A5075587403- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Inflammatory Myopathies and Dermatomyositis
- Parkinson's Disease and Spinal Disorders
- Metabolism and Genetic Disorders
- Nuclear Structure and Function
- Glycogen Storage Diseases and Myoclonus
- Neurological and metabolic disorders
- Ion channel regulation and function
- Advanced MRI Techniques and Applications
- Autoimmune Neurological Disorders and Treatments
- Fetal and Pediatric Neurological Disorders
- Medical research and treatments
- Prosthetics and Rehabilitation Robotics
- Laser Applications in Dentistry and Medicine
- Neurological diseases and metabolism
- Craniofacial Disorders and Treatments
- Bone and Dental Protein Studies
- Medical and Biological Ozone Research
- Coordination Chemistry and Organometallics
- Congenital Heart Disease Studies
- Cancer Treatment and Pharmacology
Universidade de São Paulo
2007-2022
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
1996-2019
Universidade Brasil
2002-2019
Hospital de Clínicas
2000
Hospital de Clínicas de Porto Alegre
1999-2000
National Center of Neurology and Psychiatry
1994
National Institute of Genetics
1994
OBJECTIVE: To compare muscle strength (MS) and motor function in patients with Duchenne muscular dystrophy (DMD) receiving steroids for different times against the natural evolution of DMD described by Scott et al. METHOD: 90 (aged 5- 12 years), one to seven years, were evaluated Medical Research Council Scale (MRC) Hammersmith ability score. The relation between MS abilities measurement from our data Scott's ones ascertained statistically. RESULTS: patient's age scores revealed decrease...
Sporadic inclusion body myositis (sIBM) is considered the most common acquired myopathy aged over 50 years. The disease characterized by a particular process of muscle degeneration abnormal deposit protein aggregates in association with inflammation. aim this study was to present clinical and histopathological findings, including immunostaining for LC3B, p62, α -synuclein, TDP-43, 18 patients sIBM. predominated males (61%) European descendants, onset manifestations around 59 years old....
OBJECTIVE: An assessment protocol was applied to quantify and describe muscular strength motor abilities of 32 patients with Duchenne dystrophy (DMD), aged between 5 12 years on steroid therapy. METHOD: Assessments were made monthly for the first six months intervals two thereafter until 14-month end point. The tests employed included: Medical Research Council (MRC) scale; Hammersmith ability score; maximum weight lift; timed rise from floor nine-meter walk. RESULTS: results showed that loss...
Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal weakness variable age onset, speed progression, intensity symptoms. Sarcoglycanopathies, which are a subgroup the limb-girdle dystrophies, caused by mutations in sarcoglycan genes. Mutations these genes cause secondary deficiencies other proteins, due to instability dystrophin-glycoprotein complex. Therefore, determining etiology given...
PURPOSE: To prospectively use hydrogen 1 (1H) magnetic resonance (MR) spectroscopy and apparent diffusion coefficient (ADC) maps to try explain the discrepancy between extensive white matter (WM) abnormalities observed at MR imaging relatively mild neurocognitive decline in patients with merosin-deficient congenital muscular dystrophy (CMD). MATERIALS AND METHODS: The hospital ethics committee approved this study, informed consent was obtained. Nine (five boys, four girls; age range, 3–9...
Centronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in biopsies. The clinically heterogeneous, ranging from severe neonatal hypotonic phenotypes to adult-onset mild weakness, and can have multiple modes of inheritance association various genes, including MTM1, DNM2, BIN1 RYR1. Here we analyzed 18 sporadic patients clinical histological diagnosis CNM sequenced the DNM2 gene, which codes for dynamin 2 protein. We found...
Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed. OBJECTIVE: To evaluate clinical picture CMD patients phenotype who presented decreased absent immunoreactivity on biopsy. RESULTS: Among 60 two had no expression V their was essentially different: first (3 years follow-up) has motor...
The congenital muscular dystrophies (CMD) are heterogeneous diseases with early and dystrophic pattern on muscle biopsy. Many different subtypes have been genetically identified most phenotypes not yet belong to the merosin-positive (MP) CMD subgroup. OBJECTIVE: To analyze immunohistochemical expression of main proteins dystrophin-glycoproteins associated complex in biopsy patients phenotypes, for investigating a possible correlation clinical histopathological data. METHOD: Fifty-nine had...
We present a boy of eight years age with symptoms Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative succinate dehydrogenase-positive fibers. magnetic resonance...
We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae, lumbar lordosis mild thoracic scoliosis who present congenital hypotonia, slightly delayed motor development, diffuse joint hyperextensibility proximal weakness. The muscle biopsy revealed minimal...
We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders our Institution from 1996 to 1999 objective of emphasizing characteristic dysmorphic phenotype SJS and its different clinical forms. Two cases presented SJS-type 1A, two had 1B one manifested 2. boys 3 13 years age generalized stiffness facial as well osteoarticular changes birth. Other 11 7 less marked birth myotonia, a limiting factor, during second year age. A girl...
A heterogeneous group of patients with congenital muscular dystrophy associated clinical or radiologic central nervous system involvement other than the severe classic form merosin deficiency, muscle-eye-brain disease, and Walker-Warburg syndrome is described. probable hereditary familial occurrence could be suggested in all patients. One merosin-positive patient presented motor incapacity cerebral atrophy without any manifestation involvement. second patient, also merosin-positive, had...
Few forms of severe genetic myopathies can successfully be treated, although multiple acyl-CoA dehydrogenase deficiency (MADD) is highly responsive to riboflavin supplementation.c Muscle MRI and muscle biopsy play important roles in patients with exercise intolerance dyspnea when metabolic myopathy suspected.Oy-sters c EMG serum creatine kinase (CK) levels may normal myopathies.Muscle the only abnormal ancillary examination.c MADD must considered cases rapidly progressive respiratory...
Este artigo analisa os resultados da pesquisa cartográfica realizada no Mestrado em Educação. O método é a cartografia e tem como território uma escola de Educação Jovens Adultos (EJA) periferia cidade Teresina-PI. Objetiva mapear saberes, problemas formas resistência das mulheres negras EJA, partir suas narrativas, usando técnica produção dados “Bonecas que falam”. Com base teórica Gonzalez (2020), Arroyo (2017) Collins Bilge (2021) Candau (2013), o estudo revelou as participantes são...
OBJETIVO: Analisar o teste de esforço cardiopulmonar (TECP) no diagnóstico miopatias. MÉTODOS: 27 pacientes com miopatia realizaram TECP (protocolo bicicleta em rampa, máximo, interrompido por sintoma). RESULTADOS: Pacientes distróficos e mitocondriopatias mostraram diferenças significativas relação aos controles para as variáveis potência do trabalho desenvolvido (watt) pico consumo oxigênio (VO2 máx). diminuição significativa limiar anaeróbio controles, além elevação dos valores quociente...
The COVID-19 pandemic has brought substantial challenges for current practices in treating hereditary neuromuscular disorders (hNMDs). However, this infection not been the only concern these patients. Social distancing compromised multidisciplinary assistance and physical activity, about several mental health issues. We presented a follow-up on 363 patients with hNMDs at Brazilian tertiary center during peak of pandemic.We aimed to show frequency severity SARS-CoV-2 among hNMD demonstrate...
Miotonia é o fenômeno da diminuição velocidade de relaxamento muscular após contração, estímulo mecânico ou elétrico. As miotonias congênitas são afecções hereditárias e não apresentam distrofia muscular. Atualmente, a tendência agrupá-las como doenças canais iônicos, juntamente com as paralisias periódicas. Foram acompanhados sete pacientes, seis do sexo masculino um feminino, idade entre 16 48 anos (média 27 anos) início dos sintomas 1 10 S anos), que apresentavam miotônico desencadeado...