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Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School.
Farley, Hannah; Rubbo, Bruna; Bukowy-Bieryllo, Zuzanna; Fassad, Mahmoud; Goutaki, Myrofora; Harman, Katharine; Hogg, Claire; Kuehni, Claudia E; Lopes, Susana; Nielsen, Kim G; Norris, Dominic P; Reula, Ana; Rumman, Nisreen; Shoemark, Amelia; Wilkins, Hannah; Wisse, Agatha; Lucas, Jane S; Marthin, June K.
Afiliação
  • Farley H; 1MRC Harwell Institute, Harwell Campus, Oxfordshire, UK.
  • Rubbo B; Department of Physiology, Anatomy and Genetics, Parks Road, Oxford, Oxfordshire, UK.
  • Bukowy-Bieryllo Z; 3Primary Ciliary Dyskinesia Centre, NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Fassad M; 4Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
  • Goutaki M; 5Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Harman K; 6Department of Human Genetics, Medical Research Institute, Alexandria University, 165 El-Horreya Avenue El- Hadra, Alexandria, 21561 Egypt.
  • Hogg C; 7Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
  • Kuehni CE; 8Paediatric Respiratory Medicine, University Children's Hospital, University of Bern, Bern, Switzerland.
  • Lopes S; 9Royal Brompton Hospital, Sydney Street, London, UK.
  • Nielsen KG; 10Paediatric Respiratory Medicine, Imperial College, London, UK.
  • Norris DP; 11Department of Paediatrics, Royal Brompton Hospital, Sydney Street, London, UK.
  • Reula A; 7Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
  • Rumman N; 8Paediatric Respiratory Medicine, University Children's Hospital, University of Bern, Bern, Switzerland.
  • Shoemark A; 12CEDOC, Chronic Diseases Research Centre, NOVA Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal.
  • Wilkins H; Danish PCD & Child Centre, CF Centre Copenhagen, Paediatric Pulmonary Service, ERN Accredited, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark.
  • Wisse A; 1MRC Harwell Institute, Harwell Campus, Oxfordshire, UK.
  • Lucas JS; 14Department of Physiology, University of Valencia, Valencia, Spain.
  • Marthin JK; 15UCIM Departament, Instituto de Investigación Sanitaria Incliva, Valencia, Spain.
BMC Proc ; 12(Suppl 16): 64, 2018.
Article em En | MEDLINE | ID: mdl-30807620
ABSTRACT
Primary ciliary dyskinesia (PCD) is a chronic suppurative airways disease that is usually recessively inherited and has marked clinical phenotypic heterogeneity. Classic symptoms include neonatal respiratory distress, chronic rhinitis since early childhood, chronic otitis media, recurrent airway infections leading to bronchiectasis, chronic sinusitis, laterality defects with and without congenital heart disease including abnormal situs in approximately 50% of the cases, and male infertility. Lung function deteriorates progressively from childhood throughout life. 'Better Experimental Approaches to Treat Primary Ciliary Dyskinesia' (BEAT-PCD) is a network of scientists and clinicians coordinating research from basic science through to clinical care with the intention of developing treatments and diagnostics that lead to improved long-term outcomes for patients. BEAT-PCD activities are supported by EU funded COST Action (BM1407). The third BEAT-PCD conference and fourth PCD training school were held jointly in February 2018 in Lisbon, Portugal. Presentations and workshops focussed on advancing the knowledge and skills relating to PCD in basic science, epidemiology, diagnostic testing, clinical management and clinical trials. The multidisciplinary conference provided an interactive platform for exchanging ideas through a program of lectures, poster presentations, breakout sessions and workshops. Three working groups met to plan consensus statements. Progress with BEAT-PCD projects was shared and new collaborations were fostered. In this report, we summarize the meeting, highlighting developments made during the meeting.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: BMC Proc Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: BMC Proc Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido
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