Video: Dab tsi ua rau Cockayne syndrome?
2024 Tus sau: Michael Samuels | [email protected]. Kawg hloov kho: 2023-12-16 01:44
Cockayne syndrome kev kho mob yog ua los ntawm kev hloov pauv hauv ERCC8 (CSA) lossis ERCC6 (CSB) noob. Inheritance yog autosomal recessive. Hom 2 yog cov neeg hnyav tshaj plaws thiab cuam tshuam feem ntau tsis muaj sia nyob yav dhau los. Cov uas muaj hom 3 nyob rau nruab nrab neeg laus.
Zoo ib yam tuaj yeem nug, qhov kev cia siab rau Cockayne syndrome yog dab tsi?
Kev cia siab rau lub neej rau hom 1 yog kwv yees li 10 txog 20 xyoo. Cockayne Syndrome Cov hom 2 (hom B), tseem hu ua "cerebro-oculo-facio-skeletal (COFS) tus mob "(lossis" Pena-Shokeir tus mob hom II "), yog yam mob hnyav tshaj plaws. Qhov nruab nrab lub neej rau cov menyuam uas muaj hom 2 mus txog 7 xyoo hnub nyoog.
Ib sab saum toj no, puas yog Cockayne syndrome tuag? Cockayne Syndrome Cov (CS), tseem hu ua Neill-Dingwall tus mob , yog tsawg thiab tuag autosomal recessive neurodegenerative tsis meej pem yam ntxwv ntawm kev loj hlob tsis tiav, kev txhim kho tsis zoo ntawm lub paj hlwb, kev hloov pauv tsis raug rau lub hnub ci (duab hluav taws xob), qhov muag tsis pom kev thiab hnub nyoog ntxov.
Ib yam li ntawd, koj tuaj yeem nug, cov tsos mob ntawm Cockayne syndrome yog dab tsi?
Cov yam ntxwv tseem ceeb ntawm Cockayne Syndrome suav nrog qhov ua tsis tiav ntawm kev loj hlob ib txwm muaj (dwarfism) thaum lub sijhawm tseem me nyuam mos, qhov ua rau pom lub teeb ci (duab ci), thiab pom hnub nyoog ntxov ua ntej (progeroid).
Muaj ntau npaum li cas yog Werner syndrome?
Cov tsos mob Werner xam tau tias yog heev tsawg . Nws tau kwv yees tias 1 ntawm 200, 000 tus neeg hauv Asmeskas tuaj yeem muaj Cov tsos mob Werner . Cov tsos mob Werner yog me ntsis ntxiv ntau hauv Nyij Pooj thiab Sardinia hauv tebchaws Ltalis, qhov uas nws kwv yees tias 1 hauv 30, 000 tus neeg yuav muaj tus mob no.
Pom zoo:
Dab tsi tuaj yeem ua rau xiav ntiv taw syndrome?
Yog tias qhov ua rau yog atherosclerotic emboli, kev kho mob tuaj yeem yog kev kho mob lossis phais. Kev kho mob suav nrog tus neeg sawv cev antiplatelet lossis anticoagulant. Statins tau qhia rau cov neeg mob uas muaj cov quav hniav aortic. Kev phais kom tshem tawm qhov chaw ntawm embolization (piv txwv li, aortic endarterectomy) feem ntau yog txheej txheem muaj kev pheej hmoo siab
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Dab tsi yog lub hauv paus ntawm lub cev rau amenorrhoea tom qab xeeb menyuam thiab lwm yam dab tsi uas tuaj yeem ua rau amenorrhoea?
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Dab tsi yog qhov txiaj ntsig ib txwm rau PaO 2 Dab tsi yog qhov txiaj ntsig rau kev txiav txim siab qhov hnyav ntawm hypoxemia?
Zoo li feem ntau qhov kev kho mob ib txwm muaj txiaj ntsig thiab ntau yam, lub ntsiab lus tuaj yeem sib txawv me ntsis, tab sis feem ntau cov ntsiab lus hauv qab no siv: Ua rau me me hypoxemia: PaO2 = 60 txog 79 mmHg. Qhov nruab nrab hypoxemia: PaO2 = 40 txog 59 mmHg. Hypoxemia hnyav: PaO2 <40 mmHg
Dab tsi ua rau tub ceev xwm saib xyuas tshuaj rau dab tsi?
Qhov feem ntau raug zam txim thiab raug tshuaj ntsuam xyuas thiab ntsuas cawv yog: 5-panel panel drugurine test, uas txheeb xyuas cov zis zis rau cov yeeb tshuaj xas, cocaine, PCP, amphetamines, thiab opiates. Ntau qhov kev sim tshuaj ntsuam xyuas kev sim tshuaj kuj tseem ntxiv cawv rau 5-paneltest