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        "resumen" => "<p id="spar0055" class="elsevierStyleSimplePara elsevierViewall">A discinesia ciliar prim&#225;ria &#233; uma doen&#231;a gen&#233;tica e clinicamente heterog&#233;nea&#44; cuja patog&#233;nese assenta em compromisso da estrutura e fun&#231;&#227;o ciliares&#46;</p><p id="spar0160" class="elsevierStyleSimplePara elsevierViewall">Cursa habitualmente com infec&#231;&#245;es respirat&#243;rias recorrentes&#44; infertilidade e ainda <span class="elsevierStyleItalic">situs inversus</span> total em cerca de metade dos doentes&#46;</p><p id="spar0065" class="elsevierStyleSimplePara elsevierViewall">Dada a raridade e heterogeneidade fenot&#237;pica desta patologia o seu diagn&#243;stico implica frequentemente um elevado &#237;ndice de suspei&#231;&#227;o&#46;</p><p id="spar0070" class="elsevierStyleSimplePara elsevierViewall">Com este artigo os autores procuraram rever os aspectos fundamentais relativos &#224; etiopatog&#233;nese&#44; quadro cl&#237;nico e abordagens diagn&#243;stica e terap&#234;utica da discinesia ciliar prim&#225;ria&#44; contextualizando-os na discuss&#227;o de tr&#234;s casos cl&#237;nicos&#46;</p><p id="spar0075" class="elsevierStyleSimplePara elsevierViewall">Descrevem-se tr&#234;s doentes cujo quadro cl&#237;nico inaugural foi marcado por s&#237;ndroma de dificuldade respirat&#243;ria neonatal associada&#44; em dois doentes&#44; a <span class="elsevierStyleItalic">situs inversus</span> total&#46; A evolu&#231;&#227;o cl&#237;nica subsequente cursou com sintomatologia respirat&#243;ria em dois doentes &#40;tosse produtiva cr&#243;nica num doente e epis&#243;dios recorrentes de pneumonia e sibil&#226;ncia noutro&#41; e atingimento do aparelho respirat&#243;rio superior nos tr&#234;s&#46; &#192; data do diagn&#243;stico de discinesia ciliar prim&#225;ria&#44; os doentes apresentavam idades distintas &#40;8 meses&#44; 5 e 12 anos&#41;&#44; sendo que os dois doentes com idades de diagn&#243;stico mais tardias apresentavam nessa altura compromisso funcional respirat&#243;rio do tipo obstrutivo&#46; Os autores discutem os diferentes padr&#245;es de apresenta&#231;&#227;o cl&#237;nica&#44; a abordagem terap&#234;utica e a evolu&#231;&#227;o cl&#237;nica subsequente&#44; os factores potencialmente implicados no diagn&#243;stico tardio e as suas repercuss&#245;es progn&#243;sticas&#46; O objectivo primordial &#233; alertar para manifesta&#231;&#245;es cl&#237;nicas precoces e&#47;ou frequentes de discinesia ciliar prim&#225;ria&#44; procurando deste modo influenciar o progn&#243;stico pela melhoria do reconhecimento precoce desta patologia&#46;</p>"
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Caso clínico
Discinesia ciliar primária revisitada: A propósito de três casos clínicos
Primary ciliary dyskinesia revisited: Based on three clinical reports
Joana Fermeiro1, Teresa Bandeira2, Luísa Lobo3, Luísa Pereira2,
Corresponding author
mluisafpereira@gmail.com

Correspondência: Departamento da Criança e da Família do Hospital de Santa Maria, Avenida Professor Egas Moniz, 1649-035 Lisboa.
, Doutor Paulo Magalhães Ramalho4
1 Interna do Internato Complementar de Pediatria – Centro Hospitalar Lisboa Norte, EPE
2 Assistente Hospitalar Graduada de Pediatria – Centro Hospitalar Lisboa Norte, EPE
3 Assistente Hospitalar Graduada de Radiologia – Centro Hospitalar Lisboa Norte, EPE
4 Unidade de Pneumologia Pediátrica, Cuidados Respiratórios Domiciliários e de Transição do HSM, Departamento da Criança e da Família do Hospital de Santa Maria – Centro Hospitalar Lisboa Norte, EPE
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        "resumen" => "<p id="spar0055" class="elsevierStyleSimplePara elsevierViewall">A discinesia ciliar prim&#225;ria &#233; uma doen&#231;a gen&#233;tica e clinicamente heterog&#233;nea&#44; cuja patog&#233;nese assenta em compromisso da estrutura e fun&#231;&#227;o ciliares&#46;</p><p id="spar0160" class="elsevierStyleSimplePara elsevierViewall">Cursa habitualmente com infec&#231;&#245;es respirat&#243;rias recorrentes&#44; infertilidade e ainda <span class="elsevierStyleItalic">situs inversus</span> total em cerca de metade dos doentes&#46;</p><p id="spar0065" class="elsevierStyleSimplePara elsevierViewall">Dada a raridade e heterogeneidade fenot&#237;pica desta patologia o seu diagn&#243;stico implica frequentemente um elevado &#237;ndice de suspei&#231;&#227;o&#46;</p><p id="spar0070" class="elsevierStyleSimplePara elsevierViewall">Com este artigo os autores procuraram rever os aspectos fundamentais relativos &#224; etiopatog&#233;nese&#44; quadro cl&#237;nico e abordagens diagn&#243;stica e terap&#234;utica da discinesia ciliar prim&#225;ria&#44; contextualizando-os na discuss&#227;o de tr&#234;s casos cl&#237;nicos&#46;</p><p id="spar0075" class="elsevierStyleSimplePara elsevierViewall">Descrevem-se tr&#234;s doentes cujo quadro cl&#237;nico inaugural foi marcado por s&#237;ndroma de dificuldade respirat&#243;ria neonatal associada&#44; em dois doentes&#44; a <span class="elsevierStyleItalic">situs inversus</span> total&#46; A evolu&#231;&#227;o cl&#237;nica subsequente cursou com sintomatologia respirat&#243;ria em dois doentes &#40;tosse produtiva cr&#243;nica num doente e epis&#243;dios recorrentes de pneumonia e sibil&#226;ncia noutro&#41; e atingimento do aparelho respirat&#243;rio superior nos tr&#234;s&#46; &#192; data do diagn&#243;stico de discinesia ciliar prim&#225;ria&#44; os doentes apresentavam idades distintas &#40;8 meses&#44; 5 e 12 anos&#41;&#44; sendo que os dois doentes com idades de diagn&#243;stico mais tardias apresentavam nessa altura compromisso funcional respirat&#243;rio do tipo obstrutivo&#46; Os autores discutem os diferentes padr&#245;es de apresenta&#231;&#227;o cl&#237;nica&#44; a abordagem terap&#234;utica e a evolu&#231;&#227;o cl&#237;nica subsequente&#44; os factores potencialmente implicados no diagn&#243;stico tardio e as suas repercuss&#245;es progn&#243;sticas&#46; O objectivo primordial &#233; alertar para manifesta&#231;&#245;es cl&#237;nicas precoces e&#47;ou frequentes de discinesia ciliar prim&#225;ria&#44; procurando deste modo influenciar o progn&#243;stico pela melhoria do reconhecimento precoce desta patologia&#46;</p>"
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        "resumen" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Primary ciliary dyskinesia is a genetically and clinically heterogeneous disorder&#46; Its pathogenesis reflects structural and functional compromise of the cilia&#46;</p><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Common clinical manifestations include recurrent upper and lower respiratory tract infections and infertility&#44; as well as <span class="elsevierStyleItalic">situs inversus totalis</span> in half of the affected patients&#46;</p><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Besides its rarity and phenotypic heterogeneity its diagnosis usually requires a high suspicion index&#46; The main purpose of this paper is to review the pathogenesis&#44; clinical features&#44; diagnostic and therapeutic approaches of primary ciliary dyskinesia beyond the discussion of three clinical reports&#46;</p><p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">We report the cases of three patients all with a past history of neonatal respiratory distress and two with <span class="elsevierStyleItalic">situs inversus totalis</span>&#46; The subsequent clinical manifestations included lower airway symptoms in two patients &#40;chronic productive cough and recurrent pneumonia and wheezing&#41; and upper respiratory tract disease in all patients&#46; Age at primary ciliary dyskinesia diagnosis differed considerably among patients &#40;8 months&#44; 5 and 12 years&#41;&#46; The two patients with later diagnosis had already obstructive lung function compromise at the time of diagnosis&#46;</p><p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">The authors discuss the different clinical patterns presented&#44; therapeutic strategies and the clinical progression that ensued&#44; factors possibly implicated in late diagnosis and its prognostic consequences&#46;</p><p id="spar0060" class="elsevierStyleSimplePara elsevierViewall">The main goal is to emphasize early and&#47;or prevalent clinical features of primary ciliary dyskinesia in order to promote clinical awareness and early recognition of the disease&#46;</p>"
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Article information
ISSN: 21735115
Original language: Portuguese
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2024 July 34 32 66
2024 June 33 44 77
2024 May 37 32 69
2024 April 27 23 50
2024 March 33 28 61
2024 February 24 24 48
2024 January 25 32 57
2023 December 18 18 36
2023 November 22 21 43
2023 October 19 35 54
2023 September 18 27 45
2023 August 21 18 39
2023 July 16 21 37
2023 June 16 30 46
2023 May 24 23 47
2023 April 13 9 22
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Pulmonology

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