Hamostaseologie最新文献_第9页

Update on Thrombosis Risk in Patients with Cancer: Focus on Novel Anticancer Immunotherapies. 癌症患者血栓风险的最新情况：关注新型抗癌免疫疗法。

IF 3.2 4区医学

Hamostaseologie Pub Date : 2024-02-01 Epub Date: 2024-01-08 DOI: 10.1055/a-2215-9909

Florian Moik, Jakob M Riedl, Cornelia Englisch, Cihan Ay

{"title":"Update on Thrombosis Risk in Patients with Cancer: Focus on Novel Anticancer Immunotherapies.","authors":"Florian Moik, Jakob M Riedl, Cornelia Englisch, Cihan Ay","doi":"10.1055/a-2215-9909","DOIUrl":"10.1055/a-2215-9909","url":null,"abstract":"Thromboembolic complications, including venous thromboembolism (VTE) and arterial thromboembolism (ATE), increase mortality and morbidity, and delay treatment in patients with cancer. Therefore, an increased understanding of underlying risk profiles, the identification of risk factors and predictive biomarkers, and ultimately the development of specific cardiovascular prevention strategies in patients with cancer is needed. Medical anticancer therapies have undergone a remarkable development in recent years with the advent of targeted and immunotherapeutic treatment options, including immune checkpoint inhibitors (ICI), chimeric antigen receptor (CAR) T-cell therapies and bispecific T-cell engagers (BiTEs). These developments have important implications for the accompanied risk of thromboembolic events in patients with cancer. First, the increased use of these highly effective therapies renders a growing proportion of patients with cancer at risk of thromboembolic events for a prolonged risk period due to an increase in patient survival despite advanced cancer stages. Second, potential direct cardiovascular toxicity and prothrombotic effect of novel anticancer immunotherapies are a matter of ongoing debate, with emerging reports suggesting a relevant risk of VTE and ATE associated with ICI, and relevant dysregulations of hemostasis in the frequently observed cytokine-release syndrome associated with BiTEs and CAR T-cell therapy. The aim of the present narrative review is to summarize the implications of the emerging use of anticancer immunotherapy for thromboembolic events in patients with cancer, and to provide an overview of available data on the rates and risk factors for VTE and ATE associated with ICI, CAR T-cell therapy, and BiTEs.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"40-48"},"PeriodicalIF":3.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139405365","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

100 Years of Thrombotic Thrombocytopenic Purpura: A Story of Death and Life. 血栓性血小板减少性紫癜 100 年：死亡与生命的故事》。

IF 3.2 4区医学

Hamostaseologie Pub Date : 2024-02-01 Epub Date: 2024-02-28 DOI: 10.1055/a-2223-9484

Bernhard Lämmle, Karen Vanhoorelbeke, Johanna A Kremer Hovinga, Paul Knöbl

引用次数: 0

Clonal Hematopoiesis and Cardiovascular Risk: Atherosclerosis, Thrombosis, and beyond. 克隆性造血与心血管风险：动脉粥样硬化、血栓形成及其他。

IF 3.2 4区医学

Hamostaseologie Pub Date : 2024-02-01 Epub Date: 2024-02-28 DOI: 10.1055/a-2219-6410

Benedetta Izzi, José J Fuster

引用次数: 0

Vakzin-induzierte Immunthrombozytopenie und Thrombose: Langfristiger Outcome. 疫苗引起的免疫性血小板减少症和血栓形成：长期结果

IF 3.2 4区医学

Hamostaseologie Pub Date : 2024-02-01 Epub Date: 2024-02-28 DOI: 10.1055/s-0044-1782593

引用次数: 0

PAS: Die Rolle von Natriumcitrat bei längerer Kaltlagerung von Thrombozyten. PAS：柠檬酸钠在血小板长期冷藏中的作用。

IF 3.2 4区医学

Hamostaseologie Pub Date : 2024-02-01 Epub Date: 2024-02-28 DOI: 10.1055/s-0044-1782595

引用次数: 0

The Concept of Thromboinflammation. 血栓性炎症的概念。

IF 2.7 4区医学

Hamostaseologie Pub Date : 2024-02-01 Epub Date: 2024-02-28 DOI: 10.1055/a-2178-6491

Waltraud C Schrottmaier, Alice Assinger

引用次数: 0

Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations. 由复合杂合突变导致的两个中国家庭遗传性凝血因子 V 缺乏症的基因分析

IF 3.2 4区医学

Hamostaseologie Pub Date : 2023-12-01 Epub Date: 2023-06-15 DOI: 10.1055/a-2086-4328

Yuan Chen, Ke Zhang, Yanhui Jin, Manlin Zeng, Kaiqi Jia, Lihong Yang, Mingshan Wang

{"title":"Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations.","authors":"Yuan Chen, Ke Zhang, Yanhui Jin, Manlin Zeng, Kaiqi Jia, Lihong Yang, Mingshan Wang","doi":"10.1055/a-2086-4328","DOIUrl":"10.1055/a-2086-4328","url":null,"abstract":"Objective: This study aims to provide a preliminary discussion of the molecular basis of FV deficiency caused by compound heterozygous mutations in two Chinese families.Methods: Relative coagulation index was measured by the one-stage clotting method and the FV:Ag was measured by ELISA. All exons and flanking regions of the F5 gene were amplified by PCR and directly sequenced. ClustalX-2.1-win was used to analyze the conservation of mutations. The online software was used to predict the pathogenicity of mutations. PyMOL was used to analyze the variation in the spatial structure of the FV protein before and after mutations. Calibrated automated thrombogram was used to analyze the function of the mutant protein.Results: Phenotyping suggested that both probands had a simultaneous decrease in FV:C and FV:Ag. Their genetic tests showed that proband A had a missense mutation p.Ser111Ile in exon 3 and a polymorphism p.Arg2222Gly in exon 25. At the same time, the proband B had a missense mutation p.Asp96His in exon 3 and a frame-shift mutation p.Pro798Leufs*13 in exon 13. Meanwhile, the p.Ser111Ile is conserved among homologous species. The bioinformatics and protein model analysis revealed that p.Ser111Ile and p.Pro798Leufs*13 were pathogenic and could affect the structure of the FV protein. The thrombin generation test revealed that the clotting function of proband A and B had been affected.Conclusion: These four mutations may be responsible for the reduction of FV levels in two Chinese families. Moreover, the p.Ser111Ile mutation is a novel pathogenic variant that has not been reported.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"418-425"},"PeriodicalIF":3.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9642940","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

A Novel Fibrinogen Mutation p.BβAla68Asp Causes an Inherited Dysfibrinogenemia. 新型纤维蛋白原突变 p.BβAla68Asp 导致遗传性纤维蛋白原不良血症。

IF 3.2 4区医学

Hamostaseologie Pub Date : 2023-12-01 Epub Date: 2023-07-29 DOI: 10.1055/a-2116-8957

Kaiqi Jia, Manlin Zeng, Xiaoyong Zheng, Haixiao Xie, Lihong Yang, Yaosheng Xie, Mingshan Wang

{"title":"A Novel Fibrinogen Mutation p.BβAla68Asp Causes an Inherited Dysfibrinogenemia.","authors":"Kaiqi Jia, Manlin Zeng, Xiaoyong Zheng, Haixiao Xie, Lihong Yang, Yaosheng Xie, Mingshan Wang","doi":"10.1055/a-2116-8957","DOIUrl":"10.1055/a-2116-8957","url":null,"abstract":"Objective: Our study aimed to analyze the phenotype and genotype of a pedigree with inherited dysfibrinogenemia, and preliminarily elucidate the probable pathogenesis.Methods: The one-stage clotting method was used to test the fibrinogen activity (FIB:C), whereas immunoturbidimetry was performed to quantify the fibrinogen antigen (FIB:Ag). Furthermore, DNA sequence analysis was conducted to confirm the site of mutation. Conservation analysis and protein model analysis were performed using online bioinformatics software.Results: The FIB:C and FIB:Ag of the proband were 1.28 and 2.20 g/L, respectively. Gene analysis revealed a heterozygous c.293C > A (p.BβAla68Asp) mutation in FGB. Bioinformatics and modeling analysis suggested that the missense mutation could potentially have a deleterious effect on fibrinogen.Conclusion: The BβAla68Asp mutation in exon 2 of FGB may account for the reduced FIB:C levels observed in the pedigree. To our knowledge, this point mutation is the first report in the world.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"426-431"},"PeriodicalIF":3.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10265836","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

Erratum: A Novel Fibrinogen Mutation p.BβAla68Asp Causes an Inherited Dysfibrinogenemia. 更正：一种新型纤维蛋白原突变 p.BβAla68Asp 导致遗传性纤维蛋白原不良血症。

IF 3.2 4区医学

Hamostaseologie Pub Date : 2023-12-01 Epub Date: 2023-12-14 DOI: 10.1055/a-2218-6919

Kaiqi Jia, Manlin Zeng, Xiaoyong Zheng, Haixiao Xie, Lihong Yang, Yaosheng Xie, Mingshan Wang

引用次数: 0

Clinical Characterization and Molecular Analysis of Fourteen Chinese Patients with Factor V Deficiency. 十四名中国因子 V 缺乏症患者的临床特征和分子分析

IF 3.2 4区医学

Hamostaseologie Pub Date : 2023-12-01 Epub Date: 2023-09-15 DOI: 10.1055/a-2146-9540

Ke Zhang, Longying Ye, Yanhui Jin, Yuan Chen, Manlin Zeng, Kaiqi Jia, Lihong Yang, Mingshan Wang

{"title":"Clinical Characterization and Molecular Analysis of Fourteen Chinese Patients with Factor V Deficiency.","authors":"Ke Zhang, Longying Ye, Yanhui Jin, Yuan Chen, Manlin Zeng, Kaiqi Jia, Lihong Yang, Mingshan Wang","doi":"10.1055/a-2146-9540","DOIUrl":"10.1055/a-2146-9540","url":null,"abstract":"Introduction: Coagulation factor V (FV) functions as a vital cofactor that performs procoagulant roles in the coagulation system. We investigated 14 unrelated patients whose plasma FV levels were all below the reference range.Methods: FV activity (FV:C) and FV antigen were detected by one-stage clotting and ELISA, respectively. All 25 exons of the F5 gene in patients were amplified by the PCR, and they were sequenced directly. Haplotype analysis was performed with different polymorphisms on F5. Protein modeling was applied to analyze the potential molecular mechanisms.Results: Of five patients with higher FV levels (FV:C > 10%), only one had minor bleeding symptoms. In contrast, of the remaining eight patients with lower FV levels (FV:C < 10%), six showed various bleeding manifestations. A total of 10 mutations were detected from 14 patients (6 were novel mutations). Interestingly, the homozygous p.Phe190Ser was found in five pedigrees, and haplotype analysis showed that they shared almost the same haplotype, indicating the common origin rather than a hotspot mutation. In silico analysis preliminarily investigated the potential pathogenic mechanism of the mutation. Modeling analysis showed that all six missense mutations would lead to conformational alterations in the FV protein. Among them, three (p.Gly1715Ser, p.Ser1753Arg, and p.Asp68His) would decrease hydrogen bonds.Conclusion: This is the largest genetic analysis of a single cohort of FV deficiency in Chinese. The study demonstrated that FV levels tended to be correlated with the probability of hemorrhage. The identification of a large number of unique FV-deficient pedigrees highlighted the screening for mutations in F5.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"432-439"},"PeriodicalIF":3.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10261648","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