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1.
Front Sports Act Living ; 6: 1387918, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38840953

RESUMO

The purpose of the present study was to examine differences in game-related statistics between winning and losing game outcomes and determine which performance parameters have the greatest impact in classifying winning from losing game outcomes at the National Collegiate Athletic Association (NCAA) Division-I men's basketball level of competition. The data scraping technique was used to obtain publicly available data over a 2018-2019 season span. The total number of games examined was 5,147. Independent t-tests were used to examine statistically significant differences between winning and losing game outcomes, while a full model discriminant function analysis was used to determine the relative contribution of each game-related statistic and its ability to classify winning from losing game outcomes (p < 0.05). Alongside scoring a greater number of points at the end of the game, the findings of the present study indicate that winning teams: (a) attempted and made more field goals, three-point, and free-throw shots, (b) accumulated more defensive and total rebounds, assists, steals, and blocks, (c) had fewer turnovers and personal fouls, and (d) secured greater field goal, three-point, and free-throw shooting percentage. Moreover, the top three performance parameters discriminating winning from losing game outcomes were field goal percentage, defensive rebounds, and assists, accounting for 16.8%, 12.2%, and 12.0% of the total percentage of explained variance, respectively (i.e., 41.0% combined). Overall, these findings support the expected roles of offensive and defensive game-related statistics and provide further insight into how they work together to optimize the chances of securing the desired game outcome.

2.
Front Sports Act Living ; 6: 1377528, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38711571

RESUMO

Introduction: While using force-plate derived measures of vertical jump performance, reflective of stretch-shortening-cycle (SSC) efficiency is common practice in sport science, there is limited evidence as to which tests and measures may be most sensitive toward neuromuscular fatigue. The aim of this study was to explore the SSC fatigue response to a one-week high-intensity fatiguing phase of training in National Collegiate Athletic Association (NCAA) Division-I basketball players. Methods: The study timeline consisted of three weeks of baseline measures, one week of high-intensity training, and two weeks of follow-up testing. Countermovement jumps (CMJ) and 10-5 hop tests were performed at baseline, as well as at two time-points during, and three time-points following the fatiguing training period, allowing for performance-comparisons with baseline. Results: Compared to the weekly training sum at baseline, during the high intensity training phase, athletes were exposed to very large increases in selected external load metrics (ES = 1.44-3.16), suggesting that athletes experienced fatigue acutely, as well as potential longer lasting reductions in performance. Vertical jump data suggested that in the CMJ, traditional metrics such as jump height, as well as metrics reflecting kinetic outputs and movement strategies, were sensitive to the stark increase in high-intensity training exposure. The 10-5 hop test suggested a fatigue-induced loss of tolerance to ground impact reflected by performance reductions in metrics related to jump height and reactive strength qualities. Discussion: These findings emphasize that when monitoring neuromuscular fatigue, variables and assessments may not be looked at individually, but rather as part of a more global monitoring approach.

3.
J Biol Chem ; : 107409, 2024 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-38796063

RESUMO

About 18% of all human cancers carry a mutation in the KRAS gene making it among the most sought-after anti-cancer targets. However, mutant KRas protein has proved remarkably undruggable. The recent approval of the first generation of RAS inhibitors therefore marks a seminal milestone in the history of cancer research. Inevitably though, it also raises the predictable challenges of limited drug efficacies and acquired resistance. Hence, new approaches that improve our understanding of the tumorigenic mechanisms of oncogenic RAS within more physiological settings continue to be essential. Here, we have employed the near-diploid human hTERT RPE-1 cells to generate isogenic cell lines in which one of the endogenous KRAS alleles carries an oncogenic KRAS mutation at glycine 12. Cells with a KRASG12V/+, KRASG12C/+, or KRASG12D/+ genotype, together with wild-type KRASG12G(WT)/+ cells, reveal that oncogenic KRAS.G12X mutations increase cell proliferation rate and cell motility and reduced focal adhesions in KRASG12V/+ cells. EGF-induced phosphorylation of ERK and AKT was comparable between KRASG12V/+, KRASG12C/+, KRASG12D/+, and KRASG12G(WT)/+ cells. Interestingly, KRASG12X/+ cells showed varying responses to distinct inhibitors with the KRASG12V/+ and KRASG12D/+ cells more sensitive to hydroxyurea and MEK inhibitors, U0126 and trametinib, but more resistant to PI3K inhibitor, PIK-90, than the KRASG12G(WT)/+ cells. A combination of low doses of hydroxyurea and U0126 showed an additive inhibition on growth rate that was greater in KRASG12V/+ than wild-type cells. Collectively, these cell lines will be a valuable resource for studying oncogenic RAS signalling and developing effective anti-KRAS reagents with minimum cytotoxicity on wild-type cells.

4.
Hum Mol Genet ; 2024 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-38776958

RESUMO

The ubiquitin-proteasome system mediates the degradation of a wide variety of proteins. Proteasome dysfunction is associated with neurodegenerative diseases and neurodevelopmental disorders in humans. Here we identified mutations in PSMC5, an AAA ATPase subunit of the proteasome 19S regulatory particle, in individuals with neurodevelopmental disorders, which were initially considered as variants of unknown significance. We have now found heterozygotes with the following mutations: P320R (6 individuals), R325W, Q160A, and one nonsense mutation at Q69. We focused on understanding the functional consequence of PSMC5 insufficiency and the P320R mutation in cells and found that both impair proteasome function and activate apoptosis. Interestingly, the P320R mutation impairs proteasome function by weakening the association between the 19S regulatory particle and the 20S core particle. Our study supports that proteasome dysfunction is the pathogenic cause of neurodevelopmental disorders in individuals carrying PSMC5 variants.

5.
Front Sports Act Living ; 6: 1394739, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38799031

RESUMO

Given its fast-growing popularity and unique on-court competitive demands, 3 × 3 basketball has captured a considerable amount of attention over recent years. However, unlike research focused on studying 5 × 5 basketball players, there is a lack of scientific literature focused on examining countermovement vertical jump (CMJ) and sprint performance characteristics of 3 × 3 athletes. Thus, the purpose of the present study was to compare force-time metrics during both eccentric and concentric phases of the CMJ and acceleration and deceleration capabilities between 3 × 3 and 5 × 5 top-tier professional male basketball athletes. Ten 3 × 3 and eleven 5 × 5 professional basketball players volunteered to participate in the present study. Upon completion of a standardized warm-up, each athlete performed three maximum-effort CMJs, followed by two 10 m sprints. A uni-axial force plate system sampling at 1,000 Hz was used to analyze CMJ force-time metrics and a radar gun sampling at 47 Hz was used to derive sprint acceleration-deceleration measures. Independent t-tests and Hedge's g were used to examine between-group statistically significant differences (p < 0.05) and effect size magnitudes. The findings of the present study reveal that 3 × 3 and 5 × 5 professional male basketball players tend to display similar neuromuscular performance characteristics as no significant differences were observed in any force-time metric during both eccentric and concentric phases of the CMJ (g = 0.061-0.468). Yet, prominent differences were found in multiple measures of sprint performance, with large effect size magnitudes (g = 1.221-1.881). Specifically, 5 × 5 basketball players displayed greater average and maximal deceleration and faster time-to-stop than their 3 × 3 counterparts. Overall, these findings provide reference values that sports practitioners can use when assessing athletes' CMJ and sprint performance capabilities as well as when developing sport-specific training regimens to mimic on-court competitive demands.

6.
Front Sports Act Living ; 6: 1407601, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38783868

RESUMO

Given the complex nature of the handball as a game, players are required to possess a distinct set of physical and physiological attributes to attain peak performance. With the countermovement vertical jump (CVJ) being widely implemented as a non-invasive and time-efficient testing modality in sports settings, the purpose of the present study was twofold: (a) to establish a CVJ profile of professional female handball players and (b) to examine differences in force-time metrics between starters and non-starters. Forty-two professional female handball players (e.g., SuperLeague) volunteered to participate in this study. Each athlete performed three maximum-effort CVJs with no arm swing while standing on a uni-axial force plate system sampling at 1,000 Hz. Independent t-tests were used to examine differences in each variable between starters and non-starters. The results revealed that starters attained superior performance within the eccentric phase of the CVJ when compared to non-starters, particularly in terms of eccentric peak velocity (-0.957 ± 0.242 vs. -0.794 ± 0.177 m·s-1), eccentric mean power (320.0 ± 77.7 vs. 267.1 ± 75.2 W), and eccentric peak power (929.0 ± 388.1 vs. 684.4 ± 214.2 W). While not reaching the level of statistical significance, moderate-to-large effect sizes were observed for concentric impulse, peak velocity, and mean and peak force and power, all in favor of players included in the starting lineup (g = 0.439-0.655). Overall, these findings suggest that at the top-tier level of handball competition, the ability to secure a spot in a starting lineup may be possibly influenced by the athlete's eccentric performance capabilities. Thus, the development of lower-body eccentric strength and power may positively impact on-court athlete performance and ultimately help the team secure the desired game outcome.

7.
Exp Physiol ; 109(6): 939-955, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38643471

RESUMO

Exercise-induced muscle adaptations vary based on exercise modality and intensity. We constructed a signalling network model from 87 published studies of human or rodent skeletal muscle cell responses to endurance or resistance exercise in vivo or simulated exercise in vitro. The network comprises 259 signalling interactions between 120 nodes, representing eight membrane receptors and eight canonical signalling pathways regulating 14 transcriptional regulators, 28 target genes and 12 exercise-induced phenotypes. Using this network, we formulated a logic-based ordinary differential equation model predicting time-dependent molecular and phenotypic alterations following acute endurance and resistance exercises. Compared with nine independent studies, the model accurately predicted 18/21 (85%) acute responses to resistance exercise and 12/16 (75%) acute responses to endurance exercise. Detailed sensitivity analysis of differential phenotypic responses to resistance and endurance training showed that, in the model, exercise regulates cell growth and protein synthesis primarily by signalling via mechanistic target of rapamycin, which is activated by Akt and inhibited in endurance exercise by AMP-activated protein kinase. Endurance exercise preferentially activates inflammation via reactive oxygen species and nuclear factor κB signalling. Furthermore, the expected preferential activation of mitochondrial biogenesis by endurance exercise was counterbalanced in the model by protein kinase C in response to resistance training. This model provides a new tool for investigating cross-talk between skeletal muscle signalling pathways activated by endurance and resistance exercise, and the mechanisms of interactions such as the interference effects of endurance training on resistance exercise outcomes.


Assuntos
Músculo Esquelético , Resistência Física , Treinamento Resistido , Transdução de Sinais , Humanos , Transdução de Sinais/fisiologia , Músculo Esquelético/fisiologia , Músculo Esquelético/metabolismo , Treinamento Resistido/métodos , Resistência Física/fisiologia , Animais , Adaptação Fisiológica/fisiologia , Exercício Físico/fisiologia , Modelos Biológicos
8.
Front Sports Act Living ; 6: 1389001, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38590296

RESUMO

As one of the fundamental volleyball skills, countermovement vertical jump (CMJ) has been commonly implemented in the applied sports setting as a non-invasive and time-efficient assessment of athletes' lower-body neuromuscular function. The purpose of the present study was to examine the differences in CMJ characteristics between starters and non-starters within a cohort of professional female volleyball players. Nineteen athletes competing in one of the top European leagues (i.e., SuperLeague) volunteered to participate in the present investigation. Following the completion of a warm-up protocol, each athlete performed three maximal-effort CMJs with no arm swing while standing on a uni-axial force plate system sampling at 1,000 Hz. The following force-time metrics were used for performance analysis purposes: braking phase duration and impulse, eccentric and concentric duration, mean and peak force and power, contraction time, jump height, and reactive strength index-modified. Mann-Whitney U and independent t-tests revealed no statistically significant differences (p > 0.05) during both eccentric and concentric phases of CMJ between the players included in the starting lineup (n = 9) and their substitutions (n = 10), with the effect sizes being small to moderate in magnitude (g = 0.053-0.683). While further research is warranted on this topic, these results suggest that securing a position in a starting lineup at the professional level of volleyball play may be more contingent on the player's ability to proficiently execute sport-specific skills (e.g., blocking, attacking), rather than the performance on the CMJ assessment, considering that the observed values for both groups fall within the desired ranges for this specific population of athletes.

9.
J Biol Chem ; 300(5): 107144, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38458397

RESUMO

Echinoderm microtubule-associated protein-like 4 (EML4)-anaplastic lymphoma kinase (ALK) oncogenic fusion proteins are found in approximately 5% of non-small cell lung cancers. Different EML4-ALK fusion variants exist with variant 3 (V3) being associated with a significantly higher risk than other common variants, such as variant 1 (V1). Patients with V3 respond less well to targeted ALK inhibitors, have accelerated rates of metastasis, and have poorer overall survival. A pathway has been described downstream of EML4-ALK V3 that is independent of ALK catalytic activity but dependent on the NEK9 and NEK7 kinases. It has been proposed that assembly of an EML4-ALK V3-NEK9-NEK7 complex on microtubules leads to cells developing a mesenchymal-like morphology and exhibiting enhanced migration. However, downstream targets of this complex remain unknown. Here, we show that the microtubule-based kinesin, Eg5, is recruited to interphase microtubules in cells expressing EML4-ALK V3, whereas chemical inhibition of Eg5 reverses the mesenchymal morphology of cells. Furthermore, we show that depletion of NEK7 interferes with Eg5 recruitment to microtubules in cells expressing EML4-ALK V3 and cell length is reduced, but this is reversed by coexpression of a phosphomimetic mutant of Eg5, in a site, S1033, phosphorylated by NEK7. Intriguingly, we also found that expression of Eg5-S1033D led to cells expressing EML4-ALK V1 adopting a more mesenchymal-like morphology. Together, we propose that Eg5 acts as a substrate of NEK7 in cells expressing EML4-ALK V3 and Eg5 phosphorylation promotes the mesenchymal morphology typical of these cells.


Assuntos
Cinesinas , Quinases Relacionadas a NIMA , Proteínas de Fusão Oncogênica , Quinases Relacionadas a NIMA/metabolismo , Quinases Relacionadas a NIMA/genética , Humanos , Fosforilação , Proteínas de Fusão Oncogênica/metabolismo , Proteínas de Fusão Oncogênica/genética , Cinesinas/metabolismo , Cinesinas/genética , Microtúbulos/metabolismo , Microtúbulos/genética , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/genética , Carcinoma Pulmonar de Células não Pequenas/metabolismo , Carcinoma Pulmonar de Células não Pequenas/patologia , Carcinoma Pulmonar de Células não Pequenas/genética , Mesoderma/metabolismo , Mesoderma/patologia , Linhagem Celular Tumoral , Proteínas Serina-Treonina Quinases/metabolismo , Proteínas Serina-Treonina Quinases/genética
10.
IEEE Open J Eng Med Biol ; 5: 140-147, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38445237

RESUMO

Goal: Urinary incontinence (UI) affects a significant proportion of the population and is associated with negative physical and psychological side-effects. Microwave-based technologies may have the potential to monitor bladder volume, providing a proactive, low-cost and non-invasive tool to support individuals with UI. Methods: Studies to date on microwave bladder monitoring have been limited to highly simplified computational and experimental scenarios. In this work, we study the most realistic models to date (both male and female), which incorporate dielectrically and anatomically representative tissues of the pelvic region. Results: We examine the ability of detecting bladder fullness through both reflection and transmission-based parameters and, for the first time, study the effect of urine permittivity. As a proof-of-concept of bladder state detection, we further investigate reconstructing differential radar images of the bladder with two different volumes of urine. Conclusions: The results indicate that there is strong potential for monitoring and detecting the bladder state using microwave measurements.

11.
J Strength Cond Res ; 38(5): e253-e263, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38241475

RESUMO

ABSTRACT: Philipp, NM, Cabarkapa, D, Blackburn, SD, and Fry, AC. Dose-response relationship for external workload and neuromsuclar performance over a female, collegiate, basketball season. J Strength Cond Res 38(5): e253-e263, 2024-The aim of this study was to investigate the relationship between external workload exposure and changes in countermovement jump force-time characteristics over the course of an entire basketball season, in a sample of National Collegiate Athletic Association Division I, female, basketball players. Data for 12 players were retrospectively analyzed, with external workload being quantified by means of an exponentially weighted, acute, and chronic workload, as well as an acute:chronic workload ratio derived from an inertial measurement unit-based system worn by athletes for all practices and games during the regular season. Countermovement jumps were performed on a total of 26 test days over the span of the in-season competitive period. To statistically analyze these relationships, and to account for multiple observations of the same athletes in a data set, linear mixed-effects models with athlete identity (ID) intercept as the random effect were used. Study findings suggested that associations between external workload exposure and respective force-time characteristics after controlling for the random effect of athlete ID were dependent on the specific metric or metric subgroup used, as well as the type of workload exposure (e.g., acute vs. chronic). Force-time signatures from the braking phase (e.g., average braking force) seemed to be particularly associated with higher degrees of acute workload exposure, whereas strategy-based metrics such as countermovement depth showed significant associations with chronic workload exposure. Furthermore, model results suggested the importance of analyzing neuromuscular responses to external workload on an individual basis, rather than across an entire team. Findings might help practitioners in their selection process related to metrics of interest in monitoring neuromuscular fatigue and readiness.


Assuntos
Desempenho Atlético , Basquetebol , Humanos , Feminino , Basquetebol/fisiologia , Desempenho Atlético/fisiologia , Adulto Jovem , Estudos Retrospectivos , Atletas/estatística & dados numéricos , Carga de Trabalho , Força Muscular/fisiologia
12.
J Strength Cond Res ; 38(2): e72-e77, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38258833

RESUMO

ABSTRACT: Cabarkapa, DV, Cabarkapa, D, Philipp, NM, and Fry, AC. Competitive season-long changes in countermovement vertical jump force-time metrics in female volleyball players. J Strength Cond Res 38(2): e72-e77, 2024-Although force plates remain one of the most widely used tools for neuromuscular performance assessment in applied sports-specific settings, there is still a lack of scientific literature focused on studying changes in countermovement vertical jump (CVJ) performance in team sports such as volleyball, especially within the female athlete population. Thus, the purpose of the present study was to examine season-long neuromuscular performance changes in volleyball players. Eighteen National Association of Intercollegiate Athletics Division-I collegiate female athletes performed 3 maximal-effort CVJs while standing on a uniaxial force plate system sampling at 1,000 Hz at 5 different testing timepoints throughout a competitive season span (∼11 weeks). The testing sessions were separated 2-3 weeks apart and performed at the approximately same time of the day (12:00 hours). Repeated-measures analysis of variance revealed that both concentric and eccentric force-time metrics remain relatively unchanged throughout a regular season span (e.g., concentric peak force and power, eccentric impulse and duration). However, the eccentric metrics such as peak and mean power and peak velocity displayed a slight improvement after a brief tapering period purposely implemented before the post-season competition to optimize the athlete's recovery (∼15, 18, and 14% increase, respectively). In addition, the outcome metrics such as vertical jump height and reactive strength index-modified did not display notable fluctuations across the competitive season span. These findings can help coaches, sports scientists, and strength and conditioning practitioners to obtain a deeper insight into collegiate female athletes' force-time characteristics that may aid with developing adequate training regimens targeted toward optimizing on-court performance.


Assuntos
Voleibol , Humanos , Feminino , Estações do Ano , Atletas , Posição Ortostática , Esportes de Equipe
13.
J Strength Cond Res ; 38(1): 74-79, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-37815260

RESUMO

ABSTRACT: Philipp, NM, Crawford, DA, Cabarkapa, D, and Fry, AC. Strength and power thresholds to identify high and low linear sprint speed performers in collegiate American football players. J Strength Cond Res 38(1): 74-79, 2024-Lower-body strength and power are commonly measured performance qualities across a number of sports. In recent years, more attention has been given to relationships, primarily between lower-body strength and linear speed performance. While still limited, evidence is in agreement that lower-body strength positively contributes to linear speed performance. However, what is less well understood is if there comes a point in an athlete's development, at which, further working on increasing maximal strength may not fully compliment additional gains in speed performance. Within this study, authors aimed to provide practitioners with lower-body strength and power thresholds that can discriminate between slow and fast performers, within a group of collegiate American football players. The sample was further divided into a high-body and low-body weight group, and authors hypothesized that by using logistic regression, supplemented with receiver operator curve analyses, optimal cut-off points (i.e., relative lower-body strength thresholds) that are able to significantly discriminate between slow and fast linear speed performers may be identified. Findings indicate that optimal cut-off scores differed between the groups of athletes, as well as the lower body strength and power tests. All models were able to significantly distinguish between slower and faster performers, and area under the curve values ranged from 0.695 to 0.903. Although thresholds will likely vary based on factors such as sex, training age, and sport, findings from this investigation may be used to benchmark athletes and to further individualize training aimed at improving linear speed performance.


Assuntos
Desempenho Atlético , Futebol Americano , Humanos , Universidades , Atletas , Força Muscular
14.
Sports (Basel) ; 11(12)2023 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-38133106

RESUMO

While various quantifiable physical attributes have been found to contribute to athletes' performance, there is a lack of scientific literature focused on examining how they relate to success during competition performance. The aim of this study was to investigate different countermovement jump (CMJ)-derived force-time characteristics and their utility in distinguishing high from low performers within a measure of on-court contribution (i.e., minutes per game played). Twenty-nine collegiate athletes (n = 15 males and n = 14 females) volunteered to participate in this investigation and performed CMJs on dual force plates sampling at 1000 Hz, weekly over the course of their basketball season. The athletes' average of their three best test-days across the season was used for further analysis. To identify their on-court contribution, athletes were divided into groups with high and low minutes per game, based on a median-split analysis. The findings suggest that at the overall group level (i.e., both genders), the modified reactive strength index (mRSI) and braking rate of force development (RFD) revealed the greatest between-group magnitudes of difference, with athletes playing more minutes per game showing greater performance. At the team-specific level, the braking RFD, average braking velocity, and mRSI were shown to be the greatest differentiators between groups for the men's team. The women's high-minutes group displayed greater magnitudes of mRSI and jump height. By identifying the neuromuscular qualities seen in top performers within their respective populations, the attributed physical performance underpinning these qualities may be identified, providing practitioners with insights into physical performance qualities and training methodologies that have the potential to influence basketball performance.

15.
Sports (Basel) ; 11(11)2023 Nov 20.
Artigo em Inglês | MEDLINE | ID: mdl-37999447

RESUMO

Although different strategies have been implemented to manage recovery-fatigue status in athletes, there is still a lack of consensus on which recovery protocols have the greatest impact and effectiveness when implemented with basketball players, including both physiological and psychological recovery methods. Thus, the purpose of this systematic review is to: (a) determine which recovery methods attain the greatest benefit in restoring the process of attenuating fatigue and (b) provide sports practitioners with guidelines on how some of the most effective recovery strategies can be used to optimize athletes' recovery and ultimately enhance their performance. Using the PRISMA guidelines, a total of 3931 research reports were obtained through four database searches (i.e., PubMed, Scopus, Cochrane, and Web of Science), from which only 25 met the inclusion and exclusion criteria. The recovery protocols analyzed in this systematic review were: sleep, nutrition, hydration, ergogenic aids, cold-water immersion, compression garments, massage, acupuncture, tapering, mindfulness, and red-light irradiation. The results revealed that all recovery strategies are capable of attenuating fatigue and enhancing recovery in basketball players to a certain degree. However, an individualized approach should be promoted, where a combination of proactive recovery modalities appears to result in the most rapid rates of recovery and athletes' ability to maintain high-level performance. Recovery should be programmed as an integral component of training regimens. Also, cooperation and communication between coaches, players, and the rest of the team staff members are essential in minimizing the risk of non-functional overreaching or injury and optimizing basketball players' on-court performance.

16.
Cell Mol Life Sci ; 80(11): 345, 2023 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-37921875

RESUMO

AMPA receptors are members of the glutamate receptor family and mediate a fast component of excitatory synaptic transmission at virtually all central synapses. Thus, their functional characteristics are a critical determinant of brain function. We evaluate intolerance of each GRIA gene to genetic variation using 3DMTR and report here the functional consequences of 52 missense variants in GRIA1-4 identified in patients with various neurological disorders. These variants produce changes in agonist EC50, response time course, desensitization, and/or receptor surface expression. We predict that these functional and localization changes will have important consequences for circuit function, and therefore likely contribute to the patients' clinical phenotype. We evaluated the sensitivity of variant receptors to AMPAR-selective modulators including FDA-approved drugs to explore potential targeted therapeutic options.


Assuntos
Doenças do Sistema Nervoso , Humanos , Doenças do Sistema Nervoso/genética , Transmissão Sináptica/fisiologia , Receptores de AMPA/genética , Receptores de AMPA/metabolismo , Sinapses/metabolismo
17.
Front Sports Act Living ; 5: 1272478, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37953862

RESUMO

The purpose of the present study was to examine the acute impact of resistance exercise on basketball shooting mechanics and accuracy. Ten resistance-trained recreationally active men with previous basketball playing experience (x̄ ± SD; height = 182.6 ± 9.7 cm; body mass = 79.2 ± 13.9 kg; age = 25.6 ± 5.5 years) performed control, upper-body, and lower-body training sessions in randomized order followed by 5 sets of stationary free-throw (4.57 m), two-point (5.18 m) and three-point (6.75 m) basketball shooting drills in 30 min time increments. Each testing session was separated 3-7 days apart. Kinematic variables during both the preparatory and release phases of the shooting motion were derived from a high-definition camera recording at 120 fps positioned 10 m away perpendicular to the participant's shooting plane of motion. Restricted maximum likelihood linear mixed-effects model analysis revealed that a combination of all fixed effects could account for <1% of the total variance in each dependent variable pertaining to basketball shooting mechanics. A 9.9-11.8% decrease in two-point and three-point shooting accuracy was observed immediately following an upper-body training session. However, the observed performance suppression disappeared 30 min post-exercise completion. Overall, the findings suggest that performing upper-body or lower-body resistance training prior to on-court practice sessions has no impact on free-throw, two-point, and three-point biomechanical parameters examined in the present study and a minor acute impact on mid-range and long-range shooting accuracy in male basketball players.

18.
J Strength Cond Res ; 37(11): e609-e612, 2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-37883409

RESUMO

ABSTRACT: Cabarkapa, D, Cabarkapa, DV, Philipp, NM, Knezevic, OM, Mirkov, DM, and Fry, AC. Pre-post practice changes in countermovement vertical jump force-time metrics in professional male basketball players. J Strength Cond Res 37(11): e609-e612, 2023-Despite the countermovement vertical jump (CVJ) being one of the most popular noninvasive and time-efficient methods for monitoring neuromuscular status, there is a lack of scientific literature focused on examining fatigue-induced alterations in performance in elite athletes. Thus, the purpose of this study was to examine changes in force-time metrics pre-post practice in professional male basketball players. Seventeen athletes competing in first-tier and second-tier national basketball leagues in Europe participated in this study. While standing on a uniaxial force plate sampling at 1,000 Hz, each athlete completed 3 CVJs pre-practice and post-practice. The practice consisted of individual and team shooting drills, position-specific player development drills, 5-on-0 offensive actions, and 5-on-5 play, including full-court transition (∼2 hours). The findings reveal that pre-post practice changes in force-time metrics seem to be phase specific. Despite a trivial increase in eccentric mean force (920.4 ± 100.2, 929.4 ± 100.0 N), most changes were observed within the concentric phase of the CVJ. The concentric phase duration increased pre-post practice (0.233 ± 0.027, 0.242 ± 0.033 seconds), whereas concentric impulse (262.9 ± 18.8, 258.6 ± 21.6 N·s), peak velocity (2.93 ± 0.22, 2.86 ± 0.22 m·s-1), mean force (2052.4 ± 179.2, 2002.7 ± 188.2 N), mean power (3,165.5 ± 269.5, 3,030.9 ± 326.8 W), and peak power (5,523.4 ± 607.3, 5,246.6 ± 663.7 W) experienced a significant decrease. Moreover, alongside longer contraction time (0.663 ± 0.065, 0.686 ± 0.074 seconds), lower vertical jump height (41.0 ± 6.8, 38.9 ± 6.6 cm) and reactive strength index-modified (0.634 ± 0.113, 0.579 ± 0.111 m·s-1) values were observed post-practice. Overall, these findings may allow practitioners to detect fatigue-induced changes in CVJ force-time metrics in professional male basketball players that can ultimately improve the acute and longitudinal training-adaptation monitoring process.


Assuntos
Desempenho Atlético , Basquetebol , Humanos , Masculino , Força Muscular , Atletas , Europa (Continente)
19.
Eur J Hum Genet ; 31(12): 1421-1429, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37704779

RESUMO

Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene. We ascertained 19 individuals from 15 families with likely pathogenic or pathogenic PHF6 variants (11 males and 8 females). One family had previously been reported. Six variants were novel. We analysed the clinical and genetic findings in our series and compared them with reported BFLS patients. Affected males had classic features of BFLS including intellectual disability, distinctive facies, large ears, gynaecomastia, hypogonadism and truncal obesity. Carrier female relatives of affected males were unaffected or had only mild symptoms. The phenotype of affected females with de novo variants overlapped with the males but included linear skin hyperpigmentation and a higher frequency of dental, retinal and cortical brain anomalies. Complications observed in our series included keloid scarring, digital fibromas, absent vaginal orifice, neuropathy, umbilical hernias, and talipes. Our analysis highlighted sex-specific differences in PHF6 variant types and locations. Affected males often have missense variants or small in-frame deletions while affected females tend to have truncating variants or large deletions/duplications. Missense variants were found in a minority of affected females and clustered in the highly constrained PHD2 domain of PHF6. We propose recommendations for the evaluation and management of BFLS patients. These results further delineate and extend the genetic and phenotypic spectrum of BFLS.


Assuntos
Hipogonadismo , Deficiência Intelectual , Deficiência Intelectual Ligada ao Cromossomo X , Masculino , Humanos , Feminino , Deficiência Intelectual/genética , Deficiência Intelectual Ligada ao Cromossomo X/genética , Hipogonadismo/genética , Hipogonadismo/complicações , Hipogonadismo/diagnóstico , Obesidade/genética
20.
J Strength Cond Res ; 37(10): e563-e568, 2023 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-37729519

RESUMO

ABSTRACT: Chiu, LZF, Fry, AC, Galpin, AJ, Salem, GJ, and Cabarkapa, D. Regulatory light-chain phosphorylation during weightlifting training: association with postactivation performance enhancement. J Strength Cond Res 37(10): e563-e568, 2023-Postactivation performance enhancement has been reported for multijoint resistance exercise, with both neural and intrinsic muscle mechanisms suggested as contributing factors. The purpose of this investigation was to examine whether regulatory light-chain (RLC) phosphorylation in a primary mover is associated with enhanced weightlifting performance. Nine male athletes performed 15 sets of 3 repetitions of a multijoint weightlifting activity (clean pull) at 85% 1 repetition maximum. Measures of performance, peak barbell velocity (PV), and average barbell power (AP) were determined by video analysis. Muscle biopsies were taken within 30-60 seconds of completion of the previous lifting set from the vastus lateralis before (PRE), during (MID), and after (POST) a training session. AP was significantly greater for sets 3, 4, and 5 compared with set 1, with large effect sizes (0.8-1.0). Increases in PV did not reach significance; however, the effect size increase for sets 3 and 4 versus set 1 was moderate (0.4). Relative change scores for AP and RLC phosphorylation were positively and negatively correlated at MID (r = 0.60; p = 0.05) and POST (r = -0.74; p = 0.01) exercise, respectively. These data suggest that RLC phosphorylation initially may be associated with postactivation performance enhancement during repeated multijoint exercise.


Assuntos
Exercício Físico , Levantamento de Peso , Masculino , Humanos , Fosforilação , Atletas , Biópsia
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