Search results for "Sweat test"
showing 3 items of 3 documents
Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of vas deferens
2001
Summary The possibility of retrieving spermatozoa from the epididymis allows patients with congenital bilateral absence of the vas deferens (CBAVD) to father a child by means of assisted reproduction techniques. This has, however, increased the chance of transmitting a mutated allele of the cystic fibrosis transmembrane conductance regulator (CFTR) gene which increases the risk of generating offspring with cystic fibrosis (CF). Because of the increased heterogeneity of the CFTR locus, the study of a discrete number of mutations, as usually carried out in a diagnostic work-up, is unable to ascertain the presence of a mutation in a relatively high proportion of the patients screened. In an at…
A novel approach to CFTR mutation testing by pyrosequencing-based assay panels adapted to ethnicities.
2009
Abstract Background: Cystic fibrosis (CF) is a common autosomal recessive genetic disorder caused by a variety of sequence alterations in the CFTR gene [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)]. Because the relative prevalence of mutations strongly depends on the ethnic background, first-level testing of CF as defined by recent consensus recommendations ought to be adaptable to the ethnicity of patients. Methods: We therefore developed and implemented a diagnostic approach to first-level testing for CF based on published mutation frequencies and Pyrosequencing (PSQ) technology that we complemented with standard procedures of mutation…
PO-0359 How To Select The Sweat Test Candidate. 10 Years Of Experience In Screening For Cystic Fibrosis In Children
2014
Background Sweat test (ST) remains gold standard in cystic fibrosis (CF) diagnosis. Alarm symptoms are age-related. Aims Retrospective review of cases subjected to ST. Methods Patients were selected by paediatricians, neonatologists, surgeons, based on suggestive symptoms, personal (PH) and familial history (FH). Inclusion criteria: for 0–1 month age group, patients with PH of atelectasis, meconium ileus, intussusception; 1–12 months, recurrent wheezing (RW), failure to thrive (FTT); 1–5 years, previous group symptoms, plus chronic cough/diarrhoea; >5 years, 1–5 years symptoms, plus recurrent pancreatitis/sinusitis. For all age, patients with PH of salty taste of sweat (STS), salt wasting s…