Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis最新文献_第3页

Validation of a chromogenic assay to detect factor VIII inhibitors in hemophilia patients on emicizumab. 一种显色测定法在使用半单抗的血友病患者中检测因子VIII抑制剂的验证。

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Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Pub Date : 2026-10-01 Epub Date: 2026-10-09 DOI: 10.1097/MBC.0000000000001450

Ed L Galgo, Kim Drucis, John V Mitsios, Michael B Streiff, Ivo M B Francischetti

引用次数: 0

Coagulation profiles and bleeding tendency in 12 patients with factor X deficiency: first report of a homozygous p.Gln249Pro mutation. 12例因子X缺乏患者的凝血特征和出血倾向：首次报道纯合子p.Gln249Pro突变。

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Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Pub Date : 2026-10-01 Epub Date: 2026-07-28 DOI: 10.1097/MBC.0000000000001445

Jianru Wang, Ning Tang, Weiliang Cao

{"title":"Coagulation profiles and bleeding tendency in 12 patients with factor X deficiency: first report of a homozygous p.Gln249Pro mutation.","authors":"Jianru Wang, Ning Tang, Weiliang Cao","doi":"10.1097/MBC.0000000000001445","DOIUrl":"10.1097/MBC.0000000000001445","url":null,"abstract":"Objective: To analyze the coagulation function and bleeding tendency in 12 patients with Factor X (FX) deficiency.Methods: Activated partial thromboplastin time (APTT), prothrombin time (PT), and FX activity (FX:C) were measured. F10 gene mutations were identified via Sanger sequencing. Clinical data and bleeding tendency were assessed using the ISTH-BAT score.Results: Among the 12 patients, 10 had hereditary FX deficiency and 2 had acquired deficiency. Four patients with FX:C of 40-50% and heterozygous c.746A>C (p.Gln249Pro) mutations had no bleeding tendency. Five patients with F.X:C of 30-50% and heterozygous mutations (c.452G>A, c.871C>T, or c.1252G>A) showed mild bleeding. One patient with severe bleeding (FX:C <1.0%) had a homozygous c.746A>C (p.Gln249Pro) mutation - representing the first global report of this genotype. Two acquired cases had FX:C of 9% and 3%, with mild and moderate-severe bleeding, respectively.Conclusion: Severe bleeding in FX deficiency is associated with FX:C <5%, while milder deficiencies often present minimal symptoms. The novel homozygous p.Gln249Pro mutation causes a severe phenotype, highlighting the importance of genetic diagnosis.","PeriodicalId":520571,"journal":{"name":"Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis","volume":" ","pages":"366-370"},"PeriodicalIF":1.1,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148595229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Exploring the ex vivo effects of Naja mossambica snake venom on the coagulation, ultrastructure and viscoelastic properties of human blood. 探讨莫桑蛇毒液对人血液凝血、超微结构及粘弹性的体外影响。

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Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Pub Date : 2026-10-01 Epub Date: 2026-08-13 DOI: 10.1097/MBC.0000000000001453

Courtney Paige Hill, Christie Megaw, Johan Potgieter, Morné Strydom, Janette Bester

{"title":"Exploring the ex vivo effects of Naja mossambica snake venom on the coagulation, ultrastructure and viscoelastic properties of human blood.","authors":"Courtney Paige Hill, Christie Megaw, Johan Potgieter, Morné Strydom, Janette Bester","doi":"10.1097/MBC.0000000000001453","DOIUrl":"10.1097/MBC.0000000000001453","url":null,"abstract":"Objective: The study explored the ex vivo effects of N. mossambica venom on blood morphology and coagulation.Methods: Human blood was exposed ex vivo to 0.15 ng/μl N. mossambica venom. The 20-WBCT and standard laboratory coagulation assays; prothrombin time, activated partial thromboplastin time, thrombin time and fibrinogen levels were measured to analyze coagulation. Thromboelastography (TEG) was used to evaluate the viscoelastic properties of whole blood. Additionally, scanning electron microscopy (SEM) was performed to analyze red blood cell (RBC) morphology and clot structure.Results: The 20-WBCT revealed a significantly longer clot formation time of venom-exposed samples; however, recorded results were within the accepted reference interval. Venom-exposed samples also showed decreased clot strength and stability. Morphological studies of venom-exposed samples revealed abnormal RBCs with extensive spicules on cell membranes. Furthermore, moderate fibrin fusion was visible in the fibrin network of exposed samples. Lastly, TEG was able to indicate changes in coagulation parameters where the others did not.Conclusion: N. mossambica venom interferes with hemostasis and contributes to RBC membrane instability. The study provides comparisons between laboratory-based and point-of-care coagulation analysis when exposed to N. mossambica venom. Additionally, it demonstrates the valuable insight TEG provides as a point-of-care test in snakebite management.","PeriodicalId":520571,"journal":{"name":"Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis","volume":" ","pages":"314-322"},"PeriodicalIF":1.1,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148727772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Systemic thrombolysis for an intracardiac thrombus in a premature child with a severe diaphragmatic hernia. 系统性溶栓治疗重度膈疝早产儿心内血栓。

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Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Pub Date : 2026-10-01 Epub Date: 2026-08-19 DOI: 10.1097/MBC.0000000000001455

Vladimir L Cousin, Diane Carrière, Luca Pio, Marine Lys, Silvia Foligno, Pierre Tissières, Narjess Ghali

{"title":"Systemic thrombolysis for an intracardiac thrombus in a premature child with a severe diaphragmatic hernia.","authors":"Vladimir L Cousin, Diane Carrière, Luca Pio, Marine Lys, Silvia Foligno, Pierre Tissières, Narjess Ghali","doi":"10.1097/MBC.0000000000001455","DOIUrl":"10.1097/MBC.0000000000001455","url":null,"abstract":"Intracardiac thrombus is a rare but difficult-to-treat complication in premature infants, with limited therapeutic options. If an urgent neonatal surgical procedure is needed, rescue systemic thrombolysis may be considered as an option to hasten thrombus resolution. In the present case, we illustrate the successful lysis of a right ventricle intracardiac thrombus in a premature child prior to a neonatal emergent surgery for a severe congenital diaphragmatic hernia. The 1-day-old premature child with right-sided diaphragmatic hernia contracted preoperatively a right ventricle thrombus in the context of an early-onset septic shock. Systemic low-dose thrombolysis with urokinase (2000 then 3000 U/kg/h) was infused for 6 days with resolution of the thrombus and no immediate or delayed intracranial or postcongenital diaphragmatic hernia hemorrhagic complication, performed 72 h after thrombolysis cessation. Low-dose thrombolysis should be discussed if rapid thrombus resolution is required in case of intracardiac thrombus without thrombectomy option.","PeriodicalId":520571,"journal":{"name":"Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis","volume":" ","pages":"356-358"},"PeriodicalIF":1.1,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148805101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

An unusual case of severe acquired coagulopathy from cancer cachexia-related vitamin K deficiency. 癌症恶病质相关维生素K缺乏引起的严重获得性凝血功能障碍的罕见病例。

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Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Pub Date : 2026-10-01 Epub Date: 2026-07-28 DOI: 10.1097/MBC.0000000000001444

Kavya Balusu, Cher Ying Foo, Peter Kouides

引用次数: 0

Hereditary thrombophilia due to a novel histidine-rich glycoprotein mutation leading to deferral of kidney transplantation: a case report. 遗传性血栓症由于一种新的富含组氨酸的糖蛋白突变导致肾移植延迟：一个病例报告。

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Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Pub Date : 2026-10-01 Epub Date: 2026-09-09 DOI: 10.1097/MBC.0000000000001452

Minzhuan Lin, Bin Wang, QianXing Wu

{"title":"Hereditary thrombophilia due to a novel histidine-rich glycoprotein mutation leading to deferral of kidney transplantation: a case report.","authors":"Minzhuan Lin, Bin Wang, QianXing Wu","doi":"10.1097/MBC.0000000000001452","DOIUrl":"10.1097/MBC.0000000000001452","url":null,"abstract":"Objective: To report a novel pathogenic frameshift mutation in the histidine-rich glycoprotein (HRG) gene causing hereditary thrombophilia, and to discuss its clinical implications for kidney transplantation decision-making.Methods: A 42-year-old female with end-stage renal disease on maintenance hemodialysis presented with recurrent dialysis access thrombosis. Routine coagulation tests were normal, but decreased antithrombin and elevated D-dimer prompted genetic investigation. Whole-exome sequencing was performed to identify potential genetic etiologies.Results: Whole-exome sequencing identified a previously unreported pathogenic frameshift mutation in the HRG gene: c.694delG (p.E232fs). This mutation explained the patient's prothrombotic phenotype. Given the significantly elevated risk of renal allograft thrombosis associated with this condition, a multidisciplinary risk assessment led to deferral of the planned kidney transplantation.Conclusions: This case highlights the critical role of early genetic testing in patients with unexplained recurrent thrombosis. Identifying a novel HRG mutation not only establishes a rare etiology of hereditary thrombophilia but also guides personalized management and high-stakes surgical decisions, such as deferral of organ transplantation to avoid graft loss.","PeriodicalId":520571,"journal":{"name":"Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis","volume":" ","pages":"371-373"},"PeriodicalIF":1.1,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148914828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Comparative effectiveness and safety of apixaban vs. rivaroxaban in patients with cirrhosis and portal vein thrombosis. 阿哌沙班与利伐沙班在肝硬化和门静脉血栓患者中的有效性和安全性比较。

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Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Pub Date : 2026-10-01 Epub Date: 2026-08-06 DOI: 10.1097/MBC.0000000000001446

Lucy S Wang, Adam Cuker, K Rajender Reddy, Ghadeer K Dawwas

{"title":"Comparative effectiveness and safety of apixaban vs. rivaroxaban in patients with cirrhosis and portal vein thrombosis.","authors":"Lucy S Wang, Adam Cuker, K Rajender Reddy, Ghadeer K Dawwas","doi":"10.1097/MBC.0000000000001446","DOIUrl":"10.1097/MBC.0000000000001446","url":null,"abstract":"Background: Portal vein thrombosis (PVT) occurs in ~14% of patients with cirrhosis. Although apixaban and rivaroxaban are increasingly used in this population, comparative data are lacking.Methods: We conducted a retrospective cohort study of adults with cirrhosis and PVT initiating apixaban or rivaroxaban. Propensity score matching (3 : 1) was used to balance baseline characteristics. The effectiveness outcome was a composite of hepatic decompensation or recurrent PVT and the safety outcome was a composite of gastrointestinal or intracranial bleeding. Cox proportional hazard models estimated hazard ratios (HRs).Results: After matching, 312 patients were included (206 apixaban, 106 rivaroxaban). Use of apixaban (vs. rivaroxaban) was associated with similar effectiveness [hazard ratio (HR) 1.01, 95% confidence interval (CI) 0.50-2.06] and lower risk of bleeding (HR 0.62, 95% CI 0.19-2.12), although CI crossed the null value of 1.Conclusions: In this real-world cohort, apixaban and rivaroxaban demonstrated comparable effectiveness, with possible lower bleeding risk with apixaban.","PeriodicalId":520571,"journal":{"name":"Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis","volume":" ","pages":"374-377"},"PeriodicalIF":1.1,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148681593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic characterization of Glanzmann thrombasthenia: insights from novel igta2b mutations in a Tunisian patient cohort. Glanzmann血栓性贫血的遗传特征：来自突尼斯患者队列中新的igta2b突变的见解

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Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Pub Date : 2026-09-01 Epub Date: 2026-06-03 DOI: 10.1097/MBC.0000000000001437

Hajer Elmahmoudi, Nesrine Kerkeni, Temim Deli, Amira Zaier, Kaouther Zahra, Wejden Elborgi, Emna Gouider

{"title":"Genetic characterization of Glanzmann thrombasthenia: insights from novel igta2b mutations in a Tunisian patient cohort.","authors":"Hajer Elmahmoudi, Nesrine Kerkeni, Temim Deli, Amira Zaier, Kaouther Zahra, Wejden Elborgi, Emna Gouider","doi":"10.1097/MBC.0000000000001437","DOIUrl":"10.1097/MBC.0000000000001437","url":null,"abstract":"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 Glanzmann thrombasthenia in a Tunisian cohort. Twelve patients from 11 unrelated families were evaluated using clinical examination, platelet function assays, and comprehensive genetic analysis. Genomic DNA was extracted from peripheral blood, and the entire coding regions along with intron-exon boundaries of ITGA2B were amplified and sequenced via Sanger sequencing. Molecular analysis identified seven likely pathogenic variants in 9 out of 12 patients, including five missense mutations, of which two were novel (p.Tyr221Asp and p.Gly929Trp), one frameshift mutation, and one large deletion spanning exons 19-29. Additionally, three benign variants were detected in five patients, while one patient exhibited no ITGA2B mutation, suggesting a potential defect in ITGB3 . Three previously reported missense variants (p.Gln165His, p.Arg584Gln, and p.Ser957Leu) and an intronic splicing variant (c.2095-22_2095-19del) were also identified. Clinically, patients presented with heterogeneous bleeding phenotypes, predominantly epistaxis and gingival bleeding. Genotype-phenotype correlations underscore that mutation type and location critically influence disease severity. These findings expand the mutational spectrum of ITGA2B and emphasize the need for further functional studies to inform targeted therapies.","PeriodicalId":520571,"journal":{"name":"Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis","volume":" ","pages":"241-249"},"PeriodicalIF":1.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148207492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Alpha-2 antiplasmin deficiency: a rare fibrinolytic disorder identified after decades of diagnostic delay. α -2抗纤溶蛋白缺乏症：一种罕见的纤溶性疾病，诊断延误数十年后才被发现。

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Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Pub Date : 2026-09-01 Epub Date: 2026-06-08 DOI: 10.1097/MBC.0000000000001443

Akshay Mathavan, Akash Mathavan, Urszula Krekora, Stephen Magar, Majed Al-Nazer, Ali Ataya, Carol Mathew, Neil S Harris, Anita Rajasekhar

{"title":"Alpha-2 antiplasmin deficiency: a rare fibrinolytic disorder identified after decades of diagnostic delay.","authors":"Akshay Mathavan, Akash Mathavan, Urszula Krekora, Stephen Magar, Majed Al-Nazer, Ali Ataya, Carol Mathew, Neil S Harris, Anita Rajasekhar","doi":"10.1097/MBC.0000000000001443","DOIUrl":"10.1097/MBC.0000000000001443","url":null,"abstract":"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 plasmin, (ii) blocking plasminogen binding to fibrin, and (iii) undergoing factor XIIIa-mediated cross-linking into fibrin to harden clots against local lysis. We describe a woman with decades of delayed postoperative bleeding, transfusion dependence, and a presumed diagnosis of von Willebrand disease, ultimately found to have congenital α2AP deficiency. Her evaluation showed normal coagulation studies, platelet function, and von Willebrand factor assays, with persistently low α2AP activity and a homozygous SERPINF2 variant confirming the diagnosis. Standard hemostatic panels may fail to detect α2AP deficiency, and testing with functional activity assays or genetic analysis is required. This case highlights diagnostic pitfalls and underscores the importance of considering fibrinolytic disorders in patients with unexplained or delayed bleeding.","PeriodicalId":520571,"journal":{"name":"Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis","volume":" ","pages":"269-278"},"PeriodicalIF":1.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148201886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pampiniform venous plexus thrombosis in a 37 years-old male patient with severe thrombocytosis: a multifactorial aetiology. 伴严重血小板增多症的37岁男性患者潘比尼样静脉丛血栓形成：多因素病因。

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Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Pub Date : 2026-09-01 Epub Date: 2026-06-15 DOI: 10.1097/MBC.0000000000001410

Valeria Filipponi, Marco Antonacci, Luisa Bizzoni, Mario Biglietto, Maria Francesca Conforti, Cristina Santoro, Diletta Tripi, Antonio Chistolini, Stefania Trasarti

{"title":"Pampiniform venous plexus thrombosis in a 37 years-old male patient with severe thrombocytosis: a multifactorial aetiology.","authors":"Valeria Filipponi, Marco Antonacci, Luisa Bizzoni, Mario Biglietto, Maria Francesca Conforti, Cristina Santoro, Diletta Tripi, Antonio Chistolini, Stefania Trasarti","doi":"10.1097/MBC.0000000000001410","DOIUrl":"10.1097/MBC.0000000000001410","url":null,"abstract":"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, acquired disease, as cancer, autoimmune diseases (e.g. systemic lupus erythematosus and APS) or infections [e.g. Cytomegalovirus (CMV) and Epstein-Barr virus (EBV) infections], can trigger such an inflammatory response which lead to thrombocytosis and endothelial injury, thus promoting a hypercoagulability state [2,3] . Among cancers, myeloproliferative disorders are associated to an elevated risk of atypical thrombosis due to the increase in platelets or red blood cell count and the alteration of the balance between pro-coagulant e anticoagulant endothelial factors [4-6] . Other conditions that may predispose to atypical thrombotic events are platelet disfunction or structural abnormalities, chronic vascular diseases, pregnancy and medications. This case highlights the interplay of factors contributing to the development of thrombosis in an unconventional site and underscores the importance of a comprehensive diagnostic approach.","PeriodicalId":520571,"journal":{"name":"Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis","volume":" ","pages":"258-260"},"PeriodicalIF":1.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148261295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0