Results 41 to 50 of about 5,413 (194)

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

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

Genetic screening as a technique of government: The case of neonatal screening for cystic fibrosis in France

, 2006
International audienceThe biomedicalization process and the rise of genetics that have occurred in the last decades involve political issues concerning subjects in biomedicine who are in a position to act and make choices.
Vailly, Joëlle
core   +4 more sources

L'observance thérapeutique chez les enfants âgés de 8 à 12 ans atteints de mucoviscidose: facteurs influençant et interventions liées : travail de Bachelor [PDF]

, 2014
Problématique : La mucoviscidose est une maladie génétique fréquente et incurable, qui affecte plusieurs organes. Grâce aux avancées médicales, les personnes atteintes survivent beaucoup plus longtemps.
Carli, Tiffany, Domergue, Delphine, Maupetit, Christine   +2 more
core  

Exposition domiciliaire aux moisissures : quel impact sur le statut aspergillaire du patient atteint de mucoviscidose ?

, 2015
National ...
Belaz, S., Chevrier, S., Deneuville, E., Frain, S., Gangneux, Jean-Pierre, Pricope, D., Roussey, M.   +6 more
core   +4 more sources

In vitroprediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study [PDF]

, 2007
Background Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which acts as a chloride channel activated by cyclic AMP (cAMP).
Isabelle Sermet-Gaudelus, Michel Renouil, Anne Fajac, Laure Bidou, Bastien Parbaille, Sébastien Pierrot, Nolwen Davy, Elise Bismuth, Philippe Reinert, Gérard Lenoir, Jean François Lesure, Jean Pierre Rousset, Aleksander Edelman   +12 more
core   +2 more sources

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

La transition des soins des adolescents atteints de mucoviscidose passant d'un centre pédiatrique à un service de soins pour adultes: interventions infirmières : une revue de littérature étoffée [PDF]

, 2014
L’espérance de vie des enfants atteint de mucoviscidose a considérablement augmenté ces dernières années. Afin d’offrir des soins adaptés à cette nouvelle population atteinte de mucoviscidose, des centres pour adultes ont dû être développés.
Lerch, Naïma, Lötscher, Ruth, Moser, Anne-Sophie   +2 more
core  

L’incontinence urinaire en cas de BPCO [PDF]

, 2016
Harninkontinenz ist bei COPD-PatientInnen sehr häufig. Deshalb sollte in der Atmungs- und Trainingstherapie der Beckenboden routinemässig integriert werden.L’incontinence urinaire est très fréquente chez les patients atteints de BPCO.
Ernst, Anja, Köhler, Barbara
core   +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