Scoping review on the role of the family doctor in the prevention and care of patients with foetal alcohol spectrum disorder

Autor: Sébastien Leruste, Bérénice Doray, Thierry Maillard, Christophe Lebon, Catherine Marimoutou, Michel Spodenkiewicz

Publikováno v: BMC Primary Care, Vol 25, Iss 1, Pp 1-16 (2024)

Abstract Background Foetal alcohol spectrum disorder (FASD) is the leading preventable cause of nongenetic mental disability. Given the patient care pathway, the General Practitioner (GP) is in the front line of prevention and identification of FASD.

Externí odkaz: https://doaj.org/article/03e9486254c94ea28696075a87a6ae50

Obstacles and facilitators to preventing fetal alcohol spectrum disorder: a qualitative study with general practitioners

Autor: Sébastien Leruste, François Baelen, Bérénice Doray, Thierry Maillard, Catherine Marimoutou, Michel Spodenkiewicz

Publikováno v: Frontiers in Medicine, Vol 11 (2024)

BackgroundFetal Alcohol Spectrum Disorders are the leading cause of non-genetic intellectual disability. The damage caused, although completely preventable, is irreversible and requires lifelong support. General Practitioners have an important role i

Externí odkaz: https://doaj.org/article/e67515b12bac4a1093fca216a68f65d7

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

Autor: Agnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, O-Rare consortium, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Béatrice Thivichon-Prince, ERN Cranio Consortium, Tatjana Dostalova, Milan Macek, International Consortium, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter, Yves Alembik, Victorin Ahossi, Isabelle Bailleul-Forestier, Isabelle Blanchet, Ariane Berdal, Marie José Boileau, Nicolas Chassaing, François Clauss, Caroline Delfosse, Anne De-Saint-Martin, Jean-Christophe Dahlet, Bérénice Doray, Jean-Luc Davideau, Tiphaine Davit-Béal, Hélène Dollfus, Jean-Pierre Duprez, Muriel de La Dure Molla, Klauss Dieterich, Dominique Droz, Salima El Chehadeh, Olivier Etienne, Edouard Euvrard, Laurence Faivre, Benjamin Fournier, Elsa Garot, Bruno Grollemund, Nathalie Guffon-Fouilhoux, Mathilde Huckert, Bertand Isidor, Sophie Jung, Didier Lacombe, Alinoe Lavillaurex, Marine Lebrun, Bruno Leheup, Adeline Loing, Sandrine Marlin, Jean-Jacques Morrier, Michèle Muller-Bolla, Sylvie Odent, Marie Paule Gelle, Juliette Piard, Linda Pons, Béatrice Richard, Massimiliano Rossi, Prune Sadones, Elise Schaefer, Jean-Louis Sixou, Sylvie Soskin, Marion Strub, Annick Toutain, Alain Verloes, Frédéric Vaysse, Delphine Wagner

Publikováno v: Frontiers in Physiology, Vol 14 (2023)

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel phenotypes can be described as hypoplastic, hypomineralized or hypomature a

Externí odkaz: https://doaj.org/article/be19745ebc994351a79834498f898534

Tastes and colours: a qualitative study of the lived experience of methylphenidate prescribed for children with a fetal alcohol spectrum disorder

Autor: Clémentine Morin, Bérénice Doray, Cécilia Dumar, Jude Balit, Nicolas Bouscaren, Michel Spodenkiewicz

Fetal Alcohol Spectrum Disorders (FASD) refer to physical, cognitive, and behavioural symptoms in an individual whose mother consumed alcohol during pregnancy. It is the leading cause of non-genetic avoidable mental disability, with an estimated worl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1f2914c07e08b62afc19cc42e23a9293
https://doi.org/10.21203/rs.3.rs-2724595/v1

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients

Autor: Juliette Coursimault, Kévin Cassinari, François Lecoquierre, Olivier Quenez, Sophie Coutant, Céline Derambure, Myriam Vezain, Nathalie Drouot, Gabriella Vera, Elise Schaefer, Anaïs Philippe, Bérénice Doray, Laëtitia Lambert, Jamal Ghoumid, Thomas Smol, Mélanie Rama, Marine Legendre, Didier Lacombe, Patricia Fergelot, Robert Olaso, Anne Boland, Jean‐François Deleuze, Alice Goldenberg, Pascale Saugier‐Veber, Gaël Nicolas

Publikováno v: Human mutationREFERENCES. 43(12)

Cornelia de Lange syndrome (CdLS; MIM# 122470) is a rare developmental disorder. Pathogenic variants in 5 genes explain approximately 50% cases, leaving the other 50% unsolved. We performed whole genome sequencing (WGS) ± RNA sequencing (RNA-seq) in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6f0d047ab046870fdf83cf3b6025ebe
https://pubmed.ncbi.nlm.nih.gov/35842780