A5081997513- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Porphyrin Metabolism and Disorders
- Amyotrophic Lateral Sclerosis Research
- Neurological diseases and metabolism
- Metabolism and Genetic Disorders
- Heme Oxygenase-1 and Carbon Monoxide
- Allergic Rhinitis and Sensitization
- Genetic Neurodegenerative Diseases
- Folate and B Vitamins Research
- Hereditary Neurological Disorders
- Olfactory and Sensory Function Studies
- Spinal Hematomas and Complications
- Myasthenia Gravis and Thymoma
- Food Allergy and Anaphylaxis Research
- Inflammatory Myopathies and Dermatomyositis
- Parathyroid Disorders and Treatments
- Peripheral Neuropathies and Disorders
- Muscle Physiology and Disorders
- Neonatal Health and Biochemistry
- Coenzyme Q10 studies and effects
- Cardiomyopathy and Myosin Studies
- Biochemical Acid Research Studies
- Glycogen Storage Diseases and Myoclonus
- Vascular Malformations and Hemangiomas
Universidade Federal de São Paulo
2021-2025
Centro Paulista de Investigação Clinica
2024
Universidade Federal do Rio de Janeiro
2019-2022
Hospital Universitario Reina Sofía
2004-2020
University of Córdoba
2020
Instituto Maimónides de Investigación Biomédica de Córdoba
2020
Instituto de Salud Carlos III
2020
Hospital Clínic de Barcelona
2007
University of Modena and Reggio Emilia
2007
Centro de Investigación Biomédica en Red
2007
Porphyrias are a rare group of disease due to inherited defects heme synthesis with important systemic manifestations and great burden for patients families the exceptional course disabling chronic symptoms interposed by life-threatening acute attacks. Unfortunately, porphyrias usually underrecognized reflecting lack medical awareness as well few studies about natural history in large cohorts patients. The main aim this article is present consistent data Brazilian cohort.We conducted...
Preventing perioperative tissue oxygen debt contributes to a better postoperative recovery. Whether the beneficial effects of fluids and inotropes during optimization delivery (DO2) in high-risk surgical patients are due fluids, or combination two is not known. We aimed investigate effect fluid optimization, without use inotropes, on morbidity.
Acute hepatic porphyrias (AHP) represent a rare group of inherited metabolic disorders heme biosynthesis pathway. This study aims to determine the diagnostic and prognostic value serum neurofilament light chain (NfL) as potential biomarker for AHP. We conducted cross-sectional observational evaluate NfL levels in patients with They were divided different groups: normal health individuals; definitive diagnosis AHP during acute episodes; infrequent attacks; recurrent asymptomatic individuals...
A one-year-old male disclosed motor developmental delay, appendicular hypotonia, hyporeflexia, and weakness in the left lower limb. He started walking only at three years old. After this time, his symptoms were stable. At 31 old, patient slight asymmetric slowly progressive paraparesis myalgia. was referred with a suspicion of spinal muscular atrophy. Electromyography bilateral chronic lumbosacral denervation mild acute involving right Neuroimaging studies (brain MRI) genetic testing (MLPA...
Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper lower motor neuron involvement with symptoms classically occurring in adulthood an increasing recognition of juvenile presentations childhood disorders caused by genetic variants genes related Sclerosis. The main objective this study detail clinical, radiological, neurophysiological, findings Brazilian cohort patients recent described condition known as Spastic Tetraplegia Axial...
An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated painless strabismus, intellectual disability, urinary incontinence, bilateral visual loss, cognitive decline since early adolescence. A neurological examination disclosed spastic dysarthria, left eye divergent ophthalmoparesis, impaired smooth pursuit, severe paraparesis global brisk tendon reflexes, extensor plantar responses, ankle clonus reflex. Bilateral...
Cervical carotid stenosis is one of the main causes ischemic stroke. Carotid endarterectomy a safe procedure for treatment moderate and severe symptomatic asymptomatic stenosis. Regional anesthesia allows neurological evaluation patient during surgery. We reviewed results 104 patients operated on at our institution under regional period April 1996 May 2002. 64 were (61.54%) 40 (38.46%). All had over 70%. The followed from to 72 months (Mean: 29.5). Three cervical hematoma, that required...
Case Report. A 40-year-old Brazilian man presented with long-standing loss of balance, dystonia, and choreoathetosis, episodic paroxysmal worsening. Neuroimaging cerebrospinal fluid analysis were both unremarkable. Quantitative urine organic acid analysis, plasma acylcarnitine quantitative profile, amino acids by high performance liquid chromatography all within normal interval values. Multigene next-generation sequencing panel identified the heterozygous pathogenic variant c.1252C>T...