- Neurological diseases and metabolism
- Multiple Sclerosis Research Studies
- Vascular Malformations Diagnosis and Treatment
- Intracranial Aneurysms: Treatment and Complications
- Central Venous Catheters and Hemodialysis
- Spinal Hematomas and Complications
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Polyomavirus and related diseases
- Prion Diseases and Protein Misfolding
- SARS-CoV-2 and COVID-19 Research
- Mitochondrial Function and Pathology
- RNA regulation and disease
Hospital Clínico San Carlos
2017-2018
Instituto de Investigación Sanitaria del Hospital Clínico San Carlos
2018
<h3>Objective</h3> To understand COVID-19 characteristics in people with multiple sclerosis (MS) and identify high-risk individuals due to their immunocompromised state resulting from the use of disease-modifying treatments. <h3>Methods</h3> Retrospective multicenter registry patients MS suspected or confirmed diagnosis available disease course (mild = ambulatory; severe hospitalization; critical intensive care unit/death). Cases were analyzed for associations between identifying risk...
Las fístulas arteriovenosas espinales (FAVE) son excepcionales y representan el 3% de las lesiones espinales. Asocian gran morbilidad sin tratamiento precoz, pero diagnóstico constituye un reto. Nuestro objetivo es evaluar sus características clínicas revisar la evolución tras tratamiento. ¿Puede ser tarde para tratar? Presentamos una serie retrospectiva 10 casos diagnosticados tratados en 3 años hospital terciario. Se observó predominio masculino (80%). La edad media fue 65,4 años. El...
Spinal arteriovenous fistulas (SAVFs), a rare type of vascular malformation, account for 3% all spinal cord lesions. Without early treatment, the associated morbidity is high; furthermore, SAVFs pose major diagnostic challenge. Our purpose was to evaluate clinical characteristics and review their progress after treatment determine whether they may be too late in some cases. We present retrospective series 10 patients diagnosed with treated at tertiary hospital during 3-year period. In our...
Dominant optic atrophy (DOA) type 1 is an autosomal dominant disorder caused by mutations in the OPA1 gene, involved mitochondrial integrity, resulting damage to cells with high energy demands, like retinal ganglion cells.1, 2 Patients are diagnosed during their childhood suffering a progressive, symmetrical and irreversible loss of vision, usually moderate, caecocentral scotoma, specific dyschromatopsia blue-yellow axis discs atrophy, typically its temporal side. However, there important...
An 18-year-old woman with premature ovarian failure presented focal motor seizures secondary generalization and headache 2 weeks after a viral infection. She also had recent psychological stress background. Examination only revealed generalized hyperreflexia. Neuroimaging studies showed bilateral confluent leukoencephalopathy periventricular cystic degeneration (figure). Genetic testing homozygosity for p.Arg113His missense mutation in the EIF2B5 gene, confirming diagnosis of VWM. Phenotypic...