DOCSLIB.ORG

Diagenos Schilddrüsen/Endokr

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text

Load more

Zweigstelle Bielefeld Städt. Kliniken Bielefeld diagenos Schilddrüsen/Endokr. Ambulanz Caprivistr. 30 Raum U1.725 49076 Osnabrück Teutoburger Str. 50 Tel +49 (0)541-432761 33604 Bielefeld Humangenetische Gemeinschaftspraxis Fax +49 (0)541-80019905 Tel. +49 (0)541-432761 Dres. Gencik [email protected] [email protected] Fachärzte für Humangenetik www.diagenos.com www.genetik-bielefeld.de ANFORDERUNG FÜR MOLEKULARGENETISCHE DIAGNOSTIK Name, Vorname des Patienten Name, Vorname des Einsenders geboren am Klinik ggf. Anschrift des Patienten Anschrift Telefon Fax Email des Patienten Telefon Fax Email Selbst erkrankt? Ethnische Herkunft Abrechnung über!Material & Menge: weiblich ja männlich nein anfordernde Klinik EDTA Blut Heparin-Blut Kasse: Überweisung Speichelprobe Chorionzotten Verdachtsdiagnose Symptome DNA-Analysen Vorbefunde Selbstzahler Fruchtwasser andere: Datum der Abnahme: Stempel und Unterschrift des einsendenden Arztes Patient im diagenos bekannt? Familienangehörige im diagenos bekannt? ja ja nein nein !!!!Datum Einverständnis des Patienten / der Patientin / des (gesetzlichen) Vertreters (gemäß GenDG Voraussetzung für die Durchführung der Untersuchung!) - bzw. ggf. Kopie einer gemäß GenDG der verantwortlichen ärztlichen Person erteilten Einwilligungserklärung - Mit meiner Unterschrift bestätige ich nach erfolgter Aufklärung und ggf. genetischer Beratung und unter Kenntnis meines Widerrufsrechtes mein Einverständnis mit der/den geplanten genetischen Analyse(n) und der dafür erforderlichen Probenentnahme. Ich bin damit einverstanden, dass die erhobenen Ergebnisse in Papierform sowie in elektronischer Form entsprechend der gesetzlichen Vorgaben gespeichert und ggf. in anonymisierter Form für wissenschaftliche Zwecke genutzt/publiziert werden. Die Ergebnisse der Untersuchungen müssen nicht entsprechend der gesetzlichen Vorgaben nach 10 Jahren vernichtet werden, damit sie ggf. meiner Familie auch nach meinem Tod zur Verfügung stehen. Nach Abschluss der Analyse verbleibendes Untersuchungsmaterial übereigne ich hiermit gemäß § 950 BGB dem Labor, welches die Analyse durchgeführt hat. Ich bin damit einverstanden, dass ggf. Daten für Abrechnungszwecke an eine Ärztliche Verrechnungsstelle bzw. Kassenärztliche Vereinigung weitergeleitet werden. Alle Angaben, die ich gemacht habe, sowie alle Ergebnisse der Untersuchungen unterliegen der ärztlichen Schweigepflicht und werden ohne meine Zustimmung nicht an Dritte weitergegeben. Diese Einwilligungserklärung kann ich jederzeit ohne Angabe von Gründen widerrufen. Ich hatte die notwendige Bedenkzeit. Mit der Aufbewahrung von Untersuchungsmaterial zum Zwecke der Nachprüfbarkeit der Ergebnisse bzw. für ergänzende Untersuchungen bin ich einverstanden. ja nein Mit der Aufbewahrung und Verwendung von Untersuchungsmaterial für wissenschaftliche Untersuchungen (in anonymisierter Form) bin ich einverstanden. ja nein Ich bin mit der Befundübermittlung an folgende Ärzte einverstanden: Ich bin mit der Befundübermittlung an folgende Faxnummer einverstanden: Unterschrift Patient/gesetzlicher Vertreter Ort Datum Unterschrift Arzt/Ärztin Ort Datum MOLEKULARGENETISCHE DIAGNOSTIK Augenerkrankungen Aniridie PAX6 Chorioideremie CHM Lebersche Optikusatrophie Ataxie-okulomotorische Apraxie Exsudative Vitreoretinopathie 1 FZD4 Peters Anomalie CYP1B1 AOA1 APTX Exsudative Vitreoretinopathie 4 LRP5 Peters-Plus Syndrom B3GALTL AOA2 SETX Glaukom CYP1B1 Retinitis pigmentosa 1 Anterior Segment Dysgenesie PITX3 Katarakt RP1 RP1 Axenfeld-Rieger Syndrom 1 PITX2 altersbedingt kortikal 2 EPHA2 RP13 PRPF8 Bardet-Biedl Syndrom posterior polar 1 EPHA2 RP14 PRPH2 BBS1 BBS1 autosomal-dominant, 1 BFSP2 RP18 HPRP3 BBS10 BBS10 autosomal-dominant MIP RP3 RPGR BBS12 BBS12 posterior polar 4 PITX3 RP4 RHO BBS2 BBS2 Kearns-Sayre Syndrom Retinoschisis 1 RS1 BBS6 BBS6 Lebersche kongenitale Amaurose GUCY2D Epilepsien Absenceepilepsie der Kindheit GABRG2 Epilepsie, idiopathisch generalisiert CLCN2 Myoklonische Epilepsie Lafora ADLTE LGI1 Epilepsie, juvenile myoklonische EPM2A Benigne familiäre Neugeborenenkrämpfe CACNB4 EPM2B KCNQ2 GABRA1 MERRF MTTK KCNQ3 CLCN2 Myokl. Ep. Unverricht / Lundborg CSTB Benigne familiäre infantile Krämpfe Epilepsie, Pyridoxin-abhängig ALDH7A1 West Syndrom ARX BIFS1 & BIFS2 PRRT2 GEFS+ / Dravet Sy. SCN2A GABRD Epileptische Enzephalopathie SCN1B juvenil, myoklonisch EFHC1 SCN1A frühinfantil 2 CDKL5 GABRG2 frühinfantil 5 SPTAN1 PCDH19 frühinfantil 9 PCDH19 SCN9A Lennox-Gastaut MAPK10 GLUT1-Mangel GLUT1 Fehlbildungs- und Entwicklungsstörung Syndrome 46, XY Geschlechtsumkehr 7 DHH Costello Syndrom HRAS Miller-Dieker-Lissenzephalie-S. 17p13.3 46, XY Geschlechtsumkehr 3 NR5A1 CRASH Syndrom L1CAM Opitz Syndrom GBBB I MID1 Branchio Syndrom Hypophysen-Hormon-Mangel HESX1 Rubinstein-Taybi Syndrom 1 CREBBP BOS1 EYA1 PIT1 Seckel Syndrom 4 CENPJ BOS2 SIX5 PROP1 Septooptische Dysplasie HESX1 BOS3 SIX1 LHX4 Silver-Russell Syndrom chrom. 7 C Syndrom CD96 Ivemark Syndrom GJA1 (Cx43) Silver-Russell Syndrom 11p15.5 Cardiofaciocutanes Syndrom Joubert Syndrom INPP5E Simpson-Golabi-Behmel Syndrom 1 GPC3 CFC BRAF Lissenzephalie Smith-Lemli-Opitz Syndrom DHCR7 CFC KRAS LIS1 PAFAH1B1 Smith-Magenis Syndrom RAI1 Cohen Syndrom COH1 LIS2 RELN Townes-Brocks Syndrom SALL1 Cornelia de Lange Syndrom LIS3 TUBA1A Treacher Collins Syndrom TCOF1 CDLS1 NIPBL LIS YWHAE Trichorhinophalangeal Syndrom I & II TRPS1 CDLS2 SMC1A LISX2 ARX CDLS3 SMC3 MASA Syndrom L1CAM CDLS4 UBE2A Meckel Syndrom 1 MKS1 Geschlechtsentwicklung und Fertiliät CBAVD CFTR Spermatogenese-Defekt AZF Müllerscher Gang Syndrom AHM Swyer Syndrom SRY Haut- & Zahnerkrankungen Albinismus Ektodermale Dysplasie Incontinentia pigmenti IKBKG oculokutaner Ia TYR anhidrotisch EDA Nichtanlage von Zähnen oculokutaner II OCA2 anhidrotisch NFKBIA selektiv 1 MSX1 Amelogenesis imperfecta hidrotisch GJB6 selektiv 3 Pax9 AI IC ENAM hypohidrotisch EDAR Odontoonychodermale Dysplasie WNT10A AI IIA1 KLK4 hypohidrotisch EDARADD Oligodontie-Darmkrebs Syndrom Axin2 Angioödem, hereditärer Typ I C1NH Ektrodaktylie,ED und Lippenspalte TP63 Osler-Weber-Krankheit ENG Dyschromatosis symm. hered. 1 ADAR Gutartiger chronischee Pemphigus ATP2C1 Teleangiektasie, hämorrhagisch 2 ALK1 Hämatologische Erkrankungen/Gerinnungsstörungen Bernard-Soulier Syndrom GP1BA Faktor-XI-Mangel F11 Sichelzellanämie HBB Bernard-Soulier Syndrom GP1BB Faktor-XII-Mangel F12 Sphärozytose 4 SLC4A1 Beta Thalassämie HBB Fechtner Syndrom MYH9 Thrombasthenie Glanzmann-Naegeli ITGB3 Faktor-II-Mangel F2 May-Hegglin-Anomalie MYH9 Thrombozytopenie WAS Faktor-V-Mangel F5 Neutropenie, schwere kongenitale WAS Faktor-VII-Mangel F7 PAI1-Magel PAI Faktor-X-Mangel F10 Sebastian Syndrom MYH9 MOLEKULARGENETISCHE DIAGNOSTIK Herzerkrankungen Danon Krankheit LAMP2 Long QT Syndrom Velocardialfaciales Syndrom 22q11.2 DiGeorge Syndrom 2q11.2 LQTS2 KCNH2 Emery-Dreifuss MD 2 / 3 LMNA LQTS5 KCNE1 Kardiomyopathie dilatativ 1A LMNA LQTS6 KCNE2 Immunologische & rheumatische Erkrankungen Afibrinogenämie, angeborene Angeborene Afibrinogenämie Hepatitis C-Virus-Infektion FGA FGA Ansprechen auf die Therapie IL28B FGB FGB Hyper-IgE Syndrom STAT3 FGG FGG Leukozytenadhäsionsdefizienz Typ 1 LAD1 Agammaglobulinämie, X-chr. BTK Hämophagozytische Lymphohistiozytose Mannose-bindendes Lektin-Mangel MBL2 Anfälligkeit für Asthma bronchiale HNMT FHL2 PRF1 FHL3 UNC13D FHL4 STX11 FHL5 STXBP2 Mentale Retardierung Angelman Syndrom 15q11-q13 Mowat-Wilson Syndrom ZFHX1B Prader-Willi Syndrom 15q11-q13 Angelman Syndrom UBE3A Noonan Syndrom Rett Syndrom MECP2 Cornelia de Lange Syndrom NS1 PTPN11 Rett-like Syndrom CDKL5 CDLS1 NIPBL NS3 KRAS Subtelomeres Screening CDLS2 SMC1A NS4 SOS1 Williams-Beuren Syndrom 7q11.2 CDLS3 SMC3 NS5 RAF1 XLMR CDLS4 UBE2A NS6 NRAS Christianson SlC9A6 DiGeorge Syndrom 22q11.2 NS7 BRAF Nascimento UBE2A Fragiles X Syndrom A FMR1 Partington Syndrom ARX Fragiles X Syndrom E FMR2 Pitt-Hopkins Syndrom TCF4 Lujan-Fryns Syndrom MED12 Polymikrogyrie, bilat. frontoparietal GPR54 Metabolische und endokrine Erkrankungen/Fettstoffwechsel Abetalipoproteinämie MTP Hämochromatose MTHFR-Mangel MTHFR Adrenogenitales Syndrom klassische HFE Mukopolysaccharidose CYP11B1 Typ 2 HAMP MPS I h/s IDUA CYP17A1 Typ 3 TFR2 MPS IIIB NAGLU CYP21A2 Typ 4 SLC40A1 MPS IVA GALNS HSD3B2 Hyperkalzämie, infantile Cyp24A1 Neuroferritinopathie FTL Ahornsirupkrankheit Hypercholesterinämie Niemann-Pick-Krankheit Ib BCKDHA familiäre LDLR NPC1 NPC1 Ia BCKDHB B APOB NPC2 NPC2 II DBT Hyperferritinämie-Katarakt Syndrom FTL Pankreatitis Alpha-1-Antitrypsin Defizienz PI Hyperornithinämie-Hyperammonämie SLC25A15 PRSS1 Amyloidose, viscerale Form LYZ Hyperoxalurie 1 AGXT SPINK1 Apolipoprotein E Mangel APOE Hyperparathyreoidismus CASR Porphyrie Carnitinpalmitoyltransferase I-Mangel CPT1A Hypoparathyreoidismus akut intermittierend HMBS Cerebrotendinöse Xanthomatose CYP27A1 GCM2 erythropoetische UROS Cholestase, progr. intrahep. Typ3 ABCB4 PTH Propionazidämie Crigler-Najjar Syndrom Typ I UGT1A1 Koproporphyrie CPOX PCCA Cystische Fibrose CFTR Laron Zwergwuchs GHR PCCB Cystinurie SLC3A1 Leukoenzephalopathie LBSL DARS2 Pseudohypoaldosteronismus I NR3C2 Danon Krankheit LAMP2 Lipodystrophie 2 LMNA Pyridoxamin-5'-Phosphat-Oxidase-Mangel PNPO Diabetes mellitus, permanent neonatal KCNJ11 Maligne Hyperthermie RYR1 Refsum Krankheit
Recommended publications
  • DIAGMOL Town, ZIPCODE :…………………………………………………… Director : Prof

    DIAGMOL Town, ZIPCODE :…………………………………………………… Director : Prof

    Mr. Mrs. (IN UPPER CASE, please) Name:……………………………………………………. Maiden Name:……………………………………. DMGL / Service de Médecine Génétique Centre d’accueil des prélèvements (CAP) First name :………………………………………………… Bâtiment des Laboratoires (BATLab), local 8D-0-850.1 Date of birth : ............ / ........... / …………… 4 rue Gabrielle-Perret-Gentil, 1211 Genève 14 Legal representative (for minors) : father mother Molecular and Genomic Diagnostics Laboratory Name/first name :…………………………………………… Street/N°:……………………………………………………… http://www.hug-ge.ch/feuilles-de-demande DIAGMOL Town, ZIPCODE :…………………………………………………… Director : Prof. Stylianos ANTONARAKIS Hospitalisation Unit: …………… Physician :…………………… Lab managers: N° EdS : …………………………………………………………… Dr J.-L. BLOUIN, Dr Th. NOUSPIKEL, Dr. M. GUIPPONI Invoice address: Patient Prescriptor Insurance [email protected], [email protected], [email protected] Type of case : Disease AI Accident Pregnancy Lab direct or results: Phone/FAX: +41 (0) 22 37 21 826 / 21 860 N° AVS (Mandatory for AI) : ………………………...................... Sample Entrance Center (CAP) : Phone +41 (0) 22 37 21 800 Insurance : ………………… Insured N° : ……………………… PHYSICIAN PHYSICIAN (NAME/First name - Street/N°- Town, ZIPCODE - Phone/FAX. IN UPPER CASES, PLEASE) COPY TO OTHER PHYSICIAN (NAME/First name - Street/N°- Town, ZIPCODE - Phone/FAX. IN UPPER CASES, PLEASE) « The laboratory is granted permission by the Physician/Patient to transmit copies of the report to other physicians» Opposition of the patient to the registration of this request results in the electronic patient record (DPI) of the HUG If the patient belongs to a family already known to the laboratory, please indicate index case NAME: CLINICAL INFORMATIONS given by the physician: Ethnic origins Father Mother Currently pregnant Date of last menses Number of weeks of amenorrhea SAMPLE(S) Most of our tests work from 4 ml of blood in EDTA (children <2 ans : 1 On every and single NAME First name ml : ok) or from purified DNA (some exceptions apply for some tests) tube.
  • Genes in Eyecare Geneseyedoc 3 W.M

    Genes in Eyecare Geneseyedoc 3 W.M

    Genes in Eyecare geneseyedoc 3 W.M. Lyle and T.D. Williams 15 Mar 04 This information has been gathered from several sources; however, the principal source is V. A. McKusick’s Mendelian Inheritance in Man on CD-ROM. Baltimore, Johns Hopkins University Press, 1998. Other sources include McKusick’s, Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders. Baltimore. Johns Hopkins University Press 1998 (12th edition). http://www.ncbi.nlm.nih.gov/Omim See also S.P.Daiger, L.S. Sullivan, and B.J.F. Rossiter Ret Net http://www.sph.uth.tmc.edu/Retnet disease.htm/. Also E.I. Traboulsi’s, Genetic Diseases of the Eye, New York, Oxford University Press, 1998. And Genetics in Primary Eyecare and Clinical Medicine by M.R. Seashore and R.S.Wappner, Appleton and Lange 1996. M. Ridley’s book Genome published in 2000 by Perennial provides additional information. Ridley estimates that we have 60,000 to 80,000 genes. See also R.M. Henig’s book The Monk in the Garden: The Lost and Found Genius of Gregor Mendel, published by Houghton Mifflin in 2001 which tells about the Father of Genetics. The 3rd edition of F. H. Roy’s book Ocular Syndromes and Systemic Diseases published by Lippincott Williams & Wilkins in 2002 facilitates differential diagnosis. Additional information is provided in D. Pavan-Langston’s Manual of Ocular Diagnosis and Therapy (5th edition) published by Lippincott Williams & Wilkins in 2002. M.A. Foote wrote Basic Human Genetics for Medical Writers in the AMWA Journal 2002;17:7-17. A compilation such as this might suggest that one gene = one disease.
  • Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulphonylurea-Sensitive Diabetes

    Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulphonylurea-Sensitive Diabetes

    Diabetes Care 1 Shivani Misra,1 Neelam Hassanali,2 Homozygous Hypomorphic Amanda J. Bennett,2 Agata Juszczak,2 Richard Caswell,3 Kevin Colclough,3 HNF1A Alleles Are a Novel Cause Jonathan Valabhji,4 Sian Ellard,3 of Young-Onset Diabetes and Nicholas S. Oliver,1,4 and Anna L. Gloyn2,5,6 Result in Sulphonylurea-Sensitive Diabetes https://doi.org/10.2337/dc19-1843 OBJECTIVE Heterozygous loss-of-function mutations in HNF1A cause maturity-onset diabetes of the young (MODY). Affected individuals can be treated with low-dose sulpho- nylureas. Individuals with homozygous HNF1A mutations causing MODY have not been reported. RESEARCH DESIGN AND METHODS We phenotyped a kindred with young-onset diabetes and performed molecular genetic testing, a mixed meal tolerance test, a sulphonylurea challenge, and in vitro assays to assess variant protein function. RESULTS A homozygous HNF1A variant (p.A251T) was identified in three insulin-treated 1 family members diagnosed with diabetes before 20 years of age. Those with the Diabetes, Endocrinology and Metabolism, Im- NOVEL COMMUNICATIONS IN DIABETES homozygous variant had low hs-CRP levels (0.2–0.8 mg/L), and those tested dem- perial College London, London, U.K. 2Oxford Centre for Diabetes, Endocrinology and onstrated sensitivity to sulphonylurea given at a low dose, completely transitioning off Metabolism, University of Oxford, Oxford, U.K. insulin. In silico modeling predicted a variant of unknown significance; however, in vitro 3Institute of Biomedical and Clinical Science, Uni- studies supported a modest reduction in transactivation potential (79% of that for the versity of Exeter Medical School, Exeter, U.K.
  • Jeffrey Kleinberger Ph.D. Candidate Molecular Medicine Program, Genome Biology Track Graduate Program in Life Sciences, University of Maryland, Baltimore

    Jeffrey Kleinberger Ph.D. Candidate Molecular Medicine Program, Genome Biology Track Graduate Program in Life Sciences, University of Maryland, Baltimore

    Discovery and Analysis of Patients with Monogenic Diabetes in Multiple Cohorts to Guide Future Diagnosis Item Type dissertation Authors Kleinberger, Jeffrey Publication Date 2017 Abstract Monogenic diabetes is hyperglycemia caused by a variant in a single gene, and it accounts for approximately 1-2% of all diabetes cases. A genetic diagnosis of monogenic diabetes is important because the most common gene etiologies can be effectively ... Keywords MODY; monogenic diabetes; screening; Clinical Trial; Diabetes Mellitus, Type 2; Zebrafish Download date 05/10/2021 09:00:42 Link to Item http://hdl.handle.net/10713/7072 Jeffrey Kleinberger Ph.D. Candidate Molecular Medicine Program, Genome Biology Track Graduate Program in Life Sciences, University of Maryland, Baltimore Contact Information Medical School Teaching Facility 357 685 West Baltimore St. Baltimore, MD 21201 [email protected] Education Juniata College Huntingdon, PA August 2004 – May 2008 Cum Laude distinction (GPA: 3.701) Biochemistry major Coursework included: Organic Chemistry, Bioinorganic Chemistry, Analytical Chemistry, Physical Chemistry, Chemistry Research, Biology, Cell Biology, Genetics, Biostatistics, Molecular Techniques, Physiology, Microbiology, Biochemistry and Molecular Biology (I-III), Calculus (I&II), Physics (I&II), Scientific Glassblowing, College Writing Seminar, Art of Public Speaking, Intro to Psychology, Learning & Conditioning, Mod. Knowledge & The Self, United States to 1877, The American Revolution, Survey of Western Art, Modern Architecture,
  • 一般演題（口演）/Oral Sessions

    一般演題（口演）/Oral Sessions

    一般演題（口演）!Oral Sessions ご ! 案 第 60 回大会賞候補セッション（口演） Oral Presentation Award Session 内 日 時：10 月 16 日（金）11：25～12：20 第 2 会場（南館 4 階 錦） 座 長：稲澤 譲治（東京医科歯科大学難治疾患研究所ゲノム応用医学研究部門（分子細胞遺伝）） 田中 敏博（東京医科歯科大学疾患バイオリソースセンター） Date：Oct. 16 （Fri.） 11：25～12：20 Room 2（Nishiki, South Tower 4F） Chairs：Johji Inazawa（Tokyo Medical and Dental University） Toshihiro Tanaka（Tokyo Medical and Dental University） プ ロ BO-1 ゲノムワイド関連解析（GWAS）データを活用した in silico 解析による新規抗パーキンソン病薬 グ の探索 ラ In silico drug discovery for Parkinson’s disease by using genome!wide association study ム （GWAS）data ○上中 健 1（Takeshi Uenaka）、佐竹 渉 1（Wataru Satake）、謝 珮琴 1（Pei"Chieng Cha）、 岡田 随象 2（Yukinori Okada）、戸田 達史 1（Tatsushi Toda） 1 神戸大学大学院医学研究科神経内科!分子脳科学 指 （Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Japan） 定 2 東京医科歯科大学大学院医歯学総合研究科疾患多様性遺伝学分野 演 （Department of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, 題 Tokyo Medical and Dental University, Tokyo, Japan） 抄 録 BO-2 MIRAGE 症候群：機能亢進型 SAMD9 変異を原因とする新規症候群の発見 MIRAGE syndrome：New genetic syndrome caused by activating SAMD9 mutations ○鳴海 覚志 1（Satoshi Narumi）、天野 直子 1（Naoko Amano）、石井 智弘 1（Tomohiro Ishii）、 一 勝又 規行 2（Noriyuki Katsumata）、福澤 龍二 3（Ryuji Fukuzawa）、芝田 晋介 4（Shinsuke Shibata）、 般 4 5 6 演 岡野 栄之 （Hideyuki Okano）、清水 厚志 （Atsushi Shimizu）、三宅 紀子 （Noriko Miyake）、 題 松本 直通 6（Naomichi Matsumoto）、長谷川 奉延 1（Tomonobu Hasegawa） （ 1 慶應義塾大学医学部小児科 口 （Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan） 演 ） 2 国立成育医療研究センター研究所分子内分泌研究部 抄 （Department of Molecular Endocrinology, National Research
  • UNSCEAR 2001 Report to the General Assembly, with Scientific Annex

    UNSCEAR 2001 Report to the General Assembly, with Scientific Annex

    HEREDITARY EFFECTS OF RADIATION United Nations Scientific Committee on the Effects of Atomic Radiation UNSCEAR 2001 Report to the General Assembly, with Scientific Annex UNITED NATIONS HEREDITARY EFFECTS OF RADIATION United Nations Scientific Committee on the Effects of Atomic Radiation UNSCEAR 2001 Report to the General Assembly, with Scientific Annex UNITED NATIONS New York, 2001 NOTE The report of the Committee without its scientific annex appears as Official Records of the General Assembly. Fifty-sixth Session, Supplement No. 46 (N56146). The designation employed and the presentation of material in this publication do not imply the expression of any opinion whatsoever on the pad of the Secretariat of the United Nationsconcerning the legal status of any country, temtory, city orarea, or of its authorities, or concerning the delimitation of its frontiers or boundaries. The country names used in this document are, In most cases, those that were in use at the time the data were collected or the text prepared. In othercases, however, the names have been updated, where this was posslble and appropriate, to reflect political changes. UNITED NATIONS PUBLICATION Sales No. E.O1 .IX.2 ISBN 92-1-1 42244-2 Report of the United Nations Scientific Committee on the Effects of Atomic Radiation to the General Assembly 1. During the past few years, the United Nations 4. The Committee wishes to acknowledge the assistance Scientific Committee on the Effects of Atomic Radiation1 of the consultant, K. Sankaranarayanan, in the preparation has undertaken broad reviews of the sources and effects of of the scientific annex and the advice of the international ionizing radiation.
  • Uncommon Forms of Diabetes

    Uncommon Forms of Diabetes

    Clinical Medicine 2021 Vol 21, No 4: e337–41 CME: DIABETES Uncommon forms of diabetes Authors: Yun-Ni LeeA and Mohammed SB HudaB Diabetes mellitus is a common condition which all clinicians and insulin independence. It is estimated to account for 1%–2% will encounter in their clinical practice. The most common of patients diagnosed with diabetes and, in the UK, the prevalence form is type 2 diabetes followed by type 1 diabetes. However, of MODY is estimated to be at 108 cases per million.3 However, there are many other atypical forms of diabetes which are it may be a significant underestimate and these figures are not important for a clinician to consider as it can impact on the accurate until large population screening studies are performed. ABSTRACT diagnosis and their management. The most common mutations are hepatocyte nuclear factor-1- This article focuses on maturity onset diabetes of the young alpha (HNF1α; 52%), glucokinase (GCK; 32%) and HNF4α (10%), (MODY), latent autoimmune diabetes in adults (LADA), see Table 2.3 ketosis-prone diabetes and other secondary forms of diabetes such as pancreatic cancer and haemochromatosis. We briefly Hepatocyte nuclear factor-1-alpha gene describe the key clinical features of these forms of diabetes and their investigations and treatment. Formerly called MODY3, mutations on the HNF1α gene on chromosome 3 are associated with a progressive defect of insulin secretion.4 Mutations here also result in low renal threshold for 5 Introduction glucose and thus mutation carriers have detectable glycosuria. In the UK, around 90% of people with diabetes have type 2 diabetes (T2D), around 8% have type 1 diabetes (T1D) and around 2% have other forms of diabetes.1 Key points Typically, we see T1D present in a young, lean patient with Suspect other uncommon forms of diabetes if the clinical marked symptoms of polyuria, polydipsia, weight loss and diabetic picture does not fit type 1 or type 2 diabetes.
  • Two MODY 2 Families Identified in Brazilian Subjects

    Two MODY 2 Families Identified in Brazilian Subjects

    case report Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects Hiperglicemia incidental em crianças: duas famílias com MODY 2 identificadas em brasileiros Lílian A. Caetano1,2, Alexander A. L. Jorge1, Alexsandra C. Malaquias1, Ericka B. Trarbach1, Márcia S. Queiroz2, Márcia Nery2, Milena G. Teles1,2 SUMMARY Maturity-onset diabetes of the young (MODY) is characterized by an autosomal dominant mode 1 Unidade de Endocrinologia of inheritance, early onset of hyperglycemia, and defects of insulin secretion. MODY subtypes Genética e Laboratório de described present genetic, metabolic, and clinical differences. MODY 2 is characterized by mild Endocrinologia Molecular e Celular/LIM25, Disciplina de asymptomatic fasting hyperglycemia, and rarely requires pharmacological treatment. Hence, Endocrinologia, Faculdade precise diagnosis of MODY is important for determining management and prognosis. We report de Medicina da Universidade two heterozygous GCK mutations identified during the investigation of short stature. Case 1: a de São Paulo (FMUSP), São Paulo, SP, Brazil prepubertal 14-year-old boy was evaluated for constitutional delay of growth and puberty. During 2 Unidade de Diabetes, follow-up, he showed abnormal fasting glucose (113 mg/dL), increased level of HbA1c (6.6%), and Hospital das Clínicas, FMUSP, negative β-cell antibodies. His father and two siblings also had slightly elevated blood glucose le- São Paulo, SP, Brazil vels. The mother had normal glycemia. A GCK heterozygous missense mutation, p.Arg191Trp, was identified in the proband. Eighteen family members were screened for this mutation, and 11 had the mutation in heterozygous state. Case 2: a 4-year-old boy investigated for short stature revealed no other laboratorial alterations than elevated glycemia (118 mg/dL); β-cell antibodies were nega- tive.
  • Mat Kadi Tora Tutti O Al Ut Hit Hitta Atuh

    Mat Kadi Tora Tutti O Al Ut Hit Hitta Atuh

    MAT KADI TORA TUTTI USO AL20180235194A1 UT HIT HITTA ATUH ( 19) United States (12 ) Patent Application Publication ( 10) Pub . No. : US 2018 /0235194 A1 Fahrenkrug et al. (43 ) Pub . Date : Aug . 23, 2018 ( 54 ) MULTIPLEX GENE EDITING Publication Classification (51 ) Int. Ci. ( 71 ) Applicant: Recombinetics , Inc ., Saint Paul, MN A01K 67/ 027 (2006 . 01 ) (US ) C12N 15 / 90 ( 2006 .01 ) (72 ) Inventors : Scott C . Fahrenkrug, Minneapolis , (52 ) U . S . CI. MN (US ) ; Daniel F . Carlson , CPC .. .. A01K 67 / 0276 (2013 . 01 ) ; C12N 15 / 907 Woodbury , MN (US ) ( 2013 .01 ) ; A01K 67 /0275 ( 2013 .01 ) ; A01K 2267/ 02 (2013 .01 ) ; AOIK 2217 / 15 (2013 .01 ) ; AOIK 2227 / 108 ( 2013 .01 ) ; AOIK 2217 /07 (21 ) Appl. No. : 15 /923 , 951 ( 2013 .01 ) ; A01K 2227/ 101 (2013 .01 ) ; AOIK ( 22 ) Filed : Mar. 16 , 2018 2217 /075 ( 2013 .01 ) (57 ) ABSTRACT Related U . S . Application Data Materials and methods for making multiplex gene edits in (62 ) Division of application No . 14 /698 ,561 , filed on Apr. cells and are presented . Further methods include animals 28 , 2015, now abandoned . and methods of making the same . Methods of making ( 60 ) Provisional application No . 61/ 985, 327, filed on Apr. chimeric animals are presented , as well as chimeric animals . 28 , 2014 . Specification includes a Sequence Listing . Patent Application Publication Aug . 23 , 2018 Sheet 1 of 13 US 2018 / 0235194 A1 GENERATION OF HOMOZYGOUS CATTLE EDITED AT ONE ALLELE USING SINGLE EDITS Edit allele , Raise FO to Mate FO enough times Raise F1s to Mate F1 siblings Clone cell , sexual maturity , to produce enough F1 sexualmaturity , to make Implant, Gestate 2 years generation carrying 2 years homozygous KO , 9 months , birth edited allele to mate 9 months of FO with each other Generation Primary Fibroblasts ? ? ? Time, years FIG .
  • Beyond Type 1 and Type 2 Diabetes; Why Correct Diabetes Classification Is Important Gabriel I. Uwaifo, MD Dept of Endocrinology

    Beyond Type 1 and Type 2 Diabetes; Why Correct Diabetes Classification Is Important Gabriel I. Uwaifo, MD Dept of Endocrinology

    Beyond Type 1 and Type 2 Diabetes; Why Correct Diabetes Classification is Important Gabriel I. Uwaifo, MD, FACP, FTOS, FACE. Dept of Endocrinology, Diabetes, Metabolism and Weight Management, Ochsner Medical Center Objectives To highlight various classification methods of diabetes To highlight the importance and consequences of appropriate diabetes classification To provide suggested processes for diabetes classification in primary care settings and indices for specialty referral Presentation outline 1. Case presentations 2. Diabetes classification; past present and future 3. Diabetes classification; why is it important? 4. Suggested schemas for diabetes classification 5. Case presentation conclusions 6. Summary points and conclusions 3 Demonstrative cases Patient DL is a 56 yr old AA gentleman with a BMI of 24 referred for management of his “type 2 diabetes”. He is on basal bolus insulin with current HBA1c of 8.3. His greatest concern is on account of recent onset progressive neurologic symptoms and gaite unsteadiness Patient CY is a 21 yr old Caucasian lady with BMI of 28 and strong family history of diabetes referred for management of her “type 2 diabetes”. She is unsure if she even has diabetes as she indicates most of the SMBGs are under 160 and her current HBA1 is 6.4 on low dose metformin. Patient DR is a 54 yr old Asian lady with BMI of 36 and long standing “type 2 diabetes”. She has been referred because of poor diabetes control on multiple oral antidiabetics and persistent severe hypertriglyceridemia. Questions; Do all
  • Endocrine Genetic Test List

    Endocrine Genetic Test List

    Endocrine Genetic Test List Associated conditions Test No. Test Name Genes Included and phenotypes Bone HPP, X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, XLH, Hypophosphatemic Rickets, X-Linked Hypophosphatasia and Dominant Hypophosphatemic Rickets (XLHR), ALPL, CLCN5, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, PHEX, 630292 Hypophosphatemic Rickets X-Linked Rickets (XLR), Vitamin D-Resistant SLC34A3, VDR Panel Rickets, X-Linked Vitamin D-Resistant Rickets (VDRR), Hypophosphatemic Vitamin D-Resistant Rickets (HPDR), Phosphate Diabetes, Familial Hypophosphatemic Rickets BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, Osteogenesis Imperfecta 630543 MBTPS2, P3H1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, SPARC, OI, Juvenile Primary Osteoporosis Genetic Panel TENT5A, TMEM38B, WNT1 Cancer Familial Isolated Hyperparathyroidism, VistaSeq® Endocrine Cancer CDC73, MAX, MEN1, NF1, PRKAR1A, PTEN, RET, SDHB, SDHC, SDHD, 481374 Multiple Endocrine Neoplasia, Paraganglioma, Panel* TMEM127, TP53 and VHL Parathyroid Cancer, Pheochromocytoma Diabetes and Insulin Maturity-Onset Diabetes of the 630568 GCK, HNF1A, HNF1B, HNF4A Young (MODY) 4-gene Panel Maturity-Onset Diabetes of ABCC8, APPL1, BLK, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, 630513 the Young (MODY) Expanded KLF11, NEUROD1, PAX4, PDX1 Genetic Panel Congenital Hyperinsulinism ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, KCNJ11, PGM1, PMM2, 630500 Hypoglycemia Genetic Panel SLC16A1, UCP2 Growth and Development Combined Pituitary Hormone GLI1, HESX1, LHX3, LHX4, OTX2, POU1F1, PROKR2, PROP1,
  • An Interesting Case of Young Onset Diabetes Mellitus

    An Interesting Case of Young Onset Diabetes Mellitus

    International Journal of Research in Medical Sciences Gulati S et al. Int J Res Med Sci. 2017 Sep;5(9):4178-4180 www.msjonline.org pISSN 2320-6071 | eISSN 2320-6012 DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20174007 Case Report An interesting case of young onset diabetes mellitus Shipra Gulati*, Tanvi Batra, Akshay A. Dhamne, Vijayashree S. Gokhale Department of Medicine, Dr. DY Patil Medical College and Hospital, Pimpri, Pune, Maharashtra, India Received: 23 June 2017 Accepted: 22 July 2017 *Correspondence: Dr. Shipra Gulati, E-mail: [email protected] Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ABSTRACT A 24 years old female, was admitted with symptoms of urinary tract infection. She was married and had bad obstetric history. She was known diabetic for 16 years of age and was on regular treatment with injection human insulin mixtard since the time of diagnosis, but had no episode of diabetic ketosis/ ketoacidosis. She had a positive family history of diabetes. She was further evaluated and was found to have normal C peptide levels and islet cell antibodies were found to be negative. Hence, the possibility of MODY (monogenic diabetes) was considered. Her genetic testing could not be done due to financial constraints. But a trial of sulfonylureas was given along with reduction in the dose of insulin to which she responded well and is presently well controlled.