A5022823710- Blood Coagulation and Thrombosis Mechanisms
- Platelet Disorders and Treatments
- Target Tracking and Data Fusion in Sensor Networks
- Eosinophilic Disorders and Syndromes
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Blood disorders and treatments
- Insect Pheromone Research and Control
- Antiplatelet Therapy and Cardiovascular Diseases
- Blood properties and coagulation
- Protease and Inhibitor Mechanisms
- Genetic Associations and Epidemiology
- Venous Thromboembolism Diagnosis and Management
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Hemophilia Treatment and Research
- Chronic Myeloid Leukemia Treatments
- Electrical and Bioimpedance Tomography
- Receptor Mechanisms and Signaling
- Lipoproteins and Cardiovascular Health
- Acoustic Wave Phenomena Research
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Gaussian Processes and Bayesian Inference
- Mast cells and histamine
- Acute Myeloid Leukemia Research
- Immunodeficiency and Autoimmune Disorders
- Diffusion and Search Dynamics
Banc de Sang i Teixits
2019-2024
Vall d'Hebron Institut de Recerca
2021-2024
Universitat Autònoma de Barcelona
2021-2024
Hospital de Sant Pau
2013-2023
Sociedad Española de Trombosis y Hemostasia
2019-2023
Universidad de Granada
2013-2016
Background Venous thromboembolism (VTE) is a common disease where known genetic risk factors explain only small portion of the variance. Then, analysis intermediate phenotypes, such as thrombin generation assay, can be used to identify novel that contribute VTE. Objectives To investigate basis distinct quantitative phenotypes and its relationship Patients/Methods Lag time, peak endogenous potential (ETP) were measured in families Genetic Analysis Idiopathic Thrombophilia 2 (GAIT-2) Project....
Plasma cell-free DNA (cfDNA) is a surrogate marker of neutrophil extracellular traps (NETs) that contribute to immunothrombosis. There growing interest about the mechanisms underlying NET formation and elevated cfDNA, but little known factors involved. We aimed identify genes involved in regulation cfDNA levels using data from Genetic Analysis Idiopathic Thrombophilia (GAIT-2) Project.Imputed genotypes, whole blood RNA-Seq data, plasma quantification were available for 935 GAIT-2...
Environmental noise prediction and modeling are key factors for addressing a proper planning management of urban sound environments. In this paper we propose maximum posteriori (MAP) method to compare nonlinear state-space models that describe the problem predicting environmental levels. The numerical implementation is based on particle filtering use Markov chain Monte Carlo technique improve resampling step. order demonstrate validity proposed approach particular problem, have conducted set...
Abstract Although plasminogen is a key protein in fibrinolysis and several mutations the gene ( PLG ) have been identified that result deficiency, there are conflicting reports to associate it with risk of thrombosis. Our aim was unravel genetic architecture families deficiency its relationship spontaneous thrombotic events these families. A total 13 individuals from 4 were recruited. Their profile thromboembolism characterized using Thrombo inCode kit. Only one family presented (homozygous...
Traditional genetic studies of single traits may be unable to detect the pleiotropic effects involved in complex diseases. To correlation that exists between several phenotypes same biological process, we introduce an original methodology analyze sets correlated coagulation cascade genome-wide association studies. The consists a two-stage process. First, define new phenotypic meta-variables (linear combinations phenotypes), named metaphenotypes, by applying Independent Component Analysis for...
Functional response estimation and population tracking in predator-prey systems are critical problems ecology. In this paper we consider a stochastic system with Lotka-Volterra functional propose particle filtering method for: (a) estimating the behavioral parameter representing rate of effective search per predator responseand (b) forecasting biomass using field data. particular, proposed technique combines sequential Monte Carlo sampling scheme for time-varying analytical integration...
Knowledge of the thermal conductivity is a key factor for several applications, which benefits from easy and cheap estimation procedures. We consider an existing experimental layout, we propose Rao-Blackwellized particle filter that jointly approximates posterior distribution temperatures analytically estimates unknown homogeneous mass. Its main advantage sequential conductivity. In contrast, in other approaches, all need to be stored before processing data. The results obtained with...
Venous thromboembolism is a complex disease with high heritability. There are significant associations among Factor XI (FXI) levels and SNPs in the KNG1 F11 loci. Our aim was to identify genetic variation of that might account for variability FXI levels. The loci were sequenced completely 110 unrelated individuals from GAIT-2 (Genetic Analysis Idiopathic Thrombophilia 2) Project using Next Generation Sequencing on an Illumina MiSeq. study 935 35 extended Spanish families selected through...
Acquired hemophilia A (AHA) is a rare bleeding disorder caused by the presence of autoantibodies against factor VIII (FVIII). As with other autoimmune diseases, its etiology complex and genetic basis unknown. The aim this study was to identify immunogenetic background that predisposes individuals AHA. HLA KIR gene clusters, as well KLRK1, were sequenced using next-generation sequencing in 49 AHA patients. Associations between candidate genes involved innate adaptive immune responses...
Background Association between global platelet function and the risk of venous thromboembolic disease (VTE) has been proposed, though mechanisms do not involve increased aggregation. However, adhesiveness systematically explored in VTE patients. Objectives To evaluate adhesive functions Methods Platelet adhesion was evaluated by using whole blood samples from patients, selected based on short closure times PFA-100 (n = 54), matched healthy individuals 57) in: (i) PFA-100, (ii) a cone plate...
Introduction Investigation of the molecular basis inherited bleeding disorders (IBD) is mostly performed with gene panel sequencing. However, continuous discovery new related genes underlies limitation this approach. This study aimed to identify genetic variants responsible for IBD in pediatric patients using whole-exome sequencing (WES), and provide a detailed description reclassification candidate variants. Material Methods WES was 18 patients, were filtered first-line list 290 genes....
In several countries, molecular diagnosis of haemophilia A (HA) and B (HB) is hampered by a lack resources for DNA analysis. The advent next-generation sequencing (NGS) has enabled gene analysis at reasonable cost.Describe collaboration between Cuban Spanish researchers to identify candidate variants investigate the epidemiology 106 patients using NGS.The protocol included well-established LR-PCR procedures detect F8 inversions, NGS with 30-gene panel sequence F9, multiplex...
Venous thromboembolism (VTE) is a common disease with high heritability. However, only small portion of the genetic variance VTE can be explained by known risk factors. Neutrophil extracellular traps (NETs) have been associated prothrombotic activity. Therefore, basis NETs could reveal novel factors for VTE. A recent genome-wide association study plasma cell-free DNA (cfDNA) levels in Genetic Analysis Idiopathic Thrombophilia 2 (GAIT-2) Project showed significant locus near ORM1. We aimed to...