Results 11 to 20 of about 5,453 (193)

Beyond the Lung. Impact of Elexacaftor/Tezacaftor/Ivacaftor on Sinonasal Disease in Children With Cystic Fibrosis. [PDF]

Int Forum Allergy Rhinol
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, Letierce A, Bonnel AS, Reix P, Deneuville E, Stremler N, Luscan R, Couloigner V, Mely L, Bessaci K, Labbe G, Marguet C, Kelly-Aubert M, Hassani F, Sermet-Gaudelus I, Simon F, MODUL‐CF Study Group.   +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]

Prenat Diagn
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, Gravrand V, Guerini C, Anselem O, Vaucouleur N, Boimard LO, Ben Ouazzou R, Demirtas C, Leturcq F, Bienvenu T, Tsatsaris V, Pannier E, Nectoux J.   +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]

Pediatr Pulmonol
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, Deygas F, Belhassen M, Berard M, Van Ganse E, Sermet-Gaudelus I, Tiaiba S, Dubus JC, Durieu I, Reix P.   +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]

Chem Biol Drug Des
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, Mishra S, Kumar G, Seboletswe P, Roquet-Banères F, Foubert M, Kremer L, Karpoormath R, Singh P.   +8 more
europepmc   +2 more sources

Rational Design and Antimycobacterial Evaluation of Aryl Sulfonamide-Linked Isoniazid Hydrazones Against Mycobacterium Tuberculosis. [PDF]

ChemMedChem
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, Mishra S, Kumar G, Seboletswe P, Kajee A, Ankit, Roquet-Banères F, Foubert M, Kremer L, Karpoormath R, Singh P.   +10 more
europepmc   +2 more sources

La mucoviscidose [PDF]

Cahiers de la Puéricultrice, 2021
La mucoviscidose est, aujourd’hui, une maladie devenue chronique chez l’adulte. Les progrès dans la connaissance de la physiopathologie de cette maladie, de sa prise en charge, de l’organisation des soins, du diagnostic, et de la thérapeutie, sont à mettre au crédit de la découverte en 1989 du gène responsable de cette maladie, le gène CFTR (cystic ...
openaire   +2 more sources

Airway Mycobiota-Microbiota During Pulmonary Exacerbation of Cystic Fibrosis Patients: A Culture and Targeted Sequencing Study. [PDF]

Mycoses
ABSTRACT Background The airways of patients with cystic fibrosis (pwCF) harbour complex fungal and bacterial microbiota involved in pulmonary exacerbations (PEx) and requiring antimicrobial treatment. Descriptive studies analysing bacterial and fungal microbiota concomitantly are scarce, especially using both culture and high‐throughput‐sequencing (HTS)
Angebault C, Vandenborght LE, Bassinet L, Wizla N, Ferroni A, Dessein R, Remus N, Thumerelle C, Fauchet N, Epaud R, Delhaes L, Botterel F.   +11 more
europepmc   +2 more sources

Beneficial short-term effect of autogenic drainage on peripheral resistance in childhood cystic fibrosis disease

BMC Pulmonary Medicine, 2022
Background Airway clearance techniques are supposed to be a necessary adjunct for the enhancement of impaired peripheral clearance in cystic fibrosis (CF).
Plamen Bokov, Michèle Gerardin, Géraldine Brialix, Emmanuelle Da Costa Noble, Romain Juif, Antonia Vital Foucher, Laurence Le Clainche, Véronique Houdouin, Benjamin Mauroy, Christophe Delclaux   +9 more
doaj   +1 more source

The validated French CFAbd-Score reveals a lower burden of gastrointestinal symptoms in patients on Elexacaftor/Tezacaftor/Ivacaftor. [PDF]

J Pediatr Gastroenterol Nutr
Abstract Objectives Multiorgan abdominal involvement is a hallmark of Cystic fibrosis (CF). The CFAbd‐Score© is the first CF‐specific gastrointestinal patient reported outcome‐measure (PROM) developed following FDA‐guidelines. The PROM has proved to sensitively differentiate people with CF (pwCF) from healthy controls (HC).
Sermet-Gaudelus I, Sadrieh P, Bonnel AS, Enaud R, Wizla N, Languepin J, Nangui A, Deelawon A, Rave J, Dabelow S, Barucha A, Zagoya C, Duckstein F, Mainz JG.   +13 more
europepmc   +2 more sources

Estudo da freqüência de diabetes mellitus e intolerância à glicose em pacientes com fibrose cística Study of the frequency of diabetes mellitus and glucose intolerance in patients with cystic fibrosis

Jornal de Pediatria, 2001
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, Maria I.M. Fernandes, Renan M. Montenegro Júnior, Milton C. Foss   +3 more
doaj   +1 more source