{"id":12301,"date":"2022-08-01T17:58:00","date_gmt":"2022-08-01T14:58:00","guid":{"rendered":"http:\/\/blog.ulubat.org\/?p=12301"},"modified":"2022-08-13T17:12:05","modified_gmt":"2022-08-13T14:12:05","slug":"acinin-mucizesi","status":"publish","type":"post","link":"https:\/\/blog.ulubat.org\/index.php\/genel\/acinin-mucizesi\/","title":{"rendered":"ACININ MUC\u0130ZES\u0130"},"content":{"rendered":"\n<figure class=\"wp-block-audio\"><audio controls src=\"https:\/\/blog.ulubat.org\/wp-content\/uploads\/2022\/08\/Acinin-mucizesi-2-1.mp3\"><\/audio><\/figure>\n\n\n\n<p>Do\u011fal olarak kimse can\u0131n\u0131n ac\u0131mas\u0131n\u0131 istemez. Peki, size asl\u0131nda bu ac\u0131n\u0131n bizi v\u00fccudumuzda neler oldu\u011fuyla ilgili bilgilendirdi\u011fini hatta bazen de bizim hayat\u0131m\u0131z\u0131 kurtard\u0131\u011f\u0131n\u0131 s\u00f6ylesem ne dersiniz?<\/p>\n\n\n\n<p>\u00d6ncelikle ac\u0131 bir d\u0131\u015f ya da i\u00e7 etki nedeniyle v\u00fccudun bir yerinde olu\u015fan keskin a\u011fr\u0131 olarak tan\u0131mlan\u0131r ya da ba\u015fka bir bak\u0131\u015f a\u00e7\u0131s\u0131yla v\u00fccuttaki herhangi anormalli\u011fi v\u00fccuda bildiren tetikleyicidir. Yani, asl\u0131nda ac\u0131 bir nevi bizi koruma ve bize v\u00fccudumuzla ilgili bilgi verme mekanizmas\u0131 oldu\u011fu i\u00e7in asl\u0131nda \u00e7ok da \u00f6nemlidir. Fakat do\u011fu\u015ftan ya da sonradan olu\u015fan a\u011fr\u0131 hissi ya da alg\u0131s\u0131n\u0131n eksik oldu\u011fu ki\u015filerin oldu\u011funu biliyor muydunuz?<\/p>\n\n\n\n<p>CIPA, konjenital a\u011fr\u0131 duyars\u0131zl\u0131\u011f\u0131 ve anhidrosis ya da do\u011fu\u015ftan ac\u0131ya duyars\u0131zl\u0131k sendromu olarak da tan\u0131mlan\u0131r. Konjenital a\u011fr\u0131ya duyars\u0131zl\u0131k sendromu olduk\u00e7a nadir olarak g\u00f6r\u00fclen kal\u0131tsal duyusal ve otonomik n\u00f6ropati olarak bilinen hastal\u0131kt\u0131r.<\/p>\n\n\n\n<p>Bir\u00e7ok sistemi etkiler ve hastada v\u00fccut i\u00e7in \u00f6nemli bir korunma arac\u0131 olan a\u011fr\u0131 alg\u0131s\u0131 yoktur. Hastalar a\u011fr\u0131l\u0131 uyaranlara yan\u0131ts\u0131z olup, v\u00fccudun \u0131s\u0131 kontrol\u00fcnde bozulma, nedeni a\u00e7\u0131klanamayan ate\u015flenme, g\u00f6zya\u015f\u0131 kurulu\u011fu, tekrarlayan travmatik yaralar, boy ve kilonun ya\u015f\u0131tlar\u0131na g\u00f6re daha d\u00fc\u015f\u00fck olmas\u0131 ve de\u011fi\u015fik derecelerde mental retardasyon ile k\u00fc\u00e7\u00fck miyelinize liflerin kayb\u0131 bu hastal\u0131\u011f\u0131n bariz \u00f6zelliklerindendir.<\/p>\n\n\n\n<p>Peki, b\u00f6yle bir hastal\u0131k ne sonucu ortaya \u00e7\u0131k\u0131yor? NaV1.7 ad\u0131 verilen sodyum kanal\u0131n\u0131n alfa alt birimi olarak adland\u0131r\u0131lan bir par\u00e7as\u0131n\u0131 yapmak i\u00e7in talimatlar sa\u011flayan SCN9A geninin mutasyona u\u011framas\u0131 sonucu ortaya \u00e7\u0131k\u0131yor.<\/p>\n\n\n\n<p>Sodyum kanallar\u0131, bir h\u00fccrenin elektrik sinyalleri \u00fcretme ve iletmesinde \u00f6nemli rol oynayan pozitif y\u00fckl\u00fc sodyum iyonlar\u0131n\u0131 h\u00fccrelere ta\u015f\u0131r. NaV1.7 sodyum kanallar\u0131, a\u011fr\u0131 sinyallerini omurili\u011fe ve beyne ileten nosisept\u00f6r ad\u0131 verilen sinir h\u00fccrelerinde bulunur. Ayr\u0131ca NaV1.7 kanal\u0131, kokuyla ilgili sinyalleri beyne ileten burun bo\u015flu\u011fundaki sinir h\u00fccreleri olan koku alma duyu n\u00f6ronlar\u0131nda da bulunur.<\/p>\n\n\n\n<p>CIPA\u2019ya neden olan SCN9A gen mutasyonlar\u0131, NaV1.7 kanallar\u0131na dahil edilemeyen yani fonksiyonel olmayan alfa alt birimlerinin \u00fcretilmesine neden olur. Sonu\u00e7 olarak, kanallar olu\u015fturulamaz. NaV1.7 kanallar\u0131n\u0131n yoklu\u011fu, a\u011fr\u0131 sinyallerinin yaralanma b\u00f6lgesinden beyne iletilmesini bozarak, etkilenenlerin a\u011fr\u0131ya kar\u015f\u0131 duyars\u0131z olmas\u0131na neden olur. Koku alma duyu n\u00f6ronlar\u0131nda bu kanal\u0131n kayb\u0131, muhtemelen kokuyla ilgili sinyallerin beyne iletilmesini bozarak anosmiye (koku k\u00f6rl\u00fc\u011f\u00fcne) yol a\u00e7ar.<\/p>\n\n\n\n<p>Bunlar sonucunda da bu hastal\u0131\u011fa sahip olan insanlar v\u00fccutlar\u0131ndaki tehlikeden haberdar olamad\u0131klar\u0131ndan y\u00fcksek \u00f6l\u00fcm riskiyle kar\u015f\u0131 kar\u015f\u0131yad\u0131rlar.<\/p>\n\n\n\n<p>Yazar: Senanur G\u00fclce<\/p>\n\n\n\n<p>Edit\u00f6rler:&nbsp; \u0130dil Alt\u0131nta\u015f, Hilal T\u00fcrkan<\/p>\n\n\n\n<p>KONJEN\u0120TAL A\u011eRI DUYARSIZLI\u011eI VE ANH\u0120DROS\u0120S (CIPA): OLGU SUNUMU:<\/p>\n\n\n\n<p><a href=\"https:\/\/dergipark.org.tr\/tr\/download\/article-file\/28191#:~:text=%C3%96ZET-,Konjenital%20a%C4%9Fr%C4%B1%20duyars%C4%B1zl%C4%B1%C4%9F%C4%B1%20ve%20anhidrosis%20(CIPA)%2C%20erken%20%C3%A7ocukluk%20d%C3%B6neminde,do%C4%9Fumdan%20itibaren%20a%C4%9Fr%C4%B1%20duyusu%20yoktur.\">https:\/\/dergipark.org.tr\/tr\/download\/article-file\/28191#:~:text=%C3%96ZET-,Konjenital%20a%C4%9Fr%C4%B1%20duyars%C4%B1zl%C4%B1%C4%9F%C4%B1%20ve%20anhidrosis%20(CIPA)%2C%20erken%20%C3%A7ocukluk%20d%C3%B6neminde,do%C4%9Fumdan%20itibaren%20a%C4%9Fr%C4%B1%20duyusu%20yoktur.<\/a><\/p>\n\n\n\n<p>The curse of the people who never feel pain:<\/p>\n\n\n\n<p><a href=\"https:\/\/www.bbc.com\/future\/article\/20170426-the-people-who-never-feel-any-pain\">https:\/\/www.bbc.com\/future\/article\/20170426-the-people-who-never-feel-any-pain<\/a><\/p>\n\n\n\n<p>Congenital insensitivity to pain:<\/p>\n\n\n\n<p><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/congenital-insensitivity-to-pain\/#causes\">https:\/\/medlineplus.gov\/genetics\/condition\/congenital-insensitivity-to-pain\/#causes<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Do\u011fal olarak kimse can\u0131n\u0131n ac\u0131mas\u0131n\u0131 istemez. Peki, size asl\u0131nda bu ac\u0131n\u0131n bizi v\u00fccudumuzda neler oldu\u011fuyla ilgili bilgilendirdi\u011fini hatta bazen de<\/p>\n","protected":false},"author":1151,"featured_media":12302,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[1,25],"tags":[73,543,76,265,66],"acf":[],"views":495,"_links":{"self":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/12301"}],"collection":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/users\/1151"}],"replies":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/comments?post=12301"}],"version-history":[{"count":2,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/12301\/revisions"}],"predecessor-version":[{"id":12405,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/12301\/revisions\/12405"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media\/12302"}],"wp:attachment":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media?parent=12301"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/categories?post=12301"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/tags?post=12301"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}