Results 41 to 50 of about 5,761 (217)

Diagnostic néonatal et recompositions temporelles: Le cas de la mucoviscidose [PDF]

, 2014
International audienceCet article a pour objectif de reconstituer la structuration temporelle qui cadre le protocole diagnostique et l’annonce d’une maladie rare, la mucoviscidose.
Langeard, Chloé, Minguet, Guy
core   +5 more sources

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

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

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

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

Mucoviscidose: apresentação de um caso. [PDF]

, 1982
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Maresch, Bruno A
core  

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

Proteomic profiling of sweat in patients with cystic fibrosis provides new insights into epidermal homoeostasis

Skin Health and Disease, 2023
Background A high proportion of patients with Cystic Fibrosis (CF) also present the rare skin disease aquagenic palmoplantar keratoderma. A possible link between this condition and absence of a functional CF Transmembrane conductance Regulator protein in
Matthieu Cornet, Thao Nguyen‐Khoa, Mairead Kelly‐Aubert, Vincent Jung, Frédérique Chedevergne, Muriel Le Bourgeois, Laura Aoust, Kévin Roger, Chiara Ida Guerrera, Isabelle Sermet‐Gaudelus   +9 more
doaj   +1 more source

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  

Mécanismes et conséquences des mutations [PDF]

, 2005
L’identification des mutations à l’origine de maladies génétiques chez l’homme a pris ces dernières années un essor considérable. Il est devenu possible d’établir le spectre des mutations délétères pour une maladie génétique donnée, et des bases de ...
Hanna, Nadine, Parfait, Béatrice, Vidaud, Dominique, Vidaud, Michel   +3 more
core   +1 more source