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Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism:
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《医学前沿(英文)》 2018年 第12卷 第3期 页码 319-323 doi: 10.1007/s11684-017-0553-4
Antithrombin and protein C are two crucial members in the anticoagulant system and play important roles in hemostasis. Mutations in and lead to deficiency or dysfunction of the two proteins, which could result in venous thromboembolism (VTE). Here, we report a Chinese 22-year-old young man who developed recurrent and serious VTE in cerebral veins, visceral veins, and deep veins of the lower extremity. Laboratory tests and direct sequencing of and were conducted for the patient and his family members. Coagulation tests revealed that the patient presented type I antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation c.848_849insGATGT in and a short deletion variant c.572_574delAGA in . This combination of the two mutations was absent in 400 healthy subjects each from southern and northern China. Then, we summarized all the mutations of the and gene reported in the Chinese Han population. This study demonstrates that the combination of antithrombin deficiency and decreased protein C activity can result in severe VTE and that the coexistence of different genetic factors may increase the risk of VTE.
关键词: antithrombin deficiency protein C activity mutation variant venous thromboembolism anticoagulants
《医学前沿(英文)》 2023年 第17卷 第3期 页码 518-526 doi: 10.1007/s11684-022-0958-6
关键词: acute lymphoblastic leukemia child venous thromboembolism epidemiology clinical characteristic risk factor
Clinical and genetic risk factors for venous thromboembolism in Chinese population
Chen WANG PhD, MD, Zhen-Guo ZHAI PhD, MD, Ying H. SHEN PhD, MD, Lan ZHAO PhD, MD,
《医学前沿(英文)》 2010年 第4卷 第1期 页码 29-35 doi: 10.1007/s11684-010-0012-y
关键词: risk factor stroke prothrombin plasminogen activator inhibitor type-1 polymorphism thrombophilia biomarker
Piezoelectric pump with flexible venous valves for active cell transmission
《机械工程前沿(英文)》 2022年 第17卷 第4期 doi: 10.1007/s11465-022-0712-4
关键词: venous valve flexible venous valve cell transmission organ-on-a-chip system piezoelectric device
Classification and treatment of orbital venous malformations: an updated review
Tianyuan Li, Renbing Jia, Xianqun Fan
《医学前沿(英文)》 2019年 第13卷 第5期 页码 547-555 doi: 10.1007/s11684-018-0623-2
关键词: orbit venous malformation treatment sclerotherapy laser embolization
HUA Rong, SUN Yongwei, WU Zhiyong
《医学前沿(英文)》 2008年 第2卷 第3期 页码 244-247 doi: 10.1007/s11684-008-0046-6
Epidemiology, pathogenesis, and management of coronavirus disease 2019-associated stroke
《医学前沿(英文)》 doi: 10.1007/s11684-023-1041-7
关键词: SARS-CoV-2 ischemic stroke stroke hemorrhagic stroke cerebral venous thrombosis vaccination
《医学前沿(英文)》 doi: 10.1007/s11684-023-1014-x
关键词: veno-venous extracorporeal membrane oxygenation in-hospital mortality high-volume centers quality control intensive care unit capacity parameters
标题 作者 时间 类型 操作
Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism:
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期刊论文
Venous thromboembolism in children with acute lymphoblastic leukemia in China: a report from the Chinese
期刊论文
Clinical and genetic risk factors for venous thromboembolism in Chinese population
Chen WANG PhD, MD, Zhen-Guo ZHAI PhD, MD, Ying H. SHEN PhD, MD, Lan ZHAO PhD, MD,
期刊论文
Classification and treatment of orbital venous malformations: an updated review
Tianyuan Li, Renbing Jia, Xianqun Fan
期刊论文
Effects of combined procedure and devascularization alone on hyperdynamics of the portal venous system
HUA Rong, SUN Yongwei, WU Zhiyong
期刊论文