{"id":9091,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/"},"modified":"2023-01-18T09:41:48","modified_gmt":"2023-01-18T09:41:48","slug":"20-anos-de-conocimiento-clinico","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/20-anos-de-conocimiento-clinico\/","title":{"rendered":"20 a\u00f1os de conocimiento cl\u00ednico"},"content":{"rendered":"<p><strong>Daniel Ta et al (Telethon Kids Institute, Australia) resumen en su nuevo art\u00edculo \"The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\" los hallazgos cl\u00ednicos sobre el s\u00edndrome.<\/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> <strong>17, <\/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><strong>RESUMEN DE LA PUBLICACI\u00d3N:<\/strong><\/p>\n<p>El s\u00edndrome de duplicaci\u00f3n MECP2 (MDS) es un trastorno del neurodesarrollo raro, ligado al cromosoma X, causado por una duplicaci\u00f3n del gen de la prote\u00edna de uni\u00f3n metil-CpG 2 (MECP2), un gen en el que las mutaciones de p\u00e9rdida de funci\u00f3n conducen al s\u00edndrome de Rett (RTT).<\/p>\n<p>El SMD tiene una prevalencia estimada de nacidos vivos en varones de 1\/150.000. Las caracter\u00edsticas clave del SMD incluyen discapacidad intelectual, retraso del desarrollo, hipoton\u00eda, convulsiones, infecciones respiratorias recurrentes, problemas gastrointestinales, rasgos conductuales de autismo y rasgos dism\u00f3rficos, aunque estas comorbilidades a\u00fan no se conocen con suficiente detalle. Esta revisi\u00f3n abarca las dos \u00faltimas d\u00e9cadas de estudios de casos y series de SMD desde el descubrimiento del trastorno en 1999. Tras una revisi\u00f3n exhaustiva de las caracter\u00edsticas descritas, esta revisi\u00f3n ha identificado \u00e1reas de conocimiento limitado que recomendamos que se aborden mediante una mejor fenotipificaci\u00f3n de este trastorno a trav\u00e9s de una recopilaci\u00f3n internacional de datos. Este esfuerzo tambi\u00e9n servir\u00eda para delinear el solapamiento cl\u00ednico entre los SMD y el RTT.<\/p>\n<p>\u00a0<\/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\">A la publicaci\u00f3n<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta et al (Telethon Kids Institute, Australia) summarize in their new article \u00ab\u00a0The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00a0\u00bb the clinical findings on [&hellip;]<\/p>","protected":false},"author":2,"featured_media":4823,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[88],"tags":[],"class_list":["post-9091","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications-en"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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