Results 31 to 40 of about 1,531 (166)

Prevalência da mutação ΔF508 no gene cystic fibrosis transmembrane conductance regulator em pacientes com fibrose cística em um centro de referência no Brasil

Jornal de Pediatria, 2012
OBJETIVO: Verificar a presença da mutação ΔF508 no gene cystic fibrosis transmembrane conductance regulator na população de pacientes com fibrose cística, diagnosticados pelo teste de sódio e cloro no suor, em acompanhamento no Ambulatório de Pneumologia
Andréia Marisa Bieger, Fernando Augusto de Lima Marson, Carmen Sílvia Bertuzzo   +2 more
doaj   +1 more source

TLR3 promotes MMP-9 production in primary human airway epithelial cells through Wnt/β-catenin signaling

Respiratory Research, 2017
Background Airway epithelial cells (AEC) act as the first line of defence in case of lung infections. They constitute a physical barrier against pathogens and they participate in the initiation of the immune response.
P.-J. Royer, K. Henrio, M. Pain, J. Loy, A. Roux, A. Tissot, P. Lacoste, C. Pison, S. Brouard, A. Magnan, the COLT consortium   +10 more
doaj   +1 more source

The Prognosis of ART Is Not Altered in Cystic Fibrosis Women: A Case-Report Study

Frontiers in Endocrinology, 2022
Research QuestionUnlike in men, a very limited number of studies were focused on the specificity of ART management of cystic fibrosis (CF) in women. The purpose of this study was to determine the causes of infertility in patients, the appropriate ART ...
Inès Braham, Adeline Morisot, Samir Boukaïdi, Marie Perceval, Isabelle Durieu, Christine Rousset-Jablonski, Sylvie Hieronimus, Sylvie Leroy, Nicolas Chevalier, Nicolas Chevalier   +9 more
doaj   +1 more source

The gut-lung axis in the CFTR modulator era

Frontiers in Cellular and Infection Microbiology, 2023
The advent of CFTR modulators represents a turning point in the history of cystic fibrosis (CF) management, changing profoundly the disease’s clinical course by improving mucosal hydration.
Florian Lussac-Sorton, Florian Lussac-Sorton, Éléna Charpentier, Éléna Charpentier, Sébastien Imbert, Sébastien Imbert, Sébastien Imbert, Maxime Lefranc, Stéphanie Bui, Stéphanie Bui, Stéphanie Bui, Michael Fayon, Michael Fayon, Michael Fayon, Patrick Berger, Patrick Berger, Patrick Berger, Raphaël Enaud, Raphaël Enaud, Raphaël Enaud, Laurence Delhaes, Laurence Delhaes, Laurence Delhaes   +22 more
doaj   +1 more source

Neonatal low respiratory tract chlamydia trachomatis infection: Diagnostic and treatment management

Respiratory Medicine Case Reports, 2019
Maternal infection during pregnancy by Chlamydia trachomatis (Chlamydia t.) can result in neonatal interstitial lung disease. It remains difficult for physicians to establish this diagnosis and to select the best treatment, as there is no recommendation.
M. Jouglet, I. Wuillaume, C. Buchs, P. Reix, C. Schweitzer, L. Coutier   +5 more
doaj   +1 more source

Long term NIV in an infant with Hallermann-Streiff syndrome: A case report and overview of respiratory morbidity

Frontiers in Pediatrics, 2022
Hallermann-Streiff syndrome (HSS) is a rare congenital syndrome with different anomalies including midface hypoplasia, beak nose and micrognathia. The upper airways narrowness can lead to severe respiratory complications such as obstructive sleep apnoea ...
S Guerin, S Blanchon, Q de Halleux, V Bayon, T Ferry   +4 more
doaj   +1 more source

A descriptive case series of hepatotoxicity associated with CFTR modulators and possible relevance of pharmacogenetic polymorphisms in cystic fibrosis patients

British Journal of Clinical Pharmacology, EarlyView.
Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are widely used in patients with cystic fibrosis and significantly improve respiratory function and quality of life. However, their effectiveness may be limited by liver damage, which sometimes leads to treatment discontinuation, and the mechanisms underlying this remain poorly ...
Clara Laffitte Redondo, Venceslas Bourdin, Abd El Kader Ait Tayeb, Sihem Benaboud, Inès Martins, Caroline Joyau, Myriam Benhamida, Isabelle Sermet‐Gaudelus, Clémence Martin, Pierre Régis Burgel, Céline Verstuyft, Laurent Chouchana, Estelle Ayme‐Dietrich   +12 more
wiley   +1 more source

Mucoviscidose com sintomatologia respiratória no período neonatal.

Acta Médica Portuguesa, 1997
A case of cystic fibrosis presented in the neonatal period with respiratory symptomatology associated with early pancreatic insufficiency is reported. The CFTR gene molecular analysis was found to be a compound heterozygotes for delta F508 and G542X. The
S Lamy, L P da Silva, B Lopes, P Pacheco, J Lavinha, J M Amaral, J M Marques   +6 more
doaj   +1 more source

Trans-Atlantic collaboration: applying lessons learned from the US CF Foundation quality improvement initiative

Orphanet Journal of Rare Diseases, 2018
Background Between 2002 and 2006 France launched a national cystic fibrois (CF) newborn screening program; organized a network of specialized CF care centers; and issued CF diagnostic and treatment standards.
Kathryn A. Sabadosa, Marjorie M. Godfrey, Bruce C. Marshall   +2 more
doaj   +1 more source

The validated French CFAbd‐Score reveals a lower burden of gastrointestinal symptoms in patients on Elexacaftor/Tezacaftor/Ivacaftor

Journal of Pediatric Gastroenterology and Nutrition, Volume 82, Issue 1, Page 24-32, January 2026.
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).
Isabelle Sermet‐Gaudelus, Pauline Sadrieh, Anne Sophie Bonnel, Raphael Enaud, Nathalie Wizla, Jeanne Languepin, Ambre Nangui, Audrey Deelawon, Johanna Rave, Samira Dabelow, Anton Barucha, Carlos Zagoya, Franziska Duckstein, Jochen Georg Mainz   +13 more
wiley   +1 more source