A5038313482- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Blood groups and transfusion
- Prenatal Screening and Diagnostics
- DNA Repair Mechanisms
- Hematological disorders and diagnostics
- Acute Myeloid Leukemia Research
- Hematopoietic Stem Cell Transplantation
- Cancer-related Molecular Pathways
- Pharmacological Effects and Toxicity Studies
- Immune Cell Function and Interaction
- Blood disorders and treatments
- RNA modifications and cancer
- Oral Health Pathology and Treatment
- Genomic variations and chromosomal abnormalities
- Pneumocystis jirovecii pneumonia detection and treatment
- Neonatal Health and Biochemistry
- CAR-T cell therapy research
- Central Venous Catheters and Hemodialysis
- Chromosomal and Genetic Variations
- Fungal Infections and Studies
- Platelet Disorders and Treatments
- Antifungal resistance and susceptibility
- Head and Neck Cancer Studies
- Parvovirus B19 Infection Studies
Hospital General Universitario Gregorio Marañón
2015-2024
Universidad Complutense de Madrid
2016-2024
Instituto de Investigación de Enfermedades Raras
2020-2024
Centre for Biomedical Network Research on Rare Diseases
2020-2024
Instituto de Salud Carlos III
2020-2024
Centro de Investigación Biomédica en Red
2022-2024
Hospital Materno-Infantil
2006-2019
Hepatoblastoma (HB) is a rare disease. Nevertheless, it the predominant pediatric liver cancer, with limited therapeutic options for patients aggressive tumors. Herein, we aimed to uncover mechanisms of HB pathobiology and identify new biomarkers targets in move towards precision medicine advanced HB.We performed comprehensive genomic, transcriptomic epigenomic characterization 159 clinically annotated samples from 113 HB, using high-throughput technologies.We discovered widespread...
<h3>Background</h3> Fanconi anaemia (FA) is a rare syndrome characterized by bone marrow failure, malformations and cancer predisposition. Chromosome fragility induced DNA interstrand crosslink (ICL)-inducing agents such as diepoxybutane (DEB) or mitomycin C (MMC) the 'gold standard' test for diagnosis of FA. <h3>Objective</h3> To study variability, diagnostic implications clinical impact chromosome in <h3>Methods</h3> Data are presented from 198 DEB-induced tests patients with without FA...
Although highly prevalent throughout the world, accurate prevalence of hemoglobinopathies in Spain is unknown.This study presents data on national registry patients with thalassemia major (TM), intermedia (TI), and sickle cell disease (SCD) created 2014. Fifty centers reported cases retrospectively. Data were registered from neonatal screening or first contact at diagnosis until last follow-up death.Data 715 eligible collected: 615 SCD (497 SS, 64 SC, 54 SBeta phenotypes), 73 thalassemia, 9...
Fanconi anemia (FA) patients display an exacerbated risk of oral squamous cell carcinoma (OSCC) and potentially malignant lesions (OPMLs) at early ages. As have defects in their DNA repair mechanisms, standard-of-care treatments for OSCC such as radiotherapy chemotherapy, give rise to severe toxicities. New methods diagnosis are urgently needed allow treatment disease stages achieve better clinical outcomes. We conducted a prospective, longitudinal study wherein liquid biopsies from sixteen...
This study lays the groundwork for future lentivirus-mediated gene therapy in patients with Diamond Blackfan anemia (DBA) caused by mutations ribosomal protein S19 (RPS19), showing evidence of a new safe and effective therapy. The data show that, unlike Fanconi (FA), hematopoietic stem cell (HSC) reservoir DBA was not significantly reduced, suggesting that collection these cells should constitute remarkable restriction Subsequently, 2 clinically applicable lentiviral vectors were developed....
T cells recognize antigens via their cell surface TCR and are classified as either αβ or γδ depending on the variable chains in TCR, α β γ δ, respectively. Both TCRs also contain several invariant chains, including CD3δ, which support expression transduce signal. Mutations would be expected to affect a single lineage, while mutations all cells. Consistent with this, CD3δ-deficient patients described date showed complete block development. However, CD3δ-KO mice have an cell-specific defect....
A total of 192 pediatric patients, median age 8.6 years, with high-risk hematological malignancies, underwent haploidentical stem cell transplantation (haplo-HSCT) using post-transplantation cyclophosphamide (PT-Cy), or ex vivo T cell-depleted (TCD) graft platforms, from January 1999 to December 2016 in 10 centers Spain. Some 41 patients received an unmanipulated followed by PT-Cy for graft-vs-host disease (GvHD) prophylaxis. 151 were transplanted CD3-depleted peripheral blood cells (PBSCs)...
Diamond-Blackfan Anemia Syndrome (DBAS) is characterized by impaired erythropoiesis due to dysfunctional ribosome biogenesis and aberrant cellular signaling. Here, we investigate how ribosomal stress-induced activation of the NLRP1 inflammasome modulates erythroid differentiation in DBAS. We demonstrate that FDA/EMA-approved tyrosine kinase inhibitors (TKIs) effectively mitigate defective anemia syndrome inhibiting activation. Specifically, nilotinib enhances K562 cells through suppression...
Inherited bone marrow failure syndromes (IBMFSs) are a group of congenital rare diseases characterized by failure, anomalies, high genetic heterogeneity, and predisposition to cancer. Appropriate treatment cancer surveillance ideally depend on the identification mutated gene. A next-generation sequencing (NGS) panel genes could be 1 initial screening test carried out in comprehensive study IBMFSs, allowing molecular detection affected patients. We designed 2 NGS panels IBMFS genes: version...
Very little has been published on the use of romiplostim to treat primary immune thrombocytopenia (ITP), refractory previous treatments, in children. The objective this study was determine its efficacy and safety pediatric patients a university general hospital. Retrospective, longitudinal observational treatment with romiplostim. principal variable platelet count. Safety evaluated by recording possible adverse reactions medication, monitoring appearance thrombosis, during dose reduction,...
Abstract Fanconi anemia (FA) is characterized by chromosome fragility, bone marrow failure (BMF) and predisposition to cancer. As reverse genetic mosaicism has been described as “natural gene therapy” in patients with FA, we sought evaluate the clinical course of a cohort FA mosaic followed at referral centers Spain over 30‐year period. This includes majority T cells without chromosomal aberrations DEB‐chromosomal breakage test. Relative non‐mosaic patients, observed higher proportion adult...
Fanconi anemia (FA) patients frequently develop oral squamous cell carcinoma (OSCC). This cancer in FA is diagnosed within the first 3-4 decades of life, very often preceded by lesions that suffer a malignant transformation. In addition, they respond poorly to current treatments due toxicity or multiple recurrences. Translational research on new chemopreventive agents and therapeutic strategies has been unsuccessful partly scarcity disease models failure fully reproduce disease. Here we...
Fanconi anemia (FA) patients display an exacerbated risk of oral squamous cell carcinoma (OSCC) and precursor lesions at young ages, mainly the cavity. As have defects in DNA repair mechanisms, standard-of-care treatments to OSCC such as radiotherapy chemotherapy give rise severe toxicities. New methods for early diagnosis are urgently necessary allow disease stages achieve better clinical outcomes. We conducted a prospective, longitudinal study whereby liquid biopsies from sixteen...
Background: Several evidence-based guidelines for the management of children with febrile neutropenia (FN) have been published, special focus in bacterial and fungal infections. However, role acute respiratory infections caused by viruses (RV) has not clearly established. The aim this study was to evaluate epidemiology, clinical presentation outcome FN. Methods: Patients, <18 years age admitted Pediatric Oncology-Hematology Unit after developing FN between November 2010 December 2013,...