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.