Hamostaseologie最新文献_第2页

Fibrinogen Replacement: A Questionable Dogma. 纤维蛋白原替代：一个有问题的教条。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-08-01 Epub Date: 2025-04-27 DOI: 10.1055/a-2535-8910

Patricia Duque, Wolfgang Korte

引用次数: 0

Stand GOÄ-Novelle, News zur ePA (elektronische Patientenakte), Ambulante Gentherapie für die Hämophilie B. 站GOA Novel， ePA（电子患者档案）新闻，血友病B的门诊基因治疗。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-08-01 Epub Date: 2025-08-14 DOI: 10.1055/a-2624-2996

Jürgen Koscielny, Christoph Sucker

引用次数: 0

Investigation of Bleeding Disorders: When and How Should We Test Platelet Functions? 出血性疾病的调查：何时以及如何检测血小板功能？

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-08-01 Epub Date: 2025-05-12 DOI: 10.1055/a-2535-9137

Paolo Gresele, Emanuela Falcinelli, Loredana Bury

{"title":"Investigation of Bleeding Disorders: When and How Should We Test Platelet Functions?","authors":"Paolo Gresele, Emanuela Falcinelli, Loredana Bury","doi":"10.1055/a-2535-9137","DOIUrl":"10.1055/a-2535-9137","url":null,"abstract":"Inherited platelet disorders (IPDs) are rare conditions with diverse underlying pathophysiology which should be suspected in patients presenting with mucocutaneous bleeding or hemorrhages upon hemostatic challenges, in the presence or not of thrombocytopenia. Identifying IPDs is critical for providing appropriate care, preventing misdiagnosis, and avoiding unnecessary interventions, such as splenectomy. Syndromic IPDs, which may be associated with severe complications like kidney failure, infection, and malignancies, underscore the importance of accurate diagnosis and tailored management.Diagnosing IPDs remains challenging, requiring a comprehensive approach that integrates clinical assessment, evaluation of the bleeding history using standardized tools, like the ISTH-BAT, and first-line laboratory tests, such as light transmission aggregometry and flow cytometry. Second-line and specialized tests, including transmission electron microscopy, genetic analysis, and biochemical studies, may provide further insight in complex cases. Technological advancements, including multicolor flow cytometry and microfluidic tools, may in perspective improve IPD diagnostics by providing high-throughput and precise laboratory assays. In particular, mass cytometry and multi-omics may contribute to unraveling IPD pathophysiology, identifying novel markers, and refining disease classification. The application of artificial intelligence shows potential for improving diagnostic accuracy through the automated analysis of platelet morphology and function, from flow cytometry and digital microscopy assays, and for improving the understanding of pathogenic mechanisms of IPD through the examination of big data.This review summarizes current IPD platelet function testing strategies, emphasizing the need for a structured, tiered approach and examining emerging technologies and AI applications that could revolutionize diagnostic workflows, leading to personalized care and to an expanded understanding of IPDs.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"335-346"},"PeriodicalIF":2.4,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062888","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

Pathophysiology and Management of Cerebral Venous Thrombosis. 脑静脉血栓形成的病理生理及治疗。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-08-01 Epub Date: 2025-04-08 DOI: 10.1055/a-2518-9103

Mariana B Morais, Diana Aguiar de Sousa

引用次数: 0

Mitteilungen aus der Vorstandsarbeit. 执行委员会的报告。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-08-01 Epub Date: 2025-08-11 DOI: 10.1055/a-2624-3135

引用次数: 0

Erratum: "Diagnosis of Inherited Platelet Disorders": Update of the Interdisciplinary S2k-Guideline [*] of the Permanent Pediatric Commission of the Society of Thrombosis and Haemostasis Research (GTH e.V.). 勘误：“遗传性血小板疾病的诊断”：血栓与止血研究学会常设儿科委员会（GTH e.v.）跨学科s2k指南更新[*]。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-08-01 Epub Date: 2025-09-19 DOI: 10.1055/s-0045-1811974

Jennifer Gebetsberger, Ralf Knöfler, Werner Streif

引用次数: 0

"Diagnosis of Inherited Platelet Disorders": Update of the Interdisciplinary S2k-Guideline [] of the Permanent Pediatric Commission of the Society of Thrombosis and Haemostasis Research (GTH e.V.). “遗传性血小板疾病的诊断”：血栓与止血研究学会常设儿科委员会（GTH e.v.）跨学科s2k指南的更新[]。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-08-01 Epub Date: 2025-08-12 DOI: 10.1055/a-2628-5488

Jennifer Gebetsberger, Ralf Knöfler, Werner Streif

{"title":"\"Diagnosis of Inherited Platelet Disorders\": Update of the Interdisciplinary S2k-Guideline [] of the Permanent Pediatric Commission of the Society of Thrombosis and Haemostasis Research (GTH e.V.).","authors":"Jennifer Gebetsberger, Ralf Knöfler, Werner Streif","doi":"10.1055/a-2628-5488","DOIUrl":"10.1055/a-2628-5488","url":null,"abstract":"Inherited platelet disorders (IPD) are a heterogeneous group of diseases causing bleeding, which are often challenging to diagnose. To improve the diagnostic process for these disorders, the ThromKidplus study group of the Permanent Pediatric Commission of the Society for Thrombosis and Haemostasis Research (GTH) has updated the AWMF Guideline for the \"Diagnosis of Inherited Platelet Disorders\" (AWMF Registry Number 086-003).Key updates in the guideline include a detailed diagnostic algorithm, emphasizing the use of standardized questionnaires, thorough patient history, and specific laboratory tests such as light transmission aggregometry (LTA), flow cytometry, and genetic testing. Updated guidelines for pre-analytics standardize sample preparation and handling to ensure reliable test results. Updated protocols for aggregometry and flow cytometry aim to enhance diagnostic accuracy. The integration of next-generation sequencing (NGS) provides comprehensive genetic analysis, and a new chapter on future developments highlights emerging technologies and research fields.This guideline supports the diagnosis of IPD close to the patient's residence, limits the diagnostic process to essential steps, and assists in counseling affected individuals and their families, ensuring that the diagnosis provides especially quality of life benefits to the patient.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"347-354"},"PeriodicalIF":2.4,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144838642","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

Congenital Fibrinogen Deficiencies: Not So Rare. 先天性纤维蛋白原缺乏：并不罕见。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-08-01 Epub Date: 2025-03-12 DOI: 10.1055/a-2511-3314

Alexander Couzens, Marguerite Neerman-Arbez

{"title":"Congenital Fibrinogen Deficiencies: Not So Rare.","authors":"Alexander Couzens, Marguerite Neerman-Arbez","doi":"10.1055/a-2511-3314","DOIUrl":"10.1055/a-2511-3314","url":null,"abstract":"Congenital fibrinogen deficiencies (CFDs), traditionally considered rare monogenic disorders, are now recognized as more prevalent and genetically complex than previously thought. Indeed, the symptoms manifested in CFD patients, such as bleeding and thrombosis, are likely to result from variation in several genes rather than solely driven by variants in one of the three fibrinogen genes, FGB, FGA, and FGG. This review highlights recent advances in understanding the genetic causes of CFD and their variability, facilitated by the growing use and availability of next-generation sequencing data. Using gnomAD v4.1.0. data, which includes more than 800,000 individuals, we provide updated global prevalence estimates for CFDs based on frequencies of predicted deleterious variants in FGB, FGA, and FGG. Recessively inherited fibrinogen deficiencies (homozygous genotypes) could be present in around 29 individuals per million, while dominantly inherited deficiencies (heterozygous genotypes) may be present in up to 15,000 per million. These increased estimates can be attributed to the inclusion of broader, more diverse genetic datasets in the new version of gnomAD, thus capturing a greater range of rare variants and homozygous cases.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"286-296"},"PeriodicalIF":2.4,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617855","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

Accelerated Fibrinolysis: A Tendency to Bleed? 加速纤维蛋白溶解：出血倾向？

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-08-01 Epub Date: 2025-04-27 DOI: 10.1055/a-2561-6786

Dino Mehic, Ingrid Pabinger, Johanna Gebhart

{"title":"Accelerated Fibrinolysis: A Tendency to Bleed?","authors":"Dino Mehic, Ingrid Pabinger, Johanna Gebhart","doi":"10.1055/a-2561-6786","DOIUrl":"10.1055/a-2561-6786","url":null,"abstract":"Hyperfibrinolysis is rarely investigated as an underlying mechanism in patients with mild-to-moderate bleeding disorders (MBDs) and bleeding disorders of unknown cause (BDUC). Hereditary hyperfibrinolytic disorders, including α2-antiplasmin (α2-AP) deficiency, plasminogen activator inhibitor type 1 (PAI-1) deficiency, Quebec platelet disorder, and tissue plasminogen activator (tPA) excess, present with mild-to-moderate bleeding symptoms that are common in patients with MBD or BDUC, but may also manifest as life-threatening bleeding. This review summarizes the available data on hyperfibrinolysis in MBD and BDUC patients, and its assessment by various methods such as measurement of fibrinolytic factors, global hemostatic assays (e.g., viscoelastic testing, turbidity-based plasma clot lysis), and fluorogenic plasmin generation (PG). However, evidence on the relationship between hyperfibrinolytic profiles and bleeding severity is inconsistent, and, although found in some coagulation factor deficiencies, has not been universally observed. In BDUC, increased tPA activity and paradoxical increases in thrombin-activatable fibrinolysis inhibitor and α2-AP have been reported. Some studies reported no change in PAI-1 levels, while others observed reduced PAI-1 levels in a significant subset of patients. The tPA-ROTEM (tPA-rotational thromboelastometry) assay identified a hyperfibrinolytic profile in up to 20% of BDUC patients. PG analysis revealed a paradoxically reduced peak plasmin, but showed strong predictive power in differentiating BDUC patients from healthy controls. Although global fibrinolytic assays may help identify hyperfibrinolytic profiles as a potential cause of increased bleeding in some MBD or BDUC patients, the utility of measuring fibrinolytic factors requires further investigation. Tranexamic acid is commonly used to treat hereditary hyperfibrinolysis and is also recommended in MBD/BDUC patients prior to hemostatic challenges.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"312-319"},"PeriodicalIF":2.4,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144013592","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

Evidence in Haemophilia Assessment: The Haemophilia Joint Health Score. 血友病评估的证据：血友病关节健康评分。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-08-01 Epub Date: 2025-05-23 DOI: 10.1055/a-2575-1475

Lukas Graf

引用次数: 0