Büşra Daştan İnce, Zeynelabidin Ozturk, Nilgün Eroğlu, Hasibe Gökçe Çinar, Bahriye Uzun Kenan, Ali Fettah
{"title":"An exceptional presentation of nephrotic syndrome: bilateral massive pulmonary embolism.","authors":"Büşra Daştan İnce, Zeynelabidin Ozturk, Nilgün Eroğlu, Hasibe Gökçe Çinar, Bahriye Uzun Kenan, Ali Fettah","doi":"10.1097/MBC.0000000000001353","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001353","url":null,"abstract":"<p><p>Venous thromboembolism (TE) and arterial TE are rare in children, but can cause severe morbidity and mortality. The incidence of TE is 8.6-57 per 100 000 among hospitalized children and 0.14-0.9 per 100 000 in the general pediatric population. The risk of TE is increased in pediatric nephrotic syndrome (NS) patients. The incidence of thromboembolic complications in pediatric NS patients is approximately 3%. Herein we report a pediatric patient that presented with massive bilateral pulmonary embolism (PE) in whom the underlying condition was NS. At the onset of the clinical course the clinical findings were attributed to heart failure and, therefore, the diagnosis and treatment of NS was delayed. Based on the presented case, we think that clinicians should consider NS in pediatric patients with PE when hypoalbuminemia, diffuse edema, and massive proteinuria are present, and that timely initiation of NS treatment and concomitant administration of TE treatment can yield positive results. We further think that pediatric patients diagnosed with PE that have concomitant hypoalbuminemia, generalized edema, and massive proteinuria should be considered to have NS and that treatment for NS should be started without delay and concomitantly with TE treatment in order to achieve a positive result.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143575688","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}
Igor Vasković, Marija Marković, Ivo Udovičić, Ljiljana Arsenović, Mihailo Stojić, Aleksandra Ignjatović, Dragana Jovanović, Vojislava Nešković
{"title":"Effectiveness of different anticoagulation regimens in critically ill patients - experience from COVID 19 patients.","authors":"Igor Vasković, Marija Marković, Ivo Udovičić, Ljiljana Arsenović, Mihailo Stojić, Aleksandra Ignjatović, Dragana Jovanović, Vojislava Nešković","doi":"10.1097/MBC.0000000000001354","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001354","url":null,"abstract":"<p><p>This study compared the efficacy of therapeutic anticoagulation guided by anti-Xa levels vs. a D-dimer-based protocol in ICU patients with COVID-19. Given the heightened risk of thrombosis despite anticoagulation therapy in some cases, we hypothesised that anti-Xa measurement improves anticoagulation effectiveness and clinical outcomes in this population. We retrospectively analysed data from ICU patients at COVID Hospital Karaburma between April 2020 and December 2021. The primary outcome was the incidence of failed noninvasive ventilation necessitating intubation. Secondary endpoints included mortality rates, thromboembolic and bleeding complications, and anticoagulation effectiveness assessed by antifactor Xa activity. The analysis included 395 patients - 137 in the anti-Xa group and 258 in the D-dimer group. The D-dimer group showed a higher rate of failed noninvasive ventilation requiring intubation (65.7% vs. 50%, P = 0.009). The overall mortality was 48.3%, significantly higher in the D-dimer group (52.7%) compared to the anti-Xa group (40.1%, P = 0.02). Thromboembolic complications were lower in the anti-Xa group (2.9%) than in the D-dimer group (9.7%, P = 0.014), with no significant difference in bleeding. Following the first LMWH administration, 70.8% of patients had anti-Xa levels below the therapeutic and 11.7% below the prophylactic range. Anti-Xa-guided anticoagulation improves survival and reduces thromboembolic complications compared to D-dimer-based treatment without increasing bleeding risk. This study highlights the potential of the anti-Xa assay in managing anticoagulation in critically ill COVID-19 patients. Our findings provide a foundation for future research on using anti-Xa measurements as a guiding tool to optimise anticoagulation therapy in other critically ill populations.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143571866","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}
Kush Wangoo, Vinh Dat David Nguyen, Karen Byth, Rajesh Malik, Andrew Coggins
{"title":"Massive transfusion protocol prediction decision aids in an Australian trauma setting.","authors":"Kush Wangoo, Vinh Dat David Nguyen, Karen Byth, Rajesh Malik, Andrew Coggins","doi":"10.1097/MBC.0000000000001338","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001338","url":null,"abstract":"<p><strong>Background: </strong>Trauma patients may require activation of an emergent massive transfusion protocol (MTP). Several decision aids are designed to predict massive transfusion requirements but have not been widely studied in the Australasian setting.</p><p><strong>Methods: </strong>Commonly used MTP decision aids were assessed for accuracy in injured patients at an urban Level 1 trauma centre. Consecutive cases were prospectively enrolled to a complete registry of thromboelastogram assays in trauma patients. Analysis was undertaken using receiver operating characteristic (ROC) curves, sensitivity and specificity.</p><p><strong>Results: </strong>A total of 114 patients met inclusion criteria (56 received MTP). More detailed and military derived scores including McLaughlin and Larson demonstrated >90% specificity. Area under ROC curve results were similar to prior reports, but the ABC score performed less accurately than expected.</p><p><strong>Conclusion: </strong>In the setting of traumatic haemorrhage, the available MTP prediction decision aids should be applied cautiously and used only in combination with on-going clinical judgement.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":"36 2","pages":"58-61"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370163","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}
Alyssa Qian, Armita Zandi, Regan Bucciol, Maha Othman
{"title":"The role of neutrophil-to-lymphocyte ratio and platelet-to-lymphocyte ratio as venous thromboembolism predictors in breast cancer patients pre- and post-therapy.","authors":"Alyssa Qian, Armita Zandi, Regan Bucciol, Maha Othman","doi":"10.1097/MBC.0000000000001341","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001341","url":null,"abstract":"<p><strong>Objectives: </strong>Breast cancer (BC) accounts for 12.3% of all cancer-associated venous thromboembolism (VTE). Platelet-to-lymphocyte ratio (PLR) and neutrophil-to-lymphocyte ratio (NLR) are recognized inflammatory biomarkers but have not been incorporated into thrombosis risk stratification models. We evaluated NLR and PLR as predictive biomarkers for VTE in BC patients to determine their optimal predictive cutoffs and net predictive value before and after treatment.</p><p><strong>Methods: </strong>We conducted a prospective pilot study that involved 56 women with BC, recruited prior to treatment (chemotherapy and immunotherapy) initiation with at least 6-month monitoring for VTE. NLR and PLR were assessed pre and posttreatment.</p><p><strong>Results: </strong>Five patients (8.9%) developed VTE. NLR and PLR increased significantly posttreatment (P = 0.001). Post, not pretreatment, NLR (P = 0.029) and PLR (P = 0.033) were significantly associated with VTE occurrence. Receiver Operating curve analysis indicated enhanced predictive capacity for VTE postimmunotherapy. Optimal posttreatment cutoffs were 3.6 for NLR and 280 for PLR, aligning with existing literature, with slightly elevated NLR.</p><p><strong>Conclusions: </strong>Posttreatment NLR and PLR have higher predictability for VTE in patients receiving immunotherapy compared to chemotherapy. NLR outperforms PLR, particularly postimmunotherapy. This data holds promise for thrombosis risk stratification in the context of immunotherapy but requires evaluation in larger studies.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":"36 2","pages":"62-67"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370178","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":"Two patients with protein S deficiency and cerebral venous sinus thrombosis: nonsense mutations of the PROS1 gene may account for these deficiencies.","authors":"Lingling Hou, Xiaoli Chen, Haixiao Xie, Ke Zhang, Yanhui Jin, Minshan Wang, Lihong Yang, Fei Xu","doi":"10.1097/MBC.0000000000001343","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001343","url":null,"abstract":"<p><p>Cerebral venous sinus thrombosis (CVST) is a rare and atypical thrombotic condition, particularly prevalent among young adults, with a complex cause. In July and October 2023, two patients were diagnosed with hereditary protein S deficiency (PSD) presenting with CVST at the Department of Neurology, the first affiliated hospital of Wenzhou Medical University. This study analysed the phenotypes and gene mutations in two hereditary PSD pedigrees to investigate the link between hereditary PSD and CVST. A total of 11 individuals from these two pedigrees were involved. We measured protein S activity (PS:A) and total protein S antigen (TPS:Ag), and free protein S antigen (FPS:Ag) for all participants, screened them for mutations in the protein S1 (PROS1) gene. Both probands with CVST were diagnosed at a young to middle age. The concurrent reductions in PS:A, TPS:Ag, and FPS:Ag levels observed in the probands and their family members (A-I2, A-II1, A-II2, A-II3, A-III1, A-III2, B-I2) indicate type I PSD. Gene analysis unveiled two heterozygous nonsense mutations, c.1687C>T (p. Gln563∗) and c.1680T>A (p. Tyr560∗), in exon 14 of the PROS1 gene for pedigrees A and B, respectively. The reduced protein S levels in the probands and their relatives, along with CVST in both probands, are all linked to nonsense mutations p. Gln563∗ and p. Tyr560∗ in the PROS1 gene.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":"36 2","pages":"51-57"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370180","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":"Rare coagulation factor deficiencies: a five-year experience from a single tertiary care center in South India.","authors":"Nivedita Suresh, Bitty Kurian, Reshma Jeladharan, Amrita Sao, Neeraj Sidharthan, Reema Miria Abraham","doi":"10.1097/MBC.0000000000001339","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001339","url":null,"abstract":"<p><strong>Objective: </strong>Rare coagulation factor deficiencies (RCFD) comprise a heterogeneous class of coagulation disorders due to deficiencies/abnormalities in coagulation factors other than factors VIII, IX and von Willebrand factor (VWF). Due to its rarity and varying geographic prevalence, bleeding characteristics and behaviour pattern are not known. Our aim was to study the frequency and clinical profile of RCFD, assess the severity of deficiency, evaluate blood component requirements and surgical outcomes.</p><p><strong>Methods: </strong>This is a retrospective cohort study done at Advanced Coagulation Laboratory, Amrita Hospital, Kerala from September 2018 to October 2023. Clinical characteristics including bleeding phenotype were noted. The patients were diagnosed based on their complete coagulation workup.</p><p><strong>Results: </strong>Total of 1019 patients were evaluated, 93 (9.1%) patients had RCFD. Males and females were 60 (64.5%) and 33 (35.5%), respectively (M : F ratio 2 : 1). Median age at diagnosis was 26 years (range: 2 months-74 years). Half the patients (47) had bleeding episodes, 23 (25%) patients were detected incidentally and 23 (25%) patients as a part of preoperative evaluation. Mucocutaneous bleeding was the commonest symptom. The most common RCFD was factor VII deficiency (40%). Transfusion/hemostatic support was required for 29 (31.2%) patients during their life time. No adverse outcome was noted in 27 (29%) patients who underwent surgeries.</p><p><strong>Conclusion: </strong>Factor VII deficiency was the commonest RCFD. Only half of the patients with RCFD were symptomatic. RCFDs generally have a favorable surgical/ pregnancy outcome. Data from resource limited settings are lacking; more studies are required to formulate management guidelines.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":"36 2","pages":"37-43"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370168","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}
Bingqing Luo, Xia Wu, Jing Zhu, Shu Chen, Shifeng Lou, Xiaoyan Tan
{"title":"Compound heterozygous mutations (p.L68R∗37 and p.T241N) lead to abnormal protein levels and structures in hereditary FVII deficiency.","authors":"Bingqing Luo, Xia Wu, Jing Zhu, Shu Chen, Shifeng Lou, Xiaoyan Tan","doi":"10.1097/MBC.0000000000001340","DOIUrl":"10.1097/MBC.0000000000001340","url":null,"abstract":"<p><strong>Background: </strong>Congenital factor VII (FVII) deficiency is a genetic disorder characterized by decreased FVII activity, which sometimes leads to fatal bleeding. Numerous variants have been found in FVII deficiency, but mutations vary among patients. Each mutation deserves further exploration for each patient at risk of bleeding. We previously reported a Chinese patient with p.L68R∗37 and p.T241N compound heterozygous mutations. In this study, we further investigated the impact of these two mutations on the FVII expression through in vitro expression experiments.</p><p><strong>Methods: </strong>Mutations were introduced into the FVII coding region using site-directed mutagenesis, and recombinant FVII was combined with two different plasmids, and then quantitative PCR and western blot analyses were performed subsequently.</p><p><strong>Results: </strong>The p.L68R∗37 mutation had no effect on mRNA levels but caused a significant decrease in protein levels. In the p.T241N mutant vector, mRNA levels did not show a noticeable decrease, but protein levels exhibited a slight decrease. Structural analysis revealed that the p.T241N mutation resulted in an altered secondary structure and protein instability, indicating impaired functional properties.</p><p><strong>Conclusion: </strong>Our study demonstrated that the p.L68R∗37 and p.T241N mutations impacted the protein levels and function of FVII, ultimately leading to a severe reduction in FVII activity. This study may contribute to further understanding of the molecular pathogenesis of FVII deficiency and offer insights for genetic counseling.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":"44-50"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789605/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999595","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":"Who is currently dying from pulmonary embolism? Analysis of the US National Vital Statistics System.","authors":"Camilla Mattiuzzi, Giuseppe Lippi","doi":"10.1097/MBC.0000000000001344","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001344","url":null,"abstract":"","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":"36 2","pages":"68-69"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370181","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}
Imran Malik, Paul Priest, Ian Jennings, Keith Gomez
{"title":"Time-in-therapeutic range falls as the target international normalized ratio range increases in patients on warfarin.","authors":"Imran Malik, Paul Priest, Ian Jennings, Keith Gomez","doi":"10.1097/MBC.0000000000001347","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001347","url":null,"abstract":"<p><p>The main objective was to assess whether the time-in-therapeutic range (TTR) in patients on warfarin is affected by the international normalized ratio (INR) range. We also evaluated whether the performance of the INR is negatively impacted as its absolute value increases. First, we extracted key performance indicators of the INR from 22 surveys of the UK National External Quality Assurance Scheme (NEQAS). We then analysed TTR in 6584 warfarin monitoring episodes that were categorized by range and indication. NEQAS surveys in which the sample INR was above 3.0 had more participants outwith consensus with higher coefficient of variation and standard error mean. The outwith consensus percentage was correlated with the mean reported INR value. In warfarinised patients, we found that the TTR was lower at INR ranges above the standard 2.0 to 3.0. We concluded that the performance of the INR assay decreases at higher values. Furthermore, increasing the INR range above the standard 2.0 to 3.0 in warfarinised patients has an adverse effect on TTR. This is important because the INR range may be increased to try and improve efficacy, whereas these data suggest that it may have the opposite effect.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143456797","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":"Concurrent hemophagocytic lymphohistiocytosis and thrombotic microangiopathy in a patient with Epstein-Barr virus infection and gastric adenocarcinoma: the puzzle started with microangiopathic hemolytic anemia.","authors":"Kehua Zhou, Aniqa Faraz, Yazhini Vallatharasu","doi":"10.1097/MBC.0000000000001349","DOIUrl":"https://doi.org/10.1097/MBC.0000000000001349","url":null,"abstract":"<p><p>Malignancy-associated-hemophagocytic lymphohistiocytosis (HLH) is rare and often seen in high-grade lymphomas and acute leukemias; solid-tumor-associated HLH is extremely uncommon. The diagnosis of malignancy-associated-HLH remains challenging in clinical practices as it masquerades as and coexists with many other conditions. Here we presented a case with concurrent solid-tumor-associated HLH and thrombotic microangiopathy. The patient was an 80-year-old male with microangiopathic hemolytic anemia (MAHA), progressive bi-lineage cytopenia, and active Epstein-Barr virus (EBV) infection. Extensive lab works excluded all other alternative etiologies for MAHA but B12 deficiency, malignancy, and EBV infection. Concurrently, poorly differentiated gastric adenocarcinoma-associated HLH and thrombotic microangiopathy (TMA) were confirmed with extensive lab work. This patient passed away despite high-dose dexamethasone treatment. In the paper, we also discussed the possible pathophysiology of EBV infection in the development of MAHA and HLH and reviewed the treatment options for HLH and TMA.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143456777","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}