Aspectos respiratórios da doença de Pompe: Relato de caso
Respiratory aspects of Pompe disease: Case report
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Moura, Thiago A. Jabuonski, Veronica M. Amado" "autores" => array:3 [ 0 => array:3 [ "nombre" => "Ewandro L.R." "apellidos" => "Moura" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0005" ] ] ] 1 => array:3 [ "nombre" => "Thiago A." "apellidos" => "Jabuonski" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0005" ] ] ] 2 => array:4 [ "nombre" => "Veronica M." "apellidos" => "Amado" "email" => array:1 [ 0 => "veronicaamado@uol.com.br" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">2</span>" "identificador" => "aff0010" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">¿</span>" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Alunos do curso de graduação em Medicina da Faculdade de Medicina, Universidade de Brasília, Brasília-DF" "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Professor Adjunto do Departamento de Clínica Médica, Faculdade de Medicina, Universidade de Brasília – UnB, Brasília-DF" "etiqueta" => "<span class="elsevierStyleSup">2</span>" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Correspondência: SQS-315 Bl-A Ap-201; CEP: 70.384-010. Brasília –DF." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Respiratory aspects of Pompe disease: Case report" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2007-04-24" "fechaAceptado" => "2007-09-12" "PalabrasClave" => array:2 [ "pt" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palavras-chave" "identificador" => "xpalclavsec159430" "palabras" => array:5 [ 0 => "Doença de depósito de glicogénio tipo II" 1 => "doença de Pompe" 2 => "miopatia" 3 => "insuficiência respiratória" 4 => "ventilação mecânica" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key-words" "identificador" => "xpalclavsec159431" "palabras" => array:6 [ 0 => "Glycogen storage disease type II" 1 => "Pompe disease" 2 => "myopathy" 3 => "respiratory failure" 4 => "ventilation" 5 => "mechanical" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "pt" => array:2 [ "titulo" => "Resumo" "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Relatamos o caso de doente feminina, 38 anos, com diagnóstico de doença de Pompe há oito anos. Há cinco anos vinha com queixas respiratórias, evoluindo com insuficiência respiratória crónica. Em uso de CPAP (<span class="elsevierStyleItalic">continuous positive airway pressure</span>) nocturno há um ano, apresentava agravamento clínico progressivo. Veio encaminhada ao Hospital Universitário de Brasília, com descompensação respiratória e <span class="elsevierStyleItalic">cor pulmonale</span>. Iniciou-se ventilação não invasiva com dois níveis de pressões (VNI) e realizou-se polissonografia, que demonstrou a necessidade do ajuste de frequência respiratória associada aos ajustes das pressões para adequação da ventilação durante o sono. Evoluiu com melhora importante após uso da VNI</p>" ] "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">We report the case of a 38 years-old female patient with Pompe disease, diagnosed eight years ago. Respiratory complaints appeared five years ago progressing to chronic respiratory failure. Nocturnal CPAP (continuous positive airway pressure) was prescribed last year, presenting progressive clinical worsening. She was referred to Hospital Universitário de Brasília, on account of respiratory failure and cor pulmonale. Thus, she began non-invasive ventilation (NIV) with bi-level positive airways pressure, and a polysomnography showed the need of spontaneous/timed mode associated with adjustments in breathing pressures to improve ventilation during sleep. There was significant clinical improvement after NIV support was established</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografia" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:11 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Alpha-Glucosidase deficiency in generalized glycogen storage disease (Pompe's disease)" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "H.G. Hers" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Biochem J" "fecha" => "1963" "volumen" => "86" "paginaInicial" => "11" "paginaFinal" => "16" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/13954110" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib2" "etiqueta" => "2." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "H.M. Van den Hout" 1 => "W. Hop" 2 => "O.P. Van Diggelen" 3 => "J.A. Smeitink" 4 => "G.P. Smit" 5 => "B.T. Poll-The" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:7 [ "tituloSerie" => "Pediatrics" "fecha" => "2003" "volumen" => "112" "numero" => "2" "paginaInicial" => "332" "paginaFinal" => "340" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12897283" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib3" "etiqueta" => "3." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease" "autores" => array:1 [ 0 => array:3 [ "colaboracion" => "Infantile-onset Pompe Disease Natural History Study Group" "etal" => false "autores" => array:6 [ 0 => "P. Kishnani" 1 => "W. Hwu" 2 => "H. Mandel" 3 => "M. Nicolino" 4 => "F. Yong" 5 => "D. 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Gorlinger" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.nmd.2004.10.009" "Revista" => array:7 [ "tituloSerie" => "Neuromuscul Disord" "fecha" => "2005" "volumen" => "15" "numero" => "1" "paginaInicial" => "24" "paginaFinal" => "31" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/15639117" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "pt" "url" => "/21735115/0000001400000001/v1_201305151449/S2173511509702507/v1_201305151449/pt/main.assets" "Apartado" => array:4 [ "identificador" => "9550" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Case Report/Caso Clínico" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/21735115/0000001400000001/v1_201305151449/S2173511509702507/v1_201305151449/pt/main.pdf?idApp=UINPBA00004E&text.app=https://journalpulmonology.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173511509702507?idApp=UINPBA00004E" ]
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ISSN: 21735115Original language: Portuguese
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