Blood Coagulation & Fibrinolysis最新文献_第5页

A novel SERPINC1 c.119G>A (p.Cys40Tyr) mutation with variable clinical expression in an Indian family. 一个印度家庭中出现的临床表现各异的新型 SERPINC1 c.119G>A (p.Cys40Tyr) 突变。

IF 1.2 4区医学

Blood Coagulation & Fibrinolysis Pub Date : 2024-11-04 DOI: 10.1097/MBC.0000000000001333

Kranti Patil, Asha Shah, Gurpreet Saini, Shreyas Tawde, Shruti Kharat, Fiza Jivani, Aniket Kamble, Shrimati Shetty

引用次数: 0

A novel γ-chain mutation p.Asp318His in a Chinese family with dysfibrinogenemia. 一个中国纤维蛋白原不良血症家族的新型γ-链突变 p.Asp318His

IF 1.2 4区医学

Blood Coagulation & Fibrinolysis Pub Date : 2024-10-25 DOI: 10.1097/MBC.0000000000001329

Haiyue Zhang, Weifeng Shen

{"title":"A novel γ-chain mutation p.Asp318His in a Chinese family with dysfibrinogenemia.","authors":"Haiyue Zhang, Weifeng Shen","doi":"10.1097/MBC.0000000000001329","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001329","url":null,"abstract":"Background: Congenital dysfibrinogenemia is characterized by reduced fibrinogen activity, but normal immunoreactive fibrinogen levels. Here, we present a novel case with an elevated risk of thrombosis.Methods: Coagulation assays, gene analysis, in silico tools, sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE), fibrin polymerization, thrombin generation assay, and electron microscopy scanning were utilized to elucidate the pathogenic mechanism.Results: The proband manifested with a normal immunologic fibrinogen (2.13 g/l) but reduced functional fibrinogen (0.39 g/l). Subsequent genetic analysis unveiled a novel heterozygous mutation, c.1030G>C (p.Asp318His), in the γ-chain D domain of fibrinogen, which was highly conserved in homologous species and led to enhanced thrombin generation capability. The ability of the proband's fibrinogen to polymerize was significantly impaired, with decreased final turbidity. Scanning electron microscopy indicated that the fibers of the proband were thinner than normal, with smaller pores. Thromboelastography (TEG) results demonstrated prolonged K time, decreased angle value, and a normal confidence interval value in the proband.Conclusion: We present a novel case displaying the γAsp318His mutation, which resulted in dysfibrinogenemia.","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Severe acquired Factor VII deficiency complicating an aplastic anemia, successfully treated with corticosteroids. 严重的获得性因子 VII 缺乏症并发再生障碍性贫血，使用皮质类固醇治疗成功。

IF 1.2 4区医学

Blood Coagulation & Fibrinolysis Pub Date : 2024-10-01 Epub Date: 2024-09-20 DOI: 10.1097/MBC.0000000000001323

Romain Batton, Chamouni Pierre, Marion Carrette, Sauvêtre Gaëtan, Virginie Barbay

引用次数: 0

Reliability of generative artificial intelligence in identifying the major risk factors for venous thrombosis. 生成式人工智能识别静脉血栓形成主要危险因素的可靠性。

IF 1.2 4区医学

Blood Coagulation & Fibrinolysis Pub Date : 2024-10-01 Epub Date: 2024-10-11 DOI: 10.1097/MBC.0000000000001322

Giuseppe Lippi, Camilla Mattiuzzi, Emmanuel J Favaloro

引用次数: 0

Protein S contributes to the paradoxical increase in thrombin generation by low-dose dabigatran in the presence of thrombomodulin. 在血栓调节蛋白存在的情况下，低剂量达比加群会增加凝血酶的生成，而蛋白 S 对这一矛盾现象起了作用。

IF 1.2 4区医学

Blood Coagulation & Fibrinolysis Pub Date : 2024-10-01 Epub Date: 2024-08-22 DOI: 10.1097/MBC.0000000000001320

Chi Zhang, Weixiang Chen, Yue Zhang, Tingbo Jiang

{"title":"Protein S contributes to the paradoxical increase in thrombin generation by low-dose dabigatran in the presence of thrombomodulin.","authors":"Chi Zhang, Weixiang Chen, Yue Zhang, Tingbo Jiang","doi":"10.1097/MBC.0000000000001320","DOIUrl":"10.1097/MBC.0000000000001320","url":null,"abstract":"Low dose of dabigatran paradoxically increased thrombin generation through inhibition of protein C activation. Protein S is a co-factor in the activation of protein C. However, the role of protein S in the enhancement of thrombin generation has not been addressed. Firstly, we measured thrombin generation by calibrated automated thrombinography (CAT) and prothrombin fragments 1+2 (F 1+2 ) assays. Secondly, we assessed activated protein C (APC) formation in normal or protein S-deficient plasma spiking with dabigatran. Then, protein C activation was measured. Finally, heavy chain of factor Va (FVa) and its degradation products were detected by western blot. CAT assay showed that 70-141 ng/ml dabigatran paradoxically increased thrombin generation in normal plasma. However, higher concentrations of dabigatran (283 ng/ml) suppressed the level of ETP. F 1+2 assay showed the similar results. In protein S-deficient or protein C-deficient plasma, the paradoxical increase in thrombin generation was absent. Level of generated APC was to a similar extent inhibited by dabigatran in normal and protein S-deficient plasma. Low-dose dabigatran inhibited the protein S-dependent inactivation of factor Va. Protein S participated in the paradoxical enhancement of thrombin generation in normal plasma spiking with low concentrations of dabigatran. Increased thrombin generation at low dabigatran can be explained by reduced thrombin-thrombomodulin mediated APC formation and subsequent reduced FVa inactivation that is protein S-dependent.","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":"334-339"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462877/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142153118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Improved prevention of bleeding episodes with emicizumab in 3 patients with concomitant hemophilia A and von Willebrand disease. 埃米珠单抗能有效预防 3 名同时患有血友病 A 和冯-威廉氏病的患者的出血发作。

IF 1.2 4区医学

Blood Coagulation & Fibrinolysis Pub Date : 2024-10-01 Epub Date: 2024-09-04 DOI: 10.1097/MBC.0000000000001324

Kristin T Ansteatt, Jonathan C Roberts, Jackie M Helms, Michael D Tarantino

{"title":"Improved prevention of bleeding episodes with emicizumab in 3 patients with concomitant hemophilia A and von Willebrand disease.","authors":"Kristin T Ansteatt, Jonathan C Roberts, Jackie M Helms, Michael D Tarantino","doi":"10.1097/MBC.0000000000001324","DOIUrl":"10.1097/MBC.0000000000001324","url":null,"abstract":"The typical phenotype of hemophilia A (HA) is that of frequent bleeding episodes, up to several per month, unless prophylactic factor VIII (FVIII) replacement or alternatives are given. Related bleeding may be heightened in severity or frequency by co-morbid bleeding disorders. Based on the reported prevalence of von Willebrand disease (VWD) of up to 1% of the general population, the co-existence of HA and VWD occurs, but is likely less recognized. Prophylactic FVIII replacement may or may not adequately prevent bleeding in persons with HA and mild VWD, and plasma-derived concentrates containing FVIII and von Willebrand factor (VWF) may be used for more successful bleeding prophylaxis. However, therapy adherence remains problematic for many reasons, one being treatment via intravenous access. Emicizumab is a nonfactor subcutaneous prophylactic therapy for HA that may overcome this concern. We describe three patients, with severe HA and VWD, for whom regular FVIII/VWF prophylaxis was deemed inadequate. FVIII/VWF prophylaxis was replaced with weekly prophylactic injections of the bispecific monoclonal antibody, emicizumab. When the patients were transitioned to emicizumab, all experienced a significant reduction in their annualized bleed rate (ABR). Although the mechanism of action does not directly affect or replace VWF function, emicizumab may be an effective prophylaxis alternative to FVIII/VWF concentrate in patients with concomitant severe HA and VWD.","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":"340-344"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142153117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Venous thromboembolism secondary prophylaxis in elderly people (over 75-year-old) with low-dose direct oral anticoagulants: single-center Italian experience. 老年人（75岁以上）使用低剂量直接口服抗凝剂的静脉血栓栓塞二级预防：意大利单中心经验

IF 1.2 4区医学

Blood Coagulation & Fibrinolysis Pub Date : 2024-10-01 Epub Date: 2024-10-11 DOI: 10.1097/MBC.0000000000001321

Alessandro Laganà, Ludovica Fucci, Silvia Sorella, Cristina Santoro, Antonio Chistolini

{"title":"Venous thromboembolism secondary prophylaxis in elderly people (over 75-year-old) with low-dose direct oral anticoagulants: single-center Italian experience.","authors":"Alessandro Laganà, Ludovica Fucci, Silvia Sorella, Cristina Santoro, Antonio Chistolini","doi":"10.1097/MBC.0000000000001321","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001321","url":null,"abstract":"Nowadays, direct oral anticoagulants (DOACs) represent the gold standard for venous thromboembolism (VTE) treatment and VTE secondary prophylaxis; nevertheless, the percentage of elderly patients in major trials and literature data about DOACs usage for VTE secondary prophylaxis in the elderly are scant. Our retrospective study tried to evaluate low-dose DOACs efficacy and safety for elderly VTE secondary prophylaxis in a real-life setting. A cohort of 73 patients (≥ 75 years) considered at high risk of VTE recurrence was treated with apixaban 2.5 mg twice daily (b.i.d.) or rivaroxaban 10 mg daily as VTE secondary prophylaxis. The median low-dose DOACs administration time was 18.40 months. Three (4.1%) VTE recurrence events were observed, with four bleeding events registered (5.5%), including one major bleeding (MB) (1.4%) and two clinically relevant non major bleeding (CRNMB) (2.7%). Our data suggest that low-dose DOACs may be effective and well tolerated for secondary VTE prophylaxis in elderly patients at high risk of VTE recurrence.","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":"35 7","pages":"349-354"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The role of factor XIII in patient blood management. XIII 因子在患者血液管理中的作用。

IF 1.2 4区医学

Blood Coagulation & Fibrinolysis Pub Date : 2024-10-01 Epub Date: 2024-09-30 DOI: 10.1097/MBC.0000000000001326

Miodrag Žunić, Nino Vreča, Sebastjan Bevc

引用次数: 0

Cancer-associated thrombosis: the role of inherited thrombophilia. 癌症相关血栓形成：遗传性血栓性疾病的作用。

IF 1.2 4区医学

Blood Coagulation & Fibrinolysis Pub Date : 2024-09-01 Epub Date: 2024-07-26 DOI: 10.1097/MBC.0000000000001317

Anita Zia, Mahmood Shams, Ali Dabbagh, Milad Shahsavari, Akbar Dorgalaleh

引用次数: 0

Identification of HLA alleles involved in immune thrombotic thrombocytopenic purpura patients from Turkey. 土耳其免疫性血栓性血小板减少性紫癜患者的 HLA 等位基因鉴定。

IF 1.2 4区医学

Blood Coagulation & Fibrinolysis Pub Date : 2024-09-01 Epub Date: 2024-07-24 DOI: 10.1097/MBC.0000000000001318

Cevat İlteriş Kikili, Demet Kivanç, Damla Ortaboz, Hayriye Şentürk Çiftçi, Mustafa Murat Özbalak, Mustafa Nuri Yenerel, Meliha Nalçaci, Muhlis Cem Ar, Fatma Savran Oğuz, Sevgi Kalayoğlu Beşişik

{"title":"Identification of HLA alleles involved in immune thrombotic thrombocytopenic purpura patients from Turkey.","authors":"Cevat İlteriş Kikili, Demet Kivanç, Damla Ortaboz, Hayriye Şentürk Çiftçi, Mustafa Murat Özbalak, Mustafa Nuri Yenerel, Meliha Nalçaci, Muhlis Cem Ar, Fatma Savran Oğuz, Sevgi Kalayoğlu Beşişik","doi":"10.1097/MBC.0000000000001318","DOIUrl":"10.1097/MBC.0000000000001318","url":null,"abstract":"Thrombotic thrombocytopenic purpura (TTP) is one of the rare group disorders classified as thrombotic microangiopathies (TMAs). Approximately 90% of TTP developed immune-mediation by the formation of antibodies against the enzyme ADAMTS-13. The exact cause is unknown. To establish an association between human leukocyte antigen (HLA) and autoimmune basis, as susceptibility or protection against the disease, we contributed a study aiming to evaluate the role of HLA in immune-mediated TTP (iTTP). Considering epidemiological factors such as age, sex, ethnicity, and geographical origins, we contributed the study in our country, Turkey, which consist of a very heterogeneous population. Patients' data collection was retrospectively from electronic database on two University hospitals having big therapeutic apheresis service. Control arm was healthy people registered as stem cell donors matched in terms of age and sex. The frequency of HLA-DRB1 and HLA-DQB1 alleles between acquired TTP and the control group was compared using the chi-square method. Yates correction and logistic regression were performed on these results. A total of 75 iTTP patients and 150 healthy individuals enrolled to the study. HLA-DRB1∗11, HLA-DQB1∗03, HLA-DRB1∗11:01, HLA-DRB1∗14:01, HLA-DRB1∗13:05, HLA-DRB1∗11 + HLA-DQB1∗03 allele pair and HLA-DRB1∗15 + HLA- DQB1∗06 were proved to be susceptibility allele pairs for iTTP. HLA-DRB1∗15, HLA-DRB1∗01:01, HLA-DRB1∗07:01, HLA-DRB1∗13:01, HLA-DRB1∗14:54, HLA-DQB1∗05:01, HLA-DQB1∗02:02 and HLA-DRB1∗07 + HLA-DQB1∗02 allele pair were found to be protective against iTTP. Our findings support an association with iTTP across very heterogenous populations in Turkey.","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":"307-315"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141854671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0