Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies.

OBJECTIVE: To evaluate the clinical predictors of positive genetic investigation in developmental and epileptic encephalopathies, beyond the influence of Dravet Syndrome. METHODS: The study included 98 patients diagnosed with developmental and epileptic encephalopathies. The patients underwent Sanger sequencing of SCN1A, Chromosomal Microarray Analysis, and Whole Exome Sequencing. The association of clinical variables with a positive genetic test was investigated using univariate and multivariate analysis. RESULTS: Genetic diagnosis was identified in 47 (48 %) patients with developmental and epileptic encephalopathies. Beyond Dravet Syndrome influence, first seizure in the context of fever (p < 0.01), seizures precipitated by temperature (p = 0.04), cognitive regression (p = 0.04), hypotonia (p < 0.01), and focal seizures (p = 0.03) increased the chances of a positive genetic investigation. In contrast, atonic seizures (p = 0.01) and generalized discharges on electroencephalogram (p = 0.02) decreased the chances. Dravet Syndrome was positively associated with a genetic developmental and epileptic encephalopathies etiology (p < 0.01), whereas epilepsy with myoclonic-atonic seizures (p = 0.01), developmental and epileptic encephalopathies with spike-wave activation in sleep (p = 0.04), and Lennox-Gastaut syndrome (p = 0.03) were negatively associated. In multivariate analysis, the first seizure in the context of fever (p < 0.01) and hypotonia (p = 0.02) were positively, and atonic seizures (p = 0.01) were negatively and independently associated with a genetic etiology. CONCLUSION: The predictive variables of genetic investigation in developmental and epileptic encephalopathies are first seizure in the context of fever and hypotonia, whereas atonic seizures decrease the chances of finding a genetic cause for developmental and epileptic encephalopathies. Regarding epileptic syndromes, Dravet Syndrome is highly associated with a positive genetic test, whereas epilepsy with myoclonic-atonic seizures, developmental and epileptic encephalopathies with spike-wave activation in sleep, and Lennox-Gastaut syndrome are rarely associated with a positive genetic investigation.

Does Testosterone Modulate Mood States and Physical Performance in Young Basketball Players?

This study aimed to examine and compare mood states profile and physical performance during different training phases between 2 groups of adolescent basketball players that were differentiated according to baseline testosterone concentration (T). The basketball players were submitted to an intensified training period (OVL) followed by a tapering period (TP). Twenty-three young male basketball players initiated the study. Experimental criteria data were used to stratify 16 players into high-testosterone (HTC) or low-testosterone (LTC) concentration groups. All the 16 athletes undertook 5 weeks of OVL followed by a 3-week TP. Saliva sampling, Yo-Yo intermittent recovery level 1 (Yo-Yo IRL1) test and the T-test were conducted at the beginning (T1), after OVL (T2), and after TP (T3). A similar increase in internal training load was observed during OVL when compared with TP in both groups (p < 0.05). No difference in mood states was observed between groups (p > 0.05); however, LTC displayed a higher score for fatigue (p < 0.05) and a lower score for energy index (p < 0.05) in OVL, compared with TP. A significant improvement in the Yo-Yo IRL1 test and the T-test was observed (T1 to T3) (p < 0.05), with no difference between groups (p > 0.05). In conclusion, these results suggest that LTC athletes may be more susceptible to changes in mood states during intensified training periods. In addition, data indicate that a periodized training program successfully improved the physical performance (endurance and agility) of young basketball players; however, this improvement was not affected by testosterone level.

Effects of exercise on electroencephalographic mean frequency in depressed elderly subjects.

BACKGROUND: An analysis of cortical activity by electroencephalogram (EEG) may show different patterns in depressed and normal individuals. OBJECTIVES: Our study aimed (1) to compare the total mean frequency (TMF) and mean EEG frequency per bands (MFB) in depressed and healthy elderly individuals, and (2) to verify the effect of exercise as an additional treatment for major depressive disorder (MDD; according to DSM-IV) via an assessment of depressive symptoms, TMF and MFB. METHODS: This research was divided into 2 studies. In study 1, we assessed 45 elderly individuals (13 normal and 32 depressive) in a cross-sectional design to search for differences in TMF and MFB. In study 2, we conducted a longitudinal study to assess the effect of exercise on MDD. Twenty depressed elderly persons who were on clinical treatment were allocated to a control group or an exercise group. Subjects were assessed at baseline and after 6 months with the Hamilton Depression Rating Scale, also assessing the TMF and MFB. RESULTS: Our cross-sectional study showed that a lower mean frequency (MF) in posterior areas is related to depression in the elderly. Moreover, in our longitudinal study, we observed that depressed elderly individuals showed a better response to treatment and an increase in MF after physical training. CONCLUSION: The interaction between exercise and pharmacological treatment may increase the TMF in posterior areas of depressed elderly individuals after 6 months.

Electroencephalographic frontal asymmetry and depressive symptoms in the elderly.

Although neurophysiological changes of aging are well known, there is still much to learn about cortical asymmetry in older depressed subjects. This study aimed at assessing differences between depressed and normal elderly subjects on alpha asymmetry, and to observe the correlations of this measure with depressive symptoms and quality of life. Thirty-six subjects (14 normal and 22 depressed) were assessed by EEG, depression rating scales, and SF-36. Despite the fact that compared to healthy elderly, depressive elderly subjects showed relatively greater right frontal activity (F4F3) and relatively greater left parietal activity (P4P3); this difference was not significant. The relationship between depression and frontal asymmetry was better observed in healthy elderly, where relatively greater left frontal activity was associated with less depressive symptoms.