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首页> 外文期刊>Journal of clinical neuroscience: official journal of the Neurosurgical Society of Australasia >Hyperhomocysteinemia and MTHFR C677T homozygosity in a vegetarian male with sinovenous thrombosis of the brain.
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Hyperhomocysteinemia and MTHFR C677T homozygosity in a vegetarian male with sinovenous thrombosis of the brain.

机译：一名患有脑静脉血栓形成的素食男性的高同型半胱氨酸血症和MTHFR C677T纯合性。

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Cerebral sinovenous thrombosis (CVT) is relatively uncommon but potentially life threatening. Risk factors for an unfavorable outcome include male gender, an age older than 37 years, coma, intra-cranial hemorrhage on admission, thrombosis of the deep cerebral venous system, neuroinfection, and malignancy.1 Hyperhomocy-steinemia might be associated with an increased risk of CVT.2-3 Elevated plasma homocysteine may result from genetic defects in the enzymes of homocysteine metabolic pathways or deficiencies of the vitamin cofactors, folate and vitamins B12 or B64 The C677T mutation in the methylenetetrahydrofolate reductase {MTHFR) gene, associated with a thermolabile variant of the enzyme, is the commonest genetic defect associated with mild hyperhomocy-steinemia. People with chronic alcoholism and poor general nutrition, as well as vegetarians, are prone to developing vitamin B deficiencies and elevated plasma homocysteine.5 This is further compounded by genetic mutations. Although clinical and biochemical series have been reported6, reports that describe the associated pathology in the brain are limited.
机译：脑窦静脉血栓形成（CVT）相对少见，但可能危及生命。结果不佳的风险因素包括男性，年龄大于37岁的昏迷，昏迷，入院时颅内出血，深部脑静脉系统血栓形成，神经感染和恶性肿瘤。1高同型性斯坦血症可能与风险增加相关CVT.2-3的血浆同型半胱氨酸升高可能是由于同型半胱氨酸代谢途径酶的遗传缺陷或维生素辅因子，叶酸和维生素B12或B64的缺乏引起的。该酶的变异体，是与轻度高纯血症相关的最常见的遗传缺陷。患有慢性酒精中毒和一般营养不良的人，以及素食者，容易出现维生素B缺乏症和血浆高半胱氨酸水平升高。5基因突变进一步加剧了这种情况。尽管已经报道了临床和生化系列6，但是描述大脑相关病理的报道却很少。

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