Background: Cystic fibrosis is caused by mutations impairing expression, trafficking, stability and/or activity of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel. The G1244E mutation causes a severe gating defect that it is not completely rescued by ivacaftor but requires the use of a second compound (a...
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2022 (v1)PublicationUploaded on: February 14, 2024
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2019 (v1)Publication
Background: Scientific literature shows a high prevalence of Small Intestinal Bacterial Overgrowth (SIBO) in patients with Cystic Fibrosis (CF). The role of SIBO in nutritional status and gastrointestinal symptoms in CF is not known. Our aim was to study epidemiology and clinical impact of SIBO while assessing the efficacy of rifaximin in...
Uploaded on: April 14, 2023 -
2022 (v1)Publication
: The fluid covering the surface of airway epithelia represents a first barrier against pathogens. The chemical and physical properties of the airway surface fluid are controlled by the activity of ion channels and transporters. In cystic fibrosis (CF), loss of CFTR chloride channel function causes airway surface dehydration, bacterial...
Uploaded on: February 14, 2024 -
2020 (v1)Publication
The airway epithelium contains ionocytes, a rare cell type with high expression of Forkhead Box I1 (FOXI1) transcription factor and Cystic Fibrosis Transmembrane conductance Regulator (CFTR), a chloride channel that is defective in cystic fibrosis (CF). Our aim was to verify if ionocyte development is altered in CF and to investigate the...
Uploaded on: April 14, 2023 -
2023 (v1)Publication
The aim of this study was to investigate the association between Cystic Fibrosis (CF) and affective temperaments, considering the relevance of ionic balances in neural excitability, as a possible neurobiological basis for temperamental expression. A cross-sectional study involving 55 adult CF patients was conducted. Sociodemographic, clinical...
Uploaded on: February 14, 2024