Ba\u015fhekim Prof. Dr. \u00c7o\u011fulu\u2019nun genetik ke\u015ffi \u201cGenetics in Medicine\u201d dergisince kabul g\u00f6rd\u00fc<\/p>\n
\u00a0<\/b>E\u00dcTF Hastanesi Ba\u015fhekimi Prof. Dr. \u00c7o\u011fulu nadir yeni bir genetik sendrom ke\u015ffetti<\/b><\/p>\n
Ege \u00dcniversitesi T\u0131p Fak\u00fcltesi Hastanesi Ba\u015fhekimi ve \u00c7ocuk Sa\u011fl\u0131\u011f\u0131 ve Hastal\u0131klar\u0131 Anabilim Dal\u0131 \u00f6\u011fretim \u00fcyesi Prof. Dr. Muhsin \u00d6zg\u00fcr \u00c7o\u011fulu, \u00fcniversite hastanesine ba\u015fvuran bir hastan\u0131n belirtileri \u00fczerine yapt\u0131\u011f\u0131 \u00e7al\u0131\u015fmalar sonucu nadir yeni bir genetik sendrom ke\u015ffetti. Prof. Dr. \u00c7o\u011fulu\u2019nun ara\u015ft\u0131rmalar\u0131 sonucunda \u00e7e\u015fitli \u00fclkelerden benzer vakalar bulunmas\u0131 ile birlikte yeni genetik sendrom \u201cGenetics in Medicine\u201d dergisince kabul edildi.<\/b><\/p>\n
\u00c7al\u0131\u015fmas\u0131ndan \u00f6t\u00fcr\u00fc Prof. Dr. \u00c7o\u011fulu\u2019yu tebrik eden Ege \u00dcniversitesi Rekt\u00f6r\u00fc Prof. Dr. Necdet Budak, \u201c\u00dcniversitemizin alanlar\u0131nda uzman ve yetkin akademisyenleri, \u00f6zellikle sa\u011fl\u0131k alan\u0131nda ilklere imza atmaya devam ediyor. \u00c7ocuklu\u011fundan bu yana ya\u015fad\u0131\u011f\u0131 \u015fikayetleri tedavi edilemeyince A plus etiketi ta\u015f\u0131yan hastanemize ba\u015fvuran hastam\u0131za yap\u0131lan testler sonucu, Ba\u015fhekimimiz Prof. Dr. Muhsin \u00d6zg\u00fcr \u00c7o\u011fulu ve ekibi hastan\u0131n geninde yeni t\u00fcr bir mutasyon saptayarak \u00e7al\u0131\u015fmalara ba\u015flad\u0131lar. Yurt d\u0131\u015f\u0131ndan da bildirilen benzer vakalar sonucu nadir yeni bir genetik sendrom ke\u015ffedilerek t\u0131p literat\u00fcr\u00fcne kazand\u0131r\u0131lm\u0131\u015f oldu. De\u011ferli Ba\u015fhekimimizi ve ekibini bu dikkatli ve titiz \u00e7al\u0131\u015fmalar\u0131ndan \u00f6t\u00fcr\u00fc tebrik ediyor, ba\u015far\u0131lar\u0131n\u0131n devam\u0131n\u0131 diliyorum. Ege \u00dcniversitesi olarak sa\u011fl\u0131k alan\u0131nda referans olan projelere imza atmaya devam edece\u011fiz\u201d diye konu\u015ftu.<\/p>\n
\u201cHasta hi\u00e7bir tedaviden fayda g\u00f6rmemi\u015f\u201d<\/b><\/p>\n
Yeni genetik sendromun ke\u015fif s\u00fcrecini anlatan Prof. Dr. Muhsin \u00d6zg\u00fcr \u00c7o\u011fulu, \u201cHastam\u0131z, akraba evlili\u011fi yapm\u0131\u015f olan bir ailenin ikinci \u00e7ocu\u011fu ve sa\u011fl\u0131kl\u0131 bir a\u011fabeyi var. \u015eikayetleri 5 ya\u015f\u0131nda ba\u015flam\u0131\u015f. \u00d6zellikle el ve ayak parmaklar\u0131 eklemlerinde tutukluk ve i\u00e7e do\u011fru b\u00fck\u00fclmelerle ilerleme kaydetmi\u015f. Bu \u015fikayetlere a\u011fr\u0131 e\u015flik etmi\u015f. Zaman zaman bacaklarda kas\u0131lmalar olu\u015fmu\u015f. El ayas\u0131 \u00e7izgileri kaybolmaya, deri sertle\u015fmeye ba\u015flam\u0131\u015f. Bacaklarda kramplar olmaktaym\u0131\u015f. Romatizmal bir hastal\u0131k d\u00fc\u015f\u00fcn\u00fclerek tedavi almaya ba\u015flam\u0131\u015f. Bir s\u00fcre sonra \u015fikayetlere \u00a0menisk\u00fcs, adet kanamas\u0131nda artma ve kalp kapa\u011f\u0131 gev\u015fekli\u011fi eklenmi\u015f. Ancak hi\u00e7bir tedaviden fayda g\u00f6rmemi\u015f\u201d dedi.<\/p>\n
\u201cDNA dizi analizinde bir gende mutasyon saptand\u0131\u201d<\/b><\/p>\n
Hastan\u0131n kendilerine 11 ya\u015f\u0131nda ba\u015fvurdu\u011funu ve \u015fu anda 24 ya\u015f\u0131nda oldu\u011funu belirten Prof. Dr. \u00c7o\u011fulu, \u201cHasta bize ba\u015fvurdu\u011fu tarihten itibaren \u00f6\u011fretim \u00fcyesi Prof. Dr. Ferda \u00d6zk\u0131nay, T\u0131bbi Genetik Ana Bilim Dal\u0131 \u00f6\u011fretim \u00fcyeleri Do\u00e7. Dr. Ay\u00e7a Aykut ve Do\u00e7. Dr. Burak Durmaz ile birlikte hastaya baz\u0131 genetik testler yapt\u0131k ve hastan\u0131n tan\u0131mlanmam\u0131\u015f yeni bir genetik sendroma sahip olabilece\u011fi d\u00fc\u015f\u00fcnd\u00fck. Ulusal ve uluslararas\u0131 kongrelerde birka\u00e7 defa yeni bir genetik sendrom olarak sunduk. Bu toplant\u0131lara farkl\u0131 yurtd\u0131\u015f\u0131 merkezlerden ara\u015ft\u0131rmac\u0131lar ilgi g\u00f6sterdiler. Johns Hopkins \u00dcniversitesinde, 2016 y\u0131l\u0131nda yeni bir teknoloji olan t\u00fcm ekzom dizileme y\u00f6ntemi ile yap\u0131lan DNA dizi analizinde \u2018ADAMTS15\u2019 geninde mutasyon (de\u011fi\u015fiklik) saptand\u0131. Ancak bu bulgulara ve genetik \u00f6zelli\u011fe sahip tek olgu oldu\u011fu i\u00e7in bu incelemeyi yapanlar, hastan\u0131n sonu\u00e7lar\u0131n\u0131 daha ileri d\u00fczeyde incelemediler.\u00a0 Bizler hastan\u0131n hikayesinin, klinik ve laboratuvar bulgular\u0131n\u0131n ve genetik sonu\u00e7lar\u0131n\u0131n incelenmesiyle bu hastan\u0131n \u00f6zellikle tan\u0131mlanmam\u0131\u015f bir hastal\u0131\u011f\u0131 ta\u015f\u0131d\u0131\u011f\u0131n\u0131 d\u00fc\u015f\u00fcnd\u00fc\u011f\u00fcm\u00fcz i\u00e7in hastal\u0131\u011f\u0131 ileri d\u00fczeyde ara\u015ft\u0131rmak ad\u0131na planlamalar yapt\u0131k. Hastan\u0131n bulgular\u0131n\u0131n uluslararas\u0131 bir veri taban\u0131na y\u00fcklenmi\u015f olmas\u0131 nedeniyle bir s\u00fcre sonra \u00f6nce Almanya\u2019dan daha sonra da farkl\u0131 \u00fclkelerden 3 aileden 4 benzer olgu daha ayn\u0131 veri taban\u0131na bildirilince, uluslararas\u0131 bir \u00e7al\u0131\u015fma \u00f6nerisi geldi. Biz de kabul ettik. Hayvan modelinde hastal\u0131k ortaya kondu. Fare embriyolar\u0131nda, insanda olu\u015fan hastal\u0131\u011f\u0131n bulgular\u0131n\u0131 a\u00e7\u0131klay\u0131c\u0131 veriler elde edildi. Sonu\u00e7 olarak eklem kontrakt\u00fcrleri ile karakterize nadir yeni bir genetik sendromun tan\u0131mlamas\u0131 yap\u0131larak \u201cGenetics in Medicine\u201d dergisince kabul edildi. Yeni bir hastal\u0131\u011f\u0131n ilk olarak bizim taraf\u0131m\u0131zdan tan\u0131mlanmas\u0131 gurur verici\u201d diye konu\u015ftu.<\/p>\n
\u00a0Prof. Dr. \u00c7o\u011fulu, hastal\u0131\u011fa neden olan mekanizman\u0131n tam olarak belirlenmesi ile birlikte tedavisini de yapabileceklerini belirterek s\u00f6zlerini noktalad\u0131.<\/p>\n","protected":false},"excerpt":{"rendered":"
Ba\u015fhekim Prof. Dr. \u00c7o\u011fulu\u2019nun genetik ke\u015ffi \u201cGenetics in Medicine\u201d dergisince kabul g\u00f6rd\u00fc \u00a0E\u00dcTF Hastanesi Ba\u015fhekimi…<\/p>\n","protected":false},"author":2,"featured_media":10751,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[69,99,1,70,68],"tags":[],"class_list":["post-10750","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-bilim","category-egitim","category-gncl","category-kampus","category-saglik"],"featured_image_urls":{"full":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/09\/EGE-Prof.Dr_.-Necdet-Budak-Prof.-Dr.-Ozgur-Cogulu.jpg",1265,1423,false],"thumbnail":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/09\/EGE-Prof.Dr_.-Necdet-Budak-Prof.-Dr.-Ozgur-Cogulu-150x150.jpg",150,150,true],"medium":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/09\/EGE-Prof.Dr_.-Necdet-Budak-Prof.-Dr.-Ozgur-Cogulu-267x300.jpg",267,300,true],"medium_large":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/09\/EGE-Prof.Dr_.-Necdet-Budak-Prof.-Dr.-Ozgur-Cogulu-768x864.jpg",640,720,true],"large":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/09\/EGE-Prof.Dr_.-Necdet-Budak-Prof.-Dr.-Ozgur-Cogulu-910x1024.jpg",640,720,true],"1536x1536":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/09\/EGE-Prof.Dr_.-Necdet-Budak-Prof.-Dr.-Ozgur-Cogulu.jpg",1265,1423,false],"2048x2048":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/09\/EGE-Prof.Dr_.-Necdet-Budak-Prof.-Dr.-Ozgur-Cogulu.jpg",1265,1423,false],"newsphere-slider-full":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/09\/EGE-Prof.Dr_.-Necdet-Budak-Prof.-Dr.-Ozgur-Cogulu-1265x720.jpg",1265,720,true],"newsphere-featured":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/09\/EGE-Prof.Dr_.-Necdet-Budak-Prof.-Dr.-Ozgur-Cogulu-1024x1152.jpg",1024,1152,true],"newsphere-medium":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/09\/EGE-Prof.Dr_.-Necdet-Budak-Prof.-Dr.-Ozgur-Cogulu-720x380.jpg",720,380,true]},"author_info":{"display_name":"Editor","author_link":"https:\/\/www.euegeajans.com\/index.php\/author\/editor\/"},"category_info":"Bilim<\/a> E\u011fitim<\/a> G\u00fcncel<\/a> Kamp\u00fcs<\/a> Sa\u011fl\u0131k<\/a>","tag_info":"Sa\u011fl\u0131k","comment_count":"0","_links":{"self":[{"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/posts\/10750","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/comments?post=10750"}],"version-history":[{"count":1,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/posts\/10750\/revisions"}],"predecessor-version":[{"id":10752,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/posts\/10750\/revisions\/10752"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/media\/10751"}],"wp:attachment":[{"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/media?parent=10750"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/categories?post=10750"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/tags?post=10750"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}