Results 41 to 50 of about 925,943 (256)

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, Urszula Borawska-Kowalczyk, Lukasz Wozniacki, Malwina Dawidziuk, Mariusz Ołtarzewski, Dorota Sands   +5 more
doaj  

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

Specialized pro-resolving mediator Resolvin E1 corrects the altered cystic fibrosis nasal epithelium cilia beating dynamics [PDF]

arXiv, 2023
In cystic fibrosis (CF), impaired mucociliary clearance leads to chronic infection and inflammation. However, cilia beating features in a CF altered environment, consisting of dehydrated airway surface liquid layer and abnormal mucus, has not been fully characterized.
arxiv  

Mucus accumulation in the lungs precedes structural changes and infection in children with cystic fibrosis

Science Translational Medicine, 2019
Increased airway mucus, occurs before infection or structural lung disease in early cystic fibrosis and promotes inflammation. Early changes in cystic fibrosis Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene.
C. Esther, M. Muhlebach, C. Ehre, D. Hill, M. Wolfgang, M. Kesimer, K. Ramsey, K. Ramsey, M. Markovetz, Ian C. Garbarine, M. Forest, Ian Seim, Bryan T Zorn, Cameron B. Morrison, M. Delion, William R. Thelin, D. Villalon, J. Sabater, L. Turkovic, S. Ranganathan, S. Stick, S. Stick, R. Boucher   +22 more
semanticscholar   +1 more source

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

Long term respiratory morbidity in patients with vascular rings: a review

Italian Journal of Pediatrics, 2023
Abnormalities in position and/or branching of the aortic arch can lead to vascular rings that may cause narrowing of the tracheal lumen due to external compression, or constriction of the oesophagus, causing symptoms that vary in relation to the ...
Federica Porcaro, Paolo Ciliberti, Francesca Petreschi, Aurelio Secinaro, Annalisa Allegorico, Antonella Coretti, Renato Cutrera   +6 more
doaj   +1 more source

Cystic Fibrosis Lung Disease: An Overview

Respiratory care, 2019
Although better insights into the natural course of cystic fibrosis (CF) have led to treatment approaches that have improved pulmonary health and increased the life expectancy of individuals with this disorder, lung disease remains the main cause of ...
N. Turcios
semanticscholar   +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

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