Alpha-synuclein A53T mutation is not frequent on a sample of Brazilian Parkinson’s disease patients / Mutação A53T da alfa-sinucleína não é frequente em amostra de população brasileira com doença de Parkinson

Introduction The pathogenesis of Parkinson’s disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in the alpha-synuclein gene (SNCA).Objective To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD).Method A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping of SNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05.Results Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence of SNCA-A53T mutation was observed in all individuals.Conclusion SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population.

Introdução A patogênese da doença de Parkinson (DP) envolve fatores ambientais e suscetibilidade genética, destacando-se a mutação de alfa-sinucleína (SNCA.)Objetivos Analisar a variante genética SNCA-A53T em pacientes com DP familiar (DPF) e DP esporádica (DPE).Método Foram estudados 294 indivíduos, independente de sexo, com etnia miscigenada, sendo 154 com DP e 140 sem a doença (grupo controle). A genotipagem de SNCA-A53T foi realizada por PCR/RFLP. Nível de significância para p < 0,05.Resultados Entre os pacientes, 37(24%) tinham DPF e 117 (75,9%) DPE. A ausência da mutação SNCA-A53T em todos os indivíduos.Conclusão DPE é destacada entre os pacientes, no entanto a mutação SNCA-A53T ausente em todos os indivíduos, não diferenciando os grupo controle e pacientes, o que deve ser confirmado em população brasileira, considerando uma ampla casuística, além da ancestralidade.

Las comparaciones entre las ecuaciones de predicción de la tasa metabólica en reposo y la calorimetría indirecta en los adolescentes obesos / Comparisons between predictive equations of resting metabolic rate and indirect calorimetry in obese teenagers

Objective: To measure the accuracy of predictive equations of resting metabolic rate (RMR) in obese teenagers in relation to indirect calorimetry (IC). Methods: This study was conducted with 116 obese teenagers (60 males; 13.7±1.1 years). The RMR was calculated from Harris and Benedict, Schofield, WHO, Henry and Rees equations. The RMR was measured by the QUARK-RMR system. The comparison between predictive equations and IC was by the Student's t test. The reliability of data between predictive equations and IC was verified by the typical error of measurement (TEM) and the coefficient of variation (CV%). Results: Henry's equation was significantly different from IC (p<0.02). The CV% found for each equations compared to IC turned was low. However, when the TEM was measured it was considered high in absolute values which can cause errors when estimating the RMR. Therefore, it is important that specific predictive equations are developed for Brazilian obese teenagers.

Objetivo: Medir la precisión de las ecuaciones predictivas de la tasa metabólica de reposo (TMR) en los adolescentes obesos en relación con la calorimetría indirecta (CI). Métodos: El estudio se realizó en 116 adolescentes obesos (60 niños, 13,7 ± 1,1 años). La TMR se calculó a partir de las ecuaciones predictivas de Harris y Benedict, Schofield, OMS, Henry y Rees. La TMR se midió por el sistema de QUARK-TMR. La comparación entre las ecuaciones de predicción y IC se realizó mediante el test t de Student. La fiabilidad de los datos entre IC y ecuaciones de predicción fue verificada por el error típico de la medición (TEM) y el coeficiente de variación (CV%). Resultados: La ecuación de Henry fue significativamente diferente de IC (p <0,02). El CV% encontrado para cada ecuación en comparación con IC fue bajo; no obstante, cuando se midió el TEM, este fue considerado alto en valores absolutos que puede provocar errores al estimar la TMR. Por lo tanto, es importante que ecuaciones de predicción específicas sean desarrolladas para adolescentes obesos brasileños.

Prevalence of allergic rhinitis among adolescents from Distrito Federal, Brazil: comparison between ISAAC phases I and III

OBJECTIVES: To determine the prevalence of allergic rhinitis in a random group of schoolchildren aged 13 to 14 years in Brasilia, Brazil, to evaluate tendencies over 6 years and to compare prevalence rates among different socioeconomic groups.METHODS: Two cross-sectional studies were undertaken 6 years apart, using the ISAAC (phases I and III) written questionnaire. Thirty-nine schools were chosen at random from eight administrative regions in Brasilia, and were classified into three groups according to the socioeconomic conditions of the population.RESULTS: A total of 3,009 questionnaires were collected. Of these 53.5% related to female children and 80% to students from public schools. Prevalence rates for diagnosed rhinitis, recent rhinitis and allergic rhinitis were 20, 29.3 and 12.2%, respectively. Rhinitis was more prevalent in private schools than in public ones (17.8 versus 14.1%) and sufferers were predominantly female. Prevalence rates were also higher among populations with higher socioeconomic status (23.5 versus 12.2%). Comparison with the 1996 data revealed significant increases in the prevalence of diagnosed rhinitis (12.7 versus 20%, p = 0.001). These increases were observed at all socioeconomic levels.CONCLUSION: A large number of 13 and 14-year-old children resident in the Distrito Federal exhibit symptoms indicative of rhinitis and the majority of them have allergic rhinitis.Over a six-year period the prevalence of allergic rhinitis increased significantly, predominantly affecting females and with greater prevalence among students at private school and from families with higher socioeconomic status.

Fisioterapia e amputação transtibial / Physical therapy and transtibial amputation

Amputação transtibial é definida como a retirada total ou parcial de um membro. Esse tipo de amputação, apesar de acarretar transtornos físicos e psicológicos ao paciente, é considerado como sendo de bom nível posicional, principalmente, para reabilitação e indicação de próteses. Esse estudo objetivou adicionar à literatura a descrição da importância de uma protetização precoce para indivíduos com amputação transtibial. A meta geral para os envolvidos com o tema é capacitar o paciente ao maior aproveitamento de suas potencialidades, proporcionando independência nas atividades diárias, no tratamento fisioterapêutico e nas variadas etapas durante o período pré e pós-operatório. Entre as técnicas mais utilizadas destaca-se a cinesioterapia, incluindo também, o tratamento do coto sem dor ou edema, com boa força muscular e apto para receber o soquete protético, orientações gerais no pré e pós-operatórios, uso das técnicas de eletroestimulação e treino de marcha, destacando-se a necessidade de individualização.