Genomic dissection and mutation-specific target discovery for breast cancer PIK3CA hotspot mutations.

Background: Recent advancements in high-throughput genomics and targeted therapies have provided tremendous potential to identify and therapeutically target distinct mutations associated with cancers. However, to date the majority of targeted therapies are used to treat all functional mutations within the same gene, regardless of affected codon or phenotype.

Results: In this study, we developed a functional genomic analysis workflow with a unique isogenic cell line panel bearing two distinct hotspot PIK3CA mutations, E545K and H1047R, to accurately identify targetable differences between mutations within the same gene.

An in vitro CRISPR screen of cell-free DNA identifies apoptosis as the primary mediator of cell-free DNA release.

Clinical circulating cell-free DNA (cfDNA) testing is now routine, however test accuracy remains limited. By understanding the life-cycle of cfDNA, we might identify opportunities to increase test performance. Here, we profile cfDNA release across a 24-cell line panel and utilize a cell-free CRISPR screen (cfCRISPR) to identify mediators of cfDNA release.

Genomic dissection and mutation-specific target discovery for breast cancer hotspot mutations.

Background: Recent advancements in high-throughput genomics and targeted therapies have provided tremendous potential to identify and therapeutically target distinct mutations associated with cancers. However, to date the majority of targeted therapies are used to treat all functional mutations within the same gene, regardless of affected codon or phenotype.

Results: In this study, we developed a functional genomic analysis workflow with a unique isogenic cell line panel bearing two distinct hotspot mutations, E545K and H1047R, to accurately identify targetable differences between mutations within the same gene.

Validity and Reliability of Thoracic-Mounted Inertial Measurement Units to Derive Gait Characteristics During Running.

Horsley, BJ, Tofari, PJ, Halson, SL, Kemp, JG, Chalkley, D, Cole, MH, Johnston, RD, and Cormack, SJ. Validity and reliability of thoracic-mounted inertial measurement units to derive gait characteristics during running. J Strength Cond Res 38(2): 274-282, 2024-Inertial measurement units (IMUs) attached to the tibia or lumbar spine can be used to analyze running gait but, with team-sports, are often contained in global navigation satellite system (GNSS) units worn on the thoracic spine.

Thoracic-Worn Accelerometers Detect Fatigue-Related Changes in Vertical Stiffness During Sprinting.

Horsley, BJ, Tofari, PJ, Halson, SL, Kemp, JG, Johnston, RD, and Cormack, SJ. Thoracic-worn accelerometers detect fatigue-related changes in vertical stiffness during sprinting. J Strength Cond Res 38(2): 283-289, 2024-Thoracic-mounted accelerometers are valid and reliable for analyzing gait characteristics and may provide the opportunity to assess running-related neuromuscular fatigue (NMF) during training and competition without the need for additional tests, such as a countermovement jump (CMJ).

Phosphorylated histone variant γH2Av is associated with chromatin insulators in Drosophila.

Chromatin insulators are responsible for orchestrating long-range interactions between enhancers and promoters throughout the genome and align with the boundaries of Topologically Associating Domains (TADs). Here, we demonstrate an association between gypsy insulator proteins and the phosphorylated histone variant H2Av (γH2Av), normally a marker of DNA double strand breaks. Gypsy insulator components colocalize with γH2Av throughout the genome, in polytene chromosomes and in diploid cells in which Chromatin IP data shows it is enriched at TAD boundaries.

Effect of Training/Competition Load and Scheduling on Sleep Characteristics in Professional Rugby League Athletes.

Conlan, G, McLean, B, Kemp, J, and Duffield, R. Effect of training/competition load and scheduling on sleep characteristics in professional rugby league athletes. J Strength Cond Res 36(12): 3390-3397, 2022-This study examined the effect of training/competition load, scheduling, and associated factors on sleep behavior in professional rugby league athletes.

Haematological responses to repeated sprints in hypoxia across different sporting modalities.

The aim was to determine the effects of repeated-sprint training in hypoxia on haematocrit and haemoglobin in different sporting modalities. Seventy-two participants were randomly allocated to Active-Repeated sprint in hypoxia (A-RSH, n= 8); Active-Repeated sprint in normoxia (A-RSN, n= 8); Active-Control (A-CON, n= 8); Team Sports-RSH (T-RSH, n= 8); Team Sports-RSN (T-RSN, n= 8); Team Sports-Control (T-CON, n= 8); Endurance-RSH (E-RSH, n= 8); Endurance-RSN (E-RSN, n= 8); Endurance-Control (E-CON, n= 8). Sessions consisted of two sets of five sprints of 10 swith recovery of 20 sbetween sprints and 10 min between sets.

Business Class Travel Preserves Sleep Quality and Quantity and Minimizes Jet Lag During the ICC Women's T20 World Cup.

Purpose: To determine the impact of the quality and quantity of sleep during an international flight on subsequent objective sleep characteristics, training and match-day load, self-reported well-being, and perceptions of jet lag of elite female cricketers during an International Cricket Council Women's T20 World Cup.

Methods: In-flight and tournament objective sleep characteristics of 11 elite female cricketers were assessed using activity monitors. Seated in business class, players traveled west from Melbourne, Australia, to Chennai, India.

Does Site Matter? Impact of Inertial Measurement Unit Placement on the Validity and Reliability of Stride Variables During Running: A Systematic Review and Meta-analysis.

Background: Inertial measurement units (IMUs) are used for running gait analysis in a variety of sports. These sensors have been attached at various locations to capture stride data. However, it is unclear if different placement sites affect the derived outcome measures.

A Complex Relationship: Sleep, External Training Load, and Well-Being in Elite Australian Footballers.

Purpose: To assess relationships between objective sleep characteristics, external training loads, and subjective ratings of well-being in elite Australian football (AF) players.

Methods: A total of 38 elite male AF players recorded objective sleep characteristics over a 15-day period using an activity monitor. External load was assessed during main field sessions, and ratings of well-being were provided each morning.

Life on the edge: Compensatory growth and feeding rates at environmental extremes mediates potential ecosystem engineering by an invasive bivalve.

Invasive non-native species (INNS) with marine or brackish origins have become increasingly common occupying freshwater habitats. The transition of INNS from marine or brackish water into physiologically stressful freshwater environments may be facilitated by compensatory growth and elevated feeding rates. In this study, we investigate the capacity of the Gulf wedge clam (Rangia cuneata), a brackish NNS that is spreading quickly across European waterways, to survive in freshwater conditions and consider its resultant impacts as an ecosystem engineer.

Blood Volumes Following Preseason Heat Versus Altitude: A Case Study of Australian Footballers.

Purpose: There is debate as to which environmental intervention produces the most benefit for team sport athletes, particularly comparing heat and altitude. This quasi-experimental study aimed to compare blood volume (BV) responses with heat and altitude training camps in Australian footballers.

Methods: The BV of 7 professional Australian footballers (91.

No Compromise of Competition Sleep Compared With Habitual Sleep in Elite Australian Footballers.

Purpose: To assess the impact of match-start time and days relative to match compared with the habitual sleep characteristics of elite Australian Football (AF) players.

Methods: 45 elite male AF players were assessed during the preseason (habitual) and across 4 home matches during the season. Players wore an activity monitor the night before (-1), night of (0), 1 night after (+1), and 2 nights (+2) after each match and completed a self-reported rating of sleep quality.

Self-Paced Team-Sport Match Simulation Results in Reductions in Voluntary Activation and Modifications to Biological, Perceptual, and Performance Measures at Halftime and for up to 96 Hours Postmatch.

Tofari, PJ, Kemp, JG, and Cormack, SJ. Self-paced team-sport match-simulation results in reductions in voluntary activation and modifications to biological, perceptual, and performance measures at halftime and for up to 96 hours postmatch. J Strength Cond Res 32(12): 3561-3572, 2018-Assessing responses to soccer match play is limited by match variability or unrealistic simulations.

Comparison of ergometer- and track-based testing in junior track-sprint cyclists. Implications for talent identification and development.

Talent identification (TID) and talent development (TDE) programmes in track sprint cycling use ergometer- and track-based tests to select junior athletes and assess their development. The purpose of this study was to assess which tests are best at monitoring TID and TDE. Ten male participants (16.

Reliability of measures of quadriceps muscle function using magnetic stimulation.

Introduction: Magnetic stimulation can be used to assess muscle function by calculating voluntary activation using an interpolated twitch during maximal voluntary contractions (MVCs) and control twitches to potentiated muscle. In this study we assessed the reliability of torque, electromyography (EMG), and voluntary activation variables.

Methods: Fifteen men completed 5 testing sessions (2 familiarization and 3 reliability trials) to assess quadriceps femoris muscle function.

Effects of a Multi-Disciplinary Lifestyle Intervention on Cardiometabolic Risk Factors in Young Women with Abdominal Obesity: A Randomised Controlled Trial.

Background: Young women are under-represented in cardiovascular disease research, with obesity and cardiometabolic risk factor interventions generally targeting older adults. Furthermore, appropriate study designs for young women remain uncertain. This study aimed to assess the impact of a 12 week multi-disciplinary lifestyle intervention on cardiometabolic risk factors in premenopausal women with abdominal obesity.

Young Women With Abdominal Obesity Have Subclinical Myocardial Dysfunction.

Background: Abdominal obesity is an independent risk factor for cardiovascular disease. The effect of abdominal obesity on myocardial function in young obese women remains unknown. Therefore, we aimed to investigate cardiac morphology and function, myocardial deformation, and mechanical indices, in young women with and without abdominal obesity.

Changes in Running Performance After Four Weeks of Interval Hypoxic Training in Australian Footballers: A Single-Blind Placebo-Controlled Study.

There is a paucity of data examining the impact of high-intensity interval hypoxic training (IHT) on intermittent running performance. This study assessed the effects of IHT on 17 amateur Australian Footballers, who completed 8 interval treadmill running sessions (IHT [FIO2 = 15.1%] or PLACEBO) over 4 weeks, in addition to normoxic football (2 per week) and resistance (2 per week) training sessions.

A self-paced intermittent protocol on a non-motorised treadmill: a reliable alternative to assessing team-sport running performance.

This study assessed the reliability of a 'self-paced' 30-min, team-sport running protocol on a Woodway Curve 3.0 non-motorised treadmill (NMT). Ten male team-sport athletes (20.

Lower limb kinematics and physiological responses to prolonged load carriage in untrained individuals.

The aim of this study was to simultaneously assess the changes in physiology, and kinematic and spatiotemporal features of gait, during prolonged load carriage in individuals without load carriage experience. Eleven males, representative of new military recruits, walked for 120 min at 5.5 km h(- 1), 0% grade, on a motorised treadmill while carrying a 22 kg load.

Musculoskeletal stiffness during hopping and running does not change following downhill backwards walking.

Eccentric contractions that provide spring energy can also cause muscle damage. The aim of this study was to explore leg and vertical stiffness following muscle damage induced by an eccentric exercise protocol. Twenty active males completed 60 minutes of backward-walking on a treadmill at 0.

Application of 'live low-train high' for enhancing normoxic exercise performance in team sport athletes.

Background And Objective: Hypoxic training techniques are increasingly used by athletes in an attempt to improve performance in normoxic environments. The 'live low-train high (LLTH)' model of hypoxic training may be of particular interest to athletes because LLTH protocols generally involve shorter hypoxic exposures (approximately two to five sessions per week of <3 h) than other traditional hypoxic training techniques (e.g.

Year-to-year variability in haemoglobin mass response to two altitude training camps.

Aim: To quantify the year-to-year variability of altitude-induced changes in haemoglobin mass (Hb(mass)) in elite team-sport athletes.

Methods: 12 Australian-Footballers completed a 19-day (ALT1) and 18-day (ALT2) moderate altitude (∼2100 m), training camp separated by 12 months. An additional 20 participants completed only one of the two training camps (ALT1 additional n=9, ALT2 additional n=11).