{"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-jahre-klinisches-verstandnis-2","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/de\/20-jahre-klinisches-verstandnis-2\/","title":{"rendered":"20 a\u00f1os de comprensi\u00f3n cl\u00ednica (20 Jahre klinisches Verst\u00e4ndnis)"},"content":{"rendered":"<p class=\"wp-block-paragraph\"><strong>Daniel Ta und Kollegen (Telethon Kids Institute, Australien) fassen in ihrem neuen Artikel \u201eThe Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u201c die klinischen Erkenntnisse zu diesem Syndrom zusammen.<\/strong><\/p>\n\n<p class=\"wp-block-paragraph\">Daniel Ta <em>et al, <\/em>A brief history of MECP2 duplication syndrome: 20 years of clinical understanding, <em><em>Orphanet J Rare Dis<\/em> <strong>17, <\/strong>131 (2022)<\/em><\/p>\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p class=\"wp-block-paragraph\"><\/p>\n<p>RESUMEN DE LA PUBLICACI\u00d3N<\/p>\n<p>Das MECP2-Duplikationssyndrom (MDS) ist eine seltene, X-chromosomale neurologische Entwicklungsst\u00f6rung, die durch eine Duplikation des Gens f\u00fcr das Methyl-CpG-bindende Protein 2 (MECP2) verursacht wird, einem Gen, bei dem Mutationen mit Funktionsverlust zum Rett-Syndrom (RTT) f\u00fchren.<\/p>\n<p>Die gesch\u00e4tzte Pr\u00e4valenz von MDS bei lebend geborenen Jungen liegt bei 1 zu 150.000. Zu den Hauptmerkmalen des MDS geh\u00f6ren geistige Behinderung, Entwicklungsverz\u00f6gerung, Hypotonie, Krampfanf\u00e4lle, wiederkehrende Atemwegsinfektionen, Magen-Darm-Probleme, autistische Verhaltensmerkmale und dysmorphe Merkmale; allerdings sind diese Begleiterkrankungen noch nicht ausreichend detailliert bekannt. Diese \u00dcbersichtsarbeit umfasst die Fallstudien und Fallserien zu MDS der letzten zwei Jahrzehnte seit der Entdeckung der Erkrankung im Jahr 1999. Nach einer umfassenden \u00dcberpr\u00fcfung der beschriebenen Merkmale hat diese \u00dcbersicht Bereiche mit begrenzten Erkenntnissen identifiziert, die unserer Empfehlung nach durch eine verbesserte Ph\u00e4notypisierung dieser St\u00f6rung mittels einer internationalen Datenerhebung angegangen werden sollten. Diese Bem\u00fchungen w\u00fcrden auch dazu dienen, die klinischen \u00dcberschneidungen zwischen MDS und RTT abzugrenzen.<\/p>\n<p><a role=\"button\" href=\"\/de\/_wp_link_placeholder\/\" data-wplink-edit=\"true\">&nbsp;<\/a><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p class=\"wp-block-paragraph\"><\/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 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>20 a\u00f1os de comprensi\u00f3n cl\u00ednica - DupMECP2<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dupmecp2.eu\/de\/20-jahre-klinisches-verstandnis-2\/?lang=es\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"20 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