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Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.
Best, Sunayna; Shoemark, Amelia; Rubbo, Bruna; Patel, Mitali P; Fassad, Mahmoud R; Dixon, Mellisa; Rogers, Andrew V; Hirst, Robert A; Rutman, Andrew; Ollosson, Sarah; Jackson, Claire L; Goggin, Patricia; Thomas, Simon; Pengelly, Reuben; Cullup, Thomas; Pissaridou, Eleni; Hayward, Jane; Onoufriadis, Alexandros; O'Callaghan, Christopher; Loebinger, Michael R; Wilson, Robert; Chung, Eddie Mk; Kenia, Priti; Doughty, Victoria L; Carvalho, Julene S; Lucas, Jane S; Mitchison, Hannah M; Hogg, Claire.
Afiliação
  • Best S; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, UK.
  • Shoemark A; PCD Diagnostic Team, Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London, UK.
  • Rubbo B; PCD Diagnostic Team, Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London, UK.
  • Patel MP; School of Medicine, University of Dundee, Dundee, UK.
  • Fassad MR; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Dixon M; Clinical and Experimental Sciences Academic Unit, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Rogers AV; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Hirst RA; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, UK.
  • Rutman A; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, UK.
  • Ollosson S; Human Genetics Department, Alexandria University, Alexandria, Egypt.
  • Jackson CL; PCD Diagnostic Team, Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London, UK.
  • Goggin P; PCD Diagnostic Team, Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London, UK.
  • Thomas S; Host Defence Unit, Royal Brompton and Harefield NHS Trust, London, UK.
  • Pengelly R; Department of Infection, Immunity and Inflammation, Centre for PCD Diagnosis and Research, RKCSB, University of Leicester, Leicester, UK.
  • Cullup T; Department of Infection, Immunity and Inflammation, Centre for PCD Diagnosis and Research, RKCSB, University of Leicester, Leicester, UK.
  • Pissaridou E; PCD Diagnostic Team, Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London, UK.
  • Hayward J; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Onoufriadis A; Clinical and Experimental Sciences Academic Unit, Faculty of Medicine, University of Southampton, Southampton, UK.
  • O'Callaghan C; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Loebinger MR; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Wilson R; Clinical and Experimental Sciences Academic Unit, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Chung EM; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Kenia P; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Doughty VL; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, UK.
  • Carvalho JS; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Lucas JS; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK.
  • Mitchison HM; Population, Policy and Practice Programme, University College London (UCL) Great Ormond Street Institute of Child Health, London, UK.
  • Hogg C; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, UK.
Thorax ; 74(2): 203-205, 2019 02.
Article em En | MEDLINE | ID: mdl-30166424
ABSTRACT
Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated genotype-phenotype associations in PCD to facilitate risk predictions for cardiac and laterality defects. This retrospective cohort study of 389 UK patients with PCD found 51% had abnormal situs and 25% had CHD and/or laterality defects other than situs inversus totalis. Patients with biallelic mutations in a subset of nine PCD genes had normal situs. Patients with consanguineous parents had higher odds of situs abnormalities than patients with non-consanguineous parents. Patients with abnormal situs had higher odds of CHD and/or laterality defects.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Situs Inversus / Anormalidades Múltiplas / Transtornos da Motilidade Ciliar / Cardiopatias Congênitas Tipo de estudo: Etiology_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Thorax Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Situs Inversus / Anormalidades Múltiplas / Transtornos da Motilidade Ciliar / Cardiopatias Congênitas Tipo de estudo: Etiology_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Thorax Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido