Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study.

Background: A serious adverse effect of corticosteroid therapy is adrenal suppression. Our aim was to identify genetic variants affecting susceptibility to corticosteroid-induced adrenal suppression.

Methods: We enrolled children with asthma who used inhaled corticosteroids as part of their treatment from 25 sites across the UK (discovery cohort), as part of the Pharmacogenetics of Adrenal Suppression with Inhaled Steroids (PASS) study.

Large ABCA3 and SFTPC deletions resulting in lung disease.

Rationale: Mutations in genes encoding proteins important in the function and metabolism of pulmonary surfactant are recognized causes of lung disease. Clinical genetic testing is available for these disorders, but children with phenotypes consistent with surfactant dysfunction and no identifiable mutations in the known causative genes have been reported.

Objectives: To identify the mechanism(s) for lung disease in two children with the phenotype of surfactant dysfunction who had negative testing in clinical laboratories for gene mutations causing surfactant dysfunction.

Early morning salivary cortisol and cortisone, and adrenal responses to a simplified low-dose short Synacthen test in children with asthma.

Objective: To examine serum cortisol responses to a simplified low-dose short Synacthen test (LDSST) in children treated with inhaled corticosteroids (ICS) for asthma and to compare these to early morning salivary cortisol (EMSC) and cortisone (EMSCn) levels.

Design: Early morning salivary cortisol and EMSCn samples were collected for three consecutive days. On day three, Synacthen 500 ng/1·73 m(2) was administered intravenously.

Secondary pulmonary hypertension.

Recent research has greatly improved our understanding of the pathophysiology of pulmonary hypertension. There is increasing recognition that pulmonary hypertension is an important complication of many childhood respiratory diseases including cystic fibrosis, interstitial lung diseases, upper airways obstruction and disorders of the respiratory muscles and chest wall. Chronic hypoxaemia and, in some cases, destruction of the vascular bed are the key factors.

Qualitative study of young people's and parents' beliefs about childhood asthma.

Background: Asthma continues to be a common childhood chronic illness managed principally in primary care. Self-management requires co-ordinated efforts of young people, carers and health professionals. Non-compliance occurs even when parents are supervising care, suggesting that decisions are made on the basis of beliefs that contrast with professional advice.