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
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Targeted therapies to improve CFTR function in cystic fibrosis [PDF]
, 2015 Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry. The genetic basis of cystic fibrosis is well established to be mutations in the cystic fibrosis transmembrane conductance regulator ...
Brodlie, M +3 more
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T helper cell subsets specific for pseudomonas aeruginosa in healthy individuals and patients with cystic fibrosis [PDF]
, 2014 Background: We set out to determine the magnitude of antigen-specific memory T helper cell responses to Pseudomonas aeruginosa in healthy humans and patients with cystic fibrosis.
AJ Vallis +36 more
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Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele.
New England Journal of Medicine, 2019 BACKGROUND Cystic fibrosis is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, and nearly 90% of patients have at least one copy of the Phe508del CFTR mutation.
P. Middleton +20 more
semanticscholar +1 more source
Cystic fibrosis in the year 2020: A disease with a new face
Acta paediatrica, 2020 The autosomal recessive disease cystic fibrosis (CF) was once untreatable and deadly in childhood, but now most patients survive to adulthood. Many countries have instituted CF newborn screening because early diagnosis improves outcome.
K. De Boeck
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Virtual Peer Support for People With Cystic Fibrosis and Their Family Members: A Program Evaluation
Journal of Patient Experience, 2020 We sought to evaluate the feasibility, acceptability, and benefits of a virtual one-to-one peer support program for people with cystic fibrosis and their family members through a retrospective program evaluation.
Aimee Jeffrey MSN +5 more
doaj +1 more source
Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype phenotype correlations [PDF]
, 1996 We have generated a mouse carrying the human G551D mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR) by a one-step gene targeting procedure.
Alton, Ewfw +11 more
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VX-659–Tezacaftor–Ivacaftor in patients with cystic fibrosis and one or two Phe508del alleles
Canadian Journal of Respiratory Critical Care and Sleep Medicine, 2020 Cystic fibrosis is an autosomal-recessive, multisystem disease that affects ∼80,000 patients worldwide.1,2 It is caused by mutations in the CFTR gene, an epithelial chloride ion channel with varyin...
E. Merman, M. Stanbrook, A. Anand
semanticscholar +1 more source
The impact of 12 months treatment with ivacaftor on Scottish paediatric patients with cystic fibrosis with the G551D mutation : a review [PDF]
, 2016 We reviewed the impact of ivacaftor on Scottish paediatric cystic fibrosis (CF) patients ≥ 6 years of age after 12 months of treatment. Statistically significant improvements in FEV1 and BMI and a reduction in sweat chloride, all comparable with ...
Scottish Paediatric Cystic Fibrosis Managed Clinical Network (SPCFMCN)
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JAMA Network Open, 2020 This cross-sectional study compares disease-specific federal and foundation funding for sickle cell disease and cystic fibrosis research and assesses the factors associated with research productivity.
Faheem Farooq +4 more
semanticscholar +1 more source