2024 Tus sau: Elizabeth Oswald | [email protected]. Kawg hloov kho: 2024-01-13 00:07
Jacobsen Syndrome (JS) yog ib qho kev sib txuas ntawm cov noob caj ces tshwm sim los ntawm kev tshem tawm ib nrab ntawm caj npab ntev ntawm chromosome 11. Tus mob tau piav qhia thawj zaug los ntawm Jacobsen hauv 1973 hauv tsev neeg nrog ntau tus tswv cuab uas tau txais qhov tsis sib npaug 11; 21 qhov kev hloov pauv tau muab los ntawm cov niam txiv sib npaug sib npaug ntawm tus neeg nqa khoom [1].
Puas muaj pes tsawg tus neeg hauv Asmeskas muaj tus mob Jacobsen?
Thaum qhov muaj ntau ntawm Jacobsen syndrome tsis paub, qhov kev yug me nyuam tau pom zoo ntawm 1/50, 000-100, 000 hauv Tebchaws Meskas, nrog rau poj niam / txiv neej piv ntawm 2:1.
Leej twg yog tus mob Jacobsen muaj npe tom qab?
Tus mob no tau pom thawj zaug los ntawm Danish geneticist Petrea Jacobsen xyoo 1973 thiab tau muab npe rau nws. Nws nrhiav pom Jacobsen syndrome nyob rau hauv ib tsev neeg uas muaj ntau tus neeg mob.
Puas Jacobsen syndrome kho tau?
Tsis muaj kev kho rau Jacobsen syndrome; Kev kho mob feem ntau tsom rau cov cim tshwj xeeb thiab cov tsos mob tshwm sim hauv txhua tus neeg. Kev kho mob yuav xav tau kev sib koom tes ntawm pab pawg ntawm ntau tus kws tshaj lij. Cov tib neeg uas tsis tshua muaj platelet suav (thrombocytopenia) yuav tsum tau saib xyuas tsis tu ncua.
Thaum twg Jacobsen syndrome kuaj tau?
Cov chromosome tawg thiab cov noob uas tau muab tshem tawm yuav pom. Jacobsen syndrome tuaj yeem kuaj tau kuaj mob thaum cev xeeb tub. Yog hais tias ib qho ultrasound chij ib yam dab tsi txawv txav, kev kuaj ntxiv tuaj yeemua tiav. Cov ntshav tuaj yeem coj los ntawm leej niam thiab tshuaj xyuas.
Pom zoo:
Thaum twg dystrophic epidermolysis bullosa nrhiav tau?
Epidermolysis bullosa tau pom thawj zaug hauv lig 1800s. Nws yog ib tug tswv cuab ntawm tsev neeg ntawm cov kab mob hu ua blistering disease. Puas yog dystrophic epidermolysis bullosa ib yam kab mob tsawg? Epidermolysis bullosa acquisita (ib daim ntawv tau txais ntawm EB) yog ib yam tsis tshua muaj autoimmune tsis meej thiab tsis tau txais txiaj ntsig.
Thaum twg nrhiav tau dysarthria?
Early in 1969 , Darley et al. txhais tau tias dysarthria yog ib lo lus sib sau ua ke rau kev hais lus tsis zoo. Kev faib tawm ntawm dysarthria suav nrog flaccid dysarthria, spastic dysarthria, ataxic dysarthria, hypokinetic dysarthria, hyperkinetic hyperkinetic Hyperkinesia yog ib lub xeev ntawm kev ntxhov siab ntau dhauuas muaj ntau yam kab mob uas cuam tshuam rau lub peev xwm.
Leej twg nrhiav tau korsakoff syndrome?
Korsakoff syndrome muaj npe tom qab Sergei Korsakoff, tus kws kho mob hlwb Lavxias uas tau piav qhia nws thaum xyoo pua 19th. Korsakoff's syndrome yog dab tsi thiab nws tshwm sim li cas? Korsakoff's Syndrome yog ib qho teeb meem uas feem ntau cuam tshuam rau lub cim xeeb hauv lub hlwb.
Thaum twg tau txais kev pom zoo nrhiav tau?
In 2009, peb tus tsim thiab CEO Steve Marshall tau txheeb xyuas lub sijhawm hauv kev lag luam pov hwm lub neej thiab Reassured tau tsim. Peb pab tsev neeg tiv thaiv qhov tseem ceeb tshaj plaws rau lawv; Peb Lub Hom Phiaj rau 2020 yog los tiv thaiv ntau dua 200,000 tsev neeg hauv tebchaws Askiv.
Puas nrhiav tau lossis nrhiav tau?
Yog li, koj yuav tsum tau siv "could find". Lub modal verb, tau yog twb nyob rau hauv nws paste-form: ua. Yog li koj tsis tas yuav hloov pauv los nrhiav. Yuav nrhiav tau lossis nrhiav tau? "Ntaus" yog sib npaug. "
