{"id":2287,"date":"2024-05-13T13:28:52","date_gmt":"2024-05-13T10:28:52","guid":{"rendered":"https:\/\/haberkuzey.com\/index.php\/2024\/05\/13\/isitme-engelli-dogdu-gen-terapisiyle-ilk-kez-annesinin-sesini-duydu\/"},"modified":"2024-05-13T13:28:52","modified_gmt":"2024-05-13T10:28:52","slug":"isitme-engelli-dogdu-gen-terapisiyle-ilk-kez-annesinin-sesini-duydu","status":"publish","type":"post","link":"https:\/\/haberkuzey.com\/index.php\/2024\/05\/13\/isitme-engelli-dogdu-gen-terapisiyle-ilk-kez-annesinin-sesini-duydu\/","title":{"rendered":"\u0130\u015fitme engelli do\u011fdu gen terapisiyle ilk kez annesinin sesini duydu"},"content":{"rendered":"<p><\/p>\n<div>\n<p>&#13;<br \/>\n\t\u0130ngiltere&#8217;de <a href=\"https:\/\/www.trthaber.com\/etiket\/tip-dunyasi\/\" target=\"_blank\" rel=\"noopener\">t\u0131p d\u00fcnyas\u0131<\/a> i\u00e7in \u00e7\u0131\u011f\u0131r a\u00e7\u0131c\u0131 bir geli\u015fme ya\u015fand\u0131.<\/p>\n<p>&#13;<br \/>\n\t\u0130\u015fitsel n\u00f6ropati rahats\u0131zl\u0131\u011f\u0131 nedeniyle do\u011fu\u015ftan i\u015fitme engelli olan 18 ayl\u0131k Opal Sandy, gen tedavisi ile duymaya ba\u015flad\u0131.<\/p>\n<p>&#13;<br \/>\n\tCambridge \u015fehrindeki Addenbrooke\u2019s Hastanesi\u2019nde uygulanan tedavi kapsam\u0131nda 16 dakikal\u0131k bir operasyon s\u0131ras\u0131nda i\u015fitme sorununun kayna\u011f\u0131 olan genin \u00e7al\u0131\u015fan kopyas\u0131 Opal\u2019\u0131n sa\u011f kula\u011f\u0131na enjekte edildi. Operasyonun ard\u0131ndan Opal\u2019\u0131n i\u015fitme duyusu kazand\u0131\u011f\u0131 ve 24 hafta sonra al\u00e7ak sesleri bile duyabildi\u011fi belirtildi.<\/p>\n<h2>&#13;<br \/>\n\t<strong>D\u00fcnya \u00e7ap\u0131nda bu tedaviyi g\u00f6ren ilk hasta\u00a0<\/strong><\/h2>\n<p>&#13;<br \/>\n\t<a href=\"https:\/\/www.trthaber.com\/etiket\/arastirma\/\" target=\"_blank\" rel=\"noopener\">Ara\u015ft\u0131rma<\/a> direkt\u00f6r\u00fc ve kulak cerrah\u0131 Profes\u00f6r Manohar Bance yapt\u0131\u011f\u0131 a\u00e7\u0131klamada, ilk sonu\u00e7lar\u0131n bekledi\u011finden daha iyi oldu\u011funu ifade ederek s\u00f6z konusu rahats\u0131zl\u0131k nedeniyle sa\u011f\u0131rl\u0131\u011f\u0131 olan hastalar\u0131n iyile\u015ftirilebilece\u011fini s\u00f6yledi.\u00a0<\/p>\n<p>&#13;<br \/>\n\tOpal&#8217;\u0131n d\u00fcnya \u00e7ap\u0131nda bu tedaviyi g\u00f6ren ilk hasta oldu\u011funu belirten Bance, \u201cOpal&#8217;dan muhte\u015fem sonu\u00e7lar ald\u0131k. Bu y\u00fczden bunun potansiyel bir tedavi olabilece\u011fini umuyoruz. \u0130nsanlarda ger\u00e7ekten fayda sa\u011flayan bir \u015fey g\u00f6rmek i\u00e7in \u00e7ok fazla \u00e7al\u0131\u015fma yap\u0131ld\u0131. \u00c7al\u0131\u015fmalar onlarca y\u0131l s\u00fcrd\u00fc. Bu ger\u00e7ekten muhte\u015fem ve hayranl\u0131k uyand\u0131r\u0131c\u0131\u201d dedi.\u00a0<\/p>\n<p><\/p>\n<p>&#13;<br \/>\n\tOpal&#8217;\u0131n annesi Jo Sandy, \u201cAlk\u0131\u015f sesini ilk kez duymas\u0131 ak\u0131llara durgunluk vericiydi. Klinik ekip 24\u2019\u00fcnc\u00fc haftada onun daha yumu\u015fak sesleri ve konu\u015fmalar\u0131 alg\u0131lad\u0131\u011f\u0131n\u0131 belirtti\u011finde \u00e7ok mutlu olduk. &#8216;Normale yak\u0131n&#8217; i\u015fitme ifadesi kullan\u0131ld\u0131. Herkes bu kadar muhte\u015fem sonu\u00e7lara ula\u015f\u0131ld\u0131\u011f\u0131 i\u00e7in \u00e7ok heyecanland\u0131\u201d \u015feklinde konu\u015ftu.\u00a0<\/p>\n<p>&#13;<br \/>\n\tOpal&#8217;\u0131n babas\u0131 James Sandy de tedavi s\u00fcrecinde Opal&#8217;\u0131n t\u00fcm konu\u015fma seslerini duyabilmesini hedeflediklerini s\u00f6yledi. Sandy, \u201cGelecekte Opal gibi di\u011fer \u00e7ocuklara ve ailelere yard\u0131mc\u0131 olaca\u011f\u0131n\u0131 umdu\u011fumuz bu t\u00fcr \u00f6nemli bulgulara katk\u0131da bulunmaktan gurur duyuyoruz\u201d ifadesini kulland\u0131.\u00a0<\/p>\n<h2>&#13;<br \/>\n\t\u00c7ok say\u0131da \u00e7ocuk tedavi g\u00f6recek<\/h2>\n<p>&#13;<br \/>\n\t\u0130\u015fitsel n\u00f6ropati, i\u00e7 kula\u011f\u0131n sesi ba\u015far\u0131l\u0131 bir \u015fekilde tespit etti\u011fi ancak sesin kulaktan beyne g\u00f6nderilmesinde bir sorun oldu\u011fu bir i\u015fitme bozuklu\u011fu olarak biliniyor.<\/p>\n<p>&#13;<br \/>\n\tOtoferlin ad\u0131 verilen proteini \u00fcreten OTOF genindeki bir varyasyonundan kaynaklanan rahats\u0131zl\u0131\u011f\u0131n tedavisi i\u00e7in genin \u00e7al\u0131\u015fan bir kopyas\u0131 kula\u011fa enjekte ediliyor.<\/p>\n<p>&#13;<br \/>\n\tHastanede y\u00fcr\u00fct\u00fclen deneme \u00e7al\u0131\u015fmalar\u0131 \u00e7er\u00e7evesinde <a href=\"https:\/\/www.trthaber.com\/etiket\/ispanya\/\" target=\"_blank\" rel=\"noopener\">\u0130spanya<\/a> ve ABD&#8217;li i\u015fitme engelli \u00e7ocuklara da benzer bir tedavi uygulanacak ve 5 y\u0131l boyunca durumlar\u0131 takip edilecek.<\/p>\n<\/p><\/div>\n","protected":false},"excerpt":{"rendered":"<p>&#13; \u0130ngiltere&#8217;de t\u0131p d\u00fcnyas\u0131 i\u00e7in \u00e7\u0131\u011f\u0131r a\u00e7\u0131c\u0131 bir geli\u015fme ya\u015fand\u0131. &#13; \u0130\u015fitsel n\u00f6ropati rahats\u0131zl\u0131\u011f\u0131 nedeniyle do\u011fu\u015ftan i\u015fitme engelli olan 18 ayl\u0131k Opal Sandy, gen tedavisi ile duymaya ba\u015flad\u0131. &#13; Cambridge \u015fehrindeki Addenbrooke\u2019s Hastanesi\u2019nde uygulanan tedavi kapsam\u0131nda 16 dakikal\u0131k bir operasyon s\u0131ras\u0131nda i\u015fitme sorununun kayna\u011f\u0131 olan genin \u00e7al\u0131\u015fan kopyas\u0131 Opal\u2019\u0131n sa\u011f kula\u011f\u0131na enjekte edildi. Operasyonun ard\u0131ndan [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":2288,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"jnews-multi-image_gallery":[],"jnews_single_post":[],"jnews_primary_category":[],"footnotes":""},"categories":[],"tags":[],"class_list":["post-2287","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>\u0130\u015fitme engelli do\u011fdu gen terapisiyle ilk kez annesinin sesini duydu - Haber Kuzey<\/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:\/\/haberkuzey.com\/index.php\/2024\/05\/13\/isitme-engelli-dogdu-gen-terapisiyle-ilk-kez-annesinin-sesini-duydu\/\" \/>\n<meta property=\"og:locale\" content=\"tr_TR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"\u0130\u015fitme engelli do\u011fdu gen terapisiyle ilk kez annesinin sesini duydu - Haber Kuzey\" \/>\n<meta property=\"og:description\" content=\"&#013; \u0130ngiltere&#8217;de t\u0131p d\u00fcnyas\u0131 i\u00e7in \u00e7\u0131\u011f\u0131r a\u00e7\u0131c\u0131 bir geli\u015fme ya\u015fand\u0131. &#013; \u0130\u015fitsel n\u00f6ropati rahats\u0131zl\u0131\u011f\u0131 nedeniyle do\u011fu\u015ftan i\u015fitme engelli olan 18 ayl\u0131k Opal Sandy, gen tedavisi ile duymaya ba\u015flad\u0131. &#013; Cambridge \u015fehrindeki Addenbrooke\u2019s Hastanesi\u2019nde uygulanan tedavi kapsam\u0131nda 16 dakikal\u0131k bir operasyon s\u0131ras\u0131nda i\u015fitme sorununun kayna\u011f\u0131 olan genin \u00e7al\u0131\u015fan kopyas\u0131 Opal\u2019\u0131n sa\u011f kula\u011f\u0131na enjekte edildi. 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