A alexitimia na categorização de emoções em expressões faciais dinâmicas

A alexitimia é o termo usado para caracterizar as pessoas com défices no processamento, na compreensão e na descrição de emoções. Definida também como um traço de personalidade multifatorial, a alexitimia tem uma prevalência de 10% na população em geral e está associada a uma menor qualidade de vida. Apesar de este estudo incidir-se numa população saudável, a alexitimia está frequentemente associada a patologias físicas e perturbações mentais. O objetivo deste estudo consistiu em verificar a influência da alexitimia na categorização das expressões faciais emocionais, numa tarefa de apresentação de faces dinâmicas. 87 participantes com diferentes índices de alexitimia completaram uma tarefa que consistia na apresentação de faces dinâmicas cujo o intuito era categorizar as expressões faciais de raiva, nojo e alegria. A precisão das respostas e os níveis de intensidade emocional foram manipulados. Os resultados indicaram que os indivíduos, no geral, identificaram mais precisamente e com menores níveis de intensidade emocional a expressão de alegria comparativamente com as expressões negativas (raiva e nojo). Verificou-se também diferenças significativas entre a alexitimia e as expressões faciais emocionais relativamente à precisão na categorização. Deste modo, foi possível verificar neste estudo, que indivíduos com altos níveis de alexitimia foram significativamente menos precisos na identificação da expressão facial de raiva comparativamente com indivíduos com baixos níveis de alexitimia.

Molecular markers for diabetic nephropathy

Type 2 diabetes is one of the most common metabolic disorders in the world. Globally, the prevalence of this disorder is predicted to increase, along with the risk of developing diabetic related complications. One of those complications is diabetic nephropathy, defined by a progressive increase in proteinuria and a gradual decline in renal function. Approximately 25% to 30% of type 2 diabetic individuals develop this complication. However, its underlying genetic mechanisms remain unclear. Thus, the aim of this study is to contribute to the discovery of the genetic mechanisms involved in the development and progression of diabetic nephropathy, through the identification of relevant genetic variants in Portuguese type 2 diabetic individuals. The exomes of 36 Portuguese type 2 diabetic individuals were sequenced on the Ion ProtonTM Sequencer. From those individuals, 19 did not present diabetic nephropathy, being included in the control group, while the 17 individuals that presented the diabetic complication formed the case group. A statistical analysis was then performed to identify candidate common genetic variants, as well as genes accumulating rare variants that could be associated with diabetic nephropathy. From the search for common variants in the study population, the statistically significant (p-value ≤ 0.05) variants rs1051303 and rs1131620 in the LTBP4 gene, rs660339 in UCP2, rs2589156 in RPTOR, rs2304483 in the SLC12A3 gene and rs10169718 present in ARPC2, were considered as the most biologically relevant to the pathogenesis of diabetic nephropathy. The variants rs1051303 and rs1131620, as well as the variants rs660339 and rs2589156 were associated with protective effects in the development of the complication, while rs2304483 and rs10169718 were considered risk variants, being present in individuals with diagnosed diabetic nephropathy. In the rare variants approach, the genes with statistical significance (p-value ≤ 0.05) found, the STAB1 gene, accumulating 9 rare variants, and the CUX1 gene, accumulating 2 rare variants, were identified as the most relevant. Both genes were considered protective, with the accumulated rare variants mainly present in the group without the renal complication. The present study provides an initial analysis of the genetic evidence associated with the development and progression of diabetic nephropathy, and the results obtained may contribute to a deeper understanding of the genetic mechanisms associated with this diabetic complication.