BACKGROUND The large number of CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] mutations and the existence of variants of unclear significance complicate the prenatal diagnosis of cystic fibrosis (CF). The aim of this study was to determine whether the pattern of amniotic fluid digestive enzymes (AF-DEs) could be correlated with the sever...

BACKGROUND Complete gene analysis of the cystic fibrosis transmembrane conductance regulator gene (CFTR) by scanning and/or sequencing is seldom performed because of the cost, time, and labor involved. High-resolution DNA melting analysis is a rapid, closed-tube alternative for gene scanning and genotyping. METHODS The 27 exons of CFTR were amplified in 37 PCR products under identical conditi...

BACKGROUND Congenital bilateral absence of the vas deferens (CBAVD) is presumed to occur prenatally and is present in over 99% of adult males with cystic fibrosis (CF). AIMS To describe ultrasonic features in male children with CF. We aimed to describe urogenital anomalies, comparing pancreatic sufficient and insufficient CF patients. METHODS Pelvic and scrotal ultrasonography were performe...

BACKGROUND One important aspect of the societal burden of mental disorders is the extent to which these problems cause disability. AIMS To assess days out of role associated with commonly occurring mental disorders in comparison with physical disorders in Portugal. METHOD National cross-sectional survey, with home interviews carried out with 3849 adult (aged 18+) respondents (57.3% response...

BACKGROUND WHO Disability Assessment Schedule 2.0 (WHODAS 2.0) is a feasible tool for assessing functional disability and analysing the risk of institutionalisation among elderly patients with dementia. However, the data for the effect of education on disability status in patients with dementia is lacking. The aim of this large-scale, population-based study was to analyse the effect of educatio...

We screened the whole coding region of the cystic fibrosis transmembrane regulator (CFTR) gene in 371 unrelated cystic fibrosis (CF) patients from three regions of southern Italy. Forty-three mutations detected 91.5% of CF mutated chromosomes by denaturing gradient gel electrophoresis analysis, and three intragenic CFTR polymorphisms predicted a myriad of rare mutations in uncharacterized CF ch...

BACKGROUND Prevalence and risk factors of cytomegalovirus (CMV) viremia in patients infected with human immunodeficiency virus (HIV) starting antiretroviral therapy (ART) in developing countries are understudied. METHODS We measured CMV DNA in stored plasma specimens of 293 Thai HIV patients starting ART at CD4 counts <200 cells/mm(3). We examined Cox proportional hazard ratios (HRs) of 24 mo...

A key open question in the understanding of the biology of DNA methylation relates to the origin and function of CpG islands, stretches of GC-rich and relatively CpG-rich DNA sequence that often colocalize with promoter regions. All housekeeping, but also a substantial minority of tissue-specific genes are associated with the CpG islands. Limited experimental evidence suggests that CpG islands ...