Koj puas paub txog PURA syndrome? Paub tej no rau yav tom ntej ntawm koj tus menyuam!

Koj puas muaj ib zaug twg koj tsis ntseeg lossis ntshai txog koj tus menyuam txoj kev loj hlob? Qee zaum cov menyuam mos kawm tej yam qeeb me ntsis, lossis muaj teeb meem kev noj qab haus huv tshwm sim. Thaum lub sijhawm zoo li no, nws tseem ceeb heev uas yuav tsum paub txog ib qho mob tsis tshua muaj hu ua PURA syndrome. Yog tias qhov no zoo li loj me ntsis, tsis txhob ntshai. Cia peb tham txog nws yooj yim.

PURA syndrome yog dab tsi?

Hais yooj yim xwb, PURA syndrome yog ib yam mob caj ces uas tsis tshua muaj . Nws feem ntau cuam tshuam rau peb lub paj hlwb . Yog li ntawd, lub hlwb thiab cov hlab ntsha raug cuam tshuam ntau tshaj plaws. Vim li no, kev loj hlob ntawm tus menyuam tuaj yeem qeeb los ntawm nruab nrab mus rau hnyav . Nws kuj tseem tuaj yeem ua rau muaj kev tsis taus hauv kev kawm. Feem ntau, cov menyuam uas muaj PURA syndrome yuav muaj teeb meem taug kev, qaug dab peg lossis qaug dab peg, thiab lwm yam teeb meem kev noj qab haus huv.

Cov kws tshawb nrhiav ntseeg tias qhov no yog tshwm sim los ntawm kev hloov pauv, lossis kev hloov pauv, hauv cov noob caj noob ces uas koom nrog kev loj hlob ntawm lub hlwb thiab cov hlab ntsha (cov hlab ntsha / cov neurons). Cov menyuam mos uas yug los nrog tus mob no yuav muaj teeb meem noj mov thiab ua pa thaum ntxov. Txawm li cas los xij, cov no qee zaum zoo dua tom qab ib ntus. Txawm li cas los xij, ntau tus menyuam yuav tsis tuaj yeem tham lossis taug kev ntawm lawv tus kheej thaum lawv loj hlob.

Tam sim no tsis muaj kev kho rau PURA syndrome. Txawm li cas los xij, kev kho mob kom zoo tuaj yeem pab koj thiab koj tus menyuam tswj cov tsos mob thiab txo cov teeb meem. Yog li ntawd , nws yog ib qho tseem ceeb heev uas yuav tsum paub txog tus mob no thaum ntxov .

Leej twg thiaj li muaj tau tus mob PURA syndrome?

PURA syndrome yog ib yam mob uas muaj txij thaum yug los . Qhov no txhais tau hais tias tus mob no tuaj yeem muaj thaum yug los. Nws cuam tshuam rau lub paj hlwb. Qee zaum, tus mob no tuaj yeem kis tau los ntawm niam txiv mus rau cov menyuam los ntawm cov noob caj noob ces. Txawm li cas los xij, nws yog ib qho tseem ceeb uas yuav tsum nco ntsoov tias tus menyuam tuaj yeem muaj PURA syndrome txawm tias tsis muaj leej twg hauv tsev neeg tau muaj tus mob no ua ntej . Qhov no txhais tau hais tias tej zaum yuav muaj kev hloov pauv noob caj noob ces tshiab.

Muaj lwm yam mob dab tsi zoo sib xws li qhov no?

Cov tsos mob ntawm PURA syndrome zoo ib yam li lwm yam mob, yog li ntawd qee zaum nws yuav nyuaj rau cov kws kho mob kom paub tam sim ntawd seb nws puas yog PURA syndrome. Nov yog qee yam mob uas muaj cov tsos mob zoo sib xws:

• `(Angelman syndrome)`
• Kab mob Congenital central hypoventilation syndrome - Qhov no kuj yog ib qho kab mob tsis tshua muaj uas cuam tshuam rau kev ua pa.
• Myotonic dystrophy - Qhov no yog ib pawg ntawm cov kab mob ntawm cov leeg nqaij hu ua muscular dystrophy.
• Cov kab mob ntsig txog neurotransmitter - piv txwv li, Alzheimer's tus kab mob lossis Parkinson's tus kab mob.
• Pitt-Hopkins syndrome - Qhov no kuj yog ib qho kab mob caj ces tsis tshua muaj uas ua rau kev loj hlob qeeb thiab qaug dab peg.
• `(Prader-Willi syndrome)`
• `(Rett syndrome)`

Vim tias cov tsos mob no zoo sib xws , yuav tsum muaj kev kuaj mob tshwj xeeb kom paub tseeb tias yog mob dab tsi .

Puas muaj lwm lub npe rau PURA syndrome?

Muaj tseeb tiag, tej zaum cov kws kho mob yuav hu qhov mob no ua lwm lub npe tshawb fawb. Zoo siab uas paub me ntsis txog qhov ntawd thiab, puas yog? Piv txwv li:

• `(Kev loj hlob qeeb ntawm kev txawj ntse, autosomal dominant 31)`
• `(Kev puas siab puas ntsws ntsig txog PURA)`
• `(Pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome)`

Txawm hais tias cov npe no yuav zoo li nyuaj me ntsis, lawv txhua tus hais txog tib yam mob.

Tus mob PURA syndrome no feem ntau tshwm sim li cas?

Kab mob PURA yog ib yam kab mob uas tsis tshua muaj neeg paub . Txog tam sim no, muaj ntau tshaj 470 tus neeg laus thiab menyuam yaus tau tshaj tawm tias muaj tus mob no thoob ntiaj teb. Xav txog seb, muaj tsawg tus neeg xwb. Cov kws kho mob tau pib tham txog tus kab mob no xyoo 2014. Qhov ntawd txhais tau tias nws yog ib yam kab mob tshiab.

Kev sib raug zoo ntawm PURA syndrome thiab qaug dab peg yog dab tsi?

Muaj coob tus neeg uas yug los muaj tus mob PURA syndrome no muaj feem yuav mob qaug dab peg ntau dua . Qee zaum qhov no yog ib hom mob qaug dab peg uas tsis teb rau tshuaj. Qhov no txhais tau tias nws nyuaj rau tswj nrog tshuaj. Cov hom mob qaug dab peg feem ntau yog mob qaug dab peg lossis mob qaug dab peg dav dav. Cov tsos mob no feem ntau pib thaum yau lossis thaum yau .

Dab tsi yog cov ua rau muaj PURA syndrome? (ua kom meej me ntsis ntxiv)

Raws li peb tau tham txog lawm, qhov ua rau muaj PURA syndrome yog kev hloov pauv hauv ib lub noob tshwj xeeb hauv peb lub cev hu ua '(PURA gene)'. Lub noob '(PURA)' no ua lub luag haujlwm tseem ceeb heev rau kev loj hlob ntawm lub hlwb. Yog li, thaum muaj qhov tsis zoo hauv lub noob no, nws tuaj yeem cuam tshuam rau kev loj hlob ntawm cov hlwb '(neurons)' thiab kev tsim cov tshuaj hu ua '(myelin)'. '(Myelin)' yog ib yam khoom uas npog peb cov hlab ntsha thiab pab cov cim qhia mus los ntawm lawv sai sai. Yog li xav txog seb lub hlwb ua haujlwm li cas thaum cov txheej txheem no raug cuam tshuam.

Cov tsos mob ntawm PURA syndrome yog dab tsi?

Cov tsos mob ntawm PURA syndrome tuaj yeem cuam tshuam rau ntau qhov ntawm lub cev. Cov menyuam yaus yug los nrog tus mob no muaj kev tsis taus kawm nruab nrab mus rau hnyav thiab kev loj hlob qeeb .

Cov tsos mob pom hauv cov menyuam mos tshiab:

• Feem ntau muaj teeb meem noj mov lossis ua pa .
• Tej zaum yuav xav tau kev pab kho mob (xws li cov raj pub mov los yog cov raj ua pa), tiam sis feem ntau cov teeb meem ua pa yuav zoo dua hauv ib xyoos.
• Qhov nyuaj noj mov lossis nqos (dysphagia) qee zaum tuaj yeem dhau los ua mob ntev thiab kav ntev tshaj ib xyoos.

Cov tsos mob uas pom tau rau cov menyuam yaus uas loj me ntsis:

• Tej zaum koj yuav tsis taug kev tau zoo , thiab koj cov txuj ci kev txav mus los yuav tsis zoo.
• Txawm tias koj nkag siab hom lus los xij, tej zaum koj yuav hais tsis tau nws .
• Txawm tias lawv hais lus tau los xij, lawv kuj tseem yuav sib txuas lus tau hauv cov lus lossis kab lus luv luv heev .

Muaj coob tus neeg uas muaj tus mob PURA syndrome no yuav muaj mob qaug dab peg (epilepsy) lossis mob qaug dab peg. Feem ntau cov no yog:

• Nws pib ua ntej hnub nyoog 5 xyoos. Tej zaum nws yuav pib ua cov leeg nqaij ntswj tsis pub txav (myoclonus).
• Nws nyuaj rau tswj .
• Qee zaum nws tuaj yeem hloov mus ua ib hom mob qaug dab peg hnyav thiab nyuaj hu ua "Lennox-Gastaut syndrome."

Lwm cov tsos mob uas pom muaj rau cov menyuam yaus thiab cov neeg laus:

• Cov teeb meem pob txha thiab pob qij txha - xws li lub duav dysplasia thiab scoliosis.
• Teeb meem ua pa - ua tsis taus pa thaum pw tsaug zog (pw tsaug zog apnea) lossis ua pa qeeb qeeb, tsis tob (hypoventilation).
• Nyuaj siab ua kom lub cev sov (hypothermia).
• Kev qaug zog thiab tsaug zog ntau dhau (hypersomnia).
• Teeb meem ntawm qhov muag - xws li strabismus.
• Mob plab tsis tu ncua.
• Teeb meem ntawm lub plab zom mov - xws li cem quav.
• Cov leeg nqaij qis (hypotonia).
• Tsis ruaj khov qhov sib npaug lossis nyuaj taug kev (gait disorder).
• Kev puas tsuaj ntawm qhov muag.

Cov tsos mob uas tsis tshua muaj:

• Cov teeb meem plawv.
• Cov teeb meem ntawm lub cev endocrine - xws li tsis muaj vitamin D lossis laus ua ntej yug.
• Teeb meem ntawm cov zis thiab cov kab mob ntawm lub cev yug me nyuam.

Yuav kuaj mob PURA syndrome li cas?

Kab mob PURA yuav nyuaj rau kuaj mob los ntawm kev kuaj lub cev xwb. Raws li peb tau tham ua ntej lawm, cov tsos mob tuaj yeem zoo li lwm yam mob. Yog li ntawd, cov kws kho mob yuav tsum ua kev kuaj noob caj noob ces kom paub tseeb tias nws yog kab mob PURA .

Nyob ntawm seb koj tus menyuam cov tsos mob li cas, tus kws kho mob kuj tseem yuav ua lwm yam kev kuaj mob. Piv txwv li:

• Kev kuaj ntshav.
• Kev ntsuam xyuas kev ua pa.
• `(EEG)` (Electroencephalogram) - Qhov no kuaj xyuas kev ua haujlwm hluav taws xob ntawm lub hlwb.
• Kev kuaj qhov muag.

Yog xav paub ntxiv, koj tus kws kho mob kuj tseem yuav kom koj kuaj duab. Cov no suav nrog:

• Kev kuaj mob MRI (Magnetic Resonance Imaging).
• `(Kev kuaj mob Ultrasound)`.
• kev xeem '(X-ray)'.

Puas muaj kev kho rau PURA syndrome?

Qhov no yog qhov teeb meem loj tshaj plaws rau ntau tus neeg. Yog hais qhov tseeb, tam sim no tsis muaj tshuaj kho tau tus mob PURA syndrome no.Txawm li cas los xij, kev kuaj pom thiab kho mob thaum ntxov tuaj yeem txo qhov kev pheej hmoo ntawm cov teeb meem xws li scoliosis. Cov kws kho mob tuaj yeem pom zoo cov kev kho mob uas tuaj yeem pab koj thiab koj tus menyuam tswj cov tsos mob. Nrog kev kho mob zoo, koj tus menyuam tuaj yeem koom nrog ntau yam kev ua ub no li sai tau thiab ua rau lub neej yooj yim dua me ntsis .

Leej twg thiaj li koom nrog pab pawg kho mob rau koj tus menyuam tus mob PURA syndrome?

Yog koj tus menyuam muaj tus mob PURA syndrome, pab pawg kws kho mob uas kho lawv yuav muaj ntau tus kws tshwj xeeb. Qhov no txhais tau tias tsis yog muaj ib tus kws kho mob xwb, tab sis muaj ntau tus neeg ua haujlwm ua ke los muab kev kho mob zoo tshaj plaws rau koj tus menyuam. Ib pab pawg neeg zoo li no yuav muaj cov neeg zoo li:

• Ib tug kws kho qhov muag.
• Ib tug kws tshawb fawb txog noob caj noob ces.
• Ib tug kws kho mob uas tshwj xeeb hauv kev kho mob ntawm lub paj hlwb (neurologist).
• Kws kho mob ua haujlwm - ib tus neeg uas pab ua tej haujlwm txhua hnub.
• Ib tug kws phais mob orthopedic.
• Ib tug kws kho mob menyuam yaus.
• Tus kws kho lub cev yog ib tus neeg uas pab nrog tej yam xws li kev taug kev thiab kev txav mus los.
• Ib tug kws kho mob uas tshwj xeeb hauv kev ua pa (pulmonologist).
• Ib tug kws kho mob hais lus.

Cov neeg no txhua tus ua haujlwm ua ke los tsim ib txoj kev npaj kho mob uas haum rau tus menyuam tus mob zoo tshaj plaws.

Yuav kho tus mob PURA li cas?

Kev kho mob rau PURA syndrome sib txawv nyob ntawm tus menyuam cov tsos mob thiab lawv qhov hnyav . Yog tias tus menyuam mos muaj PURA syndrome, feem ntau lawv yuav tsum tau saib xyuas hauv tsev kho mob thiab muab kev pab nrog kev pub mis thiab kev ua pa.

Cov menyuam loj dua feem ntau raug kho zoo li no:

• Kev Kho Mob Hais Lus thiab Kev Siv Lus - Txhim kho kev txawj sib txuas lus.
• Kev Kho Mob Lub Cev - Txhim kho kev txav mus los.
• Muaj tej lub sij hawm, yuav muaj kev phais kom kho tau qhov teeb meem ntawm lub ntsej muag, lub plawv, pob txha, lossis lwm yam teeb meem.

Koj tuaj yeem muab tej yam rau koj tus menyuam xws li:

• Cov tshuaj tiv thaiv qaug dab peg.
• Cov khoom siv sib txuas lus.
• Kev txhawb nqa pub mis lossis nqos.
• Kev kho lub cev thiab kev kho mob hauv kev ua haujlwm.
• Kev kho mob hais lus thiab lus.
• Cov khoom siv pab - xws li cov strollers uas hloov tau yooj yim, cov braces, orthotics, walkers, lossis wheelchairs.

Kuv ua tau dab tsi los txo qhov kev pheej hmoo ntawm kuv tus menyuam uas muaj tus mob PURA syndrome?

Qhov no yog ib yam uas ntau tus niam txiv xav txog. Tab sis qhov tseeb yog, tsis muaj txoj hauv kev los tiv thaiv PURA syndrome . Tsis tas li ntawd,Nws tsis yog los ntawm tej yam koj ua. Nws yog los ntawm kev hloov pauv caj ces (kev hloov pauv) uas tshwm sim thaum lub sijhawm loj hlob ntawm tus menyuam hauv plab. Yog li ntawd, tsis txhob xav tias txhaum txog qhov no.

Yuav ua li cas rau tus menyuam uas muaj tus mob PURA syndrome?

PURA syndrome yog ib yam mob uas yuav kho tsis tau mus ib txhis . Muaj ntau tus menyuam yaus yuav muaj teeb meem kev kawm nruab nrab mus rau hnyav thiab kev loj hlob qeeb. Muaj ntau tus neeg yuav tsis tuaj yeem tham lossis taug kev ntawm lawv tus kheej . Txawm li cas los xij, nco ntsoov tias kev kho mob zoo tuaj yeem ua rau koj tus menyuam muaj lub neej zoo dua . Nrog kev kho mob, lawv kuj tuaj yeem zoo siab thiab loj hlob mus rau lawv lub peev xwm tag nrho.

Thaum twg kuv yuav tsum nrhiav kev pab kho mob rau kuv tus menyuam?

Kev kuaj pom tus mob PURA thaum ntxov yog ib qho tseem ceeb rau kev tswj cov tsos mob thiab txo qhov kev pheej hmoo ntawm cov teeb meem . Cov kws kho mob yuav ua kev kuaj mob tsis tu ncua los ntsuas koj tus menyuam txoj kev noj qab haus huv thiab cov tsos mob. Koj tus kws kho mob yuav pab koj tsim ib txoj kev npaj kho mob rau koj tus kheej uas ua tau raws li koj tus menyuam cov kev xav tau thiab lub hom phiaj.

Nws yog ib qho ib txwm muaj uas yuav xav tias ntxhov siab thiab ntxhov siab thaum koj tau txais kev kuaj mob zoo li PURA syndrome. Qhov no yog ib qho kev mob caj ces tsis tshua muaj uas cuam tshuam rau lub paj hlwb, ua rau muaj kev tsis taus ntawm kev kawm, kev loj hlob qeeb, thiab feem ntau yog qaug dab peg. Txawm li cas los xij, nrog kev sib xyaw ua ke ntawm kev kho mob, koj tus menyuam tuaj yeem muaj lub neej zoo dua . Tham nrog koj tus kws kho mob txog kev kho mob zoo uas tuaj yeem ua qhov sib txawv thaum koj tus menyuam loj hlob. Koj tsis nyob ib leeg , thiab muaj cov kws kho mob, cov kws kho mob, thiab ntau lwm tus uas tuaj yeem pab koj ntawm txoj kev no.

Thaum kawg, cov yam tseem ceeb tshaj plaws uas koj yuav tsum nco ntsoov (Cov Lus Coj Mus Tsev)

Txawm hais tias PURA syndrome yog ib yam kab mob caj ces tsis tshua muaj, nws yog ib qho tseem ceeb heev uas yuav tsum paub txog nws.

• Qhov no feem ntau cuam tshuam rau lub paj hlwb thiab tuaj yeem ua rau muaj mob xws li kev loj hlob qeeb, kev kawm tsis tau zoo, thiab qaug dab peg.
• Kev kuaj mob thaum ntxov thiab kev pib kho mob kom zoo yuav pab tau ntau yam hauv kev txhim kho tus menyuam lub neej.
• Txawm hais tias tsis muaj kev kho mob tag nrho rau qhov no los xij, muaj ntau yam kev kho mob los tswj cov tsos mob thiab txo cov teeb meem .
• Ib pab kws kho mob los ntawm ntau tus kws tshwj xeeb ua haujlwm ua ke los muab kev kho mob tsim nyog rau tus menyuam.
• Tsis muaj ib txoj kev twg los tiv thaiv qhov teeb meem no kom tsis txhob tshwm sim, thiab ua niam txiv, koj tsis tas yuav xav tias koj ua txhaum txog qhov no .
• Yog koj muaj kev txhawj xeeb txog koj tus menyuam txoj kev loj hlob lossis kev noj qab haus huv, tsis txhob ntshai thiab nrhiav kev pab kho mob tam sim ntawd . Qhov ntawd yog qhov zoo tshaj plaws uas koj ua tau.

Nco ntsoov tias, txhua tus menyuam muaj nqis heev, thiab txhua tus menyuam tsim nyog tau kev hlub thiab kev saib xyuas zoo tshaj plaws.

`PURA syndrome, cov kab mob caj ces, lub paj hlwb, kev loj hlob qeeb, qaug dab peg, kev noj qab haus huv ntawm menyuam yaus, cov kab mob tsis tshua muaj