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J-GLOBAL ID：201702226570725460   整理番号：17A1550215

白質ジストロフィー患者の予防と症候性ケアに関する修正された合意声明【Powered by NICT】

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

著者 (52件)： Adang Laura A. (Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Adang Laura A. (Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ,  Sherbini Omar (Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Ball Laura (Center for Translational Science, Children’s National Medical Center, Washington, DC, USA) ,  Ball Laura (Department of Physical Medicine and Rehabilitation, Children’s National Medical Center, Washington, DC, USA) ,  Bloom Miriam (Department of Pediatrics, Children’s National Medical Center, Washington, DC, USA) ,  Bloom Miriam (Complex Care Program, Children’s National Medical Center, Washington, DC, USA) ,  Darbari Anil (Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Children’s National Medical Center, Washington, DC, USA) ,  Amartino Hernan (Servicio de Neurologia Infantil, Hospital Universitario Austral, Buenos Aires, Argentina) ,  DiVito Donna (Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Eichler Florian (Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA) ,  Escolar Maria (Department of Pediatrics, Children’s Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, PA, USA) ,  Evans Sarah H. (Center for Translational Science, Children’s National Medical Center, Washington, DC, USA) ,  Evans Sarah H. (Department of Physical Medicine and Rehabilitation, Children’s National Medical Center, Washington, DC, USA) ,  Fatemi Ali (The Hugo W. Moser Research Institute, The Kennedy Krieger Institute, Baltimore, MD, USA) ,  Fraser Jamie (Rare Disease Institute, Children’s National Medical Center, Washington, DC, USA) ,  Hollowell Leslie (Complex Care Program, Children’s National Medical Center, Washington, DC, USA) ,  Jaffe Nicole (Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Joseph Christopher (The Hugo W. Moser Research Institute, The Kennedy Krieger Institute, Baltimore, MD, USA) ,  Karpinski Mary (Pediatric Multiple Sclerosis Center, Women and Children’s Hospital, Buffalo, NY, USA) ,  Keller Stephanie (Division of Pediatric Neurology, Emory University, Atlanta, GA, USA) ,  Maddock Ryan (Department of Pediatrics, Children’s National Medical Center, Washington, DC, USA) ,  Mancilla Edna (Division of Endocrinology and Diabetes, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Mancilla Edna (Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ,  McClary Bruce (The Hugo W. Moser Research Institute, The Kennedy Krieger Institute, Baltimore, MD, USA) ,  Mertz Jana (Autism Spectrum Disorders Center, Women and Children’s Hospital, Buffalo, NY, USA) ,  Morgart Kiley (Psychiatric Social Work Program, The Kennedy Krieger Institute, Baltimore, MD, USA) ,  Langan Thomas (Hunter James Kelly Research Institute, Buffalo, NY, USA) ,  Leventer Richard (Department of Paediatrics, Murdoch Children’s Research Institute, University of Melbourne, Melbourne, Australia) ,  Parikh Sumit (Neurogenetics, Neurologic Institute, Cleveland Clinic, Cleveland, OH, USA) ,  Pizzino Amy (Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Prange Erin (Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Renaud Deborah L. (Division of Child and Adolescent Neurology, Departments of Neurology and Pediatrics, Mayo Clinic, Rochester, MN, USA) ,  Rizzo William (Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA) ,  Shapiro Jay (The Hugo W. Moser Research Institute, The Kennedy Krieger Institute, Baltimore, MD, USA) ,  Suhr Dean (MLD Foundation, West Linn, OR, USA) ,  Suhr Teryn (MLD Foundation, West Linn, OR, USA) ,  Tonduti Davide (Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy) ,  Waggoner Jacque (Hunter’s Hope Foundation, Orchard Park, NY, USA) ,  Waldman Amy (Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Waldman Amy (Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ,  Wolf Nicole I. (Department of Child Neurology, VU University Medical Centre and Amsterdam Neuroscience, Amsterdam, The Netherlands) ,  Zerem Ayelet (E. Wolfson Medical Center, Tel Aviv, Israel) ,  Bonkowsky Joshua L. (Department of Pediatrics, Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA) ,  Bernard Genevieve (Department of Neurology and Neurosurgery, McGill University, Montreal, Canada) ,  Bernard Genevieve (Department of Pediatrics, McGill University, Montreal, Canada) ,  Bernard Genevieve (Department of Medical Genetics, Montreal Children’s Hospital, McGill University Health Center, Montreal, Canada) ,  Bernard Genevieve (Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada) ,  van Haren Keith (Department of Neurology, Lucile Packard Children’s Hospital and Stanford University School of Medicine, Stanford, CA, USA) ,  Vanderver Adeline (Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA) ,  Vanderver Adeline (Center for Translational Science, Children’s National Medical Center, Washington, DC, USA) ,  Vanderver Adeline (Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA)
資料名： Molecular Genetics and Metabolism  (Molecular Genetics and Metabolism)
巻： 122  号： 1-2  ページ： 18-32  発行年： 2017年 
JST資料番号： E0820A  ISSN： 1096-7192  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 白質ジストロフィーは中枢髄鞘形成の破壊や破壊をもたらす遺伝的疾患の広いクラスである。これらの疾患の基礎をなす機構は,不均一であるが,遺伝子診断に関係なく患者に影響する多くの一般的な症状である。これら小児の生活の快適性と品質は治癒的治療法に向けた努力を補完できることを第一目標である。本報告内で含まれる白質萎縮に起因する合併症の管理のためのシステムに基づく方法である。包括的で標準化されたケアアプローチを確立するために初期評価,一般的な医療問題の同定,および管理オプションを議論した。も白質萎縮を選択に関連した臨床課題に取り組んで,胆嚢病理と副腎不全など。,このレビューの範囲内で勧告は既存の研究とコンセンサス意見に依存しており,このユニークな遺伝的障害の症状の治療に根拠に基づく転帰に対する将来の研究の必要性を強調する。Copyright 2017 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【Powered by NICT】

シソーラス用語： 副腎機能低下 ,  快適性 ,  標準化 ,  遺伝 ,  遺伝病 ,  品質 ,  *患者 ,  胆嚢 ,  遺伝子診断 ,  治療法 ,  病理 ,  子供 ,  治癒
準シソーラス用語： 転帰 ,  ミエリン形成 , 【Automatic Indexing@JST】

著者キーワード (6件)： Leukodystrophy ,  コンセンサス ,  療法 ,  ケア ,  転帰 ,  保安

分類 (2件)： 神経系の疾患  (GN03000O) ,  先天性疾患・奇形一般  (GD03010V)

タイトルに関連する用語 (6件)： 白質ジストロフィー ,  患者 ,  予防 ,  症候 ,  合意 ,  声明