Managing the Critically Ill Child a Guide for Anaesthetists and Emergency Physicians

Total Page:16

File Type:pdf, Size:1020Kb

Managing the Critically Ill Child a Guide for Anaesthetists and Emergency Physicians Managing the Critically Ill Child A Guide for Anaesthetists and Emergency Physicians Downloaded from Cambridge Books Online by IP 128.122.149.154 on Mon Mar 18 18:40:43 WET 2013. http://ebooks.cambridge.org/ebook.jsf?bid=CBO9781139107815 Cambridge Books Online © Cambridge University Press, 2013 (021)66485438 66485457 www.ketabpezeshki.com Downloaded from Cambridge Books Online by IP 128.122.149.154 on Mon Mar 18 18:40:43 WET 2013. http://ebooks.cambridge.org/ebook.jsf?bid=CBO9781139107815 Cambridge Books Online © Cambridge University Press, 2013 Managing the Critically Ill Child A Guide for Anaesthetists and Emergency Physicians Edited by Richard Skone Specialist Registrar, Paediatric Intensive Care Medicine and Anaesthetics, Birmingham Children’s Hospital, Birmingham, UK Fiona Reynolds Paediatric Intensivist, Paediatric Intensive Care Unit, Birmingham Children’s Hospital, Birmingham, UK Steven Cray Consultant Paediatric Anaesthetist, Birmingham Children’s Hospital, Birmingham, UK Oliver Bagshaw Consultant in Anaesthesia and Intensive Care, Birmingham Children’s Hospital, Birmingham, UK Kathleen Berry Consultant in Paediatric Emergency Medicine, Birmingham Children’s Hospital, Birmingham, UK (021)66485438 66485457 www.ketabpezeshki.com Downloaded from Cambridge Books Online by IP 128.122.149.154 on Mon Mar 18 18:40:43 WET 2013. http://ebooks.cambridge.org/ebook.jsf?bid=CBO9781139107815 Cambridge Books Online © Cambridge University Press, 2013 CAMBRIDGE UNIVERSITY PRESS Cambridge, New York, Melbourne, Madrid, Cape Town, Singapore, São Paulo, Delhi, Mexico City Cambridge University Press The Edinburgh Building, Cambridge CB2 8RU, UK Published in the United States of America by Cambridge University Press, New York www.cambridge.org Information on this title: www.cambridge.org/9781107652323 © Cambridge University Press 2013 This publication is in copyright. Subject to statutory exception and to the provisions of relevant collective licensing agreements, no reproduction of any part may take place without the written permission of Cambridge University Press. First published 2013 Printed and bound in the United Kingdom by the MPG Books Group A catalogue record for this publication is available from the British Library Library of Congress Cataloguing in Publication data Managing the critically ill child : a guide for anaesthetists and emergency physicians / edited by Richard Skone ... [et al.]. p. cm. Includes index. ISBN 978-1-107-65232-3 (Paperback) 1. Pediatric emergencies. 2. Critically ill children–Medical care. I. Skone, Richard RJ370.M34 2013 618.9200025–dc23 2012028035 ISBN 978-1-107-65232-3 Paperback Cambridge University Press has no responsibility for the persistence or accuracy of URLs for external or third-party internet websites referred to in this publication, and does not guarantee that any content on such websites is, or will remain, accurate or appropriate. Every effort has been made in preparing this book to provide accurate and up-to-date information which is in accord with accepted standards and practice at the time of publication. Although case histories are drawn from actual cases, every effort has been made to disguise the identities of the individuals involved. Nevertheless, the authors, editors and publishers can make no warranties that the information contained herein is totally free from error, not least because clinical standards are constantly changing through research and regulation. The authors, editors and publishers therefore disclaim all liability for direct or con- sequential damages resulting from the use of material contained in this book. Readers are strongly advised to pay careful attention to infor- mation provided by the manufacturer of any drugs or equipment that they plan to use. (021)66485438 66485457 www.ketabpezeshki.com Downloaded from Cambridge Books Online by IP 128.122.149.154 on Mon Mar 18 18:40:43 WET 2013. http://ebooks.cambridge.org/ebook.jsf?bid=CBO9781139107815 Cambridge Books Online © Cambridge University Press, 2013 Contents List of contributors vii Section 1 – The District General 10 The child with seizures 95 Hospital Setting Katie Z. Wright 1 Setting up a department for 11 The child with diabetic managing a sick child 1 ketoacidosis 104 Adrian P. Jennings and Julian Berlet Ian Jenkins 2 Team approach and organization 9 12 Inherited metabolic 112 Richard Skone conditions Saikat Santra 3 Equipment 14 13 122 Fiona Reynolds Paediatric toxicology Marius Holmes Section 2 – Clinical 14 The child with anaphylaxis 130 Conditions Nick Sargant 15 The child with stridor 137 4 Stabilization of the critically Ed Carver and Tim Day-Thompson ill child: the initial approach 21 Richard Skone 16 The difficult paediatric 146 5 The child with sepsis 33 airway Matthew D. Christopherson and Oliver Masters and Alistair Paul Baines Cranston 17 159 6 The child with cardiac disease 48 The surgical abdomen John Smith, with illustrations by Suren Arul Mazyar Kanani 18 Paediatric trauma 169 7 The child with shortness of Karl Thies 64 breath 19 The child with raised intracranial Brian Shields and Benjamin Stanhope pressure 180 8 The child with asthma 76 Phil Hyde Josephine Langton and Stuart 20 The child with burns 192 Hartshorn Sapna Verma and Manu Sundaram 9 The child with decreased 21 Blood product administration 87 consciousness and coma in children 201 Mark D. Lyttle Oliver Bagshaw v (021)66485438 66485457 www.ketabpezeshki.com Downloaded from Cambridge Books Online by IP 128.122.149.154 on Mon Mar 18 18:41:08 WET 2013. http://ebooks.cambridge.org/ebook.jsf?bid=CBO9781139107815 Cambridge Books Online © Cambridge University Press, 2013 vi Contents 22 The sick neonate presenting Section 4 – The Children’s with shock 211 Fiona Reynolds Hospital Setting 31 Ventilation 277 Section 3 – What You Could Be J. Nick Pratap Expected to Do in a District 32 Fluid therapy 288 General Hospital Adrian Plunkett 33 Pharmacology in children 300 23 Ongoing management of the successful arrest 219 Rhian Isaac Barney Scholefield 34 Neonates 309 Richard Skone 24 Referring-team-led transfers 228 Andrew J. Baldock and Gareth D. Jones Section 5 – Golden Rules 25 Anaesthetizing for a surgical 35 Quick reference for emergency 235 emergencies 321 Andy Tatman and Richard Kasyap Jamalapuram Pierson 36 Drug infusions 323 26 Managing children on an adult Kasyap Jamalapuram critical care unit 245 37 Top tips for practical Helga Becker procedures 325 27 Pain management in Steven Cray children 250 38 UK vaccination schedule 329 Ursula Dickson Richard Skone 28 Children with complex needs and 39 Common syndromes in the 258 disability critically ill child 330 Kate Skone and Ian Oliver Bagshaw Wacogne 29 When a child dies 266 Fiona Reynolds Index 340 30 Child protection 270 Kate Skone and Geoff Debelle (021)66485438 66485457 www.ketabpezeshki.com Downloaded from Cambridge Books Online by IP 128.122.149.154 on Mon Mar 18 18:41:08 WET 2013. http://ebooks.cambridge.org/ebook.jsf?bid=CBO9781139107815 Cambridge Books Online © Cambridge University Press, 2013 List of contributors Suren Arul Matthew D. Christopherson Consultant Paediatric Surgeon, Specialist Registrar in Paediatric Intensive Birmingham Children’s Hospital, Care, Alder Hey Children’s NHS Birmingham, UK Foundation Trust, Liverpool, UK Oliver Bagshaw Alistair Cranston Consultant in Anaesthesia and Intensive Consultant Anaesthetist, Care, Birmingham Children’s Hospital, Birmingham Children’s Hospital, Birmingham, UK Birmingham, UK Paul Baines Steven Cray Consultant in Paediatric Intensive Care, Alder Consultant Paediatric Anaesthetist, Hey Children’s NHS Foundation Trust; Birmingham Children’s Hospital, Wellcome Trust Biomedical Ethics Research Birmingham, UK Fellow, Department of Professional Ethics, Keele University, Staffordshire, UK Tim Day-Thompson Specialist Registrar in Anaesthesia, Andrew J. Baldock Birmingham School of Anaesthesia, Specialist Registrar in Anaesthesia, Birmingham, UK Southampton University Hospital, Southampton, UK Geoff Debelle Consultant Paediatrician, Helga Becker Birmingham Children’s Hospital, Consultant Anaesthetist, Dudley Group Birmingham, UK NHS Foundation Trust, West Midlands, UK Ursula Dickson Julian Berlet Consultant in Paediatric Anaesthesia, Consultant Anaesthetist, Worcester Royal Birmingham Children’s Hospital, Hospital, Worcester, UK Birmingham, UK Kathleen Berry Stuart Hartshorn Consultant in Paediatric Emergency Consultant in Paediatric Emergency ’ Medicine, Birmingham Children s Medicine, Birmingham Children’s Hospital, Birmingham, UK Hospital, Birmingham, UK Ed Carver Marius Holmes Consultant Paediatric Anaesthetist, ’ Specialist Registrar in Emergency Birmingham Children s Hospital, Medicine, West Midlands Deanery, UK Birmingham, UK vii (021)66485438 66485457 www.ketabpezeshki.com Downloaded from Cambridge Books Online by IP 128.122.149.154 on Mon Mar 18 18:41:24 WET 2013. http://ebooks.cambridge.org/ebook.jsf?bid=CBO9781139107815 Cambridge Books Online © Cambridge University Press, 2013 viii List of contributors Phil Hyde Richard Pierson Consultant Paediatric Intensivist, Paediatric Specialist Registrar in Anaesthetics, Intensive Care Unit, Southampton General West Midlands Deanery, UK Hospital, Southampton, UK Adrian Plunkett Rhian Isaac Consultant Paediatric Intensivist, Paediatric Pharmacist, Birmingham Birmingham Children’s Hospital, Children’s Hospital, Birmingham, UK Birmingham, UK Kasyap Jamalapuram J. Nick Pratap Specialist Registrar, Paediatric Emergency Assistant Professor in Anaesthesia and ’ Medicine, West Midlands Deanery,
Recommended publications
  • Ebf Factors and Myod Cooperate to Regulate Muscle Relaxation Via Atp2a1
    ARTICLE Received 12 Feb 2014 | Accepted 2 Apr 2014 | Published 2 May 2014 DOI: 10.1038/ncomms4793 Ebf factors and MyoD cooperate to regulate muscle relaxation via Atp2a1 Saihong Jin1, Jeehee Kim1, Torsten Willert1, Tanja Klein-Rodewald2, Mario Garcia-Dominguez3,4, Matias Mosqueira5, Rainer Fink5, Irene Esposito2,6, Lorenz C. Hofbauer7, Patrick Charnay3 & Matthias Kieslinger1 Myogenic regulatory factors such as MyoD and Myf5 lie at the core of vertebrate muscle differentiation. However, E-boxes, the cognate binding sites for these transcription factors, are not restricted to the promoters/enhancers of muscle cell-specific genes. Thus, the specificity in myogenic transcription is poorly defined. Here we describe the transcription factor Ebf3 as a new determinant of muscle cell-specific transcription. In the absence of Ebf3 the lung does not unfold at birth, resulting in respiratory failure and perinatal death. This is due to a hypercontractile diaphragm with impaired Ca2 þ efflux-related muscle functions. Expression of the Ca2 þ pump Serca1 (Atp2a1) is downregulated in the absence of Ebf3, and its transgenic expression rescues this phenotype. Ebf3 binds directly to the promoter of Atp2a1 and synergises with MyoD in the induction of Atp2a1. In skeletal muscle, the homologous family member Ebf1 is strongly expressed and together with MyoD induces Atp2a1. Thus, Ebf3 is a new regulator of terminal muscle differentiation in the diaphragm, and Ebf factors cooperate with MyoD in the induction of muscle-specific genes. 1 Institute of Clinical Molecular Biology and Tumor Genetics, Helmholtz Zentrum Mu¨nchen, National Research Center for Environmental Health, Marchioninistrasse 25, 81377 Munich, Germany. 2 Institute of Pathology, Helmholtz Zentrum Mu¨nchen, National Research Center for Environmental Health, Ingolsta¨dter Landstr.
    [Show full text]
  • Exome Analysis Identifies Brody Myopathy in a Family Diagnosed
    ORIGINAL ARTICLE Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility Nyamkhishig Sambuughin1,2, Elena Zvaritch3, Natasha Kraeva4, Olga Sizova3, Erica Sivak5, Kelley Dickson2, Margaret Weglinski6, John Capacchione2, Sheila Muldoon2, Sheila Riazi4, Susan Hamilton7, Barbara Brandom5 & David H. MacLennan3 1Defense and Veterans Center for Integrated Pain Management, Henry M. Jackson Foundation, Rockville, Maryland 2Department of Anesthesiology, Uniformed Services University, Bethesda, Maryland 3Banting and Best Department of Medical Research, University of Toronto, Toronto, Ontario, Canada 4Department of Anesthesia, Toronto General Hospital, Toronto, Ontario, Canada 5Department of Anesthesiology, Children’s Hospital, University of Pittsburgh, Pittsburgh, Pennsylvania 6Department of Anesthesiology, Mayo Clinic, Rochester, Minnesota 7Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas Keywords Abstract Brody myopathy, malignant hyperthermia, RYR1, SERCA1 Whole exome sequencing (WES) was used to determine the primary cause of muscle disorder in a family diagnosed with a mild, undetermined myopathy Correspondence and malignant hyperthermia (MH) susceptibility (MHS). WES revealed the Nyamkhishig Sambuughin, Department of compound heterozygous mutations, p.Ile235Asn and p.Glu982Lys, in ATP2A1, Anesthesiology, Uniformed Services encoding the sarco(endo)plasmic reticulum Ca2+ ATPase type 1 (SERCA1), a University, 4301 Jones Bridge Rd, Bethesda, calcium pump,
    [Show full text]
  • ATP2A1 Gene Atpase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1
    ATP2A1 gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 Normal Function The ATP2A1 gene provides instructions for making an enzyme called sarco(endo) plasmic reticulum calcium-ATPase 1 (SERCA1). This enzyme belongs to a family of ATPase enzymes that help control the level of positively charged calcium atoms ( calcium ions) inside cells. The SERCA1 enzyme is found in skeletal muscle cells. ( Skeletal muscles are the muscles used for movement.) Within muscle cells, the SERCA1 enzyme is located in the membrane of a structure called the sarcoplasmic reticulum. This structure plays a major role in muscle contraction and relaxation by storing and releasing calcium ions. When calcium ions are transported out of the sarcoplasmic reticulum, muscles contract; when calcium ions are transported into the sarcoplasmic reticulum, muscles relax. The SERCA1 enzyme transports calcium ions from the cell into the sarcoplasmic reticulum, triggering muscle relaxation. Health Conditions Related to Genetic Changes Brody myopathy At least 10 mutations in the ATP2A1 gene have been found to cause Brody myopathy, a muscle disorder characterized by muscle cramping after exercise. Most ATP2A1 gene mutations lead to a premature stop signal in the instructions for making the SERCA1 enzyme, resulting in a nonfunctional enzyme. Other mutations lead to the production of a SERCA1 enzyme with decreased function. As a result, calcium ions are slow to enter the sarcoplasmic reticulum and muscle relaxation is delayed. After exercise or other strenuous activity, during which the muscles rapidly contract and relax, people with Brody myopathy develop muscle cramps because their muscles cannot fully relax. Scientists believe that other proteins or other pathways may function in the absence of a fully functional SERCA1 enzyme to transport calcium ions into the sarcoplasmic reticulum and help with muscle relaxation.
    [Show full text]
  • WO 2015/048577 A2 April 2015 (02.04.2015) W P O P C T
    (12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (10) International Publication Number (43) International Publication Date WO 2015/048577 A2 April 2015 (02.04.2015) W P O P C T (51) International Patent Classification: (81) Designated States (unless otherwise indicated, for every A61K 48/00 (2006.01) kind of national protection available): AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, (21) International Application Number: BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, PCT/US20 14/057905 DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, (22) International Filing Date: HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KN, KP, KR, 26 September 2014 (26.09.2014) KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, (25) Filing Language: English PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, (26) Publication Language: English SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. (30) Priority Data: 61/883,925 27 September 2013 (27.09.2013) US (84) Designated States (unless otherwise indicated, for every 61/898,043 31 October 2013 (3 1. 10.2013) US kind of regional protection available): ARIPO (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, (71) Applicant: EDITAS MEDICINE, INC.
    [Show full text]
  • Identification of a Missense Mutation in the Bovine ATP2A1 Gene
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector Genomics 92 (2008) 474–477 Contents lists available at ScienceDirect Genomics journal homepage: www.elsevier.com/locate/ygeno Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: An animal model of human Brody disease Cord Drögemüller a,⁎, Michaela Drögemüller a, Tosso Leeb a, Francesco Mascarello b, Stefania Testoni c, Marco Rossi d, Arcangelo Gentile d, Ernesto Damiani e, Roberta Sacchetto b a Institute of Genetics, Vetsuisse Faculty, University of Berne, Bremgartenstrasse 109a, CH-3001 Berne, Switzerland b Department of Experimental Veterinary Sciences, University of Padua, Italy c Department of Veterinary Clinical Sciences, University of Padua, Italy d Veterinary Clinical Department, University of Bologna, Italy e Department of Experimental Biomedical Sciences, University of Padua, Italy article info abstract Article history: Congenital pseudomyotonia in Chianina cattle is a muscle function disorder very similar to that of Brody Received 6 July 2008 disease in humans. Mutations in the human ATP2A1 gene, encoding SERCA1, cause Brody myopathy. The Accepted 31 July 2008 analysis of the collected Chianina pedigree data suggested monogenic autosomal recessive inheritance and Available online 25 September 2008 revealed that all 17 affected individuals traced back to a single founder. A deficiency of SERCA1 function in skeletal muscle of pseudomyotonia affected Chianina cattle was observed as SERCA1 activity in affected Keywords: Cattle animals was decreased by about 70%. Linkage analysis showed that the mutation was located in the ATP2A1 Chianina gene region on BTA25 and subsequent mutation analysis of the ATP2A1 exons revealed a perfectly associated ATP2A1 missense mutation in exon 6 (c.491GNA) leading to a p.Arg164His substitution.
    [Show full text]
  • Download CGT Exome V2.0
    CGT Exome version 2.
    [Show full text]
  • ICNMD XIII 13Th International Congress on Neuromuscular
    ICNMD XIII 13th International congress on Neuromuscular Diseases Nice, France July 5-10, 2014 Poster Sessions Abstract Books Journal of Neuromuscular Diseases 1 (2014) S83–S403 S83 DOI 10.3233/JND-149002 IOS Press Abstracts PF1 These unexpected results were confi rmed in vitro in cultured myoblasts. Accordingly MyoD and MyoG expressions were not altered by Srf loss. PS1-1 / #138 - that SC late differentiation and fi ber growth were Theme: 1.1 - Basic sciences in NMD: Muscle homeostasis / Muscle altered in vivo and in vitro. regeneration Further characterization of SC cell behaviour (self- renewal, motility, survival...) will be presented. In ad- Role of Serum response factor in dition, we performed transcriptomic studies and muscular satellite cells identifi ed the set of genes whose expressions are al- tered by Srf loss in proliferating and differentiating Voahangy Randrianarison-Huetz, Aikaterini myoblasts. Genes identifi ed in this screen will aid de- Papaefthymiou, Laura Collard, Ulduz Faradova, ciphering the underlying molecular mechanism. Athanassia Sotiropoulos Genetics and Development, Institut Cochin, Paris, France PS1-2 / #247 In the muscular system, thetranscription factor Srf Theme: 1.1 - Basic sciences in NMD: Muscle homeostasis / Muscle (Serum response factor) controls the expression of a regeneration wide range of genes including those involved in pro- liferation (immediate early genes) and myogenic dif- Sdf-1 promotes BMSCs participation in ferentiation (MyoD, a-actin). Indeed, inhibition of Srf regeneration of Pax7-/- mouse skeletal in cultured myogenic cell lines C2C12 was shown to impede myoblast’s proliferation and differentiation muscles into myotubes. However data are lacking regarding Kamil Kowalski, Maria Ciemerych, Edyta Brzóska the role of Srf in muscle stem cells behavior in vivo.
    [Show full text]
  • Neuro)Muscular Panel 03-12-2018 Versie Centrum Voor Medische Genetica Gent (215 Genen
    H9.1-OP2-B9: Genpanel Neuromusculaire Dystrofie, 03-12-2018 in voege op 3/12/2018 (Neuro)Muscular panel 03-12-2018 versie Centrum voor Medische Genetica Gent (215 genen) GitHub commit: e0a58ebf6cd19fa332a01b6b7109c050aee29f3e Associated phenotype, OMIM phenotype ID, phenotype Gene OMIM gene ID mapping key and inheritance pattern ABHD5 604780 Chanarin-Dorfman syndrome, 275630 (3), Autosomal recessive ACADVL 609575 VLCAD deficiency, 201475 (3), Autosomal recessive Myopathy, actin, congenital, with cores, 161800 (3), Autosomal recessive, Autosomal dominant; Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3), Autosomal recessive, Autosomal dominant; Myopathy, congenital, with fiber-type ACTA1 102610 disproportion 1, 255310 (3), Autosomal recessive, Autosomal dominant; ?Myopathy, scapulohumeroperoneal, 616852 (3), Autosomal dominant; Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3), Autosomal recessive, Autosomal dominant Fibrodys plasia ossificans progressiva, 135100 (3), Autosomal ACVR1 102576 dominant Glycogen storage disease IIIa, 232400 (3), Autosomal recessive; AGL 610860 Glycogen storage disease IIIb, 232400 (3), Autosomal recessive Myasthenic syndrome, congenital, 8, with pre- and postsynaptic AGRN 103320 defects, 615120 (3), Autosomal recessive ALDOA 103850 Glycogen storage disease XII, 611881 (3), Autosomal recessive ?Congenital disorder of glycosylation, type Is, 300884 (3), X -linked ALG13 300776 dominant; Epileptic encephalopathy, early infantile, 36, 300884 (3), X-linked dominant ?Myasthenic
    [Show full text]
  • Supplementary Tables 1 Final.Xlsx
    Supplementary table 1. Common diseases associated with calcium channels and pumps, and their comparative embryonic expression patterns in mouse, zebrafish and Xenopus [1,136–138]. Gene Symbol Gene Name Diseases/Disorders Embryonic Expression in Mouse Embryonic Expression in Embryonic Expression in Zebrafish Xenopus Cacna1a Calcium channel, Spinocerebellar ataxia 6 Earliest stage of expression is Expression reported from 50% Earliest stage of expression voltage-dependent, (SCA6) [MIM:183086], E11.5 , and this gene is expressed epiboly to Day 5 in following detected using ISH is stages 13 , P/Q type, alpha 1A Migraine, familial in the following tissues: Brain tissues: Central nervous system, and this gene is expressed in the subunit hemiplegic, 1 (FHM1) cranial ganglion, neuron, retinal following tissues: Auditory nerve, [MIM:141500], Episodic ganglion cell layer, Rohon-Beard cranial placode, eye, facial nerve, ataxia 2 (EA2) neuron, spinal cord dorsal region, forebrain, glossopharyngeal nerve, [MIM:108500], Epileptic whole organism hindbrain, lens, midbrain, neural encephalopathy, early tube, pineal gland, retinal ganglion infantile, 42 (EIEE42) cell layer, retinal inner nuclear [MIM:617106] layer Cacna1b Calcium channel, Dystonia 23 (DYT23) Earliest stage of expression is Expression reported from day 5 to Earliest stage of expression voltage-dependent, N [MIM:614860] E8.25 , and this gene is expressed adult in brain, liver and whole detected using ISH is stages 13 , type, alpha 1B subunit in the following tissues: Embryo organism and this
    [Show full text]
  • Genomeposter2009.Pdf
    Fold HumanSelected Genome Genes, Traits, and Landmarks Disorders www.ornl.gov/hgmis/posters/chromosome genomics.energy.
    [Show full text]
  • Primary Active Ca2+ Transport Systems in Health and Disease
    Downloaded from http://cshperspectives.cshlp.org/ on September 27, 2021 - Published by Cold Spring Harbor Laboratory Press Primary Active Ca2+ Transport Systems in Health and Disease Jialin Chen,1 Aljona Sitsel,1 Veronick Benoy,1 M. Rosario Sepúlveda,2,3 and Peter Vangheluwe1,3 1Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, 3000 Leuven, Belgium 2Department of Cell Biology, Faculty of Sciences, University of Granada, 18071 Granada, Spain Correspondence: [email protected] Calcium ions (Ca2+) are prominent cell signaling effectors that regulate a wide variety of cellular processes. Among the different players in Ca2+ homeostasis, primary active Ca2+ transporters are responsible for keeping low basal Ca2+ levels in the cytosol while establishing steep Ca2+ gradients across intracellular membranes or the plasma membrane. This review summarizes our current knowledge on the three types of primary active Ca2+-ATPases: the sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) pumps, the secretory pathway Ca2+- ATPase (SPCA) isoforms, and the plasma membrane Ca2+-ATPase (PMCA) Ca2+-transporters. We first discuss the Ca2+ transport mechanism of SERCA1a, which serves as a reference to describe the Ca2+ transport of other Ca2+ pumps. We further highlight the common and unique features of each isoform and review their structure–function relationship, expression pattern, regulatory mechanisms, and specific physiological roles. Finally, we discuss the increasing genetic and in vivo evidence that links the dysfunction of specific Ca2+-ATPase isoforms to a broad range of human pathologies, and highlight emerging therapeutic strate- gies that target Ca2+ pumps. a2+ signaling is crucial for many physiolog- cus on the primary active Ca2+-transporters or Cical processes and is dysregulated in a mul- Ca2+-ATPases, which are responsible for keep- titude of pathological conditions.
    [Show full text]
  • GENETIC TESTING REQUISITION Please Ship All NON-PRENATAL
    GENETIC TESTING REQUISITION 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Attention Patient: Please visit your nearest LifeLabs or CML Healthcare Patient Service Centre for sample collection CONTRACT # LL: K012-01/ CML: CEN Report to Physician Billing # LifeLabs Demographic Label Ordering Physician Name Physician Signature: Ordering Physician Address: Tel: Fax: Address & Contact Info: Copy to (name & contact info): Name: Contact: Bill to Contract # K012-01 (patient does not pay at time of collection) Patient Gender: (M/F) Patient Name (Last, First): Patient DOB: (YYYY/MM/DD) Patient Address: Patient Health Card: Patient Telephone: Please ship all NON-PRENATAL samples to: LifeLabs · Attn CDS Department • 100 International Boulevard• Toronto ON• M9W6J6 TEST REQUESTED LL TR # / CML TC# □ Genetic Test - Blood Sample 2 x 4mL EDTA 4005 □ Genetic Test (Pediatric) - Blood Sample 1 x 2mL EDTA 4008 □ Genetic Test - Other Sample Type 4014 PRENATAL SAMPLES: Please ship directly to CENTOGENE. Date Blood Collected (YYYY/MM/DD): ___________ Time Blood Collected (HH:MM)) :________ Collector Name: - ___________________ GENETIC TESTING CONSENT I understand that a DNA specimen will be sent to LifeLabs for genetic testing. My physician has told me about the condition(s) being tested and its genetic basis. I am aware that correct information about the relationships between my family members is important. I agree that my specimen and personal health information may be sent to Centogene AG at their lab in Germany (address below). To ensure accurate testing, I agree that the results of any genetic testing that I have had previously completed by Centogene AG may be shared with LifeLabs.
    [Show full text]