A Case of Cutis Pleonasmus
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(12) Patent Application Publication (10) Pub. No.: US 2010/0210567 A1 Bevec (43) Pub
US 2010O2.10567A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2010/0210567 A1 Bevec (43) Pub. Date: Aug. 19, 2010 (54) USE OF ATUFTSINASATHERAPEUTIC Publication Classification AGENT (51) Int. Cl. A638/07 (2006.01) (76) Inventor: Dorian Bevec, Germering (DE) C07K 5/103 (2006.01) A6IP35/00 (2006.01) Correspondence Address: A6IPL/I6 (2006.01) WINSTEAD PC A6IP3L/20 (2006.01) i. 2O1 US (52) U.S. Cl. ........................................... 514/18: 530/330 9 (US) (57) ABSTRACT (21) Appl. No.: 12/677,311 The present invention is directed to the use of the peptide compound Thr-Lys-Pro-Arg-OH as a therapeutic agent for (22) PCT Filed: Sep. 9, 2008 the prophylaxis and/or treatment of cancer, autoimmune dis eases, fibrotic diseases, inflammatory diseases, neurodegen (86). PCT No.: PCT/EP2008/007470 erative diseases, infectious diseases, lung diseases, heart and vascular diseases and metabolic diseases. Moreover the S371 (c)(1), present invention relates to pharmaceutical compositions (2), (4) Date: Mar. 10, 2010 preferably inform of a lyophilisate or liquid buffersolution or artificial mother milk formulation or mother milk substitute (30) Foreign Application Priority Data containing the peptide Thr-Lys-Pro-Arg-OH optionally together with at least one pharmaceutically acceptable car Sep. 11, 2007 (EP) .................................. O7017754.8 rier, cryoprotectant, lyoprotectant, excipient and/or diluent. US 2010/0210567 A1 Aug. 19, 2010 USE OF ATUFTSNASATHERAPEUTIC ment of Hepatitis BVirus infection, diseases caused by Hepa AGENT titis B Virus infection, acute hepatitis, chronic hepatitis, full minant liver failure, liver cirrhosis, cancer associated with Hepatitis B Virus infection. 0001. The present invention is directed to the use of the Cancer, Tumors, Proliferative Diseases, Malignancies and peptide compound Thr-Lys-Pro-Arg-OH (Tuftsin) as a thera their Metastases peutic agent for the prophylaxis and/or treatment of cancer, 0008. -
With a Learning Disability; Guidance for General Practice
Improving identification of people with a learning disability: guidance for general practice NHS England and Improvement Publishing Approval Reference: 001030 Version 1 NHS England and NHS Improvement Contents Introduction .................................................................................... 2 Actions for practices ....................................................................... 4 Appendix 1: List of codes that indicate a learning disability ........... 7 Appendix 2: List of codes that may indicate a learning disability . 14 Appendix 3: List of outdated codes .............................................. 20 Appendix 4: Learning disability identification check-list ............... 22 1 | Contents Introduction 1. The NHS Long Term Plan1 commits to improve uptake of the existing annual health check in primary care for people aged over 14 years with a learning disability, so that at least 75% of those eligible have a learning disability health check each year. 2. There is also a need to increase the number of people receiving the annual seasonal flu vaccination, given the level of avoidable mortality associated with respiratory problems. 3. In 2017/18, only 44.6% of patients with a learning disability received a flu vaccination and only 55.1% of patients with a learning disability received an annual learning disability health check.2 4. In June 2019, NHS England and NHS Improvement announced a series of measures to improve coverage of annual health checks and flu vaccination for people with a learning disability. One of the commitments was to improve the quality of registers for people with a learning disability3. Clinical coding review 5. Most GP practices have developed a register of their patients known to have a learning disability. This has been developed from clinical diagnoses, from information gathered from learning disabilities teams and social services and has formed the basis of registers for people with learning disability developed for the Quality and Outcomes Framework (QOF). -
Rare Case Report of Ambiguous Genitalia with Apert Syndrome
Sumerianz Journal of Medical and Healthcare, 2019, Vol. 2, No. 1, pp. 1-4 ISSN(e): 2663-421X, ISSN(p): 2706-8404 Website: https://www.sumerianz.com © Sumerianz Publication CC BY: Creative Commons Attribution License 4.0 Original Article Open Access Rare Case Report of Ambiguous Genitalia With Apert Syndrome Bassem Abou Merhi* Associate Professor of Clincal Pediatrics Lebanese University-Faculty of Medical Sciences Department of Pediatric Beirut, Lebanon Fatima Bohlok Pediatric Resident, PGY3 Lebanese University-Faculty of Medical Sciences Department of Pediatrics Beirut, Lebanon Narjes Hazimeh Pediatric Resident, PGY4 Lebanese University-Faculty of Medical Sciences Department of Pediatrics Beirut, Lebanon Zahraa Abou Hamdan Pediatric Resident, PGY3 Lebanese University-Faculty of Medical Sciences Department of Pediatrics Beirut, Lebanon Maen Chemaly Pediatrician and Neonatologist Lebanese University-Faculty of Medical Sciences Department of Pediatrics Beirut, Lebanon Abstract Apert syndrome is a rare developmental malformation [1]. It’s also known as, Acrocephalosyndactyly, characterized by premature fusion of the cranial suture (Craniosynostosis), malformation in the skull, the face, the hands and the feet [2], [3]. We here report an unusual presentation of Apert syndrome in a one day old baby presented with Acrocephalofacial malformation associated with ambiguous genitalia. Keywords: Apert syndrome; Acrocephalosyndactyly; Ambiguous genitalia. 1. Introduction Apert syndrome was first reported by Wheaton in 1894 and French pediatrician Eugene Apert published a series of nine cases in 1906 [1]; [4]. It’s one of the rare causes of craniofacial syndrome or deformity, characterized by malformation such as Craniosynostosis, a cone-shaped calvarium (Acrocephaly), hypertelorism, midface hypoplasia, pseudo cleft-palate, a parrot beak-shaped nose, pharyngeal attenuation, and syndactyly of the hands and feet [1]. -
Prevalence of Rare Diseases: Bibliographic Data
Prevalence distribution of rare diseases 200 180 160 140 120 100 80 Number of diseases 60 November 2009 40 May 2014 Number 1 20 0 0 5 10 15 20 25 30 35 40 45 50 Estimated prevalence (/100000) Prevalence of rare diseases: Bibliographic data Listed in alphabetical order of disease or group of diseases www.orpha.net Methodology A systematic survey of the literature is being Updated Data performed in order to provide an estimate of the New information from available data sources: EMA, prevalence of rare diseases in Europe. An updated new scientific publications, grey literature, expert report will be published regularly and will replace opinion. the previous version. This update contains new epidemiological data and modifications to existing data for which new information has been made Limitation of the study available. The exact prevalence rate of each rare disease is difficult to assess from the available data sources. Search strategy There is a low level of consistency between studies, a poor documentation of methods used, confusion The search strategy is carried out using several data between incidence and prevalence, and/or confusion sources: between incidence at birth and life-long incidence. - Websites: Orphanet, e-medicine, GeneClinics, EMA The validity of the published studies is taken for and OMIM ; granted and not assessed. It is likely that there - Registries, RARECARE is an overestimation for most diseases as the few - Medline is consulted using the search algorithm: published prevalence surveys are usually done in «Disease names» AND Epidemiology[MeSH:NoExp] regions of higher prevalence and are usually based OR Incidence[Title/abstract] OR Prevalence[Title/ on hospital data. -
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
Supplementary material J Med Genet ORPHA Disease or Group of diseases Number 300305 11p15.4 microduplication syndrome 444002 11q22.2q22.3 microdeletion syndrome 313884 12p12.1 microdeletion syndrome 94063 12q14 microdeletion syndrome 412035 13q12.3 microdeletion syndrome 261120 14q11.2 microdeletion syndrome 261229 14q11.2 microduplication syndrome 261144 14q12 microdeletion syndrome 264200 14q22q23 microdeletion syndrome 401935 14q24.1q24.3 microdeletion syndrome 314585 15q overgrowth syndrome 261183 15q11.2 microdeletion syndrome 238446 15q11q13 microduplication syndrome 199318 15q13.3 microdeletion syndrome 261190 15q14 microdeletion syndrome 94065 15q24 microdeletion syndrome 261211 16p11.2p12.2 microdeletion syndrome 261236 16p13.11 microdeletion syndrome 261243 16p13.11 microduplication syndrome 352629 16q24.1 microdeletion syndrome 261250 16q24.3 microdeletion syndrome 217385 17p13.3 microduplication syndrome 97685 17q11 microdeletion syndrome 139474 17q11.2 microduplication syndrome 261272 17q12 microduplication syndrome 363958 17q21.31 microdeletion syndrome 261279 17q23.1q23.2 microdeletion syndrome 254346 19p13.12 microdeletion syndrome 357001 19p13.13 microdeletion syndrome 447980 19p13.3 microduplication syndrome 217346 19q13.11 microdeletion syndrome 293948 1p21.3 microdeletion syndrome 401986 1p31p32 microdeletion syndrome 456298 1p35.2 microdeletion syndrome 250994 1q21.1 microduplication syndrome 238769 1q44 microdeletion syndrome 261295 20p12.3 microdeletion syndrome 313781 20p13 microdeletion syndrome 444051 20q11.2 -
List Rare Diseases.Txt
11 beta hydroxylase deficiency 11 beta hydroxysteroid dehydrogenase type 2 deficiency 17 alpha hydroxylase deficiency 17 beta hydroxysteroide dehydrogenase deficiency 2,8 dihydroxy-adenine urolithiasis 2-hydroxyglutaricaciduria 21 hydroxylase deficiency 3 beta hydroxysteroid dehydrogenase deficiency 3 hydroxyisobutyric aciduria 3 methylcrotonic aciduria 3 methylglutaconyl coa hydratase deficiency 3-hydroxy 3-methyl glutaryl-coa lyase deficiency 3-hydroxyacyl-coa dehydrogenase deficiency 3-methyl crotonyl-coa carboxylase deficiency 3-methyl glutaconic aciduria 3-methylcrotonylglycinuria 3c syndrome 3m syndrome 4 alpha hydroxyphenylpyruvate hydroxylase deficiency 46 xx gonadal dysgenesis epibulbar dermoid 47 XXY syndrome 47 xyy syndrome 48 xxxx syndrome 48 xxyy syndrome 49 xxxxx syndrome 49 xxxxy syndrome 5 alpha reductase 2 deficiency 6-pyruvoyltetrahydropterin synthase deficiency 7-dehydrocholesterol reductase deficiency aagenaes syndrome aarskog like syndrome aarskog ose pande syndrome aarskog syndrome aase smith syndrome aase syndrome abcd syndrome abdallat davis farrage syndrome abdominal aortic aneurysm abdominal cystic lymphangioma abdominal musculature absent microphthalmia joint laxity abetalipoproteinemia ablepharon macrostomia syndrome abnormal systemic veinous return abruzzo erickson syndrome absent corpus callosum cataract immunodeficiency absent hands and feet abuelo-forman-rubin syndrome acalvaria acanthocytosis chorea acanthocytosis neurologic disorder acanthosis nigricans acanthosis nigricans muscle cramps acral enlargement -
WO 2016/069591 A2 6 May 2016 (06.05.2016) W P O P C T
(12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (10) International Publication Number (43) International Publication Date WO 2016/069591 A2 6 May 2016 (06.05.2016) W P O P C T (51) International Patent Classification: (74) Agents: KOWALSKI, Thomas, J. et al; Vedder Price C12N 15/10 (2006.01) C12N 15/90 (2006.01) P.C., 1633 Broadway, New York, NY 1001 9 (US). C12N 15/63 (2006.01) C12Q 1/68 (2006.01) (81) Designated States (unless otherwise indicated, for every (21) International Application Number: kind of national protection available): AE, AG, AL, AM, PCT/US2015/057567 AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, (22) International Filing Date: DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, 27 October 2015 (27.10.201 5) HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KN, KP, KR, (25) Filing Language: English KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, (26) Publication Language: English PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, (30) Priority Data: SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, 62/122,686 27 October 2014 (27. 10.2014) US TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. (71) Applicants: THE BROAD INSTITUTE INC. [US/US]; (84) Designated States (unless otherwise indicated, for every 415 Main Street, Cambridge, MA 02142 (US). -
Ep 2188016 B1
(19) & (11) EP 2 188 016 B1 (12) EUROPEAN PATENT SPECIFICATION (45) Date of publication and mention (51) Int Cl.: of the grant of the patent: A61K 38/31 (2006.01) A61P 11/00 (2006.01) 01.08.2012 Bulletin 2012/31 A61P 31/06 (2006.01) A61P 31/04 (2006.01) A61P 7/00 (2006.01) A61P 9/00 (2006.01) (2006.01) (2006.01) (21) Application number: 08802149.8 A61P 13/00 A61P 15/00 A61P 17/00 (2006.01) A61P 19/00 (2006.01) (22) Date of filing: 09.09.2008 (86) International application number: PCT/EP2008/007598 (87) International publication number: WO 2009/033722 (19.03.2009 Gazette 2009/12) (54) USE OF OCTREOTIDE AS A THERAPEUTIC AGENT VERWENDUNG VON OCTREOTID ALS THERAPEUTISCHES MITTEL UTILISATION D’ OCTREOTIDE COMME AGENT THÉRAPEUTIQUE (84) Designated Contracting States: (74) Representative: Arth, Hans-Lothar AT BE BG CH CY CZ DE DK EE ES FI FR GB GR ABK Patent Attorneys HR HU IE IS IT LI LT LU LV MC MT NL NO PL PT Jasminweg 9 RO SE SI SK TR 14052 Berlin (DE) (30) Priority: 11.09.2007 EP 07017752 (56) References cited: EP-A- 0 222 578 (43) Date of publication of application: 26.05.2010 Bulletin 2010/21 • WOOD A J J: "Drug therapy" THE NEW ENGLAND JOURNAL OF MEDICINE, vol. 334, no. 4, 1996, (73) Proprietor: Mondobiotech Laboratories AG pages 246-254, XP002522071 9490 Vaduz (LI) • CORLETO V D ET AL: "Long-term octreotide treatment of metastatic carcinoid tumor" (72) Inventors: ANNALS OF ONCOLOGY, vol. -
Congenital Cutis Laxa
Congenital Cutis Laxa Congenital cutis laxa is a rare inherited connective tissue iv. A broad flat nose disorder manifested by inelastic, loose, pendulous skin, giving v. Sagging cheeks the appearance of premature aging. vi. Long upper lip vii. Short columella GENETICS/BASIC DEFECTS viii. Large ears e. Skin 1. Genetic heterogeneity i. Prominent skin folds (loose skin) around the a. Autosomal recessive cutis laxa: the most common knees, abdomen, and thighs type ii. No hyperelasticity, fragility, or difficulty in wound i. Type I autosomal recessive cutis laxa: less fre- healing quent than type II f. Skeletal muscular abnormalities ii. Type II autosomal recessive cutis laxa i. Dislocation of the hips b. Autosomal dominant cutis laxa ii. Joint hyperextensibility c. X-liked recessive cutis laxa iii. Hernia i. Previously called occipital horn syndrome iv. Osteoporosis ii. At present, best termed as Ehlers-Danlos syn- g. Cardiopulmonary abnormalities drome type IX i. Severe pulmonary emphysema resulting from 2. Biochemical and molecular defects generalized elastolysis a. Autosomal recessive cutis laxa type I: molecular studies a) Tachypnea in a large consanguineous Turkish family demon- b) Pneumonitis strated the presence of a homozygous missense muta- c) Airway obstruction tion (T998C) in the fibulin-5 (FBLN5) gene, resulting d) Severe hypoxia in a serine-to-proline (S227P) substitution in the e) Respiratory failure fourth calcium-binding epidermal growth factor-like ii. Cardiac abnormalities domain of fibulin-5 protein a) Right ventricular enlargement b. Autosomal dominant cutis laxa b) Cor pulmonale i. Can be caused by mutations in the elastin gene c) Bundle branch block ii. Molecular heterogeneity cannot be excluded d) Pulmonary artery hypoplasia and stenosis c. -
Genetic Molecular Basis of Cutis Laxa and Surgical Management
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) e-ISSN: 2279-0853, p-ISSN: 2279-0861.Volume 14, Issue 10 Ver. VIII (Oct. 2015), PP 32-41 www.iosrjournals.org Genetic Molecular Basis of Cutis Laxa and Surgical Management Dr.N.Mariappan1, Dr.Subha Dhua2, Dr.Sanket Shetty3, Dr.D.R.Shekar4 1,2Associate professor of Plastic Surgery, 3Postgraguate in plastic surgery, 4Professor and HOD, Department of Plastic and Reconstructive Surgery, Vydehi Institute of Medical sciences and Research centre, Bengaluru, India. Abstract: Cutis laxa is a rare condition involving the skin. There is loss of resilience, texture and quality of skin. The inherited form of cutis laxa is rather uncommon. Some 400 families have been reported in literature until now. The majority of the various subtypes of cutis laxa syndromes affect connective tissue development through structural gene defects. In most of the patients there is a strong histological evidence demonstrating an abnormal structure of elastin fibers and the associated extracellular matrix network of the skin.[1]Recently autosomal recessive cutis laxa syndrome type II(ARCL II; MIM 219200) emerged in the center of attention, due to the discovery of a unique underlying metabolic etiology.[2]This novel inborn error is a distinct form of the Congenital Disorders of Glycosylation (CDG). The defect is responsible for the phenotype in several patients diagnosed with the most common and viable form of the cutis laxa. Elastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ACDL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, aortic root dilatation and pulmonary emphysema. -
Rare Lung Disease Guide
International Conference May 15 - May 20 DENVER COLORADO Rare Lung Disease Guide www.thoracic.org May 2015 Dear Colleagues, The scope of the American Thoracic Society is amazingly broad - covering pulmonary, critical care and sleep medicine. Our challenge each year as we put the International Conference program together is that some clinical topics that may be of central importance to our members, conference attendees and patients may not be prominently featured in the program each year. This is the case with rare lung diseases. With each challenge though, comes opportunity. Because of the wealth of scientific and clinical information presented at ATS 2014, these diseases, though uncommon, will be the focus of many presentations during the next several days. The purpose of this roadmap is to help you find these presentations. Irina Petrache, MD In his chapter on rare lung diseases in Breathing in America: Diseases, Progress, and Hope (2010), Francis X. McCormack, MD, noted that research on uncommon Indiana University respiratory diseases has produced some of the most exciting discoveries in pulmonary medicine. “Insights gained from uncommon lung diseases often shed light on more common ones.” ATS 2015 The definition of a rare disease by its prevalence varies by country. In the European Union, for instance, it is defined as a disease that affects fewer than 1 in 2,000, International while in the United States it is a disease that affects fewer than 1 in 200,000, at any given moment. The list of diseases included here was drawn from the NIH Center Conference Chair for Advancing Translational Sciences Office of Rare Lung Disease Research,* and from the work of a small group of ATS Members who studied the ATS 2015 Abstracts. -
Orphanet Report Series 180 160 Collection 140 Rare Diseases
Prevalence distribution of rare diseases 200 Orphanet Report Series 180 160 collection 140 Rare Diseases 120 100 80 Number of diseases 60 May 2009 40 November 2011 Number 1 20 0 0 5 10 15 20 25 30 35 40 45 50 Estimated prevalence (/100000) Prevalence of rare diseases: Bibliographic data Listed in alphabetical order of diseases www.orpha.net 20102206 Methodology A systematic survey of the literature is being Updated Data performed in order to provide an estimate of the New information from available data sources: EMA, prevalence of rare diseases in Europe. An updated new scientific publications, grey literature, expert report will be published regularly and will replace opinion. the previous version. This update contains new epidemiological data and modifications to existing data for which new information has been made Limitation of the study available. The exact prevalence rate of each rare disease is difficult to assess from the available data sources. Search strategy There is a low level of consistency between studies, a poor documentation of methods used, confusion The search strategy is carried out using several data between incidence and prevalence, and/or confusion sources: between incidence at birth and life-long incidence. - Websites: Orphanet, e-medicine, GeneClinics, EMA The validity of the published studies is taken for and OMIM ; granted and not assessed. It is likely that there - Medline is consulted using the search algorithm: is an overestimation for most diseases as the few «Disease names» AND Epidemiology[MeSH:NoExp] published prevalence surveys are usually done in OR Incidence[Title/abstract] OR Prevalence[Title/ regions of higher prevalence and are usually based abstract] OR Epidemiology[Title/abstract] ; on hospital data.