Taus X Syndrome: tej yam tshwm sim, cov tsos mob thiab kev kho mob regimen

Tus tam sim no sai kev loj hlob ntawm cov tshuaj tau kev tso cai noob neej mus qhib ib tug ntau ntawm cov yav tas los tsis paub hais tias cov kab mob. Ntawm kev tseem ceeb nyob rau hauv lub thib nees nkaum xyoo pua ua si ib transcript ntawm lub caj code, uas ua rau nws tau kom paub tias cov ua rau ntau caj ces thiab chromosomal txawv txav. Muaj ntau tshaj li 3000 cov kab mob uas muaj feem rau ntau thiab zoo hloov nyob rau hauv lub caj khoom. Ib tug tshiab kuj kab mob no yog Taus X Syndrome, uas muaj ib tug ncaj high feem pua ntawm cov me nyuam xiam oob qhab.

Martin Bella kab mob - ib tug syndrome los yog neurological teeb meem?

Taus X Syndrome - congenital abnormality uas txuam nrog rau fragility ntawm cov X chromosome. Lub tswvyim ntawm "fragility" yog hais txog ib tug ntse narrowing ntawm lub nrig txog kev pom rau thaum xaus ntawm lub X chromosome. Tej kev hloov paub meej tias Taus X Syndrome. Cov duab cov me nyuam tshuav qhia lub backlog ntawm psychomotor txoj kev loj hlob, uas nyhav mus rau lub kev vam meej los ntawm thaum ntxov thaum yau.

yog vim li cas

Raws li yog lub npe hu, cov tib neeg genotype yog OK - nws yog 46 chromosomes, ob tug uas - tus txiv neej pw X thiab Y. Nyob rau hauv cov poj niam, ntsig txog, lub chromosome txheej yuav zoo li - 46 XX, thiab cov txiv neej - 46 HU. Cov muaj kev tshuaj ntsuam genetic ntaub ntawv muaj cov amino acid saw ntawm repetitions, uas nteg cov lus qhia txog cov qauv thiab cov kev khiav dej num ntawm lub neej yav tom ntej ntawm muaj sia.

Mob Martin Bella (Taus X-chromosome) muaj vim cov kev hloov nyob rau hauv lub X chromosome, ces nws yuav ua mob rau cov poj niam thiab cov txiv neej. Thinning feem x- chromosome vim muaj ib tug pathological kev nce rau hauv cov kev amino acid seem ntawm repeats - cytosine-guanine-guanine (C-G-T). Qhov no ua ke nrog ntawm reps muaj ob peb lub sij hawm nyob rau hauv lwm yam noob, tiam sis nws yog ib qho tseem ceeb, nyob rau hauv qhov tseeb, tus xov tooj ntawm repetitions. Feem ntau nws yog hom twg los ntawm 29 mus 31. Nyob rau hauv cov ntaub ntawv ntawm Martin-Tswb Syndrome xws nqi yog sharply nce thiab tej zaum yuav ces yuav tsum los ntawm 230 mus 4000 lub sij hawm, uas ua rau yus ib qho kev nce nyob rau hauv chromosome thiab noob tej cev khiav tsis zoo - FMR1, uas yog lub luag hauj lwm rau qhov tseeb tau hauj lwm thiab kev loj hlob ntawm lub paj hlwb system. Cov no tshwm tom qab ib tug luv luv lub sij hawm tom qab yug tus me nyuam thiab yog manifested psychomotor ruamqauj.

qhia kev xaiv

Tus nab npawb ntawm repetitions cytosine-guanine-guanine ua ntau yam embodiments ntawm kev soj ntsuam mob Martin-Tswb. Lub syndrome yuav muaj thaum cov ntaub ntawv. Yog hais tias txoj kev tshawb no qhia 55 mus rau 200 repeats, muaj premutation - ciam kev hloov uas ua ib tug neeg ib cov cab kuj, tab sis tsis muaj pom kev hloov ntawm poob siab system. Nyob rau hauv lub mature thiab laus muaj peev xwm tsim ataxic syndrome thiab thawj ntawm zes qe menyuam tsis ua hauj lwm nyob rau hauv cov poj niam. Qhov ntau yam ntawm kis tau tus mob ntawm cov syndrome yog high school. Nyiaj kuj ib nrab lub xeev - ib tug 40 mus rau 60 nucleotide repeats, uas clinically manifested tsis pub yuav tshwm sim nyob rau hauv ib ob peb tiam.

Devolution

Noob caj noob ces nqa tus kab mob no mus rau ib tug pab pawg neeg ntawm pathologies, pw ua niam txiv-txuas, uas yog, nrog lub X chromosome. Nyob rau hauv cov txiv neej, cov kab mob manifests nws tus kheej ntau thiab ntau kom meej meej, raws li lawv genotype muaj ib tug X chromosome. Cov poj niam pathology npaj nyob rau hauv cov ntaub ntawv ntawm ob leeg "pathological" X-autosomes. Heev tsis tshua, cov txiv neej muaj peev xwm premutatsionny kev xaiv thiab cab kuj. Cov poj niam no ho yuav ua vector tswj, nrog pass "pathological" chromosome nrog sib npaug yuav tshwm rau ob qho tib si cov ntxhais thiab cov tub rau. Mob txiv yuav kis X-chromosome tsuas ntxhais. Qub txeeg qub teg syndrome maj tsub kom los ntawm tiam mus rau ib tiam, xwv lub npe hu ua lub Sherman paradox. Cov soj ntsuam chav kawm ntawm lub syndrome yog npaum li cas hnyav zog dua cov txiv neej.

cov tsos mob

Taus X Syndrome, cov tsos mob ntawm uas zoo li tsi txawj has lug, tej zaum yuav tsis yeej ib txwm tau lub sij hawm kom paub txog txawm tias ib tug tej hoomaum los yog neurologist.

Cov soj ntsuam daim duab tej zaum yuav txawv nyob ntawm seb muaj pes tsawg tus repetitions ntawm C-xyoo.

Nyob rau hauv lub classic version ntawm psychomotor ruamqauj qhia tej zaum Taus X Syndrome. Diam duab ntawm tus me nyuam tso cai rau koj mus saib tau tus thawj yam ntxwv cov tsos mob ntawm tus kab mob no. Muaj yog tsis meej pem thiab discoordination taw, nqaij tsis muaj zog tsim. Heev feem ntau, cov me nyuam raug kev txom nyem los ntawm tsi txawj has lug. Nyob rau kev xeem, ib tug neurologist qhia kev cuam tshuam ntawm cov oculomotor paj , thiab ib co hloov nyob rau hauv lub hlwb. Nrog lub hnub nyoog, qhov teeb meem no yog aggravated, maj mam ua cov qauv ntawm cov kev puas hlwb ruamqauj.

Yuav puas siab puas ntsws yog tam sim no: ib tug me nyuam feem ntau blurts, unmotivated qhia tau hais tias grimaces feem ntau claps nws ob txhais tes, tej zaum behaves heev aggressively. Tej tsos mob dog dig zoo li schizophrenia. Lwm cov kev xaiv yog tsi txawj has lug, uas pib los tsim nyob rau hauv thaum ntxov thaum yau.

Taus X Syndrome: cov tsos mob

Ib tug tej feature ntawm cov tub hluas yog kom qhov luaj li cas ntawm cov noob qes (makroorhizm), tab sis nws muaj peev xwm yuav ntes tau nkaus xwb nyob rau hauv tiav nkauj tiav nraug. Nyob rau hauv cov ntaub ntawv no, tej endocrine teeb meem yog tsis tuaj kawm ntawv.

Hloov ntawm tsos no kuj tsis yog-kev, tab sis tej zaum yuav ntsib ib tus kws kho mob yuav nrhiav tau txoj cai kuaj mob. Tus me nyuam yog feem ntau ib tug loj lub taub hau, ntev lub ntsej muag thiab me ntsis nkhaus rostral ntxeev ntawm lub qhov ntswg. Muaj loj qhov ntev thiab cov ntiv taw, ntiv tes muaj ib tug ho muaj zog ntau yam ntawm cov lus tsa suab. Feem ntau, ntawm daim tawv nqaij muaj ib tug high elasticity.

Txoj kev ua premutatsionnogo variant ntawm tus kab mob muaj tej yam ntxwv. Rau ataxia syndrome yus co thiab impaired nco, tshwj xeeb yog luv luv-lub sij hawm, muaj cov kev hloov ntawm mus ob peb vas thiab lub tsheb txhob sibtsoo kev loj hlob ntawm dementia nrog cov poob ntawm kev txawj ntse zog (lub cev tsis nyeem thiab to taub cov lus). Symptomatology muaj ntau nyob rau hauv cov txiv neej cov cab kuj thiab muaj ib tug loj dua cov hoob kawm tshaj cov poj niam.

Thawj ntawm zes qe menyuam tsis ua hauj lwm tsiag ntawv los ntawm cov tsos ntawm ntxov ntxov lawm thiab cuam tshuam hauj lwm ntawm lub system, "lub pituitary-ntawm zes qe menyuam". Cov ntsiab lus tsub kom follicle stimulating lawm, ua rau cov tsos thiab disappearance ntawm poj niam vegetative cov tsos mob. Tus kab mob loj zuj zus maj mam thiab yuav tsum tau yam tshuaj hloov txoj kev kho.

Yuav ua li cas mus tshawb nrhiav qhov syndrome

Rau cov approximate kev txiav txim ntawm tus kab mob nyob rau hauv thaum ntxov ua sawv ntawm ib tug me nyuam tsis tsim cytogenetic txoj kev. Nws tshwm sim laj kab tus neeg mob cell cov ntaub ntawv thiab ntxiv vitamin V₁₀ (folic acid) raws li ib tug provocateur hloov nyob rau hauv chromosomes. Tom qab ib co sij hawm, txoj kev tshawb qhia ib tug chromosome muaj teeb meem loj thinning, cim tias seb thaum uas tus kab mob no Martin-Tswb, Taus-X syndrome. Qhov no laboratory xeem txoj kev yog tsis txaus muaj tseeb nyob rau tom qab ua sawv, vim nws kim heev kev siv ntawm multivitamins, uas muaj xws li folic acid.

Nws yog ib co kev polymerase chain reaction (PCR), uas tso cai rau decipher cov qauv ntawm cov amino acid residues nyob rau hauv lub X chromosome thiab qhia lub Taus X Syndrome. Duab ua los ntawm ib tug electron tshuab kuaj kab mob, qhia tau hais tias ntawm qhov chaw ntawm thinning autosomes.

Ib tug cais, tseem ntau tej embodiment no ua ke nrog ntawm PCR nrog lub kom paub tias nyob rau hauv capillary electrophoresis. Qhov no kuaj meej no chromosome txawv txav nyob rau hauv cov neeg mob uas ataxic syndrome thiab thawj ntawm zes qe menyuam insufficiency.

kev kho mob

Tom qab lub PCR, thiab qhov mob ntawm "Taus X Syndrome", kev kho mob yuav tsum tau pib sai li sai tau.

Txij li thaum tus kab mob no yog congenital thiab muaj ib tug chromosomal keeb kwm, txoj kev kho yog txo mus rau alleviate tus loj cov tsos mob ntawm tus kab mob.

Therapeutic tswvyim tswj nrhiav ces psychomotor ruamqauj, kev hloov nyob rau hauv kev kho ataxic syndrome thiab hormonal them nyiaj yug rau thawj ntawm zes qe menyuam tsis ua hauj lwm.

Cov me nyuam uas muaj hlwb ruamqauj thiab ib tug paub tseeb hais tias tshwm sim ntawm PCR kuaj "Taus X Syndrome". Zog ntawm Guj kuj muaj tsis muaj kev kho mob chaw, nyob qhov twg lub rehabilitation ntawm cov me nyuam, yog li kev kho mob tau ib tug cov menyuam yaus thiab cov tub txawg. Tam sim ntawd nws yuav tsum tau muab sau tseg tias kev kho mob ntawm cov me nyuam zoo tshaj cov neeg laus. Cov txheej txheem ntawm kev txawj ntse coj tus cwj pwm txoj kev kho zaug nrog tus kws kho mob rau ib tug neeg hauv paus, ce, lub teeb ntaub ntawv ntawm stimulants. Ib tug tshiab kuj sib yog txoj kev siv cov npaj raws li folic acid, tab sis ntau nyob deb tau kawm.

Tus neeg laus kho mob txoj kev kho muaj xws li stimulants thiab antidepressants, yog muaj qhov dynamic xyuas los ntawm tus kws kho mob thiab ib tug psychologist. Nyob rau hauv private tsev kho mob nqa tawm zaug microinjection npaj "Cere" thiab nws cov derivatives, cytomedines (tshuaj "Lidaza", "Solkoseril").

Thaum siv nootropics ataxic syndrome thiab cov ntshav nyias, angioprotectors thiab mixtures ntawm amino acids. Thawj ntawm zes qe menyuam tsis ua hauj lwm nyob rau hauv cov poj niam estrogens thiab herbal tshuaj yuav raug kho.

Cov hauj lwm zoo ntawm kev kho mob yog tus uas tsis muaj, tab sis tso cai rau tej lub sij hawm mus qeeb mob ntawm tus kab mob no.

kev tiv thaiv

Cov tib txoj kev ntawm kev tiv thaiv yog soj ntsuam kuaj cev xeeb tub cov poj niam. Nyob rau hauv lub tsim
lub teb chaws ua tswvcuab ib tug daim ntawv ntsuam xyuas uas yuav ntes Taus X Syndrome nyob rau ntawm ib thaum ntxov rau theem thiab muaj cai lub cev xeeb tub. Ib lwm embodiment yog nyob rau hauv vitro fertilization, uas tej zaum yuav ua rau kom ntseeg tau tias tus me nyuam tau txais lub neej yav tom ntej "noj qab nyob zoo" X chromosome.