RESUMEN
WHAT IS KNOWN AND OBJECTIVE: Cannabidiol (CBD) is the main non-psychotropic component of the Cannabis sativa plant. REM sleep behaviour disorder (RBD) is a parasomnia characterized by the loss of muscle atonia during REM sleep associated with nightmares and active behaviour during dreaming. We have described the effects of CBD in RBD symptoms in patients with Parkinson's disease. CASES SUMMARY: Four patients treated with CBD had prompt and substantial reduction in the frequency of RBD-related events without side effects. WHAT IS NEW AND CONCLUSION: This case series indicates that CBD is able to control the symptoms of RBD.
Asunto(s)
Cannabidiol/uso terapéutico , Cannabis , Enfermedad de Parkinson , Fitoterapia , Trastorno de la Conducta del Sueño REM/tratamiento farmacológico , Anciano , Humanos , Masculino , Persona de Mediana EdadRESUMEN
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.
Asunto(s)
Estimulación Eléctrica , Modalidades de FisioterapiaRESUMEN
Gaucher disease is the most frequent lysosome storage disease and presents an autosomal recessive mode of inheritance. It is caused by mutations at the GBA gene leading to deficient activity of the glucocerebrosidase enzyme. This report describes 12 new mutations [c.38A>G (K-27R), c.220G>A (G35S), c.448G>A (E111K), IVS4+1G>A, c.746C>T (A210V), c.776A>G (Y220C), c.793delC (Q226_fs4X), c.1102C>T (R329C), c.1300C>T (R395C), c.1309G>A (V398I), c.1324-1326delATT (delI403) and c.1583T>C (I489T)] and 4 novel silent alterations [c.342C>T (F75), c.528C>T (D137), c.1011C>T (D298) and c.1092G>A (G325)] detected among 40 unrelated Brazilian type 1 Gaucher disease patients by a combination of RFLP, dHPLC and DNA sequencing procedures. The R329C mutation, previously described in a Parkinson's disease patient (A. Lwin, E. Orvisky, O. Goker-Alpan, M.E. LaMarca, E. Sidransky. Glucocerebrosidase mutations in subjects with Parkinsonism. Mol. Genet. Metab. 81 (2004) 70-73), is described here for the first time in a Gaucher disease patient. Several genotype-phenotype correlations could be established, contributing significantly to the panel of reported mutations and conferring predictive value to their detection.
Asunto(s)
Enfermedad de Gaucher/genética , Glucosilceramidasa/genética , Mutación Missense , Polimorfismo de Longitud del Fragmento de Restricción , Brasil , Análisis Mutacional de ADN , Femenino , Genotipo , Humanos , Masculino , Trastornos Parkinsonianos/genética , Reacción en Cadena de la PolimerasaRESUMEN
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% of all the alleles, but N370S/N370S homozygosity was found in only 10% 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% of the chromosomes bearing mutation L444P had other mutations derived from the pseudogene sequence, present in 25% 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%) type 3 patients. These findings indicate that G377S cannot be unambiguously classified as mild and suggest an allele-dose effect for this mutation.
Asunto(s)
Alelos , Enfermedad de Gaucher/genética , Mutación/genética , Análisis Mutacional de ADN , Enfermedad de Gaucher/diagnóstico , Pruebas Genéticas , Genotipo , Humanos , Mucosa Bucal , Fenotipo , Polimorfismo de Longitud del Fragmento de Restricción , Recombinación GenéticaRESUMEN
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.