{"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-anos-de-experiencia-clinica","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/20-anos-de-experiencia-clinica\/","title":{"rendered":"20 a\u00f1os de experiencia cl\u00ednica"},"content":{"rendered":"<p><strong>Daniel Ta et al (Telethon Kids Institute, Australia), en su nuevo art\u00edculo \"Die kurze Geschichte des MeCP2-Genduplikationssyndroms: 20 Jahre klinisches Verst\u00e4ndnis\" (La breve historia de los s\u00edndromes de diluci\u00f3n del gen MeCP2: 20 a\u00f1os de experiencia cl\u00ednica), exponen los conocimientos cl\u00ednicos sobre el s\u00edndrome.<\/strong><\/p>\n\n\n\n<p>Daniel Ta <em>et al, <\/em>Breve historia del s\u00edndrome de duplicaci\u00f3n de MECP2: 20 a\u00f1os de comprensi\u00f3n cl\u00ednica, <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>El s\u00edndrome de las mutaciones de MeCP2 es una alteraci\u00f3n cromos\u00f3mica rara del cromosoma X que conduce a un trastorno del desarrollo neurol\u00f3gico causado por la duplicaci\u00f3n del gen de la prote\u00edna de uni\u00f3n a metil-CpG 2 (MECP2), un gen cuyas mutaciones, que conducen a un trastorno del funcionamiento, causan el s\u00edndrome de Rett (RTT).<\/p>\n<p>La prevalencia de los s\u00edndromes de dilataci\u00f3n del gen MeCP2 es de 1\/150.000 en ni\u00f1os. Los s\u00edntomas principales de los s\u00edndromes de la variabilidad del gen MeCP2 son el trastorno mental, el trastorno del desarrollo, la hipoton\u00eda, la epilepsia, la infecci\u00f3n de las v\u00edas respiratorias, los problemas magnetizantes, el espectro autista y la dismorfia del comportamiento, aunque estos trastornos no se conocen con exactitud. Este informe se basa en estudios de casos realizados en los dos \u00faltimos a\u00f1os desde la aparici\u00f3n del s\u00edndrome en 1999. Tras un examen exhaustivo de los datos recogidos, se han identificado en este informe \u00e1mbitos con un conocimiento profundo, para los que recomendamos una mejor tipificaci\u00f3n del s\u00edndrome mediante una base de datos internacional. Estas observaciones tambi\u00e9n permitir\u00e1n diferenciar las diferencias cl\u00ednicas entre los s\u00edndromes MeCP2-Genduplikationssyndroms y el 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\">B\u00fasqueda de publicaciones<\/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\/es\/20-anos-de-experiencia-clinica\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\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. (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;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/dupmecp2.eu\/es\/20-anos-de-experiencia-clinica\/?lang=de\" \/>\n<meta property=\"og:site_name\" content=\"DupMECP2\" \/>\n<meta property=\"article:published_time\" content=\"2022-05-05T19:41:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-01-13T11:49:43+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"900\" \/>\n\t<meta property=\"og:image:height\" content=\"600\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"caroline\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Escrito por\" \/>\n\t<meta name=\"twitter:data1\" content=\"caroline\" \/>\n\t<meta name=\"twitter:label2\" content=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minuto\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de#article\",\"isPartOf\":{\"@id\":\"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de\"},\"author\":{\"name\":\"caroline\",\"@id\":\"https:\/\/dupmecp2.eu\/#\/schema\/person\/a2d598af65fca1b106d199ec5b9f8835\"},\"headline\":\"20 Jahre klinisches Verst\u00e4ndnis\",\"datePublished\":\"2022-05-05T19:41:00+00:00\",\"dateModified\":\"2023-01-13T11:49:43+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de\"},\"wordCount\":220,\"publisher\":{\"@id\":\"https:\/\/dupmecp2.eu\/#organization\"},\"image\":{\"@id\":\"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de#primaryimage\"},\"thumbnailUrl\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg\",\"articleSection\":[\"Publikationen\"],\"inLanguage\":\"es\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de\",\"url\":\"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de\",\"name\":\"20 Jahre klinisches Verst\u00e4ndnis - DupMECP2\",\"isPartOf\":{\"@id\":\"https:\/\/dupmecp2.eu\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de#primaryimage\"},\"image\":{\"@id\":\"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de#primaryimage\"},\"thumbnailUrl\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg\",\"datePublished\":\"2022-05-05T19:41:00+00:00\",\"dateModified\":\"2023-01-13T11:49:43+00:00\",\"breadcrumb\":{\"@id\":\"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de#breadcrumb\"},\"inLanguage\":\"es\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"es\",\"@id\":\"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de#primaryimage\",\"url\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg\",\"contentUrl\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg\",\"width\":900,\"height\":600},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Accueil\",\"item\":\"https:\/\/dupmecp2.eu\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Publikationen\",\"item\":\"https:\/\/dupmecp2.eu\/category\/publikationen\/?lang=de\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"20 Jahre klinisches Verst\u00e4ndnis\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/dupmecp2.eu\/#website\",\"url\":\"https:\/\/dupmecp2.eu\/\",\"name\":\"DupMECP2\",\"description\":\"EU\",\"publisher\":{\"@id\":\"https:\/\/dupmecp2.eu\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\/\/dupmecp2.eu\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"es\"},{\"@type\":\"Organization\",\"@id\":\"https:\/\/dupmecp2.eu\/#organization\",\"name\":\"DupMECP2\",\"url\":\"https:\/\/dupmecp2.eu\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"es\",\"@id\":\"https:\/\/dupmecp2.eu\/#\/schema\/logo\/image\/\",\"url\":\"\",\"contentUrl\":\"\",\"caption\":\"DupMECP2\"},\"image\":{\"@id\":\"https:\/\/dupmecp2.eu\/#\/schema\/logo\/image\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\/\/dupmecp2.eu\/#\/schema\/person\/a2d598af65fca1b106d199ec5b9f8835\",\"name\":\"caroline\",\"url\":\"https:\/\/dupmecp2.eu\/es\/author\/d20cf5dae17f1d6e\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"20 a\u00f1os de experiencia cl\u00ednica - DupMECP2","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/dupmecp2.eu\/es\/20-anos-de-experiencia-clinica\/?lang=de","og_locale":"es_ES","og_type":"article","og_title":"20 Jahre klinisches Verst\u00e4ndnis - DupMECP2","og_description":"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;]","og_url":"https:\/\/dupmecp2.eu\/es\/20-anos-de-experiencia-clinica\/?lang=de","og_site_name":"DupMECP2","article_published_time":"2022-05-05T19:41:00+00:00","article_modified_time":"2023-01-13T11:49:43+00:00","og_image":[{"width":900,"height":600,"url":"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg","type":"image\/jpeg"}],"author":"caroline","twitter_card":"summary_large_image","twitter_misc":{"Escrito por":"caroline","Tiempo de lectura":"1 minuto"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de#article","isPartOf":{"@id":"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de"},"author":{"name":"caroline","@id":"https:\/\/dupmecp2.eu\/#\/schema\/person\/a2d598af65fca1b106d199ec5b9f8835"},"headline":"20 Jahre klinisches Verst\u00e4ndnis","datePublished":"2022-05-05T19:41:00+00:00","dateModified":"2023-01-13T11:49:43+00:00","mainEntityOfPage":{"@id":"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de"},"wordCount":220,"publisher":{"@id":"https:\/\/dupmecp2.eu\/#organization"},"image":{"@id":"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de#primaryimage"},"thumbnailUrl":"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg","articleSection":["Publikationen"],"inLanguage":"es"},{"@type":"WebPage","@id":"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de","url":"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de","name":"20 a\u00f1os de experiencia cl\u00ednica - DupMECP2","isPartOf":{"@id":"https:\/\/dupmecp2.eu\/#website"},"primaryImageOfPage":{"@id":"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de#primaryimage"},"image":{"@id":"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de#primaryimage"},"thumbnailUrl":"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg","datePublished":"2022-05-05T19:41:00+00:00","dateModified":"2023-01-13T11:49:43+00:00","breadcrumb":{"@id":"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de#breadcrumb"},"inLanguage":"es","potentialAction":[{"@type":"ReadAction","target":["https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de"]}]},{"@type":"ImageObject","inLanguage":"es","@id":"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de#primaryimage","url":"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg","contentUrl":"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/05\/Ta.-2022.jpg","width":900,"height":600},{"@type":"BreadcrumbList","@id":"https:\/\/dupmecp2.eu\/20-jahre-klinisches-verstaendnis\/?lang=de#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Accueil","item":"https:\/\/dupmecp2.eu\/"},{"@type":"ListItem","position":2,"name":"Publikationen","item":"https:\/\/dupmecp2.eu\/category\/publikationen\/?lang=de"},{"@type":"ListItem","position":3,"name":"20 Jahre klinisches Verst\u00e4ndnis"}]},{"@type":"WebSite","@id":"https:\/\/dupmecp2.eu\/#website","url":"https:\/\/dupmecp2.eu\/","name":"DupMECP2","description":"UE","publisher":{"@id":"https:\/\/dupmecp2.eu\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/dupmecp2.eu\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"es"},{"@type":"Organization","@id":"https:\/\/dupmecp2.eu\/#organization","name":"DupMECP2","url":"https:\/\/dupmecp2.eu\/","logo":{"@type":"ImageObject","inLanguage":"es","@id":"https:\/\/dupmecp2.eu\/#\/schema\/logo\/image\/","url":"","contentUrl":"","caption":"DupMECP2"},"image":{"@id":"https:\/\/dupmecp2.eu\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/dupmecp2.eu\/#\/schema\/person\/a2d598af65fca1b106d199ec5b9f8835","name":"caroline","url":"https:\/\/dupmecp2.eu\/es\/author\/d20cf5dae17f1d6e\/"}]}},"_links":{"self":[{"href":"https:\/\/dupmecp2.eu\/es\/wp-json\/wp\/v2\/posts\/7367","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dupmecp2.eu\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dupmecp2.eu\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dupmecp2.eu\/es\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/dupmecp2.eu\/es\/wp-json\/wp\/v2\/comments?post=7367"}],"version-history":[{"count":0,"href":"https:\/\/dupmecp2.eu\/es\/wp-json\/wp\/v2\/posts\/7367\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dupmecp2.eu\/es\/wp-json\/wp\/v2\/media\/6887"}],"wp:attachment":[{"href":"https:\/\/dupmecp2.eu\/es\/wp-json\/wp\/v2\/media?parent=7367"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dupmecp2.eu\/es\/wp-json\/wp\/v2\/categories?post=7367"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dupmecp2.eu\/es\/wp-json\/wp\/v2\/tags?post=7367"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}