Mike Loosemore

Efficacy of personal symptom and family history questionnaires when screening for inherited cardiac pathologies: the role of electrocardiography

Aims: This study sought to confirm the efficacy of using resting 12-lead ECG alongside personal symptom and family history questionnaires and physical examination when screening for diseases with the potential to cause sudden cardiac death in the young. Methods and results: 1074 national and international junior athletes (mean age 15.8 (SD 0.7) years, range 10 to 27) and 1646 physically active schoolchildren (16.1 (SD 2.1) years, range 14 to 20) were screened using personal and family history questionnaires, physical examination and resting 12-lead ECG. Nine participants with a positive diagnosis of a disease associated with sudden cardiac death were identified. None of the participants diagnosed with a disease associated with sudden cardiac death were symptomatic or had a family history of note. Conclusion : Family history and personal symptom questionnaires alone are inadequate to identify people with diseases associated with sudden cardiac death. Use of the 12-lead ECG is essential when screening for cardiac pathology in the young.

The ACE gene and human performance: 12 years on.

Some 12 years ago, a polymorphism of the angiotensin I-converting enzyme (ACE) gene became the first genetic element shown to impact substantially on human physical performance. The renin-angiotensin system (RAS) exists not just as an endocrine regulator, but also within local tissue and cells, where it serves a variety of functions. Functional genetic polymorphic variants have been identified for most components of RAS, of which the best known and studied is a polymorphism of the ACE gene. The ACE insertion/deletion (I/D) polymorphism has been associated with improvements in performance and exercise duration in a variety of populations. The I allele has been consistently demonstrated to be associated with endurance-orientated events, notably, in triathlons. Meanwhile, the D allele is associated with strength- and power-orientated performance, and has been found in significant excess among elite swimmers. Exceptions to these associations do exist, and are discussed.In theory, associations with ACE genotype may be due to functional variants in nearby loci, and/or related genetic polymorphism such as the angiotensin receptor, growth hormone and bradykinin genes. Studies of growth hormone gene variants have not shown significant associations with performance in studies involving both triathletes and military recruits. The angiotensin type-1 receptor has two functional polymorphisms that have not been shown to be associated with performance, although studies of hypoxic ascent have yielded conflicting results. ACE genotype influences bradykinin levels, and a common gene variant in the bradykinin 2 receptor exists. The high kinin activity haplotye has been associated with increased endurance performance at an Olympic level, and similar results of metabolic efficiency have been demonstrated in triathletes.Whilst the ACE genotype is associated with overall performance ability, at a single organ level, the ACE genotype and related polymorphism have significant associations. In cardiac muscle, ACE genotype has associations with left ventricular mass changes in response to stimulus, in both the health and diseased states. The D allele is associated with an exaggerated response to training, and the I allele with the lowest cardiac growth response. In light of the I-allele association with endurance performance, it seems likely that other regulatory mechanisms exist. Similarly in skeletal muscle, the D allele is associated with greater strength gains in response to training, in both healthy individuals and chronic disease states. As in overall performance, those genetic polymorphisms related to the ACE genotype, such as the bradykinin 2 gene, also influence skeletal muscle strength.Finally, the ACE genotype may influence metabolic efficiency, and elite mountaineers have demonstrated an excess of I alleles and I/I genotype frequency in comparison to controls. Interestingly, this was not seen in amateur climbers. Corroboratory evidence exists among high-altitude settlements in both South America and India, where the I allele exists in greater frequency in those who migrated from the lowlands. Unfortunately, if the ACE genotype does influence metabolic efficiency, associations with peak maximal oxygen consumption have yet to be rigorously demonstrated.The ACE genotype is an important but single factor in the determinant of sporting phenotype. Much of the mechanisms underlying this remain unexplored despite 12 years of research.

Genetic Influences in Sport and Physical Performance

The common inheritance of approximately 20 000 genes defines each of us as human. However, substantial variation exists between individual human genomes, including ‘replication’ of gene sequences (copy number variation, tandem repeats), or changes in individual base pairs (mutations if <1% frequency and single nucleotide polymorphisms if >1% frequency). A vast array of human phenotypes (e.g. muscle strength, skeletal structure, tendon elasticity, and heart and lung size) influences sports performance, each itself the result of a complex interaction between a myriad of anatomical, biochemical and physiological systems. This article discusses the role for genetic influences in influencing sporting performance and injury, offering specific exemplars where these are known. Many of these preferable genotypes are uncommon, and their combination even rarer. In theory, the chances of an individual having a perfect sporting genotype are much lower than 1 in 20 million — as the number of associated polymorphisms increase, the odds decrease correspondingly. Many recently discovered polymorphisms that may affect sports performance have been described in animal or other human based models, and have been included in this review if they may apply to athletic populations. Muscle performance is heavily influenced by basal muscle mass and its dynamic response to training. Genetic factors account for approximately 5080%of inter-individual variation in lean body mass, with impacts detected on both training-naive’ muscle mass and its growth response. Several cytokines such as interleukin-6 and -15, cilliary neurotrophic factor and insulin-like growth factor (IGF) have myoanabolic effects. Genotype-associated differences in endocrine function, necessary for normal skeletal muscle growth and function, may also be of significance, with complex interactions existing between thyroxine, growth hormone and the downstream regulators of the anabolic pathways (such as IGF-1 and IGF-2). Almost 200 polymorphisms are known to exist in the vitamin D receptor (VDR) gene. VDR genotype is associated with differences in strength in premenopausal women. VDR expression decreases with age and VDR genotype is associated with fatfree mass and strength in elderly men and women. Muscle fibre type determination is complex. Whilst initial composition is likely to be strongly influenced by genetic factors, training has significant effects on fibre shifts. Polymorphisms of the peroxisome proliferator-activated receptor a (PPARa) gene and R577x polymorphism of the ACTN3 gene are both associated with specific fibre compositions. Alterations in cardiac size have been associated with both increased performance and excess cardiovascular mortality. PPARa is a ligand-activated transcription factor that regulates genes involved in fatty acid uptake and oxidation, lipid metabolism and inflammation. Psychology plays an important role in training, competition, tolerance of pain and motivation. However, the role of genetic variation in determining psychological state and responses remains poorly understood; only recently have specific genes been implicated in motivational behaviour and maintenance of exercise. Thyroid hormone receptors exist within the brain and influence both neurogenesis and behaviour. With the current state of knowledge, the field of genetic influences on sports performance remains in its infancy, despite over a decade of research.

Bone structure and geometry in young men: the influence of smoking, alcohol intake and physical activity.

BACKGROUND The development of osteoporosis is influenced by peak bone mass attained in youth - the influence of lifestyle factors upon which is poorly described, especially amongst males. We sought to address this issue in a large scale study. METHODS Hip bone mineral density (dual X-ray absorptiometry, DXA), bone microarchitecture (calcaneal quantitative ultrasound, QUS) and femoral geometry (magnetic resonance imaging, MRI) were characterised in 723 healthy male military recruits (mean ± S.E. age 19.92 ± 0.09 years [range 16-18 years], height 177.67 ± 0.24 cm, weight 73.17 ± 0.37 kg) on entry to UK Army training. Association was sought with prior physical activity, smoking status and alcohol intake. RESULTS DXA measures were made in 651, MRI measures in 650, and QUS measures in 572 recruits. Increasing levels of weight-bearing physical activity enhanced periostial bone apposition, increases in both total hip and femoral neck bone mineral density (BMD; p ≤ 0.0001 in both cases), and cortical [p<0.0001] and periostial bone volumes [p=0.016]. Smoking habit was associated with preserved bone geometry, but worse BMD [p=0.0001] and QUS characteristics [p ≤ 0.0005]. Moderate alcohol consumption was associated with greater BMD [p ≤ 0.015]. CONCLUSIONS Whilst exercise (and perhaps moderate alcohol intake) is beneficial to bone morphometry, smoking is detrimental to bone mineral density in young males notable for the likely short duration of smoking to influence skeletal properties. However, differences in socio-economic status, lifestyle and related environmental factors may to some extent confound our results.

The Sport Concussion Assessment Tool 5th Edition (SCAT5): Background and rationale

This paper presents the Sport Concussion Assessment Tool 5th Edition (SCAT5), which is the most recent revision of a sport concussion evaluation tool for use by healthcare professionals in the acute evaluation of suspected concussion. The revision of the SCAT3 (first published in 2013) culminated in the SCAT5. The revision was based on a systematic review and synthesis of current research, public input and expert panel review as part of the 5th International Consensus Conference on Concussion in Sport held in Berlin in 2016. The SCAT5 is intended for use in those who are 13 years of age or older. The Child SCAT5 is a tool for those aged 5–12 years, which is discussed elsewhere.

What are the critical elements of sideline screening that can be used to establish the diagnosis of concussion? A systematic review

Background Sideline detection is the first and most significant step in recognising a potential concussion and removing an athlete from harm. This systematic review aims to evaluate the critical elements aiding sideline recognition of potential concussions including screening tools, technologies and integrated assessment protocols. Data sources Bibliographic databases, grey literature repositories and relevant websites were searched from 1 January 2000 to 30 September 2016. A total of 3562 articles were identified. Study selection Original research studies evaluating a sideline tool, technology or protocol for sports-related concussion were eligible, of which 27 studies were included. Data extraction A standardised form was used to record information. The QUADAS-2 and Newcastle-Ottawa tools were used to rate risk of bias. Strength of evidence was assessed using the Grades of Recommendation, Assessment, Development and Evaluation Working Group system. Data synthesis Studies assessing symptoms, the King-Devick test and multimodal assessments reported high sensitivity and specificity. Evaluations of balance and cognitive tests described lower sensitivity but higher specificity. However, these studies were at high risk of bias and the overall strength of evidence examining sideline screening tools was very low. A strong body of evidence demonstrated that head impact sensors did not provide useful sideline concussion information. Low-strength evidence suggested a multimodal, multitime-based concussion evaluation process incorporating video review was important in the recognition of significant head impact events and delayed onset concussion. Conclusion In the absence of definitive evidence confirming the diagnostic accuracy of sideline screening tests, consensus-derived multimodal assessment tools, such as the Sports Concussion Assessment Tool, are recommended. Sideline video review may improve recognition and removal from play of athletes who have sustained significant head impact events. Current evidence does not support the use of impact sensor systems for real-time concussion identification.

Oral health and elite sport performance

While the research base is limited, studies have consistently reported poor oral health in elite athletes since the first report from the 1968 Olympic Games. The finding is consistent both across selected samples attending dental clinics at major competitions and more representative sampling of teams and has led to calls from the International Olympic Committee for more accurate data on oral health. Poor oral health is an important issue directly as it can cause pain, negative effects on appearance and psychosocial effects on confidence and quality of life and may have long-term consequences for treatment burden. Self-reported evidence also suggests an impact on training and performance of athletes. There are many potential challenges to the oral health of athletes including nutritional, oral dehydration, exercise-induced immune suppression, lack of awareness, negative health behaviours and lack of prioritisation. However, in theory, oral diseases are preventable by simple interventions with good evidence of efficacy. The consensus statement aims to raise awareness of the issues of oral health in elite sport and recommends strategies for prevention and health promotion in addition to future research strategies.

Amateur boxing in the last 59 years. Impact of rules changes on the type of verdicts recorded and implications on boxers’ health

Background/aim Several changes have occurred in Olympic boxing (OB) in the last few decades, influencing the results in official competitions. The aim of this study was to assess how the evolution of rules changed the rate of the results that can influence boxers’ health. Methods From a web-research, the results of OB tournaments from 1952 to 2011 were reviewed (29 357 bouts). For each event, rate of knockout (KO), referee-stop contest (RSC), RSC-Head (RSCH), RSC-Injury (RSCI), RSC-Outclassed (RSCO), abandon, disqualification and points decisions were recorded. In our analysis we investigated the changes that occurred after the introduction of the standing-count rule (1964), mandatory head guard (1984), computerised scoring system (1992), RSCO (2000–2009) and modification of bout formula 3×3 min rounds (3×3, until 1997, 5×2 min rounds (5×2) until 1999, 4×2 min rounds (4×2) until 2008, 3×3 from 2009). Results The most important results were: (1) an RSCI rate increase (0.72–2.42%, p<0.03) after the standing-count rule; (2) a lower RSCI (0.60%, p<0.001) and higher RSCH (1.31–4.92%, p<0.001) and RSC (9.71–13.05%, p<0.03) rate with mandatory head guard; (3) a KO rate reduction (6.44–2.09%, p<0.001) with the computerised scoring system; (4) an RSC (13.15–5.91%, p<0.05) and RSCH (4.23–1.41%, p<0.001) rate reduction comparing 5×2–4×2 bouts. Conclusions In the last six decades, along with rule changes in OB, a clear reduction of health challenging results was observed. In the near future, older rules will be adopted (no head guard and a manual scoring system). Continued medical surveillance is important to ensure that new rule changes do not result in poor medical outcomes for the boxers.

Impact of ethnicity, gender, and dehydration on the urinary excretion of inhaled salbutamol with respect to doping control.

Objective:To examine the impact of dehydration, ethnicity, and gender on urinary concentrations of salbutamol in relation to the threshold stipulated by the World Anti-Doping Agency (WADA). Design:Repeated measures open-label. Participants:Eighteen male and 14 female athletes (9 white males, 9 white females, 2 Afro-Caribbean males, 2 Afro-Caribbean females, 6 Asian [Indian subcontinent] males, and 4 Asian females) were recruited. All participants were nonasthmatic. Interventions:After inhalation of 800 &mgr;g or 1600 &mgr;g of salbutamol, athletes exercised in a hot controlled environment (35°C, 40% relative humidity) at a self-selected pace until a target weight loss (2% or 5%) was achieved. Main Outcome Measures:Urine concentration of free salbutamol. Results:After inhalation of 1600 &mgr;g salbutamol, 20 participants presented with a urine salbutamol concentrations above the current WADA limit (1000 ng/mL) and decision limit (1200 ng/mL) resulting in an adverse analytical finding. There were no differences according to gender or ethnic origin. Conclusions:Dehydration equivalent to a body mass loss greater than 2% concomitant to the acute inhalation of 1600 &mgr;g of salbutamol may result in a urine concentration above the current WADA limit and decision limit leading to a positive test finding independent of gender or ethnic origin. Clinical Relevance:Asthmatic athletes using salbutamol should receive clear dosing advise and education to minimize the risk of inhaling doses of salbutamol that may produce urine concentrations of salbutamol above 1200 ng/mL.

The Concussion Recognition Tool 5th Edition (CRT5): Background and rationale

The Concussion Recognition Tool 5 (CRT5) is the most recent revision of the Pocket Sport Concussion Assessment Tool 2 that was initially introduced by the Concussion in Sport Group in 2005. The CRT5 is designed to assist non-medically trained individuals to recognise the signs and symptoms of possible sport-related concussion and provides guidance for removing an athlete from play/sport and to seek medical attention. This paper presents the development of the CRT5 and highlights the differences between the CRT5 and prior versions of the instrument.