{"id":2132,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/?p=2132"},"modified":"2023-01-13T11:50:45","modified_gmt":"2023-01-13T11:50:45","slug":"nowa-publikacja-daniela-ta-na-temat-mds","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/nowa-publikacja-daniela-ta-na-temat-mds\/","title":{"rendered":"20 lat wiedzy klinicznej"},"content":{"rendered":"<p><strong>Daniel Ta i jego wsp\u00f3\u0142pracownicy (Telethon Kids Institute, Australia) podsumowuj\u0105 badania kliniczne zespo\u0142u duplikacji genu MECP2 w swoim nowym artykule \"A brief history of the MECP2 gene duplication syndrome: 20 years of clinical understanding\".<\/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>&nbsp;<strong>17,&nbsp;<\/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>STRESZCZENIE ARTYKU\u0141U (przet\u0142umaczone z j\u0119zyka angielskiego):<\/p>\n<p>Zesp\u00f3\u0142 duplikacji genu MECP2 jest rzadkim zaburzeniem sprz\u0119\u017conym z chromosomem X prowadz\u0105cym do zaburze\u0144 neurorozwojowych spowodowanych duplikacj\u0105 genu bia\u0142ka wi\u0105\u017c\u0105cego metylo-CpG 2 (MECP2), genu, kt\u00f3rego mutacje prowadz\u0105ce do utraty funkcji powoduj\u0105 zesp\u00f3\u0142 Retta (RTT).<\/p>\n<p>Cz\u0119sto\u015b\u0107 wyst\u0119powania zespo\u0142u duplikacji genu MECP2 szacuje si\u0119 na 1\/150 000 urodze\u0144 ch\u0142opc\u00f3w. G\u0142\u00f3wnymi cechami zespo\u0142u MeCP2dupS s\u0105 niepe\u0142nosprawno\u015b\u0107 intelektualna, op\u00f3\u017anienie rozwoju, hipotonia, drgawki, nawracaj\u0105ce infekcje dr\u00f3g oddechowych, problemy \u017co\u0142\u0105dkowo-jelitowe, zaburzenia ze spektrum autyzmu i dysmorfia twarzy - chocia\u017c te choroby wsp\u00f3\u0142istniej\u0105ce nie s\u0105 jeszcze wystarczaj\u0105co dok\u0142adnie poznane. Niniejszy przegl\u0105d obejmuje studia przypadk\u00f3w z ostatnich dw\u00f3ch dekad od czasu odkrycia zespo\u0142u w 1999 roku. Po kompleksowym przegl\u0105dzie zg\u0142oszonych cech, niniejszy przegl\u0105d zidentyfikowa\u0142 obszary o ograniczonej wiedzy, dla kt\u00f3rych zalecamy lepsze fenotypowanie tego zespo\u0142u poprzez mi\u0119dzynarodowe gromadzenie danych. Wysi\u0142ek ten pom\u00f3g\u0142by r\u00f3wnie\u017c rozr\u00f3\u017cni\u0107 kliniczne nak\u0142adanie si\u0119 zespo\u0142u duplikacji i RTT.<\/p>\n<p><a role=\"button\" href=\"\/pl\/_wp_link_placeholder\/\" data-wplink-edit=\"true\">&nbsp;<\/a><\/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\">Zobacz publikacj\u0119<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta et ses coll\u00e9gues (Institut Telethon Kids Institute, Australie) r\u00e9sument dans leur nouvel article \u00ab La br\u00e8ve histoire du syndrome de la duplication du g\u00e8ne MECP2 : 20 ann\u00e9es [&hellip;]<\/p>","protected":false},"author":2,"featured_media":4822,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[],"class_list":["post-2132","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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