Pampiniform venous plexus thrombosis in a 37 years-old male patient with severe thrombocytosis: a multifactorial aetiology [0.03%]
37岁严重血小板增多症男性患者附睾静脉丛血栓形成:多因素病因分析
Valeria Filipponi,Marco Antonacci,Luisa Bizzoni et al.
Valeria Filipponi et al.
Atypical thrombosis occurs in unconventional anatomical sites such as splanchnic, renal, gonadal, and cerebral venous vessels [1]. Genetic factors, as inherited thrombophilia could increase the risk of atypical thrombosis. Likewise, acquire...
PROS1 Cys475Tyr mutation associated with a type III protein S deficiency pattern [0.03%]
与III型蛋白S缺乏模式相关的PROS1 Cys475Tyr突变
José A Mejias-Figueroa,Charlotte M Story,Michael B Streiff
José A Mejias-Figueroa
A 35-year-old woman presented with a deep vein thrombosis (DVT) and was diagnosed with protein S deficiency. She was treated with parenteral anticoagulation before switching to a direct oral anticoagulant. She presented to our practice 5 ye...
Dynamic microclot profiling: thromboelastography advances precision management in long COVID and myalgic encephalomyelitis/chronic fatigue syndrome [0.03%]
动态微血凝块谱分析:血栓弹力图在长期新冠和肌痛性脑脊髓炎/慢性疲劳综合症的精准治疗中取得进展
Shafaq Saleem,Ahmad Hussain,Muhammad Haroon et al.
Shafaq Saleem et al.
Long COVID and myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) share overlapping symptoms, and emerging evidence implicates persistent fibrinoid microclots in their pathophysiology, contributing to impaired microcirculation. Thi...
Genetic characterization of Glanzmann thrombasthenia: insights from novel igta2b mutations in a Tunisian patient cohort [0.03%]
Tunisia血小板糖蛋白Ⅱb-Ⅲa异常的基因型与表型分析
Hajer Elmahmoudi,Nesrine Kerkeni,Temim Deli et al.
Hajer Elmahmoudi et al.
Glanzmann thrombasthenia is an inherited platelet disorder resulting from defects in the integrin αIIbβ3 complex due to mutations in the ITGA2B or ITGB3 genes. This study aimed to elucidate the molecular and clinical characteristics of Gl...
Uterine fibroids as an underrecognized risk factor for venous thromboembolism: a narrative review [0.03%]
子宫肌瘤是静脉血栓栓塞的潜在危险因素:叙事性综述
Menna Megahed,Zunaira Zia Shah,Kumail A Razvi et al.
Menna Megahed et al.
Background: Uterine fibroids are a prevalent gynecologic condition traditionally associated with heavy menstrual bleeding and pelvic pressure. However, emerging evidence suggests that large uterine fibroids may also contr...
SEER sonorheometry enhances fibrinolysis detection during liver transplantation with heparin [0.03%]
SEER声频流变仪增强肝移植过程中肝素的纤溶检测
Todd W Allen,Francesco Viola,Kenichi A Tanaka
Todd W Allen
Background: Whole blood viscoelastic tests (VETs) are key for detecting fibrinolysis during orthotopic liver transplantation (OLT). The Quantra System introduces a novel parameter, clot stability to lysis (CSL), for quant...
Alpha-2 antiplasmin deficiency: a rare fibrinolytic disorder identified after decades of diagnostic delay [0.03%]
α-2抗血纤溶酶缺乏症:一种罕见的纤维蛋白溶解障碍,在几十年的诊断延迟后被识别出来
Akshay Mathavan,Akash Mathavan,Urszula Krekora et al.
Akshay Mathavan et al.
Alpha-2 antiplasmin (α2AP) deficiency is a rare fibrinolytic disorder characterized by unregulated plasmin activity and premature clot breakdown. Mechanistically, α2AP restrains fibrinolysis by (i) forming a covalent serpin complex with p...
mRNA expression and methylation rate of two antithrombotic genes, KLF2 and THBD, in patients with ischemic stroke and early onset ischemic stroke in comparison with healthy controls [0.03%]
缺血性卒中和早期发病型缺血性卒中患者KLF2和THBD基因的mRNA表达量及其甲基化率与健康人的对比研究
Zahra Sadat Hosseini,Abdoreza Ghoreishi,Mohammad Reza Ashoori et al.
Zahra Sadat Hosseini et al.
The most common type of stroke is ischemic stroke. Key regulators of thrombosis including KLF2, eNOS, TM and PAI-1 are considered as potential causes in ischemic stroke pathogenesis. This study examined gene expression and DNA methylation s...
A case of congenital thrombotic thrombocytopenic purpura presenting with renal dysfunction in adulthood caused by a novel compound heterozygous ADAMTS13 mutation [0.03%]
成人期首次出现肾功能受损的先天性血栓性血小板减少性紫癜新型复合杂合ADAMTS13基因突变病例报告
Anzi Wang,Dongyun Su,Rong Chen et al.
Anzi Wang et al.
Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive genetic disorder caused by mutations in the ADAMTS13 gene. We report a 36-year-old male cTTP patient with three compound heterozygous mutations. The patient...
Molecular pathogenesis of coexisting type 1 von Willebrand disease caused by gene conversion and severe hemophilia a with F8 intron 22 inversion in a Chinese patient [0.03%]
中国一名患者的联合型1类血管性血友病(由基因转换引起)和F8第22号内含子倒位引起的重型甲型血友病的分子发病机制
Ziyan Wei,Yayun Ling,Yulin Xu et al.
Ziyan Wei et al.
To identify and characterize a case of coexisting von Willebrand disease (VWD) and hemophilia A, and elucidate the underlying genetic mutations and molecular mechanisms. Coagulation function, VWF activity (VWF:Act), and VWF antigen (VWF:Ag)...