Nouveautés dans l'ostéogenèse imparfaite: de la recherche à la prise en charge multidisciplinaire [News in osteogenesis imperfecta: from research to clinical management]

Détails

ID Serval
serval:BIB_EE63C48C6156
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Nouveautés dans l'ostéogenèse imparfaite: de la recherche à la prise en charge multidisciplinaire [News in osteogenesis imperfecta: from research to clinical management]
Périodique
Revue medicale suisse
Auteur(s)
Aubry-Rozier B., Unger S., Bregou A., Freymond Morisod M., Vaswani A., Scheider P., Bonafé L.
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Statut éditorial
Publié
Date de publication
18/03/2015
Volume
11
Numéro
466
Pages
657-658,660-662
Langue
français
Notes
Publication types: English Abstract ; Journal Article
Publication Status: ppublish
Résumé
Osteogenesis imperfecta (OI) is a rare genetic disease. Today we are able to propose an adapted and efficient management to the patients with this rare disorder (and their families) thanks to a strong collaboration of clinicians and researchers. Recent knowledge regarding the genetics of OI permits an accurate diagnosis of the specific type of OI and its own molecular mechanism, a genetic counseling for family planning and prenatal diagnosis, and in addition more targeted therapeutic options. A specific support with re-education for patients with OI is necessary and efficient. To optimize patient care, a multidisciplinary consultation is proposed at the CHUV, moreover a web site is available for patients, families and therapists: www.infomaladiesrares.ch

Mots-clé
Female, Genetic Counseling/methods, Humans, Interdisciplinary Communication, Osteogenesis Imperfecta/diagnosis, Osteogenesis Imperfecta/genetics, Osteogenesis Imperfecta/therapy, Patient Care/methods, Patient Education as Topic/methods, Pregnancy, Prenatal Diagnosis/methods
Pubmed
Création de la notice
28/12/2015 13:45
Dernière modification de la notice
20/08/2019 16:15
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