A5011432243- Lysosomal Storage Disorders Research
- Glycosylation and Glycoproteins Research
- Trypanosoma species research and implications
- Cellular transport and secretion
- Calcium signaling and nucleotide metabolism
- Autoimmune and Inflammatory Disorders Research
- Studies on Chitinases and Chitosanases
- Carbohydrate Chemistry and Synthesis
- Lymphoma Diagnosis and Treatment
- Galectins and Cancer Biology
- Infant Nutrition and Health
- Autism Spectrum Disorder Research
- Protein Tyrosine Phosphatases
- Cytomegalovirus and herpesvirus research
- Biochemical and Molecular Research
- Erythrocyte Function and Pathophysiology
- Genetics and Neurodevelopmental Disorders
- Child Nutrition and Feeding Issues
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Acute Lymphoblastic Leukemia research
- COVID-19 Clinical Research Studies
- Neuroendocrine Tumor Research Advances
- CNS Lymphoma Diagnosis and Treatment
- Sarcoma Diagnosis and Treatment
- RNA and protein synthesis mechanisms
Spanish Foundation for Science and Technology
2016-2025
Hospital Universitario Virgen de la Arrixaca
2015-2024
Institut d'Investigació Biomèdica de Girona
2022
Instituto de Investigación Sanitaria Aragón
2015-2022
Hospital Universitario Miguel Servet
2015-2022
Hospital Infantil Universitario Niño Jesús
2017-2021
Hospital Universitari Sant Joan de Reus
2020
Centre for Biomedical Network Research on Rare Diseases
2017-2018
Ajuntament de L’Hospitalet
2013
Universitat Autònoma de Barcelona
2013
Bone marrow infiltration (BMI), categorized as an extra-nodal site, affects stage and is associated with poor prognosis in newly diagnosed lymphoma patients. We have evaluated the accuracy of PET/CT bone biopsy (BMB) to assess BMI 372 patients [140 Hodgkin Lymphoma (HL) 232 High Grade B-cell non-Hodgkin (HG B-NHL), among them 155 Diffuse Large B-Cell (DLCL)]. For HL cases, taking into account PET/CT, sensitivity, negative predictive value (NPV) were 96.7, 99.3, 99.3% while those BMB 32.3,...
Background There is limited evidence on the effectiveness of biological therapy in stricturing complications patients with Crohn’s disease. Aim The study aims to determine anti‐tumor necrosis factor (TNF) agents disease complicated symptomatic strictures. Methods In this multicentric and retrospective study, we included adult receiving their first anti‐TNF therapy, no previous history biological, endoscopic or surgical therapy. agent was defined as a composite outcome combining steroid‐free...
SARS-CoV-2 infection activates macrophages and induces the release of neutrophil extracellular traps (NETs). Excess NETs is linked to inflammatory thrombotic complications observed in COVID-19. To explore impact macrophage activation on SARS-CoV-2-infected patients who developed complications. We included 30 from first (March 2020) second wave (July 2021), collecting two plasma samples at diagnosis seven days later. Data demographics, comorbidities, basic analytical data were compiled....
Abstract Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and totally disabling. Three genes have been identified cause RTT: MECP2 , CDKL5 FOXG1 . However, the etiology of some RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because quickness affordability method. To evaluate usefulness NGS in diagnosis, we present study RTT-like using different techniques based on this...
Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history have changed. However, there remain unmet needs such as identification patients at risk developing bone crisis during late complications cancer or parkinsonism. The Spanish Disease Registry worked since 1993 to compile demographic, clinical, genetic, analytical, imaging follow-up data from more than 400 patients. aims this study were discover correlations between...
Alterations in the levels of serum sphingolipids and phospholipids have been reported Gaucher disease Parkinson's disease, suggesting a potential role these lipids as biomarkers. This project's objective is to detect novel associations candidate biomarkers largest Spanish Parkinson diseases Iberian Peninsula. For that, 278 participants were included: 100 sporadic patients, 70 15 GBA1-mutation-carrier patients 93 controls. A lipidomics array including 10 phospholipid groups, 368 species, was...
Abstract Background Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3–5 mg/kg once weekly. Survival rates in the second two clinical trials was greater, despite recruiting more severely ill patients, probably related to higher initial and maximal doses. We aimed evaluate effective pharmacokinetics pharmacodynamics when administered severe WD 5 twice weekly, an intensive regimen which not assessed trials. Methods recruited 3 receiving measured LAL...
Abstract Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since gene located on X chromosome, chromosome inactivation (XCI) could play role wide range of phenotypic variation RTT patients; however, classical methylation-based protocols to evaluate XCI not determine whether preferentially inactivated carried mutant or wild-type allele. Therefore, we developed an allele-specific assay methylation at loci several recurrent mutations. We...
Abstract Background Gaucher disease (GD), caused by a deficiency in acid β-glucosidase, leads to the accumulation of glucosylsphingosine (GluSph), which has been used as powerful biomarker for diagnosis and follow-up GD. Our aim was perform first retrospective study GluSph Spanish patients, analyzing its relationship with classical biomarkers other parameters utility regarding treatment monitoring. Methods Classical were evaluated retrospectively standard methods total 145 subjects,...
The calcium/calmodulin-gated KCa3.1 channel regulates normal and abnormal mitogenesis by controlling K+-efflux, cell volume membrane hyperpolarization-driven calcium-entry. Recent studies suggest modulation of omega-3 fatty acids as negative modulators impaired functions in the inherited lysosomal storage disorder (LSD), Fabry disease (FD). In first part present study, we characterize murine human fibroblasts test impact on fibroblast proliferation. second, study whether is altered LSDs, FD...
Abstract Several studies have reported uneven results when evaluating the prognostic value of bone marrow biopsy ( BMB ) and PET / CT as part staging diffuse large B‐cell lymphoma DLBCL ). The heterogeneity inclusion criteria not taking into account selection collinearity biases in analysis models might explain these discrepancies. To address this issue we carried a retrospective multicenter study including 268 patients with available at diagnosis where estimated both prognosis impact...
Patients with advanced non-small cell lung cancer (NSCLC) may benefit from chemotherapy (1)(2). This type of treatment is highly toxic and expensive, patients should be monitored to detect those in whom the disease progresses despite avoid ineffective a loss quality life. Tumor markers are useful for detecting progression undergoing (3)(4), but there no uniform criteria establishing how large difference between two consecutive measurements indicate disease. The first step dynamic assessment...
In the workup of follicular lymphoma (FL), bone marrow biopsy (BMB) assessment is a key component FLIPI and FLIPI2, most widely used outcome scores. During previous decade, several studies explored role FDG-PET/CT for detecting nodal extranodal disease, with only one large study comparing both techniques.The aim our was to evaluate diagnostic accuracy prognostic impact procedures in retrospective cohort 299 FL patients tests performed at diagnosis. order avoid collinearity bias, FLIPI2...
Background: Assessment of bone marrow infiltration (BMI) is part the initial staging mantle cell lymphoma (MCL), although BMI evaluated by biopsy (BMB) not considered significant in MIPI scales, and standardized recommendations remain lacking. Objectives: To evaluate accuracy prognostic impact assessed PET/CT BMB a large series MCL patients. Methods: We deconstructed IPI-NCCN, MIPI, MIPI-c indices as positive if indicated BMB, scan, or combination both. Results: In total cohort (n = 148),...