
seudoachondroplacia

seudoachondroplacia haah hadanchya vadhicha eka varshane aalela vikar aahe. haah eka aanuvanshik autosomal pramukh vikar aahe. suruvatila vaadh samanya asalyane, sadharanpane 2-3 varshe vayaparyant yacha shodh lavala jaat nahee. seudoachondroplachia shodh sahasa samvayaskanchya tulanet, eka chalanari chaal kinwa khalchya avyavanchya vikrutee udbhavananya resheey vadhichya thembadware pratham lavala jaato.
seudoachondroplacia (seudoachondroplastic dysplasia aanee seudoachondroplastic spondyloephisal dysplasia syndrome mhanoonahi olakhala jaanara) haah eka austiocondrodiplacy aahe jyacha parinam pramukhyane avayavanmadhil hadanchya vadhila pratibandh kelyamule saumya teey gambhirpane lahan unchimadhye hoto. namkaranatil samanatemule gondhal houu shakato, parantu seudoachondroplachia gondhal acondroplasiashi houu naye, joou vaidyakeey aanee anuvanshikdrushtya vegala sangadyancha dysplasia aahe. seudoachondroplacia haah cartilage oligomeric matricks prathinanchya (comp) januk sanketanmadhil vishamjaivik utparivartanamule hoto. comp janukatil utparivartan dekhil ekadhik epiphysal dysplasiala karanibhoot tharoo shakate. seudoachondroplacia aanee multiple epiphysal dysplasia yanchyatil radioclinical samanata asoonahi, nantarche qamee gambhir aahe.
chinhe aanee lakshane.
asman lahan unchi, khalchya avayavanchi vikrutee, lahan bote aanee
asthibandhan shithilata hii seudoachondroplacial tyachi vishisht vaishishtye dete. hii sthitee asalelya praudh purushanchi sarasari unchi sumare 120 centimeter (3 phoot, 11 inch) asate, tarr praudh mahilanchi unchi samanyatah sumare 116 centimeter (3 phoot, 9 inch) asate. prabhavit vyakti janmachya velee lakshaniyaritya lahan nasatat. seudoachondroplacia asalele rugna chalanyachya vikrutee, khalchya avyavachi vikrutee kinwa mand vadhicha darr asalele asatat jeey vaishishtyapurnapane vayachya 2-3 varshant disatat. asman lahan unchiche vaishishtya mhanje nikatvarti avayavanche bhag (humery aanee femora) lahan hone jyala prakand lahan hone dekhil mhanatat. itar dnyat vaidyakeey vaishishtyanmadhye, vastavik valgam/varam, brachydactyly (lahan bote), nitamb, gudghyanchi lavchik lavchikta vikrutee, kambarechya mankyache hyperlordosis, khadkal khalchya paay aanee lamb hadanchya metaficel tokanche rundikaran, visheshtah mangat, gudghe aanee ghotya yancha samavesh hoto. seudoachondroplacia asalelya rugnanmadhye samanya buddhimatta aanee chraniophacial vaishishtye asatat.
anuvanshiki.
seudoacondroplacia haah autosomal prabhavi paddhatine varshane midala aahe, jaree atishay durmil autosomal recessive swarupache eka prakaran nondavale gele aahe. prabhavit vyaktinchya santatila utparivarti elil varshane milanyacha 50 takke dhoka asato. jarr rog nirman karnare utparivartan prabhavit kutumbatil sadasyamadhye (hect aanee itar) olakhale gele asel tarr aanvik anuvanshik tapasanidvare prasutipoorv chachani upalabdh aahe. 1995).
pathophysiology.
comp heey eka bahyakoshikiy calcium bandhan prathin aahe jeey thet chaundrocyte sthalantar aanee prasarat sameel aahe. hadey aanee snayu vikasit kartana chondrocytesmadhye heey uchch varanvartevar disun yete. seudocondroplaciam, comp stravale jaat nahee, parantu tyaeivaji chondrocytesmadhye gola hote, shevati tyanna vish pajate aanee marte. jaree kahee chaundrocytes tikoon rahnyas saksham asale taree vaadh lakshaniyaritya qamee hote, parinami vaishishtyapurnaritya lahan avyav aanee vikarane grast asalelyancha chehara aanee dhad prabhavit hott nahee asey disate (omeem 2008). compmadhil utparivartananmule phenotypic spectrum tayar hoto, jeey seudocondroplacia (sarvat tokala) teey ekadhik epiphisal dysplasia kinwa maid (anuvanshikdrushtya samaan, jaree hadanche saumya dysplasia) paryant badalate.
hetch aanee itaranni kelele abhyas. asey suchavate qee aay. ex. collegen prakar, visheshtah upasthi tayar karnyasathi sakriy asalela collegen, seudoachondroplacia mahattvachi bhoomika bajavate. sanshodhakanna aadhalale qee aay. aay. ess. collegen heey seudoachondroplacia chondrocytesmadhye jamaa jhaale hote. yaa shodhatoon asey soochit hote qee seudoachondroplacia rogjananamadhye utparivarti comp januk utpadanancha ix collegen prakarasarkhya vishisht upasthi ghatkanshi parasparsanvad samavisht asato aanee too keval compchya nirmiti aanee sravavar utparivarti renunchya parinamancha parinam nahee (omeem 2008).
aanvik jivashastra.
comp januk gunasutra 19p13.1 varr sthit aahe; tyacha achook sthan p49747 aahe. compmadhye 19 exon asatat. upasthi oligomeric matricks prathine 757 aa (omeem 2008) aahe. comp prathine bahyakoshikiy matrixmadhye aadhaltat, prathine aanee itar renunche eka jatil jaale jeey asthibandhan aanee snayu tayar karananya peshinmadhil jaaget tayar hote. heey condrocytes (upasthi tayar karananya peshi) jawal dekhil aadhalate. austiogenesismadhye (hadey tayar honyamadhye), visheshtah pathicha kanaa, nitamb aanee avayavanmadhye, jethe austiogenesischi suruvat upasthi tayar honyapasoon hote, jyat colcified hote aanee nantar hadanmadhye rupantarit hote, condrocytes mahatvachi bhoomika bajavtat. aaplyala comp prathinanche samanya karya adyap purnapane samajale nahee, jaree teey peshinchi peshi vaadh, vibhajan aanee apoptosis (swayam-vinash), tasech peshinchya halchali aanee sanlagnakanchya niyamanat bhag ghenyat (omeem 2008) bhag ghete asey manale jaate.
seudoachondroplacia asalelya vyaktinmadhye comp janukatil sumare 60 utparivartan olakhale gele aahet. tathapi, sarvat samanya elilsathi jababdar asalele utparivartan mhanje agadi lahan tiheri punaravrutti (jee. aii. see.) madhye eka codon kadhoon takane, jyamadhye 469 weey amino acid, eka espartic acid, kadhoon takale jaate (omeem 2008).
nidan.
vishisht vaidyakeey aanee radiographic sangadyanchya vaishishtyansah achook nidan heey achook itihasavar mothya pramanat tayar kele jaate. anuvanshik nidan heey dii. aine. aii. anukramanikevar aadharit aahe. seudoachondroplacia sarkhya comp utparivartan asalelya rugnanmadhye plazma compchi patali lakshaniyaritya qamee hott asalyane, plazma compchi patali mojane heey yache nidan karnyache aanee pathopiziologicaldrushty samaan vikaranche eka vishvasarh sadhan banale aahe.
hadanchi radiography.
sadhya radiographic nishkarshanche achook moolyankan heey seudoachondroplacia nidanat mahattvapoorn yogdan denare aahe. heey lakshat ghenyasarkhe aahe qee mankyachya radiographic vikrutee kalantarane door hotat. epiphysalchya vikrutee eka pragatishil marg chalavatat. rugnanna sahasa nitamb aanee gudghyanchya sandhivatachi suruvat lavkar hote. seudoachondroplacia asalelya rugnanchya hadanchya anek adviteey radiographic vikrutee sahityat nondavalya gelya aahet.
upchar.
seudoachondroplacia sadhya konatahi upchar nahee. tathapi, yaa vikaramule udbhavananya vividh aarogya samasyanchya vyavasthapanamadhye sandhyanchya asvasthatesathi vedanshamak (vedanashamak), khalchya avyavachya vikrutinsathi austiyotami aanee scholiosische shastrakriyedvare upchar yasarkhi aushadhe samavisht aahet. kahee sambandhit aarogya samasyanchya pratibandhamadhye sandhyanchi lavchikta rakhanyasathi sharirik upcharpaddhati aanee sandhivatjanya sandhyancha rog aanee majjasansthesambandhi prakatikaran (visheshtah pathichya kanyachya sankochan) shodhanyasathi niyamit tapasani yancha samavesh hoto. yavyatirikt, aarogya seva puravathadar, prabhavit vyakti aanee tyanchya kutumbansathi alp unchi aanee itar sharirik vikrutinshi sambandhit manosamajik samasyansathi upchar karanyachi shifaras karatat (oo. emm. aay. emm. 2008).
mahamarishastra.
seudoachondroplacia haah serve vanshik gatanna prabhavit karananya sarvat samanya sangadyanchya displasiazpaiki eka aahe. tathapi, sadhya konatyahi achook ghatananchi aakadevari upalabdh nahee (suurii aanee itar. 2004).
itihas.
1995 madhye dow. yanchya netrutvakhalil sanshodhan chamoone seudoachondroplacial jababdar asalelya janukachi olakh patavali. texas-huston vidyapithachya jackwellin hect, aarogya vidnyan kendra. yaa shodhamule comp prathinanvar dekhil prakash padala, jyala sanghane sangada vaadh aanee unchi nishchit karnyat (hetch aanee itar) kassa taree sahbhagi asalyache olakhale. 1995).
1997 madhye, portland, oregon yetheel shriners hospitalmadhil sanshodhan vibhagatil hetch aanee tichya sahakanyanni pudhil sanshodhan kele, jyamule tyanna assa shodh lagla qee utparivarti compche antahkoshik bhavitavya vaiyaktik chaundrocytes vatavaranadvare nirdharit kele jaate, yaa aadhichya kalpanechya ulat qee seudoachondroplacia nenanya comp kriyakalap heey compveril utparivartanachya sanrachanatmak prabhavandvare nirdharit kele gele hote; yacha arth assa qee comp kriyakalap peshi-vishisht aahet (hetch aanee itar. 1995).
hetch aanee itar. seudoachondroplacia chondrocytesmadhye jamaa jhalelya aay. aay. ess. collegen prakaracha dekhil shodh lagla. yaa shodhamule utparivarti comp eleelchya utpadananchya vishisht "upasthi ghatakan" saha, visheshtah ix collegen prakarashi (hetch aanee itar) jhalelya parasparsanvadamule seudoachondroplacia rogjanan jhalyache soochit jhaale. 1995).