Mjek\u00ebt n\u00eb Australi kan\u00eb zbuluar nj\u00ebgjendje ultra-t\u00eb rrall\u00eb q\u00eb gradualisht e verbon nj\u00eb pjes\u00eb t\u00eb vog\u00ebl t\u00eb familjeve n\u00eb mbar\u00eb bot\u00ebn dhe tani ata po garojn\u00eb p\u00ebr t\u00eb gjetur nj\u00eb m\u00ebnyr\u00eb p\u00ebr ta trajtuar at\u00eb.<\/p>\n
Shenjat e gjendjes s\u00eb par\u00eb u zbuluan n\u00eb Australi, kur n\u00ebna Beth \u00cbhile vizitoi mjek\u00ebt pasi p\u00ebrjetoi probleme t\u00eb humbjes s\u00eb shikimit n\u00eb 2004.<\/p>\n
Kat\u00ebr vjet m\u00eb par\u00eb, f\u00ebmij\u00ebt e Beth filluan t\u00eb zhvillojn\u00eb simptoma t\u00eb ngjashme.<\/p>\n
Tani nj\u00eb studim i ri lidh humbjen e vizionit q\u00eb kjo familje po p\u00ebrjeton me tregime t\u00eb ngjashme nga kat\u00ebr familje t\u00eb tjera n\u00eb mbar\u00eb bot\u00ebn dhe gjithashtu identifikon nj\u00eb shkak gjenetik.<\/p>\n
“E kisha par\u00eb familjen dhe e dinim q\u00eb Beth kishte nj\u00eb retin\u00eb t\u00eb dyfisht\u00eb, por ajo gjithashtu kishte k\u00ebto simptoma t\u00eb tjera t\u00eb pazakonta, duke p\u00ebrfshir\u00eb ethe, dhimbje koke dhe probleme n\u00eb nervin optik”, thot\u00eb hulumtuesi kryesor dhe gjenetisti klinik Robyn Jamieson nga Instituti i K\u00ebrkimeve Mjek\u00ebsore t\u00eb F\u00ebmij\u00ebve n\u00eb Australi.<\/p>\n
“Ne dyshuam se ishte nj\u00eb gjen i p\u00ebrfshir\u00eb p\u00ebr shkak t\u00eb tipareve t\u00eb pazakonta\u201d.<\/p>\n
Gjendja quhet Sindromi ROSAH, p\u00ebr shkak t\u00eb d\u00ebmtimit q\u00eb i b\u00ebn syve dhe organeve t\u00eb tjera.<\/p>\n
S\u00ebmundja shkakton retinopati (d\u00ebmtim n\u00eb retin\u00eb), edem\u00eb nervore optike (\u00ebnjtje), splenomegali (\u00ebnjtje e shpretk\u00ebs), anhidroz\u00eb (nj\u00eb paaft\u00ebsi p\u00ebr t\u00eb djersitur normalisht) dhe dhimbje koke prej mogren\u00ebs.<\/p>\n
Jamieson dhe ekipi i saj p\u00ebrdor\u00ebn sekuenc\u00ebn e gjenomit dhe ekzomave p\u00ebr t\u00eb p\u00ebrshkruar kodimin e ADN-s\u00eb s\u00eb familjes s\u00eb Bardh\u00eb dhe gjithashtu familjet e tjera q\u00eb p\u00ebrjetonin probleme t\u00eb ngjashme pavar\u00ebsisht n\u00ebse humbja e vizionit kishte filluar.<\/p>\n
Pas ekzaminimit t\u00eb testeve n\u00eb t\u00eb gjith\u00eb an\u00ebtar\u00ebt e famuljes, si dhe testeve t\u00eb minjve dhe indeve njer\u00ebzore n\u00eb laborator, ekipi zbuloi t\u00eb nj\u00ebjtin variant n\u00eb gjenin ALPK1.<\/p>\n
“D\u00ebgjohej sikur kishin t\u00eb nj\u00ebjtin kusht dhe ne gjet\u00ebm t\u00eb nj\u00ebjtin variant n\u00eb t\u00eb nj\u00ebjtin gjen”, thot\u00eb Jamieson.<\/p>\n
“Laboratori im b\u00ebri gjithashtu pun\u00ebn duke shikuar shprehjen e gjenit dhe rezultatet tona t\u00eb fundit sugjerojn\u00eb se ajo \u00ebsht\u00eb e p\u00ebrfshir\u00eb n\u00eb sinjalizimin e rrug\u00ebve t\u00eb qelizave, me nj\u00eb rol t\u00eb mundsh\u00ebm n\u00eb inflamacion”.<\/p>\n
Me shpretk\u00ebn dhe procesin e djersitjes t\u00eb prekur nga gjendja, sugjerimi \u00ebsht\u00eb se ALPK1 luan nj\u00eb rol n\u00eb disa organe n\u00eb trup.<\/p>\n
Ndryshimet n\u00eb shprehjen e gjenit kan\u00eb qen\u00eb m\u00eb par\u00eb t\u00eb lidhura me s\u00ebmundje t\u00eb veshkave.<\/p>\n
Tani detyra tjet\u00ebr e madhe \u00ebsht\u00eb duke punuar se si t\u00eb ndalet ROSAH. Nj\u00eb mund\u00ebsi \u00ebsht\u00eb se kjo anomali e ve\u00e7ant\u00eb n\u00eb gjen disi nd\u00ebrhyn me progresin e ciklit t\u00eb qelizave natyrore, m\u00ebnyr\u00ebn se qelizat kopjojn\u00eb dhe kalojn\u00eb n\u00eb kodimin e tyre t\u00eb ADN-s\u00eb.<\/p>\n
Gjetja e nj\u00eb trajtimi mund t\u00eb jet\u00eb ende nj\u00eb rrug\u00eb e gjat\u00eb, por identifikimi i shkakut rr\u00ebnj\u00ebsor t\u00eb gjendjes \u00ebsht\u00eb nj\u00eb hap i madh p\u00ebrpara sidomos p\u00ebr Beth White, i cili filloi t\u00eb humbiste vizionin e saj si adoleshente dhe nuk e dinte se pse.<\/p>\n
“T\u00eb jetosh me d\u00ebmtime shikimi, \u00e7do dit\u00eb \u00ebsht\u00eb pun\u00eb e v\u00ebshtir\u00eb dhe nuk dua t\u00eb nj\u00ebjt\u00ebn gj\u00eb p\u00ebr f\u00ebmij\u00ebt e mi”, thot\u00eb ajo.<\/p>\n
“\u00c7do prind d\u00ebshiron t’u jap\u00eb f\u00ebmij\u00ebve t\u00eb tyre \u00e7do mund\u00ebsi p\u00ebr nj\u00eb jet\u00eb m\u00eb t\u00eb mir\u00eb dhe nuk mund ta imagjinoj ndikimin. Edhe n\u00ebse mund ta stabilizojm\u00eb vizionin e tyre, n\u00ebse mund t\u00eb mbajn\u00eb at\u00eb q\u00eb kan\u00eb tani, do t\u00eb ishte nj\u00eb mrekulli”.<\/p>\n
“Shpresa \u00ebsht\u00eb gjith\u00e7ka”,\u00a0p\u00ebrmbylli ajo.<\/p>\n
<\/p>\n
<\/p>","protected":false},"excerpt":{"rendered":"
Mjek\u00ebt n\u00eb Australi kan\u00eb zbuluar nj\u00ebgjendje ultra-t\u00eb rrall\u00eb q\u00eb gradualisht e verbon nj\u00eb pjes\u00eb t\u00eb vog\u00ebl t\u00eb familjeve n\u00eb mbar\u00eb bot\u00ebn dhe tani ata po garojn\u00eb p\u00ebr t\u00eb gjetur nj\u00eb m\u00ebnyr\u00eb p\u00ebr ta trajtuar at\u00eb. Shenjat e gjendjes s\u00eb par\u00eb u zbuluan n\u00eb Australi, kur n\u00ebna Beth \u00cbhile vizitoi mjek\u00ebt pasi p\u00ebrjetoi probleme t\u00eb humbjes […]<\/p>\n","protected":false},"author":2013,"featured_media":55427,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[241,233],"tags":[],"class_list":{"0":"post-79121","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-aktualitet","8":"category-shendeti"},"_links":{"self":[{"href":"https:\/\/zjarr.tv\/en\/wp-json\/wp\/v2\/posts\/79121","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/zjarr.tv\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/zjarr.tv\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/zjarr.tv\/en\/wp-json\/wp\/v2\/users\/2013"}],"replies":[{"embeddable":true,"href":"https:\/\/zjarr.tv\/en\/wp-json\/wp\/v2\/comments?post=79121"}],"version-history":[{"count":0,"href":"https:\/\/zjarr.tv\/en\/wp-json\/wp\/v2\/posts\/79121\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/zjarr.tv\/en\/wp-json\/wp\/v2\/media\/55427"}],"wp:attachment":[{"href":"https:\/\/zjarr.tv\/en\/wp-json\/wp\/v2\/media?parent=79121"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/zjarr.tv\/en\/wp-json\/wp\/v2\/categories?post=79121"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/zjarr.tv\/en\/wp-json\/wp\/v2\/tags?post=79121"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}