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The incidence of cystic fibrosis (CF) and the frequency of the variants reported for CFTR depend on the population; furthermore, CF symptomatology is characterized by obstructive lung disease and pancreatic insufficiency among other symptoms, which are reliant on the individual's genotype. The Ecuadorian population is a mixture of Native Americans, Europeans, and Africans. That population admixture could be the reason for the new mutations reported in a previous study by Ruiz et al. (2019). A panel of 46 Ancestry Informative Markers was used to estimate the ancestral proportions of each available sample (12 samples in total). As a result, the Native American ancestry proportion was the most prevalent in almost all individuals, except for three patients from Guayaquil with the mutation [; ] who had the highest European composition.
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http://dx.doi.org/10.1155/2020/9074760 | DOI Listing |
Methods Cell Biol
September 2025
Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Italy; CEINGE-Biotecnologie Avanzate, Naples, Italy.
Cystic fibrosis (CF) is a genetic disorder primarily known for its severe impact on lung function, but it also significantly affects the digestive system, leading to complications such as intestinal blockages, malabsorption, inflammation, and microbial dysbiosis. The study of CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) effects on intestinal physiology is critical for developing new effective treatments. This work highlights the use of the mouse intestine as a valuable model for analyzing cellular electrophysiology and CFTR function.
View Article and Find Full Text PDFBMJ Open Gastroenterol
September 2025
Manchester University NHS Foundation Trust, Manchester, UK.
Objective: People with cystic fibrosis (pwCF) are at significantly increased risk of colorectal cancer (CRC), prompting international recommendations for earlier screening with colonoscopy. The utility of faecal immunochemical testing (FIT) as a screening adjunct in pwCF remains unclear. This study evaluates FIT's diagnostic performance and uptake within a CRC screening programme in a UK CF centre.
View Article and Find Full Text PDFRespir Med Res
August 2025
Cystic Fibrosis Center Service de Pneumologie Pôle des Voies Respiratoires, Hôpital Larrey CHU de Toulouse, Toulouse, France.
Background: Little is known about the characteristics of adults with bronchiectasis in France.
Methods: A descriptive cross-sectional study was conducted to describe the characteristics of adults (≥18 years) with clinically-significant bronchiectasis, diagnosed on a combination of respiratory symptoms and CT scan findings, and followed in 18 participating centers. Data on, etiology, lung function, symptoms, microbiology, treatments and quality of life were collected.
Eur J Med Chem
August 2025
Dipartimento di Scienze degli Alimenti e del Farmaco (DipALIFAR), Università degli Studi di Parma, Viale delle Scienze, 27/A, 43124, Parma, Italy. Electronic address:
Cystic fibrosis (CF) is a multifaceted disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The resulting thick mucus accumulation increases the risk of microbial infections, leading to chronic lung inflammation, progressive tissue damage, and pulmonary exacerbations (PEs). Respiratory viruses may facilitate bacterial colonization, significantly contributing to PEs.
View Article and Find Full Text PDFAnn Am Thorac Soc
September 2025
Hadassah Medical Center, Pediatric Pulmonology Unit and Cystic Fibrosis Center, Jerusalem, Jerusalem, Israel.
Background Although advances in care have improved cystic fibrosis (CF) outcomes in higher-income countries (HICs), the situation remains alarming in lower-income countries (LICs). Methods People with CF (pwCF) enrolled in the European Cystic Fibrosis Society Patient Registry (ECFSPR) and carrying at least one F508del variant allele were evaluated in 2017 and in 2022 for predicted percent forced expiratory volume (ppFEV1), underweight status, and chronic Pseudomonas aeruginosa (Pa) infection, according to the gross national income (GNI) per capita divided into three terciles (low-income countries, LICs; middle-income countries, MICs; and high-income countries, HICs). Survival was evaluated in the periods 2013-2017 and 2018-2022.
View Article and Find Full Text PDF