Haplotype analysis of DXS548 and FRAXAC1 microsatellite loci in Iranian patients with Fragile X Syndrome

Objective Fragile X syndrome (FXS) is the most common cause of inherited mental retardation caused by expansion of a (CGG) repeat region up to 1000 repeat in 5' region of the FMR1 gene located in FRAXA locus Xq27.3. To better understand the mechanism involved in expansion of CGG region, the molecular characteristic of the flanking microsatellite markers in the region must be clarify in different populations. This study has aimed to examine the potential association between specific haplotype and the expanded AC-repeat region in cases and controls chromosomes.Materials & methods Forty unrelated FXS males and 62 unrelated normal males originating from various regions of Iran were haplotyped by analyzing two CA-repeat markers, FRAXAC1 and DXS548.Results Significant linkage disequilibrium was obtained between DXS548 and FRAXAC1 specific marker alleles and CGG repeat expansion among 40 fragile X cases compared to 62 normal controls. The frequencies of DXS548 and FRAXAC1 longer alleles in patients are significantly higher than that in control group. Two FRAXAC1 long alleles were only observed in cases, possibly due to concatenated mutations. The increase of heterozygosities in fragile X cases (DXS548 78.6%, FRAXAC1 64.6%) in comparison to the controls (DXS548 63.0%, FRAXAC1 47.0%) showed a multimodal distribution of fragile X associated alleles.ConclusionHaplotype analyses with DXS548 and FRAXAC1 markers represented that haplotype distribution in the normal controls and FXS patients were significantly different, representing a weak founder effect. Keywords: FXS; DXS548; FRAXAC1; haplotype

Effect of self-modeling and self-controlled feedback on the performance of professional swimmers and waterpolo players

Self-modeling (SM) and self-control (SC) feedback can be presented as two solutions for learning improvement. Therefore, the aim of the present study was to investigate the effects of SM and SC feedback on 100-m freestyle performance of professional swimmers and waterpolo players. 25 elite male swimmers and waterpolo players, were randomly assigned to four groups: swimmer group with SM, swimmer group with SM and SC feedback, waterpolo players group with SM, and waterpolo players group with SM and SC feedback. 100-m freestyle times and performance were recorded. SM and SC feedback for the participants were utilized at the acquisition stage. The device used included a Lenovo B570 laptop and an Exilim ZR200 canon camcorder. SM and SC feedback presented to the swimmers and waterpolo players led to improved speed and results, and the effect of presenting SM with SC feedback to swimmers had better results. In conclusion, the present study indicates that SC modeling of watching video is a suitable method for professional swimmers. Water polo trainers can also use SM and SC feedback to enhance their players' swimming technique

Effects of External and Internal Focus of Attention in Motor Learning of Children Cerebral Palsy

The purpose of study was to examine the effects of external and internal focus of attention in the motor learning of children with cerebral palsy. The study involved 30 boys (7 to 12 years old) with CP type 1 who practiced throwing beanbags. The participants were randomly assigned to the internal focus, external focus, and control groups, and performed six blocks of 10-trial with attentional focus reminders during a practice phase and no reminders during retention and transfer tests. Analysis of variance (ANOVA) with repeated measures on the last factor was used. The results show that significant main effects were found for time and group. However, the interaction of time and group was not significant. Retention scores were significantly higher for the external focus group. The external focus group performed better than other groups; however, the internal focus and control groups’ performance did not differ. The study concluded that motor skills in Spastic Hemiparetic Cerebral Palsy (SHCP) children could be enhanced by external attention

Effects of home confinement on physical activity, nutrition, and sleep quality during the COVID-19 outbreak in amateur and elite athletes

IntroductionDespite the progress in the management of the pandemic caused by COVID-19, it is necessary to continue exploring and explaining how this situation affected the athlete population around the world to improve their circumstances and reduce the negative impact of changes in their lifestyle conditions that were necessitated due to the pandemic. The aim of this study was to analyze the moderating influence of physical activity (PA) and dietary habits on the impact of the COVID-19 pandemic experience on sleep quality in elite and amateur athletes.Materials and methodsA total of 1,420 elite (40.1%) and amateur (59.9%) athletes (41% women; 59% men) from 14 different countries participated in a cross-sectional design study. Data were collected using a battery of questionnaires that identified sociodemographic data, sleep quality index, PA levels, dietary habits, and the athletes' perception of their experience during the COVID-19 pandemic. Means and standard deviations were calculated for each variable. The analysis of variances and the correlation between variables were carried out with non-parametric statistics. A simple moderation effect was calculated to analyze the interaction between PA or dietary habits on the perception of the COVID-19 experience effect on sleep quality in elite and amateur athletes.ResultsThe PA level of elite athletes was higher than amateur athletes during COVID-19 (p < 0.001). However, the PA level of both categories of athletes was lower during COVID-19 than pre-COVID-19 (p < 0.01). In addition, amateurs had a higher diet quality than elite athletes during the pandemic (p = 0.014). The perception of the COVID-19 experience as controllable was significantly higher (p = 0.020) among elite athletes. In addition, two moderating effects had significant interactions. For amateur athletes, the PA level moderated the effect of controllable COVID-19 experience on sleep quality [F(3,777) = 3.05; p = 0.028], while for elite athletes, the same effect was moderated by dietary habits [F(3,506) = 4.47, p = 0.004].ConclusionElite athletes had different lifestyle behaviors compared to amateurs during the COVID-19 lockdown. Furthermore, the relevance of maintaining high levels of PA for amateurs and good quality dietary habits by elite athletes was noted by the moderating effect that both variables had on the influence of the controllable experience during the COVID-19 pandemic on sleep quality