Meconium ileus (MI) presents at birth as small bowel obstruction. Distal Intestinal Obstruction Syndrome (DIOS) is a faecal obstruction of the ileocaecum after neonatal period. We undertook retrospective review all patients our CF Centre to characterise spectrum intestinal syndromes. 404 patients, 36(9%) had presented with MI. All pancreatic insufficiency; 21(58%) were male; 26(72%) required su...

Cystic fibrosis (CF) mouse models exhibit exocrine pancreatic function, yet they do not develop adipose stores to the levels of non-CF mice. CF mice homozygous for the Cftr mutation (F508del) at 3 wk (postweaning) and 6 wk (young adult) of age had markedly less adipose tissue than non-CF mice. Food intake was markedly lower in 3-wk-old CF mice but normalized by 6 wk of age. Both 3- and 6-wk-old...

Background: Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congenital bilateral absence of vas deferens. Yet, the spectrum and frequency of CFTR mutations in Indian males with congenital absence of vas deferens (CAVD) is unknown. Materials and Methods: We investigated 50 Indian males, diagnosed with unilateral or bilateral absence of vas deferens at t...

Relevance: Controversial issues of enzyme replacement therapy for cystic fibrosis continue to be studied, without losing relevance against the background taking targeted drugs. Studies show that there is a large scale in dosage pancreatin goes beyond recommended values and no unified approach prescribing drug related national individual characteristics. Currently, insufficient data substantiate...

Objective. To study the clinical manifestations of W1282R variant, functional activity cystic fibrosis transmembrane conductance regulator (CFTR) channel, and effectiveness CFTR modulator therapy in patients with variant. Materials methods included medical records, intestinal current measurement method (ICM) organoids (IO). Results. The c.3844T>C (p.Trp1282Arg, W1282R) variant refers to miss...

Overview: This document describes capabilities available through the CFTR Folding Consortium (CFC) and other groups pursuing F508 corrector screens and drug characterization. Included are specific areas of CFC investigator expertise, brief summaries of selected assays relevant to corrector mechanism of action, and new CFC protocols suitable for compound library screening. Academic and commercia...