Natiijooyin cusub oo Talyaani ah oo ka dhan ah Hurler syndrome
Cilmi-baaris caafimaad oo cusub oo muhiim ah si loola dagaallamo Hurler syndrome
Waa maxay Hurler syndrome
Mid ka mid ah cudurrada naadirka ah ee ku dhici kara carruurta waa Cudurka Hurler, farsamo ahaan loo yaqaan "mucopolysaccharidosis nooca 1H“. Cudurkan naadirka ah wuu saameeyaa 1kiiba 100,000 cunug dhalasho cusub. Waxay ku lug leedahay la'aanta enzyme gaar ah oo mas'uul ka ah hoos u dhigista sonkorta gaarka ah, glycosaminoglycans. Isku-ururinta sonkortaas waxay sababtaa dhaawaca unugga, taasoo wax u dhimaysa korriinka iyo korriinka garashada nafsiga ee carruurta.
Nasiib darro, natiijadu waa mid xun, dhimashaduna waxay dhici kartaa goor hore markay qaan-gaadhaan, gaar ahaan dhibaatooyinka wadnaha iyo neefsiga.
Muuqaal caafimaad oo cusub
Horeba 2021, cilmi-baaris laga sameeyay San Raffaele Telethon Institute for Gene Therapy waxay muujiyeen natiijooyin rajo leh. Dhaqankani wuxuu ku lug leeyahay bixinta nooca saxda ah ee macluumaadka hidaha ee lagama maarmaanka u ah in la soo saaro enzyme maqan.
Gaar ahaan daawaynta ayaa ku jirta isticmaalka, habka wax looga beddelayo unugyada tarma ee bukaanka, some vectors oo ka soo jeeda HIV, fayraska ka mas'uulka ah AIDS-ka. Waa in la ogaadaa in sii kordheysa, qaybo yar oo ka mid ah isku xigxiga asalka ah loo isticmaalo goobta daaweynta hidda-wadaha ee cudurrada dhifka ah.
Daraasad cusub oo lagu daabacay joornaalka JCI Insight, oo ay sameeyeen cilmi-baarayaal caalami ah oo ay hogaaminayaan Jaamacadda Sapienza ee Rome iyo Tettamanti Foundation of Monza, oo ay ku darsadeen Irccs San Gerardo dei Tintori Foundation ee Monza iyo Jaamacadda Milano-Bicocca, ayaa oggolaaday abuurista shaybaarka organoid ee lafaha, Nooc la fududeeyay oo saddex-cabbir ah oo unug ah oo ka samaysan lafaha iyo carjawda jidhka bini'aadamka.
Tani waxay daadin doontaa Iftiin cusub oo ku saabsan Hurler syndrome.
Waxaa wareystay Ansa, Dhakhaatiir Serafini iyo Riminucci, la-qorayaasha daraasaddan oo ay la sameeyeen Samantha Donsante oo ka tirsan Sapienza iyo Alice Pievani oo ka tirsan Tettamanti Foundation oo ah saxiixayaasha hormuudka ah, ayaa sheegay in abuurista organoid aysan furi doonin oo kaliya. Albaabada cusub ee wax looga qabanayo Hurler syndrome laakiin sidoo kale qoto dheer oo cilmi baarista ku wajahan daaweynta cudurrada kale ee halista ah ee hidde-sideyaasha.
Ilaha