{"id":950,"date":"2021-03-09T11:29:03","date_gmt":"2021-03-09T11:29:03","guid":{"rendered":"https:\/\/ring20researchsupport.co.uk\/?page_id=950"},"modified":"2021-05-12T14:27:03","modified_gmt":"2021-05-12T13:27:03","slug":"signs-symptoms","status":"publish","type":"page","link":"https:\/\/ring20researchsupport.co.uk\/cs\/for-medics-researchers\/signs-symptoms\/","title":{"rendered":"P\u0159\u00edznaky a p\u0159\u00edznaky"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"950\" class=\"elementor elementor-950\" data-elementor-post-type=\"page\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-9c19453 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"9c19453\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-b25aa14\" data-id=\"b25aa14\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-b3b7e0c elementor-widget elementor-widget-heading\" data-id=\"b3b7e0c\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Zn\u00e1mky a p\u0159\u00edznaky r(20) syndromu<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-41a2a19 elementor-widget elementor-widget-text-editor\" data-id=\"41a2a19\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<p>\u017d\u00e1d\u00e1me v\u00e1s, abyste zv\u00e1\u017eili chromozom\u00e1ln\u00ed anal\u00fdzu, pokud m\u00e1te pacienta s n\u00e1sleduj\u00edc\u00edmi p\u0159\u00edznaky:<\/p><ul><li>Ve v\u011bt\u0161in\u011b p\u0159\u00edpad\u016f norm\u00e1ln\u00ed d\u011btsk\u00fd v\u00fdvoj a\u017e do propuknut\u00ed epilepsie<\/li><li>P\u0159ev\u00e1\u017en\u011b fok\u00e1ln\u00ed z\u00e1chvaty s poruchou v\u011bdom\u00ed<\/li><li>Medic\u00ednsky refraktern\u00ed epilepsie s dlouhotrvaj\u00edc\u00edmi fok\u00e1ln\u00edmi z\u00e1chvaty s poruchou v\u011bdom\u00ed s norm\u00e1ln\u00edm neurozobrazen\u00edm<\/li><li>\u010cast\u00e9 no\u010dn\u00ed z\u00e1chvaty (ve v\u011bt\u0161in\u011b p\u0159\u00edpad\u016f nen\u00e1padn\u00e9 a p\u016fvodem z \u010deln\u00edho laloku)<\/li><li>Interikt\u00e1ln\u00ed <span class='tooltipsall tooltipsincontent classtoolTips1'>EEG<\/span> s charakteristick\u00fdm vzhledem se sledy theta vln, s vrcholem p\u0159i 5 Hz a ost\u0159e tvarovan\u00fdm nebo vroubkovan\u00fdm vzhledem<\/li><li>Epilepsie (\u010dasto nastupuje mezi 4. a 11. rokem), m\u016f\u017ee b\u00fdt spojena s kognitivn\u00edmi pot\u00ed\u017eemi (epileptick\u00e1 encefalopatie) a s nekonvulzivn\u00edm statusem epilepticus<\/li><li>Nedostatek dysmorfismu nebo jin\u00fdch vrozen\u00fdch malformac\u00ed<\/li><li>Kognitivn\u00ed poruchy\/obt\u00ed\u017ee s u\u010den\u00edm velmi \u010dasto po propuknut\u00ed epilepsie<\/li><li>Porucha chov\u00e1n\u00ed<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-8e5de06\" data-id=\"8e5de06\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-7d730be elementor-widget elementor-widget-image\" data-id=\"7d730be\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" width=\"188\" height=\"253\" src=\"https:\/\/ring20researchsupport.co.uk\/wp-content\/uploads\/2021\/04\/Mosaic-man-poster.png\" class=\"attachment-large size-large wp-image-4611\" alt=\"\" srcset=\"https:\/\/ring20researchsupport.co.uk\/wp-content\/uploads\/2021\/04\/Mosaic-man-poster.png 188w, https:\/\/ring20researchsupport.co.uk\/wp-content\/uploads\/2021\/04\/Mosaic-man-poster-9x12.png 9w\" sizes=\"(max-width: 188px) 100vw, 188px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-4c1f629 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"4c1f629\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-b4deee3\" data-id=\"b4deee3\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-e6e5083 elementor-widget elementor-widget-heading\" data-id=\"e6e5083\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Pro\u010d je diagnostika syndromu r(20) d\u016fle\u017eit\u00e1<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-b01e11c elementor-widget elementor-widget-text-editor\" data-id=\"b01e11c\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<p>Existuje mnoho d\u016fvod\u016f, pro\u010d maj\u00ed pacienti z\u00e1chvaty, genetick\u00e9 i negenetick\u00e9. Nalezen\u00ed p\u0159\u00ed\u010diny je pro l\u00e9ka\u0159e nesm\u00edrn\u011b u\u017eite\u010dn\u00e9 p\u0159i veden\u00ed l\u00e9\u010dby, identifikaci dal\u0161\u00edch klinick\u00fdch probl\u00e9m\u016f, kter\u00fdmi mohou b\u00fdt pacienti ohro\u017eeni, a poskytov\u00e1n\u00ed prognostick\u00fdch informac\u00ed. Nalezen\u00ed p\u0159\u00ed\u010diny je tedy pro pacienty n\u00e1pomocn\u00e9, a to jak z pr\u00e1v\u011b uveden\u00fdch d\u016fvod\u016f, tak i proto, \u017ee poskytuje vysv\u011btlen\u00ed pot\u00ed\u017e\u00ed jejich d\u00edt\u011bte. Proto\u017ee syndrom prstencov\u00e9ho chromozomu 20 je diagnostikov\u00e1n anal\u00fdzou chromozom\u016f, kter\u00e1 se b\u011b\u017en\u011b neprov\u00e1d\u00ed u v\u0161ech pacient\u016f se z\u00e1chvaty, domn\u00edv\u00e1me se, \u017ee tato porucha je pravd\u011bpodobn\u011b nedostate\u010dn\u011b diagnostikov\u00e1na. Zva\u017eov\u00e1n\u00ed r(20) jako potenci\u00e1ln\u00edho zdroje v\u00fdsledn\u00fdch symptom\u016f a z\u00edsk\u00e1n\u00ed vhodn\u00e9ho testov\u00e1n\u00ed by mohlo rodin\u00e1m pomoci vy\u0159e\u0161it diagnostickou odyseu a zajistit, aby byly zavedeny vhodn\u00e9 l\u00e9\u010debn\u00e9 pl\u00e1ny.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-f5f6fdd elementor-widget elementor-widget-menu-anchor\" data-id=\"f5f6fdd\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"menu-anchor.default\">\n\t\t\t\t\t\t\t<div class=\"elementor-menu-anchor\" id=\"howtodiagnose\"><\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-4a834f4 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"4a834f4\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-f71452e\" data-id=\"f71452e\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-e620e41 elementor-widget elementor-widget-image\" data-id=\"e620e41\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"1024\" height=\"839\" src=\"https:\/\/ring20researchsupport.co.uk\/wp-content\/uploads\/2021\/03\/investigation-5407786_1280-1024x839.png\" class=\"attachment-large size-large wp-image-1019\" alt=\"\" srcset=\"https:\/\/ring20researchsupport.co.uk\/wp-content\/uploads\/2021\/03\/investigation-5407786_1280-1024x839.png 1024w, https:\/\/ring20researchsupport.co.uk\/wp-content\/uploads\/2021\/03\/investigation-5407786_1280-600x492.png 600w, https:\/\/ring20researchsupport.co.uk\/wp-content\/uploads\/2021\/03\/investigation-5407786_1280-300x246.png 300w, https:\/\/ring20researchsupport.co.uk\/wp-content\/uploads\/2021\/03\/investigation-5407786_1280-768x629.png 768w, https:\/\/ring20researchsupport.co.uk\/wp-content\/uploads\/2021\/03\/investigation-5407786_1280-16x12.png 16w, https:\/\/ring20researchsupport.co.uk\/wp-content\/uploads\/2021\/03\/investigation-5407786_1280.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-a4e997b\" data-id=\"a4e997b\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-84e00cd elementor-widget elementor-widget-heading\" data-id=\"84e00cd\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Co d\u011blat, pokud m\u00e1te podez\u0159en\u00ed na syndrom r(20).<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-9cf2f17 elementor-widget elementor-widget-text-editor\" data-id=\"9cf2f17\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<p>P\u0159i podez\u0159en\u00ed na r(20) syndrom je nezbytn\u00e9 cytogenetick\u00e9 (chromozomov\u00e9) potvrzen\u00ed diagn\u00f3zy.<\/p><p>Vzhledem k tomu, \u017ee chromozom\u00e1ln\u00ed anal\u00fdza nebo testov\u00e1n\u00ed karyotypu nejsou rutinn\u00edm vy\u0161et\u0159en\u00edm, kdy\u017e se epilepsie poprv\u00e9 projev\u00ed, m\u016f\u017ee b\u00fdt diagn\u00f3za syndromu r(20) opo\u017ed\u011bna nebo m\u016f\u017ee z\u016fstat nerozpozn\u00e1na.<\/p><p>Pozn\u00e1mka:<\/p><ul><li>Prstenec 20 jsme vid\u011bli ji\u017e v 5% bu\u0148k\u00e1ch a doporu\u010dujeme po\u017e\u00e1dat o screening chromozom\u00e1ln\u00ed mozaiky. Proto\u017ee r(20) syndrom se m\u016f\u017ee prezentovat jako mozaika s prstencem pouze v mal\u00e9m po\u010dtu bun\u011bk, mus\u00ed b\u00fdt analyzov\u00e1no minim\u00e1ln\u011b 50 bun\u011bk.<\/li><li><span style=\"text-decoration: underline;\"><strong>Nov\u011bj\u0161\u00ed technologie pole (pole CGH nebo SNP) NEZjist\u00ed prstencov\u00fd chromozom a doporu\u010dujeme standardn\u00ed metaf\u00e1zovou chromozomovou anal\u00fdzu.<\/strong><\/span><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-2dc0b79 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"2dc0b79\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-7e76062\" data-id=\"7e76062\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-4e7daa6 elementor-widget elementor-widget-heading\" data-id=\"4e7daa6\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Vhodn\u00fd diagnostick\u00fd testovac\u00ed postup pro r(20) syndrom<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-beacac5 elementor-widget elementor-widget-text-editor\" data-id=\"beacac5\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<p>Prsten 20 je obvykle diagnostikov\u00e1n cytogenetickou (chromozomovou) anal\u00fdzou z mal\u00e9ho vzorku krve. The <span class='tooltipsall tooltipsincontent classtoolTips0'>Chromozomy<\/span> z bun\u011bk v krvi se vy\u0161et\u0159uj\u00ed a prstenec je obvykle patrn\u00fd pod mikroskopem. Diagn\u00f3zu lze prov\u00e9st i z ko\u017en\u00edch bun\u011bk.<\/p><p>Nov\u011bj\u0161\u00ed testy DNA, jako je sekvenov\u00e1n\u00ed, vynechaj\u00ed prstence. Chromozom\u00e1ln\u00ed mikro\u010dipov\u00e9 testov\u00e1n\u00ed identifikuje delece, ke kter\u00fdm m\u016f\u017ee doj\u00edt p\u0159i vytvo\u0159en\u00ed prstence, ale to plat\u00ed pouze u 1\/3 pacient\u016f z prstence 20. Pro diagn\u00f3zu z\u016fst\u00e1v\u00e1 nutn\u00e9 pod\u00edvat se na <span class='tooltipsall tooltipsincontent classtoolTips0'>Chromozomy<\/span> mikroskopem vid\u011bt jejich tvar. Dal\u0161\u00ed molekul\u00e1rn\u011b genetick\u00e9 testy, jako je FISH a mikro\u010dipy ze stejn\u00e9ho vzorku krve, v\u0161ak p\u0159esn\u011bji uk\u00e1\u017e\u00ed, kde se konce chromozomu zlomily a kolik materi\u00e1lu chromozomu, pokud n\u011bjak\u00fd, chyb\u00ed. Krou\u017eek 20 m\u016f\u017ee b\u00fdt tak\u00e9 analyzov\u00e1n z ko\u017en\u00edch bun\u011bk, ale to je vz\u00e1cn\u00e9, proto\u017ee z\u00edsk\u00e1n\u00ed biopsie k\u016f\u017ee pro test je invazivn\u011bj\u0161\u00ed a v\u011bt\u0161ina l\u00e9ka\u0159\u016f a pacient\u016f d\u00e1v\u00e1 p\u0159ednost z\u00edsk\u00e1n\u00ed vzorku krve.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-7fbebdc elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"7fbebdc\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-145b6cc\" data-id=\"145b6cc\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-3103739 elementor-widget elementor-widget-text-editor\" data-id=\"3103739\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<em>V\u00fd\u0161e uveden\u00e9 informace laskav\u011b poskytla Nancy B. Spinner, PhD, FACMG <\/em><em>Bromley Chair, profesor patologie a laboratorn\u00ed medic\u00edny <\/em><em>Vedouc\u00ed odd\u011blen\u00ed genomick\u00e9 diagnostiky v D\u011btsk\u00e9 nemocnici ve Filadelfii Perelman School of Medicine, U of Penn.<\/em>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t<script type=\"text\/javascript\"> toolTips('.classtoolTips0','Chromosomes are long string-like structures that store all of our DNA. Each cell in the human body usually has 23 pairs of chromosomes (or 46 chromosomes in total).'); <\/script><script type=\"text\/javascript\"> toolTips('.classtoolTips1','Electroencephalography'); <\/script>","protected":false},"excerpt":{"rendered":"<p>Signs and Symptoms of r(20) syndrome We ask that you please consider chromosomal analysis if you have a patient with the following symptoms: In most of the cases normal childhood development until onset of epilepsy Predominantly focal impaired awareness seizures Medically refractory epilepsy with long lasting focal seizures with impaired awareness with normal neuroimaging Frequent [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":76,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"disabled","ast-breadcrumbs-content":"","ast-featured-img":"disabled","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"class_list":["post-950","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Signs &amp; 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