Bruce H. Cohen, MD Page 1 of 56
Total Page：16
File Type：pdf, Size：1020Kb
Load more
Recommended publications
-
Disease Reference Book
The Counsyl Foresight™ Carrier Screen 180 Kimball Way | South San Francisco, CA 94080 www.counsyl.com | [email protected] | (888) COUNSYL The Counsyl Foresight Carrier Screen - Disease Reference Book 11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia .................................................................................................................................................................................... 8 21-hydroxylase-deficient Congenital Adrenal Hyperplasia ...........................................................................................................................................................................................10 6-pyruvoyl-tetrahydropterin Synthase Deficiency ..........................................................................................................................................................................................................12 ABCC8-related Hyperinsulinism........................................................................................................................................................................................................................................ 14 Adenosine Deaminase Deficiency .................................................................................................................................................................................................................................... 16 Alpha Thalassemia............................................................................................................................................................................................................................................................. -
Of the Workshops “Current Trends in Biomedicine” (Baeza, Spain; 2004-2019; Editions: 16 / Workshops: 64)
INDEX OF TITLES AND ORGANIZERS (CHRONOLOGICAL ORDER) OF THE WORKSHOPS “CURRENT TRENDS IN BIOMEDICINE” (BAEZA, SPAIN; 2004-2019; EDITIONS: 16 / WORKSHOPS: 64) 2004: - “ORIGIN AND EVOLUTION OF HUMAN PATHOGENS” 20-23 OCTOBER 2004 Organizers: Josep Casadesús (Universidad de Sevilla. Sevilla, Spain) Eduardo A. Groisman (Washington University. St. Louis, USA) - “COUPLING BETWEEN TRANSCRIPTION AND RNA PROCESSING” 8-10 NOVEMBER 2004 Organizers: Miguel Beato (Centre de Regulació Genòmica (CRG). Barcelona, Spain) Frank Gannon (European Molecular Biology Laboratory (EMBL). Heidelberg, Germany) Juan Valcárcel (Centre de Regulació Genòmica (CRG). Barcelona, Spain) Editions 2005-2008 were organized jointly with the “Instituto de Salud Carlos III”: 2005: - “IMAGING SYNAPSES: FROM INDIVIDUAL MOLECULES TO BRAIN CIRCUITS” 2-5 OCTOBER 2005 Organizers: Rafael Fernández-Chacón (Universidad de Sevilla. Sevilla, Spain) Arthur Konnerth (Technical University Munich. Munich, Germany) Thomas C. Südhof (UT Southwestern Medical Center. Dallas, USA) - “CARDIOVASCULAR DEVELOPMENT: TOWARDS BIOMEDICAL APPLICABILITY” 23-26 OCTOBER 2005 Organizers: Marina Campione (University of Padua. Padua, Italy) Diego Franco (Universidad de Jaén. Jaén, Spain) Robert Kelly (University of Marseille. Marseille, France) - “EPIGENETIC MECHANISMS IN DEVELOPMENT AND DISEASE” 13-16 NOVEMBER 2005 Organizers: Adrian Bird (University of Edinburgh. Edinburgh, UK) José C. Reyes (Instituto de Bioquímica Vegetal y Fotosíntesis de Sevilla. Sevilla, Spain) Moshe Yaniv (Institute Pasteur. Paris, France) - “SYNAPTOPATHIES AND MENTAL DISORDERS” 11-14 DICIEMBRE 2005 Organizers: Guillermo Álvarez de Toledo (Universidad de Sevilla. Sevilla, Spain) Reinhard Jahn (Max Planck Institute for Biophysical Chemistry. Göttingen, Germany) 2006: - “RNA IN DISEASE AND THERAPY” 2-4 OCTOBER 2006 Organizers: Alfredo Berzal-Herranz (Instituto de Parasitología y Biomedicina "López-Neyra", CSIC. Granada, Spain) Bryan R. -
Pediatric Research Perspectives 2016 -2017
Pediatric Research Perspectives 2016 -2017 3-Dimensional Printing in Congenital Heart Disease p.8 Pediatric Research Perspectives 2016-2017 Inside 8 13 24 04 Adolescent Medicine: Effects of Treating Gender Dysphoria and Anorexia 21 Ophthalmology: Understanding the Prevalence of Systemic Disorders in Nervosa in Transgender Youths: Lessons Learned — Ellen S. Rome, MD, Patients with Unilateral Congenital Cataracts — Elias Traboulsi, MD MPH 22 Orthopaedics: New Postoperative Regimen Improves Patient Experience in 06 Behavioral Health: Hope for Pediatric Chronic Pain Through a Cost-Effective Pediatric Orthopaedic Surgery — Ryan C. Goodwin, MD Interdisciplinary Approach — Ethan Benore, PhD; Gerard Banez, PhD; and Jenny Evans, PhD 24 Pediatric Research: Antibiotic-Induced Clostridium Difficile Infection: Combating Bacteria with Bacteria — Gail Cresci, PhD, RD 08 Cover Story | Cardiology: 3-Dimensional Printing in Congenital Heart Disease — Patcharapong Suntharos, MD, and Hani Najm, MD 28 Psychiatry: Preventing Suicide in Youths — Tatiana Falcone, MD; Migle Staniskyte, BA; and Jane Timmons-Mitchell, PhD 10 Endocrinology: The Need for Culture-Appropriate Carb Counting for Children with Diabetes — Sumana Narasimhan, MD 30 Pulmonary Medicine: Nutrition in Pregnancy Affects Metabolic and Respiratory Outcomes in Offspring — Giovanni Piedimonte, MD 11 ENT: Examining the Cost of Imaging and Audiometric Testing for Pediatric Hearing Loss — Samantha Anne, MD, MS 32 Radiology: The Evolution of Radiology into a Remote Practice: Why Do Some Referring Providers Continue to Value Interaction? — Brooke Lampl, 12 Gastroenterology: Long-Term Follow-Up of Ileal Pouch Anal Anastomosis in DO, and Elaine Schulte, MD, MPH Pediatric and Young Adult Patients with Ulcerative Colitis — Marsha Kay, MD, and Tracy Hull, MD 34 Rheumatology: Associations Between Short-Term Pollution Exposures and Childhood Autoimmune Diseases — Andrew S. -
Neonatal Hemochromatosis: a Congenital Alloimmune Hepatitis
Reprinted with permission from Thieme Medical Publishers (Semin Liver Dis. 2007 Aug;27(3):243-250) Homepage at www.thieme.com Neonatal Hemochromatosis: A Congenital Alloimmune Hepatitis Peter F. Whitington, M.D.1 ABSTRACT Neonatal hemochromatosis (NH) is a rare and enigmatic disease that has been clinically defined as severe neonatal liver disease in association with extrahepatic siderosis. It recurs at an alarming rate in the offspring of certain women; the rate and pattern of recurrence led us to hypothesize that maternal alloimmunity is the likely cause at least of recurrent cases. This hypothesis led to a trial of gestational treatment to prevent the recurrence of severe NH, which has been highly successful adding strength to the alloimmune hypothesis. Laboratory proof of an alloimmune mechanism has been gained by reproducing the disease in a mouse model. NH should be suspected in any very sick newborn with evidence of liver disease and in cases of late intrauterine fetal demise. Given the pathology of the liver and the mechanism of liver injury, NH could best be classified as congenital alloimmune hepatitis. KEYWORDS: Neonatal hemochromatosis, acute liver failure, alloimmune disease, cirrhosis, hepatitis Neonatal hemochromatosis (NH) is clinically NH could best be classified as congenital alloimmune defined as severe neonatal liver disease in association hepatitis. with extrahepatic siderosis in a distribution similar to that seen in hereditary hemochromatosis.1–4 Consider- able evidence indicates that it is a gestational disease in ETIOLOGY AND PATHOGENESIS which fetal liver injury is the dominant feature. Because The name hemochromatosis implies that iron is involved of the abnormal accumulation of iron in liver and other in the pathogenesis of NH. -
GRACILE Syndrome, a Lethal Metabolic Disorder with Iron
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector Am. J. Hum. Genet. 71:863–876, 2002 GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L Ilona Visapa¨a¨,1,3 Vineta Fellman,7 Jouni Vesa,1 Ayan Dasvarma,8 Jenna L. Hutton,2 Vijay Kumar,5 Gregory S. Payne,2 Marja Makarow,5 Rudy Van Coster,9 Robert W. Taylor,10 Douglass M. Turnbull,10 Anu Suomalainen,6 and Leena Peltonen1,3,4 Departments of 1Human Genetics and 2Biological Chemistry, University of California Los Angeles School of Medicine, Los Angeles; 3Department of Molecular Medicine, National Public Health Institute, 4Department of Medical Genetics, 5Institute of Biotechnology, and 6Department of Neurology and Programme of Neurosciences, University of Helsinki, and 7Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki; 8Murdoch Children’s Research Institute, Melbourne, Australia; 9Department of Pediatrics, Ghent University Hospital, Ghent, Belgium; and 10Department of Neurology, University of Newcastle upon Tyne, Newcastle, United Kingdom GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. We previously localized the causative gene to a 1.5-cM region on chromosome 2q33-37. In the present study, we report the molecular defect causing this metabolic disorder, by identifying a homozygous missense mutation that results in an S78G amino acid change in the BCS1L gene in Finnish patients with GRACILE syndrome, as well as five different mutations in three British infants. -
D I V I S I O Ns, D E Pa R T M E N T S, I N S T I T U T Es, and Centers
section four D I V I S I O N S, D E PA R T M E N T S, I N S T I T U T E S, AND CENTERS 1 5 5 11. DIVISION OF MEDICINE BY MUZAFFAR AHMAD, CLAUDIA D’ARCANGELO, AND JOHN CLOUGH A good physician knows his patient through and through, and his knowledge is bought dearly. Time, sympathy, and understanding must be lavishly dispensed, but the reward is to be found in that personal bond, which forms the greatest satisfaction of medical practice. —A.C. Ernstene B E G I N N I N G S THE DIV I S I O N OF MED I C I N E HA S PL AY E D AN IM P O R TAN T RO L E IN TH E development of medical practice at The Cleveland Clinic since its opening in 1921. Dr. John Phillips, the only internist among the four founders, was the first chief of the Division of Medicine, then called the Medical Department. He was a true family physician who saw medicine begin to move away from house calls and toward an of fice-based practice during the eight years between 1921 and his untimely death in 1929 at age 50. Nevertheless, he continued to tr eat patients with diverse disorders and make house calls, often spending his entire weekend visiting patients in their homes. Despite his own inclination and experience, Phillips rec o g n i z e d the value of specialization. In 1921, he assigned Henry J. -
Mitochondrial Medicine 2019: Washington DC Scientific and Clinical Meetings June 26-29, 2019 Hilton Alexandria Mark Center Alexandria, VA
Mitochondrial Medicine 2019: Washington DC Scientific and Clinical Meetings June 26-29, 2019 Hilton Alexandria Mark Center Alexandria, VA 2019 Course Chairs: Amel Kara, MD and Carla Koehler, PhD 2019 CME Chair: Bruce H. Cohen, MD Mitochondrial Medicine 2019: Washington DC Scientific/Clinical Program June 26-29, 2019 Course Description The United Mitochondrial Disease Foundation and PeerPoint Medical Education Institute have joined efforts to sponsor and organize a CME-accredited symposium. Mitochondrial diseases are more common than previously recognized and mitochondrial pathophysiology is now a recognized part of many disease processes, including heart disease, cancer, AIDS and diabetes. There have been significant advances in the molecular genetics, proteomics, epidemiology and clinical aspects of mitochondrial pathophysiology. This conference is directed toward the scientist and clinician interested in all aspects of mitochondrial science. The content of this educational program was determined by rigorous assessment of educational needs and includes surveys, program feedback, expert faculty assessment, literature review, medical practice, chart review and new medical knowledge. The format will include didactic lectures from invited experts intermixed with peer-reviewed platform presentations. There will be ample time for professional discussion both in and out of the meeting room, and peer-reviewed poster presentations will be given throughout the meeting. This will be a four-day scientific meeting aimed at those with scientific and -
Human Mitochondrial Pathologies of the Respiratory Chain and ATP Synthase: Contributions from Studies of Saccharomyces Cerevisiae
life Review Human Mitochondrial Pathologies of the Respiratory Chain and ATP Synthase: Contributions from Studies of Saccharomyces cerevisiae Leticia V. R. Franco 1,2,* , Luca Bremner 1 and Mario H. Barros 2 1 Department of Biological Sciences, Columbia University, New York, NY 10027, USA; [email protected] 2 Department of Microbiology,Institute of Biomedical Sciences, Universidade de Sao Paulo, Sao Paulo 05508-900, Brazil; [email protected] * Correspondence: [email protected] Received: 27 October 2020; Accepted: 19 November 2020; Published: 23 November 2020 Abstract: The ease with which the unicellular yeast Saccharomyces cerevisiae can be manipulated genetically and biochemically has established this organism as a good model for the study of human mitochondrial diseases. The combined use of biochemical and molecular genetic tools has been instrumental in elucidating the functions of numerous yeast nuclear gene products with human homologs that affect a large number of metabolic and biological processes, including those housed in mitochondria. These include structural and catalytic subunits of enzymes and protein factors that impinge on the biogenesis of the respiratory chain. This article will review what is currently known about the genetics and clinical phenotypes of mitochondrial diseases of the respiratory chain and ATP synthase, with special emphasis on the contribution of information gained from pet mutants with mutations in nuclear genes that impair mitochondrial respiration. Our intent is to provide the yeast mitochondrial specialist with basic knowledge of human mitochondrial pathologies and the human specialist with information on how genes that directly and indirectly affect respiration were identified and characterized in yeast. Keywords: mitochondrial diseases; respiratory chain; yeast; Saccharomyces cerevisiae; pet mutants 1. -
Prenatal Comprehensive Requisition
BAYLOR GENETICS PHONE CONNECT 2450 HOLCOMBE BLVD. 1.800.411.4363 GRAND BLVD. RECEIVING DOCK FAX HOUSTON, TX 77021-2024 1.800.434.9850 PRENATAL COMPREHENSIVE REQUISITION PATIENT INFORMATION (COMPLETE ONE FORM FOR EACH PERSON TESTED) / / Fetus of: Patient Last Name Patient First Name MI Date of Birth (MM / DD / YYYY) / Biological /Sex Fetus of: Patient Last Name Patient First Name MI Date of Birth (MM / DD / YYYY) Address City State Zip Phone Patient discharged from Biological Sex: the hospital/facility: Female Male Unknown Accession # Hospital / Medical Record # Yes No Gender identity (if diff erent from above): REPORTING RECIPIENTS Ordering Physician Institution Name Email (Required for International Clients) Phone Fax ADDITIONAL RECIPIENTS Name Email Fax Name Email Fax PAYMENT (FILL OUT ONE OF THE OPTIONS BELOW) SELF PAYMENT Pay With Sample Bill To Patient INSTITUTIONAL BILLING Institution Name Institution Code Institution Contact Name Institution Phone Institution Contact Email INSURANCE REQUIRED ITEMS 1. Copy of the Front/Back of Insurance Card(s) 2. ICD10 Diagnosis Code(s) 3. Name of Ordering Physician 4. Insured Signature of Authorization / / / / Name of Insured Insured Date of Birth (MM / DD / YYYY) Name of Insured Insured Date of Birth (MM / DD / YYYY) Patient's Relationship to Insured Phone of Insured Patient's Relationship to Insured Phone of Insured Address of Insured Address of Insured City State Zip City State Zip Primary Insurance Co. Name Primary Insurance Co. Phone Secondary Insurance Co. Name Secondary Insurance Co. Phone Primary Member Policy # Primary Member Group # Secondary Member Policy # Secondary Member Group # By signing below, I hereby authorize Baylor Genetics to provide my insurance carrier any information necessary, including test results, for processing my insurance claim. -
SSIEM Classification of Inborn Errors of Metabolism 2011
SSIEM classification of Inborn Errors of Metabolism 2011 Disease group / disease ICD10 OMIM 1. Disorders of amino acid and peptide metabolism 1.1. Urea cycle disorders and inherited hyperammonaemias 1.1.1. Carbamoylphosphate synthetase I deficiency 237300 1.1.2. N-Acetylglutamate synthetase deficiency 237310 1.1.3. Ornithine transcarbamylase deficiency 311250 S Ornithine carbamoyltransferase deficiency 1.1.4. Citrullinaemia type1 215700 S Argininosuccinate synthetase deficiency 1.1.5. Argininosuccinic aciduria 207900 S Argininosuccinate lyase deficiency 1.1.6. Argininaemia 207800 S Arginase I deficiency 1.1.7. HHH syndrome 238970 S Hyperammonaemia-hyperornithinaemia-homocitrullinuria syndrome S Mitochondrial ornithine transporter (ORNT1) deficiency 1.1.8. Citrullinemia Type 2 603859 S Aspartate glutamate carrier deficiency ( SLC25A13) S Citrin deficiency 1.1.9. Hyperinsulinemic hypoglycemia and hyperammonemia caused by 138130 activating mutations in the GLUD1 gene 1.1.10. Other disorders of the urea cycle 238970 1.1.11. Unspecified hyperammonaemia 238970 1.2. Organic acidurias 1.2.1. Glutaric aciduria 1.2.1.1. Glutaric aciduria type I 231670 S Glutaryl-CoA dehydrogenase deficiency 1.2.1.2. Glutaric aciduria type III 231690 1.2.2. Propionic aciduria E711 232000 S Propionyl-CoA-Carboxylase deficiency 1.2.3. Methylmalonic aciduria E711 251000 1.2.3.1. Methylmalonyl-CoA mutase deficiency 1.2.3.2. Methylmalonyl-CoA epimerase deficiency 251120 1.2.3.3. Methylmalonic aciduria, unspecified 1.2.4. Isovaleric aciduria E711 243500 S Isovaleryl-CoA dehydrogenase deficiency 1.2.5. Methylcrotonylglycinuria E744 210200 S Methylcrotonyl-CoA carboxylase deficiency 1.2.6. Methylglutaconic aciduria E712 250950 1.2.6.1. Methylglutaconic aciduria type I E712 250950 S 3-Methylglutaconyl-CoA hydratase deficiency 1.2.6.2. -
Prenatal Testing Requisition
PRENATAL TESTING REQUISITION Please place green collection kit SPECIMENS: 1428 Madison Ave., Rm AB2-25, New York, NY 10029 Phone: 800-298-6470 / Fax: 212-241-0139 barcode here. Tax ID# 47-5349024/ CLIA# 33D2097541 123456-2-X Please fill out all the highlighted fields. Failure to do so may result in delayed testing and delivery of results. PATIENT INFORMATION ORDERING PHYSICIAN INFORMATION Sema4 will use this information to contact the patient via automatic email, SMS, and/or phone regarding payment, testing NAME GENETIC COUNSELOR status, and online results access. By submitting this requisition, I confirm that I have obtained the patient’s authorization to REQUIRED be contacted by Sema4 by these means (email address must be specific to patient listed on form). ADDRESS CLINIC / INSTITUTION PATIENT EMAIL ADDRESS PATIENT MOBILE/PRIMARY NUMBER REQUIRED RECOMMENDED REQUIRED LAST NAME FIRST NAME MI REQUIRED TELEPHONE REQUIRED REQUIRED DATE OF BIRTH BIOLOGICAL GENDER PATIENT IS A SPERM/EGG DONOR FAX MM / DD / YYYY M F REQUIRED YES NO PARTNER / SPOUSE LAST NAME PARTNER / SPOUSE FIRST NAME PHYSICIAN SIGNATURE OF CONSENT (REQUIRED): I certify that this patient (and/or their legal guardian, as necessary) has been informed of the benefits, risks, and limitations of the laboratory test(s) requested. I have answered this person’s questions. CLIENT MRN PARTNER / SPOUSE DATE OF BIRTH I have obtained a signed informed consent from this patient or their legal guardian for this testing in accordance with applicable MM / DD / YYYY laws and regulations, including N.Y. Civil Rights Law Section 79-L, and will retain this consent in the patient’s medical record. -
Diagnosis and Management of Mitochondrial Disease: a Consensus Statement from the Mitochondrial Medicine Society
Systematic Review © American College of Medical Genetics and Genomics © American College of Medical Genetics and Genomics SYSTEMATIC REVIEW Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Sumit Parikh, MD1, Amy Goldstein, MD2, Mary Kay Koenig, MD3, Fernando Scaglia, MD4, Gregory M. Enns, MD5, Russell Saneto, MD, PhD6,7, Irina Anselm, MD8, Bruce H. Cohen, MD9, Marni J. Falk, MD10, Carol Greene, MD11, Andrea L. Gropman, MD12, Richard Haas, MB BChir, MRCP13, Michio Hirano, MD14, Phil Morgan, MD15, Katherine Sims, MD16, Mark Tarnopolsky, MD, PhD17, Johan L.K. Van Hove, MD18, Lynne Wolfe, MS, CRNP19 and Salvatore DiMauro, MD20 Purpose: Te purpose of this statement is to review the literature Results: Consensus-based recommendations are provided for the regarding mitochondrial disease and to provide recommendations diagnosis and treatment of mitochondrial disease. for optimal diagnosis and treatment. Tis statement is intended for Conclusion: Te Delphi process enabled the formation of physicians who are engaged in diagnosing and treating these patients. consensus-based recommendations. We hope that these recom- Methods: Te Writing Group members were appointed by the mendations will help standardize the evaluation, diagnosis, and care Mitochondrial Medicine Society. Te panel included members with of patients with suspected or demonstrated mitochondrial disease. expertise in several diferent areas. Te panel members utilized a comprehensive review of the literature, surveys, and the Delphi Genet Med advance online publication 11 December 2014 method to reach consensus. We anticipate that this statement will Key Words: consensus criteria; Delphi method; mitochondrial need to be updated as the feld continues to evolve.