A5082631871- Platelet Disorders and Treatments
- Blood groups and transfusion
- Hemophilia Treatment and Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Cancer-related gene regulation
- Blood Coagulation and Thrombosis Mechanisms
- Heparin-Induced Thrombocytopenia and Thrombosis
- Blood disorders and treatments
- Antiplatelet Therapy and Cardiovascular Diseases
- Autoimmune Bullous Skin Diseases
- Chronic Myeloid Leukemia Treatments
- Complement system in diseases
- Immunodeficiency and Autoimmune Disorders
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- RNA Research and Splicing
- Williams Syndrome Research
- Acute Myeloid Leukemia Research
- Aortic aneurysm repair treatments
- Renal Diseases and Glomerulopathies
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Macrophage Migration Inhibitory Factor
- RNA and protein synthesis mechanisms
- Eosinophilic Disorders and Syndromes
- Prenatal Screening and Diagnostics
Banc de Sang i Teixits
2016-2023
Universitat Autònoma de Barcelona
2017-2023
Vall d'Hebron Institut de Recerca
2017-2023
Centro de Investigación Biomédica en Red
2022
Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost conventional molecular analyses. The need for clinical characterization Spain prompted creation a multicenter project (PCM-EVW-ES) that resulted largest prospective cohort study all types disease. analysis relevant regions VWF, including intronic promoter regions, was achieved 556 individuals recruited via development simple, innovative, relatively low-cost protocol...
The diagnosis of von Willebrand disease (VWD) remains difficult in a significant proportion patients. A Spanish multicentre study investigated cohort 556 patients from 330 families who were analysed centrally. VWD was confirmed 480. Next generation sequencing (NGS) the whole coding VWF carried out all recruited patients, compared with phenotype, and final established. total 238 different mutations found, 154 not included Leiden Open Variation Database (LOVD). Of 463 found to have mutation/s....
Essentials•The differential diagnosis of acute thrombotic microangiopathy (TMA) is challenging.•To the ADAMTS13 activity < or >10% was added a next‐generation sequencing (NGS) gene panel.•The mutation p.Cys754Arg frequent in hereditary thrombocytopenic purpura.•We identified novel complement mutations and this procedure improved our diagnostic strategy.BackgroundThe 2 main forms are purpura (TTP) atypical hemolytic uremic syndrome (aHUS). Deficiency dysregulation pathway result TTP aHUS,...
Summary The diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable tendency and heterogeneous laboratory phenotype. sequencing entire VWF coding region has not yet become routine practice in diagnostic laboratories owing to its high costs. Nevertheless, nextgeneration (NGS) emerged as an alternative overcome this limitation. We aimed determine correlation genotype phenotype 92 Portuguese individuals from 60 unrelated families...
Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to the identification of >250 different mutations. It is a challenge determine pathogenic effect potential splice site mutations on VWF mRNA. This study aimed elucidate true effects 18 mRNA processing, investigate contribution next-generation sequencing vivo disease, compare findings with silico prediction. RNA extracted from patient platelets leukocytes was amplified by RT-PCR sequenced using...
Abstract The pharmacokinetic (PK) response of severe hemophilia A (HA) patients to infused factor VIII (FVIII) shows substantial variability. Several environmental and genetic factors are associated with changes in FVIII plasma levels PK. Based on the hypothesis that influencing endogenous can affect PK, contribution single-nucleotide variants (SNVs) candidate genes was investigated 51 HA patients. effects blood group, F8 variant type, von Willebrand antigen activity levels, age, weight were...
In families at risk from monogenic diseases affected offspring, it is fundamental the development of a suitable Double Factor Preimplantation Genetic Testing (DF-PGT) method for both single-gene analysis and chromosome complement screening. Aneuploidy not only major issue in advanced-maternal-age patients balanced translocation carriers, but also aneuploidy rate extremely high undergoing vitro fertilization (IVF), even young donors. To adequate NGS technology to DF-PGT strategy four...
The multimeric analysis (MA) of plasma von Willebrand factor (VWF) evaluates structural integrity and helps in the diagnosis disease (VWD). This assay is a matter controversy, being considered by some investigators cumbersome only slightly informative. centralised study 'Molecular Clinical Profile Disease Spain (PCM-EVW-ES)' has been carried out including phenotypic assessment genetic next generation sequencing (NGS) VWF gene (VWF). aim present was to evaluate role MA these patients their...
Abstract: The correct diagnosis and classification of von Willebrand disease (VWD) is difficult because the variability its clinical expression limitations laboratory methods. However, correctly diagnosing VWD important for therapy genetic counselling. A survey related to referred patients in Spain revealed local diagnostic problems at least one third cases VWD. Consequently, a Spanish multicenter study was carried out which cohort 556 from 330 families analyzed centrally. confirmed 480...
Abstract The clinical diagnosis of von Willebrand disease (VWD), particularly type 1, can be complex because several genetic and environmental factors affect factor (VWF) plasma levels. An estimated 60% the phenotypic variation is attributable to hereditary factors, with ABO blood group locus being most influential. However, recent studies provide strong evidence that nonsynonymous single nucleotide variants (SNVs) contribute VWF VIII variability in healthy individuals. This study aims...
Abstract Introduction Type 2N von Willebrand disease (VWD) is characterized by a decreased affinity of factor (VWF) for VIII (FVIII). Abnormal binding FVIII to VWF (VWF:FVIIIB), results in low plasma levels, which can lead misdiagnosis mild haemophilia A. Accurate diagnosis type VWD essential appropriate genetic counselling and therapy. This be distinguished from A vitro assays (measurement VWF:FVIIIB activity) and/or analysis. Aim To identify the current challenges treatment this provide an...
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...
Identification of qualitative variants von Willebrand disease (VWD) can be a diagnostic challenge because discrepant results obtained in the multiple laboratory tests available for its appropriate classification. We report two cases infrequent inherited VWD with unclear preliminary test panel at time first consultation and that were finally diagnosed as type 2A/IID c.8318 G > C, p.Cys2773Ser mutation 2M c.4225 T G, p.Val1409Phe mutation, respectively. The description these highlights despite...
Von Willebrand disease (VWD) is the most frequent inherited bleeding disorder caused by quantitative or qualitative defects of von factor (VWF). This protein far from simplicity constitutes a very complex molecular model, remaining unravelled yet many aspects it, even though VWF gene (VWF) was cloned already in 1985 and structure well defined. VWD diagnosis difficult to achieve significant proportion patients due both heterogeneity limitations existing test processes. The cornerstone relies...