Thrombosis Journal最新文献

{"title":"Thrombosis in rare bleeding disorders: a bleeding phenotype does not fully preclude thrombotic risk- frequency, clinical contexts, and management in a large Iranian cohort.","authors":"Majid Naderi, Saeedeh Yaghoubi, Sina Rajaee, Ilia Mirzaei, Shadi Tabibian","doi":"10.1186/s12959-026-00901-5","DOIUrl":"10.1186/s12959-026-00901-5","url":null,"abstract":"<p><strong>Background: </strong>Bleeding is the dominant clinical feature of rare bleeding disorders (RBDs), yet thrombotic events have occasionally been reported. Available evidence is limited and mostly based on case reports. Thrombotic events tend to occur in high-risk clinical contexts and may be influenced by replacement therapy and coexisting risk factors. We aimed to estimate the frequency of imaging-confirmed thrombosis and describe associated clinical contexts and potential predisposing factors in an unselected RBD cohort.</p><p><strong>Methods: </strong>This single-center retrospective study was conducted on all patients with confirmed diagnoses of RBDs, including rare coagulation factor deficiencies, von Willebrand disease, and inherited platelet function disorders, under care at our center between January and December 2025. Data were extracted from medical and laboratory records and imaging archives. Variables included age, sex, type and severity of deficiency, comorbidities, prothrombotic triggers (e.g., pregnancy, surgery, infection, and immobility), exposure to replacement therapy, and thrombophilia profile. Thrombotic events were verified through imaging.</p><p><strong>Results: </strong>Among 1,251 patients (682 FXIII, 127 FVII, 130 FV, 23 FX, 12 FII, 28 afibrinogenemia, 131 von Willebrand disease, 62 Glanzmann thrombasthenia, 26 FXI deficiency, 19 combined FV and FVIII deficiency, and 11 Bernard-Soulier syndrome), 12 (0.96%; 95% CI, 0.50-1.67%) had at least one lifetime imaging-confirmed thrombotic event. Events were exclusively venous. Events occurred mainly as deep vein thrombosis (50%) or cerebral venous thrombosis (41.7%), with other sites less common, most often in high-risk contexts such as pregnancy (4 cases), surgery, infection, or exposure to prothrombin complex concentrate (PCC). Thrombosis was more frequent in afibrinogenemia (7.1%) and FII deficiency (8.3%) than in FXIII deficiency (0.7%), although interpretation is limited by small numbers. In a sensitivity analysis excluding events associated with pregnancy, surgery, and exposure PCC, the proportion decreased to 0.48% (6/1,251; 95% CI, 0.18-1.04%). Thrombotic events were treated with therapeutic anticoagulation, most commonly initial low-molecular-weight heparin (LMWH) with transition to a Direct Oral Anticoagulant (DOAC) in selected non-pregnant adult patients; when replacement therapy was required, dosing was individualized to maintain minimum effective hemostatic levels and avoid full factor normalization.</p><p><strong>Conclusions: </strong>Thrombosis in RBDs was rare and largely associated with major transient high-risk contexts and/or treatment exposure. Prospective multicenter studies are needed to improve the evidence base for clinical decision making regarding thrombotic risks in this vulnerable population.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"24 1","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13417843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148621372","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":"Prevalence of obstructive sleep apnea syndrome in patients with pulmonary embolism: a prospective observational study.","authors":"Mustafa Canbaz, Zeynep Zeren Uçar, Işıl Karasu, Dursun Tatar, Ahmet Emin Erbaycu","doi":"10.1186/s12959-026-00895-0","DOIUrl":"10.1186/s12959-026-00895-0","url":null,"abstract":"<p><strong>Background: </strong>The relationship between obstructive sleep apnea syndrome (OSAS) and pulmonary embolism (PE) remains inadequately characterized, and prospective data obtained with objective sleep testing in confirmed PE patients are scarce. We aimed to determine the prevalence of OSAS in patients with radiologically confirmed PE and to compare clinical, laboratory, and polysomnographic features according to OSAS status.</p><p><strong>Methods: </strong>In this single-center prospective observational study, 45 patients with confirmed PE (thoracic computed tomography pulmonary angiography or ventilation/perfusion scintigraphy) underwent portable polysomnography (WatchPAT 200^®) within two weeks of diagnosis. OSAS was defined as an apnea-hypopnea index (AHI) ≥ 5 events/hour. Group comparisons used the Mann-Whitney U test and chi-square or Fisher's exact test; associations with AHI were assessed by Spearman's rank correlation.</p><p><strong>Results: </strong>OSAS was identified in 31 patients (68.9%): 11 mild, 12 moderate, and 8 severe. Body mass index (BMI) was significantly higher in OSAS-positive patients [median 31.2 (IQR 26.5-34.6) vs. 27.3 (24.2-30.4) kg/m²; p = 0.037]. Blood urea nitrogen was also elevated in the OSAS group [36.0 (25.1-52.0) vs. 19.5 (16.2-43.5) mg/dL; p = 0.026]. Minimum nocturnal oxygen saturation was markedly lower in OSAS patients [83.0% (79.0-86.5) vs. 91.0% (88.5-92.0); p < 0.001], as were the oxygen desaturation index and time with SpO₂ <90% (both p < 0.001). AHI correlated positively with age (r = 0.363; p = 0.014) and negatively with minimum nocturnal SpO₂ (r =- 0.753; p < 0.001). Classical Wells criteria did not differ between groups; 38.7% of OSAS-positive patients had no identifiable Wells risk factor for PE.</p><p><strong>Conclusions: </strong>OSAS was present in nearly 70% of PE patients and was associated with greater nocturnal hypoxemic burden, higher BMI, and elevated blood urea nitrogen. The absence of classical precipitating factors in a substantial proportion of OSAS-positive patients is consistent with the hypothesis that sleep-disordered breathing may be associated with an increased thrombotic risk. Further prospective studies are needed to evaluate the clinical utility and cost-effectiveness of targeted OSAS screening strategies in PE patients, particularly those without conventional risk factors.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13670722/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148498011","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":"Timing of disseminated intravascular coagulation onset is associated with development of persistent inflammation, immunosuppression, and catabolism syndrome in critically ill patients.","authors":"Chie Okuda, Shota Sonobe, Junji Egawa, Masahiko Kawaguchi","doi":"10.1186/s12959-026-00896-z","DOIUrl":"10.1186/s12959-026-00896-z","url":null,"abstract":"<p><strong>Background: </strong>Persistent inflammation, immunosuppression, and catabolism syndrome (PIICS) is a post-critical illness characterized by sustained inflammation, immune suppression, and hypercatabolism, the mechanisms of which remain unclear. Coagulopathy, which frequently accompanies critical illness, has been suggested to be associated with PIICS; however, few studies have directly investigated this relationship. We hypothesized that the timing of onset of disseminated intravascular coagulation (DIC), a representative form of coagulopathy, is associated with the development of PIICS and aimed to clarify their relationship.</p><p><strong>Methods: </strong>This study included 100 patients admitted to the intensive care unit (ICU) for ≥ 15 days. PIICS was defined as meeting at least two of the following: elevated C-reactive protein (CRP) level, decreased serum albumin (Alb) level, and decreased lymphocyte count. The primary outcome was the association between the timing of DIC and PIICS development. For each ICU day (days 1-15), risk ratios (RRs) for PIICS were calculated using 2 × 2 contingency tables comparing DIC-positive and DIC-negative patients, and statistical significance was assessed using Fisher's exact test. Multivariable logistic regression analysis was performed to estimate adjusted associations with PIICS development. Statistical analyses were performed via R software. Variables for logistic regression were selected based on previous literature and clinical relevance, with significance level set at p < 0.05.</p><p><strong>Results: </strong>From approximately day 8 onward, the RR of PIICS in patients with DIC showed an increasing trend. In multivariable analysis, age, cumulative CRP level, and cumulative SOFA score were independently associated with PIICS development. The logistic regression model demonstrated good discrimination (AUC of 0.80).</p><p><strong>Conclusions: </strong>DIC occurring after approximately day 8 of ICU admission may be associated with an increased risk of PIICS development. These findings suggest that persistent coagulopathy during the middle phase of ICU stay may contribute to the pathogenesis of PIICS.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13656447/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148456882","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":"Urinary 11-dehydrothromboxane B2 as a dynamic biomarker of atherosclerotic thrombotic risk and its association with plaque instability.","authors":"Lianbiao Shan, Xin Wang, Yingrui Gu, Xiaodong Deng","doi":"10.1186/s12959-026-00885-2","DOIUrl":"10.1186/s12959-026-00885-2","url":null,"abstract":"<p><strong>Background: </strong>Atherosclerosis is the main pathological basis of cardiovascular events. Urinary 11-dehydrothromboxane B 2 (11-dhTXB2), as a stable metabolite of Thromboxane (TX) A2, may reflect platelet activity and plaque stability, but its mechanism is not clear.</p><p><strong>Methods: </strong>A total of 160 patients with atherosclerosis were enrolled in this study. The correlation between urinary 11-dhTXB2 level and plaque morphology and inflammation index was detected. The effects of 11-dhTXB2 on macrophage polarization and endothelial barrier function were investigated by THP-1 macrophage and HUVEC co-culture model and ApoE^-/- mouse model, and the intervention effects of curcumin and aspirin were evaluated.</p><p><strong>Results: </strong>High levels of urinary 11-dhTXB2 were significantly associated with thinner fibrous cap and increased inflammatory markers, especially in diabetic patients with atherosclerosis and aspirin resistance. Cell experiments showed that activation of the TXA2 pathway (as indicated by elevated urinary 11-dhTXB2) promoted macrophage M1 polarization and impaired endothelial connexin expression. The combination of curcumin and aspirin can synergistically reduce urinary 11-dhTXB2, reduce plaque area and improve plaque stability. Notably, urinary 11-dhTXB2 serves as a stable metabolite reflecting in vivo TXA2 production and platelet activation, but is not itself a functional ligand acting on macrophages or endothelial cells.</p><p><strong>Conclusion: </strong>Urinary 11-dhTXB2 can be used as a dynamic monitoring biomarker for the risk of atherosclerotic thrombosis. Elevated TXA2 pathway activity aggravates plaque instability by promoting inflammation and endothelial dysfunction. Curcumin combined with aspirin has the potential for synergistic intervention and provides a new strategy for individualized prevention and treatment.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13651396/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148449708","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":"The PH score: a practical tool for screening myeloproliferative neoplasms in acute portal vein thrombosis.","authors":"Hikmet Öztop, Nevriye Gül Ada Tak, Fatih Eren, Fazıl Çağrı Hunutlu, Gökhan Ocakoğlu","doi":"10.1186/s12959-026-00892-3","DOIUrl":"10.1186/s12959-026-00892-3","url":null,"abstract":"<p><p>Portal vein thrombosis (PVT) is a rare but clinically significant condition often associated with myeloproliferative neoplasms (MPNs). Diagnosing MPNs in acute PVT may be difficult, particularly in the absence of overt hematologic abnormalities. We retrospectively analyzed 93 patients with acute PVT from January 2009 to June 2024, excluding those with chronic thrombosis or previously established systemic diseases. MPNs were identified in 23 patients (24.7%). Hemoglobin (Hb), platelet count (Plt) and inflammatory indices (PLR, SII, and PIV) were associated with MPNs in univariate analyses (p < 0.05), while Hb and Plt were retained as independent predictors in a parsimonious multivariable logistic regression model. Based on these parameters, the PH score was developed: PH = (0.510 × Hb) + (0.006 × Plt) - 9.470. The model demonstrated acceptable discriminative performance, with an apparent AUC of 0.864 in the training cohort and an AUC of 0.820 on internal validation in the overall cohort, using an optimal cut-off value of - 1.016. The PH score may act as a straightforward laboratory tool to aid in early risk stratification for patients with acute PVT, complementing, but not replacing, the standard diagnostic evaluation.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13334748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148382831","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":"Association between intermittent pneumatic compression use and deep vein thrombosis in hospitalized adult medical patients: a retrospective single-center case-cohort study in Japan.","authors":"Daichi Arakaki, Mitsunaga Iwata, Teruhiko Terasawa","doi":"10.1186/s12959-026-00894-1","DOIUrl":"10.1186/s12959-026-00894-1","url":null,"abstract":"<p><strong>Background: </strong>Clinical practice guidelines of venous thromboembolism prophylaxis for acutely ill hospitalized medical patients recommend intermittent pneumatic compression (IPC) devices as a mechanical thromboprophylaxis option for those at high risk for bleeding. However, supporting evidence focusing on this patient population is limited.</p><p><strong>Methods: </strong>This case-cohort study used a university hospital-based retrospective cohort to assess the association between IPC use and lower-extremity deep vein thrombosis (DVT) development within 30 days of admission among inpatients in Japan. The parental cohort included 3876 consecutive acutely ill patients aged 15 years and older admitted to a general internal medicine department between July 2016 and July 2021. Weighted multivariable survival models and analyses that additionally accounted for time-varying covariate effects and competing risks were employed.</p><p><strong>Results: </strong>In total, 52 patients who developed lower-extremity DVT within 30 days (9/52 [17%] with proximal lower-extremity DVT) and 144 who did not were finally included as cases and non-cases, respectively. Patients highly at risk for developing DVT, as classified by the proposed risk prediction scores, used IPC devices more frequently (p for trend range = 0.004-0.015). However, the association between pharmacologic prophylaxis frequency and the risk group demonstrated no difference. In the multivariable weighted Cox model, the adjusted point estimate indicated a lower risk of developing VTE associated with IPC use, although this result was not significant (hazard ratio [HR] = 0.23; 95% confidence interval [CI]: 0.03-1.56; p = 0.22). Regarding sensitivity, multivariable models accounted for both nonproportional hazards and deaths from non-DVT causes as competing risks showed that IPC use was significantly associated with reduced VTE development risk (HR = 0.16; 95% CI: 0.03-0.94; p = 0.04); however, the CI was wide.</p><p><strong>Conclusions: </strong>Evidence on the association between IPC use versus nonuse and reduced VTE risk in general medical inpatients remains inconclusive. Given that conducting randomized clinical trials requires substantial costs and resources, further research should focus on multicenter, practice-based, prospective studies with larger sample sizes.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13599077/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148377002","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":"Anticoagulation therapy for Lemierre syndrome: a comprehensive review and individual participant data analysis.","authors":"Haruka Tsuda, Yusuke Miyazato, Shuri Nakao, Takahiro Tsuge, Norio Yamamoto, Yoshitaka Wada, Yuki Kataoka","doi":"10.1186/s12959-026-00889-y","DOIUrl":"10.1186/s12959-026-00889-y","url":null,"abstract":"<p><strong>Background: </strong>Lemierre's syndrome is a life-threatening infection characterized by septic thrombophlebitis of the internal jugular vein and septic embolism. Antimicrobial therapy is an established treatment for Lemierre's syndrome; however, its role in anticoagulation therapy remains unclear.</p><p><strong>Objective: </strong>To evaluate the association between anticoagulation therapy initiated concurrently with antimicrobial therapy and the clinical outcomes in patients with Lemierre syndrome.</p><p><strong>Methods: </strong>We comprehensively searched the PubMed, Embase, and Ichushi databases for case reports, case series, and cohort studies. Lemierre syndrome was defined as (1) a preceding oropharyngeal infection and (2) internal jugular vein thrombophlebitis or septic pulmonary emboli confirmed by imaging or pathology. We performed a case-control analysis and estimated odds ratios using multivariate logistic regression after adjusting for potential confounders.</p><p><strong>Results: </strong>Of the 2051 screened records, internal jugular vein thrombus progressed in 15 patients (7.18% [15/209]) who received anticoagulation therapy and in 21 patients (18.8% [21/112]) who did not. The median age of the patients was 25 years (interquartile range, 18-45 years), and the baseline characteristics were generally balanced between the anticoagulated and non-anticoagulated patients. For the primary outcome of thrombus progression, anticoagulation therapy was associated with a significantly lower risk compared with no anticoagulation therapy (multiple imputation odds ratio 0.34, 95% CI 0.16-0.70). We observed no clear differences in the incidence of new septic pulmonary emboli (multiple imputation odds ratio 0.45, 95% CI 0.18-1.13) or major bleeding events (multiple imputation odds ratio 1.50, 95% CI 0.44-5.08).</p><p><strong>Conclusion: </strong>Our study suggests that although anticoagulation therapy is associated with a significantly reduced risk of IJV thrombus progression, it does not confer a clear benefit for other clinically important outcomes, such as new septic pulmonary emboli or mortality. Therefore, routine initiation of anticoagulation therapy may not be supported for Lemierre syndrome, particularly when the thrombus is limited to the internal jugular vein. Further well-designed observational studies are warranted.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":"24 1","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13317357/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148353506","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":"Association between D-dimer difference and risk of postoperative venous thromboembolism in endometrial cancer: a retrospective cohort study.","authors":"Weipeng Li, Hui Zheng, Lan Zhen, Qian Qiu, Leilei Zhu, Rong Zhang, Huan Yi","doi":"10.1186/s12959-026-00893-2","DOIUrl":"10.1186/s12959-026-00893-2","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the association between D-dimer level changes and venous thromboembolism (VTE) risk in endometrial cancer patients undergoing surgery.</p><p><strong>Methods: </strong>This retrospective cohort study included 307 endometrial cancer patients who underwent surgical treatment at Fujian Maternity and Child Health Hospital between January 2022 and December 2024, with follow-up to December 2025. D-dimer change was the exposure variable and VTE occurrence the outcome. Multivariable logistic regression assessed independent effects after adjusting for 17 covariates, including age, body mass index, FIGO stage, and comorbidities. Threshold effect and stratified analyses were conducted.</p><p><strong>Results: </strong>Each one-unit increase in D-dimer change was significantly associated with higher VTE risk (adjusted OR = 1.202; 95% CI: 1.076-1.342; P = 0.001). Nonlinear testing revealed a significant threshold effect (P < 0.001) at 3.78: below this threshold, VTE risk increased sharply (OR = 7.761; 95% CI: 4.286-14.051); above it, risk declined (OR = 0.643; 95% CI: 0.526-0.785). Mediation analysis showed anticoagulant therapy, infection, and caprinin had negligible mediating effects (proportion < 0.2%; P > 0.86).</p><p><strong>Conclusion: </strong>D-dimer level changes exhibit a nonlinear association with postoperative VTE risk, characterized by a distinct threshold effect. These hypothesis-generating findings suggest that monitoring D-dimer trajectories rather than absolute values may offer a novel dimension for perioperative VTE risk stratification, warranting prospective validation in multicenter cohorts before clinical application.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13576260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148340275","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":"Cerebral venous sinus thrombosis in a family with protein S deficiency: genetic analysis and phenotypic characterization.","authors":"Fengjiao Wang, Ling You, Xiaoli Chen, Fei Xu, Qiyu Xu, Mingshan Wang, Lihong Yang","doi":"10.1186/s12959-026-00888-z","DOIUrl":"10.1186/s12959-026-00888-z","url":null,"abstract":"<p><strong>Background: </strong>Protein S deficiency (PSD) markedly increases cerebral venous sinus thrombosis (CVST) risk; although global PROS1 variant data are extensive, Chinese reports remain limited.</p><p><strong>Objective: </strong>To characterize the genetic and clinical phenotypes of a family with hereditary PSD presenting as CVST, and to preliminarily explore underlying molecular pathogenesis.</p><p><strong>Methods: </strong>Clinical and coagulation data were collected from the proband and family members. CVST was confirmed by magnetic resonance venography (MRV). The coding region of PROS1 gene was sequenced, and the pathogenicity, evolutionary conservation, and functional impact of identified variant was evaluated using bioinformatics tools and Pymol software. The thrombin generation assay (TGA) was used to preliminarily assess the proband's thrombin generation capacity.</p><p><strong>Results: </strong>The proband exhibited reduced PS activity (PS: A, 59%), along with decreased total and free PS antigen levels. Similar reductions were observed in her father, two sisters, and two nephews. MRV revealed extensive CVST. Genetic sequencing identified a heterozygous missense variant c.886 A > C (p.Lys296Gln) in exon 9 of the PROS1 gene in all affected individuals. The variant was classified as variant of uncertain significance. It resides in highly conserved region, altering local hydrophilicity and hydrogen bond interactions and likely impairing PS function. The TGA results indicated that the proband's thrombin generation capacity was significantly increased.</p><p><strong>Conclusion: </strong>This study reports a PROS1-related CVST case in which inherited variant acted synergistically with modifiable prothrombotic risk factors. The findings underscore the importance of comprehensive etiological screening in unexplained thrombosis and support familial genetic counseling and surveillance for early prevention.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13555875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148319085","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":"Two cases of proteasome inhibitors related thrombotic microangiopathies and literature review.","authors":"Na An, Pengfei Shi, Can Chen","doi":"10.1186/s12959-026-00890-5","DOIUrl":"10.1186/s12959-026-00890-5","url":null,"abstract":"<p><strong>Background: </strong>Multiple myeloma (MM) is a prevalent hematological malignancy, with proteasome inhibitors (PIs) playing a crucial role in its therapeutic management. Although PIs are generally well-tolerated and associated with relatively mild side effects, recent evidence has increasingly drawn attention to proteasome inhibitor-related thrombotic microangiopathy (PI-related TMA).</p><p><strong>Case presentation: </strong>Here, we report two cases with high clinical suspicion for PI-related TMA, highlighting the diagnostic process and subsequent management strategies. Clinical suspicion of PI-related TMA prompted the discontinuation of the offending agent and consideration of plasma exchange therapy, which proved beneficial in selected patients. These case reports further facilitate a detailed discussion regarding the underlying pathogenic mechanisms and potential therapeutic approaches for PI-related TMA in MM.</p><p><strong>Conclusion: </strong>PI-related TMA is a rare but life-threatening complication in MM. Early recognition and prompt discontinuation of the offending drug are critical. Plasma exchange and eculizumab may be considered in selected cases.</p>","PeriodicalId":22982,"journal":{"name":"Thrombosis Journal","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13548530/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148309441","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}