A5009518785- Peripheral Neuropathies and Disorders
- Hereditary Neurological Disorders
- Glioma Diagnosis and Treatment
- Autoimmune Neurological Disorders and Treatments
- Nerve injury and regeneration
- Muscle Physiology and Disorders
- Cholesterol and Lipid Metabolism
- CNS Lymphoma Diagnosis and Treatment
- Metabolism and Genetic Disorders
- Epigenetics and DNA Methylation
- Brain Metastases and Treatment
- Histone Deacetylase Inhibitors Research
- Steroid Chemistry and Biochemistry
- Meningioma and schwannoma management
- Glycogen Storage Diseases and Myoclonus
- Lysosomal Storage Disorders Research
- Receptor Mechanisms and Signaling
- Neurogenetic and Muscular Disorders Research
- Myasthenia Gravis and Thymoma
- Lymphoma Diagnosis and Treatment
- Lipoproteins and Cardiovascular Health
- Ophthalmology and Eye Disorders
- Long-Term Effects of COVID-19
- Migraine and Headache Studies
- Neurological and metabolic disorders
Hospital Universitario Virgen del Rocío
2004-2023
Instituto de Biomedicina de Sevilla
2023
Universidad de Sevilla
2023
Canisius-Wilhelmina Ziekenhuis
2023
University of Milano-Bicocca
2022
Hospital Universitario Reina Sofía
2020-2021
Hospital Universitario Virgen Macarena
2016-2019
Complejo Hospitalario de Navarra
2013
Institut Català d'Oncologia
2013
Hospital Clínico San Carlos
2013
Abstract Purpose: The DNA repair enzyme O6-methylguanine methyltransferase (MGMT) inhibits the killing of tumor cells by alkylating agents, and its loss in cancer is associated with hypermethylation MGMT CpG island. Thus, methylation has been correlated clinical response to 1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU) primary gliomas. Here, we investigate whether presence gliomas also a good predictor another emergent agent, temozolomide. Experimental Design: Using methylation-specific PCR...
To assess management patterns and outcome in patients with glioblastoma multiforme (GBM) treated during 2008–2010 Spain. Retrospective analysis of clinical, therapeutic, survival data collected through filled questionnaires from histologically confirmed GBM diagnosed 19 Spanish hospitals. We identified 834 (23% aged >70 years). Surgical resection was achieved 66% patients, although the extent surgery by postoperative MRI only 41%. There were major complications 14% age independent predictor...
To study baseline serum neurofilament light chain (sNfL) levels as a prognostic biomarker in Guillain-Barré syndrome (GBS).
Abstract Late onset Pompe disease (LOPD) is a slow, progressive disorder characterized by skeletal and respiratory muscle weakness. Enzyme replacement therapy (ERT) slows down the progression of symptoms. Reliable biomarkers are needed to follow up ERT-treated asymptomatic LOPD patients in clinical practice. In this study, 32 (22 symptomatic 10 asymptomatic) underwent MRI using 3-point Dixon were evaluated at time with several motor function tests patient-reported outcome measures, again...
Abstract Background Guillain–Barré syndrome (GBS) is an acute inflammatory neuropathy with a heterogeneous presentation. Although some evidences support the role of autoantibodies in its pathogenesis, target antigens remain unknown substantial proportion GBS patients. The objective this study to screen for targeting peripheral nerve components syndrome. Methods Autoantibody screening was performed serum samples from all patients included International Outcome by 11 different Spanish centres....
Isolated case reports suggest that breast tumors from patients with paraneoplastic cerebellar degeneration (PCD) and Yo antibodies overexpress human epidermal growth factor receptor 2 (HER2). HER2 overexpression is present in 15%-25% of cancers associated poor prognosis. We retrospectively analyzed the status 27 anti-Yo-associated PCD to evaluate whether this group higher than expected. In addition, we 19 neurological syndromes Ri see was specifically related PCD. also assessed cdr2...
We describe a patient who presented with excessive daytime sleepiness (EDS) and was eventually diagnosed anti-Ma2 encephalitis. Neurological examination disclosed somnolence, left palpebral ptosis, vertical gaze paresis. A brain MRI showed high signal intensity in the hypothalamus each hippocampus. Ma2 antibodies were found patient's serum, fiberbronchoscopy lung carcinoma. After three months of steroid treatment, results neurological exam became normal. conclude that encephalitis may...
The extracellular matrix (ECM) has an important role in the development and maintenance of skeletal muscle, several muscle diseases are associated with dysfunction ECM elements. MAMDC2 is a putative protein its cell proliferation been investigated certain cancer types. However, participation physiology not previously studied. We describe 17 individuals autosomal dominant muscular dystrophy belonging to two unrelated families which different heterozygous truncating variants last exon...
Abstract Adult onset Pompe disease is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated with enzymatic replacement therapy human recombinant alfa glucosidase. Motor functional tests spirometry commonly used to follow up. However, serological biomarker that correlates the progression of could improve follow-up. We studied serum concentrations TGFβ, PDGF-BB, PDGF-AA CTGF growth factors in 37 adult 45 controls....
Standard treatment for brain ependymomas includes surgery followed by focal radiotherapy when resection is incomplete. The role of chemotherapy recurrent unresectable anaplastic previously treated with unsettled.1 We report an adult patient a and multifocal ependymoma who responded to the association tamoxifen isotretinoin. A 39-year-old man developed severe headaches in June 1997. A CT MRI disclosed presence mild hydrocephaly right bulboprotuberantial heterogeneous tumor which enhanced...
We characterized in detail the life cycle of human immunodeficiency virus type 1 (HIV-1) glioma H4/CD4 cells which stably express transfected CD4 DNA (B. Volsky, K. Sakai, M. Reddy, and D. J. Virology 186:303-308, 1992). Infection cloned with N1T strain cell-free HIV-1 (HIV-1/N1T) was rapid highly productive as measured by initial expression viral DNA, RNA, protein, but all products declined to low levels 14 days after infection. Chronically infected, virus-producing could be obtained cell...
ABSTRACT Objective To study baseline serum neurofilament light chain (sNfL) levels as a prognostic biomarker in Guillain-Barré syndrome (GBS). Methods We measured NfL using SiMoA (98 samples) and CSF (24 of GBS patients prospectively included the International Outcome Study (IGOS) Spain compared them with controls (HC). performed multivariable regression to analyze association between sNfL functional outcome at one year. Results had higher than HC (55.49pg/mL vs 9.13pg/mL, p<0,0001)...
We conducted the current review of paraneoplastic neurologic syndromes (PNSs) associated with gynecologic and breast carcinomas to describe their clinical immunologic characteristics relative frequency. retrospectively reviewed 92 patients whose serum was sent our laboratories detect onconeural antibodies who were diagnosed as having PNSs or tumors. defined "definitive" "possible" (atypical PNS, no antibodies, improvement after tumor treatment). Forty-nine had 43 cancer. Sixty-three (50...
The so-called neurological paraneoplastic syndromes (NPNS) are a group of diseases the central nervous system unknown etiology which seen almost exclusively in patients with cancer. We review main NPNS paying particular attention to those ophthalmological and otological features.Certain neuro-ophthalmological findings may constitute, at least partly, some syndromes. There alterations vision retinopathy optic neuritis origin. latter, unlike retinopathy, usually coexists involvement other...