Syndrome X pakarukaru: tohu, tohu me te maimoatanga talena

Kua whakaaetia e te whanaketanga tere o nāianei o te rongoa e fa'ahinga ki te whakatuwhera i te rota o mate i mua unknown. O te faufaa ngā i roto i te rau tau rua tekau takaro he tuhinga o te waehere ira, i hanga reira taea ki te tautuhi i te take o maha abnormalities ira me te pūira. He neke atu i te 3000 mate e pā ana ki ngā huringa ine, me te kounga i roto i te rauemi ira. He mate āhua hou he pakarukaru X Syndrome, e kua he ōrau tika tiketike o te hauātanga tamaiti.

mate Martin Bella - he syndrome te whakararuraru, neurological ranei?

Syndrome X he pakarukaru - pīari congenital e pā ana ki te fragility o te pūira X. Ko te ariā o "fragility" e pā ana ki te whāiti koi o te mutunga ataata o te pūira X. Taua huringa whakau Syndrome X pakarukaru. Photos o ngā tamariki i mahue tohu te backlog o te whanaketanga whakamātau tinana, e whangai ana ki te ahunga whakamua i te kōhungahunga.

take

Ka rite ki mohiotia te, he OK te tohuira tangata - te reira 46 pūira, e rua o nei - te X sex me Y. I roto i nga wahine, aua, ka titiro i te huinga pūira rite - 46 XX, me nga tangata - 46 HU. Enei kawe o ngā mōhiohio ā-ira ngā o te mekameka waikawa amino o aua, i whakatakotoria te mōhiohio e pā ana ki te hanganga me ngā mahi o te heke mai o te rauropi ora.

Mate Martin Bella (pakarukaru X-pūira) whakawhanake tika ki huringa i roto i te pūira X, kia taea kino ia i te reira e rua wahine me te tangata. Thinning wahi X- pūira tika ki te hua pathological i roto i te toenga waikawa amino motuhake o tāruaruatanga - cytosine-guanine-guanine (C-G-T). Tenei huinga o haeretia reira e rave rahi taime i roto i te tahi atu ira, engari he mea nui, i roto i te meka, te maha o aua. Tikanga pae reira i 29 ki te 31. I roto i te take o Martin-Bell Syndrome taua nui kei te koi nui haere a kia tūpono i 230 ki te 4000 nga wa, e arata'i ki te hua i roto i te pūira me te ira mahi waimaero motuhake - FMR1, i te kawenga mō te mahi tika, me te whanaketanga o te io pūnaha. He kitea te hua i muri i te wa poto i muri i whanau, me te te whakakitea whakamātau tinana retardation.

kōwhiringa whakaaturanga

Ko te maha o aua cytosine-guanine-guanine ai ngā taatou o mate haumanu Martin-Bell. kia whai puka huna te syndrome. Ki te heheu te ako 55 ki te 200 tāruaruatanga, i reira premutation - huringa rohe e hanga he tangata hei kawe, engari kahore huringa kitea o te pūnaha io. I roto i te tau pakeke, me te koroheke taea whakawhanake syndrome ataxic me kore ovarian tuatahi i roto i nga wahine. Ko te tūponotanga o te tuku o te syndrome he tiketike. E hoki Funds he kāwanatanga takawaenga - he 40 ki te 60 tāruaruatanga nucleotide, e hauora kore whakakitea riro e taea puta i roto i te torutoru whakatupuranga.

mana whakahaere

kawe Genetics te mate ki te rōpū o pathologies, sex-hono, e ko, ki te pūira X. I roto i te tangata, faaite atu me te ake mārama te mate iho, rite ratou tohuira kei kotahi pūira X. whakawhanake māuiuitanga Women i roto i te take o e rua "pathological" X-autosomes. Tino uaua, ka taea e nga tangata premutatsionny kōwhiringa me te kawe. He tino wahine pea atu ki te mahi i te mana pere, me haere "pathological" pūira ki rite tūponotanga mō rua tamahine, me tama hoki. Ka taea e papa mate tuku X-pūira anake tamahine. Kainga syndrome āta faarahi i whakatupuranga ki whakatupuranga, e ka mohiotia rite te lēsoni Sherman. Ko nui taimaha ake i taua o nga tangata te akoranga haumanu o te syndrome.

tohu

Pakarukaru X Syndrome, e kore ai nga tohu o e rite tūāwhiotanga, tonu kia wa ki te mohio ki te ara tākuta tamariki mātanga toketā neave ranei.

kia rerekē te pikitia haumanu i runga i te maha o aua o C-TT rānei.

I roto i te putanga matarohia o te whakamātau tinana retardation tohu pea Syndrome pakarukaru X. Whakaahua o te tamaiti e āhei ki a koutou e kite i te tohu āhuatanga tuatahi o te mate. He he whakama, me te discoordination nekehanga, whakawhanake uaua ngoikore. Tino maha, mamae tamariki i te autism. I te whakamātautau, heheu te toketā neave tauwhatinga o te karere oculomotor , me etahi ine i roto i te roro. Ki te tau, kua hë te āhuatanga, āta piki haere tauira o te retardation hinengaro.

Wā katoa e disorders hinengaro hakari: maha e karanga nui he tamaiti, whakaaturanga roa ho'i i pukana a maha pakipaki ona ringa, i ētahi wā whakatoatoa rawa fefeka. Taua tohu ahua rite ki te tuakoi. Ko tētahi atu kōwhiringa ki te tūāwhiotanga, i anga ki te whakawhanake i roto i te kōhungahunga.

Syndrome X pakarukaru: tohumate

He āhuatanga motuhake o te mau tamaroa, ko ki ake i te rahi o te komurumurua (makroorhizm), engari e taea te kitea i te reira anake i roto i te tino. I roto i tenei take, he mea motu tetahi mate endocrine.

Huri o ahua e ngā kore motuhake-, engari kia kanohi i te tākuta ki te kitea te tātaritanga tika. Ko maha te tamaiti he matenga nui, kanohi roa, me te paku kōpiko matamata rostral o te ihu. He whai āhuatanga nui me matimati, maihao i te tino nui haere ngā o nekehanga. E mea pinepine, te kiri he elasticity tiketike.

kē o te mate faaiteraa premutatsionnogo i etahi āhuatanga. Hoki syndrome ataxia āhuatanga e faaati me mahara waimaero, wā-poto tino, i reira e huringa o te tūāhua me te whanaketanga āta o tupu ki te heke o ngā mahi hinengaro (te ngoikore ki te pānui i me te matau i te korero). whakawhanake ake pinepine tohutanga i roto i nga tangata kawe me te he akoranga nui atu kino atu i te wahine.

kore ovarian Paraimere āhuatanga e te ahua o te menopause taimi halá, me whakapōrearea te mahi o te pūnaha, "te rapae o-ovarian". faarahi Ihirangi ruahuru taiki whakaihiihi, ārahi ki te ahua me te ngaro o ngā tohu paheke vegetative. kauneke te mate āta me rapu utu taiaki whakakapinga therapy.

Me pēhea te ki te tātari i te syndrome

Hoki te faaotiraa āwhiwhiwhi o te mate i roto i te tīmatanga o te tamaiti tikanga cytogenetic tika. Puta i te reira taiepa manawanui rauemi pūtau me te V₁₀ huaora tapiritia (waikawa folic) rite te huringa provocateur i roto i pūira. I muri i te tahi mau wa, heheu te ako i te pūira ki hahore nui, e tohu ana e te mate Martin-Bell, pakarukaru-X syndrome. e kore te mea feunga tika i te wāhanga i muri mai i tēnei tikanga taiwhanga whakamātautau, e tika ana ki te whakamahi whānui o multivitamins, e ngā waikawa folic.

Ko reira tino motuhake tauhohenga polymerase chain (PCR), e taea ana ki te kīa te hanganga o nga toenga waikawa amino i roto i te pūira X me tohu te he pakarukaru X Syndrome. Whakaahua hanga e te karu whārahi irahiko, whakaatu ana te pae o te thinning autosomes.

He motuhake, ahua tonu atu tauwhāiti ko te huinga o PCR ki te rapunga i roto i capillary electrophoresis. Tenei whakamātau tika kitea abnormalities pūira i roto i te tūroro ki te syndrome ataxic me iti hoki ovarian tuatahi.

maimoatanga

I muri i te PCR, me te tātaritanga o "pakarukaru X Syndrome", kia timata rite wawe tonu maimoatanga.

Mai te mea congenital te mate, me te kua he takenga pūira, heke therapy te ki te hiki i te tohu nui o te mate.

kaupapa haumanu e hāngai ana whakaiti faaiteraa whakamātau tinana retardation, huringa i roto i te ako syndrome ataxic me te tautoko hormonal mō te kore ovarian tuatahi.

Tamariki ki te retardation hinengaro me te hua whakapumautia o PCR tātari "pakarukaru X Syndrome". He Russia kahore whakaurunga hauora, te wahi i te whakanohonoho o enei tamariki, na kua ki te maimoatanga kua he tākuta tamariki me ngaio e pā ana. Tonu kia tuhia te reira e te maimoatanga o ngā tamariki atu tōtika atu i te pakeke. Ko te tikanga o te hinengaro wā therapy whanonga ki te tākuta i runga i te pūtake takitahi, mahi, ngā momo marama o stimulants. He au āhua hou ko te whakamahi o teuteu e hāngai ana i runga i te waikawa folic, engari ako hua atu tawhiti.

therapy Pakeke rata ngā stimulants me pōuritanga, kua puritia aroturuki hihiri tamau e te tākuta, me te kaimātai hinengaro. I roto i te haumanu tūmataiti kawe i te faaineineraa wā microinjection "te aau" me ona pärönaki, cytomedines (rongoa "Lidaza", "Solkoseril").

A, no te nootropics whakamahia ataxic syndrome me te toto thinners, angioprotectors me ranunga o ngā waikawa amino. kore ovarian Paraimere i roto i nga wahine estrogens me rongoā he kaupapa ki te ako.

Ko ngā iti te whai huatanga o te maimoatanga, engari ka taea hoki etahi wa ki te pōturi iho ahunga whakamua o te mate.

ārai

Ko te ara anake o te ārai e tātari wahine hapu. I roto i te whakawhanakehia
whenua whakaurua he rangahau e taea kitea Syndrome X pakarukaru i te wā wawe, me te ki te whakamutu i te hapūtanga. Ko tētahi rerekē ahua i roto i te kikiritanga vitro, e kia whai wāhi ki te whakarite i riro te tamaiti te heke mai "hauora" X pūira.