Overview of patients’ cohorts in the French National rare disease registry

Autor: Thibaut Pichon, Claude Messiaen, Louis Soussand, Céline Angin, Arnaud Sandrin, Nabila Elarouci, Anne-Sophie Jannot, on behalf of the BNDMR infrastructure team

Publikováno v: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-3 (2023)

Abstract In France, all patients followed by Rare Disease (RD) expert centers have to be registered in the National Rare Disease Registry (BNDMR). This database collects a minimum data set including diagnosis coded using the Orphanet nomenclature. Ov

Externí odkaz: https://doaj.org/article/63e18120c0e940c38cf26ee3cd125bba

Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases

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

Healthcare trajectory of children with rare bone disease attending pediatric emergency departments

Autor: David Dawei Yang, Geneviève Baujat, Antoine Neuraz, Nicolas Garcelon, Claude Messiaen, Arnaud Sandrin, Gérard Cheron, Anita Burgun, Zagorka Pejin, Valérie Cormier-Daire, François Angoulvant

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)

Abstract Background Children with rare bone diseases (RBDs), whether medically complex or not, raise multiple issues in emergency situations. The healthcare burden of children with RBD in emergency structures remains unknown. The objective of this st

Externí odkaz: https://doaj.org/article/440bf011fb0a44a7b4c9789b8319b39f

Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases

Autor: Geneviève Baujat, Rémy Choquet, Stéphane Bouée, Viviane Jeanbat, Laurène Courouve, Amélie Ruel, Caroline Michot, Kim-Hanh Le Quan Sang, David Lapidus, Claude Messiaen, Paul Landais, Valérie Cormier-Daire

Publikováno v: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-9 (2017)

Abstract Background Fibrodysplasia ossificans progressiva (FOP) is a rare, severely disabling, and life-shortening genetic disorder that causes the formation of heterotopic bone within soft connective tissue. Previous studies found that the FOP preva

Externí odkaz: https://doaj.org/article/fa5789982ed84d569627d031e2a90e77

The ongoing French BaMaRa-BNDMR cohort: implementation and deployment of a nationwide information system on rare disease

Autor: Anne-Sophie Jannot, Thibaut Pichon, Claude Messiaen, Arnaud Sandrin, Ahlem Khatim

Publikováno v: Journal of the American Medical Informatics Association
Journal of the American Medical Informatics Association, BMJ Publishing Group, 2022, 29 (3), pp.553-558. ⟨10.1093/jamia/ocab237⟩
Journal of the American Medical Informatics Association, 2022, 29 (3), pp.553-558. ⟨10.1093/jamia/ocab237⟩
J Am Med Inform Assoc

Background BaMaRa allows the secure collection and deidentified centralization of medical data from all patients followed-up in a rare disease expert network in France, based on a minimum data set (SDM-MR). The present article describes BaMaRa inform

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f96ff6f81b9f0696716e4b47b5c399b
https://hal.archives-ouvertes.fr/hal-03560936