Estudo comparativo da Corrente Russa e Farádica no desempenho motor Pós-fratura em camundongos / Comparative study of faradic current and russian current in post-fracture motor performance in mice

O presente estudo teve como objetivo analisar os efeitos das Correntes Russa e Farádica no desempenho motor pós-fratura em camundongos. Foi realizado um estudo experimental, utilizando 18 camundongos swiss albinos divididos em três grupos: grupo A que foi tratado com a Corrente Russa (freqüência de 2.500Hz modulada em 50 Hz); grupo B com Farádica (freqüência de 50 Hz) e o grupo de controle. A eletroestimulação dos grupos A e B iniciou-se 1º P.O de fratura de tíbia e fíbula. Após a terceira e sexta aplicação foram avaliados no rota rod no modo constante por dois tempos consecutivos de 90 segundos com intervalo de dois minutos. Os resultados demonstraram que após 3 aplicações das correntes não houve diferença significativa entre os grupos (p>0,05), contudo com 6 aplicações houve uma melhora significativa no tempo de permanência no rota rod dos animais submetidos à aplicação da Corrente Farádica em comparação com a Russa. Portanto, conclui-se que a Corrente farádica apresentou melhores resultados que a Corrente Russa no teste de desempenho motor.

High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients

Gaucher disease (GD), the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance. It is a paradigm for therapeutic intervention in medical genetics due to the existence of effective enzyme replacement therapy. We report here the analysis of GD in 262 unrelated Brazilian patients, carried out in order to establish the frequency of the most common mutations and to provide prognostic information based on genotype-phenotype correlations. Among 247 type 1 GD patients, mutation N370S was detected in 47 percent of all the alleles, but N370S/N370S homozygosity was found in only 10 percent of the patients, a much lower frequency than expected, suggesting that most individuals presenting this genotype may not receive medical attention. Recombinant alleles were detected at a high frequency: 44 percent of the chromosomes bearing mutation L444P had other mutations derived from the pseudogene sequence, present in 25 percent of patients. Three neuronopathic type 2 patients were homozygous for L444P, all presenting additional mutations (E326K or recombinant alleles) that probably lead to the more severe phenotypes. Six children, classified as type 1 GD patients, had a L444P/L444P genotype, showing that neuronopathic symptoms may only manifest later in life. This would indicate the need for a higher treatment dose during enzyme replacement therapy. Finally, mutation G377S was present in 4 homozygous type 1 patients and also in compound heterozygosity in 5 (42 percent) type 3 patients. These findings indicate that G377S cannot be unambiguously classified as mild and suggest an allele-dose effect for this mutation.