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Educational Paper Ciliopathies
Eur J Pediatr (2012) 171:1285–1300 DOI 10.1007/s00431-011-1553-z REVIEW Educational paper Ciliopathies Carsten Bergmann Received: 11 June 2011 /Accepted: 3 August 2011 /Published online: 7 September 2011 # The Author(s) 2011. This article is published with open access at Springerlink.com Abstract Cilia are antenna-like organelles found on the (NPHP) . Ivemark syndrome . Meckel syndrome (MKS) . surface of most cells. They transduce molecular signals Joubert syndrome (JBTS) . Bardet–Biedl syndrome (BBS) . and facilitate interactions between cells and their Alstrom syndrome . Short-rib polydactyly syndromes . environment. Ciliary dysfunction has been shown to Jeune syndrome (ATD) . Ellis-van Crefeld syndrome (EVC) . underlie a broad range of overlapping, clinically and Sensenbrenner syndrome . Primary ciliary dyskinesia genetically heterogeneous phenotypes, collectively (Kartagener syndrome) . von Hippel-Lindau (VHL) . termed ciliopathies. Literally, all organs can be affected. Tuberous sclerosis (TSC) . Oligogenic inheritance . Modifier. Frequent cilia-related manifestations are (poly)cystic Mutational load kidney disease, retinal degeneration, situs inversus, cardiac defects, polydactyly, other skeletal abnormalities, and defects of the central and peripheral nervous Introduction system, occurring either isolated or as part of syn- dromes. Characterization of ciliopathies and the decisive Defective cellular organelles such as mitochondria, perox- role of primary cilia in signal transduction and cell isomes, and lysosomes are well-known -
Clinical Classification of Caroli's Disease: an Analysis of 30 Patients
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector DOI:10.1111/hpb.12330 HPB ORIGINAL ARTICLE Clinical classification of Caroli's disease: an analysis of 30 patients Zhong-Xia Wang1,2*, Yong-Gang Li2*, Rui-Lin Wang2, Yong-Wu Li3, Zhi-Yan Li3, Li-Fu Wang2, Hui-Ying Yang2, Yun Zhu2, Yao Wang2, Yun-Feng Bai2, Ting-Ting He2, Xiao-Feng Zhang2 & Xiao-He Xiao1,2 1Department of Graduate School, 301 Hospital, 2Integrative Medical Centre, and 3Imaging Centre, 302 Hospital, Beijing, China Abstract Background: Caroli's disease (CD) is a rare congenital disorder. The early diagnosis of the disease and differentiation of types I and II are of extreme importance to patient survival. This study was designed to review and discuss observations in 30 patients with CD and to clarify the clinical characteristics of the disease. Methods: The demographic and clinical features, laboratory indicators, imaging findings and pathology results for 30 patients with CD were reviewed retrospectively. Results: Caroli's disease can occur at any age. The average age of onset in the study cohort was 24 years. Patients who presented with symptoms before the age of 40 years were more likely to develop type II CD. Approximately one-third of patients presented without positive signs at original diagnosis and most of these patients were found to have type I CD on pathology. Anaemia, leucopoenia and thrombocytopoenia were more frequent in patients with type II than type I CD. Magnetic resonance cholangiopancreatography (MRCP) and computed tomography (CT) examinations were most useful in diagnosing CD. -
Biliary Tract
2016-06-16 The role of cytology in management of diseases of hepatobiliary ducts • Diagnosis in patients with radiologically/clinically detected lesions • Screening of dysplasia/CIS/cancer in risk groups biliary tract cytology • Preoperative evaluation of the candidates for liver transplantation (Patients with cytological low-grade and high-grade Mehmet Akif Demir, MD dysplasia/adenocarcinoma are currently referred for liver transplantation Sahlgrenska University Hospital in some institutions). Gothenburg Sweden Sarajevo 18th June 2016 • Diagnosis of the benign lesions and infestations False positive findings • majority of false positive cases have a Low sensitivity but high specificity! background of primary sclerosing cholangitis. – lymphoplasmacytic sclerosing pancreatitis and cholangitis, – primary sclerosing cholangitis, – granulomatous disease, – non-specific fibrosis/inflammation – stone disease. False negative findings • Repeat brushing increases the diagnostic yield and should be performed when sampling • Poor sampling biliary strictures with a cytology brush at ERCP. • Lack of diagnostic criteria for dysplasia-carcinoma in situ • Difficulties in recognition of special tumour types – well-differentiated cholangiocarcinoma with tubular architecture • Predictors of positive yield include – gastric foveolar type cholangiocarcinoma with mucin-producing – tumour cells. older age, •Underestimating the significance of the smear background – mass size >1 cm, and – stricture length of >1 cm. •The causes of false negative cytology –sampling -
A Diagnostic Approach to Pruritus
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by DigitalCommons@University of Nebraska University of Nebraska - Lincoln DigitalCommons@University of Nebraska - Lincoln U.S. Air Force Research U.S. Department of Defense 2011 A Diagnostic Approach to Pruritus Brian V. Reamy Christopher W. Bunt Stacy Fletcher Follow this and additional works at: https://digitalcommons.unl.edu/usafresearch This Article is brought to you for free and open access by the U.S. Department of Defense at DigitalCommons@University of Nebraska - Lincoln. It has been accepted for inclusion in U.S. Air Force Research by an authorized administrator of DigitalCommons@University of Nebraska - Lincoln. A Diagnostic Approach to Pruritus BRIAN V. REAMY, MD, Uniformed Services University of the Health Sciences, Bethesda, Maryland CHRISTOPHER W. BUNT, MAJ, USAF, MC, and STACY FLETCHER, CAPT, USAF, MC Ehrling Bergquist Family Medicine Residency Program, Offutt Air Force Base, Nebraska, and the University of Nebraska Medical Center, Omaha, Nebraska Pruritus can be a symptom of a distinct dermatologic condition or of an occult underlying systemic disease. Of the patients referred to a dermatologist for generalized pruritus with no apparent primary cutaneous cause, 14 to 24 percent have a systemic etiology. In the absence of a primary skin lesion, the review of systems should include evaluation for thyroid disorders, lymphoma, kidney and liver diseases, and diabetes mellitus. Findings suggestive of less seri- ous etiologies include younger age, localized symptoms, acute onset, involvement limited to exposed areas, and a clear association with a sick contact or recent travel. Chronic or general- ized pruritus, older age, and abnormal physical findings should increase concern for underly- ing systemic conditions. -
Unraveling the Genetics of Joubert and Meckel-Gruber Syndromes
Journal of Pediatric Genetics 3 (2014) 65–78 65 DOI 10.3233/PGE-14090 IOS Press Unraveling the genetics of Joubert and Meckel-Gruber syndromes Katarzyna Szymanska, Verity L. Hartill and Colin A. Johnson∗ Department of Ophthalmology and Neuroscience, University of Leeds, Leeds, UK Received 27 May 2014 Revised 11 July 2014 Accepted 14 July 2014 Abstract. Joubert syndrome (JBTS) and Meckel-Gruber syndrome (MKS) are recessive neurodevelopmental conditions caused by mutations in proteins that are structural or functional components of the primary cilium. In this review, we provide an overview of their clinical diagnosis, management and molecular genetics. Both have variable phenotypes, extreme genetic heterogeneity, and display allelism both with each other and other ciliopathies. Recent advances in genetic technology have significantly improved diagnosis and clinical management of ciliopathy patients, with the delineation of some general genotype-phenotype correlations. We highlight those that are most relevant for clinical practice, including the correlation between TMEM67 mutations and the JBTS variant phenotype of COACH syndrome. The subcellular localization of the known MKS and JBTS proteins is now well-described, and we discuss some of the contemporary ideas about ciliopathy disease pathogenesis. Most JBTS and MKS proteins localize to a discrete ciliary compartment called the transition zone, and act as structural components of the so-called “ciliary gate” to regulate the ciliary trafficking of cargo proteins or lipids. Cargo proteins include enzymes and transmembrane proteins that mediate intracellular signaling. The disruption of transition zone function may contribute to the ciliopathy phenotype by altering the composition of the ciliary membrane or axoneme, with impacts on essential developmental signaling including the Wnt and Shh pathways as well as the regulation of secondary messengers such as inositol-1,4,5-trisphosphate (InsP3) and cyclic adenosine monophosphate (cAMP). -
CD133 Expression in Placenta Chorioangioma Presenting As a Giant Asymptomatic Mass
medicina Case Report CD133 Expression in Placenta Chorioangioma Presenting as a Giant Asymptomatic Mass Gianluca Di Massa 1,†, Guglielmo Stabile 2,† , Federico Romano 2 , Andrea Balduit 3 , Alessandro Mangogna 2,* , Beatrice Belmonte 4 , Pina Canu 1, Emma Bertucci 5, Giuseppe Ricci 2,6,‡ and Tiziana Salviato 1,‡ 1 Department of Diagnostic, Clinic and Public Health Medicine, University of Modena and Reggio Emilia, 41125 Modena, Italy; [email protected] (G.D.M.); [email protected] (P.C.); [email protected] (T.S.) 2 Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Via dell’Istria, 65/1, 34137 Trieste, Italy; [email protected] (G.S.); [email protected] (F.R.); [email protected] (G.R.) 3 Department of Life Sciences, University of Trieste, 34127 Trieste, Italy; [email protected] 4 Tumor Immunology Unit, Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, 90134 Palermo, Italy; [email protected] 5 Prenatal Medicine Unit, Obstetrics and Gynecology Unit, Department of Medical and Surgical Sciences for Mother, Child and Adult, University of Modena and Reggio Emilia, 41125 Modena, Italy; [email protected] 6 Department of Medical, Surgical and Health Science, University of Trieste, 34129 Trieste, Italy * Correspondence: [email protected]; Tel.: +39-320-612-3370 † These authors contributed equally to this article. Citation: Di Massa, G.; Stabile, G.; ‡ These authors contributed equally to this article. Romano, F.; Balduit, A.; Mangogna, A.; Belmonte, B.; Canu, P.; Abstract: Background: Placental chorioangioma is the most common benign non-trophoblastic neo- Bertucci, E.; Ricci, G.; Salviato, T. -
Mouse Models of Gastric Cancer
Cancers 2013, 5, 92-130; doi:10.3390/cancers5010092 OPEN ACCESS cancers ISSN 2072-6694 www.mdpi.com/journal/cancers Review Mouse Models of Gastric Cancer Yoku Hayakawa 1, James G. Fox 2, Tamas Gonda 1, Daniel L. Worthley 1, Sureshkumar Muthupalani 2 and Timothy C. Wang 1,* 1 Department of Medicine and Irving Cancer Research Center, Columbia University Medical Center, New York, NY 10032, USA 2 Division of Comparative Medicine, MIT, Cambridge, MA 02139, USA * Author to whom correspondence should be addressed; E-Mail: [email protected]. Received: 5 December 2012; in revised form: 8 January 2013 / Accepted: 15 January 2013 / Published: 24 January 2013 Abstract: Animal models have greatly enriched our understanding of the molecular mechanisms of numerous types of cancers. Gastric cancer is one of the most common cancers worldwide, with a poor prognosis and high incidence of drug-resistance. However, most inbred strains of mice have proven resistant to gastric carcinogenesis. To establish useful models which mimic human gastric cancer phenotypes, investigators have utilized animals infected with Helicobacter species and treated with carcinogens. In addition, by exploiting genetic engineering, a variety of transgenic and knockout mouse models of gastric cancer have emerged, such as INS-GAS mice and TFF1 knockout mice. Investigators have used the combination of carcinogens and gene alteration to accelerate gastric cancer development, but rarely do mouse models show an aggressive and metastatic gastric cancer phenotype that could be relevant to preclinical studies, which may require more specific targeting of gastric progenitor cells. Here, we review current gastric carcinogenesis mouse models and provide our future perspectives on this field. -
The Nutrition and Food Web Archive Medical Terminology Book
The Nutrition and Food Web Archive Medical Terminology Book www.nafwa. -
Photodermatoses Update Knowledge and Treatment of Photodermatoses Discuss Vitamin D Levels in Photodermatoses
Ashley Feneran, DO Jenifer Lloyd, DO University Hospitals Regional Hospitals AMERICAN OSTEOPATHIC COLLEGE OF DERMATOLOGY Objectives Review key points of several photodermatoses Update knowledge and treatment of photodermatoses Discuss vitamin D levels in photodermatoses Types of photodermatoses Immunologically mediated disorders Defective DNA repair disorders Photoaggravated dermatoses Chemical- and drug-induced photosensitivity Types of photodermatoses Immunologically mediated disorders Polymorphous light eruption Actinic prurigo Hydroa vacciniforme Chronic actinic dermatitis Solar urticaria Polymorphous light eruption (PMLE) Most common form of idiopathic photodermatitis Possibly due to delayed-type hypersensitivity reaction to an endogenous cutaneous photo- induced antigen Presents within minutes to hours of UV exposure and lasts several days Pathology Superficial and deep lymphocytic infiltrate Marked papillary dermal edema PMLE Treatment Topical or oral corticosteroids High SPF Restriction of UV exposure Hardening – natural, NBUVB, PUVA Antimalarial PMLE updates Study suggests topical vitamin D analogue used prophylactically may provide therapeutic benefit in PMLE Gruber-Wackernagel A, Bambach FJ, Legat A, et al. Br J Dermatol, 2011. PMLE updates Study seeks to further elucidate the pathogenesis of PMLE Found a decrease in Langerhans cells and an increase in mast cell density in lesional skin Wolf P, Gruber-Wackernagel A, Bambach I, et al. Exp Dermatol, 2014. Actinic prurigo Similar to PMLE Common in native -
Placenta 111 (2021) 33–46
Placenta 111 (2021) 33–46 Contents lists available at ScienceDirect Placenta journal homepage: www.elsevier.com/locate/placenta Review Placental pathology in cancer during pregnancy and after cancer treatment exposure Vera E.R.A. Wolters a, Christine A.R. Lok a, Sanne J. Gordijn b, Erica A. Wilthagen c, Neil J. Sebire d, T. Yee Khong e, J. Patrick van der Voorn f, Fred´ ´eric Amant a,g,* a Department of Gynecologic Oncology and Center for Gynecologic Oncology Amsterdam (CGOA), Netherlands Cancer Institute - Antoni van Leeuwenhoek and University Medical Centers Amsterdam, Plesmanlaan 121, 1066, CX Amsterdam, the Netherlands b Department of Gynaecology and Obstetrics, University of Groningen, University Medical Center Groningen, CB 20 Hanzeplein 1, 9713, GZ Groningen, the Netherlands c Scientific Information Service, Netherlands Cancer Institute - Antoni van Leeuwenhoek, Plesmanlaan 121, 1066, CX Amsterdam, the Netherlands d Department of Paediatric Pathology, NIHR Great Ormond Street Hospital BRC, London, WC1N 3JH, United Kingdom e SA Pathology, Women’s and Children’s Hospital, 72 King William Road, North Adelaide, SA5006, Australia f Department of Pathology, University Medical Centers Amsterdam, Location VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, the Netherlands g Department of Oncology, KU Leuven, Herestraat 49, 3000, Leuven, Belgium ARTICLE INFO ABSTRACT Keywords: Cancer during pregnancy has been associated with (pathologically) small for gestational age offspring, especially Placenta after exposure to chemotherapy in utero. These infants are most likely growth restricted, but sonographic results Cancer are often lacking. In view of the paucity of data on underlying pathophysiological mechanisms, the objective was Pregnancy to summarize all studies investigating placental pathology related to cancer(treatment). -
ORIGINAL ARTICLE Morphologic Changes of Middle Ear Mucosa In
The Mediterranean Journal of Otology ORIGINAL ARTICLE Morphologic changes of middle ear mucosa in chronic otitis media with or without cholesteatoma Sertaç Yetifler, Yusuf H›d›r, M. Salih Deveci Ac›badem Hospital, Bursa, (S. Yetifler), TURKEY, Gulhane Medical School, Dept of ORL & OBJECTIVE: To investigate histopathologic differences between chronic HNS, Etlik-Ankara, (Y. H›d›r), Gulhane Medical School, Dept of otitis media (COM) with cholesteatoma and COM without cholesteatoma. Pathology, Etlik-Ankara, (M.S. MATER‹ALS AND METHODS: This retrospective study is an analysis of 74 Deveci), TURKEY middle ear biopsies from the promontory near the round window taken at Correspondent Author: first operation for COM performed. Thirty ears had COM with Yusuf Hidir, MD cholesteatoma. The other 44 ears had COM without cholesteatoma. Gulhane Medical School Materials were stained by Hematoxylin-eosin and Toluidine blue. Density Dept of ORL & HNS of gland and secretory cell, epithelial thickness, number of ciliated cell, 06018 Etlik, Ankara, Turkey infiltration and migration of chronic inflammatory cells (lymphocyte and Tel: +90 312 304 5731 plasma cell) and grade of vascular dilatation and proliferation between the Fax: +90 312 304 5700 patients with or without cholesteatoma were compared. The analysis of E-mail: [email protected] quantitative parameters was performed using Pearson χ2 test. Submitted: 16 December 2007 RESULTS: Infiltration and migration of lymphocyte and plasma cells, and Revised: 08 June 2008 grade of vascular dilatation and proliferation were significantly greater in Accepted: 15 July 2008 ears without cholesteatoma than those with cholesteatoma. Mediterr J Otol 2008; 4: 102-108 CONCLUS‹ONS: These findings indicate that distinct physiopathologic mechanisms may play role in development of COM in terms of presence of cholesteatoma. -
Cryotherapy in the Treatment of Glandular
Cryotherapy in the treatment of glandular odontogenic cyst: case report and review Crioterapia no tratamento de cisto odontogênico glandular: relato de caso e revisão Milene Borges Campagnaro* Raquel Medeiros Farias* Roger Correa de Barros Berthold** Márcia Rejane Brücker*** Fábio Dal Moro Maito**** Claiton Heitz***** Objective: The Glandular Odontogenic Cyst (GOC) is Introduction a rare benign odontogenic lesion, of considerable ag- gression, and often incorrectly diagnosed. We present a Glandular Odontogenic Cyst (GOC) was first patient with a Glandular Odontogenic Cyst in the pos- described by Gardner in 1988 as a distinct clinical terior mandible, its evolution, treatment, and follow-up. pathologic entity, and it was included in the WHO Case report: A female patient, 45 years old, was referred histological typing of odontogenic tumors under to the Oral and Maxillofacial Surgery and Traumatology GOC or sialo-odontogenic cyst1-5. Division at Cristo Redentor Hospital, Porto Alegre, Bra- Glandular Odontogenic Cyst is a rare lesion, of zil, for the assessment of a painful edema on the right considerable aggressive behavior, originated at the hemiface. A unilocular area with well-defined borders 1-5 in the retromolar region, posterior to the third molar on areas of dental support . Clinically, the most affec- the right side of the mandible. The histopathological ted site is the anterior part of the mandible and it examination suggested GOC. Final considerations: The mostly occurs in middle-aged patients with a slight Glandular Odontogenic Cyst needs a complete clinical male prevalence2,4-8. Epidemiological features are assessment associated with image analyses, and espe- scarce due to the rarity of the lesion and a review in cially, with histopathology for the correct diagnosis of 2008 pointed 111 cases published in the literature6.