
augden syndrome

ogden syndrome, jyala aine-terminal acetyltransferase deficiency (aine. aii. tii. dii.) asehi mhanatat, haah balpanatil eka ex-linked vikar aahe jyamadhye vruddha swaroop, vaadh ayashasvi hone, hypotonia, jaagtik vikasatmak vilamb, cryptorchidism aanee utsfurt cardiac erythmia nirman karananya vishisht chraniophacial vaishishtyanche vegale sanyojan aahe. pahilya kutumbachi olakh ogden, utah yethe jhaali, jyat kutumbatil sadasyanchya done pidhyanmadhye paach prabhavit mule hotee. utparivartan heey c.109t> see (pii.naa10 madheel sair37pro) prakar, pramukh manvi aine-terminal acetyltransferase enzyme pranalichya (nata) utprerak upghatkala encoding karnara eka januk. done pidhyanmadhye teen prabhavit mulansah, heey samaan utparivartan dusya asambandhit kutumbat olakhale gele. yaa gambhir anuvanshik vikarala tatpurte augden syndrome asey naav denyat aale aahe, kaaran heey asey shahar aahe jithe pahile prabhavit kutumb rahate.
chinhe aanee lakshane.
hii eka ksh-sanlagn sthitee aahe jee mahilanpeksha purushanna jaast prabhavit karate aanee vikasatmak vilamb aanee dysmorphic vaishishtyansah prasutinantarchya vadhitil apayshadvare darshavili jaate, jyat surkutya asalele kapal, agra aanee prushth fontnell, pramukh dolhe, mothe khalee-vakanare palpabral fisher, jaad kinwa jhakalele papanya, mothe qaan, flaired neres, hypoplastic aley nassie, short columela, baher padnare varche oth aanee microretrognathia yancha samavesh aahe. fontnell bund honyasahi vilamb hoto aanee mulanchi botehi rund asatat. tvacheche vaishishtya mhanje tvachekhalil kamitakami charbi, tvachechya keshika vikrutee aanee atishay bareek cases aanee bhuvaya asaleli anavashyakta kinwa shithilata. erythmianantar hrudayavikarachya dhakkyamule mrutyu jhaala, joou serve prabhavit vyaktinmadhye nondavala gela. mulanmadhye hrudayachya talatil vikrutee aanee chraniophacial vikrutee hotya, jyaa tyanchya samaan swarupasathi jababdar hotya. mule kadhihi ektyane basoo shakat navhati aanee konihi bolayala shikat nasey. tyaa sarvancha vaishishtyapurn vruddha swaroop hota, jyamule tyanna 'lahan mhatare' asey kautumbik topananav midale."anek mulanmadhye tyanchya hrudayatil sanrachanatmak visangati hotya jyat nilayasth septal dosh, alindastha septal dosh aanee fuffusiy dhamani stenosis yancha samavesh hota. mrutyupurvi electrocardiogram nondavalelya ghatananmadhye torsades dii points, akali nilay sankuchan (pii. vhee. see.), akali alind sankuchan (pii. aii. see.), supraventricular tachycardia (ess. vhee. tii. aii. see.) aanee nilay tachycardia (vhee. tii. aii. see.) yancha samavesh hota. bahutek mulanna vandhyatvatil andakosh hote aanee bahutansh mulanna kiman ektarfi guptasutritva hote. sarvanmadhye navjat hypotonia hypertoniamadhye vadhat hota aanee emm. aar. aay. varr cerebral etrophy; anek, parantu sarvanna nahee, neurogenic scoliosis hota. mrutyu serve prakarananmadhye done varshanpurvi aanee bahutansh prakarananmadhye eka varshapurvi jhaala. mool prakashanat nondavalelya pratyek mulasathi vyapak vaidyakeey tapasheel aahet
jaiv rasayanshastra.
augden syndrome hii eka pranghatak ex-linked recessive sthitee aahe. prabhavit januk ex-gunasutravar asalyamule, purushanmadhye ex gunasutrachi keval eka prat asate, tyamule pratyek peshimadhye utparivartan hote, parantu mahilanmadhye done peshi asatat aanee tyamule kahee peshi utparivartit naan keleli prat vaparu shakatat aanee itar utparivartit prat vapartat, yaa vastusthitimule teey purushanvar adhik gambhirpane parinam karate. aine-terminal acetyltransferase (natt) janukatil utparivartanashi sambandhit haah pahila nondavalela manvi anuvanshik vikar hota. mool ogden kutumbatil purushanmadhye naa10 yaa januk sanketanmadhye sair37pro (ess37pii) utparivartan hote, jeey natache utprerak upghatak aahe, jeey prathinanchya anuvadanantarchya acetylationmadhye sameel asalele pramukh manvi enzyme heterodimer aahe. ess 37pii utparivartan parinami natta prathin upaghatakchya shevati fakt eka bhagat eka amino aamlala dusyashii, prolinsathi eka serine badalate. tevhapasoon jagbharatil atishay qamee prakarananmadhye itar utparivartan aadhalale aahet, jyamadhye sarvat prachalit mhanje aarg83see utparivartan. yaa janukatil utparivartan prathinanchi rachana badalate, jyamule teey samanya prathinanpeksha aine-terminal acetylationmadhye qamee prabhavi hote, jyamule balavar anek parinam hotat, kaaran aine-terminal acetylation heey manavanmadhil sarvat samanya prathin badalanpaiki eka aahe, jeey serve manvi prathinanpaiki andaje 80 takke prathinanvar hote.
nidan.
sampoorn exome anukraman hii oo. ess. chee pushti karnyasathi vaparali jaanari nishchit nidan paddhat aahe.
itihas.
hallena blackla 1979 madhye ticha pahila mulga, kennie reey jhaala. too ticha pahila janmalela mulga asalyane, kalya rangachya vyaktila kahitari chukiche asalyache lakshat aale nahee. kennie reey black yanche 1980 madhye, tyanchya pahilya vadhadivsachya agadi aadhi nidhan jhaale aanee augden syndromemule maran pavnare teey pahile dnyat arbhak hote. matra, teey aevdhyavarach sampale nahee. hallena blackla mule hott rahili aanee 1987 madhye teela ticha pudhcha mulga, hyrum jhaala. suruvatipasunach, kalya lokanchya lakshat aale qee hiremmadhye kennie reey sarkhich vaishishtye aahet parantu tyanna vatale qee teey bhau asalyamule asey jhaale aahe. kennie repramanech, hiram tyachya pahilya vadhadivsachya aadhi nighun gela. kalya mulinchya swatachya mulanchi suruvat hoiparyantach teela kahitari chukiche asalyache jaanavale. kalya mulinchya potee janmaleli mule tichya swatachya mulansarkhich disat hotee aanee tevhach hallena vaidyakeey madat magitali.
kennie reey yanchya mrutyunantar tees varshanni uttare aalee. ogden syndromecha shodh 2011 madhye jeey. gholsan yanchya netrutvakhalil sanshodhakanchya chamoone lavala hota. lyon, jyamadhyeh alaan eff. dorkhand, kaee wang, rune evgenth, jinchuan zing, jennifer jeey. johnston, jeffrey jeey. swenson, doubleu. ivan johnson, barry muur, chadd dii. huff, lyne emm. burd, johnn see. carrie, cathy aaa. stevens, taao jiang, christa shank, heidy deborah pheen, reed jeey. choree aanee itar 10. lyon tyache nishkarsh prakashit karnar asalyachya agadi aadhi, pramukhyane californiamadhye rahana kutumbache sanshodhan karananya dusarya chamoone tyachyashi sampark sadhala. navyane sapadalelya kutumbane samaan vaishishtye asaleli teen arbhakehi gamavali hotee. yaa naveen kutumbat krishnavarniy kutumbasarkhech durmil utparivartan jhaale. dusya kutumbachya astitvamule heey utparivartan eka lakshansamuchchay banale, vegale kahitari nahee.