Publications by authors named "Luc Refabert"

Primary ciliary dyskinesia (PCD) is a genetic disorder in which impaired ciliary function leads to chronic airway disease. Exome sequencing of a PCD subject identified an apparent homozygous frameshift variant, c.887_890delTAAG (p.

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Objectives: Exertional dyspnea during sport at school in children with asthma or in otherwise healthy children is commonly attributed to exercise-induced asthma (EIA), but when a short-acting beta agonist (SABA) trial fails to improve symptoms the physician is often at a loose end.

Design: The aims were to prospectively assess the causes of exertional dyspnea in children/adolescents with or without asthma using a cardiopulmonary exercise test while receiving a SABA and to assess the effects of standardized breathing/reassurance therapy.

Results: Seventy-nine patients (12.

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Background: Asthma seems to be the more prevalent underlying condition in patients hospitalized for H1N1-related flu.

Methods: A prospective survey was conducted during the early phase of H1N1 pandemic in France in asthmatic children before vaccination to assess whether severe exacerbations in childhood asthma are associated with influenza-like illness (ILI, the definition of H1N1-related flu in a pandemic). Eight pediatricians in primary care distributed in three localities (Paris, south suburb, and west suburb) conducted the survey (4 weeks/locality from week 36 to 47).

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Aim: To measure the impact of French national consensus guidelines on the clinical practices of primary care paediatricians and general practitioners.

Design: Non-randomized intervention study, with a first survey 1 year before the consensus development conference and a second survey 1 year after.

Intervention: Implementation of bronchiolitis management guidelines through the medical press and the Internet.

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