Weight Gain During Pregnancy: Reexamining the Guidelines
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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
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. -
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 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 . -
BY Aaron J. Gottschalk
BIOCHEMICAL AND DEVELOPMENTAL CHARACTERIZATION OF A SNF2-LIKE ATPASE AMPLIFIED IN LIVER CANCER 1 (ALC1) BY Aaron J. Gottschalk Submitted to the graduate degree program in Biochemistry and Molecular Biology and the Graduate faculty of the University of Kansas Medical Center in partial fulfillment for the degree of Doctor of Philosophy. _______________________ Chairperson Committee members* _______________________* _______________________* _______________________* _______________________* Date defended: ________________ The Dissertation Committee for Aaron J. Gottschalk certifies that this is the approved version of the following dissertation: BIOCHEMICAL AND DEVELOPMENTAL CHARACTERIZATION OF A SNF2-LIKE ATPASE AMPLIFIED IN LIVER CANCER 1 (ALC1) Committee: _______________________ Chairperson* _______________________ _______________________ _______________________ _______________________ Date defended: ________________ 2 ACKNOWLEDGEMENTS First and foremost, I would like to express my deepest thanks and gratitude to my mentors Joan and Ron Conaway. During my tenure in their lab as a graduate student I have been afforded an amazing opportunity to learn and grow as a scientist while independently developing this project. It is their extreme kindness, steadfast encouragement, guidance, and humor that have made even the toughest of problems both scientific and in life seem very surmountable, and for that I thank them profoundly. Next, I would like to thank my committee members Drs. Glen Andrews, Jennifer Gerton, Leslie Heckert, and Ken Peterson for all their useful advice and suggestions throughout the course of my graduate career. Not only did my committee members provide great scientific direction but they also made bi-annual meetings fun and engaging. I would like to thank all of the members of the Conaway Lab including: Charles Banks, Margaret Banks, Yong Cai, Jingji Jin, Stephanie Kong, Nawel Mahrour, Ana Pedraza, Chieri Sato, Shigeo Sato, Henrietta Szutorisz, Hide Takahashi, Tingting Yao, Dotan Sela, Lu Chen, and Merry McClaird. -
PMC5805680.Pdf
ARTICLE DOI: 10.1038/s41467-018-02942-5 OPEN Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer Alison P. Klein et al.# In 2020, 146,063 deaths due to pancreatic cancer are estimated to occur in Europe and the United States combined. To identify common susceptibility alleles, we performed the largest pancreatic cancer GWAS to date, including 9040 patients and 12,496 controls of European 1234567890():,; ancestry from the Pancreatic Cancer Cohort Consortium (PanScan) and the Pancreatic Cancer Case-Control Consortium (PanC4). Here, we find significant evidence of a novel association at rs78417682 (7p12/TNS3, P = 4.35 × 10−8). Replication of 10 promising signals in up to 2737 patients and 4752 controls from the PANcreatic Disease ReseArch (PAN- DoRA) consortium yields new genome-wide significant loci: rs13303010 at 1p36.33 (NOC2L, P = 8.36 × 10−14), rs2941471 at 8q21.11 (HNF4G, P = 6.60 × 10−10), rs4795218 at 17q12 (HNF1B, P = 1.32 × 10−8), and rs1517037 at 18q21.32 (GRP, P = 3.28 × 10−8). rs78417682 is not statistically significantly associated with pancreatic cancer in PANDoRA. Expression quan- titative trait locus analysis in three independent pancreatic data sets provides molecular support of NOC2L as a pancreatic cancer susceptibility gene. Correspondence and requests for materials should be addressed to A.P.K. (email: [email protected]) or to L.T.A. (email: [email protected]) #A full list of authors and their affliations appears at the end of the paper. NATURE COMMUNICATIONS | (2018) 9:556 | DOI: -
Of Analyses January 2019 Imprint
Index of Analyses January 2019 Imprint We reserve the right for errors and alterations. Our laboratory is part of the SYNLAB group. © 3rd edition By SYNLAB Medizinisches Versorgungszentrum Humane Genetik Medical Practice and Laboratory for Human genetics 2 Medical Director Dr. med. Dr. rer. nat. Claudia Nevinny-Stickel-Hinzpeter Consultant Human geneticist Postal Address Lindwurmstrasse 23 D-80337 Munich / Germany Telephone and Fax Reception +49 (0)89. 54 86 29 -0 Invoicing -0 Fax -243 Molecular Genetics -554 Cytogenetics -559 Office hours Monday – Friday 8.30 – 18.00 [email protected] www.humane-genetik.de 3 Table of contents Preanalytics 5 Molecular genetic analyses 8 Cardiac diseases 8 Complex syndromes 13 Connective Tissue Disorders 23 Endocrinology 26 Eye diseases 29 Fertility disorders 30 Gastrointestinal diseases 32 Hematology 33 Hemophilia 35 Hereditary cancer syndromes 36 Immune disorders 44 Intersexuality 45 Kidney diseases 46 Liver diseases 48 Lung diseases 50 Metabolic diseases 51 Mitochondrial diseases 61 Neurodegenerative diseases 64 Neuromuscular diseases /Neuropathies 69 Nutrigenetics 74 Pancreatic diseases 75 Periodic fever 76 Pharmacogenetics 80 Short stature 82 Thrombophilia/Atherosclerosis 84 Uniparental disomies 90 Kinship Analyses 91 Cytogenetics and molecular cytogenetics 92 Prenatal chromosome diagnostics 92 Postnatal chromosome diagnostics 94 Molecular cytogenetics 96 Chromosomal microarray diagnostics 99 Quality assurance 100 Index 104 Index gene names 116 4 Preanalytics Testing Material For genetic testing nuclei-containing cells of the patient are required, which are either cultivated or subjected to DNA extraction. Cells can be harvested from peripheral blood, buccal swabs, amniotic fluid, chorionic villi (CVS), or tissue samples. In case of blood collection, no special preparation of the patient, e.g. -
At the Staff Meeting of the Department of Pediatrics №4
Ministry of Health of Ukraine Bogomolets National Medical University “APPROVED” At the staff meeting of the Department of pediatrics №4 Chief of the Department of Pediatrics №4 Academician, Professor, MD, PhD Maidannyk V.G. __________________________(Signature) “_____” ___________________ 2020 y. Methodological recommendations for students Subject Pediatrics, Children’s infectious diseases. Module 1 Pediatrics Topic Thyroid gland diseases in children. Course 5 Faculty Medical №2 Kyiv -2020 1 AUTHORSHIP Head of the Department - Doctor of Medical Sciences, MD, PhD, Academician of the NAMS of Ukraine Professor V.G. Maidannyk; MD, PhD, Associate Professor Ie.A. Burlaka; MD, PhD, Associate Professor R.V. Terletskiy; MD, PhD, Associate Professor O.S. Kachalova O.S.; MD, PhD Assistant T.D. Klets; MD, PhD Assistant T.A. Shevchenko. Topic: Thyroid gland diseases in children. Classification of thyroid diseases in children. Etiology, pathogenesis, clinical presentation, diagnostics, differential diagnostics, treatment, prophylaxis of diffuse toxic goiter, hypothyroidism, autoimmune thyroiditis, Prognosis. І. Topic Relevance. Thyroid functions disturbances is the common state among children. Thyroid diseases is quite various in children age. Thyroid diseases problems are the main relating to Chernobyl disaster because of morbidity increasing among children in autoimmune thyroiditis, hypothyroidism, good- quality and malignant tumors of thyroid. One of major places occupies congenital hypothyroidism that meets in frequency of 1 case to 5000 newborns. Congenital hypothyroidism in 85 – 90% of cases is primary and related to the iodine deficit or thyroid dysgenesis. Thus, the aplasia, hypogenesis or dystopia of thyroid are the more frequent states. Primary hypothyroidism in 5 – 10% of cases unconditioned by dyshormonose (autosomal – recessive inheritance). -
(12) Patent Application Publication (10) Pub. No.: US 2016/0186168 A1 Konieczka Et Al
US 2016O1861 68A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2016/0186168 A1 Konieczka et al. (43) Pub. Date: Jun. 30, 2016 (54) PROCESSES AND HOST CELLS FOR Related U.S. Application Data GENOME, PATHWAY. AND BIOMOLECULAR (60) Provisional application No. 61/938,933, filed on Feb. ENGINEERING 12, 2014, provisional application No. 61/935,265, - - - filed on Feb. 3, 2014, provisional application No. (71) Applicant: ENEVOLV, INC., Cambridge, MA (US) 61/883,131, filed on Sep. 26, 2013, provisional appli (72) Inventors: Jay H. Konieczka, Cambridge, MA cation No. 61/861,805, filed on Aug. 2, 2013. (US); James E. Spoonamore, Publication Classification Cambridge, MA (US); Ilan N. Wapinski, Cambridge, MA (US); (51) Int. Cl. Farren J. Isaacs, Cambridge, MA (US); CI2N 5/10 (2006.01) Gregory B. Foley, Cambridge, MA (US) CI2N 15/70 (2006.01) CI2N 5/8 (2006.01) (21) Appl. No.: 14/909, 184 (52) U.S. Cl. 1-1. CPC ............ CI2N 15/1082 (2013.01); C12N 15/81 (22) PCT Filed: Aug. 4, 2014 (2013.01); C12N 15/70 (2013.01) (86). PCT No.: PCT/US1.4/49649 (57) ABSTRACT S371 (c)(1), The present disclosure provides compositions and methods (2) Date: Feb. 1, 2016 for genomic engineering. Patent Application Publication Jun. 30, 2016 Sheet 1 of 4 US 2016/O186168 A1 Patent Application Publication Jun. 30, 2016 Sheet 2 of 4 US 2016/O186168 A1 &&&&3&&3&&**??*,º**)..,.: ××××××××××××××××××××-************************** Patent Application Publication Jun. 30, 2016 Sheet 3 of 4 US 2016/O186168 A1 No.vaegwzºkgwaewaeg Patent Application Publication Jun. 30, 2016 Sheet 4 of 4 US 2016/O186168 A1 US 2016/01 86168 A1 Jun. -
Endocrine Test Selection and Interpretation
The Quest Diagnostics Manual Endocrinology Test Selection and Interpretation Fourth Edition The Quest Diagnostics Manual Endocrinology Test Selection and Interpretation Fourth Edition Edited by: Delbert A. Fisher, MD Senior Science Officer Quest Diagnostics Nichols Institute Professor Emeritus, Pediatrics and Medicine UCLA School of Medicine Consulting Editors: Wael Salameh, MD, FACP Medical Director, Endocrinology/Metabolism Quest Diagnostics Nichols Institute San Juan Capistrano, CA Associate Clinical Professor of Medicine, David Geffen School of Medicine at UCLA Richard W. Furlanetto, MD, PhD Medical Director, Endocrinology/Metabolism Quest Diagnostics Nichols Institute Chantilly, VA ©2007 Quest Diagnostics Incorporated. All rights reserved. Fourth Edition Printed in the United States of America Quest, Quest Diagnostics, the associated logo, Nichols Institute, and all associated Quest Diagnostics marks are the trademarks of Quest Diagnostics. All third party marks − ®' and ™' − are the property of their respective owners. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopy, recording, and information storage and retrieval system, without permission in writing from the publisher. Address inquiries to the Medical Information Department, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690-6130. Previous editions copyrighted in 1996, 1998, and 2004. Re-order # IG1984 Forward Quest Diagnostics Nichols Institute has been -
Human Genetics (A-D)
Patient’s Name Date of Birth Human Genetics Labor Lademannbogen MVZ GmbH Professor-Rüdiger- Arndt-Haus Tel.: (040) 53805 800 Address Lademannbogen 61-63 Fax: (040) 53805 821 22339 Hamburg www.labor-lademannbogen.de Country - Doctor’s practice stamp - Human Genetics (A-D) Sampling date__________________________________________________________________________________ 1p36 deletion syndrome Hep CADASIL (NOTCH3) E 3-beta-HSD deficiency (HSD3B2) E Cardiomyopathy, dilatative E 5-fluorouracil toxicity (DPD deficiency) E Cardiomyopathy, hypertrophic E Aarskog syndrome (Faciogenital dysplasia) E Cardiomyopathy, long-QT E Aceruloplasminemia E Cardiomyopathy, others E Achondroplasia E Carnitine palmitoyltransferase II deficiency E Adiposity, Leptin E Cataract (EPHA2, GALK) E Adiposity, Leptin Receptor E CDG syndrome, CDG 1a (PMM2) E Adiposity, Melanocortin 4 Receptor E CDG syndrome, CDG 1b (MPI) E Adiposity, Proopiomelanocortin E CDG syndrome, CDG 1c (ALG6) E Adiposity, Proproteinconvertase E CDG syndrome, CDG 2c (SLC35C1) E Agammaglobulinemia, X-linked (BTK) E Cholestasis, intrahepatic, benign recurrent (BRIC) E Aicardi-Goutières syndrome E Cholestasis, intrahepatic, of pregnancy (ICP) E AIRE (APECED) E Cholestasis, intrahepatic, progressive familial (PFIC) E Alagille syndrome (JAG1) E Chromosomal diagnosis of leukemia and lymphoma BM etc. Albright osteodystrophy (GNAS1) E Chromosomal diagnosis of spontaneous abortions CVS Alpers syndrome (POLG1) E Chromosomal diagnosis, postnatal Hep Alpha 1 antitrypsin genotyping -
Neonatal Diabetes and MODY Information Sheet 6-14-19
Next Generation Sequencing Panels for Neonatal Diabetes Mellitus (NDM) and Maturity-Onset Diabetes of the Young (MODY) Monogenic diabetes mellitus includes a heterogeneous group of diabetes types that are caused by mutations in single genes. It is estimated that the monogenic forms of diabetes could represent as much as 1–2% of all cases of diabetes mellitus 1. The main phenotypes suggestive of an underlying monogenic cause include neonatal diabetes mellitus (NDM), maturity-onset diabetes of the young (MODY) and very rare diabetes-associated syndromes. Neonatal Diabetes Mellitus (NDM) is diabetes diagnosed within the first 6 months of life and can be characterized as either permanent (PNDM), requiring lifelong treatment, or transient (TNDM), which typically resolves by 18 months of age. NDM is rare with an incidence of approximately 1:1,000,000-260,000 live births. Maturity-onset diabetes of the young (MODY) is more common than NDM and usually occurs in children or adolescents but may be mild and not detected until adulthood. It is predicted that MODY accounts for approximately 1-2% of all Diabetes cases with an incidence of approximately 100 cases per million in the UK population. Approximately thirty genes that are highly expressed in the pancreatic beta-cell have been identified in these monogenic subtypes of diabetes, and many other genes have been implicated in syndromes that often include diabetes. Several etiological mechanisms of beta-cell dysfunction are involved including reduced beta-cell number, failure of glucose sensing and increased destruction of the beta-cell, which result in inadequate insulin secretion despite chronic hyperglycemia 2-4.