{"id":7367,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/2022\/05\/05\/20-jahre-klinisches-verstaendnis\/"},"modified":"2023-01-13T11:49:43","modified_gmt":"2023-01-13T11:49:43","slug":"20-jahre-klinisches-verstaendnis","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/20-jahre-klinisches-verstaendnis\/","title":{"rendered":"20 Jahre klinisches Verst\u00e4ndnis"},"content":{"rendered":"<p><strong>Daniel Ta i wsp. (Telethon Kids Institute, Australia) w swoim nowym artykule \"Die kurze Geschichte des MeCP2-Genduplikationssyndroms: 20 Jahre klinisches Verst\u00e4ndnis\" podsumowuj\u0105 kliniczne do\u015bwiadczenia dotycz\u0105ce tego zespo\u0142u.<\/strong><\/p>\n\n\n\n<p>Daniel Ta <em>i in, <\/em>Kr\u00f3tka historia zespo\u0142u duplikacji MECP2: 20 lat zrozumienia klinicznego, <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>ZUSAMMENFASSUNG DES ARTIKELS (\u00dcbersetzt aus dem Englischen):<\/p>\n<p>Zesp\u00f3\u0142 MeCP2-Genduplikationssyndrom jest rzadk\u0105, X-chromosomaln\u0105 chorob\u0105, kt\u00f3ra prowadzi do zaburze\u0144 rozwoju uk\u0142adu nerwowego, spowodowanych duplikacj\u0105 gen\u00f3w dla bia\u0142ka wi\u0105\u017c\u0105cego metylo-CpG 2 (MECP2) - jest to gen, w kt\u00f3rym wyst\u0119puj\u0105 mutacje prowadz\u0105ce do zaburze\u0144 funkcji, takich jak zesp\u00f3\u0142 Retta (RTT).<\/p>\n<p>Cz\u0119sto\u015b\u0107 wyst\u0119powania zespo\u0142\u00f3w MeCP2-Genduplikacji u dzieci wynosi 1\/150 000 urodze\u0144. Hauptmerkmale von MeCP2-Genduplikationssyndroms sind geistige Behinderung, Entwicklungsverz\u00f6gerung, Hypotonie, epileptische Anf\u00e4lle, wiederholte Atemwegsinfektionen, Magen-Darm-Probleme, ein autistisches Spektrum und Gesichtsdysmorphie - obwohl diese Komorbidit\u00e4ten noch nicht genau verstanden werden. Niniejszy raport obejmuje badania z ostatnich dw\u00f3ch lat od momentu wyst\u0105pienia zespo\u0142u w 1999 roku. Po dok\u0142adnym przeanalizowaniu przedstawionych informacji, w niniejszym opracowaniu zidentyfikowano obszary o du\u017cej wiedzy, dla kt\u00f3rych zalecamy lepsz\u0105 charakterystyk\u0119 tego zespo\u0142u poprzez mi\u0119dzynarodowy zbi\u00f3r danych. Te badania pozwoli\u0142yby r\u00f3wnie\u017c na rozr\u00f3\u017cnienie klinicznych r\u00f3\u017cnic mi\u0119dzy zespo\u0142ami MeCP2-Genduplikations a 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\">Publikation ansehen<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta et al. (Telethon Kids Institute, Australien) fassen in ihrem neuen Artikel \u00ab\u00a0Die kurze Geschichte des MeCP2-Genduplikationssyndroms: 20 Jahre klinisches Verst\u00e4ndnis\u00a0\u00bb die klinischen Erkenntnisse \u00fcber das Syndrom zusammen. Daniel [&hellip;]<\/p>","protected":false},"author":2,"featured_media":6887,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[58],"tags":[],"class_list":["post-7367","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publikationen"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>20 Jahre klinisches Verst\u00e4ndnis - 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\/pl\/20-jahre-klinisches-verstaendnis\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"20 Jahre klinisches Verst\u00e4ndnis - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Daniel Ta et al. 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