After an experimental neonatal screening program for cystic fibrosis (CF) from 1973-1979, a follow-up study took place from 1980-1997. Patients were treated at specialized centres (C) or at local hospitals (non-C). Aims of the study were: 1) to determine whether the previously reported benefits from screening persisted with time and after adjustment for confounding variables; and 2) to investig...

BACKGROUND Persistent Pseudomonas aeruginosa (PPA) infection promotes lung function deterioration in children with cystic fibrosis (CF). Although early CF diagnosis through newborn screening (NBS) has been shown to provide nutritional/growth benefit, it is unclear whether NBS lowers the risk of PPA infection and how the effect of NBS vary with age. Modeling the onset age of PPA infection is cha...

Intestinal obstructions resulting from various causes such as Hirschsprung disease, intestinal atresia, meconium ileus, and intussusception are not uncommon in the neonatal period 1, 2) . Most of the intestinal obstructions in the pediatric population result from postoperative adhesion or postinflammatory adhesions or stenosis 5) . However, small bowel obstruction caused by an anomalous congeni...

Technological advances in genetics have made feasible and affordable large studies to identify genetic variants that cause or modify a trait. Genetic studies have been carried out to assess variants in candidate genes, as well as polymorphisms throughout the genome, for their associations with heritable clinical outcomes of cystic fibrosis (CF), such as lung disease, meconium ileus, and CF-rela...

We have generated a mouse carrying the human G551D mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR) by a one-step gene targeting procedure. These mutant mice show cystic fibrosis pathology but have a reduced risk of fatal intestinal blockage compared with 'null' mutants, in keeping with the reduced incidence of meconium ileus in G551D patients. The G551D mutant mi...

The mode of presentation, clinical course, and outcome of 12 infants with cystic fibrosis and liver disease referred over an 18 year period were investigated retrospectively. Median age at presentation was 6.5 weeks (range, 5-12). Two thirds were boys. Conjugated hyperbilirubinaemia was the presenting symptom in 11 patients, and hypoalbuminaemia in one. Jaundice was cleared over a median period...

Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing obstructive azoospermia and male infertility. Preimplantation genetic diagnosis is an alternativ...

The distal intestinal obstruction syndrome (DIOS), previously known as meconium ileus equivalent (MIE), is a condition unique to cystic fibrosis (CF). The syndrome is relatively common, occurring in about 10-22% of patients (Rubinstein et al, 1986; Penketh et al, 1987; Davidson et al, 1987; Dray et al, 2004). It may present at any time after the neonatal period but the incidence increases with ...