A5084289915- Glioma Diagnosis and Treatment
- Lung Cancer Treatments and Mutations
- Ferroptosis and cancer prognosis
- Colorectal Cancer Treatments and Studies
- Immune cells in cancer
- Muscle Physiology and Disorders
- Radiomics and Machine Learning in Medical Imaging
- Caveolin-1 and cellular processes
- Brain Metastases and Treatment
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Cancer, Hypoxia, and Metabolism
- Cancer-related molecular mechanisms research
- Cardiomyopathy and Myosin Studies
- RNA modifications and cancer
- MRI in cancer diagnosis
- Meningioma and schwannoma management
- Neurogenetic and Muscular Disorders Research
- Neuroinflammation and Neurodegeneration Mechanisms
- Metabolism and Genetic Disorders
- Pituitary Gland Disorders and Treatments
- Genetics and Neurodevelopmental Disorders
- Lung Cancer Research Studies
- Head and Neck Surgical Oncology
- Intracerebral and Subarachnoid Hemorrhage Research
Research Institute Hospital 12 de Octubre
2013-2025
Hospital Universitario 12 De Octubre
2016-2025
Universidad Complutense de Madrid
2013-2025
Instituto de Salud Carlos III
2017-2024
Universitat Autònoma de Barcelona
2015-2024
Centre for Biomedical Network Research on Rare Diseases
2015-2024
Complejo Hospitalario Universitario de Toledo
2024
Université Paris-Est Créteil
2024
Unidad Funcional de Investigación de Enfermedades Crónicas
2023
Ricardo (United Kingdom)
2023
Glioblastomas (GBMs) are very aggressive tumors that resistant to conventional chemo- and radiotherapy. New molecular therapeutic strategies required effectively eliminate the subpopulation of GBM tumor-initiating cells responsible for relapse. Since EGFR is altered in 50% GBMs, it represents one most promising targets; however, kinase inhibitors have produced poor results clinical assays, with no clear explanation observed resistance. We uncovered a fundamental role dual-specificity...
<h3>BACKGROUND AND PURPOSE:</h3> In cerebral gliomas, rCBV correlates with tumor grade and histologic findings of vascular proliferation. Moreover, ADC assesses water diffusivity is inversely correlated grade. the present work, we have studied whether combined values improve diagnostic accuracy MR imaging in preoperative grading gliomas. <h3>MATERIALS METHODS:</h3> One hundred sixty-two patients histopathologically confirmed diffuse gliomas underwent DWI DSC. Mean were compared among groups...
We conducted a multicenter, 2-stage, open-label, phase II trial to assess the efficacy and safety of dacomitinib in adult patients with recurrent glioblastoma (GB) epidermal growth factor receptor gene (EGFR) amplification or without variant III (EGFRvIII) deletion.Patients first recurrence were enrolled 2 cohorts. Cohort A included EGFR EGFRvIII mutation. B Dacomitinib was administered (45 mg/day) until disease progression/unacceptable adverse events (AEs). Primary endpoint progression-free...
Glioblastoma (GBM) is one of the most lethal tumor types. Hypercellular regions, named pseudopalisades, are characteristic in these tumors and have been hypothesized to be waves migrating glioblastoma cells. These "waves" cells thought induced by oxygen nutrient depletion caused tumor-induced blood vessel occlusion. Although universal presence structures GBM suggests that they may play an instrumental role GBM's spread invasion, recreation vitro has remained challenging.
TAU is expressed in the less aggressive gliomas where it impairs mesenchymal transdifferentiation of tumor cells and normalizes vasculature.
Abstract Whole-brain radiotherapy (WBRT) is the treatment backbone for many patients with brain metastasis; however, its efficacy in preventing disease progression and associated toxicity have questioned clinical impact of this approach emphasized need alternative treatments. Given limited therapeutic options available these poor understanding molecular mechanisms underlying resistance metastatic lesions to WBRT, we sought uncover actionable targets biomarkers that could help refine patient...
Glioblastoma (GBM) is a highly malignant brain tumor that affects men more often than women. In addition, the former shows poorer survival prognosis. To date, reason for this sex-specific aggressiveness remains unclear. Therefore, aim of study to investigate processes explain these sex differences.
Glioblastomas (GBM) are devastating tumors in which there has been little clinical improvement the last decades. New molecularly directed therapies under development. EGFR is one of most promising targets, as this receptor mutated and/or overexpressed nearly half GBMs. However, results obtained with first-generation tyrosine-kinase inhibitors have disappointing no clear predictive markers tumor response. Here, we tested antitumoral efficacy a second-generation inhibitor, dacomitinib...
<h3>BACKGROUND AND PURPOSE:</h3> Diffuse gliomas are classified as grades II–IV on the basis of histologic features, with prognosis determined mainly by clinical factors and grade supported molecular markers. Our aim was to evaluate, in patients diffuse gliomas, relationship relative CBV ADC values overall survival. In addition, we also propose a prognostic model based preoperative MR imaging findings that predicts survival independent histopathology. <h3>MATERIALS METHODS:</h3> We conducted...
Abstract The extraordinary plasticity of glioma cells allows them to contribute different cellular compartments in tumor vessels, reinforcing the vascular architecture. It was recently revealed that targeting glioma-derived pericytes, which represent a big percentage mural cell population aggressive tumors, increases permeability vessels and improves efficiency chemotherapy. However, molecular determinants this transdifferentiation process have not been elucidated. Here we show mutations...
Abstract Alterations in RNA-splicing are a molecular hallmark of several neurological diseases, including muscular dystrophies, where mutations genes involved RNA metabolism or characterized by alterations splicing have been described. Here, we present five patients from two unrelated families with limb-girdle dystrophy (LGMD) phenotype carrying biallelic variant SNUPN gene. Snurportin-1, the protein encoded SNUPN, plays an important role nuclear transport small ribonucleoproteins (snRNPs),...
Abstract Background and purpose Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was characterize p.Leu2286Val variant 17 Basque patients, accurately determine its correlation clinical features explore possible founder effect variant. Methods Families harbouring p.Leu2286 underwent detailed evaluation, including muscle magnetic resonance imaging, electromyography biopsy. Haplotypes were...
Abstract Chitinase 3-like protein 1 (CHI3L1) is emerging as a promising biomarker for assessing intracranial lesion burden and predicting prognosis in traumatic brain injury (TBI) patients. Following experimental TBI, Chi3l1 transcripts were detected reactive astrocytes located within the pericontusional cortex. However, cellular sources of CHI3L1 response to hemorrhagic contusions human remain unidentified. Hence, we examined comprehensive collection histologically defined acute subacute...
Limb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little known about calpain 3 (CAPN3) function muscle, but its loss results aberrant sarcomere formation. Human structure was analyzed this study, with observed integrin β1D isoform (ITGβ1D) mislocalization, a lack of talin 1 (TLN1) sarcolemma, and irregular expression Focal Adhesion Kinase (FAK) LGMDR1 muscles suggesting activation an altered extracellular...
Limb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little known about CAPN3’s function muscle, but its loss results aberrant sarcomere formation. Human structure was analyzed this study, with observations including integrin β1D isoform (ITGβ1D) mislocalization, a lack of Talin-1 (TLN1) sarcolemma and irregular expression focal adhesion kinase (FAK) LGMDR1 muscles, suggesting activation an altered sarcolemma,...
Abstract The lack of response glioblastoma (GBM) to immunotherapy is closely related the limited number T cells in tumor microenvironment (TME). However, it still not known why GBM characterized by an immune-cold TME with reduced CD8+ T-cell infiltration when there substantial myeloid cell and a alteration blood–brain barrier. aim this study was identify regulators low GBM. Using transcriptomic screening, we found that TRIB2 regulator characteristic Further analysis cohort 114 brain tumors...
Glioblastoma (GBM) is the most common malignant adult primary brain tumor. Despite its high lethality, a small proportion of patients have relatively long overall survival (OS). Here we report study series 74 GBM samples from 29 long-term survivors ([LTS] OS ≥36 months) and 45 non-LTS. Using next-generation sequencing, analyzed genetic alterations in genes frequently altered gliomas. Approximately 20% LTS had mutation IDH1 or IDH2 (IDH) genes, denoting relevance this molecular prognostic...
Abstract BACKGROUND Despite some evidence for the adoption of endoscopic transnasal trans-sphenoidal surgery (ETSS) pituitary adenomas, advantages this technique over traditional approach have not been robustly confirmed. OBJECTIVE To compare ETSS with microscopic sublabial trans-septal (MTSS) adenomas. METHODS We retrospectively reviewed 2 cohorts and MTSS performed at our institution from 1995 to 2017. Patient characteristics, surgical data, outcomes were recorded prospectively. a...
Giant cell glioblastoma (gcGBM) is a rare morphological variant of IDH-wildtype (IDHwt) GBM that occurs in young adults and have slightly better prognosis than "classic" IDHwt GBM.We studied 36 GBMs, 14 with histopathological diagnosis gcGBM 22 giant component. We analyzed the genetic profile most frequently mutated genes gliomas assessed tumor mutation load (TML) by gene-targeted next-generation sequencing. validated our findings using The Cancer Genome Atlas (TCGA) data.p53 was altered...