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Iron Dysregulation in Movement Disorders
Neurobiology of Disease 46 (2012) 1–18 Contents lists available at SciVerse ScienceDirect Neurobiology of Disease journal homepage: www.elsevier.com/locate/ynbdi Review Iron dysregulation in movement disorders Petr Dusek a,c, Joseph Jankovic a,⁎, Weidong Le b a Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA b Parkinson's Disease Research Laboratory, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA c Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic article info abstract Article history: Iron is an essential element necessary for energy production, DNA and neurotransmitter synthesis, myelination Received 9 November 2011 and phospholipid metabolism. Neurodegeneration with brain iron accumulation (NBIA) involves several genetic Revised 22 December 2011 disorders, two of which, aceruloplasminemia and neuroferritinopathy, are caused by mutations in genes directly Accepted 31 December 2011 involved in iron metabolic pathway, and others, such as pantothenate-kinase 2, phospholipase-A2 and fatty acid Available online 12 January 2012 2-hydroxylase associated neurodegeneration, are caused by mutations in genes coding for proteins involved in phospholipid metabolism. Phospholipids are major constituents of myelin and iron accumulation has been linked Keywords: Iron to myelin derangements. Another group of NBIAs is caused by mutations in lysosomal enzymes or transporters Neurodegeneration such as ATP13A2, mucolipin-1 and possibly also β-galactosidase and α-fucosidase. Increased cellular iron uptake Dystonia in these diseases may be caused by impaired recycling of iron which normally involves lysosomes. -
CURRENT Essentials of Nephrology & Hypertension
a LANGE medical book CURRENT ESSENTIALS: NEPHROLOGY & HYPERTENSION Edited by Edgar V. Lerma, MD Clinical Associate Professor of Medicine Section of Nephrology Department of Internal Medicine University of Illinois at Chicago College of Medicine Associates in Nephrology, SC Chicago, Illinois Jeffrey S. Berns, MD Professor of Medicine and Pediatrics Associate Dean for Graduate Medical Education The Perelman School of Medicine at the University of Pennsylvania Philadelphia, Pennsylvania Allen R. Nissenson, MD Emeritus Professor of Medicine David Geffen School of Medicine at UCLA Los Angeles, California Chief Medical Offi cer DaVita Inc. El Segundo, California New York Chicago San Francisco Lisbon London Madrid Mexico City Milan New Delhi San Juan Seoul Singapore Sydney Toronto Lerma_FM_p00i-xvi.indd i 4/27/12 10:33 AM Copyright © 2012 by The McGraw-Hill Companies, Inc. All rights reserved. Except as permitted under the United States Copyright Act of 1976, no part of this publication may be reproduced or distributed in any form or by any means, or stored in a database or retrieval system, without the prior written permission of the publisher. ISBN: 978-0-07-180858-3 MHID: 0-07-180858-2 The material in this eBook also appears in the print version of this title: ISBN: 978-0-07-144903-8, MHID: 0-07-144903-5. All trademarks are trademarks of their respective owners. Rather than put a trademark symbol after every occurrence of a trademarked name, we use names in an editorial fashion only, and to the benefi t of the trademark owner, with no intention of infringement of the trademark. -
Cerebral Salt Wasting Syndrome and Systemic Lupus Erythematosus: Case Report
Elmer ress Case Report J Med Cases. 2016;7(9):399-402 Cerebral Salt Wasting Syndrome and Systemic Lupus Erythematosus: Case Report Filipe Martinsa, c, Carolina Ouriquea, Jose Faria da Costaa, Joao Nuakb, Vitor Braza, Edite Pereiraa, Antonio Sarmentob, Jorge Almeidaa Abstract disorders, that results in hyponatremia and a decrease in ex- tracellular fluid volume. It is characterized by a hypotonic hy- Cerebral salt wasting (CSW) is a rare cause of hypoosmolar hypona- ponatremia with inappropriately elevated urine sodium con- tremia usually associated with acute intracranial disease character- centration in the setting of a normal kidney function [1-3]. ized by extracellular volume depletion due to inappropriate sodium The onset of this disorder is typically seen within the first wasting in the urine. We report a case of a 46-year-old male with 10 days following a neurological insult and usually lasts no recently diagnosed systemic lupus erythematosus (SLE) initially pre- more than 1 week [1, 2]. Pathophysiology is not completely senting with neurological involvement and an antiphospholipid syn- understood but the major mechanism might be the inappropri- drome (APS) who was admitted because of chronic asymptomatic ate and excessive release of natriuretic peptides which would hyponatremia previously assumed as secondary to syndrome of inap- result in natriuresis and volume depletion. A secondary neu- propriate antidiuretic hormone secretion (SIADH). Initial evaluation rohormonal response would result in an increase in the renin- revealed a hypoosmolar hyponatremia with high urine osmolality angiotensin system and consequently in antidiuretic hormone and elevated urinary sodium concentration. Clinically, the patient’s (ADH) production. Since the volume stimulus is more potent extracellular volume status was difficult to define accurately. -
Electrolyte and Acid-Base
Special Feature American Society of Nephrology Quiz and Questionnaire 2013: Electrolyte and Acid-Base Biff F. Palmer,* Mark A. Perazella,† and Michael J. Choi‡ Abstract The Nephrology Quiz and Questionnaire (NQ&Q) remains an extremely popular session for attendees of the annual meeting of the American Society of Nephrology. As in past years, the conference hall was overflowing with interested audience members. Topics covered by expert discussants included electrolyte and acid-base disorders, *Department of Internal Medicine, glomerular disease, ESRD/dialysis, and transplantation. Complex cases representing each of these categories University of Texas along with single-best-answer questions were prepared by a panel of experts. Prior to the meeting, program Southwestern Medical directors of United States nephrology training programs answered questions through an Internet-based ques- Center, Dallas, Texas; † tionnaire. A new addition to the NQ&Q was participation in the questionnaire by nephrology fellows. To review Department of Internal Medicine, the process, members of the audience test their knowledge and judgment on a series of case-oriented questions Yale University School prepared and discussed by experts. Their answers are compared in real time using audience response devices with of Medicine, New the answers of nephrology fellows and training program directors. The correct and incorrect answers are then Haven, Connecticut; ‡ briefly discussed after the audience responses, and the results of the questionnaire are displayed. This article and Division of recapitulates the session and reproduces its educational value for the readers of CJASN. Enjoy the clinical cases Nephrology, Department of and expert discussions. Medicine, Johns Clin J Am Soc Nephrol 9: 1132–1137, 2014. -
Secondary Hemochromatosis As a Result of Acute Transfusion-Induced Iron Overload in a Burn Patient Michael Amatto1 and Hernish Acharya2*
Amatto and Acharya Burns & Trauma (2016) 4:10 DOI 10.1186/s41038-016-0034-z CASE REPORT Open Access Secondary hemochromatosis as a result of acute transfusion-induced iron overload in a burn patient Michael Amatto1 and Hernish Acharya2* Abstract Background: Red blood cell transfusions are critical in burn management. The subsequent iron overload that can occur from this treatment can lead to secondary hemochromatosis with multi-organ damage. Case Presentation: While well recognized in patients receiving chronic transfusions, we present a case outlining the acute development of hemochromatosis secondary to multiple transfusions in a burn patient. Conclusions: Simple screening laboratory measures and treatment options exist which may significantly reduce morbidity; thus, we believe awareness of secondary hemochromatosis in those treating burn patients is critical. Keywords: Secondary hemochromatosis, Transfusion, Iron overload, Burn patients Background of parental iron or RBC transfusions, neonatal iron over- Acute and chronic treatment of the severely burned indi- load, aceruloplasminemia, and African iron overload [6, 7]. vidual is often complex due to many physical and psycho- Hemochromatosis is a disease characterized by iron logical factors [1, 2]. Resuscitation involving packed red accumulation in tissues. Initial symptoms and signs in- blood cell (RBC) transfusion is often essential [3]. How- clude skin pigmentation, fatigue, erectile dysfunction, ever, RBC transfusion carries potential risks including and arthralgia while later stages of the disease result in hemolytic reactions and infections, as well as other com- cardiomyopathy, diabetes mellitus, hypogonadism, hypo- plications that are often overlooked such as iron overload pituitarism, and hypoparathyroidism, as well as liver fi- [4, 5]. Each unit of RBCs contains 200–250 mg of iron, brosis and cirrhosis which can lead to hepatocellular and with no physiologic excretion mechanism, multiple carcinoma [6]. -
A Curated Gene List for Reporting Results of Newborn Genomic Sequencing
© American College of Medical Genetics and Genomics ORIGINAL RESEARCH ARTICLE A curated gene list for reporting results of newborn genomic sequencing Ozge Ceyhan-Birsoy, PhD1,2,3, Kalotina Machini, PhD1,2,3, Matthew S. Lebo, PhD1,2,3, Tim W. Yu, MD3,4,5, Pankaj B. Agrawal, MD, MMSC3,4,6, Richard B. Parad, MD, MPH3,7, Ingrid A. Holm, MD, MPH3,4, Amy McGuire, PhD8, Robert C. Green, MD, MPH3,9,10, Alan H. Beggs, PhD3,4, Heidi L. Rehm, PhD1,2,3,10; for the BabySeq Project Purpose: Genomic sequencing (GS) for newborns may enable detec- of newborn GS (nGS), and used our curated list for the first 15 new- tion of conditions for which early knowledge can improve health out- borns sequenced in this project. comes. One of the major challenges hindering its broader application Results: Here, we present our curated list for 1,514 gene–disease is the time it takes to assess the clinical relevance of detected variants associations. Overall, 954 genes met our criteria for return in nGS. and the genes they impact so that disease risk is reported appropri- This reference list eliminated manual assessment for 41% of rare vari- ately. ants identified in 15 newborns. Methods: To facilitate rapid interpretation of GS results in new- Conclusion: Our list provides a resource that can assist in guiding borns, we curated a catalog of genes with putative pediatric relevance the interpretive scope of clinical GS for newborns and potentially for their validity based on the ClinGen clinical validity classification other populations. framework criteria, age of onset, penetrance, and mode of inheri- tance through systematic evaluation of published evidence. -
Central Nervous System Involvement in a Rare Genetic Iron Overload Disorder
Case report Central nervous system involvement in a rare genetic iron overload disorder C. Bethlehem*, B. van Harten, M. Hoogendoorn Department of Internal Medicine, Medical Center Leeuwarden, Leeuwarden, the Netherlands, *corresponding author: tel.: +31 (0)58-286 38 12, e-mail: [email protected] a b s t r a C t in most genetic iron overload disorders the diagnosis can what was known on this topic? be rejected when transferrin saturation is low. we describe The diagnostic approach in patients suspected a patient and her family with hyperferritinaemia and for hereditary haemochromatosis is focused low transferrin saturation with iron accumulation in the on hyperferritinaemia and a high transferrin central nervous system (CNS) and liver due to hereditary saturation due to the high frequency of HFE-related aceruloplasminaemia. in this rare genetic iron overload haemochromatosis. disorder oxidation of iron is disturbed, resulting in storage of iron in the CNS and visceral organs. what does this add? Hyperferritinaemia in combination with a low transferrin saturation does not always exclude K e y w o r d s an iron overload disorder. Particularly when neurological symptoms occur in the presence Iron overload disorder, hereditary aceruloplasminaemia, of persistent hyperferritinaemia, hereditary hereditary haemochromatosis aceruloplasminaemia needs to be excluded. C a s e r e p o r t A 59-year-old woman presented at the neurology accumulation in the liver was proven with MRI, showing department with ataxia, involuntary movements and an iron concentration of 350 mmol/g (normal <36 mmol/g) mild cognitive impairment. Her medical history was according to the protocol of Gandon (University of Rennes, notable for chronic obstructive pulmonary disease and France) and liver biopsy (grade 4 iron accumulation). -
EASL Clinical Practice Guidelines: Wilson's Disease
Clinical Practice Guidelines EASL Clinical Practice Guidelines: Wilson’s disease ⇑ European Association for the Study of the Liver Summary with acute liver failure. Wilson’s disease is not just a disease of children and young adults, but may present at any age [5]. This Clinical Practice Guideline (CPG) has been developed to Wilson’s disease is a genetic disorder that is found worldwide. assist physicians and other healthcare providers in the diagnosis Wilson’s disease is recognized to be more common than previ- and management of patients with Wilson’s disease. The goal is to ously thought, with a gene frequency of 1 in 90–150 and an inci- describe a number of generally accepted approaches for diagno- dence (based on adults presenting with neurologic symptoms sis, prevention, and treatment of Wilson’s disease. Recommenda- [6]) that may be as high as 1 in 30,000 [7]. More than 500 distinct tions are based on a systematic literature review in the Medline mutations have been described in the Wilson gene, from which (PubMed version), Embase (Dialog version), and the Cochrane 380 have a confirmed role in the pathogenesis of the disease [8]. Library databases using entries from 1966 to 2011. The Grades of Recommendation, Assessment, Development, and Evaluation (GRADE) system used in other EASL CPGs was used and set against the somewhat different grading system used in the Clinical presentation AASLD guidelines (Table 1A and B). Unfortunately, there is not a single randomized controlled trial conducted in Wilson’s dis- The most common presentations are with liver disease or neuro- ease which has an optimal design. -
Parenteral Nutrition Primer: Balance Acid-Base, Fluid and Electrolytes
Parenteral Nutrition Primer: Balancing Acid-Base, Fluids and Electrolytes Phil Ayers, PharmD, BCNSP, FASHP Todd W. Canada, PharmD, BCNSP, FASHP, FTSHP Michael Kraft, PharmD, BCNSP Gordon S. Sacks, Pharm.D., BCNSP, FCCP Disclosure . The program chair and presenters for this continuing education activity have reported no relevant financial relationships, except: . Phil Ayers - ASPEN: Board Member/Advisory Panel; B Braun: Consultant; Baxter: Consultant; Fresenius Kabi: Consultant; Janssen: Consultant; Mallinckrodt: Consultant . Todd Canada - Fresenius Kabi: Board Member/Advisory Panel, Consultant, Speaker's Bureau • Michael Kraft - Rockwell Medical: Consultant; Fresenius Kabi: Advisory Board; B. Braun: Advisory Board; Takeda Pharmaceuticals: Speaker’s Bureau (spouse) . Gordon Sacks - Grant Support: Fresenius Kabi Sodium Disorders and Fluid Balance Gordon S. Sacks, Pharm.D., BCNSP Professor and Department Head Department of Pharmacy Practice Harrison School of Pharmacy Auburn University Learning Objectives Upon completion of this session, the learner will be able to: 1. Differentiate between hypovolemic, euvolemic, and hypervolemic hyponatremia 2. Recommend appropriate changes in nutrition support formulations when hyponatremia occurs 3. Identify drug-induced causes of hypo- and hypernatremia No sodium for you! Presentation Outline . Overview of sodium and water . Dehydration vs. Volume Depletion . Water requirements & Equations . Hyponatremia • Hypotonic o Hypovolemic o Euvolemic o Hypervolemic . Hypernatremia • Hypovolemic • Euvolemic • Hypervolemic Sodium and Fluid Balance . Helpful hint: total body sodium determines volume status, not sodium status . Examples of this concept • Hypervolemic – too much volume • Hypovolemic – too little volume • Euvolemic – normal volume Water Distribution . Total body water content varies from 50-70% of body weight • Dependent on lean body mass: fat ratio o Fat water content is ~10% compared to ~75% for muscle mass . -
Diagnosis and Treatment of Wilson Disease: an Update
AASLD PRACTICE GUIDELINES Diagnosis and Treatment of Wilson Disease: An Update Eve A. Roberts1 and Michael L. Schilsky2 This guideline has been approved by the American Asso- efit versus risk) and level (assessing strength or certainty) ciation for the Study of Liver Diseases (AASLD) and rep- of evidence to be assigned and reported with each recom- resents the position of the association. mendation (Table 1, adapted from the American College of Cardiology and the American Heart Association Prac- Preamble tice Guidelines3,4). These recommendations provide a data-supported ap- proach to the diagnosis and treatment of patients with Introduction Wilson disease. They are based on the following: (1) for- Copper is an essential metal that is an important cofac- mal review and analysis of the recently-published world tor for many proteins. The average diet provides substan- literature on the topic including Medline search; (2) tial amounts of copper, typically 2-5 mg/day; the American College of Physicians Manual for Assessing recommended intake is 0.9 mg/day. Most dietary copper 1 Health Practices and Designing Practice Guidelines ; (3) ends up being excreted. Copper is absorbed by entero- guideline policies, including the AASLD Policy on the cytes mainly in the duodenum and proximal small intes- Development and Use of Practice Guidelines and the tine and transported in the portal circulation in American Gastroenterological Association Policy State- association with albumin and the amino acid histidine to 2 ment on Guidelines ; (4) the experience of the authors in the liver, where it is avidly removed from the circulation. the specified topic. -
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism Birmingham, UK, 4 – 7 September 2012
J Inherit Metab Dis (2012) 35 (Suppl 1):S1–S182 DOI 10.1007/s10545-012-9512-z ABSTRACTS Annual Symposium of the Society for the Study of Inborn Errors of Metabolism Birmingham, UK, 4 – 7 September 2012 This supplement was not sponsored by outside commercial interests. It was funded entirely by the SSIEM. 01. Amino Acids and PKU O-002 NATURAL INHIBITORS OF CARNOSINASE (CN1) O-001 Peters V1 ,AdelmannK2 ,YardB2 , Klingbeil K1 ,SchmittCP1 , Zschocke J3 3-HYDROXYISOBUTYRIC ACID DEHYDROGENASE DEFICIENCY: 1Zentrum für Kinder- und Jugendmedizin de, Heidelberg, Germany IDENTIFICATION OF A NEW INBORN ERROR OF VALINE 2Universitätsklinik, Mannheim, Germany METABOLISM 3Humangenetik, Innsbruck, Austria Wanders RJA1 , Ruiter JPN1 , Loupatty F.1 , Ferdinandusse S.1 , Waterham HR1 , Pasquini E.1 Background: Carnosinase degrades histidine-containing dipeptides 1Div Metab Dis, Univ Child Hosp, Amsterdam, Netherlands such as carnosine and anserine which are known to have several protective functions, especially as antioxidant agents. We recently Background, Objectives: Until now only few patients with an established showed that low carnosinase activities protect from diabetic nephrop- defect in the valine degradation pathway have been identified. Known athy, probably due to higher histidine-dipeptide concentrations. We deficiencies include 3-hydroxyisobutyryl-CoA hydrolase deficiency and now characterized the carnosinase metabolism in children and identi- methylmalonic semialdehyde dehydrogenase (MMSADH) deficiency. On fied natural inhibitors of carnosinase. the other hand many patients with 3-hydroxyisobutyric aciduria have been Results: Whereas serum carnosinase activity and protein concentrations described with a presumed defect in the valine degradation pathway. To correlate in adults, children have lower carnosinase activity although pro- identify the enzymatic and molecular defect in a group of patients with 3- tein concentrations were within the same level as for adults. -
ACP NATIONAL ABSTRACTS COMPETITIONS MEDICAL STUDENTS 2019 Table of Contents
ACP NATIONAL ABSTRACTS COMPETITIONS MEDICAL STUDENTS 2019 Table of Contents MEDICAL STUDENT RESEARCH PODIUM PRESENTATIONS ...................................................................... 8 COLOMBIA RESEARCH PODIUM PRESENTATION - Andrey Sanko ........................................................ 9 Clinical Factors Associated with High Glycemic Variability Defined by the Variation Coefficient in Patients with Type 2 Diabetes .......................................................................................................... 9 MARYLAND RESEARCH PODIUM PRESENTATION - Asmi Panigrahi ................................................... 11 Influence of Individual-Level Neighborhood Factors on Health Promoting and Risk Behaviors in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) ........................................... 11 NEW YORK RESEARCH PODIUM PRESENTATION - Kathryn M Linder ................................................ 13 Implementation of a Medical Student-Led Emergency Absentee Ballot Voting Initiative at an Urban Tertiary Care University Hospital ......................................................................................... 13 OREGON RESEARCH PODIUM PRESENTATION - Sherry Liang ............................................................ 15 A Novel Student-Led Improvement Science Curriculum for Pre-Clinical Medical Students .......... 15 TENNESSEE RESEARCH PODIUM PRESENTATION - Zara Latif ............................................................. 17 Impaired Brain Cells Response in Obesity