Results 1 to 10 of about 486,806 (280)

Diagnostic agreement among experts assessing adults presenting with possible cystic fibrosis: need for improvement and implications for patient care

ERJ Open Research, 2022
Background Increasing awareness of milder presentations of cystic fibrosis (CF) and greater interest in non-CF bronchiectasis are likely to lead to more CF screening by respiratory clinicians. As a result, adults who may not strictly fulfil CF diagnostic
Alessandro N. Franciosi, April Tanzler, Jodi Goodwin, Pearce G. Wilcox, George M. Solomon, Albert Faro, Noel G. McElvaney, Damian G. Downey, Bradley S. Quon   +8 more
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Elexacaftor/Tezacaftor/Ivacaftor Efficacy in a Cohort of Italian Patients with CFTR Rare Mutations

International Journal of Translational Medicine
Background: Cystic Fibrosis is an inherited disorder caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene, encoding a chloride and bicarbonate channel widely expressed in epithelia.
Francesca Lucca, Sonia Volpi, Mirco Ros, Benedetta Fabrizzi, Ilaria Meneghelli, Marica Bordicchia, Francesca Buniotto, Alessia Lancini, Cecilia Brignole, Francesca Pauro, Valentino Bezzerri, Marco Cipolli   +11 more
doaj   +1 more source

CFTR trafficking mutations disrupt cotranslational protein folding by targeting biosynthetic intermediates

Nature Communications, 2020
Cystic fibrosis (CF) is a lethal genetic disease that is primarily caused by misfolding of the cystic fibrosis transmembrane conductance regulator (CFTR). Here authors show that disease-causing mutations located within the first nucleotide binding domain
Hideki Shishido, Jae Seok Yoon, Zhongying Yang, William R. Skach   +3 more
doaj   +1 more source

Impact of Achromobacter xylosoxidans isolation on the respiratory function of adult patients with cystic fibrosis

ERJ Open Research, 2019
Background The prevalence of Achromobacter xylosoxidans lung isolation in cystic fibrosis (CF) patients has increased, but the impact on lung function is controversial. The aim of this study was to evaluate the long-term effects of A.
Macha Tetart, Frederic Wallet, Maeva Kyheng, Sylvie Leroy, Thierry Perez, Olivier Le Rouzic, Benoit Wallaert, Anne Prevotat   +7 more
doaj   +1 more source

Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience

International Journal of Neonatal Screening, 2022
Pancreatitis-Associated Protein (PAP)-based Cystic Fibrosis (CF) newborn bloodspot screening (NBS) protocols detect less CFTR-Related Metabolic Syndrome (CRMS)/CF Screen Positive, Inconclusive Diagnosis (CFSPID).
Chiara Bianchimani, Daniela Dolce, Claudia Centrone, Silvia Campana, Novella Ravenni, Tommaso Orioli, Erica Camera, Gianfranco Mergni, Cristina Fevola, Paolo Bonomi, Giovanni Taccetti, Vito Terlizzi   +11 more
doaj   +1 more source

National survey on pediatric respiratory physiotherapy units: primary ciliary dyskinesia and non-CF bronchiectasis

Italian Journal of Pediatrics
Background Currently, there is a lack of data concerning the organization and characteristics of Italian pediatric physiotherapy units for the treatment of patients with chronic lung diseases, especially those with rare conditions such as Primary Ciliary
Beatrice Tani, Nicola Ullmann, Paola Leone, Alessandra Boni, Eugenio Barbieri, Matteo D’Angelo, Sara De Dominicis, Beniamino Giacomodonato, Stefania Monduzzi, Irene Piermarini, Chiara Pizziconi, Beatrice Ferrari, Renato Cutrera   +12 more
doaj   +1 more source

A non-randomised single centre cohort study, comparing standard and modified bowel preparations, in adults with cystic fibrosis requiring colonoscopy

BMC Gastroenterology, 2019
Background Adults with cystic fibrosis (CF) have been reported to be at five to ten-fold risk (25 to 30 fold risk after solid organ transplant) of colorectal cancer (CRC) than the general population.
A. G. Matson, J. P. Bunting, A. Kaul, D. J. Smith, J. Stonestreet, K. Herd, R. S. Hodgson, S. C. Bell   +7 more
doaj   +1 more source

UK Cystic Fibrosis Registry Website Enhancements: A User-Centred Approach to the Data Access Transparency

International Journal of Population Data Science
Background As a member of the HDR UK Alliance, Cystic Fibrosis Trust is committed to adopting and maintaining the transparency standards within the UK CF Registry (UKCFR).
Poh-Choo Pang, Sarah Clarke
doaj   +1 more source

A multimodal iPSC platform for cystic fibrosis drug testing

Nature Communications, 2022
Hundreds of mutations in the gene CFTR lead to cystic fibrosis and represent a challenge to developing therapeutics. Here, authors demonstrate the ability of airway cells derived from human iPSCs to model genotype-specific CFTR function as well as ...
Andrew Berical, Rhianna E. Lee, Junjie Lu, Mary Lou Beermann, Jake A. Le Suer, Aditya Mithal, Dylan Thomas, Nicole Ranallo, Megan Peasley, Alex Stuffer, Katherine Bukis, Rebecca Seymour, Jan Harrington, Kevin Coote, Hillary Valley, Killian Hurley, Paul McNally, Gustavo Mostoslavsky, John Mahoney, Scott H. Randell, Finn J. Hawkins   +20 more
doaj   +1 more source

Cystic fibrosis and the role of the physiotherapist

South African Journal of Physiotherapy, 1981
Cystic fibrosis is an inherited disease, the major problems being pancreatic malabsorption and progressive respiratory involvement, although numerous other organs may also be involved.
Anne Miot, J. M. Pettifor, I. Reef
doaj   +1 more source