Mate i te taumata o te iranga - Joubert syndrome

Ko e me'a fakamamahí, i roto i te noa'tu o te whanaketanga katoa o te rongoā, noho mate rongoa e kore e taea e tatou. Hei tauira, i te mea Joubert syndrome, me te tokomaha noa te ingoa ataahua kahore te mārama tikanga, a ka he te mate iranga o te roro tuarongo e pa ana i te ora, me te hauora o te tangata tenei. Ko, he waimarie mate kino mate ranei e taea te ārai? Pea tino reira te whakaora i te iti rawa ki te tāutu i i te wā wawe ranei? E mohio ana koe ki tetahi mea e pā ana ki te syndrome ngaro? Kia kite a.

He aha te momo o te whakaeke

Na, Joubert syndrome. He aha te mea te reira? Ki te kupu kotahi, te reira te raruraru. Ki te homai e koe he whakautu atu taipitopito, ka taea e tatou te mea e tenei syndrome ko te onge, Waimarie, tahi te mate e hypoplasia ranei te ngaro oti o nga vermis cerebellar te kawenga mō te toenga me te ruruku. Te manawanui painga i hanga kakau roro, a reira kia kia kore romahā, ki runga ki te mutu. kia kite iwi nekehanga rerekē o nga kanohi, me te arero, heke reo uaua. Ko te tātaritanga o taote hoatu i muri i ngā kitenga haumanu, me te tāutu i ngā āhuatanga āhuatanga o te hypoplasia vermis cerebellar, engari ano hoki tona elongation me thickening o nga waewae mua. Kore, e karangatia ana ko te tohu o "titiwha". Tautuhia te pakaru raraunga muri anake MRI rangahau o te roro. Aue, e taea te whakawhiti Joubert syndrome i te kainga tupu.

nga ira

Ki te rā, e rua tekau-tāutuhia irakētanga ira e arahi ki te syndrome kati. Katoa mate e pā ana ko te autosomal mate ngoikore onge āhuatanga e te whanaketanga ki malformations angamaheni, me te ahurei o te roro tuarongo me te roro kakau. Ko te nuku ki mea pathologies Joubert syndrome tahi e hypotension, whanaketanga roa, apnea me mate kanohi. mate maha tamariki ki tenei syndrome i mua i te tātaritanga. Ko te mea anake pai - he nuinga iti o te mate - 1 i roto i te 80,000 te iwi.

mōhiohio hītori

Hoki te wā tuatahi i tāutuhia Joubert syndrome i roto i 1969 e te toketā neave French Mari Zhuber. ruritia ia wha taea'ee tuahine ki apnea, kanohi rerekē, te retardation hinengaro me vermis cerebellar ngaro. I muri i te rapua ako whakahaere mohiotia e tenei momo o te syndrome puta katoa i runga i te ao, kahore rerekētanga iwi, me te matawaka. Haumaru kia te mate i te wā o te whanaketanga o te ira tangata, kia rite ki te whakapono ai e te hapa i roto i te whanaketanga o te roro embryonic arata'i ki te whakakitenga o te syndrome. I roto i te mahi, he maha syndromes ki irakētanga ira i rite tohumate, engari Joubert syndrome wehewehe abnormalities ocular, hypotonia i aruaruraa me disorders romahā.

Tohumate me tohu

Ki te titiro tatou Joubert syndrome, taea te tohu kia takoto i te whakautu neural; faaite te reira i heterogeneity haumanu i roto i ngā rerekētanga rerekē, waimaero hinengaro, fifi ki kupu me hukihuki. Neke atu i te toru o tūroro wheako disorders māna me raruraru whanonga. Varavara, engari tupu te reira e faaite wairoro me kōpako encephalopathy. kitea te hauwhā o te tūroro mate tākihi: displzaii whēwhē, me te congenital kakakīrehe ate. Ka rite ki te iwi ki Down syndrome, he tangata e mate ana i Joubert syndrome kia whai i te āhuatanga stereotypical: mata roa, rae nui, tukemata tairanga tiketike, mangai tapatoru, ihu a Aoraki, kohuki kauae, me taringa iti-whakaturia. Hoki ngā tamariki i reira ko te retardation whanaketanga me te raruraru e haere ana. pūrere Āwhina maha hiahiatia mō te kaupapa.

Me pēhea te ki te hamani

Apii whai koe ki te farii i tika? Ehara i i te katoa, kua homai mua i roto i te iranga tumanako mō te whakapai ake me te maimoatanga o te mate. E tatou ki te tuatahi ako te aamu utuafare, wāhanga matawaka ki te whakahaere i te whakamātautau ki tonu o te manawanui. rapu raruraru manawa aroturuki apnea, tikanga motuhake mō te fariiraa i me te tautoko pūmārō manawa. I te tahi taime te mea e tika wawaotanga neurosurgical me rongoā ki te whakahaere i te haurangi. I roto i te poto, e taea te tukinotia reira ki Joubert syndrome, nga take o nei i ako, ka matau.

Whakaaroa te heke mai

e kore he āhuatanga pera Aue o te iwi e kua kitea Joubert syndrome tenei. kihai i Photos o enei tūroro hoatu tonu te pikitia tino o ratou wheako, me ofi ki koroheketanga puta tohu waho. Ko te tino pono e taea ora i te oraraa motuhake, me te hua etahi, ngā tiaki tautoko i roto i te oranga roa. Me mamae te tangata whakamātautau auau o whēkau katoa, ki te aroturuki i te wātea o raau taero e tika ana. kia whakaatu kohakore waho i roto i kōhikohiko congenital, pērā i ngutu ngatata, polydactyly ranei te hanganga rerekē o te pū māngai. I te tahi taime e kitea ai i te nui rawa o oko toto i roto i te roro. Ko te pono tenei, he poma wa e taea takiri i tetahi meneti. Matapae mō te ora i mua nei tei katoa i runga i te tohu o te whakangaromanga o te roro tuarongo. I roto i te mau parau te tahi atu, kia wheako te manawanui rite te pūkaha iti ranei disorders hinengaro, me ki te farii i te hauātanga, me te noho i roto i te huru taumaha ki kahore tumanako o whakapai ake. Ki tenei syndrome kore e taea te tamariki tautahi mahue ki te kore romahā. I roto i te moe i taea e ratou kowaowaotia noa. Titau auau hauora Taki-ake ki te aroturuki i te mana o te whekau. he mahi pānga painga, me te whakangungu i runga i te whanaketanga o te manawa te oranga o te tamaiti. I roto i taea te whakaaturia te maimoatanga o takahanga hāparapara, rongoa, me te pokanga minimally urutomo.