{"id":9091,"date":"2022-05-05T19:41:00","date_gmt":"2022-05-05T19:41:00","guid":{"rendered":"https:\/\/dupmecp2.eu\/20-years-of-clinical-understanding\/"},"modified":"2023-01-18T09:41:48","modified_gmt":"2023-01-18T09:41:48","slug":"20-lat-wiedzy-klinicznej","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/20-lat-wiedzy-klinicznej\/","title":{"rendered":"20 lat wiedzy klinicznej"},"content":{"rendered":"<p class=\"wp-block-paragraph\"><strong>Daniel Ta i wsp. (Telethon Kids Institute, Australia) podsumowuj\u0105 w swoim nowym artykule \"The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\" wyniki bada\u0144 klinicznych dotycz\u0105cych tego zespo\u0142u.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">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 class=\"wp-block-paragraph\"><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n<p><strong>STRESZCZENIE PUBLIKACJI:<\/strong><\/p>\n<p>Zesp\u00f3\u0142 duplikacji MECP2 (MDS) jest rzadkim, sprz\u0119\u017conym z chromosomem X zaburzeniem neurorozwojowym spowodowanym duplikacj\u0105 genu bia\u0142ka wi\u0105\u017c\u0105cego metylo-CpG 2 (MECP2) - genu, w kt\u00f3rym mutacje utraty funkcji prowadz\u0105 do zespo\u0142u Retta (RTT).<\/p>\n<p>Szacuje si\u0119, \u017ce cz\u0119sto\u015b\u0107 wyst\u0119powania MDS u m\u0119\u017cczyzn wynosi 1\/150 000. Kluczowe cechy MDS obejmuj\u0105 niepe\u0142nosprawno\u015b\u0107 intelektualn\u0105, op\u00f3\u017anienie rozwoju, hipotoni\u0119, drgawki, nawracaj\u0105ce infekcje dr\u00f3g oddechowych, problemy \u017co\u0142\u0105dkowo-jelitowe, cechy behawioralne autyzmu i cechy dysmorficzne - cho\u0107 te choroby wsp\u00f3\u0142istniej\u0105ce nie s\u0105 jeszcze wystarczaj\u0105co dobrze poznane. Niniejszy przegl\u0105d obejmuje ostatnie dwie dekady studi\u00f3w przypadk\u00f3w i serii MDS od czasu odkrycia tego zaburzenia w 1999 roku. Po kompleksowym przegl\u0105dzie zg\u0142oszonych cech, przegl\u0105d ten zidentyfikowa\u0142 obszary ograniczonej wiedzy, kt\u00f3re zalecamy, aby mo\u017cna by\u0142o rozwi\u0105za\u0107 poprzez lepsze fenotypowanie tego zaburzenia poprzez mi\u0119dzynarodowe gromadzenie danych. Przedsi\u0119wzi\u0119cie to pos\u0142u\u017cy\u0142oby r\u00f3wnie\u017c do okre\u015blenia klinicznego nak\u0142adania si\u0119 MDS i RTT.<\/p>\n<p>\u00a0<\/p>\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p class=\"wp-block-paragraph\"><\/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\">Do publikacji<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Daniel Ta et al (Telethon Kids Institute, Australia) summarize in their new article \u00ab\u00a0The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding\u00a0\u00bb the clinical findings on [&hellip;]<\/p>","protected":false},"author":2,"featured_media":4823,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[88],"tags":[],"class_list":["post-9091","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications-en"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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