Zaum hais tias muaj tsawg kawg yog 79 "syndromes" ntawm rog

Thaum nws los txog rau rog, nws yog ntau npaum li cas nyuab tshaj no mas, thaum xub thawj siab ib muag. Ib tug tshiab kev ntsuam xyuas ntawm kev tshawb fawb nyob rau hauv Canada qhia tau hais tias rog muaj tsawg kawg yog 79 ntau yam ntaub ntawv uas txuam nrog rau cov noob ntawm cov neeg, thiab ntau yam ntawm lawv yog tsis tshua muaj heev.

Kev pham tshwm sim los ntawm tsis ua hauj lwm nyob rau hauv lub noob

Txawm tias txoj kev ua neej yam tseem ceeb xws li kev noj haus thiab kev qoj ib ce ua si ib qho tseem ceeb luag hauj lwm nyob rau hauv cov rog, cov kev tshawb fawb tau qhia tias muaj tseem yog ib caj tivthaiv rau nws. Yog li ntawd, nyob rau hauv lub tshiab kev ntsuam xyuas, kev soj ntsuam ntawm kws tsom rua lub hom rog, uas muaj peev xwm muab tau los ntawm noob. Lawv saib ntau tshaj 160 kev tshawb fawb nyob rau hauv kev tshuaj ntsuam genetic ntaub ntawv ntawm cov rog. Previous kev tshawb fawb pom tau hais tias muaj 20 mus rau 30 ntau hom kev rog - tus sau phau ntawv sau.

Tab sis nyob rau hauv lub tshiab kev ntsuam xyuas, kev soj ntsuam tau pom ib tug tag nrho ntawm 79 caj "syndromes" ntawm cov rog. Nyob rau hauv syndrome hais txog tej yam kev mob uas yog lub txiaj ntsim ntawm kev tshuaj ntsuam genetic hloov thiab ua rau tib neeg rog, cov lwm yam kev mob. Piv txwv li, ib tug xws li "syndromes" ntawm rog, uas yog ntev paub, yog ib tug kev tshuaj ntsuam genetic mob hu ua Prader-Willi syndrome. Raws li ib tug daim ntawv ntsuam xyuas, cov neeg uas no syndrome zaum yuav tshwm sim rog, kev loj hlob qeeb, kev loj hlob hormone tsis muaj peev xwm, ntau kev tshaib kev nqhis, thiab lawv yuav tau txoj kev yuav txo tej khoom noj khoom haus kom tsawg.

Raws li rau lwm daim ntawv ntsuam xyuas, lub hlwb xiam oob qhab, kev txawv txav ntawm lub ntsej muag thiab lwm yam kev mob tej zaum yuav muaj feem xyuam rau lwm syndromes.

Lub daim ntawv ntsuam xyuas hais tias 43 ntawm lub 79 syndromes tsis tau txais lub npe. Nyob rau hauv tas li ntawd, zaum tau kiag li txiav txim siab yooj yim noob caj noob ces tsuas 19 syndromes. Yog li, lawv qhia txog ib tug ib nrab totaub txog cov noob caj noob ces, raws li ib daim ntawv ntsuam. Txawm li cas los, soj ntsuam ntawm pom 22 syndrome, uas zaum yav tas los paub tsis muaj dab tsi.

"Ib tug zoo dua kev nkag siab ntawm lub caj ntawm cov syndromes yuav tsis tau tsuas yog txhim kho lub neej ntawm cov neeg cuam tshuam los ntawm cov noob, tab sis kuj pab kom peb to taub zoo dua lub noob thiab molecules uas yog ib qho tseem ceeb rau cov rog," - hais tias lub senior sau ntawm txoj kev ntsuam xyuas Devid Meyr, associate xib fwb ntawm kev noj qab nyob kev tshawb fawb txoj kev ntawm McMaster University nyob rau hauv Ontario, hais tias nyob rau hauv ib daim ntawv qhia.

Cov qhabnias ntawm kev tshawb fawb nyob rau hauv cov menyuam ntxaib

Kev tshawb fawb ua rau tib menyuam ntxaib tau qhia tias rog nyob rau hauv lub 40-75 feem pua nyob rau hauv ib lub caj ces mob - tus neeg tshawb fawb qhia nyob rau hauv lub daim ntawv ntsuam xyuas, luam tawm nyob rau Lub peb hlis ntuj 27 nyob rau hauv cov phau ntawv journal rog xyuas. Nws soj ntsuam tau teem rau lub hom rog uas yog txuam nrog ib tug hluas noob thiab ua syndromes (syndromes, los ntawm txhais, xws li ib tug txheej ntawm cov tsos mob).

Cov soj ntsuam ntawm muab sau hais tias ob tug lwm pab pawg ntawm cov kev tshuaj ntsuam genetic rog ntshawv siab twb tsis muaj nyob rau hauv lub daim ntawv ntsuam xyuas: hom rog uas yog txuam nrog rau ntau yam noob, thiab cov neeg txuam nrog ib tug tib noob, tab sis tsis qhov ua rau ntawm syndromes.

loj heev

Cov kev tshawb fawb kuj hais rau hauv lub qhov teeb meem ntawm ntau npaum li cas yog cov ntaub ntawv ntawm cov rog, tab sis tus kwv tau tsuas muaj nyob rau 12 ntawm lawv. Tseeb, cov syndromes yog tsis tshua muaj, lawv loj heev yog tsawg tshaj li ntawm 1 ib 1 lab tus tib neeg. Ib tug mob, piv txwv li, hu ua syndrome Ahlström, twb pom nyob rau hauv kwv yees li ib tug neeg tawm ntawm 900, raws li lub teb chaws cov tsev qiv ntawv ntawm cov tshuaj.

Tus sau phau ntawv sau tseg: lawv cia siab hais tias lawv ua hauj lwm yuav txhim khu cov efficiency ntawm kev tshawb fawb nyob rau hauv txhob kaw txiav txim rog syndromes.