RESUMO Mutações no gene GBA têm sido reportadas em pacientes com doença de Parkinson (DP) em diferentes países, incluindo o Brasil. Com o objetivo de confirmar esse padrão em uma amostra de pacientes com DP provenientes do Norte brasileiro, foi conduzindo esse estudo caso-controle investigando a frequência das duas mutações mais comuns do gene GBA (c.1226A>G; p.N370S e c.1448T>C; p.L444P) em um grupo de 81 pacientes com DP e 81 controles, usando PCR-RFLP e confirmado pelo sequenciamento direto de produtos de PCR. No grupo experimental, três pacientes (3,7%) foram heterozigotos para a mutação c.1226A>G; p.N370S e três (3,7%), para a mutação c.1448T>C; p.L444P Nenhuma das duas mutações foi detectada no grupo controle (p =0,0284). Pacientes com a mutação c.1448T>C; p.L444P demonstraram uma tendência a apresentar os sintomas mais precocemente, porém um número amostrai maior é necessário para confirmar essa observação. Nossos resultados sugerem uma associação entre essas duas mutações no gene GBA e o desenvolvimento de DP na população de pacientes do norte Brasileiro.

ABSTRACT Mutations of the GBA gene have been reported in patients with Parkinson's disease (PD) from a number of different countries, including Brazil. In order to confirm this pattern in a sample of PD patients from northern Brazil, we conducted a case-control study of the occurrence of the two most common mutations of the GBA gene (c.1226A>G; p.N370S and c.1448T>C; p.L444P) in a group of 81 PD patients and 81 control individuals, using PCR-RFLP, confirmed by the direct sequencing of the PCR products. In the patient group, three patients (3.7%) were heterozygous for the GBA c.1226A>G; p.N370S mutation, and three (3.7%) for GBA c.1448T>C; p.L444P Neither mutation was detected in the control group (p =0.0284). Patients with the c.1448T>C; p.L444P mutation showed a tendency to have an earlier disease onset, but a larger sample number is required to confirm this observation. Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil.

RESUMO Objetivo: avaliar os efeitos do treinamento resistido nos sintomas de ansiedade e na qualidade de vida em pacientes com doença de Parkinson. Métodos: Trinta e cinco pacientes idosos foram divididos randomicamente em dois grupos: 17 indivíduos no grupo controle e 18 no grupo de intervenção. Todos os sujeitos mantiveram o tratamento farmacológico padrão para a doença de Parkinson, mas o grupo de intervenção participou de um programa de treinamento resistido de 24 semanas. Os sintomas de ansiedade foram avaliados através do inventário de ansiedade de Beck e a qualidade de vida pelo questionário da doença de Parkinson-39. Resultados: Houve redução significativa no nível de ansiedade e melhora da qualidade de vida após 24 semanas de treinamento resistido. Conclusão: Os resultados do presente estudo indicam que o treinamento resistido é uma intervenção efetiva na redução dos sintomas de ansiedade e melhora a qualidade de vida em idosos com doença de Parkinson.

ABSTRACT Objective: To assess the effects of resistance training on the anxiety symptoms and quality of life in patients with Parkinson's disease. Methods: Thirty-five elderly patients were randomly divided into two groups: 17 patients in the control group and 18 in the intervention group. All patients maintained standard pharmacological treatment for Parkinson's disease, but the intervention group participated in a 24-week resistance training program. The anxiety symptoms were assessed through the Beck's Anxiety Inventory, and quality of life by the Parkinson's Disease Questionnaire–39. Results: There was a significant reduction in anxiety level and increase in quality of life after 24 weeks of resistance training. Conclusion: The results of the present study indicate that resistance training is an effective intervention in the reduction of anxiety symptoms and improves the quality of life in elderly people with Parkinson's disease.

RESUMO A osteoporose é considerada uma doença osteometabólica comum e sua prevalência está aumentando mundialmente. Nesse contexto, a atividade física tem sido usada como ferramenta não farmacológica para prevenir e auxiliar no tratamento dessa doença. O objetivo desta revisão sistemática foi avaliar os efeitos da prática do ciclismo e da natação na densidade mineral óssea (DMO). Esta pesquisa foi feita de acordo com as recomendações do Preferred Reporting Items for Systematic Reviews and Meta-Analyses. Os estudos foram consultados entre 2004 e 2014, por meio de importantes bases de dados eletrônicas: PubMed®, SciELO® e Lilacs®. Dez pesquisas avaliaram os efeitos do ciclismo sobre a DMO, os resultados demonstraram que nove estudos associaram a prática do ciclismo profissional com baixos níveis de DMO. Outros 18 estudos relataram que a natação não tem efeitos positivos sobre a massa óssea. Conclui-se que o ciclismo e a natação não causam efeitos positivos na DMO. Assim, não são os exercícios mais indicados para a prevenção e o tratamento da osteoporose.

ABSTRACT Osteoporosis is considered a common metabolic bone disease and its prevalence is increasing worldwide. In this context, physical activity has been used as a non-pharmacological tool for prevention and auxiliary treatment of this disease. The aim of this systematic review was to evaluate the effects of cycling and swimming practice on bone mineral density (BMD). This research was conducted in accordance with the recommendations outlined by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. The studies were consulted in the period from 2004 to 2014, through major electronic databases: PubMed®, SciELO® and LILACS®. Ten studies evaluated the effects of cycling on BMD, and the results showed that nine studies have linked the practice of professional cycling with low levels of BMD. Another 18 studies have reported that swimming has no positive effects on bone mass. We conclude that cycling and swimming do not cause positive effects on BMD; thus, these are not the most suitable exercises for prevention and treatment of osteoporosis.

Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary excretion of GAG, and to improve some of the patients' clinical signs. We studied biochemical and molecular characteristics of nine MPS patients (two MPS I, four MPS II and three MPS VI) undergoing ERT in northern Brazil. The responsiveness of ERT was evaluated through urinary GAG excretion measurements. Patients were screened for eight common MPS mutations, using PCR, restriction enzyme tests and direct sequencing. Two MPS I patients had the previously reported mutation p.P533R. In the MPS II patients, mutation analysis identified the mutation p.R468W, and in the MPS VI patients, polymorphisms p.V358M and p.V376M were also found. After 48 weeks of ERT, biochemical analysis showed a significantly decreased total urinary GAG excretion in patients with MPS I (p < 0.01) and MPS VI (p < 0.01). Our findings demonstrate the effect of ERT on urinary GAG excretion and suggest the adoption of a screening strategy for genotyping MPS patients living far from the main reference centers.