader-Willi syndrome: Results of a 26:842-847. Corrias A, Delvecchio M, multicenter Italian cohort study. Salvatoni A, Ragusa L, Greggio N, Franzese A, Scarano E, Trifirò G, Mazzanti L, Chiumello G, Cappa M, Crinò A; Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) Osteogenesis Brunetti G, Papadia F, Impaired bone remodeling in Osteoporos Int 27:2355- 2016 3,450 imperfecta Tummolo A, Fischetto R, children with osteogenesis 65. Nicastro F, Piacente L, A imperfecta treated and untreated Ventura, Mori G, Oranger A, with bisphosphonates: the role of Gigante I, Colucci S, Ciccarelli DKK1, RANKL, and TNF-α. M, Grano M, Cavallo L, Delvecchio M, Faienza MF CHARGE syndrome Martire B, Panza R, Pillon CHARGE syndrome and common Pediatr Allergy Immunol 2016 3,947 M, Delvecchio M. variable immunodeficiency: A case 27:546-50. report and review of literature. Prader-Willi syndrome Fintini D, Inzaghi E, Non-Alcoholic Fatty Liver Disease Pediatr Obes 11:235-8. 2016 3,689 Colajacomo M, Bocchini (NAFLD) in children and adolescents S, Grugni G, Brufani C, Cappa with Prader-Willi Syndrome (PWS). M, Nobili V, Cianfarani S, Crinò A. Disorder of sexual Bertelloni S, Baldinotti F, Russo 5α-Reductase-2 Deficiency: Clinical Sex Dev 10:28-36. 2016 2,164 development G, Ghirri P, Dati E, Michelucci A, Findings, Endocrine Pitfalls, and Moscuzza F, Meroni S, Colombo Genetic Features in a Large Italian I, Sessa MR, Baroncelli GI Cohort.

245

Prader-Willi syndrome Lassi G, Priano L, Maggi S, Deletion of the Snord116/SNORD116 Sleep 39:637-44. 2016 4,793 Garcia-Garcia C, Balzani E, El- Alters Sleep in Mice and Patients Assawy N, Pagani M, Tinarelli with Prader-Willi Syndrome. F, Giardino D, Mauro A, Peters J, Gozzi A, Grugni G, Tucci V. Prader-Willi syndrome Grugni G, Sartorio A, Crinò A. Growth hormone therapy for Prader- Ther Clin Risk Manag 2016 1,903 willi syndrome: challenges and 12:873-81. solutions. Haematologic Iughetti L, Bigi E, Venturelli D. Novel insights in the management of World J Clin Pediatr 5:25- 2016 1,164 disorders, general sickle cell disease in childhood. 34. Chromosomal disorder Stagi S, Di Tommaso M, Cross-sectional study shows that Acta Paediatr 106(4):619- 2017 1,647 Scalini P, Sandini E, Masoni impaired bone mineral status and 626. F, Chiarelli F, Verrotti A, Giglio metabolism are found in nonmosaic S, Romano S, de Martino M. triple X syndrome.

Beckwith-Wiedemann Mussa A, Ferrero GB. Serum alpha-fetoprotein screening Am J Med Genet A 2017 2,082 syndrome for hepatoblastoma in Beckwith- 173(3):585-587. Wiedemann syndrome. Noonan syndrome Baldassarre G, Mussa A, Carli Constitutional bone impairment in Am J Med Genet A 2017 2,082 D, Molinatto C, Ferrero GB. Noonan syndrome 173(3):692-698. Complex phenotype Cohen N, Cohen Maxillofacial features and systemic Am J Med Genet A 2017 2,082 E, Gaiero A, Zecca S, Fichera malformations in expanded spectrum 173(5):1208-1218. G, Baldi F, Giordanetto JF, Hemifacial Microsomia. Mercier JM, Cohen A. Abnormality of Buonuomo PS, Iughetti L, Timely diagnosis of sitosterolemia by Atherosclerosis 262:71-77. 2017 3,942 cholesterol Pisciotta L, Rabacchi C, next generation sequencing in two metabolism Papadia F, Bruzzi P, Tummolo children with severe A, Bartuli A, Cortese C, hypercholesterolemia. Bertolini S, Calandra S.

246

Thyroid abnormalities Vigone MC, Di Frenna M, Mild TSH resistance: clinical and Clin Endocrinol (Oxf) May 2017 3,487 Guizzardi F, Gelmini G, de hormonal features in childhood and 31. doi: Filippis T, Mora S, Caiulo S, adulthood. 10.1111/cen.13387. Sonnino M, Bonomi M, Persani L, Weber G. Prader-Willi syndrome Fontana P, Grasso M, SNORD116 deletions cause Prader- Clin Genet. 2017 Mar 7. 2017 3,892 Acquaviva F, Gennaro E, Galli Willi syndrome with a mild doi: 10.1111/cge. ML, Falco phenotype and macrocephaly. M, Scarano F, Scarano G, Lonardo F Neonatal diabetes Rabbone I, Barbetti F, Gentilella Insulin therapy in neonatal diabetes Diabetes Res Clin Pract 2017 2,538 mellitus R, Mossetto G, Bonfanti R, mellitus: a review of the literature. 13;129:126-135. Maffeis C, Iafusco D, Piccinno E

Congenital adrenal Bizzarri C, Improda N, Hydrocortisone therapy and growth Endocr Pract 23(5):546- 2017 2,074 hyperplasia Maggioli C, Capalbo D, Roma trajectory in children with classical 556. S, Porzio O, Salerno M, Cappa congenital adrenal hyperplasia. M.

Rickets Pozzilli P, Cappa M. Sleeping cupid by caravaggio: what Endocr Pract. 2017 Apr 27. 2017 2,074 diagnosis. doi: 10.4158/EP171854.CO. Precocious puberty Grandone A, Cirillo G, Sasso MKRN3 levels in girls with central Endocrine. 2017 Mar 15. 2017 3,279 M, Capristo C, Tornese G, precocious puberty and correlation doi: 10.1007/s12020-017- Marzuillo P, Luongo C, with sexual hormone levels: a pilot 1281-x. Rosaria Umano G, Festa A, study. Coppola R, Miraglia Del Giudice E, Perrone L. Prader-Willi syndrome Rigamonti AE, Bini S, Piscitelli Hedonic eating in Prader–Willi Food & Nutrition Research, 2017 3,226 F, Lauritano A, Di Marzo V, syndrome is associated with blunted 61:1, DOI: Vanetti C, Agosti F, De Col A, PYY secretion. 10.1080/16546628.2017.1 Lucchetti E, Grugni G, Sartorio 297553 A

247

Mowat-Wilson Garavelli L, Ivanovski I, Caraffi Neuroimaging findings in Mowat- Genet Med19:691-70. 2017 7,710 syndrome SG, Santodirocco D, Pollazzon Wilson syndrome: a study of 54 M, Cordelli DM, Abdalla E, patients. Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR. Chromosomal disorder Massarotti C, Fiorio Controlled ovarian stimulation and Gynecol Endocrinol. 2017 2017 1,413 P, Gastaldi R, Rosaia De Santis IVF pregnancy in a trisomy X carrier May 9:1-3. L, Pastorino D, Remorgida V, with associated hypogonadotropic Anserini P. hypogonadism.

248

Precocious puberty Faienza MF, Brunetti G, Metabolic Outcomes, Bone Health, Horm Res Paediatr 87:162- 2017 1,661 Acquafredda A, Delvecchio M, and Risk of Polycystic Ovary 169. Lonero A, Gaeta A, Suavo Syndrome in Girls with Idiopathic Bulzis P, Corica D, Velletri MR, Central Precocious Puberty Treated De Luca F, Cavallo L, with Gonadotropin-Releasing Wasniewska M. Hormone Analogues. Precocious puberty Murri V, Antoniazzi F, Piazza Lung Function in Women with Horm Res Paediatr 87:95- 2017 1,661 M, Cavarzere P, Banzato C, Idiopathic Central Precocious 102.

Boner A, Gaudino R. Puberty: A Pilot Study . McCune-Albright de Sanctis L, Galliano I, Combining Real-Time COLD- and Horm Res 2017 1,661 syndrome Montanari P, Matarazzo P, MAMA-PCR TaqMan Techniques to Paediatr. 2017 Mar 23. doi: Tessaris D, Bergallo M. Detect and Quantify R201 GNAS 10.1159/000463384. Mutations in the McCune-Albright Syndrome . Congenital de Filippis T, Gelmini G, A Frequent Oligogenic Involvement in Hum Mol Genet. 2017 Apr 2017 5,985 hypothyroidism Paraboschi E, Vigone MC, Di Congenital Hypothyroidism. 21. doi: Frenna M, Marelli F, Bonomi 10.1093/hmg/ddx145. M, Cassio A, Larizza D, Moro M, Radetti G, Salerno M, Ardissino D, Weber G, Gentilini D, Guizzardi F, Duga S, Persani L. Autoimmune Perri V, Gianchecchi E, Scarpa Altered B cell homeostasis and Toll- Immunobiology 222:372- 2017 2,781 polyendocrine R, Valenzise M, Rosado MM, like receptor 9-driven response in 383. syndrome Giorda E, Crinò A, Cappa M, patients affected by autoimmune Barollo S, Garelli S, Betterle C, polyglandular syndrome Type 1: Fierabracci A Altered B cell phenotype and dysregulation of the B cell function in APECED patients. Autoimmune Valenzise M, Aversa T, Novel insight into Chronic Ital J Pediatr 43:11. 2017 1,614 polyendocrine Salzano G, Zirilli G, De Luca F, Inflammatory Demyelinating syndrome Su M. Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children.

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Diabetes mellitus Delvecchio M, Mozzillo E, Monogenic Diabetes accounts for J Clin Endocrinol Metab 2017 5,531 Salzano G, Iafusco D, Frontino 6.3% of cases referred to 15 Italian 102:1826-34. G, Patera PI, Rabbone I, pediatric diabetes Centers during Cherubini V, Grasso V, Tinto 2007-2012. N, Giglio S, Contreas G, Di Paola R, Salina A, Cauvin V, Tumini S, d'Annunzio G, Iughetti L, Mantovani V, Maltoni G, Toni S, Marigliano M, Barbetti F; Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED) Turner syndrome Baronio F, Mazzanti L, Girtler The Influence of GH Treatment on J Clin Endocrinol Metab 2017 6,310 Y, Tamburrino F, Lupi F, Glucose Homeostasis in Girls With 102:878-883. Longhi S, Fanolla A, Radetti G. Turner: A 7-Year Study.

SIADH Tuli G, Tessaris D, De Sanctis Tolvaptan utilization in children with J Clin Res Pediatr 2017 1,568 L, Matarazzo P. chronic hyponatremia due to Endocrinol. 2017 May 17. inappropriate antidiuretic hormone doi: 10.4274/jcrpe.4531 secretion (SIADH). Three case reports and review of the literature.

Prader-Willi syndrome Cimolin V, Cau N, Galli M, Gait initiation and termination J Neuroeng Rehabil 14:44. 2017 2,419 Santovito C, Grugni G, strategies in patients with Prader- Capodaglio P. Willi syndrome. Precocious puberty Ferrito L, Cobellis G, Giobbi D, Peripheral Precocious Puberty due to J Pediatr Adolesc Gynecol 2017 1,605 Pannunzi CP, Iannilli Functioning Adrenocortical Tumor: 30:e1-e4 A, Cherubini V. Description of Two Cases.

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Thalassemia De Sanctis V, Soliman AT, Review and Recommendations on Mediterr J Hematol Infect 2017 0,000 Elsedfy H, Albu A, Al Jaouni S, Management of Adult Female Dis 9:e2017001. Anastasi S, Bisconte MG, Thalassemia Patients with Canatan D, Christou S, Daar S, Hypogonadism based on Literature Di Maio S, El Kholy M, Khater Review and Experience of ICET-A D, Elshinawy M, Kilinc Y, Network Specialists. Mattei R, Mosli HH, Quota A, Roberti MG, Sobti P, Yaarubi SA, Canpisi S, Kattamis C. Pompe disease Ortolano R, Baronio F, Letter to the Editors: Concerning Mol Genet Metab Rep 2017 0,000 Masetti R, Prete A, Cassio A, "Divergent clinical outcomes of 11:1. Pession A. alphaglucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre- symptomatic state" by Takashi M et al. Chromosomal disorder Paganelli V, Giordano M, An intragenic deletion SAGE Open Med Case Rep 2017 0,000 Meazza C, Schena L, Bozzola within CTNNA2 intron 7 in a boy with 5:2050313X17693967. M short stature and speech delay: A case report.

Prader-Willi syndrome Mele C, Grugni G, Mai S, Circulating angiopoietin-like 8 Sci Rep. 2017 7: 3186; 2017 5,228 Vietti R, Aimaretti G, Scacchi (ANGPTL8) is a marker of liver DOI:10.1038/s41598-017- M, Marzullo P steatosis and is negatively regulated 03538-7 by Prader-Willi Syndrome

Congenital adrenal Scaramuzzo RT, Menabò S, Two Moroccan Sisters Presenting Sex Dev 11:82-85. 2017 2,164 hyperplasia Baldazzi L, Moscuzza F, Saba with a Severe Salt-Wasting Form of A, Balsamo A, Boldrini Congenital Adrenal Hyperplasia but A, Ghirri P. Normal Female Genitalia.

Achondroplasia Zaffanello M, Cantalupo G, Sleep disordered breathing in World J Pediatr 13:8-14 2017 0,000 Piacentini G, Gasperi E, Nosetti children with achondroplasia. L, Cavarzere P, Ramaroli DA, Mittal A, Antoniazzi F.

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Trial clinici farmacologici

1 2 3 4 5 6 7 8

Nome MR Sponsor Partners Ruolo Denominazione del trial Farmaco Durata Note

I N C P C T (anno)

OTZUKA X X Studio randomizzato X 2018 UOC di Iposodiemia cronica multicentrico in aperto di Endocrinologia, (ipoaldosteronismo, 156-08-276 fase 3b sugli effetti della DPUO, Ospedale Pseudoipoaldosteronismo (Tolvactan) sospensione di SAMSCAm Pediatrico Bambino e altre cause secondarie (Tolvaptan) titolato sul sodio Gesù,IRCCS, Roma

IPSEN X X X UOC di European IncrelexÒ Endocrinologia, 2 79 52800 Sindrome di Laron (mecasermin [rDNA origin] DPUO, Ospedale 002 (Increlex) injection) growth forum Pediatrico Bambino database: Gesù,IRCCS, Roma

Un. Rotterdam X X X 2018 UOC di Trattamento con analogo Endocrinologia, Sindrome di Allan- ormone T3 (TRIAC) in DPUO, Ospedale Herndon-Dudley pazienti con mutazione Pediatrico Bambino dell'MTC8 MCT-8-2014-1 Gesù,IRCCS, Roma

Pharmaelle X X Approccio nutrizionale X UOC di innovativo al trattamento Endocrinologia, X-linked dell’adrenoleucodistrofia X - DPUO, Ospedale Adrenoleucodistrofia Linked Pediatrico Bambino ALDIXYL Gesù,IRCCS, Roma

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Sindrome di Prader-Willi Alizè Pharma X X A Phase IIa, randomized, AZP-531 X (2016) 1) Divisione di double-blind, placebo- Auxologia - IRCCS controlled, multi-center Ospedale S. study to evaluate the safety, Giuseppe di tolerability, and effects of Piancavallo, Istituto AZP-531, an Unacylated Auxologico Italiano, Ghrelin analog, on food- Verbania (VB) related behavior in patients 2) Struttura with Prader-Willi Syndrome Semplice di Patologia Endocrina Autoimmune – UOC di Endocrinologia e Diabetologia - Ospedale Pediatrico Bambino Gesù, IRCCS Palidoro (Roma)

T1D Horizon 2020 X INNODIA IL-2 X Cattedra di Pediatria, Università di Chieti

Deficit GH OPKO X GH Treatment Long Acting X Cattedra di GH Pediatria, Università di Chieti

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Partecipazione Nazionale a Endo-ERN 1Graziano Grugni, 2Marco Cappa, 3Antonio Balsamo 1Divisione di AuxologiaIRCCS Ospedale S. Giuseppe Istituto Auxologico ItalianoPiancavallo di Oggebbio (VB) 2Head of Endocrinology and Diabetic Unit Bambino Gesù Children's Hospital, IRCCS Rome 3 AOU Sant’Orsola Malpighi, Department of Medical and Surgical Sciences; Pediatric Unit - Endocrinology Program, Bologna

Il 1° bando per la partecipazione agli European Reference Networks avere al suo interno la possibilità di assistere le persone dall’età (ERNs) per le malattie rare è stato lanciato nel marzo del 2016. La pediatrica fino all’età adulta, dedicarsi ad attività di ricerca e prima Assemblea Generale (GA) della Rete di Riferimento Europea provvedere alla formazione ed aggiornamento dei professionisti che sulle Condizioni Endocrine Rare (Endo-ERN) si è svolta il 27 marzo lavorano al suo interno. Caratteristica innovativa e caratterizzante è il 2017 a Leiden, in Olanda. Settanta dei 71 Coordinatori che coinvolgimento di rappresentanti di “Pazienti” e Gruppi di Supporto. rappresentano i Centri Europei delle Strutture Ospedaliero- Endo-ERN ha attivato 8 Principali Gruppi Tematici (MTGs: Main Universitarie (HCPs: Health Care Providers) attualmente parte di Thematic Groups), che riguardano tutto lo spettro delle condizioni Endo-ERN, hanno partecipato all’assemblea. Dieci di questi Centri endocrinologiche rare o ad esse correlabili: Surrene (MTG1), rappresentavano HCPs Italiani, con sede a Bologna (AOU S.Orsola- Alterazioni dell’equilibrio calcio-fosforo (MTG2), Alterazioni Malpighi), Firenze (2; AOU Careggi; Ospedale Meyer), Genova (IRCCS genetiche dell’equilibrio glucosio-insulina (MTG3), Sindromi da S.Martino), Milano (2; IRCCS Auxologico; Ospedale S.Raffaele), Napoli tumori endocrini genetici (MTG4), Crescita e sindromi con obesità AOU Federico II), Padova (AOU Padova), Pisa (AOU Pisana), Torino genetiche (MTG5), Ipofisi (MTG6), Sviluppo e maturazione sessuale (AOU Città della salute e della Scienza). Nel corso dell’assemblea è (MTG7), Tiroide (MTG8). In ognuno degli 8 MTG sono stati individuati emerso il ruolo importante rivestito dall’Italia, i cui Centri sono alcuni sottotemi di interesse (es. MTG6 Ipofisi: sottotemi: 1) presenti complessivamente in tutte le otto aree tematiche della rete. adenoma ipofisario; 2) ipopituitarismo congenito e 3) ipopituitarismo Dei 10 HCP presenti, 4 sono stati rappresentati ufficialmente da un acquisito) e 5 “pacchetti di lavoro” (WPs: Work Packages) che coordinatore di area pediatrica (Bologna-S.Orsola-Malpighi, Firenze- riguardano: Istruzione & Insegnamento (WP1); Tele-Medicina & Meyer, Milano-S.Raffaele, Padova-A.O.U.- Pediatria). L’Italia con Interfacce di comunicazione/interazione (WP2); Ricerca & Scienza l’Olanda e la Francia si sono organizzati con un coordinatore (WP3); Qualità dell’assistenza & punto di vista del paziente (WP4); nazionale (Annamaria Colao per l’area Adulti e Marco Cappa per Diagnostica & indagini di Laboratorio (WP5). Ogni Centro accreditato l’area pediatrica). per lo specifico MTG, può scegliere a quale sottotema e WP partecipare attivamente. Un “Centro di riferimento” per le malattie rare deve prevedere un Gruppo coordinato multidisciplinare con personale sanitario esperto In base ad una indagine conoscitiva preliminare della SIEDP, la e competente per il trattamento di queste condizioni. Il Centro deve totalità dei Centri di riferimento endocrinologici pediatrici accreditati 254 dal Ministero Italiano della Salute appartengano ad HCPs richieste/accreditate e i pacchetti di lavoro (WP) opzionati dai singoli rappresentate da soci SIEDP. La fotografia attuale dei centri Nazionali Centri (quando segnalati), sono riportate nella Tabella: inclusi nella rete Europea Endo-ERN, con le rispettive aree tematiche

Tabella:

HCPs Ambito MTG 1 MTG 2 MTG3 MTG4 MTG5 MTG6 MTG7 MTG8 AOU Bologna P (UO Ped) SI (WP1-5) NR SI (WP nd) SI (WP nd) SI (WP 1,4) SI (WP1-5) SI (WP 1-5) SI (WP1,4) S.Orsola-Malpighi A (UO Endo) SI (WP1-5) NR SI (WP nd) SI (WP nd) SI (WP 1-5) SI (WP1-5) SI (WP 1-5) SI (no WP) AOU Firenze P (Meyer) NR NR SI (WP1,5) NR NR NR NR NR Careggi A (UO Endo) NR SI (WP nd) NR SI (WP nd) NR NR SI (WP nd) NR AOU Genova P (Gaslini) SI Endorsement Nazionale 2a call Europea ERN IRCCS S.Martino A (S.Martino) NR NR NR NR NR SI (WP1-5) NR NR AOU Milano P (HS.Raffaele) SI (WP nd) SI (WP nd) NR SI (WP nd) SI (WP nd) SI (WP nd) SI (WP1-5) SI (WP nd) A (I. Auxologico) SI (WP nd) SI (WP nd) NR SI (WP 1-5) SI (WP1-5) SI (WP1-5) SI (WP1-5) SI (WP nd) AOU Napoli P (UO Ped) SI (WP nd) SI (WP nd) SI (WP nd) SI (WP nd) SI (WP nd) SI (WP nd) SI (WP nd) SI (WP nd) Federico II A (UO Endo) SI (WP nd) SI (WP nd) SI (WP nd) SI (WP nd) SI (WP nd) SI (WP nd) SI (WP nd) SI (WP nd) AOU Padova P (US Ped) SI (WP1-5) SI (WP nd) NR SI (WP1-5) SI (WP1-5) SI WP1-5) SI (WP 1-5) SI (WP 1,2,5) A (UO Endo) SI (WP1-5) SI (WP nd) SI (WP nd) SI (WP1-5) SI (WP1-5) SI (WP1-5) SI (WP 1-5) SI (WP 1,2,5) AOU Pisa P (UO Ped) 2a call Europea ERN A (UO Endo) NR NR SI (WP1,3) NR NR NR NR NR AOU ROMA P (Bambin Gesù) SI Endorsement Nazionale 2a call Europea ERN A (Sapienza UO En) 2a call Europea ERN AOU Torino P (R. Margherita) SI Endorsement Nazionale 2a call Europea ERN Città Sal.& Sc. A (UO Endo) SI (WP1-4) NR SI (WP nd) SI (WG nd) NR SI (WP1-4) NR SI(WP 5) P: Endocrinologia Pediatrica; A: Endocrinologia Adulto; SI: accettato; NR: Non Richiesto; nd: non definiti/comunicati;

Secondo quanto dichiarato dal coordinatore dell’ENDO-ERN è verosimile che entro il 2017 sarà possibile riaprire il Bando per i centri che hanno ricevuto l’endorsement ministeriale ma ancora non figurano ufficialmente della rete.

Vi è grande attenzione per i registri di patologia e vi è la prospettiva di sviluppare registri Europei più avanzati e condivisibili.

Auspichiamo che il contributo della nostra Società, insieme a tutte le altre con le quali vi sono interessi comuni, possa contribuire al successo di questa sfida sanitaria Europea. Tutte le informazioni e la documentazione relativa all’iter di approvazione di ENDO-ERN sono disponibili sul sito www.endo- ern.eu. 255

Malattie rare in età pediatrica: Ricerca, farmaci orfani e reti europee di riferimento

Malattie metaboliche ereditarie A cura della Società Italiana per lo studio delle malattie Metaboliche Ereditarie e lo Screening Neonatale - SIMMESN (Presidente: Carlo Dionisi Vici)

Daniela Concolino Carlo Dionisi Vici Francesco Porta

256

Pubblicazioni Attività di ricerca relative alle malattie rare pediatriche, svolte da centri italiani, nel settore specialistico Malattie Metaboliche, SIMMESN

Daniela Concolino Università Magna Graecia di Catanzaro, Centro Pediatria Genetica e Malattie rare

La comunità scientifica della SIMMESN - composta da pediatri, biologi, pubblicazione, il 43.5 % è costituito da malattie lisosomiali e, nell'ambito di biochiomici, dietisti, psicologi, ecc. - è costituita da 170 soci afferenti a 40 queste, la Malattia di Fabry è risultata la più frequentemente riportata. Centri clinici o laboratoristici distribuiti su tutto il territorio nazionale. Per il Sono state valutate le istituzioni con maggior numero di lavori pubblicati e forum SIRP è stata analizzata l'attività di ricerca negli anni 2014-17, in cui il non sempre è stata riscontrata una correlazione tra il numero dei lavori ed socio SIMMESN ha svolto un ruolo leader nei seguenti 3 ambiti: IF complessivo/medio. I gruppi più rappresentativi sono risultati essere gli PRODUZIONE SCIENTIFICA ospedali pediatrici ed i grandi Dipartimenti di Pediatria. Dai lavori censiti Nel periodo gennaio 2014 - giugno 2017 sono stati prodotti 189 articoli, sia emerge una chiara tendenza alla collaborazione tra i diversi centri Italiani di ricerca clinica che di ricerca di base. Gli articoli sono stati censiti tramite con frequente riscontro di co-authorship da soci provenienti da diverse PubMed e sono stati analizzati solo quelli dove il socio è risultato essere strutture. Questo punto, che documenta l'esistenza di un network italiano primo/ultimo autore o "corresponding author". La produzione scientifica nell’ambito della SIMMESN, rappresenta un elemento portante del nel periodo di osservazione ha coinvolto 26 gruppi di ricerca afferenti a 21 contributo scientifico italiano al settore delle malattie metaboliche. strutture Universitarie o Ospedaliere. Dall'analisi dei dati è emersa una È stata inoltre valutata la partecipazione dei soci SIMMESN alla produzione correlazione tra il numero di soci afferenti allo stesso gruppo di ricerca ed il di linee guida internazionali e/o consensus conference: 8 linee guida numero di lavori prodotti. Dei 189 lavori selezionati, 156 (83 %) sono stati internazionali pubblicate su importanti riviste (range di IF 3,08-16,321) pubblicati su riviste con IF mentre i restanti 33 (17 % ) sono stati pubblicati aventi come oggetto errori congeniti della rimetilazione, deficit di su riviste censite da PubMed ma senza IF. l'IF complessivo nel periodo di cistationina beta-sintetasi (omocistinuria classica), galattosemia, osservazione è stato di 541.528 (media di 3.47 ± 1.81), mediana di 3.093, fenilchetonuria, glutarico aciduria tipo I, metilmalonico e propionico range 0.899-12.047. acidemia, e deficit di sfingomielinasi acida hanno avuto almeno 1 L'andamento temporale della produzione scientifica e dell'IF/anno ha socio/coautore tra gli "opinion leader". mostrato una tendenziale deflessione del numero dei lavori/anno: 64 nel La co-authorship dei soci SIMMESN a pubblicazioni aventi come 2014, 53 nel 2015, 46 nel 2016 e 26 nei primi 5 mesi del 2017. Per verificare primo/ultimo autore o "corresponding authors" ricercatori italiani non-soci l’impatto dei lavori selezionati è stato valutato il numero delle citazioni SIMMESN è risultata rilevante, soprattutto nell’ambito delle malattie tramite Scopus. Relativamente alle pubblicazioni 2014 non è stata rilevata lisosomiali, malattie mitocondriali, deficit di Alfa 1- antitripsina, terapia alcuna correlazione tra l'IF e numero di citazioni. Le prime 18 riviste genica, malattie mitocondriali, sviluppo di metodologie per terapie scientifiche nelle quali sono stati pubblicati i lavori coprono il 46% della intratecale, trapianti di cellule staminali, metodologie di screening produzione globale. Relativamente alle malattie metaboliche oggetto di neonatali.

257

Pubblicazioni

Division of Metabolism - Bambino Gesù Children's Hospital, Rome , Italy. 1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Ipertrigliceridemia Dionisi-Vici C, Shteyer E, Niceta M, Expanding the molecular diversity J Inherit Metab Dis. 2016 3.541 infantile transitoria Rizzo C, Pode-Shakked B, Chillemi G, and phenotypic spectrum of Sep;39(5):689-95. Bruselles A, Semeraro M, Barel O, glycerol 3-phosphate Eyal E, Kol N, Haberman Y, Lahad A, dehydrogenase 1 deficiency Diomedi-Camassei F, Marek-Yagel D, Rechavi G, Tartaglia M, Anikster Y. Malattie Semeraro M, Rizzo C, Boenzi S, A new multiplex method for the Clin Chim Acta. Jul 2016 2.799 Perossisomiali Cappa M, Bertini E, Antonetti G, diagnosis of peroxisomal disorders 1;458:159-64 Dionisi-Vici C. allowing simultaneous determination of plasma very-long- chain fatty acids, phytanic,pristanic,docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pressure chemical ionization- tandem mass spectrometry. Encefalopatia Dionisi-Vici C, Diodato D, Torre G, Liver transplant in ethylmalonic Brain. 2016 10.103 Etilmalonico Picca S, Pariante R, Giuseppe encephalopathy: a new treatment Apr;139(Pt4):1045-51. Picardo S, Di Meo I, Rizzo C, Tiranti for an otherwise fatal disease. V, Zeviani M, De Ville De Goyet J Metabolismo Boenzi S, Deodato F, Taurisano R, Evaluation of plasma cholestane- J Lipid Res. 2016 4.368 colesterolo Goffredo BM, Rizzo C, Dionisi-Vici C. 3β,5α,6β-triol and 7-ketocholesterol Mar;57(3):361-7. in inherited disorders related to cholesterol metabolism

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Galattosemia Martinelli D, Bernardi B, Napolitano Teaching NeuroImages: Galactitol Neurology Jan 2016 8.166 A, Colafati GS, Dionisi-Vici C. peak and fatal cerebral edema in 19;86(3):e32-3 classic galactosemia: Too much sugar in the brain. Iperinsulinismo Maiorana A, Manganozzi L, Barbetti Ketogenic diet in a patient with Orphanet J Rare Dis. Sep 2015 3.290 F, Bernabei S, Gallo G, Cusmai R, congenital hyperinsulinism: a novel 24;10:120. Caviglia S, Dionisi-Vici C. approach to prevent brain damage. Sindrome HHH Martinelli D, Diodato D, Ponzi E, The hyperornithinemia- Orphanet J Rare Dis. Mar 2015 3.290 Monné M, Boenzi S, Bertini E, hyperammonemia-homocitrullinuria 11;10:29 Fiermonte G, Dionisi-Vici C syndrome. Iperinsulinismo Maiorana A, Barbetti F, Boiani A, Focal congenital hyperinsulinism Clin Endocrinol (Oxf). 2014 3.487 Rufini V, Pizzoferro M, Francalanci managed by medical treatment: a Nov;81(5):679-88 P, Faletra F, Nichols CG, Grimaldi C, diagnostic algorithm based on de Ville de Goyet J, Rahier J, molecular genetic screening. Henquin JC, Dionisi-Vici C. Tirosinemia Maiorana A, Malamisura M, Emma Early effect of NTBC on renal tubular Mol Genet Metab. 2014 3.093 F, Boenzi S, Di Ciommo VM, dysfunction in hereditary Nov;113(3):188-93. Dionisi-Vici C. tyrosinemia type 1 Difetti di CblC Fischer S, Huemer M, Baumgartner Clinical presentation and outcome in J Inherit Metab Dis. 2014 3.365 M, Deodato F, Ballhausen D, Boneh a series of 88 patients with the cblC Sep;37(5):831-40. A, Burlina AB, Cerone R, Garcia P, defect. Gökçay G, Grünewald S, Häberle J, Jaeken J, Ketteridge D, Lindner M, Mandel H, Martinelli D, Martins EG, Schwab KO, Gruenert SC, Schwahn BC, Sztriha L, Tomaske M, Trefz F, Vilarinho L, Rosenblatt DS, Fowler B, Dionisi-Vici C.

259 dihydrolipoamide Carrozzo R, Torraco A, Fiermonte Riboflavin responsive mitochondrial Mitochondrion.Sep;18:49- 2014 3.249 dehydrogenase G, Martinelli D, Di Nottia M, Rizza myopathy is a new phenotype of 57. deficiency T, Vozza A, Verrigni D, Diodato D, dihydrolipoamide dehydrogenase Parisi G, Maiorana A, Rizzo C, Pierri deficiency. The chaperon-like effect CL, Zucano S, Piemonte F, Bertini of vitamin B2. E, Dionisi-Vici C. Deficit di tiamina Maiorana A, Vergine G, Coletti V, Acute thiamine deficiency and Nutrition Jul-Aug;30(7- 2014 2.839 Luciani M, Rizzo C, Emma F, refeeding syndrome: Similar findings 8):948-52. Dionisi-Vici C. but different pathogenesis. Malattia lisosomiale Deodato F, Ginocchio VM, Onofri Immune tolerance induced using J Child Neurol. 2014 1.717 Malattia di Pompe A, Grutter G, Germani A, Dionisi- plasma exchange and rituximab in an Jun;29(6):850-4. Vici C. infantile Pompe disease patient. Metabolismo del Martinelli D, Dionisi-Vici C. AP1S1 defect causing MEDNIK Ann N Y Acad Sci. 2014 4.518 rame syndrome: a new adaptinopathy May;1314:55-63. associated with defective copper metabolism Malattia Catteruccia M, Verrigni D, Persistent pulmonary arterial Mol Genet Metab. 2014 3.093 mitocondriale Martinelli D, Torraco A, Agovino T, hypertension in the newborn Mar;111(3):353-9. Bonafé L, D'Amico A, Donati MA, (PPHN): a frequent manifestation of Adorisio R, Santorelli FM, Carrozzo TMEM70 defective patients. R, Bertini E, Dionisi-Vici C Organicoaciduria Rizzo C, Boenzi S, Inglese R, la Measurement of succinyl-carnitine Clin Chim Acta. Feb 2014 2.824 Marca G, Muraca M, Martinez TB, and methylmalonyl-carnitine on 15;429:30-3. Johnson DW, Zelli E, Dionisi-Vici C. dried blood spot by liquid chromatography-tandem mass spectrometry. Difetti di CblC Pastore A, Martinelli D, Piemonte Glutathione metabolism in J Inherit Metab 2014 3.365 F, Tozzi G, Boenzi S, Di cobalamin deficiency type C (cblC). Dis.Jan;37(1):125-9. Giovamberardino G, Petrillo S, Bertini E, Dionisi-Vici C.

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NPC Boenzi S, Deodato F, Taurisano R, A new simple and rapid LC-ESI- Clin Chim Acta. Nov 2014 2.824 Martinelli D, Verrigni D, Carrozzo MS/MS method for quantification of 1;437:93-100. R, Bertini E, Pastore A, Dionisi-Vici plasma oxysterols as C, Johnson DW. dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease. Malattia lisosomiale Taurisano R, Maiorana A, De Wolman disease associated with Eur J Pediatr. 2014 1.791 Deficit lipasi acida Benedetti F, Dionisi-Vici C, Boldrini hemophagocytic Oct;173(10):1391-4 R, Deodato F. lymphohistiocytosis: attempts for an explanation. Malattia lisosomiale Taurisano R, D'Amico A, Colafati Long-Term Follow-Up of Two Siblings J Neuromuscul 2015 / GS, Pichiecchio A, Catteruccia M, with a Non-Classic Infantile Variant Dis.2(s1):S70-S71 Malattia di Pompe Bertini E, Dionisi-Vici C, Deodato F. Form of Pompe Disease. Ricerca di base Semeraro M, Muraca M, Catesini Determination of plasma pipecolic Clin Chim Acta. Feb 2015 2,799 G, Inglese R, Iacovone F, Barraco acid by an easy and rapid liquid 2;440:108-12. GM, Manco M, Boenzi S, Dionisi- chromatography-tandem mass Vici C, Rizzo C. spectrometry method. Malattia lisosomiale Deodato F, Procopio E, Rampazzo The treatment of juvenile/adult Metab Brain Dis. Jun 3. 2017 2.063 Gangliosidosi GM1 A, Taurisano R, Donati MA, Dionisi- GM1-gangliosidosis with Miglustat Vici C, Caciotti A, Morrone A, may reverse disease progression. Scarpa M.

Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening Regione Veneto, Department of Pediatrics, University Hospital, Padova, Italy. 1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Galattosemia Viggiano E, Marabotti A, Politano Galactose-1-Phosphate Clin Genet. Apr 4. 2017 3.892 L, Burlina A. Uridyltransferase deficiency: a literature review of the putative mechanisms of short and long-term complications and allelic variants.

261

Sfingolipidosi Polo G, Burlina AP, Kolamunnage Diagnosis of sphingolipidoses: a new EJIFCC. Mar 8;28(1):64 2017 / Base TB, Zampieri M, Dionisi-Vici C, simultaneous measurement of Strisciuglio P, Zaninotto M, Plebani lysosphingolipids by LC-MS/MS. M, Burlina AB. Difetti Burlina AB, Celato A, Polo G, Edini The Utility of CSF for the Diagnosis of EJIFCC. Mar 8;28(1):64 2017 / neurotrasmettitori C, Burlina AP. Primary and Secondary Monoamine Neurotransmitter Deficiencies. Organicoacidurie Burlina A, Cazzorla C, Zanonato E, Clinical experience with N- Mol Genet Metab Rep. Jul 2016 / Viggiano E, Fasan I, Polo G. carbamylglutamate in a single-centre 13;8:34-40. cohort of patients with propionic and methylmalonic aciduria. Organicoacidurie Del Rizzo M, Galderisi A, Celato A, The long-term treatment of a patient Eur J Pediatr 2016 1.791 Furlan F, Giordano L, Cazzorla C, with type 1 diabetes mellitus and Aug;175(8):1123-8. Fasan I, Moretti C, Zschocke J, glutaric aciduria type 1: the effect of Burlina AB. insulin. NPC Polo G, Burlina A, Furlan F, High level of oxysterols in neonatal Clin Chem Lab Med. Jul 2016 3.017 Kolamunnage T, Cananzi M, cholestasis: a pitfall in analysis of 1;54(7):1221-9. Giordano L, Zaninotto M, Plebani biochemical markers for Niemann- M, Burlina A. Pick type C disease. Screening neonatale Burlina AB, Corsello G. Survey of Italian pediatricians' Ital J Pediatr. May 2015 1.614 perspectives and knowledge about 29;41:41 neonatal screening. Galattosemia Viggiano E, Marabotti A, Burlina Clinical and molecular spectra in Gene. Apr 1;559(2):112-8 2015 2.319 AP, Cazzorla C, D'Apice MR, galactosemic patients from neonatal Giordano L, Fasan I, Novelli G, screening in northeastern Italy: Facchiano A, Burlina AB. structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene. PKU Cazzorla C, Cegolon L, Burlina AP, Quality of Life (QoL) assessment in a BMC Public Health Dec 2014 2.264 Celato A, Massa P, Giordano L, cohort of patients with 4;14:1243. Polo G, Daniele A, Salvatore F, phenylketonuria. Burlina AB.

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Neurological Unit (A.B.), St. Bassiano Hospital, Bassano del Grappa, Italy.

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Malattia lisosomiale Manara R, Carlier RY, Righetto S, Basilar Artery Changes in Fabry AJNR Am J Neuroradiol. 2017 3.124 Malattia di Fabry Citton V, Locatelli G, Colas F, Disease. Mar;38(3):531-536 Ermani M, Germain DP, Burlina A. Malattia lisosomiale Politei JM, Bouhassira D, Germain Pain in Fabry Disease: Practical CNS Neurosci 2016 4.019 Malattia di Fabry DP, Goizet C, Guerrero-Sola A, Hilz Recommendations for Diagnosis and Ther.Jul;22(7):568-76. MJ, Hutton EJ, Karaa A, Liguori R, Treatment. Üçeyler N, Zeltzer LK, Burlina A. Malattia lisosomiale Kolodny E, Fellgiebel A, Hilz MJ, Cerebrovascular involvement in Stroke. 2015 2015 5.787 Malattia di Fabry Sims K, Caruso P, Phan TG, Politei Fabry disease: current status of Jan;46(1):302-13. J, Manara R, Burlina A. knowledge. NPC Burlina A. Niemann-Pick disease type C: J Neurol. 2014 Sep;261 2014 3.408 introduction and main clinical Suppl 2:S525-7. features.

Rare Diseases Unit, Istituto Giannina Gaslini, Genoa, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Malattia Minoia F, Bertamino M, Picco P, Widening the Heterogeneity of Leigh JIMD Rep. Mar 1. 2017 / mitocondriale Severino M, Rossi A, Fiorillo C, Syndrome: Clinical, Biochemical, and Sindrome di Leigh Minetti C, Nesti C, Santorelli Neuroradiologic Features in a FM, Di Rocco M. Patient Harboring a NDUFA10 Mutation. Malattia lisosomiale Madeo A, Garaventa A, Sementa The unusual association between Blood Cells Mol Dis. Nov 2016 2.731 Malattia di Gaucher AR, Suffia C, Di Rocco M. Neuroblastoma and Gaucher 23. pii: S1079- Disease:ase report and review of the 9796(16)30184-X. literature. Malattia lisosomiale Pichiecchio A, Rossi M, Cinnante C, Muscle MRI of classic infantile Muscle Nerve. Sep 26 2016 2.713. 263

Malattia di Pompe Colafati GS, De Icco R, Parini R, pompe patients: Fatty substitution Menni F, Furlan F, Burlina A, and edema-like changes. Sacchini M, Donati MA, Fecarotta S, Casa RD, Deodato F, Taurisano R, Di Rocco M. Fibrodisplasia Severino M, Bertamino M, Tortora Novel asymptomatic CNS findings in J Med Genet. 2016 5.65 progressiva D, Morana G, Uccella S, Bocciardi patients with ACVR1/ALK2 mutations Dec;53(12):859-864 R, Ravazzolo R, Rossi A, Di Rocco causing fibrodysplasia ossificans M. progressiva. NPC Di Rocco M, Barone R, Madeo A, Miglustat Does Not Prevent Pediatr Neurol. 2015 1.866 Fiumara A. Neurological Involvement in Oct;53(4):e15 Niemann Pick C Disease. Fibrodisplasia Bertamino M, Severino M, New insights into central nervous Am J Med Genet A. 2015 2.082 progressiva Schiaffino MC, Garrè ML, Bocciardi system involvement in FOP: Case Nov;167A(11):2817-21. R, Ravazzolo R, Rossi A, Di Rocco report and review of the literature. M. Malattia lisosomiale Di Rocco M, Andria G, Deodato F, Early diagnosis of Gaucher disease in Pediatr Blood Cancer. 2014 2.634 Malattia di Gaucher Giona F, Micalizzi C, Pession A. pediatric patients: proposal for a Nov;61(11):1905-9. diagnostic algorithm. Glicogenosi Sechi A, Deroma L, Paci S, Lapolla Quality of life in adult patients with JIMD Rep. 14:47-53. 2014 / A, Carubbi F, Burlina A, Rigoldi glycogen storage disease type I: M, Di Rocco M. results of a multicenter italian study. Pelizaeus- Biancheri R, Grossi S, Regis S, Rossi Further genotype-phenotype Clin Genet. 85:267-72. 2014 3.892 Merzbacher A, Corsolini F, Rossi DP, Cavalli P, correlation emerging from two Severino M, Filocamo M families with PLP1 exon 4 skipping Metachromatic Siri L, Rossi A, Lanza F, Mazzotti R, A novel homozygous splicing Neurogenetics. 15:101- 2014 3.426 leukodystrophy Costa A, Stroppiano M, Gaiero A, mutation in PSAP gene causes 106 Cohen A, Biancheri R, Filocamo M. metachromatic leukodystrophy in two Moroccan brothers. Gaucher disease Stroppiano M, Calevo MG, Validity of β-d-glucosidase activity Clin Biochem. 47:1293-6. 2014 2.382 Corsolini F, Cassanello M, measured in dried blood samples for Cassinerio E, Lanza F, Stroppiana detection of potential Gaucher G, Cappellini MD, Filocamo M. disease patients.

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Biobanca Filocamo M, Mazzotti R, Corsolini Cell Line and DNA Biobank From Open Journal of 2014 0 (> 200 malattie rare F, Stroppiano M, Stroppiana G, Patients Affected by Genetic Bioresources, 1: e2, DOI del metabolismo) Grossi S, Lualdi S, Tappino B, Lanza Diseases. F, Galotto S and Biancheri R Mucolipidosis IV Mirabelli-Badenier M, Severino M, A novel homozygous MCOLN1 Metab Brain Dis. 30:681- 2015 2.6 Tappino B, Tortora D, Camia F, double mutant allele leading to TRP 6. Zanaboni C, Brera F, Priolo E, Rossi channel domain ablation underlies A, Biancheri R, Di Rocco M, Mucolipidosis IV in an Italian Child. Filocamo M. Varie malattie rare Baldo C, Casareto L, Renieri A, The alliance between genetic OJRD 11:142. 2016 3.290 Merla G, Garavaglia B, Goldwurm biobanks and patient organisations: S, Pegoraro E, Moggio M, Mora M, the experience of the Telethon Politano L, Sangiorgi L, Mazzotti R, Network of Genetic Biobanks. Viotti V, Meloni I, Pellico MT, Barzaghi C, Chiuhui Mary Wang CM, Monaco L and Filocamo M. Gaucher disease Amico G, Grossi S, Vijzelaar R, MLPA-Based Approach for Initial and Mol Genet Metab. 119: 2016 3.093 Lanza F, Mazzotti R, Corsolini F, Simultaneous Detection of GBA 329–337 Ketemab M, Filocamo M. Deletions and Recombinant Alleles in Patients Affected by Gaucher Disease.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine. P.le Santa Maria della Misericordia 15, 33100, Udine, Italy.

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Malattia Lisosomiale Sechi A, Dardis A, Bembi B. Profile of eliglustat tartrate in the Ther Clin Risk Manag. Jan 2016 1.903 Malattia di Gaucher management of Gaucher disease. 11;12:53-8.. Deficit α lipoproteina Sechi A, Dardis A, Zampieri S, Effects of miglustat treatment in a Orphanet J Rare Dis. Sep 2014 3.358 Rabacchi C, Zanoni P, Calandra S, patient affected by an atypical form 18;9:143. De Maglio G, Pizzolitto S, Maruotti of Tangier disease. V, Di Muzio A, Platt F, Bembi B.

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Malattia Lisosomiale Sechi A, Deroma L, Dardis A, Ciana Long term effects of enzyme Mol Genet Metab. 2014 2.625 Malattia di Gaucher G, Bertin N, Concolino D, Linari S, replacement therapy in an Italian Nov;113(3):2138 Perria C, Bembi B cohort of type 3 Gaucher patients. Malattia Lisosomiale Sechi A, Nucifora G, Piccoli G, Myocardial fibrosis as the first sign BMC Cardiovasc Disord. 2014 1.5 Malattia di Fabry Dardis A, Bembi B. of cardiac involvement in a male Jul 16;14:86. patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology. Malattia lisosomiale Dardis A, Zampieri S, Canterini S, Altered localization and functionality Acta Neuropathol 2016 / NPC Newell KL, Stuani C, Murrell JR, of TAR DNA Binding Protein 43 (TDP- Commun. May 18;4(1):52. Ghetti B, Fiorenza MT, Bembi B, 43) in niemann- pick disease type C. Buratti E. Malattia lisosomiale Romanello M, Zampieri S, Comprehensive Evaluation of Plasma Clin Chim Acta. Apr 2016 2.799 NPC Bortolotti N, Deroma L, Sechi A, 7-Ketocholesterol and Cholestan- 1;455:39-45. Fiumara A, Parini R, Borroni B, 3β,5α,6β-Triol in an Italian Cohort of Brancati F, Bruni A, Russo CV, Patients Affected by Niemann-Pick Bordugo A, Bembi B, Dardis A. Disease due to NPC1 and SMPD1 Mutations. Malattia lisosomiale Zampieri S, Filocamo M, Pianta A, SMPD1 Mutation Update: Database Hum Mutat. 2016 5.089 Deficit Lualdi S, Gort L, Coll MJ, Sinnott R, and Comprehensive Analysis of Feb;37(2):139-47. sfingomielinasi Geberhiwot T, Bembi B, Dardis A. Published and Novel Variants. Malattia lisosomiale Malini E, Zampieri S, Deganuto M, Role of LIMP-2 in the intracellular FASEB J. Sep;29(9):3839- 2015 5.299 Romanello M, Sechi A, Bembi trafficking of β-glucosidase in 52 B, Dardis A. different human cellular models. Malattia lisosomiale Zampieri S, Bianchi E, Cantile C, Characterization of a spontaneous PLoS One. Nov 2014 3.234. NPC Saleri R, Bembi B, Dardis A. novel mutation in the NPC2 gene in a 14;9(11):e112503. cat affected by Niemann Pick type C disease. Malattia lisosomiale Dardis A, Zanin I, Zampieri S, Functional characterization of the Nucleic Acids 2014 9.112 Stuani C, Pianta A, Romanello M, common c.-32-13T>G mutation of Res.Jan;42(2):1291-302 Baralle FE, Bembi B, Buratti E. GAA gene: identification of potential therapeutic agents.

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Malattia lisosomiale Malini E, Grossi S, Deganuto M, Functional analysis of 11 novel GBA Eur J Hum 2014 4.580 Rosano C, Parini R, Dominisini S, alleles. Genet.Apr;22(4):5116 Cariati R, Zampieri S, Bembi B, Filocamo M, Dardis A.

Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, Italy.

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

CDG Fiumara A, Barone R, Del Campo Early-Onset Epileptic Brain Dev. Apr;39(4):366- 2017 1.785 G, Striano P, Jaeken J. Encephalopathy in infants with 367 different forms of Congenital Disorders of Glycosylation (CDG). Malattia lisosomiale Giuffrida G, Lombardo R, Di Successful switch from enzyme J Med Case Rep. Nov 2016 / Malattia di Gaucher Francesco E, Parrinello L, Di replacement therapy to miglustat in 8;10(1):315. Raimondo F, Fiumara A. an adult patient with type 1 Gaucher disease: a case report. CDGs Fiumara A, Barone R, Del Campo Electroclinical Features of Early-Onset JIMD Rep. ;27:93-9 2016 / G, Striano P, Jaeken J. Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs). NPC Di Rocco M, Barone R, Madeo Miglustat Does Not Prevent Pediatr Neurol. 2015 1.866 A, Fiumara A. Neurological Involvement in Oct;53(4):e15. Niemann Pick C Disease. CDG Barone R, Carrozzi M, Parini R, A nationwide survey of PMM2-CDG J Neurol. Jan;262(1):154- 2015 3.408 Battini R, Martinelli D, Elia M, in Italy: high frequency of a mild 64. Spada M, Lilliu F, Ciana G, Burlina neurological variant associated with A, Leuzzi V, Leoni M, Sturiale L, the L32R mutation. Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A. Barone R, Fichera M, De Grandi M, Familial 18q12.2 deletion supports Am J Med Genet A. pr 13 2017 2.082 Battaglia M, Lo Faro V, Mattina T, the role of RNA-binding protein Rizzo R CELF4 in autism spectrum disorders.

267

Gangliosidosi GM2 Barone R, Sturiale L, Fiumara A, CSF N-glycan profile reveals Autism Res. Apr;9(4):423- 2016 3.048 Palmigiano A, Bua RO, Rizzo R, sialylation deficiency in a patient 8. Zappia M, Garozzo D. with GM2 gangliosidosis presenting as childhood disintegrative disorder. CDG Barone R, Fiumara A, Jaeken J. Congenital disorders of glycosylation Semin Neurol. 2014 1.838 with emphasis on cerebellar Jul;34(3):357-66. involvement.

Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Florence, Italy./ Department of Experimental and Clinical Biomedical Sciences, Head, Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's Hospital, Florence, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Malattia lisosomiale Ferri L, Covello G, Caciotti A, Double-target Antisense U1snRNAs Mol Ther Nucleic Acids. 2016 5.048 Malattia di Fabry Guerrini R, Denti MA, Morrone A.. Correct Mis-splicing Due to Oct 25;5(10):e380 c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations. Sindrome di Barth Ferri L, Donati MA, Funghini S, Intra-individual plasticity of the TAZ Eur J Hum Genet. 2015 4.58 Cavicchi C, Pensato V, Gellera C, gene leading to different heritable Dec;23(12):1708-12. Natacci F, Spaccini L, Gasperini S, mutations in siblings with Barth Vaz FM, Cooper DN, Guerrini syndrome. R, Morrone A. Malattia lisosomiale Caciotti A, Tonin R, Rigoldi M, Ferri Optimizing the molecular diagnosis Hum Mutat. 2015 5.089 MPS IV A L, Catarzi S, Cavicchi C, Procopio E, of GALNS: novel methods to define Mar;36(3):357-68 Donati MA, Ficcadenti A, Fiumara and characterize Morquio-A A, Barone R, Garavelli L, Rocco syndrome-associated mutations. MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A.

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Malattia lisosomiale Morrone A, Caciotti A, Atwood R, Morquio A syndrome-associated Hum Mutat. 2014 5.089 MPS IV A Davidson K, Du C, Francis-Lyon P, mutations: a review of alterations in Nov;35(11):1271-9. Harmatz P, Mealiffe M, Mooney S, the GALNS gene and a new locus- Oron TR, Ryles A, Zawadzki KA, specific database. Miller N. Difetti ciclo urea Cavicchi C, Donati M, Parini R, Sudden unexpected fatal Orphanet J Rare Dis. Jul 2014 3.290 OTC Rigoldi M, Bernardi M, Orfei F, encephalopathy in adults with OTC 16;9:105. Gentiloni Silveri N, Colasante A, gene mutations-Clues for early Funghini S, Catarzi S, Pasquini E, la diagnosis and timely treatment. Marca G, Mooney S, Guerrini R, Morrone A. Malattia lisosomiale Morrone A, Tylee KL, Al-Sayed M, Molecular testing of 163 patients Mol Genet Metab. 2014 3.093 MPS IV A Brusius-Facchin AC, Caciotti A, with Morquio A Jun;112(2):160-70 Church HJ, Coll MJ, Davidson K, (Mucopolysaccharidosis IVA) Fietz MJ, Gort L, Hegde M, Kubaski identifies 39 novel GALNS mutations. F, Lacerda L, Laranjeira F, Leistner- Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N. deficienza di Ferri L, Funghini S, Fioravanti A, Aminoacylase I deficiency due to Clin Genet. Oct;86(4):367- 2014 3.931 Aminoacilasi I Biondi EG, la Marca G, Guerrini R, ACY1 mRNA exon skipping. 72. (14) Donati MA, Morrone A. Malattia lisosomiale Sacchini M, Procopio E, Pasquini E, Alpha Glucosidase Assay on Dried J Neuromuscul Dis. 2015 / Malattia di Pompe Pochiero F, Ombrone D, LaMarca Blood Spot in the Early Diagnosis of 2(s1):S53. G, Catarzi S, Morrone A, Donati Infantile Pompe Disease. MA. Screening neonatale la Marca G, Giocaliere E, Malvagia Development and validation of a 2nd Clin Chem Lab Med. 2016 3.017 S, Villanelli F, Funghini S, Ombrone tier test for identification of purine Apr;54(4):627-32. D, Della Bona M, Forni G, Canessa nucleoside phosphorylase deficiency C, Ricci S, Romano F, Guerrini R, patients during expanded newborn Resti M, Azzari C. screening by liquid chromatography- tandem mass spectrometry. Screening neonatale Ombrone D, Giocaliere E, Forni G, Expanded newborn screening by Mass Spectrom Rev. Jan- 2016 9.346 Malvagia S, la Marca G. mass spectrometry: New tests, Feb;35(1):71-84 future perspectives. 269

Screening neonatale Malvagia S, Haynes CA, Grisotto L, Heptadecanoylcarnitine (C17) a Clin Chim Acta. Oct 2015 2.799 Ombrone D, Funghini S, Moretti E, novel candidate biomarker for 23;450:342-8. McGreevy KS, Biggeri A, Guerrini newborn screening of propionic and R, Yahyaoui R, Garg U, Seeterlin M, methylmalonic acidemias. Chace D, De Jesus VR, la Marca G. Screening neonatale Villanelli F, Giocaliere E, Malvagia Dried blood spot assay for the Clin Chim Acta. Feb 2015 2.799 S, Rosati A, Forni G, Funghini S, quantification of phenytoin using 2;440:31-5 Shokry E, Ombrone D, Della Bona Liquid Chromatography-Mass ML, Guerrini R, la Marca G. Spectrometry. Screening neonatale Shokry E, Villanelli F, Malvagia S, Therapeutic drug monitoring of J Pharm Biomed Anal. 2015 3.169 Rosati A, Forni G, Funghini S, carbamazepine and its metabolite in May 10;109:164-70 Ombrone D, Della Bona M, children from dried blood spots Guerrini R, la Marca G using liquid chromatography and tandem mass spectrometry. Screening neonatale la Marca G. Newborn Screening: Are We Ready J Neuromuscul 2015 / for It? Dis.;2(s1):S10. Screening neonatale la Marca G, Canessa C, Giocaliere Diagnosis of immunodeficiency J Allergy Clin Immunol. 2014 12.047 E, Romano F, Malvagia S, Funghini caused by a purine nucleoside Jul;134(1):155-9. S, Moriondo M, Valleriani C, Lippi phosphorylase defect by using F, Ombrone D, Della Bona ML, tandem mass spectrometry on dried Speckmann C, Borte S, Brodszki N, blood spots. Gennery AR, Weinacht K, Celmeli F, Pagel J, de Martino M, Guerrini R, Wittkowski H, Santisteban I, Bali P, Ikinciogullari A, Hershfield M, Notarangelo LD, Resti M, Azzari C. Screening neonatale la Marca G, Giocaliere E, Malvagia The inclusion of ADA-SCID in J Pharm Biomed Anal. 2014 2.947 S, Funghini S, Ombrone D, Della expanded newborn screening by 2014 Jan;88:201-6 Bona ML, Canessa C, Lippi F, tandem mass spectrometry. Romano F, Guerrini R, Resti M, Azzari C. Screening neonatale la Marca G. Mass spectrometry in clinical J Pharm Biomed Anal. 2014 2.947 chemistry: the case of newborn 2014 Dec;101:174-82 screening.

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Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Melis D, Carbone F, Minopoli G, La Cutting Edge: Increased J Immunol. 2017 May 2017 4.9 Rocca C, Perna F, De Rosa V, Autoimmunity Risk in Glycogen 15;198(10):3803-3808. Galgani M, Andria G, Parenti G, Storage Disease Type 1b Is Matarese G. Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function. Cappuccio G, Vitiello F, Casertano New insights in the interpretation of Ital J Pediatr. 2016 Apr 2016 1.61 A, Fontana P, Genesio R, Bruzzese array-CGH: autism spectrum 12;42:39 D, Ginocchio VM, Mormile A, disorder and positive family history Nitsch L, Andria G, Melis D. for intellectual disability predict the detection of pathogenic variants. Melis D, Rossi A, Pivonello R, Del Reduced bone mineral density in Bone. 2016 May;86:79- 2016 3.7 Puente A, Pivonello C, Cangemi G, glycogen storage disease type III: 85. Negri M, Colao A, Andria G, evidence for a possible connection Parenti G. between metabolic imbalance and bone homeostasis. Melis D, Rossi A, Pivonello R, Glycogen storage disease type Ia Orphanet J Rare Dis. 2015 2015 3.29 Salerno M, Balivo F, Spadarella S, (GSDIa) but not Glycogen storage Jul 29;10:91 Muscogiuri G, Della Casa R, disease type Ib (GSDIb) is associated Formisano P, Andria G, Colao A, to an increased risk of metabolic Parenti G. syndrome: possible role of microsomal glucose 6-phosphate accumulation. Melis D,Minopoli G, Balivo F, Vitamin E Improves Clinical Outcome JIMD Rep. 2016;25:39-45. 2016 / Marcolongo P, Parini R, Paci S, of Patients Affected by Glycogen Dionisi-Vici C, Della Casa R, Storage Disease Type Ib. Benedetti A, Andria G, Parenti G.

271

Fecarotta S, Romano A, Della Casa Long term follow-up to evaluate the Orphanet J Rare Dis. 2015 2015 3,29 R, Del Giudice E, Bruschini D, efficacy of miglustat treatment in Feb 27;10:22. Mansi G, Bembi B, Dardis A, Italian patients with Niemann-Pick Fiumara A, Di Rocco M, Uziel G, disease type C. Ardissone A, Roccatello D, Alpa M, Bertini E, D'Amico A, Dionisi-Vici C, Deodato F, Caviglia S, Federico A, Palmeri S, Gabrielli O, Santoro L, Filla A, Russo C, Parenti G, Andria G. Parenti G, Andria G, Valenzano KJ. Pharmacological Chaperone MolTher. 2015 2015 6.93 Therapy: Preclinical Development, Jul;23(7):1138-48. Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders. Scala I,Concolino D, Della Casa R, Long-term follow-up of patients with Orphanet J Rare Dis. 2015 2015 3.29 Nastasi A, Ungaro C, Paladino S, phenylketonuria treated with Feb 8;10:14 Capaldo B, Ruoppolo M, Daniele A, tetrahydrobiopterin: a seven years Bonapace G, Strisciuglio P, Parenti experience. G, Andria G. Melis D,Cozzolino M, Minopoli G, Progression of renal damage in J Pediatr. 2015 2015 3.89 Balivo F, Parini R, Rigoldi M, Paci S, glycogen storage disease type I is Apr;166(4):1079-82 Dionisi-Vici C, Burlina A, Andria G, associated to hyperlipidemia: a Parenti G. multicenter prospective Italian study. Parenti G, Andria G, Ballabio A. Lysosomal storage diseases: from Annu Rev Med. 2015 10.95 pathophysiology to therapy. 2015;66:471-86. Parenti G, Moracci M, Fecarotta S, Pharmacological chaperone therapy Future Med Chem. 2014 2014 3.74 Andria G. for lysosomal storage diseases Jun;6(9):1031-45

272

Parenti G, Fecarotta S, la Marca G, A chaperone enhances blood α- MolTher. 2014 2014 6.22 Rossi B, Ascione S, Donati MA, glucosidase activity in Pompe Nov;22(11):2004-12. Morandi LO, Ravaglia S, disease patients treated with Pichiecchio A, Ombrone D, enzyme replacement therapy. Sacchini M, Pasanisi MB, De Filippi P, Danesino C, Della Casa R, Romano A, Mollica C, Rosa M, Agovino T, Nusco E, Porto C, Andria G. Melis D, Della Casa R, Balivo F, Involvement of endocrine system in Ital J Pediatr. 2014 Mar 2014 1.52 Minopoli G, Rossi A, Salerno M, a patient affected by glycogen 19;40(1):30. Andria G, Parenti G. storage disease 1b: speculation on the role of autoimmunity. Melis D,Pivonello R, Cozzolino M, Impaired bone metabolism in Horm Res Paediatr. 2014 1.57 Della Casa R, Balivo F, Del Puente glycogen storage disease type 1 is 2014;81(1):55-62. A, Dionisi-Vici C, Cotugno G, associated with poor metabolic Zuppaldi C, Rigoldi M, Parini R, control in type 1a and with Colao A, Andria G, Parenti G. granulocyte colony-stimulating factor therapy in type 1b. Strisciuglio P, Concolino D. New Strategies for the Treatment of Metabolites. 2014 Nov 2014 / Phenylketonuria (PKU). 4;4(4):1007-17. Concolino D, Mascaro I, Moricca Long-term treatment of Eur J Clin Nutr. 2017 2017 2.935 MT, Bonapace G, Matalon K, phenylketonuria with a new medical Jan;71(1):51-55. Trapasso J, Radhakrishnan G, food containing large neutral amino Ferrara C, Matalon R, Strisciuglio acids. P.

273

Pediatric Division, Department of Clinical Sciences, Polytechnic University of the Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Malattie lisosomiali Gabrielli O, Zampini L, Monachesi Early diagnosis of Clin Chim Acta. Feb 2017 2.799 MPS C, Marchesiello RL, Padella L, mucopolysaccharidoses in 28;468:150-151. Santoro L, Volpi N, Concolino D, developing countries: A low cost Fiumara A, Rigon L, Mazzoli M, and easy execution approach. Carnielli VP, Giovagnoni A, Catassi C, Galeazzi T, Coppa GV. Malattie lisosomiali Gabrielli O, Clarke LA, Ficcadenti A, 12 year follow up of enzyme- BMC Med Genet. 2016 2016 2.094 MPS Santoro L, Zampini L, Volpi N, replacement therapy in two Mar 10;17:19. Coppa GV. siblings with attenuated mucopolysaccharidosis I: the important role of early treatment. Coppa GV, Facinelli B, Magi G, Human milk glycosaminoglycans Pediatr Res. 2016 2006 2.761 Marini E, Zampini L, Mantovani V, inhibit in vitro the adhesion of Apr;79(4):603-7. Galeazzi T, Padella L, Marchesiello Escherichia coli and Salmonella RL, Santoro L, Coscia A, Peila C, fyris to human intestinal cells. Volpi N, Gabrielli O. Malattie lisosomiali Volpi N, Coppa GV, Zampini L, Plasmatic and urinary Clin Chem Lab Med. 2015 2015 3.017 Deficit slfatasi Maccari F, Galeotti F, Garavelli L, glycosaminoglycan profile in a Jun;53(7):e157-60. Galeazzi T, Padella L, Santoro patient affected by multiple L, Gabrielli O. sulfatase deficiency. Malattie lisosomiali Garavelli L, Santoro L, Iori A, Multiple sulfatase deficiency with Ital J Pediatr. Dec 17;40:86 2014 1.614 Deficit solfatasi Gargano G, Braibanti S, Pedori S, neonatal manifestation. Melli N, Frattini D, Zampini L, Galeazzi T, Padella L, Pepe S, Wischmeijer A, Rosato S, Ivanovski I, Iughetti L, Gelmini C, Bernasconi S, Superti-Furga A, Ballabio A, Gabrielli O.

274

Malattie lisosomiali Zampini L, Padella L, Marchesiello Importance of the combined Clin Chim Acta. 2017 2017 2.799 MPS RL, Santoro L, Monachesi C, urinary procedure for the diagnosis Jan;464:165-169. Giovagnoni A, Catassi C, Gabrielli of Mucopolysaccharidoses. O, Coppa GV, Galeazzi T.

Department of Pharmaceutical Science, University of Perugia, Perugia, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Malattie lisosomiali Tasegian A, Paciotti S, Ceccarini Origin of α-mannosidase activity in Int J Biochem Cell Biol. 2017 4.046 Base MR, Codini M, Moors T, Chiasserini CSF. Mar 27;87:34-37. D, Albi E, Winchester B, van de Berg WDJ, Parnetti L, Beccari T. Malattie lisosomiali Paciotti S, Codini M, Tasegian A, Lysosomal alpha-mannosidase and Front Biosci (Landmark 2017 2.5 Base Ceccarini MR, Cataldi S, Arcuri C, alpha-mannosidosis. Ed). 2017 Jan 1;22:157- Fioretti B, Albi E, Beccari T. 167. Malattie lisosomiali Chiasserini D, Paciotti S, Eusebi P, Selective loss of Mol Neurodegener. Mar 2015 6.510 Persichetti E, Tasegian A, Kurzawa- glucocerebrosidase activity in 27;10:15. Akanbi M, Chinnery PF, Morris CM, sporadic Parkinson's disease and Calabresi P, Parnetti L, Beccari T. dementia with Lewy bodies. Malattie lisosomiali Persichetti E, Chiasserini D, Factors influencing the PLoS One. Jul 2014 3.234 Parnetti L, Eusebi P, Paciotti S, De measurement of lysosomal 1;9(7):e101453 Carlo C, Codini M, Tambasco N, enzymes activity in human Rossi A, El-Agnaf OM, Calabresi cerebrospinal fluid. P, Beccari T. Malattie lisosomiali Paciotti S, Persichetti E, Klein K, Accumulation of free J Biol Chem. Apr 2014 4.258 Tasegian A, Duvet S, Hartmann D, oligosaccharides and tissue 4;289(14):9611-22 Gieselmann V, Beccari T. damage in cytosolic α-mannosidase (Man2c1)-deficient mice.

275

Department of Pediatrics, Child Neurology and Psychiatry / Dip Medicina Sperimentale Univ Roma Sapienza / UOC Patologia Clinica AOU Policlinico Umberto I

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Tisoninemia Leuzzi V, Mastrangelo M, Giannini Neuromotor and cognitive Neurology. 2017 Jan 2017 8.166 MT, Carbonetti R, Hoffmann GF. outcomes of early treatment in 31;88(5):501-502. (15) tyrosine hydroxylase deficiency type B. Mastrangelo M, Scheffer IE, Epilepsy in KCNH1-related Epileptic Disord. 2016 Jun 2016 0.942 Bramswig NC, Nair LD, Myers CT, syndromes. 1;18(2):123-36 Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V. Leuzzi V, Rossi L, Gabucci C, Erythrocyte-mediated delivery of J Inherit Metab Dis. 2016 2016 3.541 Nardecchia F, Magnani M. recombinant enzymes. Jul;39(4):519-30 PKU Manti F, Nardecchia F, Chiarotti F, Psychiatric disorders in adolescent Mol Genet Metab. 2016 2016 3,093 Carducci C, Carducci C, Leuzzi V. and young adult patients with Jan;117(1):12-8. phenylketonuria. PKU Mastrangelo M, Chiarotti F, Berillo The outcome of white matter Mol Genet Metab. 2015 2015 3,093 L, Caputi C, Carducci C, Di Biasi C, abnormalities in early treated Nov;116(3):171-7 Manti F, Nardecchia F, Leuzzi V. phenylketonuric patients: A retrospective longitudinal long- term study. PKU Carducci C, Santagata S, Friedman Urine sepiapterin excretion as a Mol Genet Metab. 2015 2015 3,093 J, Pasquini E, Carducci C, Tolve M, new diagnostic marker for Aug;115(4):157-60. Angeloni A, Leuzzi V. sepiapterin reductase deficiency. PKU Nardecchia F, Manti F, Chiarotti F, Neurocognitive and neuroimaging Mol Genet Metab. 2015 2015 3,093 Carducci C, Carducci C, Leuzzi V. outcome of early treated young Jun-Jul;115(2-3):84-90. adult PKU patients: A longitudinal study.

276

Leuzzi V, Micheli R, D'Agnano D, Positive effect of erythrocyte- Neurol Neuroimmunol 2015 / Molinaro A, Venturi T, Plebani A, delivered dexamethasone in Neuroinflamm. 2015 Apr Soresina A, Marini M, Ferremi Leali ataxia-telangiectasia. 9;2(3):e98 P, Quinti I, Pietrogrande MC, Finocchi A, Fazzi E, Chessa L, Magnani M. PKU Leuzzi V, Mannarelli D, Manti F, Age-related psychophysiological Front Pediatr. 2014 Jun 2014 Pauletti C, Locuratolo N, Carducci vulnerability to phenylalanine in 23;2:57 / C, Carducci C, Vanacore N, phenylketonuria. Fattapposta F. Leuzzi V, Mastrangelo M, Polizzi A, Report of two never treated adult JIMD Rep. 2015;15:39-45. 2015 / Artiola C, van Kuilenburg AB, sisters with aromatic L-amino Acid Carducci C, Ruggieri M, Barone R, decarboxylase deficiency: a portrait Tavazzi B, Abeling NG, Zoetekouw of the natural history of the disease L, Sofia V, Zappia M, Carducci C. or an expanding phenotype? Mastrangelo M, Bernasconi P, De Teaching video neuroimages: Neurology. 2014 Feb 2014 8.166 Liso P, Caputi C, Bertino S, Leuzzi V. clinical course of infantile 18;82(7):e61. ascending hereditary spastic paralysis. NLC Leuzzi V, Garavaglia B, Manti F, Running apraxia as a presenting Mov Disord. 2014 2014 6.01 Bertino S, Nardocci N. symptom of neuronal ceroid Feb;29(2):277-8. lipofuscinosis 6. Deficit BH4 Nardecchia F, Chiarotti F, Carducci Altered tetrahydrobiopterin Eur J Pediatr. 2017 May 2017 1.921 C, Santagata S, Valentini G, metabolism in patients with 24. Angeloni A, Blau N, Leuzzi V. phenylalanine hydroxylase deficiency. Santagata S, Di Carlo E, Carducci Development of a new UPLC-ESI- Clin Chim Acta 2017 2017 2,799 Ca, Angeloni A, Leuzzi V, Carducci C MS/MS method for the Mar;466:145-151. Deficit BH4 determination of biopterin and

neopterin in dried blood spot

277

Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

MPSI Parini R, Jones SA, Harmatz PR, The natural history of growth in Mol Genet Metab. 2016 2016 3.09 Giugliani R, Mendelsohn NJ. patients with Hunter syndrome: Apr;117(4):438-46. Data from the Hunter Outcome Survey (HOS). Fabry Parini R, Schiffmann R, A Systematic Review of The Value Health. 2015 2015 3.824 Fotheringham I, Todorova L. Humanistic Burden of Disease In Nov;18(7):A762 Patients With Fabry Disease. Glicogenosi III Brambilla A, Mannarino S, Pretese Improvement of Cardiomyopathy JIMD Rep. 2014;17:91-5. 2014 / R, Gasperini S, Galimberti C, Parini After High-Fat Diet in Two Siblings R. with Glycogen Storage Disease Type III. Ciclo urea Grioni D, Furlan F, Canonico Epilepsia partialis continua and Neuropediatrics. 2014 2014 1.29 F, Parini R. generalized nonconvulsive status Apr;45(2):123-8 epilepticus during the course of argininemia: a report on two cases. Fabry Rigoldi M, Concolino D, Morrone A, Intrafamilial phenotypic variability Clin Genet. 2014 2014 3.931 Pieruzzi F, Ravaglia R, Furlan F, in four families with Anderson- Sep;86(3):258-63. Santus F, Strisciuglio P, Torti Fabry disease. G, Parini R. Fabry Concolino D, Degennaro E, Parini Delphi consensus on the current Eur J Intern Med. 2014 2014 2.591 R; clinical and therapeutic knowledge Oct;25(8):751-6 on Anderson-Fabry disease. MPS Parini R, Deodato F, Di Rocco M, Open issues in Orphanet J Rare Dis. 2017 2017 3.507 Lanino E, Locatelli F, Messina C, Mucopolysaccharidosis type I- Jun 15;12(1):112. Rovelli A, Scarpa M. Hurler.

278

Clinica Pediatrica-Universita’ Degli Studi Di Milano-Ospedale San Paolo-Asst Santi Paolo E Carlo-Milano

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

PKU Moretti F1, Pellegrini N2, Salvatici Dietary glycemic index, glycemic NutrMetabCardiovasc Dis. 2017 2015 E3, Rovelli V3, Banderali G3, Radaelli load and metabolic profile in 2017 Feb;27(2):176-182. 3.390 G3, Scazzina F2, Giovannini M4, children with phenylketonuria Verduci E5. PKU Verduci E1, Banderali G2, Moretti Diet in children with NutrMetabCardiovasc Dis. 2016 3.390 F3, Lassandro C4, Cefalo G5, Radaelli phenylketonuria and risk of 2016 Mar;26(3):171-7 G6, Salvatici E7, Giovannini M8. cardiovascular disease: A narrative overview GSD I - III Allegrini D1, Autelitano A2, Lens opacities in glycogenoses type Can J Ophthalmol. 2015 2015 1.460 Fogagnolo P2, De Cillà S3, Piozzi E4, I and III Dec;50(6):480-4. Mazza M4, Paci S5, Montanari C5, Riva E5, Rossetti L2. PKU Giovannini M1, Riva E, Salvatici E, Randomized controlled trial of a J Am CollNutr. 2014 2.245 Cefalo G, Radaelli G. protein substitute with prolonged 2014;33(2):103-10. d release on the protein status of children with phenylketonuria

Rare Disease Centre, Helios Dr. Horst Schmidt Clinic, Wiesbaden, Germany. / Department of Women's and Children's Health, University of Padova, Padova, Italy.

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

LSD Scarpa M, Bellettato CM, Lampe C, Neuronopathic lysosomal storage Best Pract Res Clin 2015 5.070 Begley DJ. disorders: Approaches to treat the Endocrinol Metab. 2015 central nervous system. Mar;29(2):159-71 LSD Mazzoccoli G, Mazza T, Vinciguerra The biological clock and the JIMD Rep. 2015;18:93- 2015 / M, Castellana S, Scarpa M. molecular basis of lysosomal 105 storage diseases. 279

MPSII Zanetti A, Tomanin R, Rampazzo A, A Hunter Patient with a Severe JIMD Rep. 2014 2014 / Rigon C, Gasparotto N, Cassina M, Phenotype Reveals Two Large Clementi M, Scarpa M. Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus. MPSII Manara R, Concolino D, Rampazzo Chiari 1 malformation and JIMD Rep. 2014;12:31-5 2014 / A, Zanetti A, Tomanin R, Faggin holocord syringomyelia in hunter R, Scarpa M. syndrome. MPS II Tomanin R, Zanetti A, D'Avanzo F, Clinical efficacy of enzyme Orphanet J Rare Dis. 2014 2014 3.358 Rampazzo A, Gasparotto N, Parini replacement therapy in paediatric Sep 18;9:129 R, Pascarella A, Concolino D, Hunter patients, an independent Procopio E, Fiumara A, Borgo A, study of 3.5 years. Frigo AC, Scarpa M.

Department of Pediatrics, University of Torino, Torino, Italy/ Dip. Neuroscienze, Università di Torino

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Fabry Spada M, Kasper D, Pagliardini V, Metabolic progression to clinical Ital J Pediatr. 2017 Jan 2017 1.614 Biamino E, Giachero S, Porta F. phenotype in classic Fabry disease. 3;43(1):1 Fabry Mignani R, Pieruzzi F, Berri F, FAbry STabilization indEX (FASTEX): Clin Kidney J. 2016 2016 / Burlina A, Chinea B, Gallieni M, an innovative tool for the Oct;9(5):739-47. Pieroni M, Salviati A, Spada M. assessment of clinical stabilization in Fabry disease. PKU Porta F, Ponzone A, Spada M. Long-term safety and effectiveness Eur J Paediatr Neurol. 2016 1.923 of pramipexole in 2016 Nov;20(6):839-842. tetrahydrobiopterin deficiency. PKU Porta F, Ponzone A, Spada M. Target Prolactin Range in J Pediatr. 2016 2016 3.890 Treatment of Tetrahydrobiopterin Jan;168:236-9.e1 Deficiency. MMA Spada M, Calvo PL, Brunati A, Liver transplantation in severe J Pediatr. 2015 2015 3.890 Peruzzi L, Dell'Olio D, Romagnoli R, methylmalonic acidemia: The Nov;167(5):1173. Porta F. sooner, the better.

280

MMA Spada M, Calvo PL, Brunati A, Early Liver Transplantation for Pediatrics. 2015 2015 5.473 Peruzzi L, Dell'Olio D, Romagnoli R, Neonatal-Onset Methylmalonic Jul;136(1):e252-6. Porta F. Acidemia.

Galattosemia Porta F, Pagliardini S, Pagliardini V, Newborn screening for World J Pediatr. 2015 1.025 Ponzone A, Spada M. galactosemia: a 30-year single May;11(2):160-4 center experience. PKU Porta F, Ponzone A, Spada M. Short prolactin profile for Eur J Paediatr Neurol. 2015 1.923 Bh4 monitoring treatment in BH4 2015 May;19(3):360-3. deficiency. Pompe Porta F, Pagliardini V, Roasio L, Playing competitive basketball in Muscle Nerve. 2015 2.713 Biamino E, Spada M. face of late-onset pompe disease. Feb;51(2):302-3. OTC D'Onofrio V, Poma F, Enea A, Hyperammonemic coma in a Pediatr Med Chir. 2014 2014 / Santarelli F, Lovera C, Spada M. patient with late-onset OTC Jun 30;36(3):9. deficiency. Porta F, Mussa A, Baldassarre G, Genealogy of breastfeeding. E ur J Pediatr. 2016 2016 1.791 Perduca V, Farina D, Spada M, Jan;175(1):105-12 Ponzone .A Mussa A, Baldassarre G, Porta F. Fracture odds and body mass index J Pediatr. 2014 2014 3.890 in children Dec;165(6):1274.

Pompe Mongini T, Vercelli L, Ponzalino V, Early Recognition of Late-Onset J Neuromuscul Dis. 2015 / Bortolani S. Pompe Disease by Skeletal Muscle 2015;2(s1):S2. No Signs and Symptoms. abstract available Mongini T, Toscano A. Foreword. J Neuromuscul Dis. 2015 / 2015;2(s1):Si-Sii

Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli "Federico II", Naples, Italy. CEINGE Biotecnologie Avanzate, Naples, Italy.

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Organico-aciduria Villani GR, Gallo G, Scolamiero E, "Classical organic acidurias": Clin Exp Med. 2016 Sep 9. 2016 2.854 Salvatore F, Ruoppolo M. diagnosis and pathogenesis. 281

MMA Caterino M, Chandler RJ, Sloan JL, The proteome of methylmalonic Mol Biosyst. 2016 2016 2.829 Dorko K, Cusmano-Ozog K, Ingenito acidemia (MMA): the elucidation of Feb;12(2):566-74. L, Strom SC, Imperlini E, Scolamiero altered pathways in patient livers. E, Venditti CP, Ruoppolo M. Ruoppolo M, Scolamiero E, Female and male human babies Mol Biosyst. 2015 2015 2.829 Caterino M, Mirisola V, Franconi F, have distinct blood metabolomic Sep;11(9):2483-92. Campesi I. patterns. Screening neonatale Scolamiero E, Cozzolino C, Albano Targeted metabolomics in the Mol Biosyst. 2015 2015 2.829 L, Ansalone A, Caterino M, Corbo expanded newborn screening for Jun;11(6):1525-35. G, di Girolamo MG, Di Stefano C, inborn errors of metabolism. Durante A, Franzese G, Franzese I, Gallo G, Giliberti P, Ingenito L, Ippolito G, Malamisura B, Mazzeo P, Norma A, Ombrone D, Parenti G, Pellecchia S, Pecce R, Pierucci I, Romanelli R, Rossi A, Siano M, Stoduto T, Villani GR, Andria G, Salvatore F, Frisso G, Ruoppolo M. cblC Caterino M, Pastore A, Strozziero The proteome of cblC defect: in J Inherit Metab Dis. 2015 3.541 MG, Di Giovamberardino G, vivo elucidation of altered cellular Sep;38(5):969-79. Imperlini E, Scolamiero E, Ingenito pathways in humans. L, Boenzi S, Ceravolo F, Martinelli D, Dionisi-Vici C, Ruoppolo M. Ruoppolo M, Campesi I, Serum metabolomic profiles Am J Transl Res. 2014 Oct 2014 3.402 Scolamiero E, Pecce R, Caterino M, suggest influence of sex and oral 11;6(5):614-24. Cherchi S, Mercuro G, Tonolo G, contraceptive use. Franconi F. Screening neonatale Scolamiero E, Villani GR, Ingenito L, Maternal vitamin B12 deficiency Clin Biochem. 2014 2014 2.275 Pecce R, Albano L, Caterino M, di detected in expanded newborn Dec;47(18):312-7. Girolamo MG, Di Stefano C, screening. Franzese I, Gallo G, Ruoppolo M. Caterino M, Aspesi A, Pavesi E, Analysis of the interactome of Proteomics. 2014 2014 4,079 Imperlini E, Pagnozzi D, Ingenito L, ribosomal protein S19 mutants. Oct;14(20):2286-96. Santoro C, Dianzani I, Ruoppolo M.

282

Inherited Metabolic Diseases Unit, Department of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note cblA Maines E, Morandi G, Gugelmo G, Vitamin B12 Administration by JIMD Rep. 2016 2016 / Ion-Popa F, Campostrini N, Pasini Subcutaneous Catheter Device in a A, Vincenzi M, Teofoli F, Camilot Cobalamin A (cblA) Patient. M, Bordugo A. Altro Maines E, Morandi G, Olivieri F, Erratum to: Growth Hormone JIMD Rep. 2015 2015 / Camilot M, Cavarzere P, Gaudino R, Deficiency and Lysinuric Protein Antoniazzi F, Bordugo A. Intolerance: Case Report and Review of the Literature. Altro Maines E, Baggio L, Gugelmo L, Newborn with rhizomelia and Skeletal radiology Feb 2017 1.19 Morandi G, Bordugo A difficult breathing 46(2):291-292

Altro Tadiotto E, Maines E, Degani D, A Neonate with abdominal Arch Dis Educ Pract Ed 26 1.33 banzato C, balter R, Gugelmo G, distention and failure to thrive Apr dardis A, Giordano G, Bordugo A

Altro Bordugo A; Carlin E, Demarini S, A neonate with a milky blood: what Arch Dis Child Fetal 2014 3,96 Faletra F., Colonna F. can it be? Neonatal Ed 99(6) F514

Unità operativa / Dipartimento /Azienda: Clinical Psychology, Department of Health Sciences, University of Milan, Milan, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

PKU Borghi L, Salvatici E, Riva E, Psychological and psychosocial Minerva Pediatr. 2017 2017 / Giovannini M, Vegni EA. implications for parenting a child May 4. with phenylketonuria: a systematic review.

283 altro Vegni E, Borghi L. Patient-centered medicine in Tumori. 2017 Mar 2017 / palliative cancer care: the 24;103(2):e21. impossible choice between physician's responsibility and patient's preferences. altro Borghi L, Tesoro V, Vegni E, Bini T, A qualitative content analysis of Recenti Prog Med. 2016 2016 / Leone D. HIV consultation: when Mar;107(3):149-56. conversation is about aother than disease]. altro Meschi T, Ticinesi A, Prati B, A novel organizational model to Intern Emerg Med. 2016 2016 2.340 Montali A, Ventura A, Nouvenne face the challenge of multimorbid Aug;11(5):667-76. A, Borghi L. elderly patients in an internal medicine setting: a case study from Parma Hospital, Italy. altro Borghi L, Johnson I, Barlascini L, Do occupational therapists' Scand J Occup Ther. 2016 0.957 Moja EA, Vegni E. communication behaviours change 2016;23(1):50-6. with experience? Omocisteinemia Lippi G, Mattiuzzi C, Meschi T, Homocysteine and migraine. A Clin Chim Acta. 2014 Jun 2014 2.824 Cervellin G, Borghi L. narrative review. 10;433:5-11. altro Lippi G, Borghi L. A short story on how the H-index Clin Chem Lab Med 2014 2014 3.017 may change the fate of scientists Feb;52(2):e1-3. and scientific publishing.

Department of Medical and Surgical Science, Paediatric Unit, University 'Magna Graecia', Catanzaro, Italy.

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Malattia di Gaucher Ceravolo F, Grisolia M, Sestito S, Combination therapy in a patient J Med Case Rep. 2017 Jan 2017 / Falvo F, Moricca MT, Concolino D. with chronic neuronopathic 20;11(1):19. Gaucher disease: a case report. Malattia di Gaucher Sestito S, Filocamo M, Ceravolo F, Norrbottnian clinical variant of J Hum Genet. 2017 2017 2.487 Falvo F, Grisolia M, Moricca MT, Gaucher disease in Southern Italy. Apr;62(4):507-511 Cantaffa R, Grossi S, Strisciuglio P, Concolino D. 284

PKU Concolino D, Mascaro I, Moricca Long-term treatment of Eur J Clin Nutr. 2017 2017 2.935 MT, Bonapace G, Matalon K, phenylketonuria with a new Jan;71(1):51-55. Trapasso J, Radhakrishnan G, medical food containing large Ferrara C, Matalon R, Strisciuglio P. neutral amino acids. Malattia di Fabry Pensabene L, Sestito S, Nicoletti A, Gastrointestinal Symptoms of Gastroenterol Res Pract. 2016 / Graziano F, Strisciuglio Patients with Fabry Disease. 2016;2016:9712831. P, Concolino D. Malattia di Fabry Di Martino MT, Scionti F, Sestito S, Genetic variants associated with Oncotarget. 2016 Dec 2015 5.008 Nicoletti A, Arbitrio M, Hiram Guzzi gastrointestinal symptoms in Fabry 27;7(52):85895-85904 P, Talarico V, Altomare F, disease. Sanseviero MT, Agapito G, Pisani A, Riccio E, Borrelli O, Concolino D°, Pensabene L°. PKU Strisciuglio P, Concolino D. New Strategies for the Treatment Metabolites. 2014 Nov 2014 / of Phenylketonuria (PKU). 4;4(4):1007-17.

Malattia di Fabry Concolino D, Degennaro E, Parini Delphi consensus on the current Eur J Intern Med. 2014 2014 2.591 R; Fabry Delphi working group.; clinical and therapeutic knowledge Oct;25(8):751-6. Fabry Delphi working group.. on Anderson-Fabry disease.

Ceravolo F, Messina S, Rodolico C, Myoglobinuria as first clinical sign Eur J Pediatr. 2014 2014 1.791 Strisciuglio P, Concolino D. of a primary alpha- Feb;173(2):239-42. sarcoglycanopathy.

Dipartimento di Scienze Chimiche, Università degli Studi di Catania, V.le A. Doria 6, 95125 Catania, Italy.

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Muccilli V, Cardullo N, Spatafora C, α-Glucosidase inhibition and Food Chem. 2017 Jan 2017 4.052 Cunsolo V, Tringali C. antioxidant activity of an 15;215:50-60. oenological commercial tannin. Extraction, fractionation and analysis by HPLC/ESI-MS/MS and (1)H NMR. 285

Muccilli V, Saletti R, Cunsolo V, Ho Protein profile of exhaled breath J Pharm Biomed Anal. 2015 3.169 J, Gili E, Conte E, Sichili S, Vancheri condensate determined by high 2015 Feb;105:134-49 C, Foti S. resolution mass spectrometry.

Department of Movement, Human and Health Sciences, Unit of Biology, Genetics and Biochemistry, Università degli Studi di Roma "Foro Italico", Rome, Italy.

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Duranti G, Ceci R, Sgrò P, Sabatini Influence of the PDE5 inhibitor Cell Stress Chaperones. 2017 2.583 S, Di Luigi L. tadalafil on redox status and 2017 May;22(3):389-396. antioxidant defense system in C2C12 skeletal muscle cells.

AO Pediatria-Pession- Dipartimento di Scienze Mediche e Chirurgiche - AOU Sant'Orsola-Malpighi ,- Bologna

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Glicogenosi tipo II Ortolano R, Baronio F, Masetti R, Letter to the Editors: Concerning Mol Genet Metab Rep. 2017 / (M.Pompe) Prete A, Cassio A, Pession A. "Divergent clinical outcomes of 2017 Mar 7;11:1. alphaglucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state" by Takashi M et al.

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Trial clinici farmacologici Stato dell’arte sullo sviluppo dei farmaci orfani

Numerosi ricercatori SIMMESN hanno partecipato a trial clinici con farmaci trial clinici (media di 3.63±4.34 studi per centro). Le malattie lisosomiali orfani nell’ambito delle malattie metaboliche ereditarie. hanno rappresentato il target principale di trial con farmaci orfani (70% I dati sono stati raccolti attraverso la compilazione di una scheda inviata a degli studi), seguite dalle aminoacidopatie (27.5%) e dalle malattie tutti i soci SIMMENS. mitocondriali (2.5%). Dal punto di vista del meccanismo d’azione Dei 19 Centri clinici italiani specializzati in malattie metaboliche ereditarie e terapeutica, i farmaci più utilizzati sono risultati gli enzimi ricombinanti afferenti alla SIMMENS (http://www.sismme.it/centriclinici/italia.html), 11 (55%), seguiti da molecole con attività di attivazione o inibizione enzimatica (57.8%) hanno compilato il questionario e comunicato i dati. Globalmente, (inclusa la riduzione del substrato) (35%) e da altri approcci (10%: cellule il censimento 2014-2017 ha consentito di individuare 40 partecipazioni a staminali, terapia genica, riduzione dello stress ossidativo e altro).

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Trial clinici farmacologici 1 2 3 4 5 6 7 8 Partners Ruolo Durata Nome MR Sponsor Denominazione del trial Farmaco Note I N C P C T (anno) Niemann-Pick B Sanofi Terapia S.O.C. Centro di enzimatica Coordinamento sostitutiva Regionale per le Malattie Rare, Azienda Ospedaliero Universitaria Santa Maria della Misericordia, Udine Niemann-Pick B Sanofi Terapia S.O.C. Centro di enzimatica Coordinamento sostitutiva Regionale per le Malattie Rare, Azienda Ospedaliero Universitaria Santa Maria della Misericordia, Udine Niemann-Pick C Orphazyme Chaperone S.O.C. Centro di Coordinamento Regionale per le Malattie Rare, Azienda Ospedaliero Universitaria Santa Maria della Misericordia, Udine

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Pompe Genzyme Terapia S.C Pediatria I - enzimatica Presidio "Ospedale sostitutiva Infantile Regina Margherita, Azienda Ospedaliero- Universitaria Città della Salute e della Scienza di Torino Pompe Indipendente Terapia S.C Pediatria I - enzimatica Presidio "Ospedale sostitutiva Infantile Regina Margherita, Azienda Ospedaliero- Universitaria Città della Salute e della Scienza di Torino Tirosinemia Sobi Inibizione S.C Pediatria I - enzimatica Presidio "Ospedale Infantile Regina Margherita, Azienda Ospedaliero- Universitaria Città della Salute e della Scienza di Torino Iperammoniemie Indipendente Cellule S.C Pediatria I - neonatali staminali Presidio "Ospedale epatiche Infantile Regina Margherita, Azienda Ospedaliero- Universitaria Città della Salute e della Scienza di Torino

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Alcaptonuria Sobi Inibizione S.C Pediatria I - enzimatica Presidio "Ospedale Infantile Regina Margherita, Azienda Ospedaliero- Universitaria Città della Salute e della Scienza di Torino Fabry Genzyme Terapia S.C Pediatria I - enzimatica Presidio "Ospedale sostitutiva Infantile Regina Margherita, Azienda Ospedaliero- Universitaria Città della Salute e della Scienza di Torino Gaucher Genzyme Inibizione S.C Pediatria I - substrato Presidio "Ospedale Infantile Regina Margherita, Azienda Ospedaliero- Universitaria Città della Salute e della Scienza di Torino Tirosinemia Sobi Inibizione Centro HUB rete enzimatica Malattie Metaboliche Ereditarie Area Vasta Emilia Nord - Emilia Romagna - Piacenza Niemann-Pick C Orphazyme Chaperone Unità Operativa Complessa di Patologia Metabolica, Ospedale Pediatrico Bambino Gesù IRCCS, Roma

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Sindome di Leigh EDISON Riduzione Unità Operativa Farmaceutical stress Complessa di Patologia ossidativo Metabolica, Ospedale Pediatrico Bambino Gesù IRCCS, Roma Niemann-Pick C Aifa Riduzione Dipartimento di substrato Scienze mediche Traslazionali- Sezione di Pediatria-Università "Federico II"- Napoli (Coordinatore) Pompe Telethon UILDM Terapia Dipartimento di combinata Scienze mediche ERT+Chaperon Traslazionali- Sezione di Pediatria-Università "Federico II"- Napoli MPS VI Telethon UE Terapia genica Dipartimento di Scienze mediche Traslazionali- Sezione di Pediatria-Università "Federico II"- Napoli Wolman SynagevaAlexion Terapia Dipartimento di enzimatica Scienze mediche sostitutiva Traslazionali- Sezione di Pediatria-Università "Federico II"- Napoli PKU Aifa Chaperone Dipartimento di Scienze mediche Traslazionali- Sezione di Pediatria-Università "Federico II"- Napoli (Coordinatore)

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MPS IVA Biomarin Terapia Unità Operativa enzimatica Semplice Malattie sostitutiva Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza MPS IVA Biomarin Terapia Unità Operativa enzimatica Semplice Malattie sostitutiva Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza MPS IVA Biomarin Terapia Unità Operativa enzimatica Semplice Malattie sostitutiva Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza MPS IIIA Shire Terapia Unità Operativa enzimatica Semplice Malattie sostitutiva Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza MPS IIIA Shire Terapia Unità Operativa enzimatica Semplice Malattie sostitutiva Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza

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MPS II Shire Terapia Unità Operativa enzimatica Semplice Malattie sostitutiva Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza Fabry Shire Terapia Unità Operativa enzimatica Semplice Malattie sostitutiva Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza MPS I Genzyme Terapia Unità Operativa enzimatica Semplice Malattie sostitutiva Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza Pompe Genzyme Terapia Unità Operativa enzimatica Semplice Malattie sostitutiva Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza MPS VI Biomarin Terapia Unità Operativa enzimatica Semplice Malattie sostitutiva Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza

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Tirosinemia Sobi Inibizione Unità Operativa enzimatica Semplice Malattie Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza MPS IVA Biomarin Terapia Unità Operativa enzimatica Semplice Malattie sostitutiva Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza Niemann-Pick C Orphazyme Unità Operativa Semplice Malattie Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza MPS IIIB Alexion Unità Operativa Semplice Malattie Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza Pompe Erasmus MC Terapia Unità Operativa enzimatica Semplice Malattie sostitutiva Metaboliche Rare, Clinica Pediatrica, Fondazione MBBM, Azienda Ospedaliera San Gerardo, Monza

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PKU Biomarin Chaperon Centro Regionale di riferimento per gli screening neonatali e la diagnosi delle malattie metaboliche, Istituto Giannina Gaslini, Genova MPS IVA Biomarin Terapia DIPARTIMENTO DI enzimatica PEDIATRIAUNIVERSITA’ sostitutiva di CATANIA - Centro di Riferimento Regionale per la cura ed il controllo delle Malattie Metaboliche ereditarie dell’infanzia Pompe Indipendente Terapia DIPARTIMENTO DI enzimatica PEDIATRIAUNIVERSITA’ sostitutiva di CATANIA - Centro di Riferimento Regionale per la cura ed il controllo delle Malattie Metaboliche ereditarie dell’infanzia PKU Biomarin Chaperone Centro Clinico Regionale di riferimento per diagnosi e follow-up Malattie Metaboliche, Dipartimento di Scienze Mediche e Chirurgiche, A.O.U. S'ORSOLA MALPIGHI BOLOGNA

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PKU MerkSerono Chaperone Centro Clinico Regionale di riferimento per diagnosi e follow-up Malattie Metaboliche, Dipartimento di Scienze Mediche e Chirurgiche, A.O.U. S'ORSOLA MALPIGHI BOLOGNA PKU MerkSerono Chaperone Centro Clinico Regionale di riferimento per diagnosi e follow-up Malattie Metaboliche, Dipartimento di Scienze Mediche e Chirurgiche, A.O.U. S'ORSOLA MALPIGHI BOLOGNA MPS II Shire Terapia Centro Clinico enzimatica Regionale di sostitutiva riferimento per diagnosi e follow-up Malattie Metaboliche, Dipartimento di Scienze Mediche e Chirurgiche, A.O.U. S'ORSOLA MALPIGHI BOLOGNA

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Partecipazione Nazionale a ERN Rete MetabERN

Il network europeo, partner della Society for the Study of Inborn Error of • IRCCS Istituto Giannina Gaslini, Genova (M. di Rocco - R. Cerone), Metabolism (SSIEM), coinvolge 69 Health Care Providers, certificati e • Ospedale Pediatrico Meyer, Firenze (M.A. Donati - E. Pasquini), approvati dai Ministeri della Sanità di 18 diversi Paesi dell'Unione Europea. • IRCCS Ospedale Pediatrico Bambino Gesù, Roma (C. Dionisi-Vici - E. In Italia sono stati identificati 11 centri: Bertini), • Ospedale San Paolo, ASST Santi Paolo e Carlo, Milano (G. Cefalo - G. • ASST Monza San Gerardo Hospital (S. Gasparine - A. Piperno), Banderali), • Azienda Ospedaliera Universitaria "Federico II", Napoli (G. Parenti - • Università-Ospedale di Padova (A. Burlina - G. Polo). P. Strisciuglio), • Azienda Ospedaliera Universitaria Integrata di Verona (A. Salviati - I subnetwork “Lysosomal Diseases", "Carbohydrate, fatty acid Oxidation A. Bordugo), and ketone Bodies Disorders" e "Disorder of pyruvate metabolism, Krebs • Azienda Ospedaliera Universitaria Senese (A. Federico - M.T. Dotti), cycle defects, mitochondrial oxidative phosphorylation disorders and • Azienda Ospedaliero-Universitaria Pisana (F. Santini - G. Ceccarini), thiamine transport and metabolism disorders" vedono coinvolti con ruolo • Azienda Sanitaria Universitaria Integrata di Udine (B. Bembi - G.A. di cocordinatore medici provenienti dalla rete dei centri italiani. Dardis),

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Dai dati ufficiali MetabERN il Prof G. Parenti é coordinatore del "Lysosomal Diseases Subnetwork", Carlo Dionisi Vici del subnetwork "Carbohydrate, fatty acid Oxidation and ketone Bodies Disorders", Enrico Bertini del "Disorder of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders and thiamine transport and metabolism disorders" subnetwork.

HCP LEADER VICE AREA

ASST Monza San Gerardo Hospital Serena Gasperini Alberto Piperno Pediatria Medicina Interna Azienda Ospedaliera Universitaria "Federico II", Napoli Giancarlo Parenti Pietro Strisciuglio Pediatria

Azienda Ospedaliera Universitaria Integrata di Verona Alessandro Salviati Andrea Bordugo Pediatria

Azienda Ospedaliera Universitaria Senese Antonio Federico Maria Teresa Dotti Neurologia e malattie neuromuscolari Azienda Ospedaliero-Universitaria Pisana Ferruccio Santini Giovanni Ceccarini Endocrinologia

Azienda Sanitaria Universitaria Integrata di Udine Bruno Bembi Andrea Dardis

Centro di Coordinamento Regionale Malattie Rare

Giannina Gaslini Institute (IRCCS Giannina Gaslini) Maja di Rocco Roberto Cerone Ospedale pediatrico Meyer Children's Hospital Maria Alice Donati Elisabetta Pasquini Ospedale pediatrico Ospedale Pediatrico Bambino Gesù Carlo Dionisi Vici Enrico Bertini Ospedale Pediatrico San Paolo Hospital, ASST Santi Paolo e Carlo Graziella Cefalo Giuseppe Banderali Pediatria

University Hospital of Padova Alberto Burlina Giulia Polo Pediatria

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Malattie rare in età pediatrica: Ricerca, farmaci orfani e reti europee di riferimento

Malattie gastroenterologiche e epatologiche pediatriche A cura della Società Italiana di Gastroenterologia Epatologia e Nutrizione Pediatrica - SIGENP (Presidente: Carlo Agostoni)

Carlo Agostoni Mara Cananzi Gabriella Nebbia Giusy Ranucci

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Pubblicazioni

Epatopatie rare pediatriche: pubblicazioni dei gruppi italiani con ruolo leader

Per quanto concerne l’attività pubblicativa in ambito epatologico dell’adulto, considerato che nella maggior parte dei casi i pazienti pediatrico, i dati inseriti nel database sono stati ottenuti attraverso una necessitano di una terapia quotidiana e cronica e hanno una malattia che ricerca sulla piattaforma PubMed e selezionando le pubblicazioni inerenti a impatta a livello sistemico sull’organismo, il che rende ancor più complesso malattie epatiche rare dell’età pediatrica il cui primo/ultimo autore risulti il processo di transizione delle cure. In particolare per la gestione clinica e afferente ad un centro italiano. La ricerca è stata chiusa al 27 giugno 2017. terapeutica della malattia di Wilson e dei disturbi biliari cronici, come Sono state incluse le pubblicazioni prodotte dal 2014. l'atresia biliare, che rimane la più comune malattia cronica del fegato pediatrico e l'indicazione per il trapianto di fegato, la medicina dell’adulto Gli inserimenti nel database sono stati distinti per centro di appartenenza ha mutuato molto dell’esperienza fatta in ambito pediatrico. Per questi del primo/ultimo autore e malattia. disordini la ricerca pediatrica ha un ruolo centrale e trainante. Per quanto concerne la qualità delle pubblicazioni, l’impact factor totale è La SIGENP di recente si è fatta promotrice della creazione di un Network di circa 252 punti, con un impact factor mediano di 3,95 punti (range 0,5- Italiano dedicato allo studio dell’Atresia delle vie biliari, in associazione con 13,42). La maggior parte della produzione italiana in ambito epatologico i neonatolgi ed i chirurghi pediatrici. In particolare è stata promossa la pediatrico si concentra sui trapianti di fegato, ma peculiare è la produzione creazione di un registro pilota della malattia. Oltre al fine epidemiologico, il italiana a livello europeo in malattie rare, come la Malattia di Wilson. Negli registro ha l’obiettivo di coagulare l’energie dei vari ricercatori coinvolti ultimi 10 anni l'epatologia pediatrica si è espansa in aree cliniche vicine, nello studio della malattia per facilitare le ricerche sulla stessa e anche la come le malattie epatiche metaboliche e le condizioni sistemiche con gestione di trial clinici multicentrici. coinvolgimento epatico. Per quanto concerne la Malattia di Wilson, questa è diventata in ambito Le malattie epatiche rare generalmnte esordiscono in età pediatrica con epatologico nazionale un modello di malattia rara con ricerche in corso di quadri di epatite fulminante o possono progredire in maniera subdola fino tipo traslazionale che hanno unito ricercatori di base, clinici e l’associazione alla cirrosi epatica. In molti casi quando la malattia è evoluta, l'unico dei malati. Le ricerche degli ultimi anni si concentrano sulla genesi di nuove efficace trattamento è il trapianto di fegato. Nei pazienti pediatrici, il terapie per la cura della malattia. ritardo nella diagnosi è responsabile anche di scarsa crescita ed alterazione importante della qualità della vita dei piccoli pazienti. DI seguito un elenco in via di definizione sulla produzione scientifica degli ultimi anni ricercatori italiani nell’ambito delle malattie rare del fegato in Molte condizioni epatiche pediatriche sono precursori di malattie epatiche età pediatrica. croniche dell’adulto. A tal proposito una sfida importante nell’ambito delle malattie rare del fegato è la transizione delle cure dai pediatri ai medici

300

Pubblicazioni 1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Gaucher Disease type 2 Gotti G, Marseglia A, De Neonatal Jaundice with Fetal Pediatr Pathol, 35, 108- 2016 0,5 AO Giacomo C, Iascone Splenomegaly: Not a Common 111 Bergamo M, Sonzogni A, D'Antiga L. Pick. Hepatoblastoma Saettini F, Conter Is multifocality a prognostic factor Pediatr Blood Cancer, 61, 2014 2,51 V, Provenzi M, Rota in childhood hepatoblastoma? 1593-7 M, Giraldi E, Foglia C, Cavalleri L, D'Antiga L. Autoimmune liver disease Di Giorgio A, Bravi M, Fulminant hepatic failure J Pediatr Gastroenterol Nutr. 2015 2,4 Bonanomi E, Alessio G, of autoimmune aetiology 2015 Feb;60(2):159-64. Sonzogni A, Zen Y, Colledan in children. M, D'Antiga L. Liver transplant Nacoti M, Corbella D, Fazzi Coagulopathy and transfusion World J Gastroenterol. 2016 2016 3,8 F, Rapido F, Bonanomi E. therapy in pediatric liver Feb 14;22(6):2005-23. transplantation. Alagille Syndrome Pavanello M, Severino M, Pretransplant management of Liver Transpl. 2015 2015 3,91 D'Antiga L, Castellan L, basilar artery aneurysm and Sep;21(9):1227-30. Calvi A, Colledan M, moyamoya disease in a child with Gandolfo C. Alagille syndrome. Non-cirrhotic portal D'Antiga L, Dacchille P, Clues for minimal hepatic J Pediatr Gastroenterol Nutr. 2014 2,4 hypertension Boniver C, Poledri S, Schiff encephalopathy in children with 2014 Dec;59(6):689-94. S, Zancan L, Amodio P. noncirrhotic portal hypertension.

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Liver transplant Marseglia A, Ginammi M, Determinants of large drain losses Pediatr Transplant. 2017 Apr 2017 1,5 Bosisio M, Stroppa P, early after pediatric liver 17. Colledan M, D'Antiga L. transplantation. Liver transplant Nicastro E, Giovannozzi S, Effectiveness of Preemptive Transplantation. 2017 2017 3,67 Stroppa P, Casotti V, Therapy for Cytomegalovirus Apr;101(4):804-810. Callegaro AP, Tebaldi A, Disease in Pediatric Liver Farina C, Colledan M, Transplantation. DʼAntiga L. Liver carcinogenesis Ravà M, D'Andrea A, Doni Mutual epithelium-macrophage Hepatology. 2017 2017 13,24 M, Kress TR, Ostuni R, dependency in liver carcinogenesis May;65(5):1708-1719. Bianchi V, Morelli MJ, mediated by ST18. Collino A, Ghisletti S, Nicoli P, Recordati C, Iascone M, Sonzogni A, D'Antiga L, Shukla R, Faulkner GJ, Natoli G, Campaner S, Amati B. Progressive intrahepatic Iannelli F, Collino A, Sinha Massive gene amplification drives Nat Commun. 2015 Jul 2015 11,32 cholestasis S, Radaelli E, Nicoli paediatric hepatocellular 2;6:7456. P, D'Antiga L, Sonzogni A, carcinoma caused by bile salt Faivre J, Buendia MA, export pump deficiency. Sturm E, Thompson RJ, Knisely AS, Natoli G, Ghisletti S, Ciccarelli FD. Liver transplant D'Antiga L, Colledan M. Surgical gene therapy by domino Liver Transpl. 2015 2015 3,91 auxiliary liver transplantation. Nov;21(11):1338-9.

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Liver transplant Colledan M, D'Antiga L. Biliary complications after Pediatr Transplant. 2014 2014 1,5 pediatric liver transplantation: Dec;18(8):786-7. the endless heel. Bacterial Peritonitis Di Giorgio A, D'Antiga L. Diagnosing Spontaneous J Pediatr Gastroenterol Nutr. 2017 2,4 Bacterial Peritonitis in Children: 2017 Feb;64(2):171-172. Tap-in for Higher Scores. Neonatal Indolfi G, Bèrczes Neonatal haemochromatosis Transpl Int, 27, e76-79 2014 3,07 Primo Hemochromatosis R, Pelliccioli I, Bosisio with reversible pituitary 9 autore M, Agostinis C, Resti involvement. Meyer M, Zambelli M, Lucianetti Firenza A, Colledan M, D'Antiga L. Biliary Atresia Dilena R, Nebbia G, Epilepsy surgery in a liver- Eur J Paediatr Neurol, 2016 1,91 Fondazion Fiorica L, Farallo M, transplanted girl with temporal 20(4):652-656 e IRCCS Degrassi I, Gozzo F, lobe epilepsy and hippocampal Ospedale Pelliccia V, Barbieri S, sclerosis following PRES with Maggiore Cossu M, Tassi L status epilepticus Policlinico Milano Alagille Syndrome De Filippis T, Marelli F, JAG1 Loss-Of-function variations J Clin Endocrinol Metab, 2016 5,51 Nebbia G, Porazzi P, as a novel predisposing event in 101(3):861-870 Corbetta S, Fugazzola L, the pathogenesis of congenital Gastaldi R, Vigone MC, thyroid defects Biffanti R, Frizziero D, Mandarà L, Prontera P, Salerno M, Maghnie M, Tiso N, Radetti G, Weber G, Persani L

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Liver damage Donati B, Motta BM, The rs2294918 E434K variant Hepatology. 2016 2016 13,2 Pingitore P, Meroni M, modulates patatin-like Mar;63(3):787-98. 4 Pietrelli A, Alisi A, Petta S, phospholipase domain- Xing C, Dongiovanni P, containing 3 expression del Menico B, Rametta R, and liver damage. Mancina RM, Badiali S, Fracanzani AL, Craxì A, Fargion S, Nobili V, Romeo S, Valenti L. Liver transplant Spada M, Calvo PL, Early Liver Transplantation for Pediatrics. 2015 2015 5,2 Ospedale Brunati A, Peruzzi L, Neonatal-Onset Methylmalonic Jul;136(1):e252-6. Regina Dell'Olio D, Romagnoli R, Acidemia. Margherita Porta F. Torino Liver transplant Spada M, Calvo PL, Liver transplantation in severe J Pediatr. 2015 2015 6,1 Brunati A, Peruzzi L, methylmalonic acidemia: The Nov;167(5):1173. Dell'Olio D, Romagnoli R, sooner, the better. Porta F. Liver transplant Calvo PL, Serpe L, Brunati Donor CYP3A5 genotype Br J Clin Pharmacol. 2017 2017 3,83 A, Nonnato A, influences tacrolimus Jun;83(6):1252-1262. Bongioanni D, Olio DD, disposition on the first day after Pinon M, Ferretti C, paediatric liver transplantation. Tandoi F, Carbonaro G, Salizzoni M, Amoroso A, Romagnoli R, Canaparo R.

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Liver transplant Bergallo M, Gambarino S, EBV-encoded microRNAs profile J Clin Virol. 2017 Jun;91:36- 2017 Pinon M, Barat V, evaluation in pediatric liver 41. Montanari P, Daprà V, transplant recipients. Galliano I, Calvo PL. Congenital Disorder of Calvo PL, Spada M, An Unexplained Congenital JIMD Rep. 2017 Jun 23. 2017 5,6 Glycosilation Rabbone I, Pinon M, Disorder of Glycosylation-II in a Porta F, Cisarò F, Child with Neurohepatic Reggiani S, Cefalù AB, Involvement, Sturiale L, Garozzo D, Hypercholesterolemia and Lefeber DJ, Jaeken J. Hypoceruloplasminemia. Liver transplant Calvo PL, Brunati A, Liver transplantation in defects Am J Transplant. 2014 2014 5,6 Spada M, Romagnoli R, of cholesterol biosynthesis: the Apr;14(4):960-5 Corso G, Parenti G, Rossi case of lathosterolosis. M, Baldi M, Carbonaro G, David E, Pucci A, Amoroso A, Salizzoni M. Liver transplant Calvo PL, Brunati A, Liver transplantation in defects Am J Transplant. 2014 2014 5,6 Spada M, Romagnoli R, of cholesterol biosynthesis: the Apr;14(4):960-5. Corso G, Parenti G, Rossi case of lathosterolosis. M, Baldi M, Carbonaro G, David E, Pucci A, Amoroso A, Salizzoni M. Liver disease general Gasparetto M, Pillon M, Inside and outside the liver: the Minerva Pediatr. 2016 2016 AO Cananzi M, Opinto V, challenge of hepatitis- Feb;68(1):78-9. Padova Messina C, Guariso G. associated aplastic anemia in children. Extra-hepatic Rossi G, di Chio Spontaneous Extra-hepatic J Pediatr Gastroenterol 2014 2,4 AO Pisa Portosystemic Shunt T, Nastasio S, Maggiore Portosystemic Shunt in Nutr. G. Congenital Hepatic Fibrosis.

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Giant cell hepatitis with Marsalli G, Nastasio Efficacy of intravenous Clin Res Hepatol 2016 1,98 autoimmune hemolytic S, Sciveres M, Calvo immunoglobulin therapy in Gastroenterol., 40, 83-89 anemia PL, Ramenghi U, Gatti giant cell hepatitis with S, Albano V, Lega autoimmune hemolytic anemia: S, Ventura A, Maggiore A multicenter study. G. Hepatic finrinogen Asselta R, Robusto Hepatic fibrinogen storage J Thromb Haemost., 13, 2015 5,2 storage disease M, Braidotti P, Peyvandi disease: identification of two 1459-67 F, Nastasio S, D'Antiga novel mutations (p.Asp316Asn, L, Perisic VN, Maggiore fibrinogen Pisa and p.Gly366Ser, G, Caccia S, Duga S fibrinogen Beograd) impacting on the fibrinogen γ-module. Giant cell hepatitis with Marsalli G, Nastasio Efficacy of intravenous Clin Res Hepatol 2016 1,98 autoimmune hemolytic S, Sciveres M, Calvo immunoglobulin therapy in Gastroenterol., 40, 83-89 anemia PL, Ramenghi U, Gatti giant cell hepatitis with S, Albano V, Lega autoimmune hemolytic anemia: S, Ventura A, Maggiore A multicenter study. G. Autoimmune hepatitis Maggiore G, Socie G, Seronegative autoimmune Dig Liver Dis. 2016 2016 4,3 Sciveres M, Roque- hepatitis in children: Spectrum Jul;48(7):785-91. Afonso AM, Nastasio S, of disorders. Johanet C, Gottrand F, Fournier-Favre S, Jacquemin E, Bernard O. Hepatic finrinogen Asselta R, Robusto Hepatic fibrinogen storage J Thromb Haemost., 13, 2015 5,2 storage disease M, Braidotti P, Peyvandi disease: identification of two 1459-67 F, Nastasio S, D'Antiga novel mutations (p.Asp316Asn, L, Perisic VN, Maggiore fibrinogen Pisa and p.Gly366Ser, G, Caccia S, Duga S fibrinogen Beograd) impacting on the fibrinogen γ-module.

306 congenital intrahepatic Paolantonio Congenital double intrahepatic Ann Hepatol, 56, 370-372 2015 2,3 Bambino Portosystemic Shunt G, Pietrobattista A, portosystemic shunt: Imaging Gesù Roma Candusso M, Monti L, de findings and endovascular Ville de Goyet J, Torre G, closure. Rollo M. Liver transplant Dionisi-Vici C, Diodato D, Liver transplant in ethylmalonic Brain, 139, 1045-51 2016 10,2 Torre G, Picca S, Pariante encephalopathy: a new R, Giuseppe Picardo S, Di treatment for an otherwise fatal Meo I, Rizzo C, Tiranti V, disease. Zeviani M, De Ville De Goyet J. Familial Intrahepatic Giovannoni I, Callea F, Genetics and Molecular Plos One 2015,:e014 2015 3,2 Cholestasis Bellacchio E, Torre G, De Modeling of New Mutations of Ville De Goyet J, Familial Intrahepatic Cholestasis Francalanci P. in a Single Italian Center. congenital intrahepatic Bertocchini A, Falappa P, Intrahepatic portal venous J Pediatr Surg, 49, 1268-75 2014 1,97 Portosystemic Shunt Grimaldi C, Bolla G, systems in children with Monti L, de Ville de noncirrhotic prehepatic portal Goyet J. hypertension: anatomy and clinical relevance. Hepatic artery aneurysm Paolantonio G, Tarissi de Right hepatic artery aneurysms Ann Hepatol, 13, 284-287 2014 2,3 Jacobis I, Marchesi A, in a child with Kawasaki disease: Natali GL, de Ville de flow-preserving endovascular Goyet J, Rollo M, Villani A treatment. idiopathic prehepatic Superina RA, de Ville de Preemptive Meso-Rex bypass J Pediatr Gastroenterol 2014 2,4 portal hypertension Goyet J. for children with idiopathic Nutr., 58, e41 prehepatic portal hypertension: trick or treat?

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Liver transplant Angelico R, Passariello A, Ante situm liver resection with Int J Surg Case Rep. 2017 Jun 2017 2,4 Pilato M, Cozzolino T, inferior vena cava replacement 13;37:90-96 Piazza M, Miraglia R, under hypothermic D'Angelo P, Capasso M, cardiopolmunary bypass for Saffioti MC, Alberti D, hepatoblastoma: Report of a Spada M. case and review of the literature. Liver transplant De Luca M, Green M, Invasive candidiasis in liver Pediatr Transplant. 2016 2016 1,5 Symmonds J, Klieger SB, transplant patients: Incidence Mar;20(2):235-40. Soltys K, Fisher BT. and risk factors in a pediatric cohort. Liver transplant De Ville de Goyet J, di Splitting livers: Trans-hilar or Pediatr Transplant. 2015 1,44 Francesco F, Sottani V, trans-umbilical division? 19(5):517-26. 1 Grimaldi C, Tozzi AE, Technical aspects and Monti L, Muiesan P comparative outcomes Liver diseases, general Hadžić N, Baumann U, Long-term challenges and Lancet Gastroenterol 2017 10,2 McKiernan P, McLin V, perspectives of pre- Hepatol. 2017 Jun;2(6):435- Nobili V. adolescent liver disease. 445 Liver diseases, general Della Corte C, Mosca A, Pediatric liver diseases: current Expert Rev Gastroenterol 2016 2,41 Vania A, Alterio A, Alisi A, challenges and future Hepatol. 10(2):255-65. 7 Nobili V perspectives Liver cancer Nobili V, Alisi A, Grimaldi Non-alcoholic fatty liver disease Pediatr Obes. 9(5):e99-e102. 2014 2,41 C, Liccardo D, Francalanci and hepatocellular carcinoma in 9 P, Monti L, Castellano A, a 7-year-old obese boy: De Ville De Goyet J Coincidence or comorbidity? Alpha-1-antitrypsin Giovannoni I, Callea F, Alpha-1-antitrypsin deficiency: Liver Int. 35(1):198-206. 2015 4,44 see deficiency Stefanelli M, Mariani R, from genoma to liver disease. 7 METABOLI Santorelli FM, PiZ mouse as model for the C Francalanci P development of liver pathology in human

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Anomaly of Portal Grimaldi C, Adorisio O, di Congenital Meso-Rex Bypass: A J Pediatr Gastroenterol Nutr. 2017 2,62 System Francesco F, Goyet JV Rare and Remarkable 64(2):e49. 5 Anatomical Variation of the Portal System Autoimmune liver Cardile S, Alterio T, Autoimmune liver diseases and Scand J Gastroenterol. 2017 2017 2,3 disease Candusso M, inflammatory Jun - Jul;52(6-7):662-667. Pietrobattista A, Liccardo bowel diseases in children: D, Basso MS, Papadatou current issues and future B, Bracci F, Knafelz D, perspectives. Torre G. Autoimmune hepatitis Cardile S, Alterio T, Autoimmune hepatitis and Minerva Pediatr. 66(6):588- 2014 0,72 Candusso M, homeopathic therapies: "old 90. 3 Pietrobattista A, Liccardo wives' tale" D, Basso MS, Papadatou B, Bracci F, Knafelz D, Torre G. Autoimmune Hepatitis Villalta D, Girolami E, Autoantibody Profiling in a J Clin Lab Anal. 30(1):41-6. 2016 1,54 Alessio MG, Sorrentino Cohort of Pediatric and Adult 9 MC, Tampoia M, Brusca I, Patients With Autoimmune Daves M, Porcelli B, Hepatitis Barberio G, Conte M, Pantarotto L, Bizzaro N; Study Group on Autoimmune Diseases of the Italian Society of Laboratory Medicine, Italy

309

Congenital hepatic Locatelli L, Cadamuro M, Macrophage recruitment by Hepatology. 63(3):965-82. 2016 11,0 First and fibrosis Spirlì C, Fiorotto R, Lecchi fibrocystin-defective biliary 55 correspond S, Morell CM, Popov Y, epithelial cells promotes portal ig authors Scirpo R, De Matteis M, fibrosis in congenital hepatic from Amenduni M, fibrosis University Pietrobattista A, Torre G, of Milan Schuppan D, Fabris L, Strazzabosco M Sarcoma of the liver Merli L, Musini C, Gabor Pitfalls in the surgical Eur J Pediatr Surg. 25(1):132- 2015 0,98 see F, Pariente D, Guerin F management of 7. PAEDIATRI undifferentiated sarcoma of the C CANCERS liver and benefits of preoperative chemotherapy Primary biliary cirrhosis Villalta D, Sorrentino MC, Autoantibody profiling of Clin Chim Acta. 438:135-8. 2015 2,76 First and GIROLAMI ELIA, Porcelli patients with primary biliary 4 correspond B, Barberio G, Bizzaro N cirrhosis using a multiplexed ig authors line-blot assay from other institutions Wilson's Disease Iorio R, Ranucci G. Wilson disease: a matter of J Pediatr Gastroenterol 2015 2,4 AOU copper, but also of zinc. Nutr., 60, 423-424 FEDERICO II NAPOLI Wilson's Disease Ranucci G, Di Dato F, Penicillamine-induced Elastosis J Pediatr Gastroenterol 2017 2,4 Leone F, Vajro P, Perforans Serpiginosa in Wilson Nutr., 64:e72-e73 Spagnuolo MI, Iorio R. Disease: Is Useful Switching to Zinc? Wilson's Disease Ranucci G, Socha P, Iorio Wilson disease: what is still Clin Res Hepatol 2014 1,87 R. unclear in pediatric patients? Gastroenterol., 38, 268-272

Wilson's Disease Ranucci G, Di Dato F, Zinc monotherapy is effective in Orphanet J Rare Dis., 25, 41 2014 6 Spagnuolo MI, Vajro P, Wilson's disease patients with Iorio R. mild liver disease diagnosed in childhood: a retrospective study. 310

Wilson's Disease Dubbioso R, Ranucci G, Subclinical neurological Parkinsonism Relat Disord, 2016 5,2 Esposito M, Di Dato F, involvement does not develop if 24, 15-9 Topa A, Quarantelli M, Wilson's disease is treated Matarazzo M, Santoro L, early. Manganelli F, Iorio R. Wilson's Disease Iorio R, Ranucci G. Aberrance of Serum Zinc and J Pediatr Gastroenterol 2016 3,2 Free Copper Level in Wilson Nutr., 62:e46 Disease. Shwachman-Diamond Veropalumbo C, Shwachman-Diamond Clin Res Hepatol 2015 1,87 Università syndrome Campanozzi A, De syndrome with autoimmune- Gastroenterol., 39, e1-4 Salerno Gregorio F, Correra A, like liver disease and Raia V, Vajro P. enteropathy mimicking celiac disease. Liver diseases, general Vajro P, Ferrante L, Lenta Management of adults with Dig Liver Dis. 2014 2014 2,7 S, Mandato C, Persico M. paediatric-onset chronic liver Apr;46(4):295-301 disease: strategic issues for transition care. Wilson's Disease Loudianos G, Zappu A, Acute Liver Failure Because of J Pediatr Gastroenterol 2016 2,4 OSPEDALE Lepori MB, Dessì V, Wilson Disease With Nutr., 63, e23-e24 MICROCITE Mameli E, Orrù S, Podda Overlapping Autoimmune MIE RA, De Virgiliis S. Hepatitis Features: The CAGLIARI Coexistence of Two Diseases? Wilson's Disease Loudianos G, Lepori MB, Wilson's disease. Pril (Makedon Akad Nauk 2014 1,1 Mameli E, Dessì V, Zappu Umet Odd Med Nauki). A. 2014;35(1):93-8. Wilson's Disease Mameli E, Lepori MB, Wilson's disease caused by Gene, 15:276-279 2015 2,13 Chiappe F, Ranucci G, Di alternative splicing and Alu Dato F, Iorio R, Loudianos exonization due to a G. homozygous 3039-bp deletion spanning from intron 1 to exon 2 of the ATP7B gene.

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Biliary Atresia Sciveres M, Milazzo A scoring system for biliary J Hepatol, 62, 985-986 2015 11,3 ISMETT MP, Maggiore G. atresia: is this the right one? 3 Palermo Liver transplant de Ville de Goyet J, Beyond the Milan criteria Lancet Gastroenterol 2017 10,2 Meyers RL, Tiao GM, for liver transplantation Hepatol. ,7, 456-462. Morland B. in children with hepatic tumours. Liver diseases, general Giordano P, Francavilla Hepatic angiodynamic profile in Vasa. 2017 May;46(3):195- 2017 0,6 AO Bari M, Buonamico P, paediatric patients with 202. Suppressa P, Lastella P, hereditary haemorrhagic Sangerardi M, Miniello telangiectasia type 1 and type 2. VL, Scardapane A, Lenato GM, Sabbà C. Autoimmune hepatitis Praticò AD, Salafia Autoimmune hepatitis: clinical Minerva Pediatr. 2016 2016 0,53 AO S, Praticò ER, Franzonello findings in six pediatric patients. Dec;68(6):503-505. Catania C, Barone P, Leonardi S.

312

Trial clinici farmacologici

Lo stato dell’arte sullo sviluppo dei farmaci per malattie rare del fegato in età pediatrica con la partecipazione alle sperimentazioni di gruppi italiani L’epatologia pediatrica è una branca di nicchia della pediatria che copre malattie per lo più sono rare. Negli ultimi anni i ricercatori Italiani hanno preso parte a trial clinici per lo più coordinati in ambito europeo. Di seguito l’elenco dei trial in corso in Italia.

1 2 3 4 5 6 7 8

Partners Ruolo Durata Nome MR Sponsor Denominazione del trial Farmaco Note

I N C P C T (anno) Wilson Disease Wilson Therapeutics X X X Efficacy and Safety Study of WTX101 in Wilson WTX101 X - AB Disease Patients (WTX101-301) Wilson Disease Univar BV X X X Study to Assess Long-Term Outcomes of Trientine X NCT02426905 Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine LAL-deficiency Alexion X X X A Multicenter Study of SBC-102 (Sebelipase Sebelipase X NCT01757184 Pharmaceuticals Alfa) in Patients With Lysosomal Acid Alfa Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Crigler-Najjar Promethera X X X Safety Study of HepaStem for the Treatment HepaSTem X NCT01765283 Syndrome Biosciences of Crigler-Najjar Syndrome (CN) (HEP001) Familial Shire X X X A Long-Term, Open-Label Study LUM001 X NCT02160782 Cholestasis of LUM001 With a Double-Blind, Placebo Controlled, Randomized Drug Withdrawal Period to Evaluate Safety and Efficacy in Children With Alagille Syndrome (ICONIC) Familial X X X Meta-analysis of individual patient data of PFIC biliary X H7032 Cholestasis before and after surgery (bile diversion or liver diversion NAPPED transplantation) Study Genetic Sahlgrenska X X X IBAT Inhibitor A4250 for Cholestatic Pruritus A4250 X NCT02360852 Cholestasis University Hospital, Sweden

313

Partecipazione Nazionale a ERN

La ricognizione dei centri pediatrici che sono stati accettati nella rete europea di riferimento (ERN) per le malattie epatiche in età pediatrica

A livello nazionale da oltre 25 anni la SIGENP (Società di Gastroenterologia pediatrici con patologie epatiche a Centri altamente specializzati nella Epatologia e Nutrizione Pediatrica), riunisce medici, ricercatori e operatori gestione e cura di queste patologie. La malattie d’interesse pediatrico sanitari che si dedicano allo studio e alla cura delle malattie di fegato nel incluse al momento nella rete fegato sono: il deficit di alfa1-antitripsina, la bambino. malattia di Wilson, le malattie cistiche del fegato, l’atresia delle vie biliari, le colestasi genetiche, le malattie vascolari del fegato, l’epatite autoimmune, Tra gli obiettivi della Società ci sono: la promozione di studi di fisiopatologia la colangite sclerosante. dell'intestino, del fegato, del pancreas e di nutrizione clinica in età pediatrica, con particolare attenzione agli aspetti multidisciplinar; il Questa rete prevede, mediante la collaborazione tra i diversi Centri Europei supporto alla ricerca e l'educazione sulle cause, sulla prevenzione e sul con specifiche e comprovate competenze, di garantire uniformità di cure e trattamento delle malattie dell'apparato digerente e del fegato; lo sviluppo ridurre le disuguaglianze nell’erogazione dei servizi tra i diversi stati di relazioni scientifiche con le altre società italiane e internazionali e le europei. Questa rete affronta le malattie distinguendole in tre ambiti: attività di ricerca in gastroenterologia, epatologia e nutrizione pediatrica; la malattie patiche autoimmuni (coordinate da Ansgar Lohse, Deidre Kelly- cooperazione scientifica con l’industria al fine di facilitare il raggiungimento referente pediatrcio), le malattie metaboliche e l’atresia delle vie biliari degli scopi societari. (coordinate da Ekkehard Strum, anche referente pediatrico) e le malattie strutturali del fegato (coordinate dal Joost Drenth, Dott. Ssa Valerie Mc Lin In ambito delle malattie rare l’obiettivo principale della SIGENP è il referente pediatrico). miglioramento della cooperazione tra gli esperiti Italiani e la facilitazione degli studi multicentrici in questo ambito. Inoltre la SIGENP si sta La rete ha già incorporato nelle sue attività 5 registri di malattie. Questa impegnando per migliorare la qualità dell’assistenza nelle malattie rare rete unendo le cure in età pediatrica con quelle dell’età adulta dovrebbe gastroeneterologiche ed epatologiche tramite l’elaborazione e svolgere un ruolo fondamentale soprattutto nella gestione dei problemi l’applicazione di protocolli comuni nazionali e internazionali, la divulgazione legati alla transizione. L’ERN-Rare liver ha tra gli obiettivi l’implementazione della conoscenza in questo campo, la formazione degli operatori e la delle linee guida sulle cure in collaborazione con l’EASL e l’ESPGHAN. La collaborazione con le associazioni dei genitori. rete include 28 Centri Membri di 11 diverse Nazioni

A livello internazionale è stata recentemente istituita una rete di Europee. I Centri Italiani che hanno ottenuto l’endorsement ministeriale riferimento europea per le malattie rare del fegato (Ern Rare Liver) sono 7 e rappresentano alcuni dei principali Centri SIGENP che gestiscono i coordinata dalla David Jones (The Newcastle upon Tyne Hospitals NHS pazienti pediatrici italiani affetti da patologia del fegato. Foundation Trust, United Kingdom) per garantire l’accesso a tutti i pazienti 314

Centers Member Minister of Health Endorsed Center

AOU Padova (pediatric+adult) AOU Federico II Napoli (pediatric) San Paolo e San Carlo Milano (adult) IRCCS Ca' Granda Milano (pediatric) San Gerardo Monza (adult) ISMETT Palermo (pediatric+adult) Città della salute e della scienza Torino (pediatric+adult) Policlinico Bari (adult) Bambino Gesù Roma (pediatric) Ospedale Sant'Orsola Malpighi Bologna (adult)

315

Malattie rare in età pediatrica: Ricerca, farmaci orfani e reti europee di riferimento

Malattie genetiche pediatriche e sindromi malformative A cura della Società Italiana di di Malattie Genetiche Pediatriche e Disabilità Congenite - SIMGePeD (Presidente: Andrea Bartuli)

Daniela Melis Francesca Rocchi Giuseppe Zampino

316

Pubblicazioni

Developmental Neurology Division, Carlo Besta Neurological Institute, I.R.C.C.S. Foundation, Milan, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Dysmorphic Alfei E, Raviglione F, Franceschetti Seizures and EEG features in 74 Am J Med Genet A. 2014 2014 2.3 syndromes S, D'Arrigo S, Milani D, Selicorni A, patients with genetic-dysmorphic Dec;164A(12):3154-61. Riva D, Zuffardi O, Pantaleoni C, syndromes doi: Binelli S. 10.1002/ajmg.a.36746. Epub 2014 Sep 24. PubMed PMID: 25257908.

UOC Malattie Rare e Genetica Medica/Dipartimento Pediatrico Universitario Ospedaliero/ Ospedale Pediatrico Bambino Gesù IRCCS 1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Down syndrome Diletta Valentini, M.D.; Anna Alisi; Non-alcoholic fatty liver disease in The Journal of Pediatrics 2017 3.9 Chiara Di Camillo, MD; Maria Rita Italian children with Down in press Sartorelli, MD; Annalisa Crudele; syndrome: prevalence and Andrea Bartuli, MD; Valerio Nobili, correlation with obesity-related MD, PhD; Alberto Villani, MD, PhD features The Journal of Pediatrics in press Williams syndrome De Lorenzo F, Macchiaiolo M, The work experience of Orphanet J Rare Dis. 2017 2017 3.3 Carlevaris CM, Bartuli A. a patient affected by Williams May 31;12(1):107. Syndrome: a pilot project at the Bambino Gesù Children's Hospital.

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Lipoprotein Lipase Buonuomo PS, Malamisura M, Eruptive Xanthomas in Lipoprotein J Pediatr. 2017 May 18. 2017 3.9 Deficiency Macchiaiolo M, Rana I, Gonfiantini Lipase Deficiency. pii: S0022- MV, Mastrogiorgio G, Bartuli A. J Pediatr. 2017 May 18. pii: S0022- 3476(17)30515-2 3476(17)30515-2 Hypercholesterolemi Buonuomo PS, Iughetti L, Pisciotta Timely diagnosis of Atherosclerosis. 2017 2017 3.9 a L, Rabacchi C, Papadia F, Bruzzi P, sitosterolemia by next generation May 4;262:71-77. Tummolo A, Bartuli A, Cortese C, sequencing in two children with Bertolini S, Calandra S. severe hypercholesterolemia. Down syndrome Buonuomo PS, Bartuli A, Lipid profiles in a large cohort of Eur J Med Genet. 2016 2016 1 Mastrogiorgio G, Vittucci A, Di Italian children with Down syndrome. Aug;59(8):392-5 Camillo C, Bianchi S, Pires Marafon D, Villani A, Valentini D. Hypertriglyceridemi Buonuomo PS, Bartuli A, Rabacchi A 3-day-old neonate with severe J Clin Lipidol. 2015 Mar- 2015 4.9 a C, Bertolini S, Calandra S. hypertriglyceridemia from novel Apr;9(2):265-70. mutations of the GPIHBP1 gene. Bazex-Duprè- Gonfiantini MV, Armando M, Borderline cognitive Am J Med Genet A. 2015 2015 2 Christol syndrome Pucciarini ML, Macchiaiolo M, level in a family with Bazex-Dupré- Jul;167(7):1637-43. Buonuomo PS, Diociaiuti A, Lepri Christol syndrome. FR, Sirleto P, Vicari S, Bartuli A. Erythropoietic Buonuomo PS, Macchiaiolo M, Erythropoietic protoporphyria in a Arch Dis Child. 2015 2015 3.2 protoporphyria Gonfiantini MV, Biolcati G, Pitisci boy. Jan;100(1):7. doi: A, Villani A, Bartuli A 10.1136/archdischild- 2014-307082 Stuve Wiedemann Buonuomo PS, Macchiaiolo M, Long-term follow-up in Stuve- Clin Dysmorphol. 2014 2014 1 syndrome Cambiaso P, Rana I, Digilio MC, Wiedemann syndrome: a case report Apr;23(2):45-6. Bartuli A. with articular involvement. Thricho-rhino- Macchiaiolo M, Mennini M, Digilio Thricho-rhino-phalangeal syndrome Am J Med Genet A. 2014 2014 2 phalangeal MC, Buonuomo PS, Lepri FR, and severe osteoporosis: a rare Mar;164A(3):760-3. syndrome Gnazzo M, Grandin A, Angioni A, association or a feature? An effective Bartuli A. therapeutic approach with bisphosphonates.

318

Hypercholesterolemi Macchiaiolo M, Buonuomo PS, Corneal arcus as first sign of familial J Pediatr. 2014 2014 3.9 a Valente P, Rana I, Lepri FR, hypercholesterolemia Mar;164(3):670. doi: Gonfiantini MV, Bartuli A. 10.1016/j.jpeds.2013.10. 045. Klippel-Feil Buonuomo PS, Macchiaiolo M, Persistent neck pain in a girl: Klippel- Arch Dis Child. 2014 3.2 syndrome Colafati GS, Rana I, Tomà P, Feil syndrome. 2014 Mar;99(3):290-1. Gonfiantini MV, Bartuli A.

Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy 1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Microriarrangiament Ronzoni L, Novelli A, Brisighelli G, 2q33.1q34 Deletion in a Girl with Cytogenet Genome Res. 2016 1.4 i cromosomici Peron A, Triulzi F, Bianchi V, Leva E, Brain Anomalies and Anorectal 2016;150(1):23-28. Bedeschi MF Malformation. Moebius syndrome Picciolini O, Porro M, Cattaneo E, Moebius syndrome: clinical features, Ital J Pediatr. 2016 Jun 2016 1.6 Castelletti S, Masera G, Mosca F, diagnosis, management and early 3;42(1):56. doi: Bedeschi MF. intervention. 10.1186/s13052-016- 0256-5. Microriarrangiament Silipigni R, Cattaneo E, Baccarin M, Rare interstitial deletion of Eur J Med Genet. 2016 2016 2.1 i cromosomici Fumagalli M, Bedeschi MF chromosome 2p11.2p12. Report of a Jan;59(1):39-42. new patient with developmental delay and unusual clinical features Microriarrangiament Ronzoni L, Peron A, Bianchi V, Molecular cytogenetic Am J Med 2015 2.3 i cromosomici Baccarin M, Guerneri S, Silipigni R, characterization of a 2q35-q37 Genet A. 2015 Lalatta F, duplication and a 4q35.1-q35.2 Jul;167(7):1551-9. Bedeschi MF. deletion in two cousins: a genotype- phenotype analysis. Rubinstein Taybi Bedeschi MF, Crippa BL, Colombo Unusual prenatal presentation of Am J Med Genet A. 2014 2014 2.3 syndrome L, Guez S, Cerruti M, Fogliani R, Rubinstein-Taybi syndrome: a case Oct;164A(10):2663-6. Gervasini C, Lalatta F. report.

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Ehlers Danlos Bedeschi MF, Bonarrigo F, Manzoni Ehlers-Danlos syndrome versus Ital J Pediatr. 2014 2014 1.6 syndrome F, Milani D, Piemontese MR, Guez cleidocranial dysplasia. May 24;40:49. S, Esposito S

Clinica pediatrica II, Ospedale Pediatrico Microcitemico A.Cao, AO Brotzu, Cagliari 1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Spinocerebellar Borroni B, Di Gregorio E, Orsi L, Clinical and neuroradiological Parkinsonism Relat 2016 3.8 ataxia Vaula G, Costanzi C, Tempia F, features of spinocerebellar ataxia 38 Disord. 2016 Jul;28:80-6. Mitro N, Caruso D, Manes M, (SCA38). Pinessi L, Padovani A, Brusco A, Boccone L. Jeune syndrome Congiu P, Puligheddu M, Gioi G, Respiratory sleep disorders in Jeune Arch Ital Biol. 2015 Jun- 2015 0.7 Marica M, Pani C, Piga S, Marrosu syndrome: a case description. Sep;153(2-3):157-61 F, Boccone L

Unit of Clinical Genetics, San Camillo-Forlanini General Hospital, Rome, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Ehlers Danlos Ritelli M, Morlino S, Giacopuzzi E, A recognizable systemic connective Clin Genet. 2017 Apr 6. 2017 3.3 Syndrome Bernardini L, Torres B, Santoro G, tissue disorder with polyvalvular doi: 10.1111/cge.13032. Ravasio V, Chiarelli N, heart dystrophy and dysmorphism D'Angelantonio D, Novelli A, associated with TAB2 mutations. Grammatico P, Colombi M, Castori M.

320

Ehlers Danlos Morlino S, Dordoni C, Sperduti I, Refining patterns of joint Am J Med Genet A. 2017 2017 2.3 Syndrome Venturini M, Celletti C, Camerota F, hypermobility, habitus, and Apr;173(4):914-929. Colombi M, Castori M orthopedic traits in joint hypermobility syndrome and Ehlers- Danlos syndrome, hypermobility type. Ehlers Danlos Castori M, Tinkle B, Levy H, A framework for the classification of Am J Med Genet 2017 4.5 Syndrome Grahame R, Malfait F, Hakim A. joint hypermobility and related C Semin Med Genet. 2017 conditions. Mar;175(1):148-157. Ehlers Danlos Ritelli M, Morlino S, Giacopuzzi E, Ehlers-Danlos syndrome with lethal Am J Med Genet A. 2017 2.3 Syndrome Carini G, Cinquina V, Chiarelli N, cardiac valvular dystrophy in males 2017 Jan;173(1):169-176. Majore S, Colombi M, Castori M. carrying a novel splice mutation in FLNA. palmoplantar Castori M, Morlino S, Sana ME, Clinical and molecular Clin Exp Dermatol. 2016 1.6 keratoderma Paradisi M, Tadini G, Angioni A, characterization of two patients with Aug;41(6):632-5. Malacarne M, Grammatico P, palmoplantar keratoderma- Iascone M, Forzano F. congenital alopecia syndrome type 2. Ehlers Danlos Castori M. Ehlers-Danlos syndrome(s) Am J Med Genet A. 2016 2016 2.3 Syndrome mimicking child abuse: Is there an Jul;170(7):1947 impact on clinical practice? Mosaicism Castori M, Tadini G. Discoveries and controversies in G Ital Dermatol Venereol. 2016 1.3 cutaneous mosaicism. 2016 Jun;151(3):251-65

Aneuploidie Castori M, Servadei F, Laino L, Axial skeletogenesis in human Am J Med Genet A. 2016 2016 2.3 Pascolini G, Fabbri R, Cifani AE, autosomal aneuploidies: A Mar;170(3):676-87. Sforzolini GS, Silvestri E, radiographic study of 145 second Grammatico P trimester fetuses. Campomelic Castori M, Bottillo I, Morlino S, Variability in a three-generation Birth Defects Res A Clin 2016 1.8 dysplasia Barone C, Cascone P; Pediatric family with Pierre Robin sequence, Mol Teratol. 2016 Craniofacial Malformation acampomelic campomelic dysplasia, Jan;106(1):61-8. (PECRAM) Study Group., and intellectual disability due to a Grammatico P, Laino L. novel 1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.∼ 321

Ehlers Danlos Castori M. Ehlers-Danlos syndrome(s) Am J Med Genet C Semin 2015 4.5 Syndrome mimicking child abuse: Is there an Med Genet. 2015 impact on clinical practice? Dec;169(4):289-92. Ehlers Danlos Sinibaldi L, Ursini G, Castori M. Psychopathological manifestations Am J Med Genet C Semin 2015 4.5 Syndrome of joint hypermobility and joint Med Genet. 2015 hypermobility syndrome/ Ehlers- Mar;169C(1):97-106 Danlos syndrome,hypermobility type: The link between connective tissue and psychological distress revised. Ehlers Danlos Castori M, Morlino S, Pascolini G, Gastrointestinal and nutritional Am J Med Genet C Semin 2015 4.5 Syndrome Blundo C, Grammatico P issues in joint hypermobility Med Genet. 2015 syndrome/Ehlers-Danlos syndrome, Mar;169C(1):54-75. hypermobility type. Ehlers Danlos Castori M, Colombi M. Generalized joint hypermobility, Am J Med Genet C Semin 2015 4.5 Syndrome joint hypermobility syndrome and Med Genet. 2015 Ehlers-Danlos syndrome, Mar;169C(1):1-5. hypermobility type. Cerebro dermato Castori M, Pascolini G, Parisi V, Microcephaly, ectodermal dysplasia, Am J Med Genet A. 2015 2015 2.3 osseous dysplasia Sana ME, Novelli A, Nürnberg P, multiple skeletal anomalies and Apr;167A(4):842-51 Iascone M, Grammatico P. distinctive facial appearance: delineation of cerebro-dermato- osseous-dysplasia. Ehlers Danlos Castori M, Morlino S, Ghibellini G, Connective tissue, Ehlers-Danlos Am J Med Genet C Semin 2015 4.5 Syndrome Celletti C, Camerota F, Grammatico syndrome(s), and head and cervical Med Genet. 2015 P. pain. Mar;169C(1):84-96. Ehlers Danlos Castori M, Dordoni C, Morlino S, Spectrum of mucocutaneous Am J Med Genet 2015 4.5 Syndrome Sperduti I, Ritelli M, Valiante M, manifestations in 277 patients with C Semin Med Genet. 2015 Chiarelli N, Zanca A, Celletti C, joint hypermobility Mar;169C(1):43-53. Venturini M, Camerota F, syndrome/Ehlers-Danlos syndrome, Calzavara-Pinton P, Grammatico hypermobility type. P, Colombi M.

322

Ehlers Danlos Ghibellini G, Brancati F, Castori M. Neurodevelopmental attributes of Am J Med Genet C Semin 2015 4.5 Syndrome joint hypermobility Med Genet. 2015 syndrome/Ehlers-Danlos syndrome, Mar;169C(1):107-16. hypermobility type: Update and perspectives. Ehlers Danlos Castori M, Voermans NC Neurological manifestations of Iran J Neurol. 2014 Oct 2014 1 Syndrome Ehlers-Danlos syndrome(s): A 6;13(4):190-208. review. Ehlers Danlos Castori M, Dordoni C, Valiante M, Nosology and inheritance pattern(s) Am J Med Genet A. 2014 2014 2.3 Syndrome Sperduti I, Ritelli M, Morlino S, of joint hypermobility syndrome and Dec;164A(12):3010-20. Chiarelli N, Celletti C, Venturini M, Ehlers-Danlos syndrome, Camerota F, Calzavara-Pinton P, hypermobility type: a study of Grammatico P, Colombi M. intrafamilial and interfamilial variability in 23 Italian pedigrees. Nager syndrome Castori M, Bottillo I, A 22-Week-Old Fetus with Nager Mol Syndromol. 2014 1 D'Angelantonio D, Morlino S, De Syndrome and Congenital Aug;5(5):241-4. Bernardo C, Scassellati Sforzolini G, Diaphragmatic Hernia due to a Novel Silvestri E, Grammatico P. SF3B4 Mutation. Microriarrandiamen Castori M, Bottillo I, Laino L, An additional patient with 3q27.3 J Child Neurol. 2015 1.4 ti Morlino S, Grammatico B, microdeletion syndrome. Mar;30(4):500-4. Grammatico P Ehlers Danlos Castori M, Morlino S, Grammatico Towards a re-thinking of the clinical Am J Med Genet A. 2014 2014 2.3 Syndrome P. significance of generalized joint Mar;164A(3):588-90. hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type. Ehlers Danlos Castori M, Morlino S, Ritelli M, Late diagnosis of lateral meningocele Am J Med Genet A. 2014 2014 2.3 Syndrome Brancati F, De Bernardo C, Colombi syndrome in a 55-year-old woman Feb;164A(2):528-34 M, Grammatico P. with symptoms of joint instability and chronic musculoskeletal pain.

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Department of Pediatrics, "Sapienza", University of Rome, Rome, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Osteogenesis D'Eufemia P, Finocchiaro R, Serum creatine kinase isoenzymes in Osteoporos Int. 2017 2017 3.4 imperfecta Zambrano A, Lodato V, Celli L, children with osteogenesis Jan;28(1):339-346. Finocchiaro S, Persiani P, Turchetti imperfecta. A, Celli M. Osteogeneisis Persiani P, Graci J, de Cristo C, Noia Association between Eur Spine J. 2015 Jan 1. 2015 2.1 imperfecta G, Villani C, Celli M. spondylolisthesis and L5 fracture in patients with Osteogenesis Imperfecta.

Department of Medical and Surgical Sciences (DIMEC), Neonatology Unit, St. Orsola-Malpighi Polyclinic, University of Bologna, Bologna, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Down syndrome Pelleri MC, Cicchini E, Locatelli C, Systematic reanalysis of partial Hum Mol Genet. 2016 Jun 2016 6.4 Vitale L, Caracausi M, Piovesan A, trisomy 21 cases with or without 15;25(12):2525-2538. Rocca A, Poletti G, Seri M, Strippoli Down syndrome suggests a small P, Cocchi G. region on 21q22.13 as critical to the phenotype.

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Department of Sciences for Health Promotion and Mother and Child Care, Neonatal Intensive Care Unit, AOUP, University of Palermo, Palermo, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Down syndrome La Placa S, Pinello G, Schierz IAM, Coronary Artery Fistula in Down J Ultrasound Med. 2017 2017 1.544 Giuffrè M, Corsello G. Syndrome: A Hidden Association. Jun;36(6):1282-1283. Congenital CMV Colomba C, Giuffrè M, La Placa S, Congenital cytomegalovirus related Ital J Pediatr. 2016 Dec 2016 1.614 Cascio A, Trizzino M, De Grazia S, intestinal malrotation: a case report. 7;42(1):105. Corsello G. Gastrointestinal Schierz IA, Pinello G, Giuffrè M, La Congenital heart defects in Early Hum Dev. 2016 2016 1.913 malformation Placa S, Piro E, Corsello G newborns with apparently isolated Dec;103:43-47. single gastrointestinal malformation: A retrospective study. Opitz JM, Pavone L, Corsello G. The power of stories in Pediatrics Ital J Pediatr. 2016 Apr 2016 1.614 and Genetics. 5;42:35. Microriarrangiament Corsello G, Salzano E, Vecchio D, Paternal uniparental disomy Am J Med Genet A. 2015 2015 2.082 i Antona V, Grasso M, Malacarne M, chromosome 14-like syndrome due a Dec;167A(12):3130-8. Carella M, Palumbo P, Piro E, maternal de novo 160 kb deletion at Giuffrè M. the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation. Neonatal Screning Burlina AB, Corsello G. . Survey of Italian pediatricians' Ital J Pediatr. 2015 May 2015 1.614 perspectives and knowledge about 29;41:41. neonatal screening. Microriarrangiament Piccione M, Salzano E, Vecchio D, 4p16.1-p15.31 duplication and 4p Eur J Paediatr Neurol. 2015 1.923 i Ferrara D, Malacarne M, Pierluigi terminal deletion in a 3-years old 2015 Jul;19(4):477-83. M, Ferrara I, Corsello G. Chinese girl: Array-CGH, genotype- phenotype and neurological characterization.

325

PTEN Piccione M, Fragapane T, Antona V, Response to Stanich et al.: Am J Med Genet A. 2014 2014 2.159 Giachino D, Cupido F, Corsello G. Correspondence regarding-PTEN Jul;164A(7):1871. hamartoma tumor syndromes in childhood-Description of two cases and a proposal for follow-up protocol. Toxoplasmosi Puccio G, Cajozzo C, Canduscio LA, Epidemiology of Toxoplasma and Ital J Pediatr. 2014 2014 1.523 Cino L, Romano A, Schimmenti MG, CMV serology and of GBS Feb 22;40:23. Giuffrè M, Corsello G. colonization in pregnancy and neonatal outcome in a Sicilian population. Microriarrangiament Palumbo P, Antona V, Palumbo O, Variable phenotype in 17q12 Gene. 2014 Apr 2014 2.138 i Piccione M, Nardello R, Fontana A, microdeletions: clinical and 1;538(2):373-8. Carella M, Corsello G. molecular characterization of a new case.

Developmental Neurology Division, IRCCS Fondazione Istituto Neurologico C. Besta, Milan, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

CGH array D'Arrigo S, Gavazzi F, Alfei E, The Diagnostic Yield of Array J Child Neurol. 2016 2016 1.4 Presente già Zuffardi O, Montomoli C, Corso B, Comparative Genomic Hybridization May;31(6):691-9. in Buzzi E, Sciacca FL, Bulgheroni S, Is High Regardless of Severity of Pantaleoni Riva D, Pantaleoni C. Intellectual Disability/Developmental Delay in Children. Willemsen MA, D'Arrigo S. Little folks, little myelin, and little Neurology. 2014 Nov 2014 8.2 teeth. 18;83(21):1884-5.

326

Pediatrician Systematic, AORN Santobono-Pausilipon, Napoli, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Fraser syndrome De Bernardo G, Giordano M, Di Prenatal diagnosis of Fraser Ital J Pediatr. 2015 Nov 2015 1.6 Toro A, Sordino D, De Brasi D. syndrome: a matter of life or death? 9;41:86. doi: 10.1186/s13052-015- 0195-6.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Kabuki Dentici ML, Barresi S, Niceta M, Clinical spectrum of Kabuki-like Clin Genet. 2017 Apr 4. 2017 3,3 Pantaleoni F, Pizzi S, Dallapiccola B, syndrome caused by HNRNPK doi: 10.1111/cge.13029 Tartaglia M, Digilio MC. haploinsufficiency. Congenital Digilio MC, Marino B. What Is New in Genetics of Front Pediatr. 2016 Dec 2016 2,2 Heart Defects Congenital Heart Defects? 1;4:120.

Noonan Calcagni G, Baban A, Lepri FR, Congenital Genet Med. 2016 2016 8.2 Marino B, Tartaglia M, Digilio MC. heart defects in Noonan syndrome Dec;18(12):1320. and RIT1 mutation. Noonan Calcagni G, Baban A, De Luca E, Coronary artery ectasia in Noonan Am J Med Genet A. 2016 2016 2.3 Leonardi B, Pongiglione G, Digilio syndrome: Report of an individual Mar;170(3):665-9. MC. with SOS1 mutation and literature review. 22q11.2 Digilio MC, Versacci P, Bernardini L, Left ventricular non compaction with Eur J Med Genet. 2015 2015 1.2 Novelli A, Marino B, Dallapiccola B. aortic valve anomalies: A recurrent Aug;58(8):406-8. feature of 22q11.2 distal deletion syndrome. Adams oliver Digilio MC, Marino B, Baban A, Cardiovascular malformations in Am J Med Genet A. 2015 2015 2.3 Dallapiccola B. Adams-Oliver syndrome. May;167A(5):1175-7.

327

Department of Public Health and Pediatrics, University of Torino, Torino 10126, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

CNV Di Gregorio E, Riberi E, Belligni EF, CNVs analysis in a cohort of isolated Clin Genet. 2017 Mar 14. 2017 3,982 Biamino E, Spielmann M, Ala U, and syndromic DD/ID reveals novel doi: 10.1111/cge.13009. Calcia A, Bagnasco I, Carli D, Gai G, genomic disorders, position effects Giordano M, Guala A, Keller R, and candidate disease genes. Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Silengo MC, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB. Beckwith Mussa A, Ferrero GB. Serum alpha-fetoprotein screening Am J Med Genet A. 2017 2017 2,082 Wiedemann for hepatoblastoma in Beckwith- Mar;173(3):585-587. syndrome Wiedemann syndrome.

Noonan Syndrome Baldassarre G, Mussa A, Carli D, Constitutional bone impairment in Am J Med Genet A. 2017 2017 2,082 Molinatto C, Ferrero GB. Noonan syndrome. Mar;173(3):692-698.

Beckwith Mussa A, Molinatto C, Baldassarre Cancer Risk in Beckwith-Wiedemann J Pediatr. 2016 2016 3,890 Wiedemann G, Riberi E, Russo S, Larizza L, Riccio Syndrome: A Systematic Review and Sep;176:142-149. syndrome A, Ferrero GB. Meta-Analysis Outlining a Novel Cited in Science, 2017, (Epi)Genotype Specific Histotype Jan 355 (6321): 122-125. Targeted Screening Protocol. Syndromic Biamino E, Canale A, Lacilla M, Prevention and management of Int J Pediatr 2016 1,125 craniosynostosis Marinosci A, Dagna F, Genitori L, hearing loss in syndromic Otorhinolaryngol. 2016 Peretta P, Silengo M, Albera R, Ferrero craniosynostosis: A case series. Jun;85:95-8. GB. 328

Beckwith Mussa A, Russo S, de Crescenzo A, Fetal growth patterns in Beckwith- Clin Genet. 2016 2016 3,982 Wiedemann Freschi A, Calzari L, Maitz S, Wiedemann syndrome. Jul;90(1):21-7. syndrome Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Silengo MC, Larizza L, Riccio A, Ferrero GB. Beckwith Mussa A, Di Candia S, Russo S, Recommendations of the Scientific Eur J Med Genet. 2016 2016 1,810 Wiedemann Catania S, De Pellegrin M, Di Luzio Committee of the Italian Beckwith- Jan;59(1):52-64. syndrome L, Ferrari M, Tortora C, Meazzini Wiedemann Syndrome Association MC, Brusati R, Milani D, Zampino on the diagnosis, management and G, Montirosso R, Riccio A, Selicorni follow-up of the syndrome. A, Cocchi G, Ferrero GB. Beckwith Mussa A, Ferrero GB. Screening Hepatoblastoma in J Pediatr Hematol Oncol. 2015 1,146 Wiedemann Beckwith-Wiedemann Syndrome: 2015 Nov;37(8):627. syndrome A Complex Issue. Beckwith Mussa A, Russo S, Larizza L, Riccio (Epi)genotype-phenotype Clin Genet. 2015 Jul 3. 2015 3,982 Wiedemann A, Ferrero GB. correlations in Beckwith-Wiedemann doi: 10.1111/cge.12635 syndrome syndrome: a paradigm for genomic medicine. Beckwith Mussa A, Russo S, De Crescenzo A, Epi)genotype-phenotype Eur J Hum Genet. 2016 2016 4,580 Wiedemann Freschi A, Calzari L, Maitz S, correlations in Beckwith-Wiedemann Feb;24(2):183-90. syndrome Macchiaiolo M, Molinatto C, syndrome. Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB. Mazzanti syndrome Baldassarre G, Mussa A, Banaudi E, Phenotypic variability associated Am J Med Genet A. 2014 2014 2,159 Rossi C, Tartaglia M, Silengo M, with the invariant SHOC2 c.4A>G Dec;164A(12):3120-5 Ferrero GB. (p.Ser2Gly) missense mutation.

329

Beckwith Mussa A, Pagliardini S, Pagliardini α-Fetoprotein assay on dried blood Pediatr Res. 2014 2014 2,2314 Wiedemann V, Molinatto C, Baldassarre G, spot for hepatoblastoma screening Dec;76(6):544-8. syndrome Corrias A, Silengo MC, Ferrero GB. in children with overgrowth-cancer predisposition syndromes. CNV Biamino E, Di Gregorio E, Belligni A novel 3q29 deletion associated Am j Med Genet B 2016 3,391 EF, Keller R, Riberi E, Gandione M, with autism, intellectual disability, Neuropsychiatr Genet Calcia A, Mancini C, Giorgio E, psychiatric disorders, and obesity. 2016 Mar, 171B(2) 290-9 Cavalieri S, Pappi P, Talarico F, Fea AM, De Rubeis S,Cirillo Silengo M, Ferrero GB, Brusco A.

Paediatric Department, Salesi Children Hospital, Umberto I Hospital, Polytechnic University of Marche, Ancona, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

22q11 del Ficcadenti A, Zallocco F, Neri R, Bone density assessment in a cohort J Endocrinol Invest. 2015 2015 2.6 Giovannini L, Tirabassi G, Balercia of pediatric patients affected by Oct;38(10):1093-8. G. 22q11DS.

Division of Pediatric, Department of Clinical Sciences, Università Politecnica delle Marche, Ospedali Riuniti, Ancona, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

CHARGE Santoro L, Ficcadenti A, Zallocco F, Cognitive-motor profile, clinical Am J Med Genet A. 2014 2014 Del Baldo G, Piraccini F, Gesuita R, characteristics and diagnosis of Dec;164A(12):3042-51. Ceccarani P, Gabrielli O. CHARGE syndrome: an Italian experience.

330

U.O.C. Malattie Metaboliche Genetica Medica, PO Giovanni XXIII, A.O.U. Policlinico Consorziale, Bari, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Microriarrangiament Fischetto R, Palumbo O, Ortolani F, Clinical and molecular Am J Med Genet A. 2017 2017 2.3 i Palumbo P, Leone MP, Causio FA, characterization of a second family Apr 13. doi: Pesce S, Digilio MC, Carella M, with the 12q14 microdeletion 10.1002/ajmg.a.38253 Papadia F. syndrome and review of the literature. Microriarrangiament Palumbo O, Palumbo P, Leone MP, PARK2 Microduplication: Clinical Mol Syndromol. 2016 2016 1 i Stallone R, Palladino T, Vendemiale and Molecular Characterization of a Oct;7(5):282-286. M, Palladino S, Papadia F, Carella Further Case and Review of the M, Fischetto R Literature.

Struttura Semplice Dipartimentale di Genetica Clinica- Dipartimento Interaziendale Materno-Infantile IRCCS Arcispedale Santa Maria Nuova Reggio Emilia - Hub satellite per le Malattie Rare Pediatriche della Regione Emilia-Romagna

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

17p13.1 Maini I, Ivanovski I, Iodice I, Rosato Endocrinological Abnormalities Are a microduplication S, Pollazzon M, Mussini M, Belligni Main Feature of 17p13.1 syndrome EF, Coutton C, Marinelli M, Barbieri Microduplication Syndrome: A New V, Napoli M, Pascarella R, Sartori C, Case and Literature Review Madia F, Fusco C, Franchi F, Street M, Garavelli L.

331

Mowat-Wilson Garavelli L, Ivanovski I, Caraffi SG, Neuroimaging findings in Mowat- syndrome Santodirocco D, Pollazzon M, Wilson syndrome: a study of 54 Cordelli DM, Abdalla E, Accorsi P, patients. Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, MD, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Gonzaga Tone L,Toutain A, Trimouille A, Valera ET, Schrier Vergano S, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR. Myhre syndrome Garavelli L, Maini I, Baccilieri F, Natural history and life-threatening Ivanovski I, Pollazzon M, Rosato complications in Myhre syndrome S, Iughetti L, Unger S, Superti- and review of the literature. Furga A, Tartaglia M. RIN2 syndrome Rosato S, Syx D, Ivanovski I, RIN2 syndrome: Expanding the Pollazzon M, Santodirocco D, De clinical phenotype Marco L, Beltrami M, Callewaert B, Garavelli L, Malfait F.

332

Hematologic rare Ivanovski I, Garavelli L, Djurić O, Mitotic crossover promotes diseases (TEL-AML1 Ćirović A, Škorić D, Ivanovski PI. leukemogenesis in children born (ETV6-RUNX1) with TEL-AML1 via the generation of fusion gene - genetic loss of heterozygosity at 12p abnormality in childhood Bcell precursor acute lymphoblastic leukemia. Noonan syndrome- LGaravelli, V Cordeddu, S Errico, Noonan Syndrome-Like Disorder like Disorder with P Bertolini, ME Street, S Rosato, with Loose Anagen Hair: a second loose Anagen Hair M Pollazzon , A Wischmeijer,I case with Neuroblastoma (gene SHOC2) Ivanovski, P Daniele, E Bacchini, AA Lombardi, G Izzi, G Biasucci, C Del Rossi, D Corradi, G Cazzaniga, C Dominici, C Rossi, A De Luca, S Bernasconi, R Riccardi, E Legius, M Tartaglia Noonan syndrome- Gargano Giancarlo, Guidotti Hydrops fetalis in a preterm Am J Med Genet A. 2014 like Disorder with Isotta, Balestri Eleonora, newborn heterozygous for the 164A(4):1015-20 2014 IF:2,30 loose Anagen Hair Vagnarelli Federica, Rosato c.4A>G SHOC2 mutation. 4 (gene SHOC2) Simonetta, Comitini Giuseppina, Wischmeijer Anita, La Sala Giovanni Battista, Iughetti Lorenzo, Cordeddu Viviana, Rossi Cesare, Tartaglia Marco, Garavelli Livia.

333

MANCA AFFILIAZIONE

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Complex children Geremia C, De Ioris MA, Crocoli A, Totally implantable venous access J Vasc Access. 2017 May 2017 1.5 Adorisio O, Scrocca R, Lombardi devices in children with medical 24:0. doi: MH, Staccioli S, Stella P, Amendola complexity: preliminary data from a 10.5301/jva.5000727. P, Ciliento G, De Peppo F, Campana tertiary care hospital. A.

Neonatal Intensive Care Unit, AOUP "P. Giaccone", Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro", University of Palermo, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Down syndrome La Placa S, Pinello G, Schierz IAM, Coronary Artery Fistula in Down J Ultrasound Med 2017; 2017 1.544 Giuffrè M, Corsello G. Syndrome: A Hidden Association. 36(6): 1282-1283. infant of diabetic Schierz IAM, Pinello G, Piro E, Transitional hemodynamics in J Matern Fetal Neonatal 2017 1.674 mother Giuffrè M, La Placa S, Corsello G. infants of diabetic mothers by Med 2017; 5: 1-8. targeted neonatal echocardiography, electrocardiography and peripheral flow study. congenital heart Schierz IAM, Piro E, Giuffrè M, Dilated azygos arch mimicking an Early Hum Dev 2017; 2017 1.913 defects Pinello G, Corsello G. aortic arch anomaly during thoracic 20;111: 20-22. surgery. congenital heart Schierz IA, Pinello G, Giuffrè M, La Congenital heart defects in Early Hum Dev 2016; 103: 2016 1.913 defects Placa S, Piro E, Corsello G. newborns with apparently isolated 43-47. single gastrointestinal malformation: A retrospective study. microriarrangiament Vecchio D, Giuffrè M. The Coat-Hanger Angle Sign. J Pediatr 2016; 177: 325- 2016 3.890 i 325.e1.

334 microriarrangiament Corsello G, Salzano E, Vecchio D, Paternal uniparental disomy Am J Med Genet A 2015; 2015 2.082 i Antona V, Grasso M, Malacarne M, chromosome 14-like syndrome due a 167A(12): 3130-8 Carella M, Palumbo P, Piro E, maternal de novo 160 kb deletion at Giuffrè M. the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation. anomalies of penis Cimador M, Catalano P, Ortolano R, The inconspicuous penis in children. Nat Rev Urol 2015; 12(4): 2015 5.957 DSD Giuffrè M. 205-15.

Pierre Robin Salerno S, Gagliardo C, Vitabile S, Semi-automatic volumetric Neuroradiol J 2014; 27(4): 2014 sequence Militello C, La Tona G, Giuffrè M, Lo segmentation of the upper airways 487-94. Casto A, Midiri M. in patients with Pierre Robin sequence.

Paediatric Endocrinology Unit, Paediatric Department 'Sant'Orsola Malpighi' University Hospital, Bologna, Italy; Paediatric Endocrinology Unit, Paediatric Department 'Sant'Orsola Malpighi' University Hospital, Bologna, Italy.

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Pseudohypoparathyr Visconti P, Posar A, Scaduto MC, Neuropsychiatric phenotype in a J Pediatr 2016 0.6 oidism Russo A, Tamburrino F, Mazzanti L. child with Neurosci. 2016 Jul- pseudohypoparathyroidism Sep;11(3):267-270.

RASopathies Tamburrino F, Gibertoni D, Rossi C, Response to long-term growth Am J Med Genet A. 2015 2015 2.3 Scarano E, Perri A, Montanari F, hormone therapy in patients Nov; 167A(11):2786-94. Fantini MP, Pession A, Tartaglia M, affected by RASopathies and growth Mazzanti L. hormone deficiency: Patterns of growth, puberty and final height data. Cromosomopatia D'Alberton F, Assante MT, Foresti Quality of Life and Psychological J Sex Med. 2015 2015 3.2 M, Balsamo A, Bertelloni S, Dati E, Adjustment of Women Living with Jun;12(6):1440-9. Nardi L, Bacchi ML, Mazzanti L. 46,XY Differences of Sex Development. J 335

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Primrose syndrome Casertano A, Fontana P, Hennekam Alterations in metabolic patterns RC, Tartaglia M, Genesio R, Dieber have a key role in diagnosis and TB, Ortega L, Nitsch L, Melis D. progression of primrose syndrome. Cgh array Cappuccio G, Vitiello F, Casertano New insights in the interpretation of A, Fontana P, Genesio R, Bruzzese array-CGH: autism spectrum D, Ginocchio VM, Mormile A, disorder and positive family history Nitsch L, Andria G, Melis D. for intellectual disability predict the detection of pathogenic variants.

Department of Woman, Child Health and Urologic Diseases, AOU S. Orsola-Malpighi, Bologna, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

DSD Cimador M., Catalano P., Ortolano The inconspicuous penis in children Nat Rev Urol. 2015 2015 4.84 Disorders/di R., Giuffrè M. Apr;12(4):205-215. fferences of sex developmen t Gastroschisis Insinga V, Lo Verso C, Antona V, Perinatal management of Journal of Pediatric and 2014 0 Cimador M, Ortolano R, Carta M, gastroschisis Neonatal Individualized La Placa S, Giuffrè M, Corsello G. Medicine 2014;3(1):e030113

336

Developmental Neurology Unit, Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Microriarrangiament Zanzottera C, Milani D, Alfei E, ZC4H2 deletions can cause severe Am J Med Genet 2017 2.082 i Rizzo A, D'Arrigo S, Esposito S, phenotype in female carriers. A. 2017 May;173(5):1358- Pantaleoni C. 1363. Microriarrangiament Natacci F, Alfei E, Tararà L, D'Arrigo Chromosome 17q21.31 duplication Eur J Paediatr Neurol. 2016 1.923 i S, Zuffardi O, Gentilin B, Pantaleoni syndrome: Description of a new 2016 C. familiar case and further delineation Jan;20(1):183-7. of the clinical spectrum. Microriarrangiament D'Arrigo S, Gavazzi F, Alfei E, The Diagnostic Yield of Array J Child Neurol. 2016 2016 1.434 i Zuffardi O, Montomoli C, Corso B, Comparative Genomic Hybridization May;31(6):691-9. Buzzi E, Sciacca FL, Bulgheroni S, Is High Regardless of Severity of Riva D, Pantaleoni C. Intellectual Disability/Developmental Delay in Children.

Unit of Pediatics and Medical Genetics, Oasi Institute (IRCCS), Troina, Enna, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Dysmorphology Schepis C, Romano C. Facies: the value of an old diagnostic G Ital Dermatol Venereol. 2017 1.014 tip in pediatric dermatology. 2017 Apr 19. doi: 10.23736/S0392- 0488.17.05626-7. Down syndrome Salemi M, Barone C, Salluzzo MG, A polymorphism (rs1042522) in TP53 J Matern Fetal Neonatal 2016 1.674 Giambirtone M, Scillato F, Galati gene is a risk factor for Down Med. 2016 Dec 7:1-3. Rando R, Romano C, Morale MC, Syndrome in Sicilian mothers. Ridolfo F, Romano C. Down syndrome Salemi M, Barone C, Morale MC, Killer-specific secretory (Ksp37) gene Neurol Sci. 2016 May; 2016 1.783 Caniglia S, Romano C, Salluzzo MG, expression in subjects with Down's 37(5):793-5. Rando RG, Ragalmuto A, Bosco P, syndrome Romano C

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Division of Pediatric, Department of Clinical Sciences, Università Politecnica delle Marche, Ospedali Riuniti, Ancona, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

CHARGE Santoro L, Ficcadenti A, Zallocco F, Cognitive-motor profile, clinical Am J Med Genet A. 2014 2014 2.3 Del Baldo G, Piraccini F, Gesuita R, characteristics and diagnosis of Dec;164A(12):3042-51. Ceccarani P, Gabrielli O. CHARGE syndrome: an Italian experience.

Clinica Pediatrica Fondazione Policlinico “San Matteo” Università di Pavia

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Ehlers Danlos Lisi C, Monteleone S, Tinelli C, Postural analysis in a pediatric Minerva Pediatr. 2017 2017 0.532 syndrome Rinaldi B, Di Natali G, Savasta S. cohort of patients with Ehlers-Danlos Feb 17. doi: Syndrome: a pilot study. 10.23736/S0026- 4946.17.04681-3. Paediatric clinically Trabatti C, Foiadelli T, Spartà MV, Paediatric clinically isolated Childs Nerv Syst. 2016 2016 1.080 isolated syndromes Gagliardone C, Rinaldi B, Delmonte syndromes: report of seven cases, Jan;32(1):69-77. doi: M, Lozza A, Savasta S. differential diagnosis and literature 10.1007/s00381-015- review 2959-0 Ehlers Danlos Savasta S, Verrotti A, Spartà MV, Unilateral periventricular Epilepsy Behav Case Rep. 2015 ----- syndrome Foiadelli T, Villa MP, Parisi P. heterotopia and epilepsy in a girl 2015 Jun 14;4:27-9. doi: with Ehlers-Danlos syndrome. 10.1016/j.ebcr.2015.05.0 04 Stickler syndrome Savasta S, Salpietro V, Spartà MV, Stickler syndrome associated with Eur J Pediatr. 2015 2015 1.791 Foiadelli T, Laino D, Lobefalo L, epilepsy: report of three cases-8 May;174(5):697-701. doi: Marseglia GL, Verrotti A. 10.1007/s00431-015- 2514-8

338 epilepsy Savasta S, Budetta M, Spartà MV, Gelastic epilepsy without Epilepsy Behav. 2014 2014 2.332 Carpentieri ML, Trasimeni G, Zavras hypothalamic hamartoma: three Aug;37:87-90. doi: N, Villa MP, Parisi P. additional cases. 10.1016/j.yebeh.2014.06. 012 Ehlers Danlos Verrotti A, Spartà MV, Monacelli D, Long-term prognosis of patients with Epilepsia. 2014 2014 4.706 syndrome Porto R, Castagnino M, Russo Ehlers-Danlos syndrome and Aug;55(8):1213-9. doi: Raucci A, Compagno F, Viglio S, epilepsy. 10.1111/epi.12699 Foiadelli T, Nicita F, Grosso S, Spalice A, Chiarelli F, Marseglia G, Savasta S. MANCA AFFILIAZIONE

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Prader Willi Fontana P, Grasso M, Acquaviva F, SNORD116 deletions cause Prader- Clin Genet. 2017 Mar 7. 2017 3.3 syndrome Gennaro E, Galli ML, Falco M, Willi syndrome with a mild doi: 10.1111/cge.13005. Scarano F, Scarano G, Lonardo F. phenotype and macrocephaly. Smith Magenis Acquaviva F, Sana ME, Della First evidence of Smith-Magenis Am J Med Genet A. 2017 2.3 syndrome Monica M, Pinelli M, Postorivo D, syndrome in mother and daughter 2017 Jan;173(1):231-238. Fontana P, Falco MT, Nardone AM, due to a novel RAI mutation. Lonardo F, Iascone M, Scarano G. Prenatal test Lonardo F, Scarano G. The promise of non-invasive prenatal BMJ. 2015 May 2015 20 testing needs to be monitored 14;350:h2518 scientifically. Risk Factors Mastroiacovo P, Nilsen RM, Prevalence of maternal Ital J Pediatr. 2014 Nov 2014 1.6 Leoncini E, Gastaldi P, Allegri V, preconception risk factors: an Italian 23;40:91. Boiani A, Faravelli F, Ferrazzoli F, multicenter survey. Guala A, Madrigali V, Scarano G.

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MANCA AFFILIAZIONE

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Baraitser Winter Cianci P, Fazio G, Casagranda S, Acute myeloid leukemia in Baraitser- Am J Med Genet A. 2017 2017 2.3 syndrome Spinelli M, Rizzari C, Cazzaniga G, Winter cerebrofrontofacial Feb;173(2):546-549. Selicorni A. syndrome. Williams syndrome Decimi V, Fazio G, Dell'Acqua F, Williams syndrome and mature B- Eur J Med Genet. 2016 2016 1.8 Maitz S, Galbiati M, Rizzari C, Leukemia: A random association? Dec;59(12):634-640 Biondi A, Cazzaniga G, Selicorni A.

Microriarrangiament Villa N, Scatigno A, Redaelli S, 14q32.3-qter trisomic segment: a Mol Cytogenet. 2016 Aug 2016 1.5 i cromosomici Conconi D, Cianci P, Farina C, case report and literature review. 5;9:60. doi: Fossati C, Dalprà L, Maitz S, 10.1186/s13039-016- Selicorni A. 0265-5. Carey-Fineman-Ziter Pasetti M, Mazzoleni F, Novelli G, Temporomandibular joint ankylosis Am J Med Genet A. 2016 2016 2.3 syndrome Iascone M, Bozzetti A, Selicorni A. as part of the clinical spectrum of Aug;170(8):2191-5. Carey-Fineman-Ziter syndrome? Cornelia de Lange Mariani M, Decimi V, Bettini LR, Adolescents and adults Am J Med 2016 4.5 syndrome Maitz S, Gervasini C, Masciadri M, affected by Cornelia de Lange Genet C Semin Med Ajmone P, Kullman G, Dinelli M, syndrome: A report of 73 Italian Genet. 2016 Panceri R, Cereda A, Selicorni A. patients. Jun;172(2):206-13. Cornelia de Lange Cereda A, Mariani M, Rebora P, A new prognostic index of severity of Am J Med Genet C Semin 2016 4.5 Sajeva A, Ajmone PF, Gervasini C, intellectual disabilities in Cornelia de Med Genet. 2016 Russo S, Kullmann G, Valsecchi G, Lange syndrome. Jun;172(2):179-89. Selicorni A. Cornelia de Lange Moretto A, Scaravilli V, Ciceri V, Sedation and Am J Med Genet C Semin 2016 4.5 Bosatra M, Giannatelli F, Ateniese general anesthesia for patients with Med Genet. 2016 B, Mariani M, Cereda A, Sosio S, Cornelia De Lange syndrome: A case Jun;172(2):222-8. Zanella A, Pesenti A, Selicorni A. series.

340

Cornelia de Lange Zambrelli E, Fossati C, Turner K, Sleep disorders in Cornelia de Lange Am J Med Genet C Semin 2016 4.5 Taiana M, Vignoli A, Gervasini C, syndrome. Am J Med Genet C Semin Med Genet. 2016 Russo S, Furia F, Masciadri M, Med Genet. 2016 Jun;172(2):214-21. Jun;172(2):214-21. Ajmone P, Kullman G, Canevini MP, Selicorni A. Trisomy 18 Motta S, Sala D, Sala A, Cazzaniga Hodgkin lymphoma in a patient with Am J Med Genet A. 2016 2016 2.3 G, Giudici G, Villa N, Biondi A, mosaic trisomy 18: First clinical Mar;170(3):777-80. Selicorni A. observation. Cornelia de Lange Cavalleri V, Bettini LR, Barboni C, Thrombocytopenia and Am J Med Genet A. 2016 2016 2.3 Cereda A, Mariani M, Spinelli M, Cornelia de Lange syndrome: Still an Jan;170A(1):130-4. Gervasini C, Russo S, Biondi A, enigma? Jankovic M, Selicorni A. RASopathies Gaipa G, Bugarin C, Cianci P, Sarno Peripheral blood cells from children Blood Cancer J. 2015 Jul 2015 4.4 J, Bonaccorso P, Biondi A, Selicorni with RASopathies show enhanced 17;5:e324. doi: A. spontaneous olonies growth in vitro 10.1038/bcj.2015.52. and hyperactive RAS signaling. Cornelia de Lange Bettini LR, Locatelli L, Mariani M, Cervical spine malformation in Am J Med Genet A. 2014 2014 2.3 Cianci P, Giussani C, Canonico F, cornelia de lange syndrome: a report Jun;164A(6):1520-4. Cereda A, Russo S, Gervasini C, of three patients. Biondi A, Selicorni A.

Department of Pediatrics, La Sapienza University of Rome, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Klinefelter Pimpolari L, Liberati N, Martini M, Prenatal genetic counseling in Am J Med Genet A. 2015 2015 2.3 Colloridi F, Radicioni A, Duse M, Klinefelter syndrome: comments on Feb;167A(2):450-4. Tarani L. the article by Lalatta et al. [2013] and a proposal of a new approach.

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Pediatric and Infectious Disease Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Down Syndrome Valentini D, Alisi A, Di Camillo C, Non-alcoholic fatty liver disease in Journal of Pediatrics, in 2017 3.890 Accettato il Sartorelli MR, Crudele A, Bartuli A, Italian children with Down press 30 Maggio Nobili V, Villani A. syndrome: prevalence and 2017 correlation with obesity-related features. Down Syndrome Marasco E, Farroni C, Cascioli S, B-cell activation with CD40L or CpG See comment in PubMed 2017 4.179 Marcellini V, Scarsella M, Giorda E, measures the function of B-cell Commons belowEur J Piano Mortari E, Leonardi L, subsets and identifies specific Immunol. 2017 Scarselli A, Valentini D, Cancrini C, defects in immunodeficient patients. Jan;47(1):131-143. Duse M, Grimsholm O, Carsetti R. Down Syndrome Buonuomo PS, Bartuli A, Lipid profiles in a large cohort of Eur J Med Genet. 2016 2016 1.810 Mastrogiorgio G, Vittucci A, Di Italian children with Down Aug;59(8):392-5 Camillo C, Bianchi S, Pires Marafon syndrome. D, Villani A, Valentini D. Down Syndrome Valentini D, Bianchi S, Di Camillo C, Fatal varicella pneumonia in an Ital J Pediatr. 2016 Nov 2016 1.614 Vittucci AC, Gonfiantini MV, De unvaccinated child with Down 17;42(1):99 Vito R, Villani A. Syndrome: a case report. Down Syndrome Valentini D, Marcellini V, Bianchi S, Generation of switched memory B Vaccine. 2015 Nov 2015 3.413 Villani A, Facchini M, Donatelli I, cells in response to vaccination in 27;33(48):6689-96. Castrucci MR, Marasco E, Farroni C, Down syndrome children and their Carsetti R. siblings. Down Syndrome Carsetti R, Valentini D, Marcellini V, Reduced numbers of switched Eur J Immunol. 2015 2015 4.179 Scarsella M, Marasco E, Giustini F, memory B cells with high terminal Mar;45(3):903-14 Bartuli A, Villani A, Ugazio AG. differentiation potential in Down syndrome.

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UOSA MALATTIE RARE E DIFETTI CONGENITI/ DIPARTIMENTO DONNA BAMBINO/FONDAZIONE POLICLINICO UNIVERSITARIO “A.GEMELLI”

1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Wiedemann Steiner Stellacci E, Onesimo R, Bruselles A, Congenital immunodeficiency in an Am J Med Genet A. 2016 2.3 Zampino Syndrome Pizzi S, Battaglia D, Leoni C, individual with Wiedemann-Steiner Sep;170(9):2389-93 correspondi Zampino G, Tartaglia M. syndrome due to a novel missense ng author mutation in KMT2A Auricolo-condilar Leoni C, Gordon CT, Della Marca G, Respiratory and gastrointestinal Am J Med Genet A. 2016 2.3 syndrome Giorgio V, Onesimo R, Perrino F, dysfunctions associated with Jun;170(6):1471-8. Cianfoni A, Cerchiari A, Amiel J, auriculo-condylar syndrome and a Zampino G homozygous PLCB4 loss-of-function mutation. Costello syndrome Leoni C, Onesimo R, Giorgio V, Understanding Growth Failure in J Pediatr. 2016 2016 3.9 Diamanti A, Giorgio D, Martini L, Costello Syndrome: Increased Mar;170:322-4. Rossodivita A, Tartaglia M, Resting Energy Expenditure. Zampino G Ceroid-lipofuscinosis Di Giacopo R, Cianetti L, Caputo V, Protracted late infantile ceroid J Neurol Sci. 2015 Sep 2015 2.1 La Torraca I, Piemonte F, Ciolfi A, lipofuscinosis due to TPP1 15;356(1-2):65-71. Petrucci S, Carta C, Mariotti P, mutations: Clinical, molecular and Leuzzi V, Valente EM, D'Amico A, biochemical characterization in three Bentivoglio A, Bertini E, Tartaglia sibs. M, Zampino G. Costello syndrome Leoni C, Stevenson DA, Martini L, Decreased bone mineral density in Mol Genet Metab. 2014 2014 3.0 De Sanctis R, Mascolo G, Costello syndrome. Jan;111(1):41-5. Pantaleoni F, De Santis S, La Torraca I, Persichilli S, Caradonna P, Tartaglia M, Zampino G.

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Malattie rare in età pediatrica: Ricerca, farmaci orfani e reti europee di riferimento

Malattie neurologiche e neuromuscolari pediatriche A cura della Società Italiana di Neuropsichiatria dell’Infanzia e dell’Adolescenza - SINPIA (Presidente: Antonella Costantino) e della Società Italiana di Neurologia Pediatrica - SINP (Presidente: Raffaele Falsaperla)

Salvatore De Masi Renzo Guerrini Vincenzo Leuzzi Carlo Minetti Anna Rosati

344

Pubblicazioni MALATTIE NEUROLOGICHE E NEUROMUSCOLARI PEDIATRICHE

Anna Rosati, Salvatore De Masi, Renzo Guerrini Centro di Eccellenza in Neuroscienze, Dipartimento NEURFARBA – Università degli Studi di Firenze, Azienda Ospedaliero-Universitaria A. Meyer, Firenze

Dal 1 gennaio 2014 ad oggi la produzione scientifica del Centro di dell’AOU Meyer, cui fanno riferimento numerosi Centri italiani pediatrici e Eccellenza in Neuroscienze dell’Azienda Ospedaliero-Universitaria (AOU) non. Meyer di Firenze include 193 lavori indicizzati su PubMed. La collaborazione In base alle caratteristiche elettro-cliniche e all’età d’esordio dell’epilessia, del Centro di Eccellenza con centri di ricerca internazionali è documentata le EE possono essere distinte in sindromi (sindrome di Ohtahara, da una serie di lavori scientifici e dalla partecipazione a network (European Encefalopatia mioclonica precoce, Sindrome di West, Sindrome di Dravet, Reference Network on epilepsies) e progetti di ricerca europei ed Sindrome di Lennox-Gastuat). In alcuni casi i criteri elettro-clinici non internazionali (DESIRE, EuroEPINOMICS-RES e PrioMedChild). consentono una chiara definizione sindromica dell’EE, la cui causa può In base ai criteri di selezione (malattia neurologica e neuromuscolare rara inoltre restare sconosciuta. In tali condizioni ancor più difficile appare il con e senza codice di esenzione in Italia) e pubblicazione con leadership tentativo di riconoscimento della condizione quale malattia rara. italiana, 101 articoli sono stati selezionati dagli iniziali 193. In 62/101 lavori Diciannove delle 31 pubblicazioni riguardano EE che non sono ad oggi il Centro di Eccellenza in Neuroscienze ha rivestito ruolo di leadership. ancora presenti in Allegato 7. La maggior produzione scientifica del Centro di Eccellenza in Neuroscienze Le malformazioni cerebrali ed in particolare quelle dello sviluppo corticale è rivolta a patologie neurologiche in cui l’epilessia è il sintomo prevalente, sono alla base delle EE e dell’epilessia farmacoresistente, quest’ultima ad ovvero le encefalopatie epilettiche (EE). Si tratta di condizioni rare di esordio in qualsiasi fascia d’età pediatrica. Tra i diversi quadri malformativi interesse quasi esclusivamente pediatrico e comunque ad esordio in età cerebrali solo alcuni sono presenti nel registro Orphanet e ancora meno in neonatale-infantile, la cui causa può essere malformativa (displasie Allegato 7. corticali, polimicrogiria, ecc) o metabolica (malattie mitocondriali, ecc), su Nell’ambito delle patologie metaboliche, la ricerca scientifica verte base genetica nota o presunta tale, o prettamente genetica, con soprattutto sulla malattia di Fabry, la malattia di Pompe e le patologie interessamento di geni coinvolti nel normale funzionamento neuronale. La mitocondriali. diagnosi di queste condizioni neurologiche rare è facilitata dall’impiego di Vi è infine una discreta attività di ricerca nel campo della malattie vascolari un pannello comprendente i geni coinvolti nelle EE e nelle epilessie e delle patologie di interesse neurochirurgico e oculistico. farmacoresistenti, effettuato presso il Laboratorio di Neurogenetica

345

Pubblicazioni

Centro di Eccellenza in Neuroscienze, Dipartimento NEURFARBA – Università degli Studi di Firenze, Azienda Ospedaliero-Universitaria A. Meyer, Firenze 1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Spina Bifida Giordano F, Spacca B, Danti A, Amenorrhea after Endoscopic Third Pediatr Neurosurg. 2016 0,24 Non presente in Taverna M, Losi S, Stagi S, Ventriculostomy for a Failed Shunt in 51(1):35-41. allegato 7 Genitori L. Spina Bifida: Case Report and Review of the Literature. Craniosynostosis Biamino E, Canale A, Lacilla M, Prevention and management of Int J Pediatr 2016 0,90 First and Marinosci A, Dagna F, Genitori hearing loss in syndromic Otorhinolaryngol. 85:95- corrisponding L, Peretta P, Silengo M, Albera craniosynostosis: A case series. 8. authors from R, Ferrero GB. University of Torino, Torino, Italy. cobalamin C defect Bacci GM, Donati MA, Optical coherence tomography Acta Ophthalmol. 2017 3,16 Pasquini E, Munier F, Cavicchi morphology and evolution in cblC C, Morrone A, Sodi A, Murro disease-related maculopathy in a case V, Garcia Segarra N, Defilippi series of very young patients. C, Bussolin L, Caputo R. OTX2 gene Lonero A, Delvecchio M, A novel OTX2 gene frameshift J Pediatr Endocrinol 2016 0,91 First and Primignani P, Caputo R, mutation in a child with Metab. 29(5):603-605. corresponding Bargiacchi S, Penco S, Mauri L, microphthalmia, ectopic authors from Andreucci E, Faienza MF, pituitary and growth hormone University of Bari, Cavallo L. deficiency. Bari, Italy.

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ROP Cavallaro G, Filippi L, Bagnoli The pathophysiology of retinopathy of Acta Ophthalmol. 2014 3,16 First author from P, La Marca G, Cristofori G, prematurity: an update of previous 92(1):2-20. Fondazione IRCCS Raffaeli G, Padrini L, Araimo G, and recent knowledge. Ca' Granda Fumagalli M, Groppo M, Dal Ospedale Maggiore Monte M, Osnaghi S, Fiorini P, Policlinico - Mosca F. Università degli Studi di Milano, Milan, Italy. Non presente in allegato 7 Retinoschisis Murro V, Caputo R, Bacci GM, Case report of an atypical early onset BMC Ophthalmol. 2017 1,59 First and Sodi A, Mucciolo DP, X-linked retinoschisis in monozygotic 17(1):19. corresponding Bargiacchi S, Giglio SR, Virgili twins. authors from G, Rizzo S. University of Florence, Florence, Italy. Severe infantile Greco A, D'Erme AM, Zamma A further experience of propranolol for Dermatol Ther. 2014 1,09 Non presente in hemangiomas Gallarati B, Caputo R, de severe infantile hemangiomas of the 27(4):198-202. allegato 7 Martino M. face: an observational study. Uveitis Brambilla A, Caputo R, Cimaz Canakinumab for Childhood Sight- J Rheumatol. 43(7):1445- 2016 1,66 Non presente in R, Simonini G. threatening Refractory Uveitis: A Case 1447. allegato 7 Series. Adenosine Deaminase Sauer AV, Hernandez RJ, Alterations in the brain adenosine Sci Rep. 2017 Jan 2017 4,26 First and (ADA) deficiency Fumagalli F, Bianchi V, Poliani metabolism cause behavioral and 11;7:40136. correspondig PL, Dallatomasina C, Riboni E, neurological impairment in ADA- authors from IRCCS Politi LS, Tabucchi A, Carlucci deficient mice and patients. San F, Casiraghi M, Carriglio N, Raffaele Hospital, Cominelli M, Forcellini CA, Milan, Italy. Non Barzaghi F, Ferrua F, Minicucci presente in F, Medaglini S, Leocani L, la allegato 7 Marca G, Notarangelo LD, Azzari C, Comi G, Baldoli C, Canale S, Sessa M, D'Adamo P, Aiuti A.

347

Fabry disease Verrecchia E, Zampetti A, The impact of fever/hyperthermia in Eur J Intern Med. 32:26- 2016 0,19 First and Antuzzi D, Ricci R, Ferri L, the diagnosis of Fabry: A retrospective 30. correspondig Morrone A, Feliciani C, Dagna analysis. authors from A. L, Manna R. Gemelli Policlinic, Catholic University of the Sacred Heart, Rome, Italy. Fabry disease Romani I, Borsini W, Nencini De novo Diagnosis of Fabry Disease J Stroke Cerebrovasc Dis. 2015 1,01 First and P, Morrone A, Ferri L, Frusconi among Italian Adults with Acute 24(11):2588-2595. correspondig S, Donadio VA, Liguori R, Ischemic Stroke or Transient Ischemic authors from Donati MA, Falconi S, Pracucci Attack. NEUROFARBA G, Inzitari D. Department, University of Florence, Italy. Adenosine kinase Staufner C, Lindner M, Dionisi- Adenosine kinase deficiency: J Inherit Metab Dis. 2016 3,31 First author from deficiency Vici C, Freisinger P, expanding the clinical spectrum and 39(2):273-283. University Hospital Dobbelaere D, Douillard C, evaluating therapeutic options. Heidelberg, Makhseed N, Straub BK, Heidelberg, Kahrizi K, Ballhausen D, la Germany and Marca G, Kölker S, Haas D, corresponding Hoffmann GF, Grünert SC, author from Blom HJ. University Hospital Freiburg, Germany. GM1-gangliosidosis Deodato F, Procopio E, The treatment of juvenile/adult GM1- Metab Brain Dis. 2017 2017 2,30 First author from Rampazzo A, Taurisano R, gangliosidosis with Miglustat may Jun 3. Bambino Gesù Donati MA, Dionisi-Vici C, reverse disease progression. Children's Hospital, Caciotti A, Morrone A, Scarpa IRCCS, Rome, Italy M and corresponding author from University Children's Hospital, Padua, Italy. GM1-gangliosidosis and Front S, Biela-Banaś A, Burda (5aR)-5a-C-Pentyl-4-epi-isofagomine: A Eur J Med 2017 3,18 First and Morquio disease type B P, Ballhausen D, Higaki K, powerful inhibitor of lysosomal Chem.126:160-170. correspondig Caciotti A, Morrone A, β-galactosidase and a remarkable authors from 348

Charollais-Thoenig J, chaperone for mutations associated Institut de Chimie Gallienne E, Demotz S, Martin with GM1-gangliosidosis and Morquio Organique et OR. disease type B. Analytique (ICOA), France. Mitochondrial disease Mancuso M, Orsucci D, Redefining phenotypes associated J Neurol. 262(5):1301-9. 2015 3,39 First and Angelini C, Bertini E, Carelli V, with mitochondrial DNA single correspondig Comi GP, Donati MA, Federico deletion. authors from A, Minetti C, Moggio M, University of Pisa, Mongini T, Santorelli FM, Pisa, Italy. Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Ienco EC, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Mitochondrial disease Nesti C, Meschini MC, Additive effect of nuclear and Hum Mol Genet. 2015 6,35 First and Meunier B, Sacchini M, mitochondrial mutations in a patient 24(11):3248-3256. correspondig Doccini S, Romano A, Petrillo with mitochondrial authors from IRCCS S, Pezzini I, Seddiki N, Rubegni encephalomyopathy. Stella Maris, Pisa, A, Piemonte F, Donati MA, Italy. Brasseur G, Santorelli FM. Mitochondrial disease Diodato D, Invernizzi F, Common and Novel JIMD Rep. 15:71-8. 2015 3,36 First and Lamantea E, Fagiolari G, Parini TMEM70 Mutations in a Cohort of correspondig R, Menni F, Parenti Italian Patients with Mitochondrial authors from G, Bollani L, Pasquini E, Donati Encephalocardiomyopathy. Fondazione Istituto MA, Cassandrini D, Santorelli Neurologico "Carlo FM, Haack TB, Prokisch H, Besta", Istituto di Ghezzi D, Lamperti C, Zeviani Ricovero e Cura a M. Carattere Scientifico (IRCCS), Milan, Italy. 349

Pompe Disease Musumeci O, la Marca G, LOPED study: looking for an early J Neurol Neurosurg 2016 2,85 First and Spada M, Mondello S, diagnosis in a late-onset Pompe Psychiatry. 87(1):5-11. correspondig Danesino C, Comi GP, disease high-risk population. authors from Pegoraro E, Antonini G, Department of Marrosu G, Liguori R, Morandi Neurosciences, L, Moggio M, Massa R, University of Ravaglia S, Di Muzio A, Filosto Messina, Messina, M, Tonin Italy. P, Di Iorio G, Servidei S, Siciliano G, Angelini C, Mongini T, Toscano A; Italian GSD II group. Pompe Disease Astrea G, Perazza S, Frosini S, Infantile-Onset Pompe Disease: The J Neuromuscul Dis. 2015 0,55 First and Moretti E, Sacchini M, Dati E, Care Beyond the Cure. 2(s1):S58-S59. correspondig Pecini C, Procopio E, Santorelli authors from IRCCS FM, Donati MA, Battini R. Fondazione Stella Maris, Calambrone, Italy. Spastic paraplegia SPG9 Panza E, Escamilla-Honrubia ALDH18A1 gene mutations cause Brain. 139(Pt 1):e3. 2016 10,29 First and JM, Marco-Marín C, Gougeard dominant spastic paraplegia SPG9: loss correspondig N, De Michele G Morra VB, of function authors from Liguori R, Salviati L, Donati effect and plausibility of a dominant University of of MA, Cusano R, Pippucci T, negative mechanism. Bologna, Italy. Ravazzolo R, Németh AH, Smithson S, Davies S, Hurst JA, Bordo D, Rubio V, Seri M. Primary central nervous Rosati A, Cosi A, Basile M, Mycophenolate mofetil as induction Joint Bone Spine. 2017 2,95 Non presente in system vasculitis Brambilla A, Guerrini R, Cimaz and long-term maintaining treatment 84(3):353-356. allegato 7 R, Simonini G. in childhood: Primary angiitis of the central nervous system.

350

Kaposiform Filippi L, Tamburini A, Berti E, Successful Propranolol Treatment of a Pediatr Blood Cancer. 2016 2,63 Non presente in Hemangioendothelioma Perrone A, Defilippi C, Favre Kaposiform Hemangioendothelioma 63(7):1290-1292. allegato 7 C, Calvani M, Della Bona ML, Apparently Resistant to Propranolol. la Marca G, Donzelli G. ROP Filippi L, Cavallaro G, Bagnoli Propranolol 0.1% eye micro-drops in Pediatr Res. 81(2):307- 2017 2,76 Non presente in P, Dal Monte M, Fiorini P, newborns with retinopathy of 314. allegato 7 Berti E, Padrini L, Donzelli G, prematurity: a pilot clinical trial. Araimo G, Cristofori, Fumagalli M, la Marca G, Della Bona ML, Pasqualetti R, Fortunato P, Osnaghi S, Tomasini B, Vanni M, Calvani AM, Milani S, Cortinovis I, Pugi A, Agosti M, Mosca F. Absence Epilepsy Guerrini R, Melani F, Brancati Dysgraphia as a Mild Expression of PLoS One. 2015 3,54 Non presente in C, Ferrari AR, Brovedani P, Dystonia in Children with Absence 10(7):e0130883. allegato 7 Biggeri A, Grisotto L, Pellacani Epilepsy. S. Autism-epilepsy Ambrosini E, Sicca F, Brignone Genetically induced dysfunctions of Hum Mol Genet. 2014 6,35 Forst author from MS, D'Adamo MC, Napolitano Kir2.1 channels: implications for short 23(18):4875-4886. Istituto Superiore C, Servettini I, Moro F, Ruan Y, QT3 syndrome and autism-epilepsy di Sanità, Guglielmi L, Pieroni S, Servillo phenotype. Rome, Italy and G, Lanciotti A, Valvo G, corresponding Catacuzzeno L, Franciolini F, author from Molinari P, Marchese M, Faculty of Grottesi A, Guerrini R, Medicine, Rome, Santorelli FM, Priori S, Pessia Italy. Non presente M. in allegato 7 Autism-epilepsy Marchese M, Conti V, Valvo G, Autism-epilepsy phenotype with BMC Med Genet. 15:26. 2014 2,38 First and Moro F, Muratori F, Tancredi macrocephaly suggests PTEN, but not correspondig R, Santorelli FM, Guerrini R, GLIALCAM, genetic screening. authors from IRCCS Sicca F. Stella Maris, Pisa, Italy. Non presente in allegato 7

351

Autism-epilepsy Chilosi AM, Brovedani P, Language regression associated with J Child Neurol. 29(6):855- 2014 1,43 First author from Ferrari AR, Ziegler AL, Guerrini autistic regression and 859. IRCCS Stella Maris, R, electroencephalographic (EEG) Pisa, Italy and Deonna T. abnormalities: a prospective study. correspondig author from Unité de Neurologie et de Neuroréhabilitation Pédiatrique CHUV, Lausanne, Switzerland. Non presente in allegato 7 CHRNA2 gene Conti V, Aracri P, Chiti L, Nocturnal frontal lobe epilepsy with Neurology. 84(15):1520- 2015 8,17 Non presente in mutations Brusco S, Mari F, Marini C, paroxysmal arousals due to CHRNA2 1528. allegato 7 Albanese M, Marchi A, Liguori loss of function C, Placidi F, Romigi A, Becchetti A, Guerrini R. Cortical malformations Lenge M, Barba C, Montanaro Relationships Between Morphologic Cereb Cortex. 18:1-11. 2017 8,28 D, Aghakhanyan G, Frijia F, and Functional Patterns in the Guerrini R. Polymicrogyric Cortex. Cortical malformations Anand S, Cicchi R, Giordano F, Multimodal fiber-probe spectroscopy J Biophotonics. 2017 3,82 First and Conti V, Buccoliero AM, allows detecting epileptogenic focal correspondig Guerrini R, Pavone FS. cortical dysplasia in children. authors from University of Florence Cortical malformations Parrini E, Conti V, Dobyns WB, Genetic Basis of Brain Malformations Mol Syndromol. 7(4):220- 2016 Guerrini R. 233. Cortical malformations Bartolini E, Falchi M, Zellini F, The syndrome of polymicrogyria, Neurology. 86(13):1250- 2016 8,17 Parrini E, Grisotto L, thalamic hypoplasia, and epilepsy with 1259. CosottiniM, Posar A, CSWS. Parmeggiani A, Ambrosetto G, Ferrari AR, Santucci M, Salas- Puig J, Barba C, Guerrini R.

352

Cortical malformations Mirzaa GM, Conti V, Timms Characterisation of mutations of the Lancet Neurol. 2015 23,47 AE, Smyser CD, Ahmed S, phosphoinositide-3-kinase regulatory 14(12):1182-1195. Carter M, Barnett S, Hufnagel subunit, PIK3R2, in perisylvian RB, Goldstein A, Narumi- polymicrogyria: a next-generation Kishimoto Y, Olds C, Collins S, sequencing Johnston K, Deleuze JF, study. Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R. Cortical malformations Barkovich AJ, Dobyns WB, Malformations of cortical Cold Spring Harb 2015 9,47 Guerrini R. development and epilepsy. Perspect Med. 5(5):a022392. Cortical malformations Buccoliero AM, Barba C, Expression of glutamine synthetase in Clin Neuropathol. 2015 1,07 Giordano F, Baroni G, Genitori balloon cells: a basis of their 34(2):83-88. L, Guerrini R, Taddei GL. antiepileptic role? Cortical malformations De Ciantis A, Barkovich AJ, Ultra-high-field MR imaging in AJNR Am J Neuroradiol. 2015 3,12 Cosottini M, Barba C, polymicrogyria and epilepsy. 36(2):309-316. Montanaro D, Costagli M, Tosetti M, Biagi L, Dobyns WB, Guerrini R. Cortical malformations Capra V, Biancheri R, Morana Periventricular nodular heterotopia in Am J Med Genet A. 2014 2,08 G, Striano P, Novara F, Ferrero Smith-Magenis syndrome. 164A(12):3142-147. GB, Boeri L, Celle ME, Mancardi MM, Zuffardi O, Parrini E, Guerrini R. Cortical malformations Conti V, Pantaleo M, Barba C, Focal dysplasia of the cerebral cortex Clin Genet. 88(3):241- 2015 3,89 Baroni G, Mei D, Buccoliero and infantile spasms associated with 247. AM, Giglio S, Giordano F, Baek somatic 1q21.1-q44 duplication ST, Gleeson JG, Guerrini R. including the AKT3 gene.

353

Cortical malformations Guerrini R, Dobyns WB. Malformations of cortical Lancet Neurol. 13(7):710- 2014 23,47 development: clinical features and 726. genetic causes. Cortical malformations Barba C, Parrini E, Coras R, Co-occurring malformations of cortical Epilepsia. 55(7):1009- 2014 4,71 Galuppi A, Craiu D, Kluger G, development and SCN1A gene 1019. Parmeggiani A, Pieper T, mutations. Schmitt-Mechelke T, Striano P, Giordano F, Blumcke I, Guerrini R. Dravet syndrome Cetica V, Chiari S, Mei D, Clinical and genetic factors predicting Neurology. 88(11):1037- 2017 8,17 Parrini E, Grisotto L, Marini C, Dravet syndrome in infants with 1044. Pucatti D, Ferrari A, Sicca F, SCN1A mutations. Specchio N, Trivisano M, Battaglia D, Contaldo I, Zamponi N, Petrelli C, Granata T, Ragona F, Avanzini G, Guerrini R. SAWNTAMARIADravet Guerrini R, Striano P. Dravet syndrome: Not just epilepsy. Neurology. 87(3):245- 2016 8,17 syndrome 246.

Dravet syndrome Doccini S, Meschini MC, Mei Mitochondrial respiratory chain Neurol Sci. 36(11):2151- 2015 1,48 First and D, Guerrini R, Sicca F, defects in skin fibroblasts from 2155. correspondig Santorelli patients with Dravet syndrome. authors from IRCCS FM. Stella Maris, Pisa, Italy. Drug-resistant epilepsy Parrini E, Marini C, Mei D, Diagnostic Targeted Resequencing in Hum Mutat. 38(2):216- 2017 5,09 Non presente in Galuppi A, Cellini E, Pucatti D, 349 Patients with Drug-Resistant 225. allegato 7 Chiti L, Rutigliano D, Bianchini Pediatric Epilepsies Identifies C, Virdò S, De Vita D, Bigoni Causative Mutations in 30 Different S, Barba C, Mari F, Montomoli Genes. M, Pisano T, Rosati A; ClinicalStudy Group, Guerrini R.

354

Drug-resistant epilepsy De Liso P, Vigevano F, Effectiveness and tolerability of Epilepsy Res. 127:93-100. 2016 2,75 First and Specchio N, De Palma L, perampanel in children and correspondig Bonanni P, Osanni E, Coppola adolescents with refractory epilepsies- authors from G, Parisi P, Grosso S, Verrotti An Italian observational multicenter Bambino Gesù A, Spalice A, Nicita F, Zamponi study. Children's Hospital, N, Siliquini S, Giordano L, IRCCS of Rome. Martelli P, Guerrini R, Rosati Non presente in A, Ilvento L, Belcastro V, allegato 7 Striano P, Vari MS, Capovilla G, Beccaria F, Bruni O, Luchetti A, Gobbi G, Russo A, Pruna D, Tozzi AE, Cusmai R. Drug-resistant epilepsy Franco V, Canevini MP, Off-label prescribing of antiepileptic CNS Drugs. 28(10):939- 2014 4,91 First and Capovilla G, De Sarro G, drugs in pharmacoresistant epilepsy: a 949. correspondig Galimberti CA, Gatti G, cross-sectional drug utilization study authors from Guerrini R, La Neve A, Rosati of tertiary care centers in Italy. University of Pavia, E, Specchio LM, Striano S, Pavia, Italy. Non Tinuper P, Perucca E. presente in allegato 7 Epileptic Barba C, Darra F, Cusmai R, Congenital disorders of glycosylation Dev Med Child Neurol. 2016 3,61 Non presente in encephalopathies Procopio E, Dionisi Vici C, presenting as epileptic 58(10):1085-1091. allegato 7 Keldermans L, Vuillaumier- encephalopathy with migrating partial Barrot S, Lefeber DJ, Guerrini seizures in infancy. R; CDG Group. Epileptic Mei D, Darra F, Barba C, Optimizing the molecular diagnosis of Epilepsia. 55(11):1748- 2014 4,71 Non presente in encephalopathies Marini C, Fontana E, Chiti L, CDKL5 gene-related epileptic 1753. allegato 7 Parrini E, Dalla Bernardina B, encephalopathy in boys. Guerrini R. FLNA gene mutations Parrini E, Mei D, Pisanti MA, Familial periventricular nodular J Med Genet. 52(6):405- 2015 5,65 Non presente in Catarzi S, Pucatti D, Bianchini heterotopia, epilepsy and Melnick- 412. allegato 7 C, Mascalchi M, Bertini E, Needles Syndrome caused by a single Morrone A, Cavaliere ML, FLNA mutation with combined gain-of- Guerrini R. function and loss-of-function effects.

355

FOXG1 gene mutations Cellini E, Vignoli A, Pisano T, The hyperkinetic movement disorder Dev Med Child Neurol. 2016 3,61 Non presente in Falchi M, Molinaro A, Accorsi of FOXG1-related epileptic-dyskinetic 58(1):93-97. allegato 7 P, Bontacchio A, Pinelli L, encephalopathy. Giordano L, Guerrini R; FOXG1 Syndrome Study Group. GNAO1 encephalopathy Danti FR, Galosi S, Romani M, GNAO1 encephalopathy: Broadening Neurol Genet. 3(2):e143 2017 Non presente in Montomoli M, Carss KJ, the phenotype and evaluating allegato 7 Raymond FL, Parrini E, treatment and outcome. Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R, Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R. Histiocytosis Sieni E, Barba C, Mortilla M, Early Diagnosis and Monitoring of PLoS One. 2015 3,54 Savelli S, Grisotto L, Di Neurodegenerative Langerhans Cell 10(7):e0131635. Giacomo G, Romano K, Fonda Histiocytosis. C, Biggeri A, Guerrini R, Aricò M. Hypermotor epilepsy Tinuper P, Bisulli F, Cross JH, Definition and diagnostic criteria of Neurology. 86(19):1834- 2016 8,17 First author from Hesdorffer D, Kahane P, Nobili sleep-related hypermotor epilepsy. 1842. University of L, Provini F, Scheffer IE, Tassi Bologna, Italy and L, Vignatelli L, Bassetti C, correspondig Cirignotta F, Derry C, author from Gambardella A, Guerrini R, Columbia Halasz P, Licchetta L, University, New Mahowald M, Manni R, York. Non presente Marini C, Mostacci B, Naldi I, in allegato 7 Parrino L, Picard F, Pugliatti M, Ryvlin P, Vigevano F,Zucconi M, Berkovic S, Ottman R.

356

Hypoxic ischemic Filippi L, Fiorini P, Catarzi S, Safety and efficacy of topiramate in J Matern Fetal Neonatal 2017 1,67 Non presente in encephalopathy Berti E, Padrini L, Landucci E, neonates with hypoxic ischemic Med. 28:1-8. allegato 7 Donzelli G, Bartalena L, encephalopathy treated with Fiorentini E, Boldrini A, hypothermia (NeoNATI): a feasibility Giampietri M, Scaramuzzo RT, study. la Marca G, Della Bona ML, Fiori S, TinelliF, Bancale A, Guzzetta A, Cioni G, Pisano T, Falchi M, Guerrini R. Juvenile myoclonic Mumoli L, Tarantino P, No evidence of a role for cystatin B Epilepsia. 56(4):e40-43. 2015 4,71 First and epilepsy Michelucci R, Bianchi A, gene in juvenile myoclonic epilepsy. correspondig Labate A, Franceschetti S, authors from Marini C, Striano P, Gagliardi University Magna M, Ferlazzo E, Sofia V, Graecia Catanzaro, Pennese L, Annesi G, Aguglia Catanzaro, Italy. U, Guerrini R, Zara F, Non presente in Gambardella A; Genetic allegato 7 Commission, Italian League Against Epilepsy. KCNQ2 gene mutations Pisano T, Numis AL, Heavin Early and effective treatment of Epilepsia. 56(5):685-691. 2015 4,71 Non presente in SB, Weckhuysen S, Angriman KCNQ2 encephalopathy. allegato 7 M, Suls A, Podesta B, Thibert RL, Shapiro KA, Guerrini R, Scheffer IE, Marini C, Cilio MR. Mutations in OPA1 Rubegni A, Pisano T, Bacci G, Leigh-like neuroimaging features Eur J Paediatr Neurol. 2017 2,12 First and Tessa A, Battini R, Procopio E, associated with new biallelic 21(4):671-677 correspondig Giglio S, Pasquariello R, mutations in OPA1 authors from IRCCS Santorelli FM, Guerrini R, Stella Maris, Pisa. Nesti C. Non presente in allegato 7

357

Ring chromosome 20 Vignoli A, Bisulli F, Darra F, Epilepsy in ring chromosome 20 Epilepsy Res. 128:83-93. 2016 2,75 First and syndrome Mastrangelo M, Barba C, syndrome. correspondig Giordano L, Turner K, authors from San Zambrelli E, Chiesa V, Bova S, Paolo Hospital of Fiocchi I, Peron A, Naldi I, Milano. Milito G, Licchetta L, Tinuper P, Guerrini R, Dalla Bernardina B, Canevini MP. SCN1A gene mutations Passamonti C, Petrelli C, Mei A novel inherited SCN1A mutation Epilepsy Behav. 43:89-92. 2015 0,92 First and D, Foschi N, Guerrini R, associated with different correspondig Provinciali L, Zamponi N. neuropsychological phenotypes: is authors from there a common core deficit? Department of Neuropsychiatry, Ospedali Riuniti, Ancona, Italy. SLC35A3 Marini C, Hardies K, Pisano T, Recessive mutations in SLC35A3 cause Am J Med Genet. 2017 2,08 Non presente in encephalopathy May P, Weckhuysen S, early onset epileptic encephalopathy 173(4):1119-1123 allegato 7 Cellini E, Suls A, Mei D, Balling with skeletal defects. R, Jonghe PD, Helbig I, Garozzo D; EuroEPINOMICS consortium AR working group, Guerrini R. Spasms Barba C, Mai R, Grisotto L, Unilobar surgery for symptomatic Ann Clin Transl Neurol. 2016 Gozzo F, Pellacani S, Tassi L, epileptic spasms. 4(1):36-45. Francione S, Giordano F, Cardinale F, Guerrini R. Spasms Ronzano N, Valvo G, Ferrari Late-onset epileptic spasms: clinical J Child Neurol. 2015 2015 1,43 First and AR, Guerrini R, Sicca F. evidence and outcome in 34 patients. Feb;30(2):153-9 correspondig authors from IRCCS Stella Maris, Pisa, Italy.

358

Status epilepticus Rosati A, Ilvento L, L'Erario M, Efficacy of ketamine in refractory BMJ Open. 6(6):e011565. 2016 2,56 Non presente in De Masi S, Biggeri A, Fabbro convulsive status epilepticus in allegato 7 G, Bianchi R, Stoppa F, Fusco children: a protocol for a sequential L, Pulitanò S, Battaglia D, design, multicentre, randomised, Pettenazzo A, Sartori S, Biban controlled, open-label, non-profit trial P, Fontana E, Cesaroni E, (KETASER01) MoraD, Costa P, Meleleo R, Vittorini R, Conio A, Wolfler A, Mastrangelo M, Mondardini MC, Franzoni E, McGreevy KS, Di Simone L, Pugi A, Mirabile L, Vigevano F, Guerrini R. Status epilepticus Ilvento L, Rosati A, Marini C, Ketamine in refractory convulsive Epilepsy Behav. 49:343- 2015 0,92 Non presente in L'Erario M, Mirabile L, status epilepticus in children avoids 346. allegato 7 Guerrini R. endotracheal intubation Symptomatic focal Vecchi M, Barba C, De Carlo D, Symptomatic and presumed Epilepsia. 57(11):1808- 2016 4,71 First author from epilepsies Stivala M, Guerrini R, symptomatic focal epilepsies in 1816. University of Padua Albamonte E, Ranalli D, childhood: An observational, and corresponding Battaglia D, Lunardi G, prospective multicentre study. author from Boniver C, Piccolo B, Pisani F, Niguarda Hospital Cantalupo G, Nieddu G, of Milan. Casellato S, Cappanera S, Cesaroni E, Zamponi N, Serino D, Fusco L, Iodice A, Palestra F, Giordano L, Freri E, De Giorgi I, Ragona F, Granata T, Fiocchi I, Bova SM, Mastrangelo M, Verrotti A, Matricardi S, Fontana E, Caputo D, Darra F, Dalla Bernardina B, Beccaria F, Capovilla G, Baglietto MP, Gagliardi A, Vignoli A, Canevini MP, Perissinotto E, Francione S. 359

TITF1 gene mutations Rosati A, Berti B, Melani F, Recurrent drop attacks in early Dev Med Child Neurol. 2015 3,61 Non presente in Cellini E, Procopio E, Guerrini childhood as presenting symptom of 57(8):777-779. allegato 7 R. benign hereditary chorea caused by TITF1 gene mutations. Duchenne Muscular Mazzone ES, Coratti G, Timed Rise from Floor as a Predictor of PLoS One. 2016 3,54 First and Dystrophy Sormani MP, Messina S, Pane Disease Progression in Duchenne 11(3):e0151445. corresponding M, D'Amico A, Colia G, Fanelli Muscular Dystrophy: An Observational author from L, Berardinelli A, Gardani A, Study. Catholic University, Lanzillotta V, D'Ambrosio P, Rome, Italy. Petillo R, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Forcina N, Magri F, Vita G, Palermo C, Donati MA, Procopio E, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Torrente Y, Previtali SC, Bruno C, Politano L, Comi GP, D'Angelo MG, Bertini E, Mercuri E. Duchenne Muscular Pane M, Mazzone ES, Sivo S, Correction: Long Term Natural History PLoS One. 2015 3,54 First and Dystrophy Sormani MP, Messina S, Data in Ambulant Boys with Duchenne 10(12):e0144079. corresponding D'Amico A, Carlesi A, Vita G, Muscular Dystrophy: 36-Month author from Fanelli L, Berardinelli A, Changes. Catholic University, Torrente Y, Lanzillotta V, Rome, Italy. Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Barp A, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Graziano A, Magri F, Palermo C, Rossi F, Donati MA, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E. 360

Duchenne Muscular Pane M, Mazzone ES, Sormani 6 Minute walk test in Duchenne MD PLoS One.9(1):e83400. 2014 3,54 First and Dystrophy MP, Messina S, Vita GL, Fanelli patients with different mutations: 12 corresponding L, Berardinelli A, Torrente Y, month author from D'Amico A, Lanzillotta V, Catholic University, Viggiano E, D'Ambrosio P, Rome, Italy. Cavallaro F, Frosini S, Bello L, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Bianco F, Van der Haawue M, Magri F, Palermo C, Rossi F, Donati MA, Alfonsi C, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali SC, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Morandi L, Gualandi F, Ferlini A, Goemans N, Mercuri E. Myelitis Bianchi A, Bartolini E, Melani Isolated recurrent myelitis in a 7-year- J Neurol. 264(1):179-181. 2017 3,41 Non presente in F, Guerrini R, Mascalchi M. old child with serum aquaporin-4 IgG allegato 7 antibodies. PLA2G6-Associated Mascalchi M, Mari F, Berti B, Fast Progression of Cerebellar Atrophy Cerebellum. 16(3):742- 2017 2,43 Infantile Neuronal Bartolini E, Lenge M, Bianchi in PLA2G6-Associated Infantile 745. Axonal Dystrophy A, Antonucci L, Santorelli FM, Neuronal Axonal Dystrophy. Garavaglia B, Guerrini R. Brain tumor Sardi I, Fantappiè O, la Marca Delivery of doxorubicin across the Cancer Lett. 53(2):242- 2014 6,80 Non presente in G, Giovannini MG, Iorio AL, da blood-brain barrier by ondansetron 247. allegato 7 Ros M, Malvagia S, pretreatment: a study in vitro and in Cardellicchio S, Giunti L, de vivo. Martino M, Mazzanti R. Brain tumor Cardellicchio S, Bacci G, Low-dose cisplatin-etoposide regimen Neuropediatrics.45(1):42- 2014 1,57 Non presente in Farina S, Genitori L, for patients with optic pathway 49. allegato 7 Massimino M, de Martino M, glioma: a Caputo R, Sardi I. report of four cases and literature review. 361

Brain tumor Giunti L, Buccoliero AM, Molecular characterization of Am J Cancer Res. 2016 3,26 Non presente in Pantaleo M, Lucchesi M, paediatric glioneuronal tumours with 6(12):2910-2918. allegato 7 Provenzano A, Palazzo V, neuropil-like islands: a genome-wide Guarducci S, Guidi M, Genitori copy number analysis. L, Zuffardi O, Sardi I, Giglio S. Brain tumor Massimino M, Miceli R, Final results of the second prospective Neuro Oncol. 2016 2,98 First and Giangaspero F, Boschetti L, AIEOP protocol for pediatric 18(10):1451-60. corresponding Modena P, Antonelli M, intracranial author from Ferroli P, Bertin D, Pecori E, ependymoma. Fondazione IRCCS Valentini L, Biassoni Istituto Nazionale V, Garrè ML, Schiavello E, dei Tumori, Milan, Sardi I, Cama A, Viscardi E, Italy. Non presente Scarzello G, Scoccianti S, in allegato 7 Mascarin M, Quaglietta L, Cinalli G, Diletto B, Genitori L, Peretta P, Mussano A, Buccoliero A, Calareso G, Barra S, Mastronuzzi A, Giussani C, Marras CE, Balter R, Bertolini P, Giombelli E, La Spina M, Buttarelli FR, Pollo B, Gandola L. Brain tumor Iorio AL, Ros Md, Fantappiè O, Blood-Brain Barrier and Breast Cancer Anticancer Agents Med 2016 1,61 Non presente in Lucchesi M, Facchini L, Stival Resistance Protein: A Limit to the Chem. 16(7):810-815. allegato 7 A, Becciani S, Guidi M, Favre Therapy of CNS Tumors and C, Martino Md, Genitori L, Neurodegenerative Diseases. Sardi I. Brain tumor Sardi I, Lucchesi M, Becciani S, Absence of human cytomegalovirus Am J Cancer Res. 2015 3,26 Non presente in Facchini L, Guidi M, Buccoliero infection in childhood brain tumors. 5(8):2476-83. allegato 7 AM, Moriondo M, Baroni G, Stival A, Farina S, Genitori L, de Martino M.

362

Brain tumor Stival A, Lucchesi M, Farina S, An infant with hyperalertness, BMC Cancer. 15:616. 2015 3,26 Non presente in Buccoliero AM, Castiglione F, hyperkinesis, and failure to thrive: a allegato 7 Genitori L, de Martino M, rare diencephalic syndrome due to Sardi I. hypothalamic anaplastic astrocytoma. Brain tumor Giunti L, da Ros M, Vinci S, Anti-miR21 oligonucleotide enhances Am J Cancer Res. 2014 3,26 Non presente in Gelmini S, Iorio AL, Buccoliero chemosensitivity of T98G cell line to 5(1):231-42. allegato 7 AM, Cardellicchio S, doxorubicin by inducing apoptosis. Castiglione F, Genitori L, de Martino M, Giglio S, Genuardi M, Sardi I. Brain tumor Giunti L, Pantaleo M, Sardi I, Genome-wide copy number analysis in Am J Cancer Res. 2014 3,26 Non presente in Provenzano A, Magi A, pediatric glioblastoma multiforme. 4(3):293-303. allegato 7 Cardellicchio S, Castiglione F, Tattini L, Novara F, Buccoliero AM, de Martino M, Genitori L, Zuffardi O, Giglio S. Brain tumor Cardellicchio S, Farina S, Successful treatment of metastatic Eur J Pediatr. 2014 1,85 Non presente in Buccoliero AM, Agresti B, βHCG-secreting germ cell tumor 173(8):1011-5. allegato 7 Genitori L, de Martino M, occurring 3 years after total resection Fangusaro J, Sardi I. of a pineal mature teratoma. Spinal tumor Spacca B, Giordano F, Donati Spinal tumors in children: long-term Spine J. 15(9):1949-1955. 2015 0,41 Non presente in P, Genitori L. retrospective evaluation of a series of allegato 7 134 cases treated in a single unit of pediatric neurosurgery.

363

Ospedale Pediatrico Bambino Gesù, Roma

1 2 3 4 5 6 7 Rivista, volume, Nome MR Autori Titolo del lavoro Anno I. F. Note pagine Ataxia Barresi S, Niceta M, Mutations in the IRBIT domain of ITPR1 are a Clin Genet. 91(1):86- 2017 3,89 Alfieri P, Brankovich frequent cause of autosomal dominant 91. V, Piccini G, nonprogressive congenital ataxia Bruselles A, Barone MR, Cusmai R, Tartaglia M, Bertini E, Zanni G Ataxia Calì T, Frizzarin M, The ataxia related G1107D mutation of the Biochim Biophys 2017 5,16 First and correspondig Luoni L, Zonta F, plasma membrane Ca2+ ATPase isoform 3 affects Acta. 1863(1):165- authors from University of Pantano S, Cruz C, its interplay with calmodulin and the 173. Padua Bonza MC, autoinhibition process Bertipaglia I, Ruzzene M, De Michelis MI, Damiano N, Marin O, Zanni G, Zanotti G, Brini M, Lopreiato R, Carafoli E Ataxia Calì T, Lopreiato R, A novel mutation in isoform 3 of the plasma J Biol Chem. 2015 4,57 First and correspondig Shimony J, Vineyard membrane 290(26):16132-41. authors from University of M, Frizzarin M, Ca<sup>2+</sup> Padua Zanni G, Zanotti G, pump impairs cellular Brini M, Shinawi M, Ca<sup>2+</sup> Carafoli E homeostasis in a patient with cerebellar ataxia and laminin subunit 1Î± mutations

364

Ataxia Carletti B, Frataxin silencing inactivates mitochondrial Int J Mol Sci. 2014 2,34 Piermarini E, Tozzi complex I in NSC34 motoneuronal cells and alters 15(4):5789-806. G, Travaglini L, glutathione homeostasis Torraco A, Pastore A, Sparaco M, Petrillo S, Carrozzo R, Bertini ES, Piemonte F Ataxia Germanotta M, Robotic and clinical evaluation of upper limb J Neuroeng Rehabil. 2015 2,74 Vasco G, Petrarca motor performance in patients with Friedreich's 12:41. M, Rossi S, Carniel Ataxia: An observational study S, Bertini E, Cappa P, Castelli E Ataxia Piermarini E, Cartelli Frataxin silencing alters microtubule stability in Hum Mol Genet. 2016 5,99 D, Pastore A, Tozzi motor neurons: implications for Friedreich's 25(19):4288-4301. G, Compagnucci C, ataxia Giorda E, D'Amico J, Petrini S, Bertini E, Cappelletti G, Piemonte F Ataxia Travaglini L, Missense mutations of CACNA1A are a frequent Eur J Paediatr 2017 1,92 Nardella M, cause of autosomal dominant nonprogressive Neurol. 21(3):450- Bellacchio E, congenital ataxia 456. D'Amico A, Capuano A, Frusciante R, Di Capua M, Cusmai R, Barresi S, Morlino S, Fernández- Fernández JM, Trivisano M, Specchio N, Valeriani M, Vigevano F, Bertini E, Zanni G 365

Ataxia Vasco G, Gazzellini Functional and Gait Assessment in Children and PLoS One. 2016 3,06 S, Petrarca M, Lispi Adolescents Affected by Friedreich's Ataxia: A 11(9):e0162463. ML, Pisano A, Zazza One-Year Longitudinal Study M, Della Bella G, Castelli E, Bertini E Behr syndrome Carelli V, Sabatelli Behr syndrome' with OPA1 compound Brain. 138:e321 2015 10,23 M, Carrozzo R, Rizza heterozygote mutations T, Tonon C, Lodi R, Bertini ES Brain Micalizzi A, Poretti Clinical, neuroradiological and molecular Eur J Hum Genet. 2016 4,58 First and corresponding abnormalities A, Romani M, characterization of cerebellar dysplasia with 24(9):1262-7. authors from IRCCS Casa Ginevrino M, Mazza cysts (Poretti-Boltshauser syndrome) Sollievo della Sofferenza T, Aiello C, Zanni G, Hospital, San Giovanni Baumgartner B, Rotondo, see Borgatti R, MALFORMATIONS AND ID Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein A, Mandrile G, Mercuri E, Rating D, Romaniello R, Santorelli FM, Schimmel M, Spaccini L, Teber S, von Moers A, Wente S, Ziegler A, Zonta A, Bertini E, Boltshauser E, Valente EM

366

Brain Parrini E, Mei D, Familial periventricular nodular heterotopia, J Med Genet. 2015 6,34 First and correspondig abnormalities Pisanti MA, Catarzi epilepsy and Melnick-Needles Syndrome caused 52(6):405-12. authors from Meyer S, Pucatti D, by a single FLNA mutation with combined gain- Children's Hospital, Bianchini C, of-function and loss-of-function effects Florence, see Mascalchi M, NEUROLOGICAL Bertini E, Morrone A, Cavaliere ML, Guerrini R Brain Sarubbo S, De Towards a functional atlas of human white Hum Brain Mapp. 2015 5,97 First and correspondig abnormalities Benedictis A, Merler matter 36(8):3117-36. authors from other S, Mandonnet E, institutions Balbi S, Granieri E, Duffau H Dystonia Marras CE, Rizzi M, Pallidotomy for medically refractory status Dev Med Child 2014 3,29 Cantonetti L, dystonicus in childhood Neurol. 56(7):649- Rebessi E, De 56. Benedictis A, Portaluri F, Randi F, Savioli A, Castelli E, Vigevano F Earlyonset Armando M, Psychosocial interventions for very early and Curr Opin 2015 3,94 schizophrenia Pontillo M, Vicari S earlyonset schizophrenia: A review of treatment Psychiatry. efficacy 28(4):312-23. Gilles de la Prontera P, DPP6 gene disruption in a family with Gilles de la Neurogenetics. 2014 2,66 First and corresponding Tourette syndrome Napolioni V, Tourette syndrome 15(4):237-42. authors from University of Ottaviani V, Rogaia Perugia D, Fusco C, Augello B, Serino D, Parisi V, Bernardini L, Merla G, Cavanna A, Donti E

367

Menkes disease Verrotti A., Cusmai Epilepsy in Menkes disease: An electroclinical Epilepsy Res. 2014 2,19 First and corresponding R, Darra F, Martelli long-term study of 28 patients 108(9):1597-603. authors from University of P, Accorsi P, Perugia, see METABOLIC Bergamo S, Bevivino E, Coppola G, Freri E, Grosso S, Matricardi S, Parisi P, Sartori S, Spalice A, Specchio N, Carelli A, Zini D, Bernardina B, Giordano L Movement Nicita F, Travaglini Childhood-onset ATP1A3-related conditions: Parkinsonism Relat 2016 3,79 First and correspondig disorder L, Sabatini S, Report of two new cases of phenotypic spectrum Disord. 30:81-2. authors from Sapienza Garavaglia B, University of Rome Panteghini C, Valeriani M, Bertini E, Nardocci N, Vigevano F, Capuano A Neurodegenerative De Tommaso M, Pain Assessment in Neurodegenerative Diseases Behav Neurol. 2016 1,63 First and correspondig Diseases Arendt-Nielsen L, 2016:2949358. authors from University of Defrin R, Kunz M, Bari Pickering G, Valeriani M Neurodegenerative De Tommaso M, Pain in Neurodegenerative Disease: Current Behav Neurol. 2016 1,63 First and correspondig Diseases Arendt-Nielsen L, Knowledge and Future Perspectives 2016:7576292. authors from University of Defrin R, Kunz M, Turin Pickering G, Valeriani M

368

Neurodegenerative Di Giacopo R, Protracted late infantile ceroid lipofuscinosis due J Neurol Sci. 356(1- 2015 2,47 First and correspondig Diseases Cianetti L, Caputo V, to TPP1 mutations: Clinical, molecular and 2):65-71. authors from University of La Torraca I, biochemical characterization in three sibs Trento, see METABOLIC Piemonte F, Ciolfi A, Petrucci S, Carta C, Mariotti P, Leuzzi V, Valente EM, D'Amico A, Bentivoglio A, Bertini E, Tartaglia M, Zampino G Neurodegenerative Lanciotti A, Megalencephalic leukoencephalopathy with Hum Mol Genet. 2016 5,99 First and correspondig Diseases Brignone MS, subcortical cysts protein-1 regulates epidermal 25(8):1543-58. authors from ISS, Rome Visentin S, De growth factor receptor signaling in astrocytes Nuccio C, Catacuzzeno L, Mallozzi C, Petrini S, Caramia M, Veroni C, Minnone G, Bernardo A, Franciolini F, Pessia M, Bertini E, Petrucci TC, Ambrosini E Neurodegenerative Pastore A, Petrillo S, Systemic Redox Biomarkers in Curr Drug Metab. 2015 2,98 Diseases Piermarini E, Neurodegenerative Diseases 16(1):46-70. Piemonte F

369

Neurodegenerative Petroni M, Sardina The MRN complex is transcriptionally regulated Cell Death Differ. 2016 8,18 First and correspondig Diseases F, Heil C, Sahún- by MYCN during neural cell proliferation to 23(2):197-206. authors from Sapienza Roncero M, control replication stress University of Rome Colicchia V, Veschi V, Albini S, Fruci D, Ricci B, Soriani A, Di Marcotullio L, Screpanti I, Gulino A, Giannini G Neurodegenerative Pezzini F, Bettinetti Transcriptomic Profiling Discloses Molecular and Cell Mol 2017 2,33 First and correspondig Diseases L, Di Leva F, Bianchi Cellular Events Related to Neuronal Neurobiol.37(4):665- authors from University of M, Zoratti E, Differentiation in SH-SY5Y Neuroblastoma Cells 682. Verona Carrozzo R, Santorelli FM, Delledonne M, Lalowski M, Simonati A Neurodegenerative Sferra A, Baillat G, TBCE Mutations Cause Early-Onset Progressive Am J Hum Genet. 2016 10,79 Diseases Rizza T, Barresi S, Encephalopathy with Distal Spinal Muscular 99(4):974-983. Flex E, Tasca G, Atrophy D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E

370

Neurodegenerative Sieni E, Barba C, Early Diagnosis and Monitoring of PLoS One. 2015 3,23 First and correspondig Diseases Mortilla M, Savelli Neurodegenerative Langerhans Cell Histiocytosis 10(7):e0131635. authors from Meyer S, Grisotto L, Di Children's Hospital, Giacomo G, Florence Romano K, Fonda C, Biggeri A, Guerrini R, Aricò M Neurodegenerative Tonduti D, Aiello C, TUBB4A-related hypomyelinating Eur J Paediatr 2016 2,30 First and correspondig Diseases Renaldo F, Dorboz I, leukodystrophy: New insights from a series of 12 Neurol. 20(2):323- authors from Besta Saaman S, patients 30. Foundation IRCCS, Milan Rodriguez D, Fettah H, Elmaleh M, Biancheri R, Barresi S, Boccone L, Orcesi S, Pichiecchio A, Zangaglia R, Maurey H, Rossi A, Boespflug-Tanguy O, Bertini E Neurodegenerative Torraco A, Novel mutations in IBA57 are associated with J Neurol. 264(1):102- 2017 3,41 Diseases Ardissone A, leukodystrophy and variable clinical phenotypes 111. Invernizzi F, Rizza T, Fiermonte G, Niceta M, Zanetti N, Martinelli D, Vozza A, Verrigni D, Di Nottia M, Lamantea E, Diodato D, Tartaglia M, Dionisi- Vici C, Moroni I, Farina L, Bertini E, Ghezzi D, Carrozzo R

371

Neurodegenerative Travaglini L, Aiello Uniparental disomy of chromosome 1 unmasks Brain Dev. 2017 1,79 see METABOLIC Diseases C, Alesi V, Loddo S, recessive mutations of PPT1 in a boy with 39(2):182-183. Novelli A, Tozzi G, neuronal ceroid lipofuscinosis type 1 Bertini E, Leuzzi V, Brancati F Seizures Balestri M, Structural focal temporal lobe seizures in a child Pediatr 2015 1,50 Cappelletti S, with lipoproteinosis Neurol.52(1):104-6. Valeriani M, Vigevano F Seizures Barba C, Darra F, Congenital disorders of glycosylation presenting Dev Med Child 2016 3,62 First and correspondig Cusmai R, Procopio as epileptic encephalopathy with migrating Neurol. 58(10):1085- authors from University of E, Dionisi-Vici C, partial seizures in infancy 91. Florence, see METABOLIC Keldermans L, Vuillaumier-Barrot S, Lefeber DJ, Guerrini R, CDG Group Seizures Battaglia A Spectrum of epilepsy and electroencephalogram Am J Med Genet A. 2016 2,08 First and correspondig ,Bernardini L, patterns in idic (15) syndrome 170(10):2531-9. authors from IRCCS Stella Torrente I, Novelli Maris, Pisa, see A, Scarselli G MALFORMATIONS AND ID

Seizures Bellusci M, Vigabatrin efficacy in GPR56-associated Epilepsia. 2016 4,71 Trivisano M, De polymicrogyria: The role of GABAA receptor 57(8):1337-8. Palma L, Pietrafusa pathway N, Vigevano F, Specchio N Seizures Cappelletti S, Cognitive development in females with PCDH19 Epilepsy Behav. 2015 2,06 Specchio N, gene-related epilepsy 42:36-40. Moavero R, Terracciano A, Pontrelli G, Gentile S, Vigevano F, Cusmai R

372

Seizures Chiusolo F, From intravenous to enteral ketogenic diet in Eur J Paediatr 2016 1,92 Diamanti A, Bianchi PICU: A potential treatment strategy for Neurol. 20(6):843- R, Fusco L, Elia M, refractory status epilepticus 847. Capriati T, Vigevano F, Picardo S Seizures Cianchetti C, Epileptic headache: Need for a better knowledge Headache. 2015 2,76 First and correspondig Vigevano F, Guidetti 55(4):580-1. authors from University of V Cagliari Seizures Compagnucci C, Characterizing PCDH19 in human induced Oncotarget. 2015 6,36 Petrini S, Higuraschi pluripotent stem cells (iPSCs) and iPSC-derived 6(29):26804-13. N, Trivisano M, developing neurons: Emerging role of a protein Specchio N, Hirose involved in controlling polarity during S, Bertini ES, neurogenesis Terracciano A Seizures Coppola G, Besag F, Current role of rufinamide in the treatment of Eur J Paediatr 2014 1,93 First and correspondig Cusmai R, Dulac O, childhood epilepsy: Literature review and Neurol. 18(6):685- authors from other Kluger G, Moavero treatment guidelines 90. institutions R, Nabbout R, Nikanorova M, Pisani F, Verrotti A, Von Stülpnagel C, Curatolo P Seizures Curatolo P, Aronica Early onset epileptic encephalopathy or Eur J Paediatr 2016 2,30 E, Jansen A, Jansen genetically determined encephalopathy with Neurol. 20(2):203- F, Kotulska K, Lagae early onset epilepsy? Lessons learned from TSC 11. L, Moavero R, Jozwiak S

373

Seizures Cusmai R, Verrotti Rufinamide for the treatment of refractory Epilepsy Res. 2014 2,19 A, Moavero R, epilepsy secondary to neuronal migration 108(3):542-6. Curatolo P, disorders Battaglia D, Matricardi S, Spalice A, Vigevano F, Pruna D, Parisi P, D'Aniello A, Di Gennaro G, Coppola G Seizures Granata T, Hemispherotomy in Rasmussen encephalitis: Epilepsy Res. 2014 2,19 First and corresponding Matricardi S, Long-term outcome in an Italian series of 16 108(6):1106-19. authors from Carlo Besta Ragona F, Freri E, patients Neurological Institute, Casazza M, Villani F, Milan Deleo F, Tringali G, Gobbi G, Tassi L, Lo Russo G, Marras CE, Specchio N, Vigevano F, Fusco L Seizures Grosso S, Coppola Efficacy and tolerability of add-on lacosamide in Acta Neurol Scand. 2014 2,44 First and corresponding G, Cusmai R, Parisi children with Lennox-Gastaut syndrome 129(6):420-4. authors from University of P, Spalice A, Foligno Siena S, Verrotti A, Balestri P Seizures Mastrangelo M, Epilepsy in KCNH1-related syndromes Epileptic Disord. 2016 0,94 First and correspondig Scheffer IE, 18(2):123-36. authors from Sapienza Bramswig NC, Nair University of Rome, see LD, Myers CT, MALFORMATIONS AND ID Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V

374

Seizures Matricardi S, Spalice Epilepsy in the setting of full trisomy 18: A Am J Med Genet C 2016 4,47 First and correspondig A, Salpietro V, Di multicenter study on 18 affected children with Semin Med Genet. authors from University of Rosa G, Balistreri and without structural brain abnormalities 172(3):288-95 Chieti - Pescara, see MC, Grosso S, Parisi MALFORMATIONS AND ID P, Elia M, Striano P, Accorsi P, Cusmai R, Specchio N, Coppola G, Savasta S, Carotenuto M, Tozzi E, Ferrara P, Ruggieri M, Verrotti A Seizures Nicita F, Spalice A, The possible use of the L-type calcium channel Expert Rev 2016 2,78 First and correspondig Raucci U, Iannetti P, antagonist verapamil in drug-resistant epilepsy Neurother. 16(1):9- authors from Sapienza Parisi P 15. University of Rome Seizures Pietrafusa N, de Ictal vomiting as a sign of temporal lobe epilepsy Epilepsy Behav. 2015 2,26 Palma L, De confirmed by stereo-EEG and surgical outcome 53:112-6. Benedictis A, Trivisano M, Marras CE, Vigevano F, Specchio N Seizures Pietrafusa N, Peri-ictal water drinking: a rare automatic Epileptic Disord. 2015 0,95 Trivisano M, de behaviour in temporal lobe epilepsy 17(4):384-96. Palma L, Serino D, Moavero R, Benvenga A, Cappelletti S, Boero G, Vigevano F, La Neve A, Specchio N

375

Seizures Pontrelli G, Epilepsy in patients with duplications of Pediatr Neurol. 2014 1,50 see NEUROLOGICAL Cappelletti S, Claps chromosome 14 harboring FOXG1 50(5):530-5. D, Sirleto P, Ciocca L, Petrocchi S, Terracciano A, Serino D, Fusco L, Vigevano F, Specchio N Seizures Serino D, Freri E, Focal seizures versus epileptic spasms in children Epilepsy Res. 2015 2,19 Ragona F, D'Incerti with focal cortical dysplasia and epilepsy onset in 109:203-9. L, Bernardi B, Di the first year Ciommo VM, Granata T, Vigevano F Seizures Serino D, Fusco L Epileptic hypnagogic jerks mimicking repetitive Sleep Med. 2015 3,15 sleep starts 16(8):1014-6. Seizures Specchio N, Occipital seizures induced by Intermittent Photic Seizure. 23(4):309- 2014 2,06 Pontrelli G, Serino Stimulation in Dravet syndrome 13. D, Trivisano M, Cappelletti S, Terracciano A, Vigevano F, Fusco L Seizures Specchio N, Rizzi M, Acute intralesional recording in hypothalamic Acta Neurol Belg. 2015 0,60 see PAEDIATRIC CANCERS Fusco L, Rebessi E, hamartoma: description of 4 cases 115(3):233-9. Cappelletti S, De Palma L, Savioli A, De Benedictis A, Marras CE, Vigevano F, Delalande O

376

Seizures Terracciano A, PCDH19-related epilepsy in two mosaic male Epilepsia. 57(3):e51- 2016 4,71 Trivisano M, Cusmai patients 5. R, De Palma L, Fusco L, Compagnucci C, Bertini E, Vigevano F, Specchio N Seizures Trivisano M, PCDH19-related epilepsy and Dravet Syndrome: Epilepsy Res. 2016 2,24 Pietrafusa N, Face-off between two early-onset epilepsies with 125:32-6. Ciommo Vd, fever sensitivity Cappelletti S, Palma Ld, Terracciano A, Bertini E, Vigevano F, Specchio N Seizures Trivisano M, Extending the use of stiripentol to other epileptic Eur J Paediatr 2015 1,93 Specchio N, syndromes: A case of PCDH19-related epilepsy Neurol. 19(2):248- Vigevano F 50. Seizures Trivisano M, Striano CHD2 mutations are a rare cause of generalized Epilepsy Behav. 2015 2,26 P, Sartorelli J, epilepsy with myoclonic-atonic seizures 51:53-6. Giordano L, Traverso M, Accorsi P, Cappelletti S, Claps DJ, Vigevano F, Zara F, Specchio N Seizures Trivisano M, Mutation of CHRNA2 in a family with benign Epilepsia. 56(5):e53- 2015 4,57 Terracciano A, familial infantile seizures: Potential role of 7. Milano T, nicotinic acetylcholine receptor in various Cappelletti S, phenotypes of epilepsy Pietrafusa N, Bertini ES, Vigevano F, Specchio N

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Seizures Vecchi M, Barba C, Symptomatic and presumed symptomatic focal Epilepsia. 2016 4,71 First and correspondig De Carlo D, Stivala epilepsies in childhood: An observational, 57(11):1808-1816. authors from University of M, Guerrini R, prospective multicentre study Padua Albamonte E, Ranalli D, Battaglia D, Lunardi G, Boniver C, Piccolo B, Pisani F, Cantalupo G, Nieddu G, Casellato S, Cappanera S, Cesaroni E, Zamponi N, Serino D, Fusco L, Iodice A, Palestra F, Giordano L, Freri E, De Giorgi I, Ragona F, Granata T, Fiocchi I, Bova SM, Mastrangelo M, Verrotti A, Matricardi S, Fontana E, Caputo D, Darra F, Dalla Bernardina B, Beccaria F, Capovilla G, Baglietto MP, Gagliardi A, Vignoli A, Canevini MP, Perissinotto E, Francione S

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Seizures Verrotti A, Cusmai Long-term outcome of epilepsy in patients with J Neurol. 262(1):116- 2015 3,84 First and corresponding R, Laino D, Prader-Willi syndrome 23. authors from University of Carotenuto M, Perugia, see Esposito M, MALFORMATIONS AND ID Falsaperla R, Margari L, Rizzo R, Savasta S, Grosso S, Striano P, Belcastro V, Franzoni E, Curatolo P, Giordano L, Freri E, Matricardi S, Pruna D, Toldo I, Tozzi E, Lobefalo L, Operto F, Altobelli E, Chiarelli F, Spalice A Seizures Verrotti A, Laino D, Clinical dissection of childhood occipital epilepsy Eur J 2016 4,06 First and correspondig Rinaldi VE, Suppiej of Gastaut and prognostic implication Neurol.23(2):241-6. authors from University of A, Giordano L, Toldo Perugia I, Margari L, Parisi P, Rizzo R, Matricardi S, Cusmai R, Grosso S, Gaggero R, Zamponi N, Pavone P, Capovilla G, Rauchenzauner M, Cerminara C, Di Gennaro G, Esposito M, Striano P, Savasta S, Coppola G, Siliquini S, Operto F, Belcastro V, Ragona F, Marseglia GL, Spalice A 379

Seizures Villani F, Didato G, Long-term outcome after limited cortical Epilepsia. 55(5):e38- 2014 4,58 First and corresponding Deleo F, Tringali G, resections in two cases of adult-onset Rasmussen 43. authors from Carlo Besta Garbelli R, Granata encephalitis Neurological Institute, T, Marras CE, Milan Cordella R, Spreafico R Spastic paraplegia Nicita F, Bertini E, Congenital-onset spastic paraplegia in a patient Neurol Sci. 368:145- 2016 2,13 First and correspondig Travaglini L, with TUBB4A mutation and mild 6. authors from Sapienza Armando M, Aiello hypomyelination University of Rome C Tuberous sclerosis Curatolo P, The Role of mTOR Inhibitors in the Treatment of Drugs. 76(5):551-65. 2016 4,88 First and correspondig Bjørnvold M, Dill PE, Patients with Tuberous Sclerosis Complex: authors from Tor Vergata Ferreira JC, Feucht Evidence-based and Expert Opinions University of Rome, see M, Hertzberg C, MALFORMATIONS AND ID Jansen A, Jóźwiak S, Kingswood JC, Kotulska K, Macaya A, Moavero R, Nabbout R, Zonnenberg BA Tuberous sclerosis Curatolo P, Neurological and neuropsychiatric aspects of Lancet Neurol. 2015 21,90 First and correspondig Moavero R, de Vries tuberous sclerosis complex 14(7):733-45. authors from Tor Vergata P University of Rome, see MALFORMATIONS AND ID

Tuberous sclerosis Curatolo P, Genotype/Phenotype Correlations in Tuberous Semin Pediatr 2015 2,23 First and correspondig Moavero R, Roberto Sclerosis Complex Neurol. 22(4):259- authors from Tor Vergata D, Graziola F 73. University of Rome, see MALFORMATIONS AND ID

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Tuberous sclerosis Gialloreti LE, Reduction in retinal nerve fiber layer thickness in Childs Nerv Syst. 2015 1,11 First and correspondig Moavero R, tuberous sclerosis complex 31(6):857-61. authors from Tor Vergata Marciano S, Pardini University of Rome, see M, Benassi F, MALFORMATIONS AND ID Mutolo MG, Curatolo P

Tuberous Sclerosis Moavero R, Metastatic Group 3 Medulloblastoma in a Patient Pediatr Blood 2016 2,39 see MALFORMATIONS AND Folgiero V, Carai A, With Tuberous Sclerosis Complex: Case Cancer. 63(4):719- ID Miele E, Ferretti E, Description and Molecular Characterization of 22. Po A, Diomedi the Tumor Camassei F, Lepri FR, Vigevano F, Curatolo P, Valeriani M, Colafati GS, Locatelli F, Tornesello A, Mastronuzzi A Tuberous Sclerosis Moavero R, White matter disruption is associated with Epilepsy Behav. 2016 2,33 see MALFORMATIONS AND Napolitano A, persistent seizures in tuberous sclerosis complex 60:63-7. ID Cusmai R, Vigevano F, Figà-Talamanca L, Calbi G, Curatolo P, Bernardi B Tuberous Sclerosis Moavero R, Mammalian Target of Rapamycin Inhibitors and Semin Pediatr 2015 2,23 see MALFORMATIONS AND Romagnoli G, Life-Threatening Conditions in Tuberous Sclerosis Neurol. 22(4):282- ID Graziola F, Curatolo Complex 94. P

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Trial clinici farmacologici Trial clinici per farmaci orfani per Malattie Rare dell'area specialistica con partecipazione dell'Unità operativa Centro di Eccellenza in Neuroscienze, Dipartimento NEURFARBA – Università degli Studi di Firenze, Azienda Ospedaliero-Universitaria A. Meyer, Firenze

Nel periodo compreso tra il 1 gennaio 2014 ed oggi, risultano in corso 5 trial rufinamide, la fenfluramina e l’allopregnanolone hanno la designazione di clinici riguardanti il trattamento farmacologico dello stato di male epilettico farmaco orfano. Uno dei 5 studi è indipendente. Il Centro di Eccellenza in refrattario e super-refrattario e di due sindromi epilettiche ad esordio Neuroscienze dell’AOU Meyer è coordinatore di 3 dei 5 studi attivi. esclusivamente pediatrico. Quattro sono i farmaci sperimentali, di cui la

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Trial clinici farmacologici Centro di Eccellenza in Neuroscienze, Dipartimento NEURFARBA – Università degli Studi di Firenze, Azienda Ospedaliero-Universitaria A. Meyer, Firenze 1 2 3 4 5 6 7 8 Partners Ruolo Durata Nome MR Sponsor Denominazione del trial Farmaco Note I N C P C T (anno) SINDROME EISAI X X A multicenter, RUFINAMIDE X (2015) LENNOX– randomized,controlled,open - GASTAUT label study to evaluate the cognitive development effects and safety, and pharmacokinetics of adjunctive rufinamide treatment in pediatric subjects 1 to less than 4 years of age with inadequately controlled Lennox – Gastaut Syndrome SINDROME DI ZOGENIX X X Sperimentazione FENFLURAMINA X DRAVET multicentrica, randomizzata, in doppio cieco, a gruppi paralleli, controllata verso placebo di due dosi fisse di soluzione orale ZX008 (fenfluramina cloridrato) come terapia supplementare in bambini e giovani adulti affetti dalla sindrome di Dravet

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SINDROME DI ZOGENIX X X Studio di estensione in aperto FENFLURAMINA X DRAVET per valutare la sicurezza a lungo termine di ZX008 (fenfluramina cloridrato) soluzione orale come terapia supplementare in bambini e adolescenti affetti dalla sindrome di Dravet. STATO EPILETTICO SAGE X X Studio randomizzato, in SAGE-547 X SOLO LA SUPER THERAPEUTICS doppio cieco e controllato PATOLOGIA E’ REFRATTARIO con placebo, volto a valutare DEFINITA RARA, (SRSE) l’efficacia e la sicurezza COME RIPORTATO dell’iniezione di SAGE-547 nel IN CTA FORM trattamento di pazienti affetti da stato di male epilettico super-refrattario (SRSE). STATO DI MALE AOU MEYER X X Efficacia della ketamina nello KETAMINA X n. 10 centri: EPILETTICO stato di male epilettico ANCONA, CONVULSIVO convulsivo refrattario in età BOLOGNA, pediatrica: uno studio FIRENZE, MILANO, multicentrico, randomizzato, PADOVA, ROMA controllato, in aperto, no (OPBG e GEMELLI) profit, con disegno TORINO, TRIESTE, sequenziale. VERONA

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Malattie rare in età pediatrica: Ricerca, farmaci orfani e reti europee di riferimento

Malattie reumatologiche pediatriche A cura di REUMA (Gruppo di studio di Reumatologia Pediatrica della SIP) (Coordinatore: Angelo Ravelli)

Marco Gattorno Francesca Minoia Angelo Ravelli Alberto Tommasini

385

Pubblicazioni Pubblicazioni del Gruppo di Studio di Reumatologia Pediatrica dal 2014 ad oggi

È stata effettuata una revisione delle principali pubblicazioni su riviste peer Le ricerche sono state coordinate da 9 centri specialistici (Istituto G. Gaslini reviwed da parte dei componenti del Gruppo di Studio (Gds) di di Genova, Ospedale Pediatrico Bambino Gesù di Roma, Ospedale Reumatologia Pediatrica. Pediatrico Meyer di Firenze, Istituto Burlo Garofalo di Trieste, Spedali Civili di Brescia, Azienda Ospedaliera di Padova, Istituto G. Pini di Milano, La ricerca è stata effettuata mediante PubMed, inserendo come intervallo Ospedale dei Bambini di Palermo) e hanno complessivamente coinvolto 28 di interesse il periodo dal 01/01/2014 al 16/06/2017 e restringendo la centri in tutta Italia. ricerca alle pubblicazioni originali, escludendo quindi i lavori di review e i case reports. Sono state incluse nell’elenco solo le pubblicazioni scritte o Il 57% delle pubblicazioni ha in oggetto progetti multicentrici; il 68% coordinate da un componente del Gds di Reumatologia Pediatrica. coinvolge solo centri italiani, mentre il restante 32% ha previsto una collaborazione internazionale. Tra le pubblicazioni prevalgono le ricerche in Sono state quindi selezionate 89 pubblicazioni originali: la principale area di ambito clinico (75%) rispetto quelle di laboratorio (25%). ricerca è risultata essere l’artrite idiopatica giovanile e le sue complicanze (uveite e sindrome da attivazione macrofagica), seguita in seconda istanza La maggior parte degli articoli è stato pubblicato su riviste specializzate di dalle patologie autoinfiammatorie. Reumatologia e Immunologia (75%), ma circa il 20% è stato pubblicato su riviste non specialistiche, di cui 3 ad elevato imapct factor quali Lancet e JAMA.

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Pubblicazioni 1 2 3 4 5 6 7 Nome MR Autori Titolo del lavoro Rivista, volume, pagine Anno I. F. Note

Uveitis Simonini G, Bracaglia C, Cattalini M, Predictors of Relapse after Discontinuing J Rheumatol; 44:822- 2017 3.24 Taddio A, Brambilla A, De Libero C, Pires Systemic Treatment in Childhood 826 Marafon D, Caputo R, Cimaz R Autoimmune Chronic Uveitis Arthritis Favalli EG, Pontikaki I, Becciolini A, Real-life 10-year retention rate of first-line Clin Rheumatol; [Epub 2017 2.04 Biggioggero M, Ughi N, Romano M, anti-TNF drugs for inflammatory arthritides in ahead of print] Crotti C, Gattinara M, Gerloni V, adult- and juvenile-onset populations: Marchesoni A, Meroni PL similarities and differences Autoinflammatory Caorsi R, Penco F, Grossi A, Insalaco A, ADA2 deficiency (DADA2) as an unrecognised Ann Rheum Dis; [Epub 2017 12.38 diseases Omenetti A, Alessio M, Conti G, cause of early onset polyarteritis nodosa and ahead of print] Marchetti F, Picco P, Tommasini A, stroke: a multicentre national study. Martino S, Malattia C, Gallizi R, Podda RA, Salis A, Falcini F, Schena F, Garbarino F, Morreale A, Pardeo M, Ventrici C, Passarelli C, Zhou Q, Severino M, Gandolfo C, Damonte G, Martini A, Ravelli A, Aksentijevich I, Ceccherini I, Gattorno M Primary angiitis of Rosati A, Cosi A, Basile M, Brambilla A, Mycophenolate mofetil as induction and long- Joint Bone Spine; 2017 2.94 CNS Guerrini R, Cimaz R, Simonini G term maintaining treatment in childhood: 84:353-356 Primary angiitis of the central nervous system Juvenile Frid P, Nordal E, Bovis F, Giancane G, Temporomandibular Joint Involvement in Arthritis Care Res; 2017 3.23 idiopathic arthritis Larheim TA, Rygg M, Pires Marafon D, De Association With Quality of Life, Disability, 69:677-686 Angelis D, Palmisani E, Murray KJ, Oliveira S, and High Disease Activity in Juvenile Simonini G, Corona F, Davidson J, Foster H, Idiopathic Arthritis Steenks MH, Flato B, Zulian F, Baildam E, Saurenmann RK, Lahdenne P, Ravelli A, Martini A, Pistorio A, Ruperto N; Paediatric Rheumatology International Trials Organisation

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Juvenile Cecchin V, Sperotto F, Balzarin M, Joint hypermobility and oligoarticular juvenile J Paediatr Child Health; 2017 1.47 idiopathic arthritis Vittadello F, Martini G, Zulian F idiopathic arthritis: What relationship? 53:374-377 Juvenile Ravelli A, Davì S, Bracciolini G, Pistorio Intra-articular corticosteroids versus intra- Lancet; 389:909-916 2017 44.0 idiopathic arthritis A, Consolaro A, van Dijkhuizen EH, articular corticosteroids plus methotrexate in Lattanzi B, Filocamo G, Verazza S, oligoarticular juvenile idiopathic arthritis: a Gerloni V, Gattinara M, Pontikaki I, multicentre, prospective, randomised, open- Insalaco A, De Benedetti F, Civino A, label trial Presta G, Breda L, Marzetti V, Pastore S, Magni-Manzoni S, Maggio MC, Garofalo F, Rigante D, Gattorno M, Malattia C, Picco P, Viola S, Lanni S, Ruperto N, Martini A; Italian Pediatric Rheumatology Study Group Behcet disease Cantarini L, Talarico R, Generali E, Emmi Safety profile of biologic agents for Behçet's Int J Rheum Dis; 2017 1.91 G, Lopalco G, Costa L, Silvestri E, Caso F, disease in a multicenter observational cohort 20:103-108 Franceschini R, Cimaz R, Iannone F, study Galeazzi M, Selmi C Macrophage Bracaglia C, de Graaf K, Pires Marafon Elevated circulating levels of interferon-γ and Ann Rheum Dis; 2017 12.38 activation D, Guilhot F, Ferlin W, Prencipe G, interferon-γ-induced chemokines characterise 76:166-172 syndrome Caiello I, Davì S, Schulert G, Ravelli A, patients with macrophage activation Grom AA, de Min C, De Benedetti F syndrome complicating systemic juvenile idiopathic arthritis Kawasaki disease Taddio A, Rossi ED, Monasta L, Pastore Describing Kawasaki shock syndrome: results Clin Rheumatol; 2017 2.04 S, Tommasini A, Lepore L, Bronzetti G, from a retrospective study and literature 36:223-228 Marrani E, Mottolese BD, Simonini G, review Cimaz R, Ventura A

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Juvenile Verazza S, Davì S, Consolaro A, Bovis F, Disease status, reasons for discontinuation Pediatr Rheumatol 2016 2.14 idiopathic arthritis Insalaco A, Magni-Manzoni S, Nicolai R, and adverse events in 1038 Italian children Online J; 14:68 Marafon DP, De Benedetti F, Gerloni V, with juvenile idiopathic arthritis treated with Pontikaki I, Rovelli F, Cimaz R, Marino A, etanercept Zulian F, Martini G, Pastore S, Sandrin C, Corona F, Torcoletti M, Conti G, Fede C, Barone P, Cattalini M, Cortis E, Breda L, Olivieri AN, Civino A, Podda R, Rigante D, La Torre F, D'Angelo G, Jorini M, Gallizzi R, Maggio MC, Consolini R, De Fanti A, Muratore V, Alpigiani MG, Ruperto N, Martini A, Ravelli A; Italian Pediatric Rheumatology Study Group Juvenile Maggi L, Cosmi L, Simonini G, T cell subpopulations in juvenile idiopathic Autoimmun Rev; 2016 8.49 idiopathic arthritis Annunziato F, Cimaz R arthritis and their modifications after 15:1141-1144 biotherapies Recurrent Brucato A, Imazio M, Gattorno M, Effect of Anakinra on Recurrent Pericarditis JAMA;316:1906-1912 2016 37.7 pericarditis Lazaros G, Maestroni S, Carraro M, Among Patients With Colchicine Resistance Finetti M, Cumetti D, Carobbio A, and Corticosteroid Dependence: The AIRTRIP Ruperto N, Marcolongo R, Lorini M, Randomized Clinical Trial Rimini A, Valenti A, Erre GL, Sormani MP, Belli R, Gaita F, Martini A Uveitis Birolo C, Zannin ME, Arsenyeva S, Cimaz Comparable Efficacy of Abatacept Used as J Rheumatol;43:2068- 2016 3.24 R, Miserocchi E, Dubko M, Deslandre CJ, First-line or Second-line Biological Agent for 2073 Falcini F, Alessio M, La Torre F, Denisova Severe Juvenile Idiopathic Arthritis-related E, Martini G, Nikishina I, Zulian F Uveitis Kawasaki disease Maggio MC, Corsello G, Prinzi E, Cimaz Kawasaki disease in Sicily: clinical description Ital J Pediatr;42:92 2016 1.61 R and markers of disease severity

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Arthritis Vitale A, Insalaco A, Sfriso P, Lopalco G, A Snapshot on the On-Label and Off-Label Use Front Pharmacol;7:380 2016 4.41 Emmi G, Cattalini M, Manna R, Cimaz R, of the Interleukin-1 Inhibitors in Italy among Priori R, Talarico R, Gentileschi S, de Rheumatologists and Pediatric Marchi G, Frassi M, Gallizzi R, Soriano A, Rheumatologists: A Nationwide Multi-Center Alessio M, Cammelli D, Maggio MC, Retrospective Observational Study Marcolongo R, La Torre F, Fabiani C, Colafrancesco S, Ricci F, Galozzi P, Viapiana O, Verrecchia E, Pardeo M, Cerrito L, Cavallaro E, Olivieri AN, Paolazzi G, Vitiello G, Maier A, Silvestri E, Stagnaro C, Valesini G, Mosca M, de Vita S, Tincani A, Lapadula G, Frediani B, De Benedetti F, Iannone F, Punzi L, Salvarani C, Galeazzi M, Rigante D, Cantarini L Arthritis Margheri F, Ceruso M, Carta F, Overexpression of the transmembrane J Enzyme Inhib Med 2016 3.42 Laurenzana A, Maggi L, Lazzeri S, carbonic anhydrase isoforms IX and XII in the Chem;31:60-63. Simonini G, Annunziato F, Del Rosso M, inflamed synovium Supuran CT, Cimaz R Autoinflammatory Cattalini M, Galli J, Andreoli L, Olivieri I, Exploring Autoimmunity in a Cohort of J Clin Immunol;36:693- 2016 3.09 diseases Ariaudo G, Fredi M; IAGSA study group, Children with Genetically Confirmed Aicardi- 9 Orcesi S, Tincani A, Fazzi E. Goutières Syndrome Juvenile Maggi L, Cimaz R, Capone M, Santarlasci Immunosuppressive Activity of Abatacept on Int Arch Allergy 2016 2.67 idiopathic arthritis V, Rossi MC, Mazzoni A, Montaini G, Circulating T Helper Lymphocytes from Immunol;171:45-53 Pagnini I, Giani T, Simonini G, Scaletti C, Juvenile Idiopathic Arthritis Patients Liotta F, Maggi E, Annunziato F, Cosmi L Juvenile Di Paola M, Cavalieri D, Albanese D, Alteration of Fecal Microbiota Profiles in Front Microbiol;7:1703 2016 4.16 idiopathic arthritis Sordo M, Pindo M, Donati C, Pagnini I, Juvenile Idiopathic Arthritis. Associations with Giani T, Simonini G, Paladini A, Lionetti HLA-B27 Allele and Disease Status P, De Filippo C, Cimaz R Juvenile Lanni S, De Lucia O, Possemato N, Musculoskeletal ultrasound in paediatric Clin Exp 2016 2.72 idiopathic arthritis Malattia C, Ravagnani V, Magni- rheumatology: the Italian perspective Rheumatol;34:957-958 Manzoni S Uveitis Brambilla A, Caputo R, Cimaz R, Canakinumab for Childhood Sight-threatening J Rheumatol;43:1445-7 2016 3.24 Simonini G Refractory Uveitis: A Case Series 390

Autoinflammatory Pastore S, Ferrara G, Monasta L, Meini Chronic nonbacterial osteomyelitis may be Acta 2016 1.64 diseases A, Cattalini M, Martino S, Alessio M, La associated with renal disease and Paediatr;105:e328-33 Torre F, Teruzzi B, Gerloni V, Breda L, bisphosphonates are a good option for the Taddio A, Lepore L majority of patients Juvenile Constantin T, Foeldvari I, Vojinovic J, Two-year Efficacy and Safety of Etanercept in J Rheumatol;43:816-24 2016 3.24 idiopathic arthritis Horneff G, Burgos-Vargas R, Nikishina I, Pediatric Patients with Extended Akikusa JD, Avcin T, Chaitow J, Koskova Oligoarthritis, Enthesitis-related Arthritis, or E, Lauwerys BR, Calvo Penades I, Flato Psoriatic Arthritis B, Gamir ML, Huppertz HI, Jaller Raad JJ, Jarosova K, Anton J, Macku M, Otero Escalante WJ, Rutkowska-Sak L, Trauzeddel R, Velez-Sanchez PJ, Wouters C, Wajdula J, Zang C, Bukowski J, Woodworth D, Vlahos B, Martini A, Ruperto N; Paediatric Rheumatology International Trials Organisation (PRINTO). Macrophage Ravelli A, Minoia F, Davì S, Horne A, 2016 Classification Criteria for Macrophage Ann Rheum Dis;75:481- 2016 12.38 activation Bovis F, Pistorio A, Aricò M, Avcin T, Activation Syndrome Complicating Systemic 9 syndrome Behrens EM, De Benedetti F, Filipovic L, Juvenile Idiopathic Arthritis: A European Grom AA, Henter JI, Ilowite NT, Jordan League Against Rheumatism/American MB, Khubchandani R, Kitoh T, Lehmberg College of Rheumatology/Paediatric K, Lovell DJ, Miettunen P, Nichols KE, Rheumatology International Trials Ozen S, Pachlopnik Schmid J, Ramanan Organisation Collaborative Initiative AV, Russo R, Schneider R, Sterba G, Uziel Y, Wallace C, Wouters C, Wulffraat N, Demirkaya E, Brunner HI, Martini A, Ruperto N, Cron RQ Juvenile Nicolai R, Cortis E, Ravà L, Bracaglia C, Herpes Virus Infections During Treatment J Pediatric Infect Dis 2016 0.83 idiopathic arthritis Pardeo M, Insalaco A, Buonuomo PS, With Etanercept in Juvenile Idiopathic Soc;5:76-9 Tozzi AE, De Benedetti F. Arthritis

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Macrophage Ravelli A, Minoia F, Davì S, Horne A, Expert consensus on dynamics of laboratory RMD Open;2:e000161 2016 activation Bovis F, Pistorio A, Aricò M, Avcin T, tests for diagnosis of macrophage activation syndrome Behrens EM, De Benedetti F, Filipovic A, syndrome complicating systemic juvenile Grom AA, Henter JI, Ilowite NT, Jordan idiopathic arthritis MB, Khubchandani R, Kitoh T, Lehmberg K, Lovell DJ, Miettunen P, Nichols KE, Ozen S, Pachlopnik Schmid J, Ramanan AV, Russo R, Schneider R, Sterba G, Uziel Y, Wallace C, Wouters C, Wulffraat N, Demirkaya E, Brunner HI, Martini A, Ruperto N, Cron RQ Juvenile Lanni S, Bovis F, Ravelli A, Viola S, Delineating the Application of Ultrasound in Arthritis Care 2016 3.23 idiopathic arthritis Magnaguagno F, Pistorio A, Michele Detecting Synovial Abnormalities of the Res;68:1346-53 Magnano G, Martini A, Malattia C Subtalar Joint in Juvenile Idiopathic Arthritis Juvenile Demirkaya E, Lanni S, Bovis F, Galasso R, A Meta-Analysis to Estimate the Placebo Arthritis 2016 8.95 idiopathic arthritis Ravelli A, Palmisani E, Consolaro A, Effect in Randomized Controlled Trials in Rheumatol;68:1540-50 Pederzoli S, Marafon D, Simianer S, Juvenile Idiopathic Arthritis Martini A, Ruperto N, Pistorio A; Paediatric Rheumatology International Trials Organisation Uveitis Miserocchi E, Modorati G, Berchicci L, Long-term treatment with rituximab in severe Br J 2016 3.03 Pontikaki I, Meroni P, Gerloni V juvenile idiopathic arthritis-associated uveitis Ophthalmol;100:782-6 Juvenile Maggi L, Margheri F, Luciani C, Capone Th1-Induced CD106 Expression Mediates PLoS One;11:e0154422 2016 3.23 idiopathic arthritis M, Rossi MC, Chillà A, Santarlasci V, Leukocytes Adhesion on Synovial Fibroblasts Mazzoni A, Cimaz R, Liotta F, Maggi E, from Juvenile Idiopathic Arthritis Patients Cosmi L, Del Rosso M, Annunziato F Kawasaki disease Mauro A, Fabi M, Da Frè M, Guastaroba Kawasaki disease: an epidemiological study in Pediatr Rheumatol 2016 2.14 P, Corinaldesi E, Calabri GB, Giani T, central Italy Online J;14:22 Simonini G, Rusconi F, Cimaz R

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Juvenile Ruperto N, Pistorio A, Oliveira S, Zulian Prednisone versus prednisone plus ciclosporin Lancet;387:671-8 2016 44.0 dermatomyositis F, Cuttica R, Ravelli A, Fischbach M, versus prednisone plus methotrexate in new- Magnusson B, Sterba G, Avcin T, onset juvenile dermatomyositis: a Brochard K, Corona F, Dressler F, randomised trial Gerloni V, Apaz MT, Bracaglia C, Cespedes-Cruz A, Cimaz R, Couillault G, Joos R, Quartier P, Russo R, Tardieu M, Wulffraat N, Bica B, Dolezalova P, Ferriani V, Flato B, Bernard-Medina AG, Herlin T, Trachana M, Meini A, Allain- Launay E, Pilkington C, Vargova V, Wouters C, Angioloni S, Martini A; Paediatric Rheumatology International Trials Organisation (PRINTO). Arthritis Cattalini M, Parissenti I, Tononcelli E, Developing a Predictive Score for Chronic J Pediatr;169:188-93 2016 3.89 Lancini F, Cantarini L, Meini A Arthritis among a Cohort of Children with Musculoskeletal Complaints--The Chronic Arthritis Score Study Macrophage Ravelli A, Minoia F, Davì S, Horne A, 2016 Classification Criteria for Macrophage Arthritis 2016 8.95 activation Bovis F, Pistorio A, Aricò M, Avcin T, Activation Syndrome Complicating Systemic Rheumatol;68:566-76 syndrome Behrens EM, De Benedetti F, Filipovic L, Juvenile Idiopathic Arthritis: A European Grom AA, Henter JI, Ilowite NT, Jordan League Against Rheumatism/American MB, Khubchandani R, Kitoh T, Lehmberg College of Rheumatology/Paediatric K, Lovell DJ, Miettunen P, Nichols KE, Rheumatology International Trials Ozen S, Pachlopnik Schmid J, Ramanan Organisation Collaborative Initiative AV, Russo R, Schneider R, Sterba G, Uziel Y, Wallace C, Wouters C, Wulffraat N, Demirkaya E, Brunner HI, Martini A, Ruperto N, Cron RQ Juvenile Colebatch-Bourn AN, Edwards CJ, EULAR-PReS points to consider for the use of Ann Rheum 2015 12.38 idiopathic arthritis Collado P, D'Agostino MA, Hemke R, imaging in the diagnosis and management of Dis;74:1946-57 Jousse-Joulin S, Maas M, Martini A, juvenile idiopathic arthritis in clinical practice Naredo E, Østergaard M, Rooney M, Tzaribachev N, van Rossum MA, Vojinovic J, Conaghan PG, Malattia C 393

Macrophage Cifaldi L, Prencipe G, Caiello I, Bracaglia Inhibition of natural killer cell cytotoxicity by Arthritis 2015 8.95 activation C, Locatelli F, De Benedetti F, Strippoli R interleukin-6: implications for the Rheumatol;67:3037-46 syndrome pathogenesis of macrophage activation syndrome Juvenile Piancino MG, Cannavale R, Dalmasso P, Condylar asymmetry in patients with juvenile Semin Arthritis 2015 3.94 idiopathic arthritis Tonni I, Filipello F, Perillo L, Cattalini M, idiopathic arthritis: Could it be a sign of a Rheum;45:208-13 Meini A possible temporomandibular joints involvement? Uveitis Marrani E, Cimaz R, Lucherini OM, The common NOD2/CARD15 variant P268S in Pediatr Rheumatol 2015 2.14 Caputo R, Vitale A, Cantarini L, Simonini patients with non-infectious uveitis: a cohort Online J;13:38 G study Autoinflammatory Cattalini M, Soliani M, Rigante D, Basic Characteristics of Adults with Periodic Mediators 2015 3.41 diseases Lopalco G, Iannone F, Galeazzi M, Fever, Aphthous Stomatitis, Pharyngitis, and Inflamm;2015:570418 Cantarini L Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of Disease Uveitis Marrani E, Paganelli V, de Libero C, Long-term efficacy of abatacept in pediatric Graefes Arch Clin Exp 2015 1.99 Cimaz R, Simonini G patients with idiopathic uveitis: a case series. Ophthalmol;253:1813-6 Juvenile Real-Fernández F, Cimaz R, Rossi G, Surface plasmon resonance-based Anal Bioanal 2015 3.12 idiopathic arthritis Simonini G, Giani T, Pagnini I, Papini methodology for anti-adalimumab antibody Chem;407:7477-85 AM, Rovero P identification and kinetic characterization Juvenile Pardeo M, Pires Marafon D, Insalaco A, Anakinra in Systemic Juvenile Idiopathic J Rheumatol;42:1523-7 2015 3.24 idiopathic arthritis Bracaglia C, Nicolai R, Messia V, De Arthritis: A Single-center Experience Benedetti F

394

Behcet disease Cantarini L, Vitale A, Scalini P, Dinarello Anakinra treatment in drug-resistant Behcet's Clin 2015 2.04 CA, Rigante D, Franceschini R, Simonini disease: a case series Rheumatol;34:1293- G, Borsari G, Caso F, Lucherini OM, 301 Frediani B, Bertoldi I, Punzi L, Galeazzi M, Cimaz R. Cantarini L, Vitale A, Scalini P, Dinarello CA, Rigante D, Franceschini R, Simonini G, Borsari G, Caso F, Lucherini OM, Frediani B, Bertoldi I, Punzi L, Galeazzi M, Cimaz R Macrophage Minoia F, Davì S, Horne A, Bovis F, Dissecting the heterogeneity of macrophage J Rheumatol;42:994- 2015 3.24 activation Demirkaya E, Akikusa J, Ayaz NA, Al- activation syndrome complicating systemic 1001 syndrome Mayouf SM, Barone P, Bica B, Bolt I, juvenile idiopathic arthritis Breda L, De Cunto C, Enciso S, Gallizzi R, Griffin T, Hennon T, Horneff G, Jeng M, Kapovic AM, Lipton JM, Magni Manzoni S, Rumba-Rozenfelde I, Magalhaes CS, Sewairi WM, Stine KC, Vougiouka O, Weaver LK, Davidsone Z, De Inocencio J, Ioseliani M, Lattanzi B, Tezer H, Buoncompagni A, Picco P, Ruperto N, Martini A, Cron RQ, Ravelli A Autoinflammatory Carta S, Penco F, Lavieri R, Martini A, Cell stress increases ATP release in NLRP3 Proc Natl Acad Sci U S 2015 9.67 diseases Dinarello CA, Gattorno M, Rubartelli A inflammasome-mediated autoinflammatory A;112:2835-40 diseases, resulting in cytokine imbalance Autoinflammatory De Pieri C, Taddio A, Insalaco A, Barbi E, Different presentations of mevalonate kinase Clin Exp 2015 2.72 diseases Lepore L, Ventura A, Tommasini A deficiency: a case series Rheumatol;33:437-42 Arthritis Sperotto F, Brachi S, Vittadello F, Zulian Musculoskeletal pain in schoolchildren across Pediatr Rheumatol 2015 2.14 F. puberty: a 3-year follow-up study Online J;13:16 Juvenile Pastore S, Stocco G, Moressa V, 5-Aminoimidazole-4-carboxamide Rheumatol Int;35:619- 2015 1.70 idiopathic arthritis Zandonà L, Favretto D, Malusà N, ribonucleotide-transformylase and inosine- 27 Decorti G, Lepore L, Ventura A triphosphate-pyrophosphatase genes variants predict remission rate during methotrexate therapy in patients with juvenile idiopathic arthritis

395

Juvenile Martini G, Biscaro F, Boscaro E, Reduced levels of circulating progenitor cells BMC Musculoskelet 2015 1.68 idiopathic arthritis Calabrese F, Lunardi F, Facco M, in juvenile idiopathic arthritis are Disord;16:103 Agostini C, Zulian F, Fadini GP counteracted by anti TNF-α therapy Juvenile De Benedetti F, Brunner H, Ruperto N, Catch-up growth during tocilizumab therapy Arthritis 2015 8.95 idiopathic arthritis Schneider R, Xavier R, Allen R, Brown for systemic juvenile idiopathic arthritis: Rheumatol;67:840-8 DE, Chaitow J, Pardeo M, Espada G, results from a phase III trial. Gerloni V, Myones BL, Frane JW, Wang J, Lipman TH, Bharucha KN, Martini A, Lovell D; Paediatric Rheumatology International Trials Organisation and the Pediatric Rheumatology Collaborative Study Group Juvenile Pastore S, Stocco G, Favretto D, De Genetic determinants for methotrexate Front Pharmacol;6:52 2015 4.41 idiopathic arthritis Iudicibus S, Taddio A, d'Adamo P, response in juvenile idiopathic arthritis Malusà N, Addobbati R, Decorti G, Lepore L, Ventura A Autoinflammatory De Pieri C, Vuch J, De Martino E, Bianco Genetic profiling of autoinflammatory Pediatr Rheumatol 2015 2.14 diseases AM, Ronfani L, Athanasakis E, Bortot B, disorders in patients with periodic fever: a Online J;13:11 Crovella S, Taddio A, Severini GM, prospective study. Tommasini A Connective tissue Falcini F, Rigante D, Candelli M, Martini Anti-nuclear antibodies as predictor of outcome in Clin Rheumatol;34:167- 2015 2.04 disease G, Corona F, Petaccia A, La Torre F, a multi-center cohort of Italian children and 9 Raffaele CG, Matucci Cerinic M adolescents with Raynaud's phenomenon Autoinflammatory De Pieri C, Vuch J, Athanasakis E, F402L variant in NLRP12 in subjects with Clin Exp 2014 2.72 diseases Severini GM, Crovella S, Bianco AM, undiagnosed periodic fevers and in healthy Rheumatol;32:993-4 Tommasini A. controls

396

Macrophage Minoia F, Davì S, Horne A, Demirkaya E, Clinical features, treatment, and outcome of Arthritis 2014 8.95 activation Bovis F, Li C, Lehmberg K, Weitzman S, macrophage activation syndrome Rheumatol;66:3160-9 syndrome Insalaco A, Wouters C, Shenoi S, Espada complicating systemic juvenile idiopathic G, Ozen S, Anton J, Khubchandani R, arthritis: a multinational, multicenter study of Russo R, Pal P, Kasapcopur O, 362 patients Miettunen P, Maritsi D, Merino R, Shakoory B, Alessio M, Chasnyk V, Sanner H, Gao YJ, Huasong Z, Kitoh T, Avcin T, Fischbach M, Frosch M, Grom A, Huber A, Jelusic M, Sawhney S, Uziel Y, Ruperto N, Martini A, Cron RQ, Ravelli A Macrophage Davì S, Minoia F, Pistorio A, Horne A, Performance of current guidelines for Arthritis 2014 8.95 activation Consolaro A, Rosina S, Bovis F, Cimaz R, diagnosis of macrophage activation syndrome Rheumatol;66:2871-80 syndrome Gamir ML, Ilowite NT, Kone-Paut I, complicating systemic juvenile idiopathic Feitosa de Oliveira SK, McCurdy D, Silva arthritis. CA, Sztajnbok F, Tsitsami E, Unsal E, Weiss JE, Wulffraat N, Abinun M, Aggarwal A, Apaz MT, Astigarraga I, Corona F, Cuttica R, D'Angelo G, Eisenstein EM, Hashad S, Lepore L, Mulaosmanovic V, Nielsen S, Prahalad S, Rigante D, Stanevicha V, Sterba G, Susic G, Takei S, Trauzeddel R, Zletni M, Ruperto N, Martini A, Cron RQ, Ravelli A Juvenile Consolaro A, Negro G, Chiara Gallo M, Defining criteria for disease activity states in Arthritis Care 2014 3.23 idiopathic arthritis Bracciolini G, Ferrari C, Schiappapietra nonsystemic juvenile idiopathic arthritis Res;66:1703-9 B, Pistorio A, Bovis F, Ruperto N, Martini based on a three-variable juvenile arthritis A, Ravelli A disease activity score Juvenile Caiello I, Minnone G, Holzinger D, Vogl IL-6 amplifies TLR mediated cytokine and PLoS One;9:e107886 2014 3.23 idiopathic arthritis T, Prencipe G, Manzo A, De Benedetti F, chemokine production: implications for the Strippoli R pathogenesis of rheumatic inflammatory diseases

397

Autoinflammatory Pastore S, Paloni G, Caorsi R, Ronfani L, Serum amyloid protein A concentration in Clin Exp 2014 2.72 diseases Taddio A, Lepore L; CAPS Italian cryopyrin-associated periodic syndromes Rheumatol;32:S63-6 Register patients treated with interleukin-1 beta antagonist Autoinflammatory Vigo G, Martini G, Zoppi S, Vittadello F, Tonsillectomy efficacy in children with PFAPA Clin Exp 2014 2.72 diseases Zulian F. syndrome is comparable to the standard Rheumatol;32:S156-9 medical treatment: a long-term observational study Juvenile Calandra S, Gallo MC, Consolaro A, Female sex and oligoarthritis category are not J Rheumatol;41:1416- 2014 3.24 idiopathic arthritis Pistorio A, Lattanzi B, Bovis F, Muratore risk factors for uveitis in Italian children with 25 V, De Marco R, Martini A, Ravelli A juvenile idiopathic arthritis. Juvenile Sperotto F, Cuffaro G, Brachi S, Seguso Prevalence of antinuclear antibodies in J Rheumatol;41:1405-8. 2014 3.24 idiopathic arthritis M, Zulian F schoolchildren during puberty and possible relationship with musculoskeletal pain: a longitudinal study Juvenile Consolaro A, Ruperto N, Bracciolini G, Defining criteria for high disease activity in Ann Rheum 2014 12.3 idiopathic arthritis Frisina A, Gallo MC, Pistorio A, Verazza juvenile idiopathic arthritis based on the Dis;73:1380-3 8 S, Negro G, Gerloni V, Goldenstein- juvenile arthritis disease activity score Schainberg C, Sztajnbok F, Wulffraat NM, Martini A, Ravelli A; Paediatric Rheumatology International Trials Organization (PRINTO) Autoinflammatory Scianaro R, Insalaco A, Bracci Laudiero L, Deregulation of the IL-1β axis in chronic Pediatr Rheumatol 2014 2.14 diseases De Vito R, Pezzullo M, Teti A, De recurrent multifocal osteomyelitis Online J;12:30 Benedetti F, Prencipe G Juvenile Malattia C, Damasio MB, Madeo A, Whole-body MRI in the assessment of disease Ann Rheum 2014 12.3 dermatomyositis Pistorio A, Providenti A, Pederzoli S, activity in juvenile dermatomyositis. Dis;73:1083-90 8 Viola S, Buoncompagni A, Mattiuz C, Beltramo A, Consolaro A, Ravelli A, Ruperto N, Picco P, Magnano GM, Martini A

398

Juvenile Brunner HI, Ruperto N, Zuber Z, Keane Efficacy and safety of tocilizumab in patients Ann Rheum 2014 12.3 idiopathic arthritis C, Harari O, Kenwright A, Lu P, Cuttica R, with polyarticular-course juvenile idiopathic Dis;74:1110-7 8 Keltsev V, Xavier RM, Calvo I, Nikishina I, arthritis: results from a phase 3, randomised, Rubio-Pérez N, Alexeeva E, Chasnyk V, double-blind withdrawal trial Horneff G, Opoka-Winiarska V, Quartier P, Silva CA, Silverman E, Spindler A, Baildam E, Gámir ML, Martin A, Rietschel C, Siri D, Smolewska E, Lovell D, Martini A, De Benedetti F; Paediatric Rheumatology International Trials Organisation PRINTO; Pediatric Rheumatology Collaborative Study Group (PRCSG) Polyarteritis Falcini F, La Torre F, Vittadello F, Rigante Clinical overview and outcome in a cohort of Clin Exp 2014 2.72 nodosa D, Martini G, Corona F, Buoncompagni children with polyarteritis nodosa Rheumatol;32:S134-7 A, Alessio M, Cortis E, Insalaco A, Magni-Manzoni S, Breda L, Matucci- Cerinic M, Zulian F Granulomatosis Bohm M, Gonzalez Fernandez MI, Ozen Clinical features of childhood granulomatosis Pediatr Rheumatol 2014 2.14 with polyangiitis S, Pistorio A, Dolezalova P, Brogan P, with polyangiitis (wegener's granulomatosis) Online J;12:18 Barbano G, Sengler C, Klein-Gitelman M, Quartier P, Fasth A, Herlin T, Terreri MT, Nielsen S, van Rossum MA, Avcin T, Castell ER, Foeldvari I, Foell D, Kondi A, Koné-Paut I, Kuester RM, Michels H, Wulffraat N, Amer HB, Malattia C, Martini A, Ruperto N Juvenile Magni-Manzoni S, Collado P, Jousse- Current state of musculoskeletal ultrasound in Rheumatology;53:491-6 2014 4.52 idiopathic arthritis Joulin S, Naredo E, D'Agostino MA, paediatric rheumatology: results of an Muratore V, Merli P, Roth J; Paediatric international survey Ultrasound Group of the OMERACT Ultrasound Task Force.

399

Juvenile Romano M, Pontikaki I, Gattinara M, Drug survival and reasons for discontinuation Reumatismo;65:278-85 2014 4.52 idiopathic arthritis Ardoino I, Donati C, Boracchi P, Meroni of the first course of biological therapy in 301 PL, Gerloni V juvenile idiopathic arthritis patients Camptodactyly- Ciullini Mannurita S, Vignoli M, Bianchi L, CACP syndrome: identification of five novel Eur J Hum 2014 4.58 arthropathy-coxa Kondi A, Gerloni V, Breda L, Ten Cate R, mutations and of the first case of UPD in the Genet;22:197-201 vara-pericarditis Alessio M, Ravelli A, Falcini F, Gambineri largest European cohort E Juvenile Del Fattore A, Cappariello A, Capulli M, An experimental therapy to improve skeletal Osteoporos Int;25:681- 2014 3.44 idiopathic arthritis Rucci N, Muraca M, De Benedetti F, Teti growth and prevent bone loss in a mouse 92 A model overexpressing IL-6 Juvenile Giancane G, Pederzoli S, Norambuena X, Frequency of radiographic damage and Arthritis Care 2014 3.23 idiopathic arthritis Ioseliani M, Sato J, Gallo MC, Negro G, progression in individual joints in children Res;66:27-33 Pistorio A, Ruperto N, Martini A, Ravelli with juvenile idiopathic arthritis A Juvenile Rodriguez-Lozano AL, Giancane G, Agreement among musculoskeletal pediatric Arthritis Care 2014 3.23 idiopathic arthritis Pignataro R, Viola S, Valle M, Gregorio S, specialists in the assessment of radiographic Res;66:34-9 Norambuena X, Ioseliani M, Pistorio A, joint damage in juvenile idiopathic arthritis Magnaguagno F, Riganti S, Martini A, Ravelli A Autoinflammatory Gattorno M, Obici L, Cattalini M, Tormey Canakinumab treatment for patients with Ann Rheum Dis. 2017 12,3 Gaslini syndromes V, Abrams K, Davis N, Speziale A, active recurrent or chronic TNF receptor- 76(1):173-178 2 Genova Bhansali SG, Martini A, Lachmann HJ. associated periodic syndrome (TRAPS): an open-label, phase II study

Autoinflammatory Torene R, Nirmala N, Obici L, Cattalini M, Canakinumab reverses overexpression of Ann Rheum Dis. 2017 12,3 Gaslini syndromes Tormey V, Caorsi R, Starck-Schwertz S, inflammatory response genes in tumour 76(1):303-309 2 Genova Letzkus M, Hartmann N, Abrams K, necrosis factor receptor-associated periodic Lachmann H, Gattorno M syndrome.

Autoinflammatory Finetti M, Omenetti A, Federici S, Caorsi Chronic Infantile Neurological Cutaneous and Orphanet J Rare Dis. 2016 Gaslini syndromes R, Gattorno M Articular (CINCA) syndrome: a review 7;11(1):167 Genova

400

Autoinflammatory Ter Haar NM, Jeyaratnam J, The Phenotype and Genotype of Arthritis Rheumatol. 2016 6 Gaslini syndromes Lachmann HJ, Simon A, Brogan PA, Mevalonate Kinase Deficiency: A Series of 68(11):2795-2805 Genova Doglio M, Cattalini M, Anton J, 114 Cases From the Eurofever Registry Modesto C, Quartier P, Hoppenreijs E, Martino S, Insalaco A, Cantarini L, Lepore L, Alessio M, Calvo Penades I, Boros C, Consolini R, Rigante D, Russo R, Pachlopnik Schmid J, Lane T, Martini A, Ruperto N, Frenkel J, and Gattorno M; Paediatric Rheumatology International Trials Organisation and Eurofever Project.

Autoinflammatory Marsili M, Di Battista C, Chiarelli F, Neonatal-Onset Urticaria and Fever J Pediatr.177:329-329 2016 3,89 Gaslini syndromes Breda L, Ceccherini I, Gattorno M Genova

Autoinflammatory Omenetti A, Carta S, Caorsi R, Finetti Disease activity accounts for long-term Rheumatology 2016 4,52 Gaslini syndromes M, Marotto D, Lattanzi B, Jorini M, efficacy of IL-1 blockers in pyogenic sterile (Oxford). 55(7):1325-35 Genova Delfino L, Penco F, Picco P, arthritis pyoderma gangrenosum and Buoncompagni A, Martini A, severe acne syndrome Rubartelli A, Gattorno M

Autoinflammatory Caorsi R, Penco F, Schena F, Monogenic polyarteritis: the lesson of ADA2 Pediatr Rheumatol 2016 2,14 Gaslini syndromes Gattorno M deficiency Online J. 14(1):51 Genova

Autoinflammatory Volpi S, Picco P, Caorsi R, Candotti F, Type I interferonopathies in pediatric Pediatr Rheumatol 2016 2,14 Gaslini syndromes Gattorno M rheumatology Online J. 14(1):35 Genova

401

Autoinflammatory Imazio M, Brucato A, Pluymaekers Recurrent pericarditis in children and J Cardiovasc Med 2016 Gaslini syndromes N, Breda L, Calabri G, Cantarini L, adolescents: a multicentre cohort study. (Hagerstown). 17(9):707- Genova Cimaz R, Colimodio F, Corona F, 12 Cumetti D, Cuccio CD, Gattorno M, Insalaco A, Limongelli G, Russo MG, Valenti A, Finkelstein Y, Martini A

Autoinflammatory Papa R, Nozza P, Granata C, Caorsi Juvenile eosinophilic fasciitis: three case Clin Exp Rheumatol. 2016 2,49 Gaslini syndromes R, Gattorno M, Martini A, Picco P. reports with review of the literature. 34(3):527-30 Genova

Autoinflammatory Naselli A, Penco F, Cantarini L, Clinical Characteristics of Patients Carrying J Rheumatol. 43(6):1093- 2016 3,23 Gaslini syndromes Insalaco A, Alessio M, Tommasini A, the Q703K Variant of the NLRP3 Gene: A 100 Genova Maggio C, Obici L, Gallizi R, Cimmino 10-year Multicentric National Study M, Signa S, Lucherini OM, Carta S, Caroli F, Martini A, Rubartelli A, Ceccherini I, Gattorno M

Autoinflammatory Demirkaya E, Saglam C, Turker T, Performance of Different Diagnostic J Rheumatol. 43(1):154-60 2016 3,23 Gaslini syndromes Koné-Paut I, Woo P, Doglio M, Criteria for Familial Mediterranean Fever Genova Amaryan G, Frenkel J, Uziel Y, in Children with Periodic Fevers: Results Insalaco A, Cantarini L, Hofer M, from a Multicenter International Registry. Boiu S, Duzova A, Modesto C, Bryant A, Rigante D, Papadopoulou-Alataki E, Guillaume-Czitrom S, Kuemmerle- Deschner J, Neven B, Lachmann H, Martini A, Ruperto N, Gattorno M*, Ozen S*; Paediatric Rheumatology International Trials Organisations (PRINTO).; Eurofever Project. (*last co-authors)

402

Autoinflammatory Rusmini M, Federici S, Caroli F, Next-generation sequencing and its initial Ann Rheum Dis. pii: 2015 12,32 Gaslini syndromes Grossi A, Baldi M, Obici L, Insalaco A, applications for molecular diagnosis of annrheumdis-2015- Genova Tommasini A, Caorsi R, Gallo E, systemic auto-inflammatory diseases. 207701 Olivieri AN, Marzano A, Coviello D, Ravazzolo R, Martini A, Gattorno* M, Ceccherini I*. (*last co-authors)

Autoinflammatory Holzinger D, Kessel C, Omenetti A, From bench to bedside and back again: Nat Rev Rheumatol. doi: 2015 10,53 Gaslini syndromes Gattorno M. translational research in 10.1038/nrrheum.2015.79 Genova autoinflammation.

Autoinflammatory Ter Haar NM, Oswald M, Jeyaratnam Recommendations for the management Ann Rheum Dis. 2015 12,32 Gaslini syndromes J, Anton J, Barron KS, Brogan PA, of autoinflammatory diseases. 274(9):1636-44. (IF 12.32) Genova Cantarini L, Galeotti C, Grateau G, Hentgen V, Hofer M, Kallinich T, Kone-Paut I, Lachmann HJ, Ozdogan H, Ozen S, Russo R, Simon A, Uziel Y, Wouters C, Feldman BM, Vastert SJ, Wulffraat NM, Benseler SM, Frenkel J, Gattorno M*, Kuemmerle- Deschner JB*.

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Autoinflammatory Federici S, Sormani MP, Ozen S, Evidence-based provisional clinical nn Rheum Dis. 74(5):799- 2015 12,32 Gaslini syndromes Lachmann HJ, Amaryan G, Woo P, classification criteria for 805. (IF 12.32) Genova Koné-Paut I, Dewarrat N, Cantarini L, autoinflammatory periodic fevers Insalaco A, Uziel Y, Rigante D, Quartier P, Demirkaya E, Herlin T, Meini A, Fabio G, Kallinich T, Martino S, Butbul AY, Olivieri A, Kuemmerle-Deschner J, Neven B, Simon A, Ozdogan H, Touitou I, Frenkel J, Hofer M, Martini A, Ruperto N, Gattorno M; for the Paediatric Rheumatology International Trials Organisation (PRINTO) and Eurofever Project.

Autoinflammatory Levy R, Gérard L, Kuemmerle- Phenotypic and genotypic characteristics Ann Rheum Dis. 2015 12,32 Gaslini syndromes Deschner J, Lachmann HJ, Koné-Paut of cryopyrin-associated periodic 74(11):2043-9 Genova I, Cantarini L, Woo P, Naselli A, syndrome: a series of 136 patients from Bader-Meunier B, Insalaco A, Al- the Eurofever Registry Mayouf SM, Ozen S, Hofer M, Frenkel J, Modesto C, Nikishina I, Schwarz T, Martino S, Meini A, Quartier P, Martini A, Ruperto N, Neven B, Gattorno M; for PRINTO and Eurofever

Autoinflammatory Marzano AV, Tavecchio S, Venturini Urticarial vasculitis and urticarial G Ital Dermatol Venereol. 2015 1,01 Gaslini syndromes M, Sala R, Calzavara-Pinton P, autoinflammatory syndromes. 150(1):41-50c Genova Gattorno M.

404

Autoinflammatory Lachmann HJ, Papa R, Gerhold K, The phenotype of TNF receptor- Ann Rheum Dis. 2014 12,32 Gaslini syndromes Obici L, Touitou I, Cantarini L, associated autoinflammatory syndrome 73(12):2160-7 Genova Frenkel J, Anton J, Kone-Paut I, (TRAPS) at presentation: a series of 158 Cattalini M, Bader-Meunier B, cases from the Eurofever/EUROTRAPS Insalaco A, Hentgen V, Merino R, international registry. Modesto C, Toplak N, Berendes R, Ozen S, Cimaz R, Jansson A, Brogan PA, Hawkins PN, Ruperto N, Martini A, Woo P and Gattorno M; for the Paediatric Rheumatology International Trials Organisation (PRINTO), the EUROTRAPS and the Eurofever Project

Autoinflammatory Piram M, Koné-Paut I, Lachmann HJ, Validation of the auto-inflammatory Ann Rheum Dis. 2014 12,32 Gaslini syndromes Frenkel J, Ozen S, Kuemmerle- diseases activity index (AIDAI) for 73(12):2168-73 Genova Deschner J, Stojanov S, Simon A, hereditary recurrent fever syndromes Finetti M, Sormani MP, Martini A, Gattorno M, Ruperto N; EUROFEVER, EUROTRAPS and the Paediatric Rheumatology International Trials Organisation (PRINTO) networks

Autoinflammatory Finetti M, Insalaco A, Cantarini L, Long-term efficacy of interleukin-1 J Pediatr. 164(6):1425- 2014 3,89 Gaslini syndromes Meini A, Breda L, Alessio M, receptor antagonist (anakinra) in 31.e1 Genova D'Alessandro M, Picco P, Martini A, corticosteroid-dependent and colchicine- Gattorno M resistant recurrent pericarditis

Autoinflammatory Federici S, Gattorno M A practical approach to the diagnosis of Best Pract Res Clin 2014 3,26 Gaslini syndromes autoinflammatory diseases in childhood. Rheumatol. 28(2):263-76 Genova

Autoinflammatory Hofer M, Pillet P, Cochard MM, Berg International periodic fever, aphthous Rheumatology (Oxford). 2014 4,52 Gaslini S, Krol P, Kone-Paut I, Rigante D, stomatitis, pharyngitis, cervical adenitis 405 syndromes Hentgen V, Anton J, Brik R, Neven B, syndrome cohort: description of distinct 53(6):1125-9 Genova Touitou I, Kaiser D, Duquesne A, phenotypes in 301 patients Wouters C, Gattorno M

Autoinflammatory Omenetti A, Carta S, Delfino L, Increased NLRP3-dependent interleukin 1β Ann Rheum Dis. 2014 12,32 Gaslini syndromes Martini A, Gattorno M*, Rubartelli secretion in patients with familial ;73(2):462-9. (*last co- Genova A* Mediterranean fever: correlation with MEFV authors) genotype

Autoinflammatory Ozen S, Demirkaya E, Amaryan G, Results from a multicentre international Ann Rheum Dis. 2014 12,32 Gaslini syndromes Koné-Paut I, Polat A, Woo P, Uziel Y, registry of familial Mediterranean fever: 73(4):662-7 Genova Modesto C, Finetti M, Quartier P, impact of environment on the expression Papadopoulou-Alataki E, Al-Mayouf of a monogenic disease in children. SM, Fabio G, Gallizzi R, Cantarini L, Frenkel J, Nielsen S, Hofer M, Insalaco A, Acikel C, Ozdogan H, Martini A, Ruperto N, Gattorno M; Paediatric Rheumatology International Trials Organisation; Eurofever Project

Autoinflammatory Caorsi R, Picco P, Buoncompagni A, Osteolytic lesion in PAPA syndrome J Rheumatol. 41(11):2333- 2014 3,23 Gaslini syndromes Martini A, Gattorno M responding to anti-interleukin 1 treatment 4 Genova

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Trial clinici farmacologici Trial clinici del Gruppo di Studio di Reumatologia Pediatrica dal 2014 ad oggi

È stata effettuata una revisione dei principali trial clinici in cui hanno La maggior dei trial sono sponsorizzati (84%), tuttavia ve ne sono 3 di tipo partecipato o sono stati coordinatori componenti del Gruppo di studio accademico, senza sponsor di case farmaceutiche (AnakInRa for Treatment (Gds) di Reumatologia Pediatrica. for Recurrent Idiopathic Pericarditis, AIRTRIP trial; Mycophenolate mofetil vs cyclophosphamide for polyarteritis nodosa, MYPAN trial; Anakinra for La ricerca è stata ristretta ai trial di intervento farmacologico in atto nel IvIg resistant children with Kawasaki disease, Kawakinra trial). periodo dal 01/01/2014 al 16/06/2017. La maggior parte dei farmaci oggetto di studio sono farmaci biologici, con Sono stati quindi selezionati 19 trial clinici, 12 ancora aperti e 7 già conclusi: l’eccezione del micofenolato mofetile nello studio MYPAN. In particolare la principale area di ricerca è risultata essere l’artrite idiopatica giovanile, sono stati inclusi 5 trial su tocilizumab, 4 su canakinumab, 2 seguita in seconda istanza dalle patologie autoinfiammatorie e dalle rispettivamente su anakinra e sarilumab e 1 trial per abatacept, vasculiti. adalimumab, rituximab, secukinumab e anticorpo monoclonate anti Tutti i trial selezionati sono multicentrici e di questi solo uno INFgamma. esclusivamente italiano.

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Trial clinici farmacologici 1 2 3 4 5 6 7 8 Partners Ruolo Durata Nome MR Sponsor Denominazione del trial Farmaco Note I N C P C T (anno) Artrite idiopatica Roche x x Studio di 12 settimane, randomizzato, Tocilizumab 2015 Gruppo di studio di giovanile a decorso in doppio cieco, controllato placebo, a reumatologia sistemico (sJIA) gruppi paralleli, a 2 bracci di pediatrica trattamento per valutare l’efficacia e la sicurezza di tocilizumab in pazienti con artrite giovanile idiopatica sistemica (sJIA) attiva, con un periodo di estensione di 92 settimane, in aperto, a singolo braccio per esaminare l’utilizzo a lungo termine del tocilizumab. (WA18221) Artrite idiopatica Roche x x Studio di fase IV per valutare la Tocilizumab x Gruppo di studio di giovanile a decorso riduzione della frequenza di reumatologia sistemico (sJIA) somministrazione di Tocilizumab in pediatrica pazienti affetti da Artrite Idiopatica Giovanile Sistemica (sJIA) che manifestano anomalie nei parametri di laboratorio durante il trattamento con Tocilizumab. (WA28029) Granulomatosi con Roche x x Studio di fase IIa, per valutare la Rituximab 2016 Gruppo di studio di poliangite sicurezza e la farmacocinetica di 4 reumatologia (Wegener’s) (GPA) infusioni per via endovenosa di pediatrica e poliangite rituximab in pazienti pediatrici affetti microscopica (MPA) da grave granulomatosi con poliangite (di Wegener) o poliangite microscopica. (WA25165)

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Artrite idiopatica Roche x x Studio di fase Ib, in aperto, Tocilizumab 2015 Gruppo di studio di giovanile a decorso multicentrico, per la valutazione della reumatologia poliarticolare farmacocinetica, della pediatrica (pJIA) farmacodinamica e della sicurezza di tocilizumab somministrato per via sottocutanea in pazienti affetti da artrite idiopatica giovanile a decorso poliarticolare. (WA28117) Pericardite Maria Vittoria x x AnakInRa for Treatment of Recurrent Anakinra 2015 Gruppo di studio di ricorrente Hospital – Idiopathic Pericarditis (AIRTRIP) reumatologia idiopatica Torino Studio di 8 mesi, multicentrico (3 centri pediatrica italiani), randomizzato, in doppio cieco, controllato placebo, per valutare l’efficacia, la tollerabilità e la sicurezza di anakinra in adulti e bambini con pericardite idiopatica ricorrente (RP) (2013-001849-13 EudraCT Number ) Artrite idiopatica Roche x X Studio di fase Ib, in aperto, Tocilizumab x Gruppo di studio di giovanile a decorso multicentrico, per la valutazione della reumatologia sistemico (sJIA) farmacocinetica, della pediatrica farmacodinamica e della sicurezza di Tocilizumab somministrato per via sottocutanea in pazienti affetti da Artrite Idiopatica Giovanile sistemica. (WA28118) Artrite idiopatica Roche x x Studio di estensione a lungo termine Tocilizumab x Gruppo di studio di giovanile a decorso per valutare la sicurezza e l’efficacia di reumatologia sistemico (sJIA)/ tocilizumab sottocute in pazienti con pediatrica Artrite idiopatica artrite idiopatica giovanile a decorso giovanile a decorso poliarticolare (pJIA) e sistemico (sJIA) poliarticolare (pJIA) (WA29231)

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Artrite idiopatica Novartis x x Studio di estensione in aperto Canakinumab 2015 Gruppo di studio di giovanile a decorso canakinumab (ACZ885) in pazienti con reumatologia sistemico (sJIA) artrite idiopatica sistemica giovanile pediatrica (SjIA) con manifestazioni sistemiche attive. (CACZ885G2301E1) TNF receptor Novartis x x Studio in aperto, multicentrico, per Canakinumab 2014 Gruppo di studio di Associated Periodic valutare l'efficacia e la sicurezza di un reumatologia Syndrome (TRAPS) trattamento con Canakinumab per 4 pediatrica mesi con follow‐up di 5 mesi in pazienti con sindrome periodica attiva ricorrente o cronica associata al recettore del TNF (TRAPS) ‐ (CACZ885D2203) Febbri periodiche Novartis x x Studio randomizzato, in doppio cieco, Canakinumab x Gruppo di studio di (TRAPS, HIDS, controllato verso placebo con reumatologia crFMF) canakinumab in pazienti con febbri pediatrica periodiche ereditarie (TRAPS, HIDS oppure crFMF), con successivo periodo randomizzato di sospensione/riduzione della frequenza di somministrazione del trattamento, e periodo di trattamento a lungo termine in aperto (CACZ885N2301) Artrite idiopatica Novartis x x Studio in aperto di efficacia e sicurezza Canakinumab x End of Study giovanile a decorso sulla riduzione della dose o il expected by sistemico (sJIA)/ prolungamento dell’intervallo di September 2017 somministrazione di canakinumab (ACZ885) in pazienti con artrite idiopatica giovanile sistemica (SJIA) - (CACZ885G2306)

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Artrite idiopatica Novartis x x Studio in tre parti randomizzato, in Secukinumab x Gruppo di studio di giovanile associate doppio cieco, controllato verso reumatologia a entesite (ERA) / placebo, per indagare l’efficacia e la pediatrica Artrite psoriasica sicurezza della terapia con (PsA) secukinumab per due tipi di artrite idiopatica giovanile: artrite psoriasica e artrite entesite-relata (CAIN457F2304) Artrite idiopatica Abbott x x Registro a lungo termine di HUMIRA Adalimumab x Gruppo di studio di giovanile a decorso (Adalimumab) nell’artrite idiopatica reumatologia poliarticolare (pJIA) giovanile (AIG): studio osservazionale, pediatrica non interventistico, di coorte prospettico, multicentrico, per valutare la sicurezza e l’efficacia a lungo termine di HUMIRA® (Adalimumab) in pazienti con artrite idiopatica giovanile (AIG) poliarticolare attiva da moderata a severa o con AIG con decorso poliarticolare (P10-262) Artrite idiopatica Bristol-Myers x x Studio di fase 3, multicentrico, in Abatacept 2016 Gruppo di studio di giovanile a decorso Squibb aperto per valutare la farmacocinetica, reumatologia poliarticolare (pJIA) l’efficacia e la sicurezza di abatacept pediatrica sottocute (SC) in bambini e adolescenti con artrite idiopatica giovanile a decorso poliarticolare in fase attiva (pJIA) e risposta insufficiente a farmaci biologici o non biologici (DMARDs) (NCT01844518) Artrite idiopatica Sanofi x x Studio in aperto, sequenziale, a dose Sarilumab x Gruppo di studio di giovanile a decorso crescente per identificare la dose reumatologia poliarticolare (pJIA) terapeutica per il Sarilumab per via pediatrica sottocutanea in bambini e adolescenti, tra i 2 e 17 anni, con artrite idiopatica giovanile a decorso poliarticolare (pJIA), seguito da uno studio di estensione (DRI13925) 411

Artrite idiopatica Sanofi x x Studio in aperto, sequenziale, a dose Sarilumab x Gruppo di studio di giovanile a decorso crescente per identificare la dose reumatologia sistemico (sJIA) terapeutica per il Sarilumab per via pediatrica sottocutanea in bambini e adolescenti, tra i 2 e 17 anni, con artrite idiopatica giovanile a decorso sistemico (sJIA), seguito da uno studio di estensione (DRI13926) Panarterite nodosa University of x x Studio clinico controllato e Micofenolato x Gruppo di studio di giovanile (PAN) London randomizzato in aperto di mofetile reumatologia micofenolato mofetile (MMF) contro pediatrica ciclofosfamide (CYC) per l’induzione della remissione della poliarterite nodosa giovanile (PAN) ISRCTN75434563 Malattia di Hopitaux de X x Sudio di fase 2, multicentrico per Anakinra x Gruppo di studio di Kawasaki Paris valutare l’efficacia e la sicurezza di reumatologia anakinra nei pazienti con malattia di pediatrica Kawasaki resistenti al trattamento con infusione di immunoglobuline (AOM13520) Sindrome da Novimmune x x Studio pilota, in aperto, singolo braccio Anti-INFγ x Gruppo di studio di attivazione di studio, multicentrico, per valutare la Abm reumatologia macrofagica (MAS) sicurezza, la tollerabilità, la pediatrica / linfoistiocitosi farmacocinetica e l’efficacia emofagocitica dell’infusione per via endovenosa di secondaria (sHLH) NI-0501, un anticorpo monoclonale anti-interferon gamma (anti-IFNγ), in pazienti con syndrome da attivazione macrofagica (MAS) in corso di artrite idiopatica giovanile sistemica (sJIA) /HLH secondaria (sHLH)

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Partecipazione Nazionale a ERN

Le Sindromi Autoinfiammatorie

Marco Gattorno U.O Pediatria II dell’Ospedale “Gaslini” e Dipartimento di Pediatria dell’Università di Genova

Con questo termine si definiscono alcune affezioni, ad ereditarietà ADA2, legato ad una poliarterite ad esordio precoce associata a stroke e le monogenica, caratterizzate da una alterazione dei meccanismi di controllo cosidette Interferonopate (sindrome di Candle e SAVI), secondarie ad una della risposta infiammatoria. Tali malattie possono assumere un disregolazione dei meccanismi di attivazione dell’interferone di tipo I. andamento periodico o ricorrente (Febbri periodiche), caratterizzato da Dal 2009 esiste un registro internazionale, Eurofever accessi febbrili spesso accompagnati da sintomatologia muco-cutanea, (www.printo.it/eurofever). Il registro raccoglie 3650 pazienti pediatrici ed gastrointestinale e articolare (Febbre Familiare Mediterranea, Sindrome adulti da 108 centri in 39 paesi europei ed extra-europei. I dati raccolti TRAPS, Sindrome da IperIgD). In altre situazioni la componente hanno permesso la pubblicazione delle più ampie casistiche di malattie infiammatoria invece ad assumere un carattere cronico e sistemico, con autoinfiammatorie monogeniche, di riportare le risposte ai trattamenti coinvolgimento di diversi organi o apparati (S. di Muckle-Wells o Sindrome biologici e non in uso in queste patologia e la messa a punto di nuovi criteri CINCA). In un terzo gruppo di malattie, la componeNte infiammatoria tende classificativi evidence-based. Tale registro rappresenta l’ideale strumento ad essere prevalentemente localizzata a specifiche strutture, quali le per incrementare una collaborazione sempre più stretta tra le diverse articolazioni, la cute o l’occhio (sindromi di Blau, PAPA, DIRA, DITRA, patologie rare di natura immunologica, nell’ambito dell’European Majeed). Recentemente sono state evidenziate entità cliniche Reference Network (ERN). monogeniche associate a interessamento vascolare, come il difetto di

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Malattie rare in età pediatrica: Ricerca, farmaci orfani e reti europee di riferimento

Malattie cardiologiche pediatriche A cura della Società Italiana di Cardiologia Pediatrica – SICP (Presidente: Maria Giovanna Russo)

Giuseppe Limongelli M. Giovanna Russo

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Malattie Cardiovascolari - Partecipazione Nazionale a ERN

Giuseppe Limongelli AORN Monaldi - Università della Campania Luigi Vanvitelli

Maria GIovanna Russo AORN Monaldi - Università della Campania Luigi Vanvitelli - Presidente SICP

Le malattie rare del cuore rappresentano un settore per tanti 1. Cardiomiopatie Adulti anni “orfano” dell’interesse dei cardiologi pediatri e dell’adulto, ma che ad 2. Aritmie (Disturbi Elettrici) Familiari oggi sta iniziando ad avere sempre maggiore attenzione. 3. Patologie pediatriche Cardiopatie congenite, cardiomiopatie, aortopatie, malattie del pericardio, malattie dei canali ionici, malattie ereditarie associate a morte improvvisa Considerando che la il DL 279/2001, non comprende tra le malattie del cardiaca giovanile, sono tutte condizioni rare, ma che spesso sono gravate sistema circolatorio nessuno di queste condizioni, per aderire alla rete, ed da alto tasso di “morbilità” (necessità di intervento, complicanze) e esser inquadrati in una o piu’ categorie, i centri hanno dovuto certificare mortalità (morte improvvisa, morte peri-post operatoria, scompenso (attraverso la presentazione di dati, SDO, partecipazioni e registri cardiaco). riconosciuti, etc) di seguire un numero target di pazienti, di avere una In Italia, l’expertise è elevatissimo nelle cardiopatie congenite, nelle produzione scientifica e/o un ruolo di leader in studi clinici inerenti alla cardiomiopatie pediatriche, nelle malattie dei canali ionici. Non c’è grossa specifica categoria. Tra i 24 centri europei complessivi, in Italia, i centri esperienza in fieri di trial pediatrici, ma all’orizzonte si affacciano nuove pediatrici che afferiscono al momento alla rete sono: Padova (Clinica prospettive nel campo delle cardiomiopatie e dei canali ionici. Anche le Pediatrica – Azienda Ospedaliera di Padova), Roma (Ospedale Pediatrico malattie cardiache hanno una loro rete europea. Bambino Gesù), e Napoli (Ospedale Monaldi/ AORN Colli/Università della La rete ERN per le malattie cardiache è stata denominata GUARD-HEART Campania). Il primo obiettivo è stato raggiunto con la creazione di (Gateway to Uncommon And Rare Diseases of the HEART) ed è coordinata un “Registro sul QT lungo” proposto dalla Dr.ssa Sequella Brugada all’ultimo dal Dr. Arthur Wilde presso l’Academic Medical Centre di Amsterdam. incontro di Vilnius. Le malattie sono state classificate in 4 sottocategorie che comprendono:

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