Background: Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of
CF transmembrane conductance regulator gene (CFTR) mutations. Phenotypic variability …

Purpose Recent studies have shown an increased incidence of congenital hypothyroidism
over the past 2 or 3 decades. The etiology of this change is unknown, but it has been related …

Objective To assess the efficiency of the French national screening program for 21-
hydroxylase deficiency (21-OHD). Neonatal screening for congenital adrenal hyperplasia …

Recent evidence suggests that genetic polymorphisms that affect the production of
interleukin (IL)–10 may play a role in the response to pathogens in cystic fibrosis (CF). The …

Objectives To investigate the contribution of whole-body post-mortem computed tomography
(PMCT) in sudden unexpected death in infants and children. Methods Forty-seven cases of …

Context: Screening programs resulting in the early treatment of patients with congenital
hypothyroidism (CH) have successfully improved neurodevelopmental outcome, but little is …

Rationale: The diagnosis of cystic fibrosis (CF) is based on a characteristic clinical picture in
association with a sweat chloride (Cl−) concentration greater than 60 mmol/L or the …

Background Cystic fibrosis (CF) is an autosomal recessive disorder whose incidence has
long been estimated as 1/2500 live births in Caucasians. Expanding implementation of …

Purpose Severe combined immunodeficiency (SCID) refers to a group of genetic disorders
characterized by greatly compromised cellular and humoral immunity. Children with SCID …

Background Neonatal screening for cystic fibrosis has been a subject of debate over the
past few years. This study assesses 10 years of neonatal screening in Brittany, France, and …