strom syndrome

strome syndrome hii eka atishay durmil autosomal recessive janukeey sthitee aahe, jyache vaishishtya aatadyansambandhi etresiya (jyamadhye aatadyacha bhag gahal aahe), dolhyanchi vikrutee aanee sookshmasarpata aahe. aatadyansambandhicha etreshiya haah "safarchand-saal" prakarcha asato, jyamadhye urvarit aatade tyachya mukhya dhamanibhovati valalele asate. dolhyacha pudhcha tisra bhag samanyatah avikasit asato aanee samanyatah vikasas madhyam vilamb hoto. qamee samanya vaishishtyanmadhye alindatil septal dosh, snayuncha vadhalela rung kinwa hadanchya vikrutincha samavesh hoto. sharirik vaishishtyanmadhye lahan unchi, mothe, qamee aakarache qaan, lahan jabada, mothe tond, epicanthic folds kinwa bareek, viral kesancha samavesh asoo shakato.
heey lakshansamuchchay 'senpf' janukanchya donhi pratinmadhil utparivartananmule hote, jeey centromere prathine efsathi sanket detat. heey prathin peshi vibhajanamadhye guntalele asate, jyamadhye teey kinetocore mhanoon olakhalya jaanarya disk-aakarachya prathin sankulacha bhag banate. selia navachya patal peshichya baher padnyachya rachnesathi microtubules navachya lamb, dandgolakar sanrachananna disha denyat dekhil see. aine. pii. eff. chee bhoomika aahe, jeey peshi vibhajan, sthalantar kinwa vibhedanala chalana denyasathi sanket pathavtat aanee prapt karatat. janukatil utparivartananmule peshinchi vibhagani mandavate aanee kahee bhrun vikas prakriya viskalit hotat kinwa purn hott naheet aanee yaa lakshansamuchchayala siliopathy mhanoon vargikrut kele jaau shakate. lakshansamuchchay samanyatah lakshananvar aadharit nidan kele jaate, parantu anuvanshik chachani sampoorn pushti pradan karate.
lakshanambhovati upchar kendre. aatadyansambandhi etresiya samanyatah balpanat anastomosis shastrakriyedvare sudharnyayogya asato. rognidan adyap nishchit nahee. jeey janm aanee balpanapasun (bahusankhya) jagale aahet teey balpan aanee paugandavastheparyant jagale aahet, parantu sarvat gambhir prakarane asalelya mothya alpasankhyakancha janmapurvi kinwa janmanantar lagechach mrutyu jhaala aahe.
tyacha pradurbhav adyap kalalela nahee. sumare 13 vyaktinche nidan jhaale hote. done bhavandanmadhil lakshananvar aadharit heey lakshan pratham 1993 madhye norweche balrogatadnya pieter strome aanee tyanchya tyanchya olakhale. 2008 chya abhyasat disana rugnache varnan kartana tyache naav tyachya navavarun thevanyat aale. 2015 madhye, "senpf" madheel utparivartan pratham rogkarak mhanoon olakhale gele aanee straumechya mool done bhavandanchya 2016 chya anuvanshik vishleshanat asey aadhalun aale qee doghanmadhyehi "senpf" chya donhi pratinmadhye utparivartan jhaale hote, jyamule teey lakshansamuchchayache kaaran mhanoon sthapit jhaale.
chinhe aanee lakshane.
aatadyansambandhi attressia, dolhyanchi vikrutee aanee sookshmasarpata hii strome syndromechi sarvat samanya lakshane aahet. tathapi, yaa lakshansamuchchayamadhye tivratechi eka vistrut shreni aahe jee samanyatah teey jyaa kutumbat sadar karate, tyat kahee kutumbanmadhye itar konatihi vaishishtye nasaleli keval saumya shikanyachi akshamata aanee sookshmasarpata pasoon gambhir mootrapind, hriday, dolha, hadanche, mendu aanee itaranmadhye aatadyansambandhi vikrutee asalelya 'garbhashayat' mrutyuparyant chalate. parivartaneey tivrata hii samanyatah "see. aine. pii. eff.". sarkhich karye karye itar janukanmadhil utparivartananchya pratyek kutumbat upasthiti kinwa anupasthitimule asate.
aatade.
strom syndrome asalelya vyakti samanyatah aatdyansambandhichya attratias janmala yetat, jyamadhye aatadyache kahee bhag arund kinwa gahal asatat, jyamule navjat aatadyat adthala nirman hoto jyavar shastrakriya karane aavashyak asate. aatadyansambandhicha etreshiya haah "safarchand-saalee" prakarcha asato, joou eka asamanya prakar aahe jyamadhye aatadyacha urvarit bhag tyachya mukhya dhamanibhovati valalela aadhalato aanee yamule samanyatah jejunamvar parinam hoto. anekada, aatadyacha barachsa bhag yaa prakarchya attrasiachya swarupat gahal hoto. kahivela aatadyansambandhi mulrotation dekhil houu shakate.
sahityatil lakshansamuchchay asalelya kiman done vyaktinni aatdyansambandhichya attrasia talhalya aahet, jyapaiki ekache samaan utparivartan asalele bhawande hote jyanni kele navhate. mudat sampanyaparyant tikoon naan rahilelya done bhavandanmadhye, aatadyansambandhi etresiya (jyamadhye duodenal etresiya dekhil samavisht hota) aanee mulrotation adhik gambhir hote.
dolhe.
dolhe anekada lahan aanee avikasit asatat, sahasa eka dolhyat disanaonyapekaiishaa adhik gambhir asatat. heey bubul, motibindu, parpatalachi apardarshakta (leukoma), sclerocornia (jyamadhye dolhyacha pandhara bhag parpatla madhye misalato), eka lahan parpatla (microcornia) aanee synachia (jyamadhye bubul parpatla kinwa lensla chikatoon rahato) madhye coloboma (chhidra) mhanoon prakat houu shakate. dolhyachya pudhil bhagacha haah avikasit vikas, jyala anterior segment disgenesis (jyamadhye pieterchi visangati samavisht aahe) mhanoon olakhale jaate, yamule dolhyanchya dravachya nicharashi nigadit bighadamule, uchch intraocular dabamule kachbinducha dhoka vadhu shakato, jaree heey konatyahi prabhavit vyaktinmadhye nondavale gele navhate.
dolhe olandane (oesotropiya) dekhil asoo shakate aanee qamee samanyatah valalelya drushtipatal raktavahinya kinwa optic nerve hypoplasia asoo shakatat. dolhyanchya visangatimule laksh kendrit karnyat asamarthata (drushtivaishamya) tasech andhadrushti houu shakate, jyamadhye mendu balpanat kamkuvat dolhyatoon inputvar prakriya karnyat ayashasvi houu lagato.
neurological.
yaa lakshansamuchchayane prabhavit jhalelyanna sahasa microcephaly asate. mothya alpasankhyakanmadhye packygria (mendumadhye qamee kadya) kinwa licencephaly (uthal kadya) dekhil asatat. vikasatmak vilamb sahasa upasthit asato. too sahasa madhyam teey gambhir asato, parantu kahee prakarananmadhye too saumya asato. prabhavit jhalelyanpaiki kahinchya snayuncha toone vadhala aahe. eka vyaktila cortical heterotopia hota, jeey majjatantuchya vikasadarmyan majjatantuchya peshinchya bighadalelya sthalantarache lakshan aahe.
corpus calosum aanee cerebellumche agenesis kinwa hypoplasia heey kiman eka jiwant prabhavit vyaktimadhye aanee anekanmadhye aadhalale aahet jeey mudatbhar tikale naheet. janmanantar 9 mahinyanni eka jiwant vyaktimadhye aanee mudat sampanyaparyant jiwant nasalelya chaar vyaktinmadhye hydrocephalus jhaala. zebrafishmadhye hydrocephalus dekhil aadhalun aala jyachi 'senpf' januke prayogikdrushtya baher kadhanyat aalee hotee. hydrocephalus sahkaryane cerebeller hypoplasiamule dandy-walker vikrutee houu shakate, jee itar anek siliopathymadhye aadhalate, kahivela corpus calosumchya agenesis.
bhautik vaishishtye.
sharirik vaishishtye badaltat parantu sahasa lahan unchi, mothe, qamee aakarache qaan, uchch anunasik pool, lahan jabada aanee mothe tond yancha samavesh hoto. prabhavit jhalelyanpaiki kahinche epicanthal folds kinwa bareek, viral cases hote. davya galavar tvachecha thasa gheuun eka vyakti janmala aalyache sanganyat aale. chaar prabhavit vyakti jeey mudatbhar tikale naheet tyanna talu fatale hote.
hriday.
prabhavit jhalelyanpaiki alpasankhyak lock alindatil septal doshasah janmala aale aahet, joou eka prakarcha janmajat hriday dosh aahe. eka prabhavit vyaktila ventricular septal dosh aanee payanmadhye navjat paridhiy sooj asalyache nondavale gele. done vyakti jeey mudatbhar tikale naheet, tyanna paytant foramen oval, eka vishisht prakarcha alind septal dosh, tasech qamee jhalelya hriday snayu ootee (myocardium) aanee asamanyapane lahan hriday snayu peshi (cardiomyocytes) hotya.
hadanche.
eka prabhavit vyaktila nitamb dysplasia jhalyache nondavale gele, jyamule visthapan jhaale aanee disanaalaaa metopic chraniosynostosis jhalyache nondavale gele, jyamule metopic rij jhaala. done vyakti jeey mudatbhar tikale naheet, tyanchya angathyacha bahupadi (prexial polydactyly), sapat mankyacha kanaa (platispondily) aanee chhatichya bhintitil durmil vikrutee hotee jyala sternal phaat mhanatat.
mootrapind.
done jiwant vyaktinmadhye avikasit aanee vikrut mutrapinde asalyache nondavale gele aahe. janmachya velee tapasani kartana jaree ekhadya vyaktichi mootrapind samanya asalyache aadhalun aale asale, taree nantar paugandavasthechya uttaradhat tyala mootrapind nikami jhaale aanee tyala mootrapind hypoplasia asalyache aadhalun aale. done bhawand jeey mudatbhar tikale naheet, tyanna mootrapind aanee mutramarg avikasit hote, jyamule mootra tayar hote jyala hydronephrosis mhanatat.
rakt.
eka prabhavit vyaktila balpanat plateletschi (thrombocytopenia) sankhya qamee jhalyache nondavale gele hote, jyasathi sankraman aavashyak hote. platelets heey megacariocytesvaril protrutionpasoon tayar jhalele cellular tukade aahet jeey raktachya guthalya honyas saksham karatat. itar konatyahi prabhavit vyaktinmadhye adyap raktachi lakshane aadhalaleli naheet.
kaaran.
stromy syndrome haah gunasutra 1 chya lamb bahuvar asalelya "senpf" janukachya donhi pratinmadhil utparivartananmule hoto. centromere prathin eff sathee "senpf" code. peshi vibhajanadarmyan gunasutranchya pruthakkaranat centromere prathine guntaleli asatat. heey kayanetokorcha bhag tayar karoon hote, jeey disk aakarache prathine sankul aahet jeey gunasutranchya centromeresna (vibhajak swarupat, jyala chromatids mhanatat) peshitil sukshmanalikanshi jodanyas anumati detat (jyala spindle upkaran mhanatat teey tayar karate). yamule sukshmanalikanna peshi vibhajit karnyachya prakriyet gunasutra vegale khechanyachi mubha milate. yaa janukatil utparivartananmule prarambhik vikasadarmyan peshinchi vibhagani bighadte. jevha "senpf" rupantarit hote tevha mitosisla jaast vel lagalyache aadhalun aale aahe.
sukshmanalikan heey prathinanche sanrachana aahet jeey cytoskeletoncha bhag aahet aanee peshinche vividh, jatil aakar asane aavashyak aahe. teey peshi sthalantarit karnyachya kshamatet dekhil madat karatat. teey kendrakadware tayar kele jaatat, jyamadhye ekmekanchya ujavya konat dandgolakar kendrakanchi jodee asate. vibhaganipurvi, cnpf heey eka kendrak (mudder centriol) chya shevati sthanikikaran karate, jenekarun sukshmanalikanna yogya dishene valavoon siliya navache patal pesheey prakshepan tayar karata yeil. bahutek siliya heey prathamik siliya asatat, jeey peshi sthalantar, vibhajan kinwa vibhedanala chalana denyasathi peshi sanket, sanket pathvane aanee prapt karane yaat guntalele asatat. senpf" madheel utparivartane siliya tayar karnyachya yaa kshamatet vyatyay aanatat; jevha "senpf" utparivartit hote tevha siliyachi sankhya qamee aanee lahan asalyache aadhalun aale aahe. tyamule strome syndrome haah siliopathy mhanoon olakhalya olakhalya roganchya vargikaranantargat yeto.
senpf" madhye olakhali geleli utparivartan hii bahutek murkhpanachi utparivartan aahet, jyacha parinam mhanoon prathine qamee hotat aanee parinami samanyatah karyatmak nasatat, parantu frameshift aanee splies-site utparivartan dekhil olakhale gele aahet. yaa lakshansamuchchayala karanibhoot tharalelya anek murkhpanachya utparivartananmadhye janukachya exon 12 madhye (20 paiki) aahet, parantu itar exonmadhil utparivartane olakhali gelee aahet. utparivartanachya prakarachi parva naan karata lakshansamuchchaychi tivrata aanee lakshane badalat asatat parantu samanyatah kutumbanmadhye susangat asatat, asey suchavate qee tivrata itar janukanmadhil utparivartananchya upasthitivar avalambun asoo shakate jee samaan karye karatat kinwa anyatha senpfshee (epistasis mhanoon olakhali jaanari ghatana) parasparsanvad sadhatat kinwa prabhavit karatat. asey suchavale gele aahe qee, cnpf aanee aanee yanchyatil parasparkriya, jyamule utparivartit jhalyavar microlicencephaly hote, tee strom syndromedhil microsafalishy sambandhit aahe.
nidan.
nidan samanyatah lakshananche nirikshan karoon sadhya kele jaate; tathapi, anuvanshik chachani sampoorn pushti pradan karate. microcephaly, aatadyansambandhi attressia aanee dolhyanchya kahee vikrutee prasutipoorv ultrasoundavar disun yetat. brain emm. aar. aay. scanmule mendutil konatyahi visangati ughad houu shakatat jyaa syndromeshy sambandhit asoo shakatat. anuvanshik shodh paddhatimadhye sampoorn exome anukraman aanee puttle chachanicha samavesh hoto, jyamadhye samavisht sambhavya janukanchi nivad anukramit karane samavisht asate. sangar sequencing utparivartanachya swarupachi pushti karoo shakate.
ekada ekhadya kutumbachi utparivartit 'senpf' janukansathi vahak mhanoon olakh patali qee, prasutipoorv nidan aanee purv pratyaropan anuvanshik nidan bhavishyatil garbhadharanesathi dile jaau shakate.
upchar.
upchar lakshananvar laksh kendrit karatat. aatadyansambandhiche attreshiya heey sahasa anastomosis balpanat shastrakriyedvare sudharnyayogya asate; tathapi, dolhyachi konatihi shastrakriya nondavali gelee navhati. vanne bever aanee itar. kachbinduchya rugnanvar dekhrekh thevanyachi shifaras kelee jaate. 2021 chya eka prakaran ahavalat eka usheera paugandavasthetil rugnamadhye mootrapind nikami honyasathi mootrapind pratyaropanacha yashasvi vapar jhalyache nondavale gele.
purvasoochana.
rognidan adyap nishchit nahee. badhitanpaiki bahutansh janm aanee balpanapasun bachavale aahet aanee yaa vyakti balpan aanee paugandavastheparyant jagat aahet. tathapi, sarvat gambhir lakshane asalelya mothya alpasankhyakancha janmapurvi kinwa tyanantar kahee kalatach mrutyu jhaala aahe. syndrome asalele sarvat june dnyat lock, straumeche mool done bhawande, jyanche sadarikaran saumya teey madhyam hote, teey tyanchya visavya varshi hote aanee nokarivar hote.
mahamarishastra.
yaa lakshansamuchchayacha pradurbhav adyap dnyat nahee. sumare 13 vyaktinche nidan jhaale hote.
itihas.
hii sthitee pahilyanda 1993 madhye olakhali gelee, jevha norweche balrogatadnya pieter strome aanee tyanchya tyanchya norwechya stavenger yetheel rogland madhyavarti rugnalayat safarchand-salichya aatdyansambandhichya attressiachya barobar microcephaly aanee dolhyanchya vikrutee asalelya done navjat bhavandanche nirikshan kele. tyanni prastavit kele qee teey eka naveen lakshansamuchchay tayar karate. nantar sleej andd goldblatt (1996), shanske aanee itaranni abhyas keela. (2002), bellini aanee itar. (2002) aanee itaranni samaan lakshane asalelya itar rugnanche nirikshan kele jyanna syndrome asalyache disun aale. 2008 madhye, vanne bever aanee itar. syndrome asalyasarkhe asalyasarkhe disana rugnacha samna kelyanantar, yaa syndromela stromche naav dile jaave, assa prastav mandala.
2015 madhye, paanee aanee itar. eka british kutumbavar anuvanshik vishleshan kele jyamadhye chaar garbhancha siliopathychya lakshanansah garbhpat jhaala hota. tyanna aadhalale qee garbhanmadhye 'see. aine. pii. eff.' chya donhi pratinmadhye utparivartan jhaale hote. tyanantar tyanni microcephaly asalelya 1,000 vyaktinchya samoohache vishleshan kele aanee tyanna aadhalale qee tyanchyapaiki eka mulgi, tichya 'cnpf' chya donhi pratinmadhye utparivartan jhaali hotee. teela shikanyas honara vilamb saumya teey madhyam hota aanee teela tichya sharirik vyavastheshi sambandhit itar konatihi samasya navhati. yamule prathamach pushti jhaali qee "see. aine. pii. eff." madheel utparivartan heey rogkarak aahet.
2016 madhye, filges aanee itar. tyanantar stromchya mool done bhavandancha pathpurava keela aanee sampoorn exome sequencing vapar karoon tyanna aadhalale qee tyanchya doghanchya 'senpf' chya donhi pratinmadhye utparivartan jhaale aahe, jyamule 'senpf' madhye utparivartan heey strom syndromeche kaaran mhanoon sthapit jhaale.

