Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate homeostasis in the etiology of IBGC.

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Ransdell, LB, Murray, T, Gao, Y, Jones, P, and Bycura, D. A 4-year profile of game demands in elite women's Division I college basketball. J Strength Cond Res 34(3): 632-638, 2020-Workload for a Division I women's collegiate basketball team (0.817 win percentage) was examined by: (a) season, (b) player position, and (c) game outcome (wins vs. losses). Female athletes (n 5 6, mean 19.7 6 1.5 years, at beginning of study) wore Catapult S5 units during 91.8% of games over a 4-year period. Average PlayerLoad, PlayerLoad per minute (PL•min 21), high inertial movement analysis (high-IMA), and jumps were quantified using Catapult Openfield software (version 1.14.1+). Data were checked for normality and log-or square-root-transformed when they were non-normal. A series of linear mixed model analyses were conducted to detect differences in PlayerLoad, PL•min 21 , high-IMA, and jumps by season, position, and game outcome. PL•min 21 and jumps data were not normal, so they were transformed, analyses were run; because there were no differences in findings, data are reported in original units to allow for comparisons with other studies. Cohen's d and confidence intervals were provided as additional information about the strength of reported differences. The 3 most consistent findings were that across a 4-year period, jumps increased, PL•min 21 was higher in guards compared with posts, and high-IMA was higher in losses compared with wins. Other workload patterns were inconsistent, and inappropriate for making conclusive statements. Therefore, comparing jumps across multiple seasons, PL•min 21 by player position and high-IMA in losses are important; in addition, all data can be used to profile National Collegiate Athletic Association Division I women's basketball players and set game workload expectations.

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The purpose of this study was to examine physiologic performance test differences by competition level (high school and Division-I collegiate athletes) and player position (hitter, setter, defensive specialist) in 4 volleyball-related tests. A secondary purpose was to establish whether a 150-yd shuttle could be used as a field test to assess anaerobic capacity. Female participants from 4 varsity high school volleyball teams (n = 27) and 2 Division-I collegiate volleyball teams (n = 26) were recruited for the study. Participants completed 4 performance-based field tests (vertical jump, agility T-test, and 150- and 300-yd shuttle runs) after completing a standardized dynamic warm-up. A 2-way multivariate analysis of variance with Bonferroni post hoc adjustments (when appropriate) and effect sizes were used for the analyses. The most important findings of this study were that (a) college volleyball athletes were older, heavier, and taller than high school athletes; (b) high school athletes had performance deficiencies in vertical jump/lower-body power, agility, and anaerobic fitness; (c) lower-body power was the only statistically significant difference in the performance test measures by player position; and (d) the correlation between the 150- and 300-yd shuttle was moderate (r = 0.488). Female high school volleyball players may enhance their ability to play collegiate volleyball by improving their vertical jump, lower-body power, agility, and anaerobic fitness. Furthermore, all player positions should emphasize lower-body power conditioning. These physical test scores provide baseline performance scores that should help strength and conditioning coaches create programs that will address deficits in female volleyball player performance, especially as they transition from high school to college.

Idiopathic basal ganglia calcification (IBGC) is a neurodegenerative disorder that is characterized by basal ganglia and extrabasal ganglia calcification, and usually inherited in an autosomal dominant pattern. To date, two genetic loci for IBGC were identified on chromosomes 14q and 2q, but further genetic heterogeneity clearly exists. In this study, a large Chinese family with autosomal dominant IBGC was characterized. Linkage analysis excluded the 14q13 and 2q37 loci. The large family was then characterized by genome-wide linkage analysis to identify a novel genetic locus for IBGC. Significant linkage was identified with markers on chromosome 8p21.1-q11.23 with a maximum LOD score of 4.10. Fine mapping defined the new genetic locus within a 25 Mb region between markers D8S1809 and D8S1833. Future studies of the candidate genes at the 8p21.1-q11.23 locus may lead to identification of a disease-causing gene with IBGC.

This study examined off-ice fitness profiles of 204 elite female ice hockey players from 13 countries who attended a high-performance camp organized by the International Ice Hockey Federation (IIHF) in Bratislava, Slovakia, in July of 2011. Athletes were tested using standardized protocols for vertical jump (centimeters), long jump (centimeters), 4-jump average (centimeters), elasticity ratio (4-vertical jump average/vertical jump), pull-up or inverted row (n), aerobic fitness (V[Combining Dot Above]O2max), body mass (kilograms), and body composition (% fat). These variables were examined relative to team success in major international hockey competition (group 1: Canada and USA, group 2: Sweden and Finland, group 3: All other participating countries), age group (Under 18 and Senior/Open Levels), and player position (forwards, defenders, and goalies). The athletes from countries with the best international records weighed more, yet had less body fat, had greater lower body muscular power and upper body strength, and higher aerobic capacity compared with their less successful counterparts. Compared with the younger athletes, athletes from the senior-level age group weighed more and had higher scores for lower body power, pull-ups, and aerobic capacity. There were no significant differences in anthropometric or fitness data based on player position. This study is the first to report the physical characteristics of a worldwide sample of elite female ice hockey players relative to team performance, age, and player position. Coaches should use these data to identify talent, test for strengths and weaknesses in conditioning programs, and design off-ice programs that will help athletes match the fitness profiles of the most successful teams in the world.

BackgroundActive educational video games (AVGs) appear to have a positive effect on elementary school students' motivation leading to enhanced learning outcomes. The purpose of this study was to identify the effectiveness of an AVG on elementary school students' science knowledge learning, physical activity (PA) level, and interest-based motivation.MethodsIn this randomized controlled study, 53 elementary school students were assigned to an experimental condition or a comparison condition. The experimental condition provided an AVG learning environment, whereas the comparison condition was based on sedentary educational video games.ResultsThe results of repeated measures analysis of variance (ANOVA) on the knowledge test showed that students in both groups performed better on the post-test than they did on the pre-test (p < 0.001, η2 = 0.486), and their post-test scores did not differ significantly. The experimental condition provided a more active environment since the students' average heart rates (HRs) were in the Target-Heart-Rate-Zone (HR = 134 bpm), which was significantly higher than the average HR (103 bpm) from the comparison condition (t = 7.212, p < 0.001). Students in the experimental condition perceived a higher level of situational interest than their counterparts in the comparison group (p < 0.01, and η2 = 0.301).ConclusionThese results suggest that AVGs benefit children more in terms of PA and motivation than traditional video games by providing an enjoyable learning experience and sufficient PA.