Publications - Page 43 sur 57 - RespiFIL - Filière de santé des maladies respiratoires rares

Voici les publications scientifiques relatives aux maladies respiratoires rares auxquelles les membres de la filière ont contribué, classées par groupes de pathologies (depuis juillet 2021).

Dyskinésies ciliaires primitives (DCP)
High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia.

Legendre M, Thouvenin G, Taytard J, Baron M, Le Bourgeois M, Tamalet A, Mani R, Jouvion G, Amselem S, Escudier E, Beydon N.

Ann Am Thorac Soc. 2022 Oct;19(10):1704-1712.
Dyskinésies ciliaires primitives (DCP)
Lung function from school age to adulthood in primary ciliary dyskinesia.

Halbeisen FS, Pedersen ESL, Goutaki M, Spycher BD, Amirav I, Boon M, Cohen-Cymberknoh M, Crowley S, Emiralioglu N, Haarman EG, Karadag B, Koerner-Rettberg C, Latzin P, Loebinger MR, Lucas JS, Mazurek H, Morgan L, Marthin J, Pohunek P, Santamaria F, Schwerk N, Thouvenin G, Yiallouros P, Nielsen KG, Kuehni CE.

Eur Respir J. 2022 Oct 20;60(4):2101918.
Dilatation des bronches ou bronchectasies (non CF, non DCP)
Criteria and definitions for the radiological and clinical diagnosis of bronchiectasis in adults for use in clinical trials: international consensus recommendations.

Aliberti S, Goeminne PC, O'Donnell AE, Aksamit TR, Al-Jahdali H, Barker AF, Blasi F, Boersma WG, Crichton ML, De Soyza A, Dimakou KE, Elborn SJ, Feldman C, Tiddens H, Haworth CS, Hill AT, Loebinger MR, Martinez-Garcia MA, Meerburg JJ, Menendez R, Morgan LC, Murris MS, Polverino E, Ringshausen FC, Shteinberg M, Sverzellati N, Tino G, Torres A, Vandendriessche T, Vendrell M, Welte T, Wilson R, Wong CA, Chalmers JD.

Lancet Respir Med. 2022 Mar;10(3):298-306.
Dilatation des bronches ou bronchectasies (non CF, non DCP)
[Lung transplantation for cystic fibrosis and bronchiectasis].

Renaud-Picard B, Tissot A, Burgel PR, Grenet D, de Miranda S, Coiffard B.

Rev Mal Respir. 2023 Jan 6:S0761-8425(22)00468-5.
Déficit en alpha1-antitrypsine (DAAT)
[French clinical practice guidelines for the diagnosis and management of lung disease with alpha 1-antitrypsin deficiency].

Mornex JF, Balduyck M, Bouchecareilh M, Cuvelier A, Epaud R, Kerjouan M, Le Rouzic O, Pison C, Plantier L, Pujazon MC, Reynaud-Gaubert M, Toutain A, Trumbic B, Willemin MC, Zysman M, Brun O, Campana M, Chabot F, Chamouard V, Dechomet M, Fauve J, Girerd B, Gnakamene C, Lefrançois S, Lombard JN, Maitre B, Maynié-François C, Moerman A, Payancé A, Reix P, Revel D, Revel MP, Schuers M, Terrioux P, Theron D, Willersinn F, Cottin V, Mal H.

Rev Mal Respir. 2022 Sep;39(7):633-656.
Déficit en alpha1-antitrypsine (DAAT)
[Alpha1-antitrypsin deficiency: French guidelines… at last !].

Mornex JF, Balduyck M, Cuvelier A, Cottin V, Mal H.

Rev Mal Respir. 2022 Sep;39(7):575-577.
Déficit en alpha1-antitrypsine (DAAT)
[Alpha 1-antitrypsin deficiency]

Mornex JF.

Rev Mal Respir. 2022 Oct;39(8):698-707.
Anomalies du contrôle respiratoire
Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France.

Dudoignon B, Denjoy I, Patout M, Matrot B, Gallego J, Bokov P, Delclaux C.

Pediatr Res. 2022 Jul 26.
Anomalies du développement pulmonaire (ADP)
Cancer-associated Mutations in Congenital Pulmonary Malformations: A Prospective Cohort

Garinet S, Rahshenas M, Galmiche-Rolland L, Abbo O, Bonnard A, Hameury F, Khen-Dunlop N, Khoshnood B, Blons H, Delacourt C; MALFPULM study group

Am J Respir Crit Care Med. 2022 Oct 26.
Anomalies du développement pulmonaire (ADP)
Elexacaftor/Tezacaftor/Ivacaftor Disrupts Respiratory Tract Development in a Murine Fetal Lung Explant Model

Lhuillier M, Aoust L, Dreano E, Franco-Montoya ML, Landry-Truchon K, Houde N, Chhun S, Hinzpeter A, Edelman A, Delacourt C, Jeannotte L, Sermet-Gaudelus I, Hadchouel A

Am J Respir Cell Mol Biol. 2022 Dec;67(6):723-726.

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High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia.

Lung function from school age to adulthood in primary ciliary dyskinesia.

Criteria and definitions for the radiological and clinical diagnosis of bronchiectasis in adults for use in clinical trials: international consensus recommendations.

[Lung transplantation for cystic fibrosis and bronchiectasis].

[French clinical practice guidelines for the diagnosis and management of lung disease with alpha 1-antitrypsin deficiency].

[Alpha1-antitrypsin deficiency: French guidelines… at last !].

[Alpha 1-antitrypsin deficiency]

Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France.

Cancer-associated Mutations in Congenital Pulmonary Malformations: A Prospective Cohort

Elexacaftor/Tezacaftor/Ivacaftor Disrupts Respiratory Tract Development in a Murine Fetal Lung Explant Model