相关实验视频
Updated: Sep 11, 2025

06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
7.8K
由新型PROS1突变引起的遗传性S蛋白缺乏引起的经常性缺血性中风:一个病例报告
Mei-Ying Huang1, Ning Su1, Ya-Ping Liu2
1Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
BMC neurology
|August 14, 2025
概括
遗传性蛋白S缺乏症 (PSD) 可以导致复发性缺血性中风,即使没有静脉血栓的病史. 早期诊断和抗凝治疗对于有效管理受影响个体的血栓事件至关重要.
科学领域:
- 遗传学和血栓形成的原因
- 神经学和血管医学 神经学和血管医学
背景情况:
- 蛋白S缺乏症 (PSD) 是一种与PROS1基因缺陷相关的遗传性血栓性病.
- 虽然PSD主要导致静脉血栓塞栓症,但也与诸如缺血性中风等动脉事件有关.
- 抗凝剂治疗有时用于患有动脉血栓形成的PSD患者.
研究的目的:
- 突出遗传性S蛋白缺乏症与复发性缺血性中风之间的潜在联系.
- 强调在患有无法解释的动脉血栓症的患者中考虑PSD的重要性.
- 报告在PSD中预防中风的有效抗凝策略.
主要方法:
- 一个患者在11年内多次复发性缺血性中风的案例介绍.
- 诊断工作包括脑MRI揭示缺血性病变和血栓友爱查.
- 基因分析发现了异性PROS1突变,证实了遗传PSD.
主要成果:
- 患者经历了四次缺血性中风,尽管采取了二次预防措施.
- 大脑MRI证实了多个大脑区域的缺血性病变.
- 被诊断出具有特定PROS1突变 (c.1961 C>A) 的遗传性PSD.
- 用克洛皮多格勒和里瓦罗克萨班治疗的疗法被证明是有效的.
结论:
- 在患有复发性缺血性中风和家族血栓形成史的患者中,应该怀疑遗传性PSD.
- 当PSD与缺血性中风事件密切相关时,可以使用抗凝药.
- 这一案例强调了PSD在动脉血栓形成中的作用以及联合抗凝药治疗的疗效.
相关概念视频
Anticoagulant Drugs: Low-Molecular-Weight Heparins
903
Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
903
Peripheral Artery Disease I: Introduction
33
Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
33
The Retinoblastoma Gene
4.2K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.2K
Ischemic Heart Disease: Overview
1.4K
Ischemic heart disease occurs when the heart's blood supply dwindles, causing an ominous lack of oxygen and nutrients. This deficiency, stemming from reduced or obstructed blood flow, spells danger, leading to heart muscle damage and dysfunction.
Atherosclerosis, the primary malefactor, orchestrates this dangerous condition. It manifests as the accumulation of fatty deposits, akin to insidious plaques, within arterial walls. As time elapses, these plaques metamorphose, hardening and...
Atherosclerosis, the primary malefactor, orchestrates this dangerous condition. It manifests as the accumulation of fatty deposits, akin to insidious plaques, within arterial walls. As time elapses, these plaques metamorphose, hardening and...
1.4K
Prosopagnosia
252
Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
252

