"Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology"

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder haracterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP is caused by mutations in 8 distinct genes (XPA through XPG and XPV). The XP-V (variant) subtype of the disease results from mutations in a gene (XPV, also named POLH) which encodes for Polg, a member of the Y-DNA polymerase family. Although the presence and severity of skin and neurological dysfunctions differ between XP subtypes, there are overlapping clinical features among subtypes such that the sub-type cannot be deduced from the clinical features. In this study, in order to overcome this drawback, we undertook whole-exome sequencing in two XP sibs and their father. We identified a novel homozygous nonsense mutation (c.897T.G, p.Y299X) in POLH which causes the disease. Our results demonstrate that next generation sequencing is a powerful approach to rapid determination of XP genetic etiology.

Recognition of static and dynamic facial expressions: Influences of sex, type and intensity of emotion

Ecological validity of static and intense facial expressions in emotional recognition has been questioned. Recent studies have recommended the use of facial stimuli more compatible to the natural conditions of social interaction, which involves motion and variations in emotional intensity. In this study, we compared the recognition of static and dynamic facial expressions of happiness, fear, anger and sadness, presented in four emotional intensities (25 %, 50 %, 75 % and 100 %). Twenty volunteers (9 women and 11 men), aged between 19 and 31 years, took part in the study. The experiment consisted of two sessions in which participants had to identify the emotion of static (photographs) and dynamic (videos) displays of facial expressions on the computer screen. The mean accuracy was submitted to an Anova for repeated measures of model: 2 sexes x [2 conditions x 4 expressions x 4 intensities]. We observed an advantage for the recognition of dynamic expressions of happiness and fear compared to the static stimuli (p < .05). Analysis of interactions showed that expressions with intensity of 25 % were better recognized in the dynamic condition (p < .05). The addition of motion contributes to improve recognition especially in male participants (p < .05). We concluded that the effect of the motion varies as a function of the type of emotion, intensity of the expression and sex of the participant. These results support the hypothesis that dynamic stimuli have more ecological validity and are more appropriate to the research with emotions.

Determination of the Anthropometric and Physical Qualities Profile in Footballers Children of Bogotá

Objective. The objective of this study is to define the profile anthropometric and of basic physical qualities, in 306 children in 7-16 yearold ages. Method. Is carried out anthropometric mensurations of weight (kg) and it height (m), IMC (weight (kg)/it height (m2), percentage of corporal fat, besides the test of Course Navatte, horizontal jump without impulse, Sit and Reach to each one of the fellows. Results. The results were analyzed from the statistical point of view with measures of central tendency, you uses the stocking, the typical standard deviation as I calculate of variability, with a p <0,05 like significant difference. You identifies the variable anthropometric and of physical qualities finding differences in the population as for the percentage of corporal fat, the power aerobic, the flexibility and the explosive force in inferior members. Conclusions. Differences are shown in the opposing values and this can be influenced, for nutritional, socioeconomic factors and for the type of used training.