Spinal Muscular Atrophy
Mostrando 1-12 de 128 artigos, teses e dissertações.
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1. Cognitive performance of children with spinal muscular atrophy: A systematic review
RESUMO A atrofia muscular espinhal (SMA) é genética e progressiva, causada por grandes deleções bi-alélicas no gene SMN1, ou pela associação de uma grande deleção e uma variante nula. Objetivo: Avaliar as evidências sobre o desempenho cognitivo na atrofia muscular espinhal (AME). Métodos: Pesquisas nas bases de dados PUBMED/ Medline, Web of Know
Dement. neuropsychol.. Publicado em: 09/12/2019
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2. A incorporação do nusinersena no Sistema Único de Saúde: uma reflexão crítica sobre a institucionalização da avaliação de tecnologias em saúde no Brasil
Resumo: Em abril de 2019, foi assinada a portaria de incorporação do medicamento nusinersena no Sistema Único de Saúde (SUS). É o medicamento mais caro já incorporado ao SUS, para uso no tratamento de atrofia muscular espinhal 5q tipo I. A incorporação é referida como um marco na tomada de decisão sobre novas tecnologias no SUS, a ser viabilizada p
Cad. Saúde Pública. Publicado em: 29/08/2019
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3. Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile
ABSTRACT Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are ess
Arq. Neuro-Psiquiatr.. Publicado em: 29/07/2019
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4. Histone deacetylase inhibitors as potential treatment for spinal muscular atrophy
Histone acetylation plays an important role in regulation of transcription in eukaryotic cells by promoting a more relaxed chromatin structure necessary for transcriptional activation. Histone deacetylases (HDACs) remove acetyl groups and suppress gene expression. HDAC inhibitors (HDACIs) are a group of small molecules that promote gene transcription by chro
Genet. Mol. Biol.. Publicado em: 2013
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5. Avaliação do pico de fluxo de tosse e capacidade vital forçada em pacientes com distrofia muscular ou amiotrofia espinhal submetidos a treinamento de empilhamento de ar / Evaluation of peak cough flow and forced vital capacity in patients with muscular dystrophy or spinal muscular atrophy submitted to air stacking training
Introdução: As complicações respiratórias, somadas a baixos volumes pulmonares e tosse ineficiente, decorrentes da fraqueza da musculatura respiratória nas doenças neuromusculares (DNM), são as principais causas de morbidade e mortalidade. Objetivo: Verificar os efeitos do treinamento de empilhamento de ar na função respiratória de pacientes com D
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 01/10/2012
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6. Molecular Analysis of Spinal Muscular Atrophy: a genotyping protocol based on TaqMan® real-time PCR
Spinal muscular atrophy (SMA) is an autosomal recessive inherited disorder caused by alterations in the survival motor neuron I (SMN1) gene. SMA patients are classified as type I-IV based on severity of symptoms and age of onset. About 95% of SMA cases are caused by the homozygous absence of SMN1 due to gene deletion or conversion into SMN2. PCR-based method
Genet. Mol. Biol.. Publicado em: 2012
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7. Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease)
OBJECTIVE: To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedy's disease. METHODS: Ten patients (from 7 families) with a genetic diagnosis of Kennedy's disease were screened for the presence of tremor using a standardized clinical protocol and followed up at a neurology outpatient clinic. All index patients were genoty
Clinics. Publicado em: 2011
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8. Evaluation of the muscle strength and motor ability in children with spinal muscle atrophy type II and III treated with valproic acid / Avaliação da força muscular e da habilidade motora das crianças com amiotrofia espinhal progressiva do tipo II e III medicadas com ácido valpróico
Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder that affects the spinal motoneurons, resulting in hypotonia and muscle weakness. The knowledge of the molecular mechanism of SMA has originated new researches including clinical trials with pharmacological agents that increase SMN2 protein level. Many drugs with this action are being tested wit
Publicado em: 2009
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9. Diagnóstico Molecular Diferencial das Principais Doenças Neuromusculares Degenerativas em Crianças da População do Rio de Janeiro / Molecular Differential Diagnosis of Main Neuromuscular Degenerative Disease in Children Population of Rio de Janeiro
Dentre o grande número de doenças de origem genética conhecidas e que afetam os seres humanos, existem algumas que são degenerativas e que acometem tecidos importantes. Neste trabalho foram estudadas as doenças neuromusculares mais freqüentes na população mundial: Distrofia Muscular de Duchenne (DMD) e Becker (DMB) e Atrofia Muscular Espinhal (AME).
Publicado em: 2009
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10. The paralysé (par) mouse neurological mutation maps to a 9 Mbp (4 cM) interval of mouse chromosome 18
The Paralysé mutation is a spontaneous neuromuscular mutation, first observed in 1980 at the Pasteur Institute, which is transmitted by the autosomal recessive par allele. Affected homozygote par/par mice rarely survive beyond 16 days of age and at the end of their life they are emaciated and completely paralyzed. Several concordant histological and physiol
Genetics and Molecular Biology. Publicado em: 2005
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11. Hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3
The spinal muscular atrophies (SMA) or hereditary motor neuronopathies result from the continuous degeneration and death of spinal cord lower motor neurons, leading to progressive muscular weakness and atrophy. We describe a large Brazilian family exhibiting an extremely rare, late-onset, dominant, proximal, and progressive SMA accompanied by very unusual ma
Brazilian Journal of Medical and Biological Research. Publicado em: 2004-11
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12. Electromyographic Studies in Parents of Children with Spinal Muscular Atrophy
Electromyographic studies have been carried out on the quadriceps and deltoid muscles of a number of healthy parents of children with infantile spinal muscular atrophy (types I and II) and the results compared with those obtained in healthy controls of the same sex. The results indicated an increase in mean amplitude of action potentials in quadriceps and de