نتایج جستجو برای: f508del

تعداد نتایج: 539  

2013
Shaoyan Zhang Angela C. Blount Carmel M. McNicholas Daniel F. Skinner Michael Chestnut John C. Kappes Eric J. Sorscher Bradford A. Woodworth

BACKGROUND Chronic rhinosinusitis engenders enormous morbidity in the general population, and is often refractory to medical intervention. Compounds that augment mucociliary clearance in airway epithelia represent a novel treatment strategy for diseases of mucus stasis. A dominant fluid and electrolyte secretory pathway in the nasal airways is governed by the cystic fibrosis transmembrane condu...

Journal: :American Journal of Physiology-Lung Cellular and Molecular Physiology 2017

Journal: :Journal of Cystic Fibrosis 2023

We assessed changes in parameters (CT scan and PFTs) before targeted therapy children with CF during treatment to determine their dynamics. examined 12 (4 boys, 8 girls) treated elexacaftor+/tezacaftor+/ivacaftor (TRICAFTA®), age at the start of therapy: Me = 15.7 ± 1.5 (min 12.3 - max 17.3); mutations (in 5 patients delF508/delF508, rest: delF508/W1282x, F508del/1259insA, delF508/ del2 3-21 kb...

Journal: :Journal of Cystic Fibrosis 2023

Background: Elexacaftor/tezacaftor/ivacaftor (ETI) demonstrated high efficacy in clinical trials that included people with CF (pwCF) FEV1 between 40–90% and later less than 40%. It is unclear if pwCF mild lung disease can have measurable effect of ETI. Aim: To measure the treatment ETI normal/near-normal function (FEV1≥ 70%). Methods: We retrospectively analyzed treated ETI, from all Israeli ce...

Journal: :Journal of inborn errors of metabolism and screening 2023

Cystic fibrosis (CF) is an autosomal recessive disorder and caused by variants in the Fibrosis Transmembrane Conductance Regulator (CFTR) gene. We aimed to study frequency of F508del variant, most common variant worldwide, patients with CF from Paraguay. The Paraguayan a clinical diagnosis was assessed using polymerase chain reaction followed sequencing PCR products. 43 86 (50%) were homozygous...

2011
E. Vanderhelst L. De Meirleir S. Verbanck D. Piérard W. Vincken A. Malfroot

Background: Risk factors for methicillin-resistant Staphylococcus aureus (MRSA) in Cystic Fibrosis (CF) and the impact on CF disease progression are still under debate. The objectives of this study were to determine clinical variables associated with MRSA colonization and examine impact on FEV1 evolution in CF patients. Methods: A retrospective case–control study using the University Hospital o...

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