{"id":15099,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"https:\/\/dupmecp2.eu\/20-anos-de-comprension-clinica\/"},"modified":"2023-02-20T19:32:02","modified_gmt":"2023-02-20T19:32:02","slug":"20-%cf%87%cf%81%cf%8c%ce%bd%ce%b9%ce%b1-%ce%ba%ce%bb%ce%b9%ce%bd%ce%b9%ce%ba%ce%ae%cf%82-%ce%b5%ce%bc%cf%80%ce%b5%ce%b9%cf%81%ce%af%ce%b1%cf%82","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/el\/20-%cf%87%cf%81%cf%8c%ce%bd%ce%b9%ce%b1-%ce%ba%ce%bb%ce%b9%ce%bd%ce%b9%ce%ba%ce%ae%cf%82-%ce%b5%ce%bc%cf%80%ce%b5%ce%b9%cf%81%ce%af%ce%b1%cf%82\/","title":{"rendered":"20 \u03c7\u03c1\u03cc\u03bd\u03b9\u03b1 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae\u03c2 \u03ba\u03b1\u03c4\u03b1\u03bd\u03cc\u03b7\u03c3\u03b7\u03c2"},"content":{"rendered":"<p><strong>Daniel Ta y colaboradores (Telethon Kids Institute, \u0391\u03c5\u03c3\u03c4\u03c1\u03b1\u03bb\u03af\u03b1) 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<p>Daniel Ta <em>et al, <\/em>\u03a3\u03cd\u03bd\u03c4\u03bf\u03bc\u03b7 \u03b9\u03c3\u03c4\u03bf\u03c1\u03af\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 \u03b4\u03b9\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03bf\u03cd \u03c4\u03bf\u03c5 MECP2: 20 \u03c7\u03c1\u03cc\u03bd\u03b9\u03b1 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae\u03c2 \u03ba\u03b1\u03c4\u03b1\u03bd\u03cc\u03b7\u03c3\u03b7\u03c2, <em><em>Orphanet J Rare Dis<\/em> <strong>17, <\/strong>131 (2022)<\/em><\/p>\n\n<p><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p><\/p>\n<p>\u03a0\u0395\u03a1\u038a\u039b\u0397\u03a8\u0397 \u03a4\u0397\u03a3 \u0394\u0397\u039c\u039f\u03a3\u038a\u0395\u03a5\u03a3\u0397\u03a3<\/p>\n<p>El s\u00edndrome de duplicaci\u00f3n de MECP2 (MDS) es un raro trastorno del neurodesarrollo 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>\u03a4\u03bf \u039c\u0394\u03a3 \u03ad\u03c7\u03b5\u03b9 \u03b5\u03ba\u03c4\u03b9\u03bc\u03ce\u03bc\u03b5\u03bd\u03b7 \u03c3\u03c5\u03c7\u03bd\u03cc\u03c4\u03b7\u03c4\u03b1 1\/150.000 \u03c3\u03c4\u03bf\u03c5\u03c2 \u03b6\u03c9\u03bd\u03c4\u03b1\u03bd\u03bf\u03cd\u03c2 \u03ac\u03c1\u03c1\u03b5\u03bd\u03b5\u03c2. Las caracter\u00edsticas clave del MDS 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 con con conocen suficiente detalle. Esta revisi\u00f3n abarca las dos \u00faltimas d\u00e9cadas de estudios de casos y series de MDS desde el descubrimiento del trastorno en 1999. \u039c\u03b5\u03c4\u03ac \u03b1\u03c0\u03cc \u03bc\u03b9\u03b1 \u03b5\u03be\u03b1\u03bd\u03c4\u03bb\u03b7\u03c4\u03b9\u03ba\u03ae \u03b1\u03bd\u03b1\u03c3\u03ba\u03cc\u03c0\u03b7\u03c3\u03b7 \u03c4\u03c9\u03bd \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ce\u03bd \u03c0\u03bf\u03c5 \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03ac\u03c6\u03bf\u03bd\u03c4\u03b1\u03b9, \u03b7 \u03c0\u03b1\u03c1\u03bf\u03cd\u03c3\u03b1 \u03b1\u03bd\u03b1\u03c3\u03ba\u03cc\u03c0\u03b7\u03c3\u03b7 \u03b5\u03bd\u03c4\u03cc\u03c0\u03b9\u03c3\u03b5 \u03c4\u03bf\u03bc\u03b5\u03af\u03c2 \u03c0\u03b5\u03c1\u03b9\u03bf\u03c1\u03b9\u03c3\u03bc\u03ad\u03bd\u03b7\u03c2 \u03b3\u03bd\u03ce\u03c3\u03b7\u03c2 \u03c0\u03bf\u03c5 \u03c0\u03c1\u03bf\u03c4\u03b5\u03af\u03bd\u03bf\u03c5\u03bc\u03b5 \u03bd\u03b1 \u03b1\u03bd\u03c4\u03b9\u03bc\u03b5\u03c4\u03c9\u03c0\u03b9\u03c3\u03c4\u03bf\u03cd\u03bd \u03bc\u03ad\u03c3\u03c9 \u03c4\u03b7\u03c2 \u03ba\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b7\u03c2 \u03c0\u03bf\u03c3\u03bf\u03c4\u03b9\u03ba\u03bf\u03c0\u03bf\u03af\u03b7\u03c3\u03b7\u03c2 \u03b1\u03c5\u03c4\u03ae\u03c2 \u03c4\u03b7\u03c2 \u03b4\u03b9\u03b1\u03c4\u03b1\u03c1\u03b1\u03c7\u03ae\u03c2 \u03bc\u03ad\u03c3\u03c9 \u03c4\u03b7\u03c2 \u03c3\u03c5\u03b3\u03ba\u03ad\u03bd\u03c4\u03c1\u03c9\u03c3\u03b7\u03c2 \u03b4\u03b9\u03b5\u03b8\u03bd\u03ce\u03bd \u03b4\u03b5\u03b4\u03bf\u03bc\u03ad\u03bd\u03c9\u03bd. Este esfuerzo tambi\u00e9n servir\u00eda para delinear el solapamiento cl\u00ednico entre los MDS y el RTT.<\/p>\n<p><a role=\"button\" href=\"\/el\/_wp_link_placeholder\/\" data-wplink-edit=\"true\">&nbsp;<\/a><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p><\/p>\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 y colaboradores (Telethon Kids Institute, Australia) resumen en su nuevo art\u00edculo \u00ab\u00a0The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00a0\u00bb los hallazgos cl\u00ednicos sobre [&hellip;]<\/p>","protected":false},"author":2,"featured_media":13092,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[113],"tags":[],"class_list":["post-15099","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publicacion"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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