Hamostaseologie最新文献_第9页

Thromboseinzidenz nach Verletzungen der unteren Extremitäten. 下肢受伤后的血栓形成。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-12-01 Epub Date: 2026-01-08 DOI: 10.1055/s-0046-1815922

引用次数: 0

Thrombembolisch bedingter Kreislaufstillstand fast immer tödlich. 血栓栓塞引起的循环停止几乎总是致命的。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-12-01 Epub Date: 2026-01-08 DOI: 10.1055/s-0046-1815921

引用次数: 0

Anti-Thrombin IgA in a Patient with Multiple Myeloma Leading to In Vitro Interference in Multiple Coagulation Tests and Confounding Diagnosis. [一名多发性骨髓瘤患者体内的抗凝血酶 IgA 导致多种凝血试验的体外干扰并影响诊断]。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-12-01 Epub Date: 2024-03-01 DOI: 10.1055/a-2211-6841

Christian Irsara, Andrea Griesmacher, Lorin Loacker, Clemens Feistritzer, Cosima Anna Überbacher, Jean Amiral

{"title":"Anti-Thrombin IgA in a Patient with Multiple Myeloma Leading to In Vitro Interference in Multiple Coagulation Tests and Confounding Diagnosis.","authors":"Christian Irsara, Andrea Griesmacher, Lorin Loacker, Clemens Feistritzer, Cosima Anna Überbacher, Jean Amiral","doi":"10.1055/a-2211-6841","DOIUrl":"10.1055/a-2211-6841","url":null,"abstract":"We report the case of a 59-year-old multiple myeloma patient in whom an anti-human thrombin IgA antibody led to prolonged in vitro coagulation times, suggesting inhibitors to all intrinsic coagulation factors in the absence of spontaneous bleeding.Routine and extensive special coagulation tests, in vivo bleeding time, and specific antibody testing were performed.Although the patient did not suffer from spontaneous bleeding and had a normal in vivo bleeding time, the anti-human thrombin IgA autoantibody affected all coagulation assays involving human thrombin in vitro, mimicking inhibitors to intrinsic coagulation factors. As the IgA paraprotein and the IgA antibody virtually disappeared after autologous stem cell transplantation, the coagulation tests also largely normalized.Antibodies to human thrombin may interfere with all coagulation assays involving thrombin, imitating a severe coagulopathy. However, in vivo they do not necessarily lead to strongly increased bleeding tendency. Complex and ambiguous coagulation abnormalities should be evaluated and treated in an interdisciplinary setting, including a highly specialized coagulation laboratory, from the beginning.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"505-510"},"PeriodicalIF":2.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140013678","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

Connecting the Dots: Reflections on a vibrant Year in Haemostasis Research. 连接的点：反思一个充满活力的一年止血研究。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-12-01 Epub Date: 2026-01-08 DOI: 10.1055/a-2731-2508

Manuela Albisetti, Florian Langer, Heiko Rühl

引用次数: 0

Neue Probleme der Digitalisierung (eHBA), Gentherapie der Hämophilie, BDDH-Veranstaltung auf Jahrestagung der GTH 2026 in Bonn. Neue Probleme der Digitalisierung (eHBA)，血友病基因治疗，德国波恩GTH 2026年年会BDH活动。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-12-01 Epub Date: 2026-01-08 DOI: 10.1055/a-2624-3440

Jürgen Koscielny, Christoph Sucker

引用次数: 0

The Timed Up and Go Test in Patients with Haemophilia: Assessing Reliability, Validity, and Predictive Variables. 血友病患者的定时起跑试验：评估信度、效度和预测变量。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-10-13 DOI: 10.1055/a-2687-9339

F Tomschi, M Brühl, A Schmidt, J Wiese, A Lorenz, T Hilberg

{"title":"The Timed Up and Go Test in Patients with Haemophilia: Assessing Reliability, Validity, and Predictive Variables.","authors":"F Tomschi, M Brühl, A Schmidt, J Wiese, A Lorenz, T Hilberg","doi":"10.1055/a-2687-9339","DOIUrl":"https://doi.org/10.1055/a-2687-9339","url":null,"abstract":"The Timed Up and Go (TUG) test is frequently used to assess patients' functional mobility. However, its psychometric characteristics in patients with haemophilia (PwH) are unknown. This study's primary aim was to determine the validity, reliability, standard error of measurement (SEM), and minimal detectable change (MDC) of the TUG in PwH. The secondary aim was to determine predictors for the TUG time.A total of 40 PwH were included. Test-retest reliability was assessed by the same rater at two time points and inter-rater reliability was assessed by two raters. Construct validity was tested via correlation analyses between the TUG and the haemophilia joint health score (HJHS), the short physical performance battery (SPPB), the HEP-Test-questionnaire, and the Haemophilia Activity List (HAL). SEM and MDC were calculated. Multiple linear regression analyses with several patient-specific predictors were performed.Test-retest and inter-rater reliability analyses revealed excellent ICCs of 0.990 (95% CI: 0.972-0.995) and 0.929 (95% CI: 0.870-0.962), respectively. The SEM and MDC of the TUG were 0.34 and 1.52 seconds, respectively. Large correlations (r > 0.5) were observed between the TUG and the HJHS, SPPB, HEP-Test-Q, and HAL. Regression analysis revealed the HJHS as the sole significant predictor, with the full model explaining 37.0% of the variance in TUG performance.In PwH, the TUG is a reliable test possessing an excellent test-retest and inter-rater reliability, while showing a high validity. TUG times can mainly be predicted by HJHS. The TUG can therefore be considered a suitable tool to evaluate mobility in adult PwH.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145287762","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

Laboratory Monitoring in Patients Receiving Emicizumab. 接受Emicizumab患者的实验室监测。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-10-09 DOI: 10.1055/a-2687-0107

Jens Müller, Martin Büchsel, Olga Oleshko, Behnaz Pezeshkpoor, Ulrich Sachs, Ute Scholz, Andreas Tiede

{"title":"Laboratory Monitoring in Patients Receiving Emicizumab.","authors":"Jens Müller, Martin Büchsel, Olga Oleshko, Behnaz Pezeshkpoor, Ulrich Sachs, Ute Scholz, Andreas Tiede","doi":"10.1055/a-2687-0107","DOIUrl":"https://doi.org/10.1055/a-2687-0107","url":null,"abstract":"Emicizumab is a bispecific monoclonal antibody that mimics the cofactor function of activated factor VIII (FVIIIa). It is approved for routine prophylaxis in patients with severe or moderate congenital hemophilia A (HA), both with and without FVIII inhibitors, and is increasingly used as a first-line treatment in acquired HA (AHA). Owing to its predictable pharmacokinetic profile, emicizumab monitoring is generally limited to cases with suspected reduced efficacy, such as due to poor adherence or the development of anti-drug antibodies (ADAs). However, emicizumab interferes with standard clotting assays, particularly by shortening activated partial thromboplastin times (APTT). To address this, modified FVIII one-stage clotting assays (mOSA), which use higher sample pre-dilution and emicizumab-specific calibration, are commonly employed to estimate plasma levels, although other assay formats like emicizumab-calibrated chromogenic substrate assays based on human factors or liquid chromatography tandem mass spectrometry are also available. Additionally, global assays such as in vitro thrombin generation testing are being explored to better reflect clinical hemostatic efficacy. This review summarizes current knowledge on assay interferences caused by emicizumab, challenges in functional measurement of plasma levels, and strategies to ensure reliable laboratory assessment. We also discuss the relevance and methods for ADA detection and provide an overview of current and emerging strategies for thrombin generation measurement as a global indicator of treatment effectiveness.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145259824","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

Usefulness of Global Coagulation Tests, Thrombin Generation and Viscoelastic Tests for Assessing the Bleeding Phenotype in Rare Coagulation Factor Deficiencies. 全球凝血试验，凝血酶生成和粘弹性试验对评估罕见凝血因子缺乏的出血表型的有用性。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-10-01 Epub Date: 2025-10-15 DOI: 10.1055/a-2651-8816

Tim Dreier, Dino Mehic, Johanna Gebhart

{"title":"Usefulness of Global Coagulation Tests, Thrombin Generation and Viscoelastic Tests for Assessing the Bleeding Phenotype in Rare Coagulation Factor Deficiencies.","authors":"Tim Dreier, Dino Mehic, Johanna Gebhart","doi":"10.1055/a-2651-8816","DOIUrl":"10.1055/a-2651-8816","url":null,"abstract":"Inherited deficiencies of coagulation factors are rare and exhibit variable associations with severe bleeding phenotypes. Although conventional hemostatic assays serve as useful screening tools, they often fail to accurately predict clinical bleeding severity. Disease management is further complicated by poor correlation between residual factor levels and the overall symptom severity in affected patients and limited clinical experience. In this review, we evaluate the utility of global coagulation tests, such as the thrombin generation assay, plasmin generation assay (PGA), and rotational thromboelastometry (ROTEM), in assessing the severity of rare coagulation factor deficiencies and their clinical manifestations.Overall, thrombin generation, plasmin generation, and ROTEM were impaired in most rare coagulation factor deficiencies. Furthermore, significantly reduced coagulation factor activity and consequently decreased thrombin generation potential correlated with the clinical bleeding severity in deficiencies of prothrombin and factors V, VII, X, and XI. PGA was significantly impaired in fibrinogen and prothrombin deficiency and variably reduced in FV- and FX-deficient patients, but did not correlate with the presence or severity of bleeding manifestations. Lastly, ROTEM parameters were able to discriminate between asymptomatic FX-, FXI-, and fibrinogen-deficient patients and those with a history of bleeding.Although these studies are mostly limited to small sample sizes and prospective data are lacking, the available literature suggests that TGA, PGA, and ROTEM may be useful in stratifying patients according to their overall bleeding severity, as well as their risk of major bleeding complications in some of the rare coagulation factor deficiencies.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":"45 5","pages":"419-430"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304412","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

Understanding Congenital FXI Deficiency: Genetic Diagnosis and Correlation of Variant Detection Rate to Factor XI Activity. 了解先天性FXI缺陷：基因诊断和变异检出率与因子XI活性的相关性。

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-10-01 Epub Date: 2025-10-15 DOI: 10.1055/a-2654-8635

Behnaz Pezeshkpoor, Atanas Banchev, Barbara Preisler, Ute Scholz, Barbara Zieger, Johannes Oldenburg, Anna Pavlova

{"title":"Understanding Congenital FXI Deficiency: Genetic Diagnosis and Correlation of Variant Detection Rate to Factor XI Activity.","authors":"Behnaz Pezeshkpoor, Atanas Banchev, Barbara Preisler, Ute Scholz, Barbara Zieger, Johannes Oldenburg, Anna Pavlova","doi":"10.1055/a-2654-8635","DOIUrl":"https://doi.org/10.1055/a-2654-8635","url":null,"abstract":"Factor XI (FXI) deficiency is an autosomal bleeding disorder characterized by low FXI levels, resulting in bleeding after trauma or surgery. Genetic variants affecting FXI structure and function often result in bleeding diatheses.This study aimed to estimate the variant detection rate (VDR), and assess its correlation with FXI activity (FXI:C) in a large cohort of FXI-deficient patients.Genetic defects in the F11 gene were analyzed in 316 index patients (IPs) using Sanger or next-generation sequencing. Multiplex ligation-dependent probe amplification or copy number variation analysis was used to detect duplications and deletions.Genetic defects were identified in 249 IPs (VDR of 79%). A strong negative correlation (Pearson coefficient: -0.891) was found between FXI:C levels and VDRs: higher FXI:C levels corresponded to a lower likelihood of detecting genetic alterations, with a significant decline in VDR beyond 60 IU/dL. A total of 286 genetic variants were identified in F11 gene: 56% missense, 24% nonsense, 11% small deletions/insertions, and 6% splice-site variants. Large deletions were rare (3%). A total of 48 novel variants were detected. Ashkenazi Jewish founder variants were the most frequent (14.3%). Variants p.Gln134Ter, p.Ile215_Asp216del, and p.Glu315Lys (27% of cases) were recurrent. In four cases, large deletions extended beyond the F11 gene and included the neighboring KLKB1 gene, encoding prekallikrein.This study demonstrated a significant negative correlation between FXI:C levels and VDRs, underscoring the importance of genetic testing. Findings included combined deficiencies in FXI and prekallikrein due to large deletions affecting both F11 and KLKB genes.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":"45 5","pages":"405-413"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304421","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

Late Diagnosis of NBEAL2-related Gray Platelet Syndrome in Finnish Siblings with Lifelong Thrombocytopenia. 芬兰终生血小板减少症兄弟姐妹中nbeal2相关灰色血小板综合征的晚期诊断

IF 2.4 4区医学

Hamostaseologie Pub Date : 2025-10-01 Epub Date: 2025-10-15 DOI: 10.1055/a-2698-0341

Doris Boeckelmann, Terhi Friman, Hannah Glonnegger, Ulla Wartiovaara-Kautto, Barbara Zieger

{"title":"Late Diagnosis of NBEAL2-related Gray Platelet Syndrome in Finnish Siblings with Lifelong Thrombocytopenia.","authors":"Doris Boeckelmann, Terhi Friman, Hannah Glonnegger, Ulla Wartiovaara-Kautto, Barbara Zieger","doi":"10.1055/a-2698-0341","DOIUrl":"10.1055/a-2698-0341","url":null,"abstract":"In the case of familial thrombocytopenia, a congenital defect should be considered; however, in particular older patients who have had thrombocytopenia for a long time have often not yet been genetically analyzed using modern sequencing methods. Remarkably, sometimes they are still suspected of suffering from chronic immune thrombocytopenia until genetic testing reveals a congenital defect. We report on elderly Finnish siblings (both older than 60 years) with lifelong thrombocytopenia. The lifelong bleeding tendency in both the siblings was usually treated with tranexamic acid and platelet transfusions when necessary. In 2022, the older brother presented at the University Hospital in Helsinki because he had recently been suffering from gastrointestinal bleeding and also had mild pancytopenia. Because his sister lived abroad, the Finnish colleagues recommended that the sister should present to the University Hospital in Freiburg. Independent genetic testing of both the siblings using NGS identified the diagnosis of NBEAL2-associated gray platelet syndrome. The disease comprises macrothrombocytopenia and a reduction of α-granules in platelets, resulting in a grayish appearance of platelets on the blood smear. Patients usually suffer from a mild to moderate bleeding diathesis. Interestingly, during the last years a more syndromic character of the disease has been described: besides the platelet phenotype, the immune system can also be affected. In the course of the disease patients may develop pancytopenia, splenomegaly, and bone marrow fibrosis. Comprehensive diagnostics including molecular genetic analyses are particularly important to provide these patients with adequate care and treatment.","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":"45 5","pages":"414-418"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304444","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