Thaum koj tus menyuam yaus yug los, koj tus menyuam puas qaug zog heev, tsis muaj sia nyob, thiab nyuaj rau pub niam mis? Tab sis thaum nws loj hlob me ntsis, thaum muaj hnub nyoog ob lossis peb xyoos, nws puas pib qhia txog kev tshaib plab thiab tsis muaj kev tshaib plab? Tej zaum koj yuav txhawj xeeb thiab ntshai me ntsis nrog cov kev hloov pauv no. Niaj hnub no peb tab tom tham txog ib qho mob caj ces tsis tshua muaj uas qhia txog cov tsos mob no, uas ntau tus neeg hauv peb lub tebchaws tsis tau hnov txog, tab sis nws yog ib qho tseem ceeb heev uas yuav tsum paub txog. Ntawd yog Prader-Willi Syndrome.
Prader-Willi Syndrome (PWS) yog dab tsi?
Hais yooj yim xwb, Prader-Willi syndrome (PWS) yog ib yam mob caj ces uas tsis tshua muaj uas muaj txij thaum yug los. Nws cuam tshuam rau tus menyuam txoj kev zom zaub mov, cov txheej txheem uas cov khoom noj uas peb noj hloov mus ua lub zog. Nws kuj cuam tshuam rau tus menyuam txoj kev loj hlob thiab tus cwj pwm.
Ob theem tseem ceeb tuaj yeem pom hauv qhov xwm txheej no.
1. Thaum Yau Me Nyuam Yaus: Cov leeg ntawm tus menyuam tsis muaj sia nyob lossis cov leeg nqaij tsis muaj zog heev. Qhov no ua rau nws nyuaj heev rau haus mis. Tus menyuam yuav tsaug zog thiab qaug zog.
2. Thaum Yau Me Nyuam Yau: Nruab nrab ntawm hnub nyoog 2 thiab 6 xyoos, muaj tej yam txawv kiag li tshwm sim. Ntawd yog, tus me nyuam muaj kev ntshaw ntau dhau uas tswj tsis tau. Txawm nws noj ntau npaum li cas los xij, nws tsis xav tias nws puv npo. Yog tias kev noj ntau dhau no tsis raug tswj, tus me nyuam yuav rog dhau heev.
Ntxiv rau cov tsos mob tseem ceeb no, tus menyuam yuav plam lub sijhawm loj hlob uas tsim nyog rau hnub nyoog, xws li kev nkag, kev taug kev, thiab kev hais lus. Kev laus kuj tseem yuav qeeb. Yog tias tsis tswj hwm kom zoo, kev rog dhau tuaj yeem ua rau muaj teeb meem txaus ntshai xws li kab mob plawv, ntshav qab zib, thiab kev pw tsaug zog tsis taus pa.
Leej twg muaj tus mob no? Nws tshwm sim ntau npaum li cas?
Qhov no yog ib qho mob caj ces uas tuaj yeem cuam tshuam rau txhua tus neeg. Feem ntau nws yog tshwm sim los ntawm kev hloov pauv caj ces uas tshwm sim thaum niam thiab txiv cov noob caj ces tsim. Qhov no txhais tau tias nws tsis yog vim muaj qhov txhaum ntawm niam txiv. Tsis tshua muaj, yog tias ib tug neeg hauv tsev neeg tau muaj tus mob no, muaj feem me me uas nws yuav raug xa mus rau ntau tiam neeg.
Nws yog ib qho mob uas tshwm sim ntau heev uas kwv yees li ib ntawm 10,000 txog 30,000 tus neeg thoob ntiaj teb muaj feem cuam tshuam rau Prader-Willi syndrome. Qhov no txhais tau tias nws yog ib qho mob tsis tshua muaj.
Cov tsos mob ntawm Prader-Willi syndrome yog dab tsi?
Cov tsos mob no yuav txawv ntawm ib tus neeg mus rau ib tus neeg, tab sis muaj qee cov tsos mob uas pom ntau. Cia peb muab lawv faib ua pawg raws li txoj kev no kom meej dua.
| Hom cwj pwm | Tej yam uas pom ntau zaus |
|---|---|
| Cov yam ntxwv ntawm thaum yau (Menyuam yaus) |
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| Cov yam ntxwv ntsig txog lub cev | |
| Cov yam ntxwv ntawm tus cwj pwm thiab kev loj hlob |
Qhov tseem ceeb tshaj plaws uas yuav tsum nco ntsoov ntawm no yog tias kev rog dhau, uas yog tshwm sim los ntawm '(Hyperphagia)', tuaj yeem ua rau muaj ntau yam kab mob loj xws li ntshav qab zib thiab kab mob plawv.
Vim li cas ho muaj tus mob no? Dab tsi yog qhov ua rau muaj tus mob no?
Qhov no nyuaj me ntsis, tab sis cia peb sim nkag siab yooj yim.
Txhua lub hlwb ntawm peb muaj ib pob ntawm cov ntaub ntawv txog noob caj noob ces. Peb hu cov chromosomes no ua "chromosomes". Peb tau txais 23 ntawm cov chromosomes no los ntawm peb niam thiab 23 los ntawm peb txiv. Prader-Willi syndrome yog tshwm sim los ntawm teeb meem nrog rau ib feem ntawm chromosome 15 uas peb tau txais los ntawm peb txiv.
Muaj ib yam tshwj xeeb tshwm sim ntawm no. Nws hu ua '(genomic imprinting)'. Hais yooj yim xwb, hauv qee cov noob caj noob ces ntawm chromosome 15, daim ntawv theej los ntawm leej txiv raug qhib 'rau', thiab daim ntawv theej los ntawm leej niam raug qhib 'rau'. Qhov 'rau' no, uas yog, daim ntawv theej nquag los ntawm leej txiv yog qhov tseem ceeb rau lub cev kom ua haujlwm tau zoo . Hauv PWS, daim ntawv theej nquag los ntawm leej txiv no poob nws txoj haujlwm.
Muaj peb qho laj thawj tseem ceeb rau qhov no.
| Qhov ua rau muaj noob caj noob ces | Piav qhia yooj yim xwb |
|---|---|
| Kev rho tawm Chromosome | Qhov no yog qhov ua rau 70% ntawm cov neeg mob PWS. Hauv qhov no, ib feem me me ntawm chromosome 15, uas tau txais los ntawm leej txiv, raug tshem tawm. Yog li ntawd, cov noob caj noob ces tsim nyog tsis ua haujlwm. |
| Kev tsis sib haum xeeb ntawm niam txiv ib leeg | Qhov no yog qhov ua rau muaj li ntawm 25% ntawm cov neeg mob PWS. Qhov tshwm sim yog tias tus menyuam tsis tau txais chromosome 15 los ntawm leej txiv, tab sis tau txais ob daim qauv ntawm chromosome 15 los ntawm leej niam. Vim tias cov noob caj noob ces hauv ob daim qauv los ntawm leej niam 'tawm', tsis muaj ib qho noob caj noob ces uas tseem ua haujlwm ploj mus. |
| Kev hloov chaw | Qhov no tsis tshua muaj (tsawg dua 1%). Hauv qhov no, ib feem ntawm chromosome 15 tawg thiab txuas rau lwm chromosome. Yog li ntawd, cov noob caj noob ces ntawd tsis tuaj yeem ua haujlwm tau zoo. |
Tus kws kho mob kuaj mob li cas?
Thaum koj mus ntsib kws kho mob vim koj txhawj txog koj tus menyuam cov tsos mob, thawj qhov uas nws yuav ua yog kuaj koj tus menyuam lub cev kom zoo. Nws yuav ua tib zoo saib koj tus menyuam qhov tsos, cov leeg nqaij, thiab tus cwj pwm. Nws kuj tseem yuav nug koj txog koj tus menyuam txoj kev noj mov thiab kev loj hlob qeeb.
Yog tias tus kws kho mob xav tias muaj PWS vim yog cov tsos mob no, nws yuav kom kuaj noob caj noob ces kom paub tseeb.Qhov no feem ntau ua los ntawm kev coj cov ntshav los ntawm tus menyuam thiab txheeb xyuas cov kev hloov pauv hauv DNA hauv nws .
Yuav kho li cas? Puas kho tsis tau tag nrho?
Qhov tseeb, tseem tsis tau muaj tshuaj kho tau tus mob Prader-Willi syndrome no. Tab sis tsis txhob txhawj. Muaj ntau txoj kev kho mob uas tuaj yeem pab tswj cov tsos mob, tiv thaiv cov teeb meem, thiab pab koj tus menyuam kom muaj lub neej zoo. Lub hom phiaj tseem ceeb ntawm kev kho mob yog:
- Kev tswj hwm kev noj haus: Cov khoom siv tshwj xeeb xws li lub raj mis tuaj yeem siv los pab koj tus menyuam haus mis thaum nws tseem yog menyuam yaus. Thaum koj tus menyuam loj hlob tuaj, nws yog ib qho tseem ceeb kom muab cov khoom noj uas tsis muaj calorie ntau, sib npaug thiab tswj hwm cov khoom noj uas lawv noj. Qee zaum, nws yuav tsim nyog xauv cov khoom xws li lub txee thiab lub tub yees hauv tsev.
- Kev Kho Mob Hormone: Kev siv tshuaj hormones los pab kom tus menyuam loj hlob. Thaum lub sijhawm lawv tseem hluas, tej zaum cov tub hluas yuav xav tau testosterone thiab cov ntxhais yuav xav tau estrogen.
- Kev Kho Mob Txhawb Nqa:
- Kev Kho Mob Lub Cev: Pab txhawb cov leeg nqaij thiab txhim kho kev sib npaug.
- Kev Kho Mob Hais Lus: Pab kov yeej teeb meem hais lus.
- Kev kawm tshwj xeeb: Muab kev txhawb nqa rau cov dej num kawm uas tsim los rau tus menyuam lub peev xwm txawj ntse.
Yog tias kuv tus menyuam muaj PWS, yav tom ntej yuav zoo li cas?
Nws yog ib qho ib txwm rau cov niam txiv yuav xav tsis thoob thiab ntshai thaum lawv paub txog qhov mob no. Tab sis nco ntsoov tias, yog tias kuaj pom thaum ntxov thiab kho thiab txhawb nqa tas mus li, cov menyuam uas muaj PWS tuaj yeem ua neej nyob li qub.
Yog, muaj tej yam nyuaj. Lawv yuav xav tau kev pab ntxiv nrog kev ua haujlwm hauv tsev kawm ntawv. Lawv yuav xav tau kev txhawb nqa thoob plaws hauv lawv lub neej. Tab sis lawv kuj tseem tuaj yeem tau txais kev pab kom lawv muaj kev ywj pheej li sai tau thiab siv lawv lub peev xwm kom zoo tshaj plaws.
Nws yog ib qho tseem ceeb uas yuav tsum tau ntsib nrog tus kws noj zaub mov kom tsim tau ib daim phiaj xwm noj mov uas haum rau koj tus menyuam, thiab nrhiav kev qhia los ntawm tus kws pab tswv yim txog kev noj qab haus huv ntawm lub hlwb . Tsis tas li ntawd, kev koom nrog cov pab pawg txhawb nqa nrog lwm cov niam txiv uas muaj kev paub zoo ib yam li koj li yuav yog ib qho chaw zoo rau lub zog.
Koj yuav tsum nug tus kws kho mob li cas?
Thaum koj mus ntsib kws kho mob, tsis txhob hnov qab nug cov lus nug no.
- Kuv yuav tsum ua li cas thiaj li tiv thaiv tau kuv tus menyuam kom tsis txhob rog dhau?
- Tus me nyuam xav tau kev kho mob dab tsi? Lawv muab kev kho mob li cas?
- Kuv yuav xav tau teeb meem dab tsi ntawm kuv tus menyuam?
- Puas muaj cov pab pawg txhawb nqa uas peb tuaj yeem ncav tes mus pab rau kev nyob nrog tus mob no?
- Puas yog lwm tus neeg hauv kuv tsev neeg yuav tsum tau kuaj noob caj noob ces?
Nws yog ib qho ib txwm muaj uas koj yuav xav tias ntxhov siab thaum koj paub tias koj tus menyuam muaj ib yam kab mob uas tsis tshua muaj thiab kho tsis tau. Tab sis koj tsis yog tib leeg xwb. Pab neeg kho mob ntawm koj tus menyuam yuav muab kev txhawb nqa thiab kev taw qhia uas koj xav tau. Koj tus menyuam yuav xav tau sijhawm thiab kev pab ntau dua li lwm tus menyuam. Tab sis nrog kev tswj hwm zoo, koj tus menyuam kuj tuaj yeem zoo siab thiab.
Cov Lus Qhia Txog Kev Coj Mus Tsev
- Prader-Willi syndrome (PWS) yog ib yam mob uas tshwm sim los ntawm noob caj noob ces thiab tsis yog los ntawm qhov txhaum ntawm niam txiv.
- Cov tsos mob thaum ntxov muaj xws li cov leeg nqaij tsis muaj zog thiab nyuaj rau pub niam mis. Tom qab ntawd, kev tshaib plab tsis tuaj yeem tswj tau.
- Qhov teeb meem loj tshaj plaws uas ntsib hauv qhov xwm txheej no yog kev tswj hwm kev noj zaub mov thiab tiv thaiv kev rog dhau thiab nws cov teeb meem cuam tshuam.
- Txawm hais tias tsis muaj kev kho kom zoo rau qhov no los xij, kev tswj hwm, kev kho mob, thiab kev txhawb nqa kom zoo thoob plaws lub neej tuaj yeem pab tus menyuam kom muaj lub neej puv npo.
- Yog koj muaj kev txhawj xeeb txog koj tus menyuam txoj kev loj hlob lossis tus cwj pwm, nrog koj tus kws kho mob tham tam sim ntawd. Kev kuaj pom thaum ntxov yog qhov tseem ceeb rau kev kho mob kom zoo.
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Tsis muaj lus teb tau muab tso tawm. Ntxiv koj cov lus tawm ntawm no thawj zaug.
Ntxiv koj cov lus