cystic

Since the presence of fetal DNA was discovered in maternal blood, different investigations have focused on non-invasive prenatal diagnosis. The analysis of fetal DNA in maternal plasma may allow the diagnosis of fetuses at risk of cystic fibrosis (CF) without any risk of fetal loss. Here, we present a new strategy for the detection of fetal mutations causing CF in maternal plasma. We have used a mini-sequencing based method, the SNaPshot, for fetal genotyping of the paternal mutation in maternal blood from three pregnancies at risk of CF. The paternal mutation was detected in the analysis of plasma samples from cases 1 and 3 but not in case 2. Results of a posterior conventional molecular analysis of chorionic biopsies were in full agreement with those obtained from analysis of the plasma samples. The knowledge about the inheritance of the paternal mutation in a fetus may avoid the conventional prenatal diagnosis in some cases. The SNaPshot technique has been shown to be a sensitive...

Serous cystic neoplasms of the pancreas are regarded as benign entities with rare malignant potential and are frequently resected. The purpose of the study was to evaluate the usefulness of a multidisciplinary team (MDT) approach in decision making regarding the diagnosis and management of pancreatic serous cystic neoplasms. A retrospective study of a prospective database involving 43 patients with serous cystic neoplasms was carried out. Patients who underwent multidisciplinary team evaluation (Group 1) were compared with patients who did not (Group 2) as regards demographic, clinical, radiological, surgical and pathological data. Uni-multivariate analyses were carried out. Uni-multivariate analysis showed that a multidisciplinary team approach was significantly related to the type of management, suggesting that MDT evaluation independently reduced the odds of surgery (odds ratio (OR) 0.1; 95% confidence interval (CI) 0.02-0.8; P=0.027). Age, second level imaging techniques, latero...

Mutation epidemiology in each ethnic group is important for cystic fibrosis diagnosis and genetic counselling. To date, little has been reported on the prevalence of cystic fibrosis in the Ecuadorian population where the mutation distribution appears to differ from that of Europe. We ...

BackgroundEUR-1008 (Zenpep™ [pancrelipase]) is a new, enteric-coated, porcine-derived pancreatic enzyme product (PEP) developed for the treatment of cystic fibrosis (CF) patients with malabsorption associated with exocrine pancreatic insufficiency (EPI). Unlike currently marketed PEPs, EUR-1008 contains the label-claimed lipase content. Safety and efficacy were assessed in younger (<7years) and older (≥7years) CF patients with EPI.

BACKGROUND: Gastroesophageal reflux (GER) in adults with cystic fibrosis (CF) is poorly characterized. This study examines the frequency and predictors of GER symptoms and their relationship to lung function in adults with CF. METHODS: Cross-sectional study of adults ...