
jornstad syndrome

jornstad syndrome anedi pili torty, sensorinural chevititanam mariyu juttu asaadhaaranatalatoo kuudina autosomal recessive puttukatho vachhe paristhiti. dheenini modatisaarigaa 1965loe oslo loe professor varninchaaru. pili torty mariyu vinikidi lopam madhya anubandhaanni gamaninchina taruvaata garjinche theoder bizornstad. eee paristhiti chaalaa arudu, prapanchavyaaptamgaa vaidya saahityamlo 50 kante takkuva kesulu namodu cheyabaddaayi.
björnstad syndrome anedi bcs1l janyuvu yokka utparivartanala valla sambhavistundi. eee janyuvu yokka protein utpatti bcs1ell, idhi aakseekarana phosphorylationlo mukhyamaina paatra poeshistumdi. utparivartana chendina bcs1ell reactive oxygen jaatula utpattini penchutundi, idhi pili torty mariyu vinikidi lopaniki paramaanu kaaranam kaavacchu, eee rendoo jornstad syndromtho sambandham kaligi untaayi. pili torty baalyamlone gurtinchabadindi mariyu vakreekruta juttu shaftlu mariyu pelusugaa unde juttu kaligi untundi. vinikidi lopam saadhaaranamgaa jeevitamlo chaalaa praarambhamloonae, tarachugaa modati samvatsaramlo spashtamgaa kanipistundi.
sankethaalu mariyu lakshanaalu.
jornstad syndrome yokka rendu pradhana lakshanaalu pili torty mariyu sensorinural vinikidi lopam. eee rendu lakshanaalu saadhaaranamgaa 2 samvatsaraala vayassulopu kanipistaayi mariyu björnstad syndrome unna vyaktulalo 80-99% loe untaayi. sumaruga 5-29% vyaktulu medho vaikalyalu mariyu hypogonadismnu kooda anubhavistaaru. juttu varnadravyam lekapovadam mariyu unhydrosis choopinche kesulu kooda namodu cheyabaddaayi.
pili torty anedi vakreekruta juttu shaftla dwara vargeekarinchabadina juttu asaadhaaranata. jornstad syndrome rogulalo, juttu saadhaaranamgaa podigaa, pelusugaa, mutakagaa kanipistundi mariyu sulabhamgaa virigipotundi. kontamandi rogulalo, juttu asaadhaaranatalu talapai juttunu matrame prabhaavitam chestaayi, ayithe kanubommalu, ventrukalu mariyu sariiramlooni itara bhagalapai juttunu prabhaavitam chese kesulu namodu cheyabaddaayi. pili tortitho sambandham unna juttu balaheenapadatam kooda sumaru 80 saatam mandhi rogulalo alopesiaku kaaranamavutundi.
jornstad syndromtho sambandham unna vinikidi lopam yokka teevrata maarutuu untundi. kontamandi vyaktulu nirdishta pounahpunyaala vadda sabdaalanu vinaleru, marikondaru puurtigaa chevitivaaru. lopali chevi kanajaalam debbatinadam valla vaati vinikidi nashtam sambhavistundi.
janyusaastram.
björnstad syndrome anedi bcs1l janyuvulo (sthaanam 2pq35) utparivartana valla sambhavistundi mariyu autosomal tirogamana namoonaalo vaarasatvamgaa vastundi. bcs1l anedi cellular respiration yokka aakseekarana phosphorylation samayamlo sanklishta IIIకి raiske phe/senu jodinche protein. bcs1ell janyuvu yokka utparivartanalu protein utpatti sanklishtamaina III erpadatamlo sahayapadakunda nirodhistaayi, idhi aakseekarana phosphorylation taggistundi mariyu reactive oxygen jaatula utpattini penchutundi.
jornstad syndromtho mudipadi unna rendu missense utparivartanalu namodu cheyabaddaayi, ayithe aneka itara vaividhyaalu vyadhikaarakamgaa unnatlu anumaanistunnaaru. vividha bcs1ell utparivartanala yokka clinical teevrata reactive oxygen jaatula yokka vividha utpatti valla sambhavinchavachhu. jornstad syndrome yokka lakshanaalu reactive oxygen jaatulaku lopali chevi mariyu juttu kanajaalaala yokka nirdishta sunnitatvaaniki aapaadinchabadavachu, conny marinta parisoedhana avasaram. bcs1ell janyuvu yokka utparivartanalu kooda grassil syndromeku daariteeyavachchu, idhi vaarasatvamgaa vacchina praanaantaka jeevakriya vyaadhi.
rooga nirdhaarana.
garjinche theoder jornstad 1965loe pilli torty mariyu vinikidi lopam madhya paraspara sambandhaanni modatisaarigaa gamaninchaadu, aaa taruvaata jornstad syndrome unna enimidi mandhi rogulanu gurtinchaadu. pili torty unna eee enimidi mandhi rogulalo, aiduguru sensorinural chevititanaanni anubhavinchaaru. copenhagenlo jarigina vaidya samavesamlo jornstad thana roganirdhaarana mariyu pariseelanalanu samarpinchaaru.
pilli torty anie piluvabade vakreekruta juttunu pariseelinchadam dwara jornstad syndrome nirdhaarana cheyabadutundi, dheenini puttina ventane gamaninchavacchu. pili torty unikini nirdhaarinchadaaniki, oka vyakti yokka juttu shaftlanu electron suukshmadarshini krinda pareekshistaaru. dhruveekarinchabadina pili torty unna sisuvulu sambhaavya sensorinural chevititanaanni anchanaa vaeyadaaniki varusa shravana pareekshalaku gurikawali. chivaraku, björnstad syndrome nirdhaarananu bcs1l janyuvulo utparivartanalaku janyu pareeksha dwara nirdhaarinchavacchu.
epidemiology.
prapanchavyaaptamgaa 50 kante takkuva namodaina kesulato jornstad syndrome chaalaa arudu. 2013loe, raktanaalaala paakistaanii kutumbaaniki chendina aiduguru vyaktulu jornstad syndromtho baadhapadutunnatlu nirdhaarana ayindi. vaaru prati okkaroo vividha sthaayilalo pragatiseela vinikidi lopaanni alaage talapai juttu raladanni anubhavinchaaru. jornstad syndrome unna purushulu kooda takkuva podavunu anubhavinchaaru.
daani autosomal recessive inheritance namuunaanu batti, jornstad syndrome siddhaantaparamgaa purushulu mariyu streelanu samaana sankhyalo prabhaavitam cheyali. ayithe, vaidya saahityamlo purushula kante ekkuva mandhi mahilalu jornstad syndromtho baadhapadutunnatlu nirdhaarana ayindi.