Results 1 to 10 of about 1,097,525 (251)
Journal of the American Medical Association (JAMA), 2022 Diagnosis of Cystic Fibrosis Newborn screening programs measure a chemical in the blood called immunoreactive trypsinogen, which is elevated in CF. Most newborn screening programs also include genetic testing for the most common mutations that cause CF ...
Tori M Endres, M. Konstan
semanticscholar +1 more source
Pediatric Pulmonology, 2021 Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are disease‐modifying medications for cystic fibrosis (CF) and are shown to be efficacious for only specific CFTR mutations.
M. McGarry, S. McColley
semanticscholar +1 more source
Soft, skin-interfaced sweat stickers for cystic fibrosis diagnosis and management
Science Translational Medicine, 2021 A soft, wearable microfluidic platform collects and quantitatively analyzes sweat biomarkers to improve the diagnosis of cystic fibrosis. A simple sweat test for cystic fibrosis Cystic fibrosis is diagnosed in infants by use of sweat testing as elevated ...
Tyler R. Ray +21 more
semanticscholar +1 more source
A review of cystic fibrosis: Basic and clinical aspects
Animal Models and Experimental Medicine, 2021 Cystic fibrosis is an autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR).
Qionghua Chen +2 more
semanticscholar +1 more source
Nature Reviews Disease PrimersCystic fibrosis is a rare genetic disease caused by mutations in CFTR, the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). The discovery of CFTR in 1989 has enabled the unravelling of disease mechanisms and, more recently, the development of CFTR-directed therapeutics that target the underlying molecular defect.
Yu E, Sankari A, Sharma S.
europepmc +3 more sources
CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine
Frontiers in Pharmacology, 2020 Cystic fibrosis (CF) is a lethal inherited disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, which result in impairment of CFTR mRNA and protein expression, function, stability or a combination of these.
M. Lopes-Pacheco
semanticscholar +1 more source
Deutsches Ärzteblatt international, 2017 Universal screening of newborn babies for cystic fibrosis was launched in Germany on 1 September 2016. Here we present up-to-date information on the diagnosis, treatment, and prognosis of this disease.This article is based on relevant publications retrieved by a selective search in PubMed, along with guidelines from Germany and abroad and systematic ...
Radtke, Thomas +2 more
openaire +5 more sources
Not All Children with Cystic Fibrosis Have Abnormal Esophageal Neutralization during Chemical Clearance of Acid Reflux. [PDF]
, 2017 PurposeAcid neutralization during chemical clearance is significantly prolonged in children with cystic fibrosis, compared to symptomatic children without cystic fibrosis.
Di Lorenzo, Carlo +9 more
core +3 more sources
How do adults with cystic fibrosis cope following a diagnosis of diabetes? [PDF]
, 2008 The official published version of the article can be obtained from the link below.Aim. This paper is a report of a study examining the experience of adults with cystic fibrosis in adapting to the diagnosis of diabetes, a second chronic illness ...
Collins, S, Reynolds, F
core +1 more source
BMJ, 2007 As the Good Witch told Dorothy in the Wizard of Oz: it is always best to start at the beginning. Growing up, I always knew that I had cystic fibrosis, the same way I knew I had blue eyes and my cousins could all run faster than me. I was lucky enough—though my parents did not think so at the time—to be diagnosed at two days old.
openaire +7 more sources