DOCSLIB.ORG

ICD-10-CM C&M September Diagnosis Agenda

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
ICD-10-CM C&M September Diagnosis Agenda ICD-10 Coordination and Maintenance Committee Meeting September 22-23, 2015 Diagnosis Agenda Welcome and announcements Donna Pickett, MPH, RHIA Co-Chair, ICD-10 Coordination and Maintenance Committee Diagnosis Topics: Contents Abscess of Anal and Rectal Regions ............................................................................... 12 Cheryl Bullock Garth H. Utter, MD MSc Patient Assessment and Outcome Committee Outcome of the American Association for the Surgery of Trauma Acquired Hydrocephalus ................................................................................................. 15 Donna Pickett Amblyopia Suspect .......................................................................................................... 16 Shannon McConnell Lamptey Michael X Repka, M.D., MBA Medical Director of Government Affairs American Academy of Ophthalmology Professor of Ophthalmology and Pediatrics Johns Hopkins University School of Medicine Amyotrophic Lateral Sclerosis (ALS) ............................................................................. 17 Donna Pickett Asthma Control Status: Controlled and Uncontrolled ..................................................... 18 Cheryl Bullock Elizabeth Matsu, MD, MHS American Academy of Allergy Asthma and Immunology (AAAAI) Professor of Pediatrics, Epidemiology, and Environmental Health Sciences at Johns Hopkins University Atrial Fibrillation ............................................................................................................. 20 David Berglund, MD Chronic hepatitis vs. hepatitis carrier............................................................................... 23 David Berglund, MD ICD-10 Coordination and Maintenance Committee Meeting September 22-23, 2015 Clostridium difficile ......................................................................................................... 25 Cheryl Bullock Andy DeRyke, Pharm.D. Scientific Affairs Strategy Lead for the Infectious Disease Scientific Directors, Merck Research Labs Contact with knife, sword or dagger ................................................................................ 26 Shannon McConnell Lamptey Encounter and Surveillance Codes for Implantable Subdermal Contraceptives ............. 27 Donna Pickett Encounter for examination of eyes and vision with abnormal findings .......................... 28 Shannon McConnell Lamptey Michael X Repka, M.D., MBA Medical Director of Government Affairs American Academy of Ophthalmology End Stage Heart Failure, Right Heart Failure, and Biventricular Heart Failure .............. 29 David Berglund, MD External Cause Codes for Work-related Musculoskeletal Disorders Caused by Ergonomic Hazards ............................................................................................................................ 34 Shannon McConnell Lamptey Alysha R. Meyers, PhD, CPE Epidemiologist, Centers for Disease Control and Prevention National Institute for Occupational Safety and Health Gingival recession ............................................................................................................ 37 Shannon McConnell Lamptey Heart Failure with Reduced Ejection Fraction, and with Normal Ejection Fraction ....... 38 David Berglund, MD Hepatic Encephalopathy .................................................................................................. 39 Shannon McConnell Lamptey Joe Harper, PharmD Senior Director, Medical Affairs Valeant Pharmaceuticals North America LLC High Output Heart Failure ............................................................................................... 41 David Berglund, MD Hypertension in Pregnancy .............................................................................................. 42 Traci Ramirez Hypophosphatasia ............................................................................................................ 44 Donna Pickett Infection Following a Procedure ...................................................................................... 46 Cheryl Bullock Garth H. Utter, MD MSc Patient Assessment and Outcome Committee Outcome of the American Association for the Surgery of Trauma Inflammatory Disorders of Breast ................................................................................... 48 Shannon McConnell Lamptey Garth H. Utter, MD MSc Patient Assessment and Outcome Committee Outcome of the American Association for the Surgery of Trauma Intestinal Obstruction ....................................................................................................... 49 2 ICD-10 Coordination and Maintenance Committee Meeting September 22-23, 2015 Shannon McConnell Lamptey Garth H. Utter, MD MSc Patient Assessment and Outcome Committee Outcome of the American Association for the Surgery of Trauma Lysosomal Acid Lipase (LAL) Deficiency...................................................................... 51 Donna Pickett Mediastinitis ..................................................................................................................... 54 Shannon McConnell Lamptey Garth H. Utter, MD MSc Patient Assessment and Outcome Committee Outcome of the American Association for the Surgery of Trauma Megacolon ....................................................................................................................... 55 David Berglund, MD Non-Exudative AMD ....................................................................................................... 56 Shannon McConnell Lamptey Michael X Repka, M.D., MBA Medical Director of Government Affairs American Academy of Ophthalmology Observation and evaluation of newborns for suspected conditions ruled out ................. 58 Cheryl Bullock Proposal to change Excludes Designations for Epilepsy ................................................. 61 Cheryl Bullock Pulmonary Hypertension ................................................................................................. 62 David Berglund, MD David Platt, MD Bayer HealthCare Pharmaceuticals Risk Level for Dental Carries .......................................................................................... 66 Traci Ramirez Subarachnoid hemorrhage ............................................................................................... 67 David Berglund, MD Vascular Disorders of Intestine ........................................................................................ 68 Shannon McConnell Lamptey Garth H. Utter, MD MSc Patient Assessment and Outcome Committee Outcome of the American Association for the Surgery of Trauma ICD-10-CM TABULAR OF DISEASES - PROPOSED ADDENDA ........................... 71 ICD-10-CM INDEX OF DISEASES - PROPOSED ADDENDA .................................. 76 3 ICD-10 Coordination and Maintenance Committee Meeting September 22-23, 2015 ICD-10 TIMELINE A timeline of important dates in the ICD-10 process is described below: September 22 –23, 2015 ICD-10 Coordination and Maintenance Committee meeting. Those who wish to attend the ICD-10 Coordination and Maintenance Committee meeting must have registered for the meeting online by September 11, 2015. You must bring an official form of picture identification (such as a driver’s license) in order to be admitted to the building. October 2015 Webcast of the September 22–23, 2015 ICD-10 Coordination and Maintenance Committee meeting will be posted on the CMS webpage as follows: https://www.cms.gov/Medicare/Coding/ICD9ProviderDiagnosticCodes/I CD-9-CM-C-and-M-Meeting-Materials.html Summary report of the Diagnosis part of the September 22–23, 2015 ICD-10 Coordination and Maintenance Committee meeting report will be posted on NCHS homepage as follows: http://www.cdc.gov/nchs/icd/icd9cm_maintenance.htm October 1, 2015 ICD-10-CM/PCS codes go into effect along with ICD-10 MS- DRGs October 1, 2015 New and revised ICD-10-CM and ICD-10-PCS codes go into effect along with DRG changes. Final addendum from previous years are available on web pages as follows: Diagnosis addendum: http://www.cdc.gov/nchs/icd/icd10cm.htm Due to the partial code freeze there are no updates to ICD-10-CM for October 1, 2015. Procedure addendum: https://www.cms.gov/Medicare/Coding/ICD10/2016-ICD-10-PCS-and- GEMs.html October 16, 2015 Deadline for receipt of public comments on proposed new codes if any discussed at the September 22-23, 2015 ICD-10 Coordination and Maintenance Committee meetings for implementation on April 1, 2016. November 2015 Any new ICD-10 codes required to capture new technology that will be implemented on the following April 1 will be announced. Information on any new codes to be implemented April 1, 2016 will be posted on the following websites: http://www.cdc.gov/nchs/icd/icd10cm.htm 4 ICD-10 Coordination and Maintenance Committee Meeting September 22-23, 2015 https://www.cms.gov/Medicare/Coding/ICD10/2016-ICD-10-PCS-and- GEMs.html November 13, 2015 Deadline for receipt of public comments on proposed new codes and revisions discussed at the September 22-23, 2015 ICD-10 Coordination and Maintenance Committee meetings for implementation on October 1, 2016. January 15, 2016 Deadline for requestors: Those members of the public requesting that topics be discussed at the March 9–10, 2016 ICD-10 Coordination and Maintenance Committee meeting must have their requests submitted to CMS for procedures and NCHS for diagnoses by this date. February 2016 Tentative agenda for the Procedure part of the March 9, 2016 ICD-10 Coordination and Maintenance Committee meeting posted on CMS
Load more

Recommended publications
  • Lysosomal Acid Lipase Deficiency Lipid Insights December 9, 2013
    Lysosomal Acid Lipase Deficiency Lipid Insights December 9, 2013 Daniel J. Rader, MD LAL Deficiency . History . Pathophysiology and genetic epidemiology . Liver disease . Dyslipidemia and atherosclerosis . Diagnostic considerations . Therapeutic considerations . Summary Biology of Lysosomal Acid Lipase LDL particle lysosome Free cholesterol and free fatty acids nucleus Hepatocyte Lysosomal Acid Lipase (LAL) Deficiency: A single disease, with marked clinical heterogeneity LAL Deficiency is sometimes called: . Wolman disease (infantile presentation with growth failure) . Cholesteryl Ester Storage Disease or CESD (LAL deficiency presentation in children and adults) . Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 . Acid Lipase Disease . Cholesteryl Ester Hydrolase Deficiency Storage Disease . LIPA Deficiency LAL Deficiency . History . Pathophysiology and genetic epidemiology . Liver disease . Dyslipidemia and atherosclerosis . Diagnostic considerations . Therapeutic considerations . Summary A brief history: The first phenotypic descriptions . Abramov, Shorr, and Wolman, 1956: “Generalized xanthomatosis with calcified adrenals” (“Wolman” disease) . Fredrickson, 1963: “Cholesterol ester storage disease” – “…likely a specific hepatic defect in cholesterol ester metabolism.” . Patrick and Lake : “Deficiency of an acid lipase in Wolman’s disease”, Nature, 1969 . Burke and Schubert : “Deficient activity of hepatic acid lipase in cholesterol ester storage disease”, Science, 1972 . Cortner et al: “Genetic variation of lysosomal acid lipase”, Pediatric Research, 1976 . Goldstein, et al: “Role of lysosomal acid lipase in the metabolism of plasma Low density lipoprotein,” JBC, 1975 . Anderson, et al: Cloning of the lysosomal acid lipase cDNA, JBC, 1991 . Anderson, et al: Mutations at the lysosomal acid cholesterol esterase gene locus in Wolman disease. Proc Natl Acad Sci USA, 1994 . Klima H, et al: “A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.” J Clin Invest, 1993.
    [Show full text]
  • Pharmacy Medical Necessity Guidelines: Kanuma™ (Sebelipase Alfa) Effective: April 13, 2021
    Pharmacy Medical Necessity Guidelines: Kanuma™ (sebelipase alfa) Effective: April 13, 2021 Prior Authorization Required √ Type of Review – Care Management Not Covered Type of Review – Clinical Review √ PRECERT Pharmacy (RX) or Medical (MED) Benefit MED Department to Review /MM These pharmacy medical necessity guidelines apply to the following: Fax Numbers: Commercial Products Tufts Health Plan Commercial products – large group plans Commercial Products: Tufts Health Plan Commercial products – small group and individual plans PRECERT: 617.972.9409 Tufts Health Freedom Plan products – large group plans Tufts Health Freedom Plan products – small group plans Tufts Health Public • CareLinkSM – Refer to CareLink Procedures, Services and Items Requiring Prior Authorization Plans Products: MM: 888.415.9055 Tufts Health Public Plans Products Tufts Health Direct – A Massachusetts Qualified Health Plan (QHP) (a commercial product) Tufts Health Together – MassHealth MCO Plan and Accountable Care Partnership Plans Tufts Health RITogether – A Rhode Island Medicaid Plan Note: This guideline does not apply to Medicare Members (includes dual eligible Members). OVERVIEW FOOD AND DRUG ADMINISTRATION-APPROVED INDICATIONS Kanuma (sebelipase) is a hydrolytic lysosomal cholesteryl ester and triacylglycerol-specific enzyme indicated for the treatment of patients with a diagnosis of Lysosomal Acid Lipase (LAL) deficiency. Lysosomal Acid Lipase deficiency is an autosomal recessive lysosomal storage disorder characterized by a genetic defect (mutation in the LIPA gene) resulting in a marked decrease or loss in activity of the LAL enzyme. The primary site of action of the LAL enzyme is the lysoso me, where the enzyme normally causes the breakdown of lipid particles. Deficient LAL enzyme activity results in progressive complications due to the lysosomal accumulation of cholesteryl esters and triglycerides in multiple organs, including the liver, spleen, intestine, and the walls of blood vessels.
    [Show full text]
  • Kanuma (Sebelipase Alfa) Original Effective Date: 11/21/2016 04/24 Policy Number: MCP-289 Revision Date(S)
    Subject: Kanuma (sebelipase alfa) Original Effective Date: 11/21/2016 04/24 Policy Number: MCP-289 Revision Date(s): Review Date(s): 12/15/2016; 9/19/2017, 9/13/2018 MCPC Approval Date: 9/13/2018 DISCLAIMER This Molina Clinical Policy (MCP) is intended to facilitate the Utilization Management process. It expresses Molina's determination as to whether certain services or supplies are medically necessary, experimental, investigational, or cosmetic for purposes of determining appropriateness of payment. The conclusion that a particular service or supply is medically necessary does not constitute a representation or warranty that this service or supply is covered (i.e., will be paid for by Molina) for a particular member. The member's benefit plan determines coverage. Each benefit plan defines which services are covered, which are excluded, and which are subject to dollar caps or other limits. Members and their providers will need to consult the member's benefit plan to determine if there are any exclusion(s) or other benefit limitations applicable to this service or supply. If there is a discrepancy between this policy and a member's plan of benefits, the benefits plan will govern. In addition, coverage may be mandated by applicable legal requirements of a State, the Federal government or CMS for Medicare and Medicaid members. CMS's Coverage Database can be found on the CMS website. The coverage directive(s) and criteria from an existing National Coverage Determination (NCD) or Local Coverage Determination (LCD) will supersede the contents of this MCP document and provide the directive for all Medicare members.
    [Show full text]
  • ICD-9-CM C&M March 2011 Diagnosis Agenda
    ICD-10 Coordination and Maintenance Committee Meeting September 22-23, 2015 Diagnosis Agenda Welcome and announcements Donna Pickett, MPH, RHIA Co-Chair, ICD-10 Coordination and Maintenance Committee Diagnosis Topics: Contents Abscess of Anal and Rectal Regions .............................................................................. 12 Cheryl Bullock Garth H. Utter, MD MSc Patient Assessment and Outcome Committee Outcome of the American Association for the Surgery of Trauma Acquired Hydrocephalus ................................................................................................ 15 Donna Pickett Amblyopia Suspect ........................................................................................................ 16 Shannon McConnell Lamptey Michael X Repka, M.D., MBA Medical Director of Government Affairs American Academy of Ophthalmology Professor of Ophthalmology and Pediatrics Johns Hopkins University School of Medicine Amyotrophic Lateral Sclerosis (ALS) .......................................................................... 17\ Donna Pickett Asthma Control Status: Controlled and Uncontrolled .................................................... 18 Cheryl Bullock Elizabeth Matsu, MD, MHS American Academy of Allergy Asthma and Immunology (AAAAI) Professor of Pediatrics, Epidemiology, and Environmental Health Sciences at Johns Hopkins University Atrial Fibrillation ........................................................................................................... 20 David Berglund, MD Chronic hepatitis
    [Show full text]
  • WO 2015/051214 Al 9 April 2015 (09.04.2015) 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 2015/051214 Al 9 April 2015 (09.04.2015) W P O P C T (51) International Patent Classification: (81) Designated States (unless otherwise indicated, for every C07K 14/705 (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 14/058967 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, 3 October 2014 (03. 10.2014) 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: 61/886,137 3 October 201 3 (03. 10.2013) US (84) Designated States (unless otherwise indicated, for every 61/903,485 13 November 2013 (13. 11.2013) US kind of regional protection available): ARIPO (BW, GH, 61/952,906 14 March 2014 (14.03.2014) us GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, 62/052,139 18 September 2014 (18.09.2014) us TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, (71) Applicant: MODERNA THERAPEUTICS, INC.
    [Show full text]
  • WO 2016/164762 Al 13 October 2016 (13.10.2016) 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 2016/164762 Al 13 October 2016 (13.10.2016) P O P C T (51) International Patent Classification: (81) Designated States (unless otherwise indicated, for every C07K 14/705 (2006.01) C12N 15/11 (2006.01) kind of national protection available): AE, AG, AL, AM, C12N 15/09 (2006.01) C12N 15/12 (2006.01) AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, (21) International Application Number: DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, PCT/US20 16/026703 HN, HR, HU, ID, IL, ΓΝ , IR, IS, JP, KE, KG, KN, KP, KR, (22) International Filing Date: KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, 8 April 2016 (08.04.2016) MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, (25) Filing Language: English SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, (26) Publication Language: English TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. (30) Priority Data: (84) Designated States (unless otherwise indicated, for every 62/144,895 8 April 2015 (08.04.2015) US kind of regional protection available): ARIPO (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, (71) Applicant: MODERNA THERAPEUTICS, INC.
    [Show full text]
  • Health and Medicine Volume 4
    The Eyes iii THE FACTS ON FILE ENCYCLOPEDIA OF HEALTH AND MEDICINE IN FOUR VOLUMES: VOLUME 4 An Amaranth Book iv The Eyes To your health! The information presented in The Facts On File Encyclopedia of Health and Medicine is provided for research purposes only and is not intended to replace consultation with or diagnosis and treatment by medical doctors or other qualified experts. Readers who may be experiencing a condition or disease described herein should seek medical attention and not rely on the information found here as medical advice. The Facts On File Encyclopedia of Health and Medicine in Four Volumes: Volume 4 Copyright © 2007 by Amaranth Illuminare All rights reserved. No part of this book may be reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, or by any information storage or retrieval systems, without permission in writing from the publisher. For information contact: Facts On File, Inc. An imprint of Infobase Publishing 132 West 31st Street New York NY 10001 Produced by Amaranth Illuminare PO Box 573 Port Townsend WA 98368 Library of Congress Cataloging-in-Publication Data The Facts on File encyclopedia of health and medicine / Amaranth Illuminare and Deborah S. Romaine. p. ; cm. “An Amaranth book.” Includes index. ISBN 0-8160-6063-0 (hc : alk. paper) 1. Medicine—Encyclopedias. 2. Health—Encyclopedias. [DNLM: 1. Medicine—Encyclopedias—English. 2. Physiological Processes—Encyclopedias—English. WB 13 R842f 2006] I. Title: Encyclopedia of health and medicine. II. Romaine, Deborah S., 1956- III. Facts on File, Inc. IV. Title. R125.R68 2006 610.3—dc22 2005027679 Facts On File books are available at special discounts when purchased in bulk quantities for businesses, associations, institutions, or sales promotions.
    [Show full text]
  • ICD-9-CM C&M March 2011 Diagnosis Agenda
    ICD-10 Coordination and Maintenance Committee Meeting September 22-23, 2015 Diagnosis Agenda Welcome and announcements Donna Pickett, MPH, RHIA Co-Chair, ICD-10 Coordination and Maintenance Committee Diagnosis Topics: Contents Abscess of Anal and Rectal Regions ............................................................................... 12 Cheryl Bullock Garth H. Utter, MD MSc Patient Assessment and Outcome Committee Outcome of the American Association for the Surgery of Trauma Acquired Hydrocephalus ................................................................................................. 15 Donna Pickett Amblyopia Suspect .......................................................................................................... 16 Shannon McConnell Lamptey Michael X Repka, M.D., MBA Medical Director of Government Affairs American Academy of Ophthalmology Professor of Ophthalmology and Pediatrics Johns Hopkins University School of Medicine Amyotrophic Lateral Sclerosis (ALS) ............................................................................ 17\ Donna Pickett Asthma Control Status: Controlled and Uncontrolled ..................................................... 18 Cheryl Bullock Elizabeth Matsu, MD, MHS American Academy of Allergy Asthma and Immunology (AAAAI) Professor of Pediatrics, Epidemiology, and Environmental Health Sciences at Johns Hopkins University Atrial Fibrillation ............................................................................................................. 20 David Berglund, MD Chronic
    [Show full text]
  • Universidade Federal De Santa Catarina Centro De Ciências Da Saúde Programa De Pós-Graduação Em Ciências Médicas
    UNIVERSIDADE FEDERAL DE SANTA CATARINA CENTRO DE CIÊNCIAS DA SAÚDE PROGRAMA DE PÓS-GRADUAÇÃO EM CIÊNCIAS MÉDICAS CAMILA DA ROSA WITECK Características clínicas e laboratoriais de pacientes pediátricos com deficiência de lipase ácida: Scoping Review. Florianópolis 2021 CAMILA DA ROSA WITECK Características clínicas e laboratoriais de pacientes pediátricos com deficiência de lipase ácida: Scoping Review. Dissertação submetida ao Programa de Ciências Médicas da Universidade Federal de Santa Catarina para a obtenção do título de mestre em ciências médicas Orientadora: Profa. Dra. Maria Marlene de Souza Pires Florianópolis 2021 CAMILA DA ROSA WITECK Características clinicas e laboratoriais de pacientes pediátricos com deficiência de lipase ácida : Scoping Review. O presente trabalho em nível de mestrado foi avaliado e aprovado por banca examinadora composta pelos seguintes membros: Prof.(a)Maria Marlene de Souza Pires, Dr.(a) Universidade Federal de Santa Catarina Prof.(a) Suely Grosseman , Dr.(a) Universidade Federal de Santa Catarina Prof.(a) Priscyla Walesca Targino de Azevedo Simões, Dr.(a) Universidade Federal do ABC Certificamos que esta é a versão original e final do trabalho de conclusão que foi julgado adequado para obtenção do título de mestre em Ciências Médicas. ____________________________ Profa. Katia Lin, Dra. Coordenação do Programa de Pós-Graduação ____________________________ Profa. Maria Marlene de Souza Pires, Dra. Orientadora Florianópolis 2021 A toda minha família, a base sólida do meu crescimento pessoal e profissional. AGRADECIMENTOS À Dra. Maria Marlene de Souza Pires, orientadora deste trabalho, pela dedicação e apoio. Sua importância em minha vida acadêmica e pessoal iniciou-se na graduação de Medicina pelas brilhantes observações, competência no âmbito profissional e acadêmico.
    [Show full text]
  • Vol. 19, No. 2, 2018 Make.Pmd
    J MEDICINE 2018; 19: 130-132 Cholesteryl Ester Storage Disease – A Rare Presentation MADHABI KARMAKER,1 SARMIN AKTER,2 AHMEDUL KABIR,3 KHAN ABUL KALAM AZAD,4 ABID HOSSAIN MOLLAH5 Abstract: Cholesteryl Ester Storage Disease (CESD) is a rare genetic disease characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to deficiency of Lysosomal Acid Lipase (LAL/ LIPA) enzyme, which is essential for hydrolysis of triglycerides and cholesterol esters in lysosomes.1 The diagnosis is indicated by abnormal lipid profile, deposition of cholesterol crystals in internal organs and reduced acid lipase activity in leukocytes. Here we report a 16 year-old girl who presented with repeated episodes of hepatic encephalopathy with onset of first symptom at 9 years of age with history of consanguinity of marriage between parents. On examination, we found hepatosplenomegaly. Laboratory examination showed abnormal lipid profile and reduced activity of acid lipase enzyme in leukocytes. After exclusion of other possible pathological conditions and on the basis of lab criteria, we diagnose the case as Cholesteryl Ester Storage Disease (CESD). KKKeeeywords: Cholesteryl Ester Storage Disease (CESD), cholesteryl esters, triglycerides, Lysosomal Acid Lipase. DOI: http://dx.doi.org/10.3329/jom.v19i2.37235 Introduction: symptoms and may go undiagnosed until adulthood. CESD CESD is inherited as an autosomal recessive condition 1 So is characterized by alterations of blood lipoprotein profile; parents who are close relatives (consanguineous) have a patients present with hypercholesterolemia, higher chance to have children with a recessive genetic hypertriglyceridaemia, HDL deficiency with abnormal lipid disorder. CESD affects males and females in equal numbers.2 deposition in many organs.
    [Show full text]
  • Kasenra Sebelipase Alfa MCP289
    Subject: Kanuma (sebelipase alfa) Original Effective Date: 11/21/2016 Policy Number: MCP-289 Revision Date(s): Review Date(s): DISCLAIMER This Molina Clinical Policy (MCP) is intended to facilitate the Utilization Management process. It expresses Molina's determination as to whether certain services or supplies are medically necessary, experimental, investigational, or cosmetic for purposes of determining appropriateness of payment. The conclusion that a particular service or supply is medically necessary does not constitute a representation or warranty that this service or supply is covered (i.e., will be paid for by Molina) for a particular member. The member's benefit plan determines coverage. Each benefit plan defines which services are covered, which are excluded, and which are subject to dollar caps or other limits. Members and their providers will need to consult the member's benefit plan to determine if there are any exclusion(s) or other benefit limitations applicable to this service or supply. If there is a discrepancy between this policy and a member's plan of benefits, the benefits plan will govern. In addition, coverage may be mandated by applicable legal requirements of a State, the Federal government or CMS for Medicare and Medicaid members. CMS's Coverage Database can be found on the CMS website. The coverage directive(s) and criteria from an existing National Coverage Determination (NCD) or Local Coverage Determination (LCD) will supersede the contents of this MCP document and provide the directive for all Medicare members. SUMMARY OF EVIDENCE/POSITION This policy addresses the coverage of Kanuma (sebelipase alfa), a hydrolytic lysosomal cholesteryl ester and triacylglycerol-specific enzyme administered intravenously for the treatment of the rare disease lysosomal acid lipase deficiency (LAL-D), also known as Wolman disease (WD) and cholesteryl ester storage disease (CESD).
    [Show full text]