Results 11 to 20 of about 155,549 (248)
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 +2 more
exaly +10 more sources
Frontiers in Pediatrics, 2022 IntroductionIn cystic fibrosis (CF), pathological lung changes begin early in life. The technological progress currently gives many diagnostic possibilities. However, pulmonary function testing in children remains problematic.ObjectivesOur study aimed to
Magdalena Postek +7 more
doaj +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 ...
Susanne, Naehrig +2 more
openaire +4 more sources
Microbiologia Medica, 2021 Background and aims. Scedosporium species and Lomentospora prolificans are the filamentous fungi isolated more frequently from the cystic fibrosis (CF) lower airways, after Aspergillus fumigatus. Previous studies showed that, in CF patients, Scedosporium
Lisa Cariani +14 more
doaj +1 more source
The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry
Diagnostics, 2021 Cystic Fibrosis (CF) registries are an essential resource of epidemiological and clinical data. Although the median age at diagnosis is usually reported in the first months of life, a minority of individuals is diagnosed during adulthood. The aim of this
Rita Padoan +6 more
doaj +1 more source
Scientific Reports, 2022 Genetic mutations cause a wide spectrum of human disease by disrupting protein folding, both during and after synthesis. Transient de-novo folding intermediates therefore represent potential drug targets for pharmacological correction of protein folding ...
Hideki Shishido +2 more
doaj +1 more source
Mediators of Inflammation, 2023 Introduction. Bronchiolitis obliterans (BO) is a chronic lung disease, which occurs after an insult to the lower airways, in particular after airway infections or after stem cell transplantation, and which results in persistent inflammation.
Silvija P. Jerkic +6 more
doaj +1 more source
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