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Whole F8 gene sequencing identified pathogenic structural variant in the remaining unsolved patients with severe Haemophilia A. J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-03-13 Yohann Jourdy, Nicolas Chatron, Mathilde Frétigny, Christophe Zawadzki, Anne Lienhart, Natalie Stieltjes, Pierre-Simon Rohrlich, Christel Thauvin-Robinet, Fabienne Volot, Yasmine Ferhat Hamida, Ghania Hariti, Alexandre Leuci, Yesim Dargaud, Damien Sanlaville, Christine Vinciguerra
No genetic abnormality is detected in about 1-2% of patients with severe haemophilia A using conventional genetic approaches. In these patients, deep intronic variation or disrupting genomic rearrangement could be causal. The study aimed to identify the causal variation in families with history of severe haemophilia A for whom genetic investigations failed. We performed whole gene sequencing in 8 propositi
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A novel method to quantify fibrin-fibrin and fibrin-α2AP cross-links in thrombi formed from human trauma patient plasma J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-03-09 Gael B. Morrow, Sarah Flannery, Philip D. Charles, Raphael Heilig, Timea Feller, Zoe McQuilten, Elizabeth Wake, Robert A.S. Ariens, James Winearls, Nicola J. Mutch, Roman Fischer, Mike A. Laffan, Nicola Curry
The widespread use of the anti-fibrinolytic agent, tranexamic acid (TXA), interferes with the quantification of fibrinolysis by dynamic laboratory assays such as clot lysis, making it difficult to measure fibrinolysis in many trauma patients. At the final stage of coagulation, Factor XIIIa (FXIIIa) catalyses the formation of fibrin-fibrin and fibrin-α-antiplasmin (αAP) cross-links which increases clot
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Performance Validation of the 2023 ACR/EULAR Antiphospholipid Syndrome Classification Criteria in an Antiphospholipid Syndrome Cohort J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-03-09 Yuan Zhao MD, Can Huang MD, Yangzhong Zhou MD, Wanting Qi MD, Bin Cai PhD, Chaojun Hu MD, Yijun Song MD, Tienan Zhu MD, Xiaohua Shi MD, Xinyan Liu MD, Qian Wang MD, Xinping Tian MD, Yan Zhao MD, Xiaofeng Zeng MD, Mengtao Li MD, Jiuliang Zhao MD
The 2023 ACR/EULAR Antiphospholipid Syndrome (APS) classification criteria were developed with higher specificity but lower sensitivity compared to the 2006 Sydney revised classification criteria. To validate the performance of the 2023 ACR/EULAR APS classification criteria in a large Chinese APS cohort. This was a single-center cohort study. Inclusion criteria aligned with the entry criteria of 2023
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Redox regulation of platelet function and thrombosis J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-03-08 Huimin Jiang, Dmitry Yu Nechipurenko, Mikhail A. Panteleev, Kailin Xu, Jianlin Qiao
Platelets are well-known players in several cardiovascular diseases such as atherosclerosis and venous thrombosis. There are increasing evidence demonstrating that reactive oxygen species (ROS) is generated within activated platelets. NADPH oxidase (NOX) is a major source of ROS generation in platelets. Ligand binding to platelet receptor glycoprotein VI (GPVI) stimulates intracellular ROS generation
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Emicizumab Promotes Factor Xa Generation on Endothelial Cells J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-03-08 Ammon M. Fager, Patrick Ellsworth, Nigel S. Key, Dougald M. Monroe, Maureane Hoffman
Until recently, the treatment of hemophilia A relied on FVIII replacement. However, up to 1/3 of patients with severe hemophilia A develop neutralizing alloantibodies that render replacement therapy ineffective. The development of emicizumab, a bispecific antibody that partially mimics FVIIIa, has revolutionized the treatment of these patients. However, the use of an activated prothrombin complex concentrate
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Comprehensive Domain-Specific Analysis and IgG Profiling of anti-FVIII Antibodies using a bead-based multiplex immunoassay J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-03-05 Behnaz Pezeshkpoor PhD, Ann-Cristin Berkemeier, Kerstin Herbst PhD, Thilo Albert PhD, Jens Müller PhD, Johannes Oldenburg MD
Antibodies against factor VIII (FVIII) are a major complication in the treatment of patients with severe hemophilia A (HA). The Nijmegen Bethesda assay (NBA) is the gold standard for detection of neutralizing antibodies (inhibitors). Whereas both, inhibitors and non-neutralizing antibodies (NNAbs) can be detected by immunoassays such as enzyme-linked immunosorbent assay (ELISA) and multiplex Luminex™
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Mental health in persons with von Willebrand disease in the United States – A large national database study J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-03-05 Andrew Tran MD, Emily Waller, Joana M. Mack MD, Shelley E. Crary MD, Divyaswathi Citla-Sridhar MD
There are very few large population-based studies studying mental health in persons with von Willebrand disease (PwvWD). We aim to assess prevalence of depression and anxiety in PwvWD over a period of 20 years and identify bleeding symptoms that may be more likely associated with depression and anxiety in PwvWD. This is a retrospective cohort study using a de-identified national dataset from 1,118
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Role of Microbiota-Derived Corisin in Coagulation Activation during SARS-CoV-2 Infection J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-03-05 Tatsuki Tsuruga, Hajime Fujimoto, Taro Yasuma, Corina N. D’Alessandro-Gabazza, Masaaki Toda, Toshiyuki Ito, Atsushi Tomaru, Haruko Saiki, Tomohito Okano, Manal A.B. Alhawsawi, Atsuro Takeshita, Kota Nishihama, Reoto Takei, Yasuhiro Kondoh, Isaac Cann, Esteban C. Gabazza, Tetsu Kobayashi.
Coagulopathy is a major cause of morbidity and mortality in COVID-19 patients. Hypercoagulability in COVID-19 results in deep vein thrombosis, thromboembolic complications, and diffuse intravascular coagulation. Microbiome dysbiosis influences the clinical course of COVID-19. However, the role of dysbiosis in COVID-19-associated coagulopathy is not fully understood. The present study tested the hypothesis
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Four years into the pandemic, managing COVID-19 patients with acute coagulopathy: what have we learned? J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-29 Toshiaki Iba, Jerrold H. Levy, Cheryl L. Maier, Jean M. Connors, Marcel Levi
Coagulopathy alongside micro- and macrovascular thrombotic events were frequent characteristics of patients presenting with acute COVID-19 during the initial stages of the pandemic. However, over the past 4 years, the incidence and manifestations of COVID-19-associated coagulopathy have changed due to immunity from natural infection and vaccination and the appearance of new SARS-CoV-2 variants. Diagnostic
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What is in it for the reviewer? J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-26 Suzanne C. Cannegieter, Ton Lisman
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“The portal vein in patients with cirrhosis is not an excessively inflammatory or hypercoagulable vascular bed, a prospective cohort study”: reply J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-26 Ellen G. Driever, Ton Lisman
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“The portal vein in patients with cirrhosis is not an excessively inflammatory or hypercoagulable vascular bed, a prospective cohort study”: comment from Liu et al. J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-26 Guofeng Liu, Xiaoze Wang, Xuefeng Luo
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“Guidance on the Critical Shortage of Sodium Citrate Coagulation Tubes for Hemostasis Testing”: comment from Radišić Biljak et al. J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-26 Vanja Radišić Biljak, Matea Tomas, Ivana Lapić
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“Women with severe postpartum hemorrhage have a decreased endogenous thrombin potential before delivery”: Comment from Mishima et al. J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-26 Yuko Mishima, Amir L. Butt, Kenneth E. Stewart, Kenichi A. Tanaka
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“Women with severe postpartum hemorrhage have a decreased endogenous thrombin potential before delivery”: reply J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-26 Claire de Moreuil, Yesim Dargaud, Brigitte Pan-Petesch
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Commentary on “Inhibition of cellular activation induced by platelet factor 4 via the CXCR3 pathway ameliorates Japanese encephalitis and dengue viral infections” J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-26 Steven J. Drews
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A novel technique to quantify the kinetics of blood clot contraction based on the expulsion of fluorescently labeled albumin into serum J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-22 Alina D. Peshkova, John W. Weisel, Rustem I. Litvinov
The platelet-driven contraction or retraction of blood clots has been utilized to obtain blood serum for laboratory studies, but now, clot contraction assays are used in research laboratories and clinics to assess platelet functionality. The static final extent of clot contraction measured using a clot size or expelled serum volume can be supplemented substantially with a dynamic analysis. To provide
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Involvement of peptidylarginine deiminase 4 in eosinophil extracellular trap formation and contribution to citrullinated histone signal in thrombi J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-22 Kimberly Martinod, Frederik Denorme, Severien Meyers, Marilena Crescente, Stijn Van Bruggen, Mathias Stroobants, Patrick M. Siegel, Ramesh Grandhi, Katharina Glatz, Thilo Witsch
Extracellular traps formed by neutrophils (NETs) and eosinophils (EETs) have been described in coronary thrombi, contributing to thrombus stability. A key mechanism during NET formation is histone modification by the enzyme PAD4. Citrullinated histones, the product of PAD4 activity, are often attributed to neutrophils. Eosinophils also express high levels of PAD4, but the contribution of PAD4 to EET
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Comparison of thrombotic adverse events in patients treated with factor VIII products and emicizumab using the 2018-2022 US Food and Drug Administration Adverse Event Reporting System data J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-22 Hyunjeong Cho, Ki Young Yoo, Ju-Young Shin, Eun-Kyoung Lee, BongKyoo Choi
Relatively little is known about thrombotic adverse events (AEs) of emicizumab in postmarketing real-world settings, particularly in comparison with factor VIII (FVIII) products. A recent European study reported a greater thrombotic risk of emicizumab compared with FVIII products. This drug safety study aims to investigate whether thrombotic AEs are more frequently reported for emicizumab than for
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Coagulation factor V in breast cancer: a p53-regulated tumor suppressor and predictive marker for treatment response to chemotherapy J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-19 Sara Marie Lind, Marit Sletten, Mona Hellenes, Anthony Mathelier, Xavier Tekpli, Mari Tinholt, Nina Iversen
Patients with cancer are at an increased risk of developing coagulation complications, and chemotherapy treatment increases the risk. Tumor progression is closely linked to the hemostatic system. Breast cancer tumors express coagulation factor V, an essential factor in blood coagulation. The functional role of FV during treatment with chemotherapy is poorly understood and was explored in this study
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A specific fluorescence resonance energy quenching–based biosensor for measuring thrombin activity in whole blood J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-19 Ying Dai, Colin A. Kretz, Paul Y. Kim, Peter L. Gross
At sites of vessel injury, thrombin acts as the central mediator of coagulation by catalyzing fibrin clot formation and platelet activation. Thrombin generation is most frequently measured in plasma samples using small-molecule substrates; however, these have low specificity for thrombin and limited utility in whole blood. Plasma assays are limited because they ignore the hemostatic contributions of
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The role of thromboinflammation in acute kidney injury among patients with septic coagulopathy J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-19 Toshiaki Iba, Julie Helms, Cheryl L. Maier, Marcel Levi, Ecaterina Scarlatescu, Jerrold H. Levy
Inflammation and coagulation are critical self-defense mechanisms for mitigating infection that can nonetheless induce tissue injury and organ dysfunction. In severe cases, like sepsis, a dysregulated thromboinflammatory response may result in multiorgan dysfunction. Sepsis-associated acute kidney injury (AKI) is a significant contributor to patient morbidity and mortality. The connection between AKI
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Endogenous thrombin potential and time-dependent thrombin generation parameters are independent risk factors for mortality in the general population J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-02-19 Romy de Laat-Kremers, Simona Costanzo, Mark Roest, Amalia De Curtis, Dana Huskens, Augusto Di Castelnuovo, Marisa Ninivaggi, Chiara Cerletti, Maria Benedetta Donati, Bas de Laat, Licia Iacoviello, Moli-sani Investigators
Thrombin generation (TG) is used as a global test of coagulation and is an indicator of thrombosis and bleeding risk. Until now, data on the association of TG and mortality are inconclusive. We investigated the association between TG and mortality in the prospective Moli-sani cohort ( = 21 920). TG was measured using calibrated automated thrombinography using PPP-Reagent Low. Lag time (LT), endogenous
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Density-based lipoprotein depletion improves extracellular vesicle isolation and functional analysis J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-01-24 Laura Botelho Merij, Luana Rocha da Silva, Lohanna Palhinha, Milena Tavares Gomes, Paula Ribeiro Braga Dib, Remy Martins-Gonçalves, Kemily Toledo-Quiroga, Marcus Antônio Raposo-Nunes, Fernanda Brandi Andrade, Sharon de Toledo Martins, Ana Lúcia Rosa Nascimento, Vinicius Novaes Rocha, Lysangela Ronalte Alves, Patrícia T. Bozza, Monique Ramos de Oliveira Trugilho, Eugenio D. Hottz
Blood plasma is the main source of extracellular vesicles (EVs) in clinical studies aiming to identify biomarkers and to investigate pathophysiological processes, especially regarding EV roles in inflammation and thrombosis. However, EV isolation from plasma has faced the fundamental issue of lipoprotein contamination, representing an important bias since lipoproteins are highly abundant and modulate
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Myosin light chain 6 (Myl6) interacts with kindlin-3 and is required to support integrin αIIbβ3 activation in platelets in mice J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-01-22 Zhen Xu, Ying Zhou, Hongyin Yu, Xue Chen, Yan-Qing Ma
Kindlin-3 in platelets plays an essential role in supporting integrin αβ activation, platelet spreading, aggregation, and clot retraction by binding to the integrin β cytoplasmic tail. However, the mechanism by which kindlin-3 mediates the crosstalk between integrin αβ and myosin in platelets remains unknown. To examine the role of myosin light chain 6 (Myl6) in supporting integrin αβ activation in
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Dissecting the rationale for thromboprophylaxis in challenging surgical cases J. Thromb. Haemost. (IF 10.4) Pub Date : 2024-01-04 Alfonso J. Tafur, Joseph A. Caprini
Pulmonary embolism (PE) is a leading preventable cause of death in surgical patients, and rates of fatal PE are increasing. Individual assessment, to balance the risks of thrombosis and bleeding, is the key to providing appropriate prophylaxis. The risk assessment process includes use of evidence-based guidelines, literature published since the latest guidelines, large registries, and risk scoring
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Antiphospholipid antibody solid phase–based assays: problems and proposed solutions for the 2023 ACR/EULAR classification criteria for antiphospholipid syndrome J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-23 Albert Huisman, Rolf T. Urbanus, Piet Meijer
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D-dimer Levels for the exclusion of pulmonary embolism: making sense of international guideline recommendations J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-20 Bingwen Eugene Fan, Giuseppe Lippi, Emmanuel J. Favaloro
Several international guidelines provide recommendations around the use of D-dimer testing for exclusion of pulmonary embolism, including the appropriate D-dimer threshold (or cutoff), but there is no consensus among them. We briefly discuss guideline variation, performance characteristics, and limitations of commercially available D-dimer assays in this setting, referencing the Clinical and Laboratory
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Ellinor Peerschke, PhD (1954-2023) J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-15 Barry S. Coller, Berhane Ghebrehiwet, Melissa Pessin
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SERPINH1 variants and thrombotic risk among middle-aged and older adults: a population-based cohort study J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-13 Eric Manderstedt, Christina Lind-Halldén, Christer Halldén, Johan Elf, Peter J. Svensson, Gunnar Engström, Olle Melander, Aris Baras, Luca A. Lotta, Bengt Zöller, Regeneron Genetics Center, Goncalo Abecasis, Adolfo Ferrando, Aris Baras, Michael Cantor, Giovanni Coppola, Andrew Deubler, Aris Economides, Luca A. Lotta, John D. Overton, Jeffrey G. Reid, Alan Shuldiner, Katherine Siminovitch
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The risk for venous thromboembolism and cardiometabolic disorders in offspring from thrombosis-prone pedigrees J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-09 Bengt Zöller, Jan Sundquist, Kristina Sundquist, Henrik Ohlsson
Most family studies on venous thromboembolism (VTE) have focused on first-degree relatives. We took a pedigree-based approach and examined the risk of VTE and cardiometabolic disorders in offspring from extended pedigrees according to the densities of VTE in pedigrees. From the Swedish population, we identified a total of 482 185 pedigrees containing a mean of 14.2 parents, aunts/uncles, grandparents
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Extravascular factor IX pool fed by prophylaxis is a true hemostatic barrier against bleeding J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-09 Alexandre Leuci, Nathalie Enjolras, Muriel Marano, Melanie Daniel, Marie Brevet, Philippe Connes, Yesim Dargaud
Factor (F)IX can bind to type IV collagen in the endothelial basement membrane and diffuse into extravascular spaces. Previous studies in rodents have reported a large biodistribution of FIX. The aim of the study was to evaluate the potential hemostatic activity of extravascular FIX and its role in protecting against joint bleeds. The capacity of 4 different FIX molecules (plasma-derived and recombinant)
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Mechanisms of action of an investigational new freeze-dried platelet-derived hemostatic product J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-09 Benjamin J. Kuhn, Ana Swanson, Arjun S. Cherupalla, Lisa Booth, W. Matthew Dickerson, G. Michael Fitzpatrick, W. Allan Alexander, Keith A. Moskowitz
A safe and efficacious hemostatic product with a long shelf-life is needed to reduce mortality from hemorrhage due to trauma and improve surgical outcomes for persons with platelet deficiency or dysfunction. Thrombosomes, a trehalose-stabilized, leukoreduced, pooled blood group-O freeze-dried platelet-derived hemostatic (FPH) with a 3-year shelf-life, may satisfy this need. To characterize the mechanism
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Association of pharmacologic thromboprophylaxis with clinically relevant bleeding and hospital-acquired anemia in medical inpatients: the risk stratification for hospital-acquired venous thromboembolism in medical patients study J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-09 Damien Choffat, Jean-Benoît Rossel, Drahomir Aujesky, Peter Vollenweider, Christine Baumgartner, Marie Méan
Pharmacologic thromboprophylaxis (pTPX) might exacerbate the risk of clinically relevant bleeding (CRB) and hospital-acquired anemia (HAA) in older multimorbid inpatients. We aimed to evaluate the association of pTPX use with CRB and HAA. We used data from a prospective cohort study conducted in 3 Swiss university hospitals. Adult patients admitted to internal medicine wards with no therapeutic anticoagulation
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Deficiency of thioredoxin-interacting protein results in age-related thrombocytopenia due to megakaryocyte oxidative stress J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-09 Eunju Shin, Charny Park, Taeho Park, Hyunmin Chung, Hyeyeong Hwang, Seong Ho Bak, Kyung-Sook Chung, Suk Ran Yoon, Tae-Don Kim, Inpyo Choi, Chang Hoon Lee, Haiyoung Jung, Ji-Yoon Noh
Platelets are generated from megakaryocytes (MKs), mainly located in the bone marrow (BM). Megakaryopoiesis can be affected by genetic disorders, metabolic diseases, and aging. The molecular mechanisms underlying platelet count regulation have not been fully elucidated. In the present study, we investigated the role of thioredoxin-interacting protein (TXNIP), a protein that regulates cellular metabolism
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Diagnostic value of antibody-induced procoagulant platelets in heparin-induced thrombocytopenia: communication from the ISTH SSC Subcommittee on Platelet Immunology J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-07 Jan Zlamal, Alessandro Aliotta, Lorenzo Alberio, Vivien Chen, Tamam Bakchoul, SSC Platelet Immunology of the ISTH, Ishac Nazy, Hanny Al-Samkari, Steven McKenzie, Claire Pouplard, Ruchika Sharma
Heparin-induced thrombocytopenia (HIT) is an immune-mediated prothrombotic disorder characterized by a drop in platelet count and an increased risk of thromboembolic events. The accurate diagnosis of HIT involves clinical assessment and laboratory testing with well-characterized functional tests. Recent research has shown the potential of investigating procoagulant platelet formation induced by HIT
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Group B or not group B? An association between ABO, early mortality, and organ dysfunction in major trauma patients with shock J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-07 Henry Schofield, Charlotte Lindsay, Karim Brohi, Ross Davenport
ABO blood group alters coagulation profiles in the general population and may influence outcomes after trauma. The relationship between trauma-induced coagulopathy, severe injury with hemorrhagic shock, and survival with respect to ABO group is unknown. In severe hemorrhagic trauma, we aimed to characterize the association of ABO group with admission coagulation profiles, mortality, and immune-mediated
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Management of catheter-related upper extremity deep vein thrombosis in patients with cancer: a systematic review and meta-analysis J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-07 Tzu-Fei Wang, Roger Kou, Marc Carrier, Aurélien Delluc
Patients with cancer commonly require a central venous catheter, which is associated with an increased risk of venous thromboembolism (VTE). Despite the frequent occurrence, the optimal anticoagulation management and outcomes for patients with cancer and catheter-related upper extremity deep vein thrombosis (DVT) are unclear. We performed a systematic review and meta-analysis to evaluate the rates
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Commentary on "Structural analyses of β2-glycoprotein I: is there a circular conformation?" J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-01 Stefano Lancellotti,Monica Sacco,Raimondo De Cristofaro
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Antiplatelet strategies: past, present, and future. J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-01 Livia Stanger,Adriana Yamaguchi,Michael Holinstat
Antiplatelet therapy plays a critical role in the prevention and treatment of major cardiovascular diseases triggered by thrombosis. Since the 1900s, significant progress in reducing morbidity and death caused by cardiovascular diseases has been made. However, despite the development and approval of drugs that specifically target the platelet, including inhibitors for cycloxygenase-1, P2Y12 receptor
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von Willebrand factor: aging is better? J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-12-01 Jenny Goudemand,Sophie Susen
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The common VWF variant p.Y1584C: detailed pathogenic examination of an enigmatic sequence change J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-30 Pamela A. Christopherson, Nathalie Tijet, Sandra L. Haberichter, Veronica H. Flood, Justyne Ross, Colleen Notley, Orla Rawley, Robert R. Montgomery, Zimmerman Project Investigators, Paula D. James, David Lillicrap
As knowledge of the human genome has advanced, so too has the recognition that interpretation of the pathogenic nature of sequence variants can be challenging. The von Willebrand factor () gene exhibits a significant degree of sequence variability, and the first variant associated with type 1 von Willebrand disease (VWD), c.4751 A>G, p.Y1584C, was described in 2003. However, since that time, the pathogenic
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Proteomic insights into modifiable risk of venous thromboembolism and cardiovascular comorbidities J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-27 Shuai Yuan, Fengzhe Xu, Han Zhang, Jie Chen, Xixian Ruan, Yuying Li, Stephen Burgess, Agneta Åkesson, Xue Li, Dipender Gill, Susanna C. Larsson
Venous thromboembolism (VTE) has been associated with several modifiable factors (MFs) and cardiovascular comorbidities. However, the mechanisms are largely unknown. We aimed to decipher proteomic pathways underlying the associations of VTE with MFs and cardiovascular comorbidities. A 2-stage network Mendelian randomization analysis was conducted to explore the associations between 15 MFs, 1151 blood
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Genetic and nongenetic drivers of platelet reactivity in healthy Tanzanian individuals J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-27 Vesla I. Kullaya, Godfrey S. Temba, Nadira Vadaq, Judith Njau, Collins K. Boahen, Bongani B. Nkambule, Florian Thibord, Ming-Huei Chen, Tal Pecht, Furaha Lyamuya, Vinod Kumar, Mihai G. Netea, Blandina T. Mmbaga, Andre van der Ven, Andrew D. Johnson, Quirijn de Mast
Platelets play a key role in hemostasis, inflammation, and cardiovascular diseases. Platelet reactivity is highly variable between individuals. The drivers of this variability in populations from Sub-Saharan Africa remain largely unknown. We aimed to investigate the nongenetic and genetic determinants of platelet reactivity in healthy adults living in a rapidly urbanizing area in Northern Tanzania
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Inhibition of cellular activation induced by platelet factor 4 via the CXCR3 pathway ameliorates Japanese encephalitis and dengue viral infections J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-27 Anamika Singh, Riya Ghosh, Tejeswara Rao Asuru, Surendra K. Prajapat, Garima Joshi, Kishan K. Gaur, Nishith M. Shrimali, Amrita Ojha, Naval K. Vikram, Mortimer Poncz, Manjula Kalia, Prasenjit Guchhait
Activated platelets secrete platelet factor 4 (PF4), which contributes to viral pathogenesis. Recently, we reported the proviral role of PF4 in replication of closely related flaviviruses, Japanese encephalitis virus (JEV) and dengue virus (DENV). This study aimed to investigate the detailed mechanism of PF4-mediated virus replication. PF4 or wild-type (WT) mice were infected with JEV, and host defense
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Humanization and functional characterization of enhanced coagulation factor IX variants identified through ancestral sequence reconstruction J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-26 Christopher W. Coyle, Kristopher A. Knight, Harrison C. Brown, Stephan N. George, Gabriela Denning, Gianna M. Branella, Kenneth C. Childers, P. Clint Spiegel, H. Trent Spencer, Christopher B. Doering
Laboratory resurrection of ancient coagulation factor (F) IX variants generated through ancestral sequence reconstruction led to the discovery of a FIX variant, designated An96, which possesses enhanced specific activity independent of and additive to that provided by human p.Arg384Lys, referred to as FIX-Padua. The goal of the current study was to identify the amino acid substitution(s) responsible
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Synergism of red blood cells and tranexamic acid in the inhibition of fibrinolysis J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-26 Alexandra Raska, Kata Kálmán, Barnabás Egri, Petra Csikós, László Beinrohr, László Szabó, Kiril Tenekedjiev, Natalia Nikolova, Colin Longstaff, Ian Roberts, Krasimir Kolev, Nikolett Wohner
Postpartum hemorrhage (PPH) is the leading cause of maternal death worldwide. The World Maternal Antifibrinolytic trial showed that antifibrinolytic tranexamic acid (TXA) reduces PPH deaths. Maternal anemia increases the risk of PPH. The World Maternal Antifibrinolytic-2 trial is now assessing whether TXA can prevent PPH in women with anemia. Low red blood cell (RBC) counts promote fibrinolysis by
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Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-26 Justyne E. Ross, Shruthi Mohan, Jing Zhang, Mia J. Sullivan, Loredana Bury, Kristy Lee, Isabella Futchi, Annabelle Frantz, Dara McDougal, Juliana Perez Botero, Marco Cattaneo, Nichola Cooper, Kate Downes, Paolo Gresele, Catriona Keenan, Alfred I. Lee, Karyn Megy, Pierre-Emmanuel Morange, Neil V. Morgan, Harald Schulze, Karen Zimowski, Kathleen Freson, Michele P. Lambert
Inherited bleeding, thrombotic, and platelet disorders (BTPDs) are a heterogeneous set of diseases, many of which are very rare globally. Over the past 5 decades, the genetic basis of some of these disorders has been identified, and recently, high-throughput sequencing has become the primary means of identifying disease-causing genetic variants. Knowledge of the clinical validity of a gene-disease
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Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-24 Ana Zamora-Cánovas, Belén de la Morena-Barrio, Ana Marín-Quilez, Cristina Sierra-Aisa, Christoph Male, Nuria Fernández-Mosteirin, María Trapero-Marugán, José Padilla, Pedro Garrido-Rodriguez, Ana Sánchez-Fuentes, Agustín Rodríguez-Alen, Pedro Luis Gómez-González, Nuria Revilla, María Eugenia de la Morena-Barrio, José María Bastida, Javier Corral, José Rivera, María L. Lozano
Genetic diagnosis of inherited platelet disorders (IPDs) is mainly performed by high-throughput sequencing (HTS). These short-read–based sequencing methods sometimes fail to characterize the genetics of the disease. To evaluate nanopore long-read DNA sequencing for characterization of structural variants (SVs) in patients with IPDs. Four patients with a clinical and laboratory diagnosis of Glanzmann
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Coagulation factor XIII is a critical driver of liver regeneration after partial hepatectomy J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-24 Zimu Wei, Dafna J. Groeneveld, Jelle Adelmeijer, Lauren G. Poole, Holly Cline, Anna E. Kern, Brigitte Langer, Laura Brunnthaler, Alice Assinger, Patrick Starlinger, Ton Lisman, James P. Luyendyk
Activation of coagulation and fibrin deposition in the regenerating liver appears to promote adequate liver regeneration in mice. In humans, perioperative hepatic fibrin deposition is reduced in patients who develop liver dysfunction after partial hepatectomy (PHx), but the mechanism underlying reduced fibrin deposition in these patients is unclear. Hepatic deposition of cross-linked (ie, stabilized)
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Structural architecture of the acidic region of the B domain of coagulation factor V J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-23 Bassem M. Mohammed, Katherine Basore, Brock Summers, Leslie A. Pelc, Enrico Di Cera
Coagulation factor (F)V features an A1-A2-B-A3-C1-C2 domain organization and functions as the inactive precursor of FVa, a component of the prothrombinase complex required for rapid thrombin generation in the penultimate step of the coagulation cascade. An intramolecular interaction within the large B domain (residues 710-1545) involves the basic region (BR, residues 963-1008) and acidic region (AR
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Development and validation of a clinical prediction model for 90-day venous thromboembolism risk following total hip and total knee arthroplasty: a multinational study. J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-22 Banne Nemeth,Mark Smeets,Alma Becic Pedersen,Eskild Bendix Kristiansen,Rob Nelissen,Martin Whyte,Lara Roberts,Simon de Lusignan,Saskia le Cessie,Suzanne Cannegieter,Roopen Arya
BACKGROUND The risk of venous thromboembolism (VTE) following total hip arthroplasty (THA) and total knee arthroplasty (TKA) is 1.0% to 1.5%, despite uniform thromboprophylaxis. OBJECTIVES To develop and validate a prediction model for 90-day VTE risk. METHODS A multinational cohort study was performed. For model development, records were used from the Oxford Royal College of General Practitioners
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Late-onset vitamin K deficiency bleeding in an extremely preterm infant fed an exclusively human milk-based diet. J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-17 Vimal Vasu,Shaveta Mulla,Atisha Pandya,David Card,Martin J Shearer,Paul Clarke
All newborns need extra phylloquinone (vitamin K1; K1) to prevent vitamin K deficiency bleeding (VKDB). In preterm babies, the main sources are from prophylactic K1 given at birth and thereafter intake from parenteral and/or enteral feeding. Preterm babies are at risk of late-onset VKDB if ongoing K1 supplementation is inadequate. For extremely preterm infants fed an exclusive human milk diet (EHMD)
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Periprocedural management of direct oral anticoagulants in patients with atrial fibrillation and active cancer J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-09 Joseph R. Shaw, Na Li, Jameel Abdulrehman, Steffan Frosi Stella, Melanie St John, Joanne Nixon, Alex C. Spyropoulos, Sam Schulman, Tzu-Fei Wang, Marc Carrier, James D. Douketis
Cancer and atrial fibrillation (AF) are common concurrent disorders. Direct oral anticoagulants (DOACs) are prescribed to prevent stroke in patients with AF. Patients with cancer often undergo invasive procedures for diagnostic or therapeutic purposes, necessitating interruption of anticoagulation. There are limited data to guide best periprocedural anticoagulation management practices in the setting
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Plasma from patients with vaccine-induced immune thrombotic thrombocytopenia displays increased fibrinolytic potential and enhances tissue-type plasminogen activator but not urokinase-mediated plasminogen activation J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-07 Charithani B. Keragala, James D. McFadyen, Heidi Ho, Fiona M. McCutcheon, Zikou Liu, Hannah Stevens, Paul Monagle, Sanjeev Chunilal, Robert L. Medcalf, Huyen Tran
Vaccine-induced immune thrombotic thrombocytopenia (VITT) is a rare complication of adenovirus vector-based COVID-19 vaccines. VITT is associated with markedly raised levels of D-dimer; yet, how VITT modulates the fibrinolytic system is unknown. We aimed to compare changes in fibrinolytic activity in plasma from patients with VITT, patients diagnosed with venous thromboembolism (VTE) after vaccination
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Finding a fountain of youth in the blood. J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-07 Irina Portier,Izabella Andrianova,Robert A Campbell
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Interplay of fibrinogen αEC globular domains and factor XIIIa cross-linking dictates the extensibility and strain stiffening of fibrin networks J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-07 Cristina Martinez-Torres, Jos Grimbergen, Jaap Koopman, Gijsje H. Koenderink
Fibrinogen is a plasma protein forming the fibrin scaffold of blood clots. Its mechanical properties therefore affect the risk of bleeding as well as thrombosis. There has been much recent interest in the biophysical mechanisms controlling fibrin mechanics; however, the role of molecular heterogeneity of the circulating fibrinogen in determining clot mechanical function remains poorly characterized
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Alterations in the von Willebrand factor/ADAMTS-13 axis in preeclampsia. J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-04 Lucy Neave,Mari Thomas,Rens de Groot,Andrew J Doyle,Deepak Singh,George Adams,Anna L David,Katarzyna Maksym,Marie Scully
BACKGROUND Preeclampsia is a gestational hypertensive disorder characterized by maternal endothelial activation and increased ratio of soluble fms-like tyrosine kinase-1 (sFlt-1) inhibitor to placental growth factor (PlGF). The von Willebrand factor (VWF)/ADAMTS-13 axis is of interest because of the underlying endothelial activation and clinical overlap with pregnancy-associated thrombotic thrombocytopenic
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miR10a enrichment in FVIIa-released endothelial extracellular vesicles: Potential mechanisms. J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-03 Kaushik Das,Shiva Keshava,Richard Kolesnick,Usha R Pendurthi,L Vijaya Mohan Rao
BACKGROUND Factor VIIa (FVIIa) induces the release of extracellular vesicles (EVs) from endothelial cells (EEVs). FVIIa-released EEVs are enriched with microRNA10a (miR10a) and elicit miR10a-dependent cytoprotective responses. OBJECTIVE To investigate mechanisms by which FVIIa induces miR10a expression in endothelial cells and sorts miR10a into the EVs. METHODS Activation of Elk-1 and TWIST1 expression
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Efficacy and safety of direct oral anticoagulants in splanchnic vein thrombosis: a pooled analysis of literature studies. J. Thromb. Haemost. (IF 10.4) Pub Date : 2023-11-03 Ilenia Calcaterra,Antonella Tufano,Federica Strano,Paola Rufolo,Sofia Donnarumma,Vincenzina Palermo,Francesca De Ruberto,Ernesto Cimino,Cornelia Guerrino,Paolo Conca,Gabriella Iannuzzo,Matteo Di Minno
BACKGROUND Limited evidence are available on management of splanchnic vein thrombosis (SVT). We performed a meta-analysis to evaluate safety and efficacy of Direct Oral Anticoagulants (DOACs) for SVT treatment. METHODS Studies were systematically searched in the PubMed, Web of Science and Scopus databases according to PRISMA guidelines. We assessed any recanalization, full recanalization, recurrence