D. Y. Andriyashkina, A. Kondrashov, N. Shostak, N. Demidova, D. Yudin, D. Kulakov, G. R. Avetisian
{"title":"斯奈登综合征:一种罕见的诊断","authors":"D. Y. Andriyashkina, A. Kondrashov, N. Shostak, N. Demidova, D. Yudin, D. Kulakov, G. R. Avetisian","doi":"10.47360/1995-4484-2022-630-637","DOIUrl":null,"url":null,"abstract":"The study objective is to demonstrate a rare cause of recurrent acute cerebrovascular diseases in a young patient – Sneddon syndrome. The patient revealed gene polymorphism: homozygous 4G/5G in the plasminogen activator inhibitor-1 (PAI-1) gene, C807T in the glycoprotein I gene (GPIa), T1565C in the glycoprotein III gene (GPIIIa), G1639A in the vitamin K epoxide reductase gene (VKORC1), increased homocysteine, which were risk factors for thrombosis.","PeriodicalId":21518,"journal":{"name":"Rheumatology Science and Practice","volume":"3 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Sneddon syndrome: A rare diagnosis\",\"authors\":\"D. Y. Andriyashkina, A. Kondrashov, N. Shostak, N. Demidova, D. Yudin, D. Kulakov, G. R. Avetisian\",\"doi\":\"10.47360/1995-4484-2022-630-637\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The study objective is to demonstrate a rare cause of recurrent acute cerebrovascular diseases in a young patient – Sneddon syndrome. The patient revealed gene polymorphism: homozygous 4G/5G in the plasminogen activator inhibitor-1 (PAI-1) gene, C807T in the glycoprotein I gene (GPIa), T1565C in the glycoprotein III gene (GPIIIa), G1639A in the vitamin K epoxide reductase gene (VKORC1), increased homocysteine, which were risk factors for thrombosis.\",\"PeriodicalId\":21518,\"journal\":{\"name\":\"Rheumatology Science and Practice\",\"volume\":\"3 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-12-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Rheumatology Science and Practice\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.47360/1995-4484-2022-630-637\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rheumatology Science and Practice","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.47360/1995-4484-2022-630-637","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
The study objective is to demonstrate a rare cause of recurrent acute cerebrovascular diseases in a young patient – Sneddon syndrome. The patient revealed gene polymorphism: homozygous 4G/5G in the plasminogen activator inhibitor-1 (PAI-1) gene, C807T in the glycoprotein I gene (GPIa), T1565C in the glycoprotein III gene (GPIIIa), G1639A in the vitamin K epoxide reductase gene (VKORC1), increased homocysteine, which were risk factors for thrombosis.
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