Results 11 to 20 of about 317,712 (289)
Nature Reviews Disease Primers, 2015 Cystic fibrosis is an autosomal recessive, monogenetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The gene defect was first described 25 years ago and much progress has been made since then in our understanding of how CFTR mutations cause disease and how this can be addressed therapeutically ...
Felix, Ratjen +5 more
exaly +7 more sources
Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present
Italian Journal of Pediatrics, 2021 Background Cystic fibrosis (CF) is a life-threatening disease affecting about 1:3000 newborns in Caucasian populations. The introduction of newborn screening for cystic fibrosis (CF NBS) has improved the clinical outcomes of individuals with CF through ...
Matteo Botti +11 more
doaj +1 more source
Clinical Case Reports, 2021 Elexacaftor/tezacaftor/ivacaftor (ETI) is a cystic fibrosis (CF) transmembrane regulator (CFTR) modulator. It is known to be efficacious in stable patients with severe pneumopathy, but there are few data concerning its effectiveness during acute ...
Donatello Salvatore +4 more
doaj +1 more source
Paraquat ingestion in an adult with cystic fibrosis (CF): Diagnostic and management dilemmas
Respirology Case Reports, 2023 N,N'‐dimethyl‐4,4'bipyridinium dichloride (Paraquat) is a potent herbicide used widely in agriculture. We report the effects of an ingestion of paraquat by a 28 year old male with cystic fibrosis and the diagnostic and management challenges this posed in
Ieuan E. S. Evans +8 more
doaj +1 more source
Children, 2023 Background: Cystic fibrosis (CF) patients require regular airway clearance therapy (ACT). The aim of this study was to evaluate homecare therapeutic effects of a new ACT (Simeox®) added to the optimal standard of care, including home chest physiotherapy,
Dorota Sands +8 more
doaj +1 more source
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
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
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
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
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