No abstract

This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C>T; p.Ala88Val) leading to KID syndrome.

We recently evaluated some new markers of bone and collagen turnover as measures of systemic effects on children treated with glucocorticosteroids. Serum concentrations of osteocalcin, a marker of bone formation, were depressed during treatment with low doses of oral prednisolone but not during treatment with inhaled budesonide 200 and 800 pug from a pressurised metered dose inhaler with a spacer.' The aminoterminal propeptide of type III procollagen (PIIINP), a serum marker of type III collagen synthe sis, and the carboxyterminal propeptide of type I procollagen (PICP), a marker of type I collagen synthesis, were suppressed during treatment with prednisolone.2 These findings suggest that valuable information about glucocorticosteroid induced effects on bone and collagen turnover may be obtained from studies of these serum markers.Treatment with inhaled glucocorticosteroids using dry powder inhalers are increasingly preferred due to concern about possible adverse effects of the Freon driven metered dose inhalers on the environment. Budesonide delivered from the Turbuhaler and beclomethasone dipropionate delivered from the Diskhaler are widely used dry powder delivery devices. The aim of the present study was to evaluate whether budesonide 800 ,ug/day delivered from the Turbuhaler and beclomethasone dipropionate 800 ,ug/day delivered from the Diskhaler influence serum and urinary markers of bone and collagen turnover in children.Subjects and methods Twelve prepubertal boys and four prepubertal girls were studied. All suffered from mild asthma and needed treatment only with inhaled [P2 stimulants at the time of the study.Mean (range) age was 8-7 years (6-11-5 years), and mean body surface area was 10 m2 (0-78-1P20 m2).The study was an open crossover trial with periods of 14 days. In period 1 (run-in) and 3 (wash-out) no treatment was given. In periods 2 and 4 the children took dry powder budesonide from the Turbuhaler or dry powder beclomethasone dipropionate from the Diskhaler in a dose of 800 ,ug/day. Treatment order was allocated by means of a computerised randomisation scheme prepared in balanced blocks. The inhalations were taken twice daily at 8 am and 8 pm as two actuations of 200 ,ug. The children were carefully instructed in inhalation techniques. They were asked to rinse their mouth after the inhalations. As a measure of compliance, the number of delivered inhalations taken by each patient was counted. If compliance was less than 80% the patient was excluded from the study.