3849

OBJECTIVE To study the clinical and mutation profiles of children with cystic fibrosis in Jammu and Kashmir. METHODS One hundred consecutive patients presenting with one or more phenotypic features suggestive of cystic fibrosis (CF) were screened by quantitative sweat chloride testing. For patients with positive/equivocal test result on two occasions, CFTR gene mutation analysis was done by p...

Most cystic fibrosis (CF) transmembrane receptor mutations are rare. The French CF Registry offers an opportunity to study the genotype-phenotype relationship of these rare alleles. Since 1992, 39 CF patients carrying one copy of the 3849+10kbC->T mutation and 88 the 2789+5G->A allele have been seen at least once in a CF care centre. Among them, 16 carrying the 3849+10kbC->T/Delta F508 genotype...

Disease severity varies among cystic fibrosis (CF) patients carrying the same cystic fibrosis transmembrane conductance regulator (CFTR) genotype and among organs of the same individual. It has been shown that the class V splicing mutation 3849 + 10 kb C--> T produces both normal and aberrantly spliced CFTR transcripts. We analyzed the levels of normal CFTR messenger RNA (mRNA) in different org...

Abstract Background and Aims The incidence of peritonitis has markedly decreased in the last decades, nevertheless it remains one main causes catheter removal subsequent dialysis modality change. In long-term severe relapses can lead to peritoneal membrane failure. Some bacteria form biofilms lumen granting them resistance against antibiotics thus being for infection recurrences. To find a viab...

The diagnosis of cystic fibrosis (CF) can be difficult if the sweat test and routine deoxyribonucleic acid (DNA) analysis are inconclusive. Under these circumstances, measurement of nasal potential difference (NPD) was proposed as a complementary diagnostic tool, as demonstrated in subjects bearing the G551S or 3849+10KbC-->T mutations. The purpose of the present study was to verify the diagnos...

12 * Corresponding author. Mailing address: Division of Pulmonary and Critical Care 13 Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan 14 University School of Medicine, Irwon-ro 81, Gangnam-gu, Seoul, 135-710, Korea. 15 Phone: 822-341-3429. Fax: 822-3410-3849. E-mail: [email protected] 16 Copyright © 2013, American Society for Microbiology. All Rights Reserved. J. Clin. Micr...

The CFTR splicing mutation 3849 + 10 kb C --> T creates a novel donor site 10 kilobases (kb) into intron 19 of the gene and is one of the more common splicing mutations that causes cystic fibrosis (CF). It has an elevated prevalence among patients with atypically mild disease and normal sweat electrolytes and is especially prominent in Ashkenazi Jews. This class of splicing mutations, reported ...

While our understanding of cystic fibrosis genetics has expanded in recent decades, the genetics and clinical manifestations of the disease remains highly heterogeneous. Diagnosis of CF in non-classical mutations remains a clinical challenge. We describe the clinical presentation of two patients with chronic cough found to have normal sweat chlorides. We discuss the subsequent evaluation that l...