Clinical expression of cystic fibrosis in a large cohort of Italian siblings.

Background: A clinical heterogeneity was reported in patients with Cystic Fibrosis (CF) with the same CFTR genotype and between siblings with CF.

Methods: We investigated all clinical aspects in a cohort of 101 pairs of siblings with CF (including 6 triplets) followed since diagnosis.

Results: Severe lung disease had a 22.

Clinical expression of patients with the D1152H CFTR mutation.

Background: Discordant results were reported on the clinical expression of subjects bearing the D1152H CFTR mutation, and also for the small number of cases reported so far.

Methods: A retrospective review of clinical, genetic and biochemical data was performed from individuals homozygous or compound heterozygous for the D1152H mutation followed in 12 Italian cystic fibrosis (CF) centers.

Results: 89 subjects carrying at least D1152H on one allele were identified.

The care of constipated children in primary care in different countries.

Aim: To investigate and compare the approach to childhood constipation by primary care physicians (PCP) in three Western countries to give insight into adherence to current guidelines and in actual care.

Methods: Prospective study utilizing a two-page survey regarding the approach to children suspected to have functional constipation (FC). A total of 413 of 1016 (41%) distributed surveys were returned out of which 383 were suitable for analysis.