{"id":4871,"date":"2022-08-10T08:28:39","date_gmt":"2022-08-10T08:28:39","guid":{"rendered":"https:\/\/dentalestetikcenter.com\/?p=4871"},"modified":"2024-09-05T08:29:21","modified_gmt":"2024-09-05T08:29:21","slug":"pura-sendromu-nedir","status":"publish","type":"post","link":"https:\/\/dentalestetikcenter.com\/fr\/quest-ce-que-le-syndrome-de-pura\/","title":{"rendered":"Qu\u2019est-ce que le syndrome de Pura ?"},"content":{"rendered":"<div data-elementor-type=\"wp-post\" data-elementor-id=\"4871\" class=\"elementor elementor-4871\" data-elementor-post-type=\"post\">\n\t\t\t\t<div class=\"elementor-element elementor-element-c972a52 e-flex e-con-boxed e-con e-parent\" data-id=\"c972a52\" data-element_type=\"container\" data-settings=\"{&quot;_ha_eqh_enable&quot;:false}\" data-core-v316-plus=\"true\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-6a037c3 elementor-widget elementor-widget-text-editor\" data-id=\"6a037c3\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.20.0 - 26-03-2024 *\/\n.elementor-widget-text-editor.elementor-drop-cap-view-stacked .elementor-drop-cap{background-color:#69727d;color:#fff}.elementor-widget-text-editor.elementor-drop-cap-view-framed .elementor-drop-cap{color:#69727d;border:3px solid;background-color:transparent}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap{margin-top:8px}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap-letter{width:1em;height:1em}.elementor-widget-text-editor .elementor-drop-cap{float:left;text-align:center;line-height:1;font-size:50px}.elementor-widget-text-editor .elementor-drop-cap-letter{display:inline-block}<\/style>\t\t\t\t<div class=\"w-post-elm post_content\"><div class=\"w-post-elm post_content\"><div class=\"w-post-elm post_content\"><div class=\"w-post-elm post_content\"><div class=\"w-post-elm post_content\"><div class=\"w-post-elm post_content\"><div class=\"w-post-elm post_content\"><p>Le syndrome de Pura est une maladie g\u00e9n\u00e9tique tr\u00e8s nouvelle et rare qui n'a \u00e9t\u00e9 identifi\u00e9e qu'en 2014 et qui est caus\u00e9e par une erreur dans le g\u00e8ne pura ou par l'absence d'une copie du g\u00e8ne.<\/p><p>Le g\u00e8ne Pura est situ\u00e9 sur le bras long du chromosome 5 (5q31.2) et est responsable du codage de la prot\u00e9ine Pur-alpha. Ce g\u00e8ne joue un r\u00f4le important notamment dans le d\u00e9veloppement c\u00e9r\u00e9bral postnatal.<\/p><p>Le syndrome de Pura se caract\u00e9rise par un retard de croissance, des troubles d'apprentissage, des probl\u00e8mes respiratoires, des convulsions et un faible tonus musculaire (hypotonie). Autres sympt\u00f4mes observ\u00e9s\u00a0:<\/p><ul><li>visage myopathique (les muscles du visage sont faibles et ils ont du mal \u00e0 ouvrir les paupi\u00e8res et \u00e0 pincer les l\u00e8vres)<\/li><li>troubles visuels (strabisme, hyperm\u00e9tropie, nystagmus)<\/li><li>d\u00e9lai de premi\u00e8re \u00e9tape (28 mois \u00e0 7 ans)<\/li><li>troubles du mouvement, hypermobilit\u00e9 (mouvements excessifs et involontaires des articulations)<\/li><li>probl\u00e8mes orthop\u00e9diques tels que luxation de la hanche et scoliose<\/li><li>mouvements r\u00e9p\u00e9titifs de la main<\/li><li>\u00e9pilepsie (50%)<\/li><li>Troubles endocriniens tels que la carence en vitamine D<\/li><li>hoquet excessif<\/li><li>troubles de la d\u00e9glutition et de l'alimentation<\/li><li>bave excessive<\/li><li>reflux<\/li><li>constipation<\/li><\/ul><p>Le diagnostic d\u00e9finitif est pos\u00e9 par un examen g\u00e9n\u00e9tique mol\u00e9culaire dans les cas suspect\u00e9s cliniquement et ph\u00e9notypiquement.<\/p><p>Le traitement du syndrome de Pura est d\u00e9termin\u00e9 sp\u00e9cifiquement pour chaque individu. Un soutien th\u00e9rapeutique physique pour le mouvement et la marche, un traitement m\u00e9dicamenteux avec un suivi neurologique en cas d'\u00e9pilepsie ou de convulsions, un soutien \u00e9ducatif sp\u00e9cial pour le retard d'\u00e9locution et mental et une approche multidisciplinaire pour d'autres probl\u00e8mes existants sont importants.<\/p><p>Il a \u00e9t\u00e9 observ\u00e9 que m\u00eame les patients pr\u00e9sentant une faiblesse musculaire s\u00e9v\u00e8re peuvent commencer \u00e0 marcher apr\u00e8s l\u2019\u00e2ge de 5 ans.<\/p><p>Une sonde de gastrostomie peut devoir \u00eatre plac\u00e9e chez les patients qui ont des difficult\u00e9s \u00e0 avaler en raison d'une faiblesse musculaire.<\/p><p>Il n\u2019existe pas suffisamment d\u2019\u00e9tudes sur le d\u00e9veloppement des dents et de la m\u00e2choire. Apr\u00e8s un examen d\u00e9taill\u00e9 de la sant\u00e9 bucco-dentaire, un traitement et des recommandations peuvent \u00eatre formul\u00e9s pour l\u2019individu.<\/p><p>Il ne faut pas oublier que les personnes qui utilisent des m\u00e9dicaments contre l\u2019\u00e9pilepsie peuvent souffrir de probl\u00e8mes de gencives et d\u2019une hypertrophie des gencives. L'usure et l'\u00e9rosion des dents peuvent survenir en raison du reflux. Bien qu'il n'y ait pas suffisamment d'\u00e9tudes, des raisons telles que l'utilisation de m\u00e9dicaments contre l'\u00e9pilepsie, le sous-d\u00e9veloppement des muscles de la m\u00e2choire et du visage et le reflux peuvent provoquer des serrements et des grincements de dents.<\/p><p>Il est n\u00e9cessaire et important que le parent ou la personne responsable effectue un nettoyage dentaire et des soins bucco-dentaires deux fois par jour avec un dentifrice fluor\u00e9, m\u00eame si le patient est incapable de cracher. Le dentiste doit d\u00e9terminer comment les soins bucco-dentaires doivent \u00eatre prodigu\u00e9s sp\u00e9cifiquement \u00e0 la personne, en fonction de ses capacit\u00e9s cognitives et de sa coordination physique, et lui expliquer en d\u00e9tail et\/ou au parent ou \u00e0 la personne responsable, et guider l'utilisation et une s\u00e9lection de dentifrice, de brosse \u00e0 dents, de fil dentaire et de bain de bouche devrait l'\u00eatre.<\/p><p>Des contr\u00f4les dentaires r\u00e9guliers au moins deux fois par an sont importants pour d\u00e9tecter rapidement les probl\u00e8mes et maintenir la situation actuelle.<\/p><p><em><u>*www.purasyndrome.org<\/u><\/em><\/p><p><strong>Pediatric Dentist Cansu Uzun \u00d6nalan<\/strong><\/p><\/div><\/div><\/div><\/div><\/div><\/div><\/div>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>Pura sendromu hen\u00fcz 2014 y\u0131l\u0131nda tan\u0131mlanm\u0131\u015f olan \u00e7ok yeni diyebilece\u011fimiz, pura geninde bir hata ya da genin bir kopyas\u0131n\u0131n eksikli\u011fi nedeniyle meydana gelen nadir g\u00f6r\u00fclen bir genetik hastal\u0131kt\u0131r. Pura geni 5.kromozomun uzun kolunda bulunur (5q31.2) ve Pur-alfa proteinin kodlanmas\u0131ndan sorumludur. Bu genin \u00f6zellikle do\u011fum sonras\u0131 beyin geli\u015fiminde \u00f6nemli rol\u00fc vard\u0131r. Pura sendromu, b\u00fcy\u00fcme geli\u015fme gerili\u011fi, [&hellip;]<\/p>","protected":false},"author":1,"featured_media":4872,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"content-type":"","footnotes":""},"categories":[21],"tags":[],"class_list":["post-4871","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-haber-bulteni"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.3 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Pura Sendromu Nedir? - Dental Estetik Center<\/title>\n<meta name=\"description\" content=\"Pura sendromu hen\u00fcz 2014 y\u0131l\u0131nda tan\u0131mlanm\u0131\u015f olan \u00e7ok yeni diyebilece\u011fimiz, pura geninde bir hata ya da genin bir kopyas\u0131n\u0131n eksikli\u011fi nedeniyle meydana gelen nadir g\u00f6r\u00fclen bir genetik hastal\u0131kt\u0131r.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dentalestetikcenter.com\/fr\/quest-ce-que-le-syndrome-de-pura\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Pura Sendromu Nedir? 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