Cov txheej txheem:
- YPuas yog nemaline myopathy yog ib hom mob nqaij tawv nqaij?
- Kev kwv yees rau tus neeg muaj nemaline myopathy yog dab tsi?
- Dab tsi ua rau nemaline myopathy?
- Cov xwm txheej twg cuam tshuam txog kev hloov pauv hauv ACTA1 noob?
Video: Puas yog nemaline myopathy recessive lossis tseem ceeb?
2024 Tus sau: Fiona Howard | [email protected]. Kawg hloov kho: 2024-01-10 06:38
Nemaline myopathy feem ntau yog los ntawm tus qauv autosomal recessive qauv, uas txhais tau hais tias ob daim ntawv theej ntawm cov noob hauv txhua lub cell muaj kev hloov pauv. Cov niam txiv ntawm ib tus neeg uas muaj tus mob autosomal recessive txhua tus nqa ib daim qauv ntawm cov noob hloov pauv, tab sis lawv feem ntau tsis pom cov tsos mob thiab cov tsos mob ntawm tus mob.
YPuas yog nemaline myopathy yog ib hom mob nqaij tawv nqaij?
NM ua rau lub neej luv luv, tshwj xeeb tshaj yog nyob rau hauv cov ntaub ntawv hnyav dua, tab sis kev saib xyuas nruj thiab ua haujlwm pub rau tib neeg feem ntau kom muaj sia nyob thiab ua rau lub neej nquag. Nemaline myopathy yog ib qho ntawm cov kab mob neuromuscular them los ntawm Lub Koom Haum Muscular Dystrophy hauv Tebchaws Meskas.
Kev kwv yees rau tus neeg muaj nemaline myopathy yog dab tsi?
Cov neeg mob feem ntau muaj peev xwm ua neej nyob ywj pheej, ua haujlwm zoo. Congenital NM mob hnyav (10-20% ntawm cov neeg mob; saib cov lus no) yog tus cwj pwm los ntawm hypotonia hnyav thiab me ntsis spontaneous txav. Kev ciaj sia tom qab me nyuam mos yog tsawg.
Dab tsi ua rau nemaline myopathy?
Tus kab mob no yog tshwm sim los ntawm ntau yam kab mob tsis xws luag, txhua tus cuam tshuam rau ib qho ntawm cov proteins uas xav tau rau cov leeg nqaij thiab kev cog lus. Nws tuaj yeem tau txais qub txeeg qub teg hauv autosomal recessive lossis autosomal dominant qauv, txhais tau tias nws tuaj yeem tsim los ntawm cov noob tsis zoo los ntawm ib tus lossis ob tus niam txiv.
Cov xwm txheej twg cuam tshuam txog kev hloov pauv hauv ACTA1 noob?
Nemaline myopathy yog cov leeg mob uas muaj feem cuam tshuam nrog ACTA1 noob hloov pauv. Qee qhov kev hloov pauv uas ua rau qhov teeb meem no hloov cov qauv lossis kev ua haujlwm ntawm lub cev pob txha α-actin, ua rau cov protein ua ke ua ke thiab tsim cov pawg (aggregates).
Pom zoo:
Puas yog alanine tseem ceeb lossis tsis tseem ceeb?
No tseem ceeb amino acids suav nrog: alanine, arginine, asparagine, aspartic acid, cysteine, glutamic acid, glutamine, glycine, proline, serine, thiab tyrosine. Cov tshuaj amino acids feem ntau tsis tseem ceeb, tshwj tsis yog thaum muaj mob thiab kev ntxhov siab .
Nemaline myopathy tshwm sim qhov twg?
Cov neeg uas muaj nemaline myopathy muaj cov leeg tsis muaj zog (myopathy) thoob plaws hauv lub cev, tab sis nws feem ntau hnyav heev hauv cov leeg ntawm lub ntsej muag; caj; cev; thiab lwm cov leeg nyob ze rau qhov nruab nrab ntawm lub cev (cov leeg sib thooj), xws li cov caj npab thiab txhais ceg .
Dab tsi yog qhov tseem ceeb thiab tsis tseem ceeb?
Qhov me dua p-tus nqi, qhov muaj zog pov thawj uas koj yuav tsum tsis lees paub qhov kev xav tsis tseeb. Ib qho p-tus nqi tsawg dua 0.05 (feem ntau ≤ 0.05) yog qhov tseem ceeb. … A p-tus nqi siab dua 0.05 (> 0.05) tsis yogqhov tseem ceeb thiab qhia cov pov thawj muaj zog rau qhov kev xav tsis zoo .
Puas yog qhov tseem ceeb tseem ceeb cuam tshuam?
Qhov tseem ceeb tseem ceeb tshaj plaws (aka core prime implicants) yog prime implicants uas npog cov txiaj ntsig ntawm kev ua haujlwm uas tsis muaj kev sib xyaw ua ke ntawm lwm cov kev cuam tshuam tseem ceeb tuaj yeem npog Cov txiaj ntsig ntawm txhua qhov tseem ceeb Qhov cuam tshuam ntawm Boolean muaj nuj nqi yog hu ua nws cov nyiaj ua tiav, qhov tsawg kawg nkaus npog, lossis Blake canonical daim ntawv .
Puas yog hypophosphatemic recessive lossis tseem ceeb?
Hypophosphatemic rickets feem ntau tau txais los ntawm X-txuas tseem ceeb yam. Qhov no txhais tau hais tias cov noob muaj lub luag haujlwm rau tus mob yog nyob ntawm X chromosome, thiab tsuas muaj ib qho kev hloov pauv ntawm cov noob yog txaus los ua tus mob .
