A5028529427- Blood Coagulation and Thrombosis Mechanisms
- Venous Thromboembolism Diagnosis and Management
- Atrial Fibrillation Management and Outcomes
- Platelet Disorders and Treatments
- Hemophilia Treatment and Research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Genetic Associations and Epidemiology
- Blood properties and coagulation
- Antiplatelet Therapy and Cardiovascular Diseases
- Cancer-related gene regulation
- Cancer-related molecular mechanisms research
- Protease and Inhibitor Mechanisms
- Folate and B Vitamins Research
- Liver Disease Diagnosis and Treatment
- Heparin-Induced Thrombocytopenia and Thrombosis
- Blood groups and transfusion
- MicroRNA in disease regulation
- Diagnosis and Treatment of Venous Diseases
- Complement system in diseases
- Cardiac tumors and thrombi
- Vitamin K Research Studies
- Acute Myocardial Infarction Research
- Eosinophilic Disorders and Syndromes
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Myeloproliferative Neoplasms: Diagnosis and Treatment
Hospital de Sant Pau
2016-2025
Institut de Recerca Sant Pau
2024-2025
Instituto de Investigación de Enfermedades Raras
2024
Centre for Biomedical Network Research on Rare Diseases
2024
Instituto de Salud Carlos III
2024
Universidad Complutense de Madrid
2010-2024
Complexo Hospitalario Universitario A Coruña
2006-2023
Universidade da Coruña
2023
Sociedad Española de Trombosis y Hemostasia
1998-2021
Institut d'Investigacions Biomèdiques de Barcelona
2012-2019
Background —Recent studies have described genetic mutations that affect the risk of thrombosis as a result abnormal levels such hemostatic parameters protein C, S, and activated C resistance ratio. Although these suggest genes play part in determining variability some hemostasis-related phenotypes, relative importance influences on traits has not been evaluated. Methods Results —The contributions environmental to panel phenotypes were assessed sample 397 individuals 21 extended pedigrees....
Background: Control of oral anticoagulant treatment has been reported to be suboptimal, but previous studies suggest that patient self-management improves control. Objective: To compare the quality control and clinical outcomes in self-managed patients versus following conventional management. Design: Randomized, controlled trial. Setting: University-affiliated hospital Spain. Patients: 737 with indications for treatment. Intervention: The group (n = 368) received simple instructions using a...
Lower levels of factor VIII and von Willebrand (vWF) have been reported in individuals with blood type O compared other ABO types. However, this relationship has demonstrated only by association studies not linkage studies. Also, it is clear whether the locus exerts a functional effect directly on these plasma factors or disequilibrium another that controls factors. To distinguish between 2 possibilities, we applied new statistical methods combining tests pedigree-based sample. In contrast...
Venous thromboembolism (VTE) is a leading cause of death among patients with cancer. Outpatients cancer should be periodically assessed for VTE risk, which the Khorana score commonly recommended. However, it has been questioned whether this tool sufficiently accurate at identifying who receive thromboprophylaxis. The present work proposes new index, TiC-Onco risk to calculated time diagnosis cancer, that examines patients' clinical and genetic factors thrombosis.We included 391 outpatients...
Thrombotic diseases are among the leading causes of morbidity and mortality in world. To add insights into genetic regulation thrombotic disease, we conducted a genome-wide association study (GWAS) 6135 self-reported blood clots events 252 827 controls European ancestry belonging to 23andMe cohort research participants. Eight loci exceeded significance. Among significant results, our replicated previously known venous thromboembolism (VTE) near F5, FGA-FGG, F11, F2, PROCR ABO genes, more...
Background: Venous thromboembolism (VTE) is a life-threatening vascular event with environmental and genetic determinants. Recent VTE genome-wide association studies (GWAS) meta-analyses involved nearly 30 000 cases identified up to 40 loci associated risk, including not previously suspected play role in hemostasis. The aim of our research was expand discovery new by using cross-ancestry genomic resources. Methods: We present meta-analyzed GWAS results involving 81 669 from studies,...
Background Genetics plays an important role in venous thromboembolism ( VTE ). Factor V Leiden FVL or rs6025) and prothrombin gene G20210A PT rs1799963) are the genetic variants currently tested for risk assessment. We hypothesized that primary assessment can be improved by using scores with more markers than just ‐rs6025 ‐rs1799963. To this end, we have designed a new score called Thrombo inCode (TiC). Methods Results TiC was evaluated terms of discrimination (Δ area under receiver...
We investigated the prevalence of new recently reported mutation in prothrombin gene (20210 A) a sample 116 unrelated patients with venous thromboembolism. found 20 heterozygous carriers (17.2%, CI 95% 10.4-21.1). In comparison, we observed 13 among 201 healthy unmatched controls (6.5%, 3.5-10.8). The 20210 A seems to increase risk thrombosis 3-fold (odds ratio 3.1, 1.4-6.6). Considering only first event (n = 62) OR was 2.0 (p 0.18, NS) while those recurrent events 54) showed an 5.9 (95%...
Objective— Few comprehensive data are available on the recurrence rate of venous thrombosis in carriers thrombophilic defects from families. We prospectively determined after a first thrombotic event patients with familial thrombophilia attributable to factor V Leiden or deficiencies protein C, S, antithrombin. Methods and Results— Data were gathered during follow-up occurrence risk situations, anticoagulation treatment, events (eg, thrombosis, hemorrhage). Over mean period 5.6 years, 44 180...