{"id":15967,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"https:\/\/dupmecp2.eu\/una-breve-storia-della-sindrome-da-duplicazione-di-mecp2-20-anni-di-comprensione-clinica\/"},"modified":"2023-04-17T15:43:24","modified_gmt":"2023-04-17T15:43:24","slug":"krotka-historia-zespolu-duplikacji-mecp2-20-lat-doswiadczenia-klinicznego","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/krotka-historia-zespolu-duplikacji-mecp2-20-lat-doswiadczenia-klinicznego\/","title":{"rendered":"Una breve storia della Sindrome da Duplicazione di MECP2: 20 anni di comprensione clinica"},"content":{"rendered":"<p><strong>Daniel Ta i jego wsp\u00f3\u0142pracownicy (Instituto Telethon per bambini, Australia) zilustrowali w swoim artykule \"The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\" le scoperte in campo clinico legate alla sindrome.<\/strong><\/p>\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<p><\/p>\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n<p><\/p>\n<p>RIASSUNTO DELL'ARTICOLO:<\/p>\n<p>Zesp\u00f3\u0142 duplikacji MECP2 (MDS) jest rzadk\u0105 chorob\u0105 spowodowan\u0105 duplikacj\u0105 genu MECP2 (obecnego na chromosomie X), kt\u00f3ry koduje bia\u0142ko wi\u0105\u017c\u0105ce metylo-CpG (MeCP2). Gdy ten sam gen traci swoj\u0105 funkcj\u0119 z powodu mutacji, jest to znane jako zesp\u00f3\u0142 Retta (RTT).<\/p>\n<p>Cz\u0119sto\u015b\u0107 wyst\u0119powania MDS wynosi jeden przypadek na 150 000 urodze\u0144. Aspetti chiave della MDS obejmuj\u0105 niepe\u0142nosprawno\u015b\u0107 intelektualn\u0105, ritardo nello sviluppo, ipotonia, drgawki, cz\u0119ste infezioni respiratorie, tratti comportamentali autistici e dismorfia, sebbene queste comorbidita' non siano ancora pienamente comprese. W niniejszym artykule om\u00f3wiono dziesi\u0119\u0107 lat studiowania przypadk\u00f3w MDS, pocz\u0105wszy od ich wykrycia w 1999 roku. Po dokonaniu przegl\u0105du zg\u0142oszonych cech, zidentyfikowano obszary, w kt\u00f3rych wiedza na temat choroby jest nadal niewielka, i zalecono lepsze zrozumienie choroby poprzez mi\u0119dzynarodowe gromadzenie danych. S\u0142u\u017cy\u0142oby to r\u00f3wnie\u017c wyja\u015bnieniu obszaru klinicznego skrzy\u017cowania MDS i RTT.<\/p>\n<p><a role=\"button\" href=\"\/pl\/_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\">Alla pubblicazione<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta e i suoi collaboratori (Instituto Telethon per bambini, Australia) illustrano nel loro articolo \u00ab\u00a0The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00a0\u00bb le scoperte [&hellip;]<\/p>","protected":false},"author":2,"featured_media":13091,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[139],"tags":[],"class_list":["post-15967","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-pubblicazioni"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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