Malignancies in patients with cystic fibrosis: a case series
Journal of Medical Case Reports, 2022 Background Previous reports have shown an increased number of colorectal cancers in patients with cystic fibrosis. We assessed the database of our cystic fibrosis center to identify patients with all kinds of cancer retrospectively. All patients visiting
Dorothea Appelt +3 more
doaj +1 more source
Clinical complications in children with false-negative results in cystic fibrosis newborn screening
Jornal de Pediatria, 2022 Objective: To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS). Materials and methods: All children presented in this paper were covered by CF NBS.
Katarzyna Zybert +5 more
doaj +1 more source
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
core +2 more sources
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
semanticscholar +1 more source
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
core +3 more sources
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
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
core +2 more sources
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
Jornal de Pediatria, 1998 OBJECTIVE: Due to the great advances recently achieved in the treatment of Cystic Fibrosis as well as to the fact that pediatricians need to have a better understanding of this disease, the authors propose an extensive review of the subject. METHODS: We selected the most outstanding publications on Cystic Fibrosis in the international literature of the
F J, Reis, N, Damaceno
openaire +4 more sources