
rettu syndrome

rettu syndrome (aartidi) oru janithaka thakaraaraan, ithu saadhaaranayaayi 6-18 praayathinu sesham sthreekalil maathram prathyakshappedunnu. bhashayileyum ekopanathileyum vaikalyangal, aavarthichulla chalanagal enniva lakshanangalil ulppedunnu. rogabaadhitharkk palappozhum mandagathiyilulla valarcha, nadakkaan budhimuttu, thalayude valippam enniva undaakunnu. ritt syndrominte sankeernathakalil apasmaram, scholiosis, urakka prasnangal enniva ulppedaam. avasthayude theevratha vyathyaasappettirikkunnu.
ex chromosomile messipi2 jeenile janithaka parivarthanamaanu rettu syndrome. ithu mikkavarum ellaayppozhum oru puthiya mutationaayi sambhavikkunnu, oru sathamaanathil thaazhe kesukal maathrame paarambaryamaayi labhikkoo. ithu penkuttikalil maathram sambhavikkunnu; samanamaaya mutationulla aankuttikal saadhaaranayaayi janichu taamasiyaathe marikkunnu. roganirnayam lakshanangale adisthaanamaakkiyullathaanu, janithaka parishodhanayiloode ithu sthireekarikkaan kazhiyum.
rettu syndrome enna rogathinu ariyappedunna chikilsayilla. rogalakshanangal mechappeduthunnathinnaani chikitsa nirddeshikkunnathu. aanti konvalsantukal pidichedukkaline sahayikkaan upayogikkaam. kuttiyude aavasyangalkkanusarichu prathyeka vidyaabhyaasam, physiotherapy, legg braceukal ennivayum upayogapradamaayekkaam. eee avasthayullavaril palarum madhyavayassilaan jeevikkunnath.
8, 500 sthreekalil oraale eee avastha badhikkunnu. 1999ll lebanese-american doctor hooda soghbi eee avasthaykku kaaranamakunna mutation kandethi.
adayaalangalum lakshanangalum.
ghattam I.
aadyakaala arambham ennu vilikkunna ghattam I saadhaaranayaayi 6 muthal 18 maasam vare praayatthil aarambikkunnu. eee ghattam palappozhum avaganikkappedunnu, kaaranam rogathinte lakshanagal alppam avyakthamaayirikkam, koodaathe maathapithaakkalkkum doctormark thudakkathil vikasanathinte sookshumamaaya mandagathiyekkurichu sradhikkaanaayekkilla. kunjinu kannil sanbarkkam kurayaan thudangukayum kalippaattangalodulla thaalparyam kurayukayum cheythekkaam. irikkuka allengil izhayuka thudangiya motha motor kazhivukalil kaalathamasam undakam. kaii valarchayum thala valarchayum kurayukayum cheythekkaam, pakshe shradha aakarshikkan paryaapthamalla. eee ghattam saadhaaranayaayi kurachu maasangal neendunilkkumenkilum oru varshathiladhikam thudaraam.
randaam ghattam.
randaam ghattam, allengil drutha vinashakaramaaya ghattam, saadhaaranayaayi 1 num 4 num idayil aarambikkukayum aazhchakalo maasangalo neendunilkkukayum cheyyum. kuttikk uddeshyapoornamaaya kaii vaidagdhyavum samsaarabhashayum nashtappedunnathinaal athinte arambham vegathilo kramenayo aakam. kineettal, kazhukal, kaikottal, thattal thudangiya kaikalude chalanagal, athupole kaikal vaayilekk aavarthichu neekkuka thudangiya swabhaavasavisheshathakal palappozhum aarambhikkunnath eee ghattathilaanu, ithine vaaykal ennu vilikkunnu. kuttikk kaikal purakil pidikkukayo vashangalil pidikkukayo cheyyaam, kramarahithamayi sparshikkukayo pidikkukayo vidukayo cheyyaam. kutty unarumbozhum chalanagal thudarukayum ennaal urakkathil aprathyakshamaakukayum cheiyunnu. shwaasakosharogangal, hyperventilation thudangiya sambhavangal sambhavikkam, ennirunnaalum urakkathil shwasanam saadhaaranayaayi mechappedunnu. chila penkuttikal saamoohika edapedalukalum ashayavinimayavum nashtappeduka polulla autistic polulla lakshanangalum prakadippikkunnu. nadattham asthiramaayirikkaam, motor chalanagal aarambhikkunnath budhimuttaayirikkum. eee ghattathil thalayude valarcha mandagathiyilaakunnathu saadhaaranayaayi kaanapedunnu.
ghattam III.
moonnaam ghattam, allengil peedabhoomi allengil suedo-steshanari ghattam, saadhaaranayaayi 2 num 10 num idayil aarambikkukayum varshangalolam neendunilkkukayum cheyyum. eee ghattathil apraxia, motor prasnangal, apasmarangal enniva pradhaanamaan. ennirunnaalum, aswasthatha, karachil, autistic polulla savisheshathakal enniva kuravaayathinaal perumaattatthil purogathi undakam. moonnaam ghattathil chuttupaadukalil kooduthal thaalparyam undakam, jagrata, shradha, ashayavinimaya kazhivukal enniva mechappettekkaam. niravadhi penkuttikal avarude jeevithathinte bhooribhaagavum eee ghattathilaanu.
naalam ghattam.
ghattam IV, allengil vaikia motor degration ghattam, varshangalo pathittaandukalo neendunilkkum. chalanaseshi kurayuka, nattellu valayuka, peshikalude balaheenata, kaadinyam, spaastitti, kaiyudeyo kaalinteo asaadhaaranamaaya bhaavathodoppam peshikalude toonn vardhippikkuka enniva pradhana savisheshathakalil ulppedunnu. munbu nadakkaan kazhiyumaayirunna penkuttikalkku nadakkaan nirthaam. naalam ghattathil bodhavalkaranam, ashayavinimayam allengil kaii vaidagdhyam saadhaaranayaayi kurayunnilla. aavarthichulla kaii chalanagal kurayukayum kanninte nottam saadhaaranayaayi mechappedukayum cheyyum.
vakabhedangal.
rettu syndrominte saadhaarana roopathinte adayaalangalum lakshanangalum nannayi vivarichittundu.
rettu syndrominte classical roopathinu purame, niravadhi asaadhaarana roopangal varshangalayi vivarichittundu; pradhana grouppukal ivayaanu
rettu syndrominte nirvachanam thanne varshangalayi parishkarikkappettundu asaadhaarana roopangal classical roopathinu (hagberg & gilberg, 1993) aduthu nilanilkkunnathinaal, "rettu complexes" enna padavali avatharippichu.
kaaranam.
janithakaparamayi, rettu syndrome (aartidi) ex chromosomil sthithicheyyunna jeane messipi 2 leeii mutationukal moolamaanu (ithu transcriptional silensinghilum methylated dnaude epigenetic niyanthranatthilum ulppedunnu), ithu idaykkide allengil jermline mutationukalil ninnu undakam. 10 sathamaanathil thaazhe aarr. tii. tii kesukalil, sii. dii. keey. ell. 5 allengil foxji 1 jeenukalile mutationukalum ithinu samaanamaanenn kandethiyittundu. rettu syndrome thudakkathil klinikkal nireekshanathiloodeyaanu nirnnayikkunnath, ennaal messipi 2 jeenil janithaka vaikalyam undaakumbol roganirnayam nirnnaayakamaan.
rettu syndrome vaasthavathil oru neuro degenerative avasthaykku vipareethamaayi oru neuro developmental avasthayaanennu vaadikkappettittundu. induced rettu syndrome ulla elikal neuronal maranam kanikkunnilla ennathaanu ithinu oru thelivu, chila padanangal soochippikkunnathu avar muthirnnavarayirikkumbol functional messipi 2 jeane thirike cherkkunnathiloode avayude phenotypeukale bhaagikamaayi rakshikkaan kazhiyumennu. eee rogam chikilsikkaan lakshyamitulla kooduthal padanangalilekku nayikkanum eee vivarangal sahaayichittund.
edaykkideyulla mutationukal.
kuranjathu 95 sathamaanam rettu syndrome kesukalilum, kaaranam kuttiyile "dii novo" mutationaanu. athaayath, ithu maathaapithaakkalil ninnu paarambaryamaayi labhichathalla. maathaapithaakkal saadhaaranayaayi janithakaparamayi saadhaaranamaanu, oru messipi 2 mutation illaathe.
aartidiyude edaykkideyulla roopathinte kesukalil, parivartthanam cheyyappetta messipi2 eathaandu ex chromosominte purusha pakarppile dii novo mutationil ninnu maathramaayi uruthirinjathaayi karuthappedunnu. beejam parivartthanam cheiyunnathinu kaaranam enthaanennu ithuvare arivayittilla, atharam parivartthanangal apoorvamaanu.
jermline mutationukal.
methyl-cpg-binding protein-2", messipi2 enna jeane encodingle jermline mutationulla phenotypic saadhaarana ammamaaril ninnum ithu paarambaryamaayi labikkum. eee sandarbhangalil, anantharaavakaasham oru ex-linked aadhipathya paatten pinthudarunnu, ithu mikka purushanmaarum "garbhaashayathil" allengil jananathinu thottupinnaale marikkunnathinaal sthreekalil maathram kaanapedunnu. x chromosominte neelamulla kaiyude attathu xq28-ll messipi2 kaanapedunnu. sisukkalkkulla thalarchayo neratheyulla apasmaaramo ulla oru asaadhaarana roopamaaya aartidi, "saiklin-dependent kinace-like 5" (sii. dii. keey. ell. 5) enna jeane encodingilekkulla mutation moolavum undakam. sankeernamaaya orotta jeane vaikalyangalum apasmaravum" enna thalakkettilulla jeane vaikalyangalekkurichulla oru lekhanathil ainn merwick, maargarat oo 'bryan, norman delanti ennivar paranjathupole, rettu syndrome 12 vayass thikayumbozhekkum jeevichirikkunna oro 12,500 sthree jananangalilum oraale badhikkunnu."
samvidaanam.
pontin noradrenergic kurravukal.
rettu syndrome ullavaril (avalokanam cheythavar) norpinefrinte thalachorile alavu kuravaanu. cerebral courtexilekkum hippocampasilekkum noradrenergic inversionte prathyeka uravidamaaya locus korooliyasile koshangalude gunangale "mecp 2" yude janithaka nashtam maattunnu. eee mattangalil hyperexitability, athinte noradrinergic interveshante pravartthanam kurayal enniva ulppedunnu. koodaathe, catecolamine sinthasisile nirakk parimithappedutthunna ensaimaaya tyrosine hydroxylase (th) marnayude alavu kurayunnathu "mekpi2"-poojyamaaya purushante muzhuvan ponukalilum muthirnna heterosaigas ("mekpi2" +/-) penn elikalilum kandethi. rogaprathirodha saankethikavidyakal upayogichu, protein staininginte alavu kurayuka, locus corulius th-expressing neuronukalude ennam, ghadanaye chuttipattiyulla dendraitik aarboraiseshante saandrata enniva rogalakshanamulla "mekpi 2"-kurravulla elikalil kaanichu. ennirunnaalum, locus corulius koshangal marikkunnilla, pakshe ponukalil apoptotic neuronukal kandethaathathinaal avayude poornnamaayum pakwathayulla phenotype nashtappedaan saadhyathayund.
eee neuronukal brainsteminum forbrainiludaneelamulla norpinefrininte oru pradhana uravidamaayathinaal rettu syndromil thadassappedunna shwasanavum vijnjaanavum polulla vaividhyamaarnna pravartthanangalude niyanthranatthil earppettirikkunnathil," mekkpi 2 "nashtappedunnathu cns pravarthanakshamatha nashtappedunna oru nirnaayaka sthalamaanu locus corulius ennu njangal anumaanikkunnu."athinaal saadhaarana locus corulius pravartthanam punasthaapikkunnathu rettu syndrome chikilsayil chikitsa moolyamullathaayirikkaam.
midu braine dopaminergic aswasthathakal.
sasthanikalude thalachorile bhooribhaagam dopamine messencephalonil sthithicheyyunna nucleusukalaal samanvayippikkappedunnu. substaantiya nigra paars kompaaktta (snpc), ventral tegmental eriya (vta), retrorabral feeld (rrf) ennivayil tyrosine hydroxylase (th, i) prakadippikkunna dopaminergic neuronukal adangiyirikkunnu.iii. catecolamine sinthasisile nirakk parimithappedutthunna ensime).
nigro-straital paatha snpcyil ninnu uthbhavikkukayum median forbrain bundle (mfb) vazhi athinte pradhana rostral targettaaya kaudettu-puttamen (cpu) vikiranam cheyyukayum cheiyunnu. courtico-basel ganglia-thaalamo-courtical lupe kanakkukoottunna motor thanthrangalude irukiya modulationil eee kanakshan ulppedunnu.
vaasthavathil, basel gangliayude canonical anatomophansional modaline adisthaanamaakki, straital gabarjik meediyam spiny neuronukalil sthithicheyyunna dopaminergic resepterukalil pravartthikkunnathiloode motor lupe modulate cheyyaan negrostriyettal dopamine kazhiyum.
manushyaril paarkkinsans rogam (pii. dii) moolamundaakunna negrostriyettal paathayude aniyanthrithamaaya avasthayaanu. snpc neuronukalude vishaamsham koodaathe/allengil janithaka apachayangal elikalilum praimettukalilum pareekshanathmaka parkinsonism srishtikkunnu. pii. dii, pii. dii mrugangalude modalukalude pothuvaaya savisheshathakal motor vaikalyangalaan (hypotonia, bradikineeshya, hypokkineeshya).
aarr. tii. tii pathology, chila vashangalil, pii. dii rogikalil nireekshikkunna motor phenotypene ovarlaappu cheiyunnu. postmortem mastishka saambilukalekkurichulla niravadhi neuropathylogical padanangal neuromelanin hypopigmentation, gadanayile kuravu, apoptosisinte vivaadaparamaaya lakshanagal enniva theliyikkunna oru ezz. enn. pii. sii maattathinu vaadichu. samaantharamaayi, niravadhi catecolamine (dopamine, noradrinaline, adrenaline), avayude pradhana upolppannangal enniva kurachathaanu hypometabolisathinu adivarayittath. aarr. tii. tiyude mouse modalukal labhyamaan, ettavum kooduthal padichava adrian pakshi allengil catalin mccormick laborattarikal vikasippichedutha "mekpi 2" elikal gadanaaparamaayi illaathaakkiyavayaanu.
aartidi phenotypinte motor spectrathinu anusrithamaayi, "mekpi2"-shoonya elikal prasavaananthara divasam 30 muthal motor asaadhaaranathakal kaanikkunnu, athu maranam vare vashalaakunnu. eee modalukal oru "mekipi2"-yude kuravinte tanmatra, neuro anatamikkal parasparabandhangal vyakthamaakkunnathin nirnayakamaaya oru substrate vaagdaanam cheiyunnu. aduthide (2008), catecolominergic neuronukalile "mekpi2" enna vyavasthaapithamaaya neekkam cheyyal (loxp-flanked "mekpi2" ullava upayogichu th-cre elikale marikadakkunnathiloode) oru motor rogalakshanathe punarnirnnayikkunnuvennu kaanichu, catecolominergic neuronukalil "mekpi2" illaatha elikalil th nte thalachorinte alavu kurayukayum motor phenotypilekku pankedukkukayum cheiyunnuvennu kooduthal rekhappeduthiyittundu.
ennirunnaalum, chikilsaashaasthrathinte moolyanirnnayathinaayi ettavum kooduthal padicha model "mekipi2"-nall mouse aanu ("mekipi2" poornnamaayum illaathathu). eee pashchaathalatthil, 5 aazhcha praayamaayappol muthal tii-expressing neuronukalude ennathilum soma valuppathilum kuravundaakukayum snpcyil ninnu undaakunna dopaminergic neuronukalude pradhana lakshyamaya kaudettu-puttamenile tii-immuno reactivity kurayukayum cheiyunnu. koodaathe, microdisected midu braine, straital pradeshangalile dopaminergic ulladakkangalekkurichu neurochemical vishakalanam anchum onpathum aazhcha praayatthil dopamine kurayunnathaayi velippeduthi. pinneedu (onpathu aazhchakalil), roopaghadanayude paaraamettarukal marikkondirikkunnu, pakshe vashalaakunnilla, athesamayam phenotype purogamikkukayum perumattakkuravu kooduthal kadinamaakukayum cheiyunnu ennathu sradheyamaanu. snpcyil avasheshikkunna neuronukalile poornnamaayum sajeevamaaya th (serin 40-phosphorylated isophome) nte alavu 5 aazhchayil neriya thothil baadhikkappedunnu, pakshe 9 aazhchakal kondu gurutharamaayi thakararilakunnu. oduvil, "messipi2"-nte kurravulla elikalil vittumaaraathathum vaayiloodeyullathumaaya ell-dopa chikitsa upayogichukondu, munbu thiricharinja chila motor kammi kuranju ennu rachayithakkal report cheythu. mothatthil, eee phalangal neuromoter kammikk kaaranamakunna "mekpi 2"-nte kurravulla mrugangalile nigrostriyettal dopaminergic pathayil maattam varuthaan vaadikkunnu.
braine-derived neurotrophic faaktarumaayi (bdnf) eee rogathinu bandhamund.
rettu syndrome patholajiyil messipi 2-nte molecular functionukal.
sharifi yasui avalokanam cheythathupole, "mekipi2" jeane encode cheytha mekipi2 protein, sii. pii. jii. methylated dna sittukalodu uyarnna aduppamulla dnaumayi bandhippikkukayum transcriptione baadikkukayum cheiyunnu. mekipi2-nuu 5emsy (5-methylsitosine), 5echmc (5-hydroxymethylsites) ennivayumaayi samanamaaya bandhathode bandhippikkaan kazhiyum, koodaathe eee dinucleodide sasthanikalude genome mekipi2 binding saittukalil bhooribhaagathinum kaaranamaakunnu. uyarnna oordar kromaattin oorganaiseshanil ulppettirikkunna messipi 2 chromosomukal othukkunnathinu aavasyamaanennu thonnunnu. dnaumayi bandhippikkunna messipi2 mrna spliesing sambhavangale swaadheenikkunnu. dna attakuttappanikalkkum messipi2 pravartthikkunnu. "mekipi2-/ +" kurravulla penn elikalkku dna kedupaadukal varuthunna ejantumaarude saannidhyathil koshangalude marananirakk vardhikkukayum neratheyulla vaardhakyathinu saadhyathayullavayumaan.
samvedanaathmaka paatha mapp.
eiii prasidheekarichu.
roganirnayam.
janithaka kaaranam kandethunnathinumbu, oottisam spectrum disordezhsinoppam "diagnostic aandu stattistikkal maanuval oof mental disordezhs" (dii. ezz. emm) rettu syndrome oru vyapakamaaya vikasana vaikalyamayi prakhyaapichirunnu. autistic savisheshathakal prakadippikkunna ferragly ex syndrome, tuberus sclerosis allengil daun syndrome polulla autistic ithara vaikalyangalumayi aartidi saamyamullathinaal chilar eee nirnnayaka niyamanathinethire vaadichu.
gaveshanangal tanmatra samvidaanam theliyichathinushesham, 2013-ll dii. ezz. emm-5 syndrome oru maanasika vaikalyamayi tharamthirikkunnathil ninnu poornnamaayum neekkam cheythu.
vikasana naazhikakkallukalumayi bandhapetta enthengilum asaadhaaranathakal nireekshikkunnathinu kuttiyude valarchayeyum vikaasatheyum sookshumamaayi nireekshikkunnathu rettu syndrome roganirnayathil ulppedunnu. thalayude valarcha kurayunnathu nireekshikkumbol roganirnayam pariganikkunnu. samanamaaya lakshanangalulla avasthakal aadyam thallikkalayanam.
roganirnayathinu paalikkenda chila maanadandangalundu. oru rakthaparisodhanaykku messipi2 myootteshante saannidhyam nirnnayikkaano thallikkalayaano kazhiyum, ennirunnaalum, eee mutation mattu avasthakalilum undu.
oru classic roganirnayathinu, oru roganirnayathil vidhi parayunnathinulla naalu maanadandangalum athupole thanne oru roganirnayam nirasikkunnathinulla rund maanadandangalum paalikkanam. pinthunaykkunna maanadandangalum undayirikkaam, pakshe roganirnayathinu avaa aavasyamilla. oru asaadhaaranamaaya allengil veriyant roganirnayathinu, roganirnayathil vidhi parayunnathinulla naalu maanadandangalil randennam engilum paalikkanam, athupole pathinonnu pinthunaykkunna maanadandangalil anjennam paalikkanam. rogalakshana regression kaalayalavum thudarnnu veendedukkal allengil rogalakshana sthireekaranavum undaakanam. kuttikalkk oottisam, cerebral palsy allengil mattoru tharatthilulla vikasana kaalathamasam ennivayundennu palappozhum thettayi kandethunnu. roganirnayam nadatthaan messipi2 mutation positteev parisodhana mathiyaakilla.
vidhi
pinvalikkunnu
pinthunaykkunna maanadandangal
deferential diagnosis.
oottisathinu samanamaaya rettu syndrominte lakshanangal
cerebral palsyilum ulla rettu syndrominte lakshanagal (rettu syndromil kaanapedunna tharatthilulla regression cerebral palsyil asaadhaaranamaayirikkum; eee ashayakkuzhappam apoorvvamaayi maathrame undakkaan kazhiyoo):
chikitsa.
rettu syndrome rogathinu nilavil chikilsayilla. pravartthanam mechappeduthunnathinum lakshanangale abhisambodhana cheiyunnathinumaayaanu chikitsa nirddeshikkappedunnathu. jeevithathiludaneelam vyakthiye chikilsikkaan oru multy-disciplinary team sameepanam saadhaaranayaayi upayogikkunnu. eee teamil oru praadhamika paricharana doctor, physical theraappist, okyupeshanal theraappist, speach-langwej paatholajist, nutritionist, academic, aakyupeshanal krameekaranangalile support sevanangal enniva ulppedaam. chila kuttikalkk scholiosis thadayaan braceukal, kaikalude chalanagal parishkkarikkunnathin splints, mathiyaya bharam nilanirthaan sahaayikkunnathin poshakaahaara paripaadikal thudangiya prathyeka upakaranangalum sahaayangalum aavashyamaayi vannekkaam.
pettennulla hridayasambandhamaaya maranathinulla saadhyatha vardhikkunnathinaal, oru vaarshika screening iii. keey. jiyil long kyu. tii syndrome kandethumbol athu beetta-blocker polulla aanti-arithamik upayogichu chikilsikkunnu. oru beetaa blockerinekkaal phenitooyin kooduthal phalapradamaakaamennathinu chila thelivukalundu.
rettu syndrome (aartidi) ulla kuttikalil shwasana velluvilikal laghookarikkunnathinulla aushadha edapedalukal ippozhum vikasippichukondirikkum, aartidi ulla kuttikalkk rebratheing teknikkukal nirddeshikkappedaam (udha.jii., rebrithing maaskukal), ooksijan vitharanam, allengil prathirodha allengil rakshathmaka shwasana chikilsakalaayi noonn-invasive ventilation. aarr. tii. tii ulla vyakthikalil uyarnna auxidative stress level avarude cardiorespirate aarogyathilum pravartthanatthilum swaadheenam vardhippikkukayum pettennulla hridaya maranathinulla saadhyatha naadakeeyamaayi vardhippikkukayum cheiyunnu-rettu syndrome ulla kuttikalil 300x vardhicha apakadasaadhyathayumaayi bandhapetta oru aswaabhaavikatha. ekkaaranathaal, aarr. tii. tii ulla kuttikalil asaadhaaranamaaya shwasana swabhaavangal sookshumamaayi nireekshikkendathu pradhaanamaan, nirddeshichathupole jeevan rakshikkunna shwasana mechappeduthal upakaranangalum thanthrangalum phalapradamaayi upayogikkunnuvennu urappaakkuka.  
kutty prakadippikkunna shwasana swabhaava savisheshathakale aashrayich nirddishta chikitsa reethikal vyathyaasappedaam. balaprayogamulla shwasanam, durbalamaaya shwasanam, apnaustik shwasanam enningane moonnu pradhana aarr. tii. tii shwasana phenotypeukal doctormar thiricharinjittundu. udaaharanathinu, sakthamaaya shwasanathinaayi, kutty unarnnirikkumbol rebrething maaskukal upayogikkaam.
2021 desemberil, australian kambaniyaaya neuran farmaceuticals rettu syndrome chikilsaykkaayi trophinettaidinte moonnaam ghatta pareekshanatthil positteev phalangal report cheythu. 2022 septambaril, eph. dii. eiii trophinettaidinulla oru puthiya marunnu apeksha sweekarikkukayum athinu munganana avalokanam nalkukayum cheythu. 2023 maarchil rettu syndrome chikilsaykkaayi eee marunnin fda amgeekaaram labhichu.
pravachanam.
rogakarikalaaya "mekpi2" mutationukalulla purushanmaar saadhaaranayaayi onno athiladhikamo adhika ex chromosomukalo soomatik mosaisikomo illengil kadinamaaya encephalopathy moolam aadyathe 2 varshathinullil marikkunnu.
eee rogamulla aann bhroonangal apoorvvamaayi maathrame athijeevikkaarulloo. rogamundaakkunna jeane ex chromosomilaayathinaal, avalude ex chromosomil messipi 2 mutationumaayi janikkunna oru sthreek athe jeeninte saadhaarana pakarppulla mattoru ex chromosome undu, athesamayam ex chromosomil mutation ulla oru purushanu mattoru ex chromosome illa, oru vaii chromosome maathram; athinaal, addehathinu saadhaarana jeane illa. mekipi2 mutation moolamundaakunna asaadhaarana proteinukalkku purame saadhaarana proteinukal nalkunna oru saadhaarana jeane illaathe, xy cariotype aann garbhapindathinu rogathinte vikasanam mandagathiyilaakkaan kazhiyilla, athinaal mekipi2 mutation ulla pala aann bhroonangaludeyum parajayam nilanilkkunnu.
ennirunnaalum, messipi2 mutationulla sthreekalkku kooduthal kaalam nilanilkkaan aavashyamaaya saadhaarana protein nalkunna oru noonn-mutent chromosome undu. gaveshanangal kaanikkunnath, rettu syndrome ulla purushanmaarkk clinefelter syndrome undakam, athil purushanu oru xy caryotype undu. athinaal, mikka kesukalilum rettis baadhicha bhroonathinu athijeevikkaan oru mutent allatha "mecp 2" jeane aavasyamaanu, koodaathe bhroonathinu, purushano sthriyo aaya mattoru ex chromosome undaayirikkanam.
ennirunnaalum, mekpi2 mutation (sthreekalil classical rettu syndrome bandhapetta) ulla 46,000 xy cariotype purushanmaarude niravadhi kesukal undaayittund, avar neonattal encephalopathy baadhichavarum 2 vayassinu munbu marikkukayum cheythu. purushanmaaril rettu syndrome undaakunnath anjjaathamaanu, bhaagikamaayi rettu syndrome-anubandha mekpi2 mutationukalulla aann bhroonangalude athijeevanam kuravaayathinaal, mekpi2 mutationukal moolamundaakunna adayaalangalum retts moolamundaakunna lakshanangalum thammilulla vyathyaasangal bhaagikamaayi kaaranam.
sthreekalkku 40 varshamo athil kooduthalo vare jeevikkaan kazhiyum. rettu syndrome sambandhicha laborattari padanangal inipparayunna asaadhaaranathakal kaanichekkaam
maranangalude uyarnna anupatham pettennullathaanu, pakshe mikkavaykkum thirichariyaan kazhiyunna karanangalilla; chila sandarbhangalil maranathinu ettavum saadhyatha thaazhepparayunnavayude falamaanu
charithram.
vienna austriyayile pediatricianaaya andreas rettu 1966-laanu eee avastha aadyamaayi vivarichathu. addehathinte rachanakal jarmman bhashayilaayathinaal avaa engleesh samsaarikkunna lokath vyaapakamaayi ariyapettilla. sweedish pediatricianaaya bengt hagberg 1983ll oru engleesh lekhanam prasidheekarikkukayum eee avasthaykku rettentinte peru nalkukayum cheythu. 1999ll lebanese-american doctor hooda soghbi eee avasthaykku kaaranamakunna mutation kandethi.
eee syndrominte bodhavalkarana prachaaranangale pinthunaykkukayum chikitsa gaveshanatheyum pinthunaykkunnathinaayi dhanasamaharanam nadathukayum cheiyunna samghadanakalundu. udaaharanathinu, rettu syndrome ulla penkuttikalkkayi noomi association football (socker) malsarangal samghadippikkunnu. paarees klinikkile austiyoppathi aaya theyari brettan aanu cormailess-enn-paareesil nadakkunna eee paripaadiyude samghaadakan.
panthrand teamukalaanu eee malsarathil pankedukkuka. laa vii seloon noyami groupinu pinthuna nalkiyaanu eee football malsaram nadakkunnathu. professional football thaarangalaaya slaattan ibrahimovichu, adrian rabiet, gianelli imbula, axel ngando, kaal tokko-ekkambi ennivarude sharttukal sammanangalil ulppedum. syndrome ulla rando moonno kuttikalkk speyinile barsalonayile oru prathyeka kendratthil sambhavana cheytha panathode aavashyamaaya chikitsa labikkum. paareesile cormailsile ashupathriyil janicha noymiyude perilaanu eee samghadana ariyappedunnathu. penkuttiyeyum onniladhikam vaikalyangalulla mattu kuttikaleyum sahayikkunnathinum eee avasthayekkurichu avabodham srishtikkunnathinum penkuttiyude maathaapithaakkal eee samghadana sthaapichu.
gaveshanam.
oru saadhaarana messipi2 jeeninte niyantritha aavishkaaram nedunnathinaayi mrugangalude maathrkakalil jeane therapy padanatthilaanu. 2022 maarchil, rettu syndrome ulla muthirnna sthreekalkkaayulla avarude anweshanaathmaka jeane therapy klinikkal trialinaayi health kaanadayil ninnu klinikkal trial aaplikkeshan (cta) amgeekaaram labhichathayi taisha jeane theraappikal prakhyaapichu.
fictionil.
2021 augustil britiish ezhuthukaariyaaya victoria scott ezhuthiya "kshama" enna noval seeyasinte thalavan prasidheekarichu. rettu syndrome ulla oru kathaapaathrathe avatharippikkunna eee noval jeane therapy sameepakaala sambhavavikasangal paryavekshanam cheythu.

