A5052710945- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Craniofacial Disorders and Treatments
- Cytomegalovirus and herpesvirus research
- Glioma Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Cerebral Venous Sinus Thrombosis
- Functional Brain Connectivity Studies
- Fetal and Pediatric Neurological Disorders
- HIV Research and Treatment
- Cleft Lip and Palate Research
- Acute Ischemic Stroke Management
- HIV/AIDS Research and Interventions
- HIV-related health complications and treatments
- Genetic Neurodegenerative Diseases
- Melanoma and MAPK Pathways
- Moyamoya disease diagnosis and treatment
- Intracranial Aneurysms: Treatment and Complications
- Infectious Encephalopathies and Encephalitis
- Neonatal Health and Biochemistry
- Head and Neck Surgical Oncology
- Ophthalmology and Eye Disorders
- Lung Cancer Treatments and Mutations
- Neurological Complications and Syndromes
- Venous Thromboembolism Diagnosis and Management
Hospital Universitario 12 De Octubre
2016-2025
Universidad Nacional Autónoma de México
2024
Children's of Alabama
2024
University of Alabama at Birmingham
2024
Research Institute Hospital 12 de Octubre
2020-2024
Chapman University
2024
Weatherford College
2021
Hospital Universitario Rey Juan Carlos
2020
Universidad Complutense de Madrid
2020
Biomedical Research Networking Center on Neurodegenerative Diseases
2020
Background: Cytomegalovirus (CMV) is the leading cause of congenital infection worldwide. Up to 15%–20% infected newborns will develop long-term sequelae such as hearing loss and neurologic abnormalities. The aim this study was investigate prevalence CMV (cCMV) associated clinical abnormalities in Spain. Methods: A prospective screening for cCMV by viral load saliva performed. Saliva samples were obtained within first 72 hours life a maternity ward Madrid (Spain), during 1-year period. All...
Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion that presents with profound cerebral folate deficiency and other features. Preliminary data support the notion folinic acid therapy might be useful in treatment of KSS patients. Our aim was to assess clinical neuroimaging outcomes patients receiving therapy. Patients: We recruited eight diagnoses KSS. Four cases were treated at 12 de Octubre Hospital, two Sant Joan Déu Hospital. Two refused participate protocol. Methods: Clinical,...
BACKGROUND AND OBJECTIVES: In patients with syndromic craniosynostosis, early synostosis of the cranial base synchondroses may occur, potentially increasing frequency abnormalities in base. We aim to estimate prevalence platybasia, basilar invagination, odontoid retroflexion, Chiari malformation type I (CMI), and cervical syringomyelia craniosynostosis. Furthermore, we assess changes between initial preoperative study latest available for each patient. METHODS: This is a retrospective...
Abstract Protein kinase C (PKC) was initially identified as a serine/threonine protein dependent on calcium and phospholipids shown to be involved in intracellular signaling pathways. PKC isoforms have been classified into four groups: Ca 2+ ‐dependent conventional α, βI, βII, γ; ‐independent, novel δ, ϵ, η, θ; atypical PKCζ, λ, ι which are not activated by or diacylglycerol, the recently discovered PKCμ. We reported that activation of ζ isoform is an important step interleukin‐2...
Blázquez-Gamero, Daniel PhD, MD; Soriano-Ramos, María Martínez de Aragón, Ana Baquero-Artigao, Fernando Frick, Marie Antoinette Noguera-Julian, Antoni Alonso-Ojembarrena, Almudena Moliner Calderón, Elisenda Rives Ferreiro, Teresa Filgueira Posse, Garrote Llanos, Elisa Sota Busselo, Itziar Santos, Mar Tagarro García, Alfredo Bustamante, Jorge Soler-Palacín, Pere Fortuny Guasch, Claudia Rojo Conejo, Pablo and the Spanish Registry of Infants with Congenital Cytomegalovirus Infection (REDICCMV)...
Abstract The in‐vivo digestibility of soluble globulin proteins purified from faba bean ( Vicia ), lupin Lupinus angustifolius ) and soya Glycine max seed meals was studied in two acute (1 h) experiments with growing rats. Commercial insoluble denatured lactalbumin (Sigma) used as control. In experiment 1, five groups (four rats each) overnight fasted were intubated the different (300 mg) suspended distilled water (1.5 ml). Controls only water. 2, added to a basal diet (1.0 g) which...
We report the case of a 9-year-old girl with early-onset developmental delay, chronic ataxia and prolonged hemiplegic migraine episodes bringing about progressive deterioration. Two days into one episode, diffusion-weighted magnetic resonance imaging disclosed unilateral striatal abnormal signal consistent cytotoxic edema, which evolved atrophy on follow-up scans. Mutational screen CACNA1A gene identified de novo p.Tyr1387Cys mutation.
Abstract We report the case of a Caucasian Spanish origin female who showed severe psychomotor developmental delay, hypotonia, strabismus, epilepsy, short stature, and poor verbal language development. Brain magnetic resonance imaging scans thickened corpus callosum, cortical malformations, dilated abnormal configuration lateral ventricles without hydrocephalus. Whole‐exome sequence uncovered de novo variant in microtubule associated serine/threonine kinase 1 gene ( MAST1 ;...
Brain atrophy has been observed in perinatally HIV-infected patients (PHIV) despite initiation on combined antiretroviral treatment (cART), but neuroimaging studies are limited. We aimed to evaluate cortical thickness (CT) and subcortical gray matter (GM) volumes of PHIV youths with stable immunovirological situation a normal daily performance.A prospective cross-sectional study was conducted. A total 25 cART HIV-negative (HIV-) controls matched by age, sex, level education, socioeconomic...