Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene that results in abnormal viscous mucoid secretions in multiple organs and whose main clinical features are pancreatic insufficiency and chronic endobronchial infection. ...
Point-of-need diagnosis of cystic fibrosis using a potentiometric ion-selective electrode array The novel approach of using a micro-sensor array of miniaturised solid-state ion-selective electrodes to analyse sweat samples for sodium, potassium and ch... A Lynch,D Diamond,M Leader - 《Analyst》...
Diagnosis of cystic fibrosis in London and South East England before and after the introduction of newborn screening Seddon P, Balfour-Lynn IM (2014) Diagnosis of cystic fibrosis in London and South East England before and after the introduction of newborn screening. ... MTC,Urn,C,... - ...
THE DIAGNOSIS OF CYSTIC FIBROSIS BY RECTAL SUCTION BIOPSY THE DIAGNOSIS OF CYSTIC FIBROSIS BY RECTAL SUCTION BIOPSY. By - R.A. Parkins M.D. Lond., M.R.C.P., C.E. Rubin M.D. Harvard, S. Eidelman M.B. W'srand, W.O. ......
The diagnosis of cystic fibrosis (CF) is being made with increasing frequency in adults. Patients with CF diagnosed in adulthood typically present with respiratory complaints, and often have recurrent or chronic airway infection. At the time of initial presentation individuals may appear to have clini...
We report here four cases of pediatric patients in whom the diagnosis of cystic fibrosis was made only after the histological examination of a liver specimen obtained by biopsy (three cases) or at autopsy (one case). There were two boys and two girls, aged 13months to 7.5years. None had ...
Such tests are carried out in various situations, including molecular diagnosis of cystic fibrosis (CF), prenatal diagnosis, and carrier testing. CF is primarily a clinical diagnosis based on consensus clinical and laboratory criteria.1 Detailed pheno- typic characteristics can be found elsewhere.1 ...
Sweat testing for the diagnosis of cystic fibrosis: Practical considerations Most pediatricians eventually encounter a patient with a clinical presentation that warrants the consideration of a sweat test to rule out or confirm the d... VA Legrys - 《Journal of Pediatrics》...
Anne-Françoise Roux1,3 and Mireille Claustres*,1,2,3 Cystic fibrosis (CF) is one of the most common indications for preimplantation genetic diagnosis (PGD) for single gene disorders, giving couples the opportunity to conceive unaffected children without having to consider termination of pregnancy...
What Is Cystic Fibrosis? Cystic fibrosis (CF) is a genetic disorder, which means you get it from your parents at birth. It affects your lungs, pancreas, and other organs. CF changes the way chloride (salt) moves through the cells of your body. This causes the mucus (which should be th...