Zobrazeno 1 - 10
of 261
pro vyhledávání: '"Juliane, Léger"'
Autor:
Beatriz Carmona-Hidalgo, Carmen Martín-Gómez, Estefanía Herrera-Ramos, Rocío Rodríguez-López, Laia-Nou Fontanet, José C Moreno, Juan Antonio Blasco-Amaro, Juliane Léger, Juan Dario-Ortigoza-Escobar, NKX2-1-Related Disorders Guideline Working Group
Publikováno v:
PLoS ONE, Vol 19, Iss 7, p e0303880 (2024)
BackgroundNKX2-1-related disorders (NKX2-1-RD) are rare conditions affecting lung, thyroid, and brain development, primarily caused by pathogenic variants or deletions in the NKX2-1 gene. Congenital hypothyroidism (CH) is a common endocrine manifesta
Externí odkaz:
https://doaj.org/article/2ae2fce3f2224c18bdfb5ae949d87b7f
Autor:
Christiaan F Mooij, Timothy D Cheetham, Frederik A Verburg, Anja Eckstein, Simon H Pearce, Juliane Léger, A S Paul van Trotsenburg
Publikováno v:
European Thyroid Journal, Vol 11, Iss 1, Pp 1-17 (2023)
Hyperthyroidism caused by Graves’ disease (GD) is a relatively rare disease in children. Treatment options are the same as in adults – antithyroid drugs (ATD), radioactive iodine (RAI) or thyroid surgery, but the risks and benefits of e ach modal
Externí odkaz:
https://doaj.org/article/2461cbd90f64406694490ea2953d161d
Autor:
Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, Gianpaolo De Filippo, Anne Bachelot, Clemence Delcour, Constance Beyler, Emilie Bois, Emmanuelle Bourrat, Emmanuel Bui Quoc, Nathalie Bourcigaux, Catherine Chaussain, Ariel Cohen, Martine Cohen-Solal, Sabrina Da Costa, Claire Dossier, Stephane Ederhy, Monique Elmaleh, Laurence Iserin, Hélène Lengliné, Armelle Poujol-Robert, Dominique Roulot, Jerome Viala, Frederique Albarel, Elise Bismuth, Valérie Bernard, Claire Bouvattier, Aude Brac, Patricia Bretones, Nathalie Chabbert-Buffet, Philippe Chanson, Regis Coutant, Marguerite de Warren, Béatrice Demaret, Lise Duranteau, Florence Eustache, Lydie Gautheret, Georges Gelwane, Claire Gourbesville, Mickaël Grynberg, Karinne Gueniche, Carina Jorgensen, Veronique Kerlan, Charlotte Lebrun, Christine Lefevre, Françoise Lorenzini, Sylvie Manouvrier, Catherine Pienkowski, Rachel Reynaud, Yves Reznik, Jean-Pierre Siffroi, Anne-Claude Tabet, Maithé Tauber, Vanessa Vautier, Igor Tauveron, Sebastien Wambre, Delphine Zenaty, Irène Netchine, Michel Polak, Philippe Touraine, Jean-Claude Carel, Sophie Christin-Maitre, Juliane Léger
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss S1, Pp 1-39 (2022)
Abstract Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40
Externí odkaz:
https://doaj.org/article/47d7e0d1bd19414b82a3ff48728cebb1
Autor:
Carmen Martín-Gómez, Juan Dario Ortigoza-Escobar, Laia Nou-Fontanet, Juan M Molina-Linde, Anne-Catherine Bachoud-Lévi, Juliane Léger, Juan Antonio Blasco-Amaro, NKX2-1-Related Disorders Guideline Working Group
Publikováno v:
PLoS ONE, Vol 18, Iss 2, p e0281573 (2023)
BackgroundNKX2-1-related disorders have a prevalence of 1:500,000 and are therefore considered a rare condition according to the European Commission's definition. The European Reference Network of Rare Neurological Disorders is developing the first c
Externí odkaz:
https://doaj.org/article/f568810fea374e8290a654eb8c4802c5
Autor:
Wafa Kallali, Claude Messiaen, Roumaisah Saïdi, Soucounda Lessim, Magali Viaud, Jerome Dulon, Mariana Nedelcu, Dinane Samara, Muriel Houang, Bruno Donadille, Carine Courtillot, GianPaolo de Filippo, Jean-Claude Carel, Sophie Christin-Maitre, Philippe Touraine, Irene Netchine, Michel Polak, Juliane Léger
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background For chronic congenital endocrine conditions, age at diagnosis is a key issue with implications for optimal management and psychological concerns. These conditions are associated with an increase in the risk of comorbid conditions,
Externí odkaz:
https://doaj.org/article/79b41a6fc9394c23a15be96f2a7348c6
Autor:
Margaux Laulhé, Cécile Dumaine, Didier Chevenne, Fallou Leye, Albert Faye, Blandine Dozières, Marion Strullu, Jérome Viala, Julien Hogan, Véronique Houdouin, Juliane Léger, Dominique Simon, Jean-Claude Carel, Caroline Storey, Sophie Guilmin-Crépon, Laetitia Martinerie
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
ObjectivesGlucocorticoid-induced adrenal insufficiency (GI-AI) is a common side effect of glucocorticoid therapy. However, its diagnosis currently relies on the realization of a Low Dose Short Synacthen Test (LD-SST) that requires an outpatient hospi
Externí odkaz:
https://doaj.org/article/34163a13c7784af791f356b2609c59a9
Autor:
Enora Le Roux, Florence Menesguen, Isabelle Tejedor, Marc Popelier, Marine Halbron, Pauline Faucher, Sabine Malivoir, Graziella Pinto, Juliane Léger, Stephane Hatem, Michel Polak, Christine Poitou, Philippe Touraine
Publikováno v:
Endocrine Connections, Vol 10, Iss 1, Pp 21-28 (2021)
Objective: The transition from paediatric to adult medicine involves risks of poor patient outcomes and of significant losses of patients to follow up. The research aimed to analyse the implementation in an initial cohort of patients of a new program
Externí odkaz:
https://doaj.org/article/1dca0c48984f4ee5a33b613b67f4e86b
Autor:
Julia Clarke, Hugo Peyre, Marianne Alison, Anne Bargiacchi, Coline Stordeur, Priscilla Boizeau, Grégor Mamou, Sophie Guilmin Crépon, Corinne Alberti, Juliane Léger, Richard Delorme
Publikováno v:
Journal of Eating Disorders, Vol 9, Iss 1, Pp 1-8 (2021)
Abstract Background Early-onset anorexia nervosa (EO-AN) represents a significant clinical burden to paediatric and mental health services. The impact of EO-AN on bone mineral abnormalities has not been thoroughly investigated due to inadequate contr
Externí odkaz:
https://doaj.org/article/14ead765d28c459b84075737b21dc10d
Autor:
Daphné Karila, Bruno Donadille, Juliane Léger, Claire Bouvattier, Anne Bachelot, Veronique Kerlan, Sophie Catteau-Jonard, Sylvie Salenave, Frédérique Albarel, Claire Briet, Regis Coutant, Aude Brac De La Perriere, Alexander Valent, Jean-Pierre Siffroi, Sophie Christin-Maitre
Publikováno v:
European Journal of Endocrinology
European Journal of Endocrinology, 2022, pp.EJE-22-0593. ⟨10.1530/EJE-22-0593⟩
European Journal of Endocrinology, 2022, pp.EJE-22-0593. ⟨10.1530/EJE-22-0593⟩
Introduction A gonadectomy is currently recommended in patients with Turner syndrome (TS) and a 45,X/46,XY karyotype, due to a potential risk of gonadoblastoma (GB). However, the quality of evidence behind this recommendation is low. Objective This s
Autor:
Juliane Léger, Anne Fjellestad-Paulsen, Anne Bargiacchi, Catherine Doyen, Emmanuel Ecosse, Jean-Claude Carel, Marie-France Le Heuzey
Publikováno v:
Endocrine Connections, Vol 6, Iss 8, Pp 839-846 (2017)
Background/Aims: Growth failure is a difficult but key aspect of care in children with anorexia nervosa (AN). The effects of hGH therapy have not been studied. The aim was to investigate the effect of hGH treatment on height velocity (HV) in children
Externí odkaz:
https://doaj.org/article/2ff8e75364f745918aedc0b8fe093669