Results 1 to 10 of about 4,367 (200)

Elexacaftor/Tezacaftor/Ivacaftor Population Pharmacokinetics in Pediatric Patients With Cystic Fibrosis [PDF]

Clinical and Translational Science
Elexacaftor/tezacaftor/ivacaftor (ETI) significantly improves treatment outcomes for people with cystic fibrosis (pwCF) with at least one F508del allele. In 2023, the Food and Drug Administration approved ETI for children with CF aged 2–5 years. However,
Ngoc Hoa Truong, Sihem Benaboud, Naïm Bouazza, Mahassen Barboura, Emmanuelle Bardin, Michel Miralles, Gabrielle Lui, Léo Froelicher‐Bournaud, Steeve Rouillon, Tiphaine Bihouee, Stéphanie Bui, Philippe Reix, Marie‐Laure Dalphin, Muriel Laurans, Jeanne Languepin, Harriet Corvol, Françoise Troussier, Laurence Weiss, Rames Cinthia, Aurélie Tatopoulos, Eric Deneuville, Raphael Chiron, Nathalie Stremler, Cathy Llerena, Sophie Ramel, Caroline Perisson, Véronique Houdoin, Marie Mittaine, Jean‐Marc Treluyer, Isabelle Sermet‐Gaudelus, Frantz Foissac, MODUL‐CF study group   +31 more
doaj   +3 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 ...
C. Ferec
semanticscholar   +4 more sources

Physiologically Based Pharmacokinetic Modeling of Elexacaftor/Tezacaftor/Ivacaftor in Infants With Cystic Fibrosis. [PDF]

CPT Pharmacometrics Syst Pharmacol
ABSTRACT Ivacaftor is the only cystic fibrosis transmembrane conductance regulator modulator approved for infants ≥ 1 month. The elexacaftor/tezacaftor/ivacaftor combination, approved for children aged ≥ 2 years, has been shown to significantly slow CF progression.
Truong NH, Benaboud S, Bouazza N, Deneuville E, Mornand A, Reix P, Ribault M, Burgel PR, Froelicher-Bournaud L, Rouillon S, Sanoufi MR, Lui G, Urien S, Tréluyer JM, Sermet-Gaudelus I, Foissac F, Modul‐CF study group.   +16 more
europepmc   +2 more sources

Feasibility and Tolerance of High-Intensity Interval Training in Adults With Cystic Fibrosis [PDF]

Archives of Rehabilitation Research and Clinical Translation
Objectives: To assess the feasibility and the tolerance of a high-intensity interval training (HIIT) program compared with conventional rehabilitation during a 3-week hospital stay in adults with cystic fibrosis (CF) and to analyze the effectiveness and ...
Laurent Mely, PhD, Olivier Meurisse, PT, Laurene Norberciak, PhD, Morgane Auffret, CRNs, Nadège Goriot-Raynaud, NPs, Marion Buyse, PhD, Sophie Ramel, MD   +6 more
doaj   +2 more sources

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

Persistence of lung hyperinflation and small airway dysfunction in school-aged children with cystic fibrosis treated with elexacaftor–tezacaftor–ivacaftor: results from the real-world MODUL-CF study [PDF]

ERJ Open Research
Background Trapped gas (TG) and ventilation inhomogeneity (VI) are early markers of altered small airway function (SAF) in cystic fibrosis (CF) lung disease.
Lucie Colin, Véronique Delaup, Muriel Le Bourgeois, Véronique Neve, Nathalie Wizla-Derambure, Iulia-Cristina Ioan, Aurélie Tatopoulos, Sebastien Kieffer, Aurore Blonde, Plamen Bokov, Véronique Houdoin, Laurence Le Clainche, Audrey Barzic, Camille Ohlmann, Tom Toin, Thomas Perrin, Laurianne Coutier, Rola Abou Taam, Anne-Sophie Bonnel, Anthony Rignani, Hala Feghali, Stephanie Bui, Michael Fayon, Alexia Letierce, Isabelle Sermet-Gaudelus, Philippe Reix   +25 more
doaj   +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

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

3D Automated Segmentation of Bronchial Abnormalities on Ultrashort Echo Time MRI: A Quantitative MR Outcome in Cystic Fibrosis. [PDF]

J Magn Reson Imaging
ABSTRACT Background Cystic fibrosis (CF) monitoring relies on computed tomography (CT), but ultra‐short echo time MRI (UTE‐MRI) offers a radiation‐free alternative. However, its clinical adoption is hindered by the laborious and subjective manual analysis, which prevents standardized quantification of bronchial abnormalities.
Bouzid AIH, Benlala I, de Senneville BD, Baldacci F, Macey J, Benhassen W, Su P, Bui S, Zysman M, Bustin A, Berger P, Dournes G.   +11 more
europepmc   +2 more sources

Beyond Trikafta: new models to assess tissue dependent rescue of N1303K-CFTR [PDF]

Frontiers in Pharmacology
RationaleRespiratory status of people with Cystic Fibrosis (pwCF) carrying N1303K is improved by Elexacaftor/Tezacaftor/Ivacaftor (ETI) but, contrary to other mutations, the impact on sweat test results is limited.MethodsTo explore this discrepancy, we ...
Iwona Pranke, Iwona Pranke, Valeria Capurro, Benoit Chevalier, Benoit Chevalier, Emanuela Pesce, Valeria Tomati, Cristina Pastorino, Mairead Kelly-Aubert, Mairead Kelly-Aubert, Aurelie Hatton, Aurelie Hatton, Elise Dreano, Elise Dreano, Mariateresa Lena, Mariateresa Lena, Renata Bocciardi, Renata Bocciardi, Federico Zara, Federico Zara, Stefano Pantano, Vito Terlizzi, Cristina Lucanto, Stefano Costa, Laura Claut, Valeria Daccò, Piercarlo Poli, Massimo Maschio, Benedetta Fabrizzi, Benedetta Fabrizzi, Nicole Caporelli, Nicole Caporelli, Marco Cipolli, Sonia Volpi, Frederique Chedevergne, Laure Cosson, Julie Macey, Sophie Ramel, Laurence Weiss, Dominique Grenet, Laurence Le Clainche-Viala, Benoit Douvry, Bruno Ravoninjatovo, Camille Audousset, Aurélie Tatopoulos, Bénédicte Richaud-Thiriez, Melissa Baravalle, Guillaume Thouvenin, Guillaume Labbé, Marie Mittaine, Philippe Reix, Isabelle Durieu, Julie Mankikian, Stéphanie Bui, Thao Nguyen-Khoa, Thao Nguyen-Khoa, Thao Nguyen-Khoa, Karim Khoukh, Clémence Martin, Clémence Martin, Clémence Martin, Jennifer Da Silva, Jennifer Da Silva, Paola De Carli, Carlo Castellani, Federico Cresta, Luis Galietta, Anne Guillemaut, Emmanuelle Girodon, Emmanuelle Girodon, Emmanuelle Girodon, Natacha Remus, Mattijs Bulcaen, Marjolein Ensinck, Miroslaw Zajac, Marianne Carlon, Jean LeBihan, Pierre-Régis Burgel, Pierre-Régis Burgel, Pierre-Régis Burgel, Pierre-Régis Burgel, Isabelle Sermet-Gaudelus, Isabelle Sermet-Gaudelus, Isabelle Sermet-Gaudelus, Isabelle Sermet-Gaudelus, Alexandre Hinzpeter, Alexandre Hinzpeter, Nicoletta Pedemonte   +87 more
doaj   +2 more sources