Beyond the Lung. Impact of Elexacaftor/Tezacaftor/Ivacaftor on Sinonasal Disease in Children With Cystic Fibrosis. [PDF]
ABSTRACT Background Elexacaftor/tezacaftor/ivacaftor (ETI) is a Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) therapy that improves pulmonary function and chronic rhinosinusitis (CRS) in cystic fibrosis (CF) adults with at least one copy of the F508del CFTR mutation.
Petitjean M +16 more
europepmc +2 more sources
The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia. [PDF]
ABSTRACT Objectives Achondroplasia is the most common form of skeletal dysplasia and is usually suspected in the third trimester of pregnancy based on abnormal sonographic findings. Non‐invasive prenatal diagnosis (NIPD), based on the detection of pathogenic FGFR3 variants in maternal plasma, provides an accurate genetic confirmation.
Verebi C +12 more
europepmc +2 more sources
Newborn Screening for Cystic Fibrosis Is Associated With the Lowest Healthcare Costs: A 10-Year Observational Follow-Up Study in France. [PDF]
ABSTRACT Objectives This study aims to study the healthcare (HC) costs associated with cystic fibrosis (CF) in children diagnosed prenatally (ANT), through newborn screening (NBS), after birth due to meconium ileus (MI), or later based on symptoms (LS).
Guyot E +9 more
europepmc +2 more sources
Rationally Designed InhA Inhibitors: A Comparative Anti-Tubercular Activity Study of Sulfonate Esters of Isoniazid Hydrazones and Their Structurally Flexible Benzyl Analogues. [PDF]
A comparative anti‐tubercular evaluation of sulfonate esters of isoniazid hydrazones and their structurally flexible benzyl analogues disclosed several potent compounds against Mycobacterium tuberculosis with the representative compound displaying an MIC of 0.078 μg/mL.
Kadima MG +8 more
europepmc +2 more sources
Corrigendum: Long term NIV in an infant with Hallermann-Streiff syndrome: a case report and overview of respiratory morbidity [PDF]
S. Guerin +4 more
doaj +2 more sources
Rational Design and Antimycobacterial Evaluation of Aryl Sulfonamide-Linked Isoniazid Hydrazones Against Mycobacterium Tuberculosis. [PDF]
Molecular docking shows that ligands 8 (a–i) adopt a U‐shaped geometry in the InhA active site, enabling stronger interactions than 7 (j–r). Surprisingly, both sets display similar potency, indicating that factors like electronic effects or solvation also influence anti‐TB activity.
Kadima MG +10 more
europepmc +2 more sources
Lung organoids as a human system for Mycobacteria infection modeling and drug testing. [PDF]
Mycobacterial infections, including tuberculosis (TB) and infections by nontuberculous mycobacteria (NTM), are still public health issues. In 2023, TB caused 1.25 million deaths, while NTM remain a clinical challenge for patients with cystic fibrosis (CF).
Leon-Icaza SA +4 more
europepmc +2 more sources
OBJETIVO: avaliar a freqüência de diabetes mellitus (DM) e de intolerância à glicose nos pacientes com fibrose cística seguidos no Serviço de Gastropediatria do HC-FMRP-USP.
Flávia A.A. de Castro +3 more
doaj +1 more source
Bacteria belonging to the genus Achromobacter are increasingly isolated from respiratory samples of people with cystic fibrosis (PWCF). The management of this multidrug-resistant genus is challenging and characterised by a lack of international ...
Clémence Beauruelle +10 more
doaj +1 more source
The original article [1] contains errors in Table 1 affecting some of the presented oligonucleotide sequences and readthrough values in Table 1.
I. Sermet-Gaudelus +12 more
doaj +1 more source

