Results 111 to 120 of about 1,046,440 (397)

Do current clinical trials in cystic fibrosis match the priorities of patients and clinicans? A systematic review [PDF]

, 2019
There are many uncertainties regarding Cystic Fibrosis (CF) treatment. Recently, the first James Lind Alliance (JLA) Priority Setting Partnership (PSP) in CF was completed, bringing clinicians, patients and carers together to identify the Top 10 research
Kalaitzis, I.S., Rowbotham, N.J., Smith, S.J., Smyth, A.R.   +3 more
core   +2 more sources

Functional Characterization of a Genetic Variant in the 5′ UTR of APC 1B Promoter in a Familial Adenomatous Polyposis Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic germline variants in the APC gene result in familial adenomatous polyposis (FAP) which can escalate into colon cancer. Standard clinical testing failed to identify pathogenic variants in a 4‐generation FAP family. We identified and assessed co‐segregation of a 5′ untranslated region (UTR) variant, NM_001127511.3 (APC) c.‐40G>A ...
Brendon Young, Deborah W. Neklason, Kathleen Clark, Bing‐Jian Feng, Megan B. Keener, Thérèse M. Tuohy, Austin Wood, Wendy C. McKinnon, Marc S. Greenblatt, Sean V. Tavtigian   +9 more
wiley   +1 more source

A smartphone app for preschool wheezing and reliability of medical history collection

Italian Journal of Pediatrics
Background The use of mobile applications helps improving self-management in adolescents with asthma. However, no evidence is available for children with preschool wheezing.
Nicola Ullmann, Adriana Fracchiolla, Alessandra Boni, Valentina Negro, Federica Porcaro, Antonio Di Marco, Salvatore Tripodi, Renato Cutrera   +7 more
doaj   +1 more source

Increased fat mass and obesity risk after elexacaftor–tezacaftor–ivacaftor therapy in young adults with cystic fibrosis

Frontiers in Nutrition
BackgroundWhen people with cystic fibrosis (PwCFs) are treated with cystic fibrosis transmembrane conductance regulator protein modulator (CFTRm), it leads to changes in body composition.
Ana Merino Sánchez-Cañete, Concepción Marina López Cárdenes, Saioa Vicente Santamaría, José Ramón Gutiérrez Martínez, Marta Suárez González, María Álvarez Merino, David González Jiménez   +6 more
doaj   +1 more source

Synthesising Electronic Health Records: Cystic Fibrosis Patient Group [PDF]

arXiv, 2022
Class imbalance can often degrade predictive performance of supervised learning algorithms. Balanced classes can be obtained by oversampling exact copies, with noise, or interpolation between nearest neighbours (as in traditional SMOTE methods). Oversampling tabular data using augmentation, as is typical in computer vision tasks, can be achieved with ...
arxiv  

Small molecule ion channels increase host defenses in cystic fibrosis airway epithelia

Nature, 2019
Loss-of-function mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) compromise epithelial HCO3− and Cl− secretion, reduce airway surface liquid pH, and impair respiratory host defences in people with cystic fibrosis1–3.
Katrina A. Muraglia, Rajeev S. Chorghade, Bo Ram Kim, X. Tang, Viral S. Shah, A. Grillo, Page N. Daniels, Alexander G. Cioffi, Philip H. Karp, Lingyang Zhu, M. Welsh, M. Burke   +11 more
semanticscholar   +1 more source

Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams–Beuren Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in patients with Williams–Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients.
Maria Francesca Bedeschi, Annarita Baldassarri, Roberta Villa, Federico Tanzi, Simona Salera, Vincenza Lombardo, Alessandro Draghi, Nicole Piazza O'Sed, Giovanni Casazza, Maurizio Vecchi, Mirella Fraquelli   +10 more
wiley   +1 more source

Antibacterial Siderophores of Pandoraea Pathogens and Their Impact on the Diseased Lung Microbiota

Angewandte Chemie, EarlyView.
Genome mining of environmental and pathogenic Pandoraea species identified a conserved NRPS gene cluster and led to the discovery of novel siderophores, pandorabactins, which exert their antibacterial activity by depleting iron from competitors. Bioinformatic analysis of sputum from cystic fibrosis patients coupled with bioassays indicates that ...
Elena Herzog, Keishi Ishida, Kirstin Scherlach, Xiuqiang Chen, Benjamin Bartels, Sarah P. Niehs, Bachar Cheaib, Gianni Panagiotou, Christian Hertweck   +8 more
wiley   +2 more sources

Lung function improvement on triple modulators: high-resolution, nationwide data from the Danish Cystic Fibrosis Cohort

ERJ Open Research
Background People living with cystic fibrosis in Denmark had early, universal access to triple modulator treatment with elexacaftor/tezacaftor/ivacaftor.
Christian Leo-Hansen, Daniel Faurholt-Jepsen, Tavs Qvist, Christine Højte, Bibi U. Nielsen, Thomas Bryrup, Esben H. Henriksen, Terese Katzenstein, Marianne Skov, Inger H.M. Mathiesen, Majbritt Jeppesen, Søren Jensen-Fangel, Hanne V. Olesen, Frederik Fouirnaies Buchvald, Kim Gjerum Nielsen, Espen Jimenez-Solem, Christian Ritz, Tacjana Pressler, Mette F. Olsen, the TransformCF Study Group   +19 more
doaj   +1 more source

The NSAID glafenine rescues class 2 CFTR mutants via cyclooxygenase 2 inhibition of the arachidonic acid pathway

Scientific Reports, 2022
Most cases of cystic fibrosis (CF) are caused by class 2 mutations in the cystic fibrosis transmembrane regulator (CFTR). These proteins preserve some channel function but are retained in the endoplasmic reticulum (ER).
Graeme W. Carlile, Qi Yang, Elizabeth Matthes, Jie Liao, Véronique Birault, Helen F. Sneddon, Darren L. Poole, Callum J. Hall, John W. Hanrahan, David Y. Thomas   +9 more
doaj   +1 more source