No abstract

The Berlin statement on sport-related concussion was published in 2017 using evidence-based recommendations. We aimed to examine (1) the implementation of, distribution and education based on the Berlin recommendations, and the development of sport-specific protocols/guidelines among professional and elite sports, (2) the implementation of guidelines at the community level, (3) translation of guidelines into different languages, and (4) research activities. Senior medical advisers and chief medical officers from Australian Football League, All Japan Judo Federation, British Horseracing Authority, Cricket Australia, Fédération Equestre Internationale, Football Association, Gaelic Athletic Association, International Boxing Association, Irish Horseracing Regulatory Board, Major League Baseball, National Football League, National Hockey League, National Rugby League, and World Rugby completed a questionnaire. The results demonstrated that all 14 sporting organizations have published concussion protocols/guidelines based on the Berlin recommendations, including Recognize, Removal from play, Re-evaluation, Rest, Recovery, and Return to play. There is variable inclusion of Prolonged symptoms. Prevention and Risk reduction and Long-term effects are addressed in the guidelines, rules and regulations, and/or sport-specific research. There is variability in education programs, monitoring compliance with guidelines, and publication in other languages. All sporting bodies are actively involved in concussion research. We conclude that the Berlin recommendations have been included in concussion protocols/guidelines by all the sporting bodies, with consistency in the essential components of the recommendations, whilst also allowing for sport- and regional-specific variations. Education at the elite, community, and junior levels remains an ongoing challenge, and future iterations of guidelines may consider multiple language versions, and community- and junior-level guidelines.

Kiely, M, Warrington, GD, McGoldrick, A, Pugh, J, and Cullen, S. Physiological demands of professional flat and jump horse racing. J Strength Cond Res 34(8): 2173–2177, 2020—No information is currently available on the effect of race distance on the physiological demands of jockeys. This study aimed to quantify the respective demands of short and long flat and jump race distances. Twenty professional jockeys (10 flat and 10 jump) participated in the study. The subjects initially performed a graded incremental exercise test to volitional exhaustion on a treadmill to determine the peak heart rate (HR) and blood lactate concentrations. Two competitive races (short and long) were then monitored on 2 separate occasions for each jockey type to obtain hydration, HR, blood lactate concentration, and rating of perceived exertion data. Mean distances for the 4 races were: 1,247.2 ± 184.7 m (short flat race), 2,313.4 ± 142.2 m (long flat race), 3,480.2 ± 355.3 m (short jump race), and 4,546.4 ± 194.3 m (long jump race). The mean HR for the long flat race was 151 ± 19 b·min−1 (79 ± 11% of HRpeak), which was significantly lower than all other race distances (p = 0.000, effect size [ES] = 0.469). A longer jump race resulted in a significantly higher reported rate of perceived exertion (RPE) (14 ± 2.8) than the short jump race (11.0 ± 1.5) (p = 0.009, ES = 0.271), whereas no significant difference was revealed between peak HR responses or blood lactate concentrations when comparing other race distances (p < 0.05). The finding of this study supports previous limited research, which suggests that horse racing is a high-intensity sport, whereas RPE and mean HR fluctuate according to the race distance.

IMPORTANCE Wide use of genomic sequencing to diagnose disease has raised concern about the extent of genotype-phenotype correlations.OBJECTIVE To correlate disease-associated allele frequencies with expected and reported prevalence of clinical disease. DESIGN, SETTING, AND PARTICIPANTS Xeroderma pigmentosum (XP), a recessive, cancer-prone, neurocutaneous disorder, was used as a model for this study. From January 1, 2017, to May 4, 2018, the Human Gene Mutation Database and a cohort of patients at the National Institutes of Health were searched and screened to identify reported mutations associated with XP. The clinical phenotype of these patients was confirmed from reports in the literature and National Institutes of Health medical records. The genetically predicted prevalence of disease based on frequency of known pathogenic mutations was compared with the prevalence of patients clinically diagnosed with phenotypic XP. Exome sequencing of more than 200 000 alleles from the Genome Aggregation Database, the National Cancer Institute Division of Cancer Epidemiology and Genetics database of healthy controls, and an Inova Hospital Study database was used to investigate the frequencies of these mutations in the general population. MAIN OUTCOMES AND MEASURESListing of all reported mutations associated with XP, their frequencies in 3 large exome sequence databases, determination of the number of patients in the United States with XP using modeling equations, and comparison of the observed and reported numbers of patients with XP with specific mutations.RESULTS A total of 156 pathogenic missense and nonsense mutations associated with XP were identified in the National Institutes of Health cohort and the Human Gene Mutation Database. The Genome Aggregation Database provided frequency data for 65 of these mutations, with a total allele frequency of 1.13%. The XPF (ERCC4) mutation, p.P379S, had an allele frequency of 0.4%, and the XPC mutation, p.P334H, had an allele frequency of 0.3%. With the Hardy-Weinberg equation, it was determined that there should be more than 8000 patients who are homozygous for these mutations in the United States. In contrast, only 3 patients with XP were reported as having the XPF mutation, and 1 patient was reported as having the XPC mutation. CONCLUSIONS AND RELEVANCEThe findings from this study suggest that clinicians should approach large genomic databases with caution when trying to correlate the clinical implications of genetic variants with the prevalence of disease risk. Unsuspected mutations in known genes with a predisposition for skin cancer may be responsible for some of the high frequency of skin cancers in the general population.