{"id":2132,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/?p=2132"},"modified":"2023-01-13T11:50:45","modified_gmt":"2023-01-13T11:50:45","slug":"nouvelle-publication-de-daniel-ta-sur-mds","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/nouvelle-publication-de-daniel-ta-sur-mds\/","title":{"rendered":"20 a\u00f1os de conocimiento cl\u00ednico"},"content":{"rendered":"<p><strong>Daniel Ta et ses coll\u00e9gues (Institut Telethon Kids Institute, Australie) r\u00e9sument dans leur nouvel article \u00ab La br\u00e8ve histoire du syndrome de la duplication du g\u00e8ne MECP2 : 20 ann\u00e9es de compr\u00e9hension cliniques \u00bb les \u00e9tudes cliniques sur le syndrome.<\/strong><\/p>\n\n\n\n<p>Daniel Ta <em>et al, <\/em>Breve historia del s\u00edndrome de duplicaci\u00f3n de MECP2: 20 a\u00f1os de comprensi\u00f3n cl\u00ednica, <em><em>Orphanet J Rare Dis<\/em>&nbsp;<strong>17,&nbsp;<\/strong>131 (2022)<\/em><\/p>\n\n\n\n<p><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/p>\n\n\n<p>RESUM\u00c9 DE L\u2019ARTICLE (Traduit de l&rsquo;anglais):<\/p>\n<p>Le syndrome de duplication du g\u00e8ne MECP2 est une maladie rare li\u00e9e \u00e0 l\u2019X, conduisant \u00e0 un d\u00e9sordre du neurod\u00e9veloppement caus\u00e9 par la duplication du g\u00e8ne de la prot\u00e9ine methyl-CpG-binding protein 2 (MECP2), un g\u00e8ne dont les mutations conduisant \u00e0 la perte de fonction se traduisent par le syndrome de Rett (RTT).<\/p>\n<p>La pr\u00e9valence du syndrome de duplication du g\u00e8ne MECP2 est estim\u00e9e \u00e0 1\/150,000 des naissances chez les gar\u00e7ons. Les principales caract\u00e9ristiques du MeCP2dupS sont la d\u00e9ficience intellectuelle, le retard de d\u00e9veloppement, l\u2019hypotonie, des crises d\u2019\u00e9pilepsie, des infections respiratoires \u00e0 r\u00e9p\u00e9tition, des probl\u00e8mes gastro-intestinaux, un spectre autistique et une dysmorphie faciale \u2013 bien que ces comorbidit\u00e9s ne soient pas encore comprises avec une pr\u00e9cision suffisante. Cette revue couvre les \u00e9tudes de cas des deux derni\u00e8res d\u00e9cennies depuis la d\u00e9couverte du syndrome en 1999. Apr\u00e8s un examen complet des caract\u00e9ristiques rapport\u00e9es, cette revue a identifi\u00e9 des domaines de connaissances limit\u00e9es qui, pour lesquelles nous recommandons un meilleur ph\u00e9notypage de ce syndrome par le biais d&rsquo;une collecte de donn\u00e9es internationale. Cet effort permettrait \u00e9galement de distinguer les chevauchements cliniques entre syndrome de duplication et RTT.<\/p>\n<p><a role=\"button\" href=\"\/es\/_wp_link_placeholder\/\" data-wplink-edit=\"true\">&nbsp;<\/a><\/p>\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button is-style-fill\"><a class=\"wp-block-button__link has-white-color has-text-color has-background wp-element-button\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8939085\/\" style=\"border-radius:10px;background-color:#f7a13f\" target=\"_blank\" rel=\"noreferrer noopener\">Ver la publicaci\u00f3n<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta et ses coll\u00e9gues (Institut Telethon Kids Institute, Australie) r\u00e9sument dans leur nouvel article \u00ab La br\u00e8ve histoire du syndrome de la duplication du g\u00e8ne MECP2 : 20 ann\u00e9es [&hellip;]<\/p>","protected":false},"author":2,"featured_media":4822,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[],"class_list":["post-2132","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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