Hamostaseologie最新文献

{"title":"From Code to Clots: Applying Machine Learning to Clinical Aspects of Venous Thromboembolism Prevention, Diagnosis, and Management.","authors":"Pavlina Chrysafi, Barbara Lam, Samuel Carton, Rushad Patell","doi":"10.1055/a-2415-8408","DOIUrl":"https://doi.org/10.1055/a-2415-8408","url":null,"abstract":"<p><p>The high incidence of venous thromboembolism (VTE) globally and the morbidity and mortality burden associated with the disease make it a pressing issue. Machine learning (ML) can improve VTE prevention, detection, and treatment. The ability of this novel technology to process large amounts of high-dimensional data can help identify new risk factors and better risk stratify patients for thromboprophylaxis. Applications of ML for VTE include systems that interpret medical imaging, assess the severity of the VTE, tailor treatment according to individual patient needs, and identify VTE cases to facilitate surveillance. Generative artificial intelligence may be leveraged to design new molecules such as new anticoagulants, generate synthetic data to expand datasets, and reduce clinical burden by assisting in generating clinical notes. Potential challenges in the applications of these novel technologies include the availability of multidimensional large datasets, prospective studies and clinical trials to ensure safety and efficacy, continuous quality assessment to maintain algorithm accuracy, mitigation of unwanted bias, and regulatory and legal guardrails to protect patients and providers. We propose a practical approach for clinicians to integrate ML into research, from choosing appropriate problems to integrating ML into clinical workflows. ML offers much promise and opportunity for clinicians and researchers in VTE to translate this technology into the clinic and directly benefit the patients.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":"44 6","pages":"429-445"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808727","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}

{"title":"Keine genetische Korrelation zwischen Rauchen und venösen Thromboembolien.","authors":"","doi":"10.1055/s-0044-1800985","DOIUrl":"https://doi.org/10.1055/s-0044-1800985","url":null,"abstract":"","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":"44 6","pages":"426"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808729","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}

{"title":"Digital Technologies in Hereditary Coagulation Disorders: A Systematic Review.","authors":"Fabian Kahl, Maximilian Kapsecker, Leon Nissen, Laura Bresser, Marie Heinemann, Lara Marie Reimer, Stephan M Jonas","doi":"10.1055/a-2415-8646","DOIUrl":"10.1055/a-2415-8646","url":null,"abstract":"<p><strong>Background: </strong> This systematic review aims to comprehensively survey digital technologies used in the prevention, diagnosis, and treatment of hereditary blood coagulation disorders.</p><p><strong>Methods: </strong> The systematic review was performed according to the PRISMA guidelines. A systematic search was conducted on PubMed on January 29, 2024. Articles were excluded if they were reviews, meta-analyses, or systematic reviews. Articles were included if they were published from January 1, 2014, onward, written in English, described an actual application of digital tools, were in the context of hereditary coagulation disorders, and involved studies or trials on humans or human data with at least three subjects.</p><p><strong>Results: </strong> The initial PubMed search on January 29, 2024, identified 2,843 articles, with 672 from January 1, 2014, onward. After screening, 21 articles met the exclusion and inclusion criteria. Among these, 12 focused on artificial intelligence (AI) technologies and 9 on digital applications. AI was predominantly used for diagnosis (five studies) and treatment (four studies), while digital applications were mainly used for treatment (eight studies). Most studies addressed hemophilia A, with a smaller number including hemophilia B or von Willebrand disease.</p><p><strong>Discussion: </strong> The findings reveal a lack of intervention studies in the prevention, diagnosis, and treatment. However, digital tools, including AI and digital applications, are increasingly used in managing hereditary coagulation disorders. AI enhances diagnostic accuracy and personalizes treatment, while digital applications improve patient care and engagement. Despite these advancements, study biases and design limitations indicate the need for further research to fully harness the potential of these technologies.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":"44 6","pages":"446-458"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11631203/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808704","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}

{"title":"Digenic Inheritance of PROC and SERPINC1 Mutations Contributes to Multiple Sites Venous Thrombosis.","authors":"Xiangui Li, Jiabao Zhu, Fanzhen Lv, Wenqi Ma, Weimin Zhou, Wenwen Zhang","doi":"10.1055/a-2212-1565","DOIUrl":"10.1055/a-2212-1565","url":null,"abstract":"<p><p>Venous thromboembolism (VTE) represents a worldwide health challenge, impacting millions of people each year. The genesis of venous thrombosis is influenced in part by genetic components. Hereditary thrombosis is described as a genetically determined susceptibility to VTE. In the present study, a male patient was referred to our department presenting with multiple venous thrombosis events in different locations. Given a lack of identifiable risk factors, we aimed to investigate the possible genetic factor underlying venous thrombosis. Whole-exome sequencing was employed to examine genes linked to inherited thrombophilia in the proband. Putative variants were subsequently confirmed through Sanger sequencing within the family. The proband was identified as carrying two genetic mutations. One is the novel c.400G > C (p.E134Q) mutation affecting the final nucleotide of exon 5 in the PROC gene, potentially impacting splicing. The other is a previously reported heterozygous nonsense variant c.1016G > A (p.W339X) in the SERPINC1 gene. The proband inherited the former from her mother and the latter from her father. The presence of digenic inheritance in the patient reflects the complex phenotype of venous thrombosis and demonstrates the significance of an unbiased approach to detect pathogenic variants, especially in patients with a high risk of hereditary thrombosis.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":"472-477"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11631202/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139472962","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}

{"title":"Expert Opinion for Defining a Severe Bleeding Phenotype to Guide Prophylaxis in Patients with Nonsevere Hemophilia.","authors":"Christian Pfrepper, Carmen Escuriola Ettingshausen, Robert Klamroth, Johannes Oldenburg, Martin Olivieri","doi":"10.1055/a-2411-7416","DOIUrl":"https://doi.org/10.1055/a-2411-7416","url":null,"abstract":"<p><p>Prophylaxis is the standard of care for patients with severe hemophilia, patients with moderate hemophilia, or those with another congenital bleeding disorder that is associated with a severe bleeding phenotype and/or a high risk of spontaneous life-threatening bleeding. Patients with nonsevere hemophilia (factor VIII [FVIII] ≥ 1%) may also have a bleeding phenotype that requires prophylaxis. To date, however, there are no clear criteria as to when prophylaxis is indicated in these patients. Also, the term \"severe bleeding phenotype (SBPT)\" is neither included in the definitions of the International Society on Thrombosis and Haemostasis (ISTH) nor specified in the World Federation of Hemophilia (WFH) guidelines. Based on our personal experience and available evidence, we propose the criteria we use to define an SBPT and when we consider offering prophylaxis in patients with nonsevere hemophilia. Our proposals can be the basis for discussions in the community about the assessment of SBPT and the initiation of prophylaxis in patients with nonsevere hemophilia without inhibitors.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142632588","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}

{"title":"Management of Adult Patients with Newly Diagnosed or Relapsed Primary Immune Thrombocytopenia in Eastern Austria.","authors":"Jasmin Rast, Theresa Schramm, Dino Mehic, Michael Fillitz, Tanja Drexel, Veronika Neusiedler-Nicolas, Cihan Ay, Ingrid Pabinger, Johanna Gebhart","doi":"10.1055/a-2404-0306","DOIUrl":"https://doi.org/10.1055/a-2404-0306","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt; Treatment sequence in primary immune thrombocytopenia (ITP) is based on national and international recommendations, treatment availability, and physician expertise.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Aim: &lt;/strong&gt; This article aimed to provide real-world data on treatment sequence and responses to first- and second-line treatments in newly diagnosed and relapsed adult ITP patients.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt; We analyzed a cohort of 46 adult ITP patients from the Vienna ITP Biobank, who started first-line therapy within 1 week before their first study visit between February 2016 and March 2023. We investigated clinical patient characteristics and patient management in our specialized center and examined the impact of the international ASH guidelines on ITP treatment.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt; Forty-six primary ITP patients, 27 (58.7%) with newly diagnosed ITP and 19 (41.3%) with relapsed ITP, were investigated. Most patients were female (65.2%) with a median platelet count of 9 × 10&lt;sup&gt;9&lt;/sup&gt;/L, and 31 patients (67.4%) had bleeding symptoms. All patients received first-line treatment with oral prednisolone; 15 patients received oral prednisolone combined with intravenous immunoglobulins (IVIGs), which were more commonly administered in newly diagnosed than in relapsed ITP patients. First-line therapy resulted an overall response in 82.6% of patients after a median (interquartile range [IQR]) time of 10 (5-25) days. There was no difference in treatment responses between newly diagnosed and relapsed ITP patients, but newly diagnosed patients had a shorter time to response (median [IQR]: 8 [5-14] and 14 [8-27], &lt;i&gt;p&lt;/i&gt; = 0.02). Twenty-three (50%) of the patients (11/27 newly diagnosed [40.7%], 12/19 relapsed [63.2%]) required second-line ITP therapy. Thrombopoietin-receptor agonists (TPO-RAs) were the most commonly used second-line therapy with a response rate of 73.7%, and a median (IQR) time to treatment response of 15 (12-20) days. Overall response rates to TPO-RA treatment did not differ between newly diagnosed and relapsed ITP. Following the publication of novel guidelines in 2019, the median (IQR) duration of corticosteroid treatment shortened (100-52 days, &lt;i&gt;p&lt;/i&gt; = 0.01), as did the time to second-line treatment (160-47 days, &lt;i&gt;p&lt;/i&gt; = 0.01), and the median number of first-line therapies decreased from 2 (1-3) to 1 (1-2).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt; Initial treatment with corticosteroids was effective in the majority of newly diagnosed and relapsed ITP. Response rates to initial corticosteroid treatment in ITP patients are consistent with previous data, but only 50% achieve sustained remission. TPO-RAs, which are well tolerated and effective, are the most commonly used second-line therapy in our study population. International guidelines have led to faster treatment transitions and reduced splenectomy rates. Integration of real-life experience, expert consensus, and guidelines optimizes ITP patient manag","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142584915","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}

{"title":"Treatment of Cancer-Associated Thrombosis: An Update.","authors":"Minna Voigtlaender, Christina Rolling, Christina Hart","doi":"10.1055/a-2420-7684","DOIUrl":"https://doi.org/10.1055/a-2420-7684","url":null,"abstract":"<p><p>Patients with cancer are at increased risk of venous thromboembolism (VTE). Treatment of VTE remains challenging due to a significant risk of both VTE recurrence and bleeding compared with patients without underlying malignancy. Moreover, patients with cancer often present with several comorbidities such as tumor- or treatment-induced bone marrow failure, renal impairment, and extensive concomitant anticancer or supportive medication, resulting in potential drug-drug interactions. Further challenging circumstances include gastrointestinal (GI) disorders, in the context of a GI intraluminal tumor itself, GI surgery, or systemic therapy-induced GI toxicity. However, treatment options and study data in the management of cancer-associated thrombosis (CAT) have expanded over the last few years. As a result, it is becoming increasingly important to assess the patient's individual risk of bleeding and its comorbidities, and the patient's personal preferences. Prospectively, further therapeutic strategies such as factor XIa inhibitors are under clinical investigation. The aim of our narrative review is to summarize the current literature on therapy options for CAT, including common treatment situations encountered in the management of patients with cancer.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142584917","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}

{"title":"Primary Prevention of Cancer-Associated Thrombosis: Current Perspectives.","authors":"Christina Hart, Nick van Es, Minna Voigtlaender","doi":"10.1055/a-2374-3425","DOIUrl":"https://doi.org/10.1055/a-2374-3425","url":null,"abstract":"<p><p>Over the past two decades, the incidence of cancer-associated thrombosis (CAT) has increased. It is nowadays a common and often serious complication among patients with cancer. Although medical thromboprophylaxis is recommended for most surgical and nonsurgical cancer patients, it has been infrequently used in ambulatory patients with cancer because of the burden of treatment and concerns about bleeding. However, various risk assessment scores are now available and randomized placebo-controlled trials have established the efficacy of low-molecular-weight heparin or the direct oral Xa inhibitors rivaroxaban and apixaban in ambulatory patients with cancer at high risk of venous thromboembolism (VTE). This review provides an overview of (1) primary thromboprophylaxis in the setting of hospitalized surgical and medical patients, (2) extended thromboprophylaxis after hospital discharge, (3) performance of risk assessment tools for CAT, and (4) primary thromboprophylaxis in ambulatory patients with cancer. The aim is to provide support to physicians in identifying ambulatory patients with cancer at high VTE risk who benefit most from medical thromboprophylaxis according to current recommendations from international guidelines.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142402056","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}

{"title":"Facial Hematoma: An Atypical Bleeding Site for Acquired Hemophilia.","authors":"Neeta Kesu Belani, Winnie Z Y Teo","doi":"10.1055/a-2276-4893","DOIUrl":"https://doi.org/10.1055/a-2276-4893","url":null,"abstract":"","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395457","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}

{"title":"Baseline Platelet Count Predicts Infarct Size and Mortality after Acute Myocardial Infarction.","authors":"Alexander Dutsch, Christian Graesser, Sophie Novacek, Johannes Krefting, Viktoria Schories, Benedikt Niedermeier, Felix Voll, Sebastian Kufner, Erion Xhepa, Michael Joner, Salvatore Cassese, Heribert Schunkert, Gjin Ndrepepa, Adnan Kastrati, Thorsten Kessler, Hendrik B Sager","doi":"10.1055/a-2299-0130","DOIUrl":"10.1055/a-2299-0130","url":null,"abstract":"<p><strong>Introduction: </strong> Platelets greatly contribute to cardiovascular diseases. We sought to explore the association of platelet counts with infarct size and outcome in patients presenting with acute ST-segment elevation MI (STEMI) treated with primary percutaneous coronary intervention (PPCI).</p><p><strong>Methods and results: </strong> In this retrospective study, we grouped 1,198 STEMI patients into tertiles (T) based on platelet count on admission: T1 = 102-206 [10⁹ platelets/L] (<i>n</i> = 402), T2 = 207-259 [10⁹ platelets/L] (<i>n</i> = 396), and T3 = 260-921 [10⁹ platelets/L] (<i>n</i> = 400). Primary endpoint was 1-year all-cause mortality. Patients with highest platelet counts on admission showed the greatest area at risk and infarct size: area at risk (median) was 22.0% (interquartile range [IQR]: 12.0-39.8%) in T1, 21.0% (IQR: 11.0-37.1%) in T2, and 26.0% (IQR: 14.9-45.0%) of the left ventricle in T3 (<i>p</i> = 0.003); final infarct sizes after 7 to 14 days were as follows: 10.0% (IQR: 2.0-21.0%) in T1, 9.0% (IQR: 2.0-20.7%) in T2, and 12.0% (IQR: 3.0-27.3%) of the left ventricle in T3 (<i>p</i> = 0.015) as serial imaging revealed. At 1 year, 16 all-cause deaths occurred in T1, 5 in T2, and 22 in T3 (log-rank test, <i>p</i> = 0.006). After adjustment, T1 and T3 were associated with all-cause 1-year mortality (T1: hazard ratio [HR] = 3.40, 95% confidence interval [CI] = 1.23-9.54, <i>p</i> = 0.02; T3: HR = 3.55, 95% CI = 1.23-9.78, <i>p</i> = 0.01) compared with T2. At 5 years, all-cause mortality remained numerically higher in the T1 and T3.</p><p><strong>Conclusions: </strong> In patients with STEMI undergoing PPCI, low and high blood platelet levels on admission were associated with increased long-term mortality (Fig. 1).</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142376342","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}