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Sports genetics

Krzysztof Karpowicz, Katarzyna Krych, Małgorzata Karpowicz, Witold Nowak, Piotr Gronek
The map of candidate genes that can potentially affect physical fitness becomes larger every year, and they are associated with such aspects as respiratory and cardiovascular stability; body build and composition - especially muscle mass and strength; carbohydrate and lipid metabolism; response to training; and exercise intolerance.The aim of this study was to analyze the relationship between the CA repeat polymorphism of the P1 promoter of the IGF1 gene and the structure of motor skills in the two groups of Polish young athletes in 2011-2013...
March 15, 2018: Acta Biochimica Polonica
Ronald J Maughan, Louise M Burke, Jiri Dvorak, D Enette Larson-Meyer, Peter Peeling, Stuart M Phillips, Eric S Rawson, Neil P Walsh, Ina Garthe, Hans Geyer, Romain Meeusen, Lucas J C van Loon, Susan M Shirreffs, Lawrence L Spriet, Mark Stuart, Alan Vernec, Kevin Currell, Vidya M Ali, Richard Gm Budgett, Arne Ljungqvist, Margo Mountjoy, Yannis P Pitsiladis, Torbjørn Soligard, Uğur Erdener, Lars Engebretsen
Nutrition usually makes a small but potentially valuable contribution to successful performance in elite athletes, and dietary supplements can make a minor contribution to this nutrition programme. Nonetheless, supplement use is widespread at all levels of sport. Products described as supplements target different issues, including (1) the management of micronutrient deficiencies, (2) supply of convenient forms of energy and macronutrients, and (3) provision of direct benefits to performance or (4) indirect benefits such as supporting intense training regimens...
March 14, 2018: British Journal of Sports Medicine
Stuart K Kim, John P A Ioannidis, Marwa A Ahmed, Andrew L Avins, John P Kleimeyer, Michael Fredericson, Jason L Dragoo
Plantar fascial disorder is comprised of plantar fasciitis and plantar fibromatosis. Plantar fasciitis is the most common cause of heel pain, especially for athletes involved in running and jumping sports. Plantar fibromatosis is a rare fibrous hyperproliferation of the deep connective tissue of the foot. To identify genetic loci associated with plantar fascial disorders, a genome-wide association screen was performed using publically available data from the Research Program in Genes, Environment and Health including 21,624 cases of plantar fascial disorders and 80,879 controls...
March 13, 2018: International Journal of Sports Medicine
Gourg Atteya, Rachel Lampert
Exercise and sports are an integral part of daily life for millions of Americans, with 16% of the US population older than age 15 years engaged in sports or exercise activities (Bureau of Labor statistics). The physical and psychological benefits of exercise are well-recognized. However, high-profile cases of athletes dying suddenly on the field, often due to undiagnosed genetic cardiomyopathies, raise questions about the risks and benefits of exercise for those with cardiomyopathy.
April 2018: Heart Failure Clinics
I Trofimova, T W Robbins, W H Sulis, J Uher
This Editorial highlights a unique focus of this theme issue on the biological perspectives in deriving psychological taxonomies coming from neurochemistry, neuroanatomy, neurophysiology, genetics, psychiatry, developmental and comparative psychology-as contrasted to more common discussions of socio-cultural concepts (personality) and methods (lexical approach). It points out the importance of the distinction between temperament and personality for studies in human and animal differential psychophysiology, psychiatry and psycho-pharmacology, sport and animal practices during the past century...
April 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
Chunyang Chen, Yan Sun, Hao Liang, Dan Yu, Songnian Hu
The muscle-specific creatine kinase (CKM) A/G variants (rs8111989) have been associated with skeletal muscle performance in humans; they are correlated with physical performance and contribute to differences in the maximum oxygen uptake (VO2 max) responses during power or endurance training. However, there is not enough definitive evidence to demonstrate whether the A and G allelic variants of the CKM gene rs8111989 are indeed genetic factors that can influence human physical performance. In our study, we identified 9 articles on CKM in a literature search, and conducted two meta-analyses on the CKM rs8111989 A/G allele or genotype differences between power or endurance athletes and general controls...
December 2017: Biology of Sport
Carissa Bonner, Catherine Spinks, Christopher Semsarian, Alex Barratt, Jodie Ingles, Kirsten McCaffery
Families with a history of hypertrophic cardiomyopathy (HCM) may be offered genetic testing in addition to clinical surveillance. Asymptomatic family members who are gene positive (silent gene carriers) represent a new group of "patients" who may not develop HCM, with little evidence available to assist clinical management. This study explored experiences of HCM genetic testing to identify potential benefits and harms. Thirty-two individuals previously offered genetic testing for HCM were recruited...
February 22, 2018: Journal of Genetic Counseling
Iris Aparecida Soares, Víctor Salinas, Omar Del Ponti, Miguel Alberto Mancini, José Luis Luque
Parasitic copepods of the family Lernaeidae are often found infesting freshwater fishes worldwide. They cause lernaeosis, a disease that can lead to serious pathogenic effects on their fish hosts. The most common lernaeid is the Lernaea cyprinacea, which has been widely introduced through importation of tropical fishes, e.g. cyprinids. In South America, it is one of the most common parasites both in wild and in farmed fish in the central region of Argentina. The silverside Odontesthes bonariensis is the most important fish of the sport fisheries of Argentina and one of the fish most affected by lernaeosis...
February 19, 2018: Revista Brasileira de Parasitologia Veterinária, Brazilian Journal of Veterinary Parasitology
Peter H Sönksen, Richard I G Holt, Walailuck Böhning, Nishan Guha, David A Cowan, Christiaan Bartlett, Dankmar Böhning
Background: Endocrine profiles have been measured on blood samples obtained immediately post-competition from 693 elite athletes from 15 Olympic Sports competing at National or International level; four were subsequently excluded leaving 689 for the current analysis. Methods: Body composition was measured by bioimpedance in a sub-set of 234 (146 men and 88 women) and from these data a regression model was constructed that enabled 'estimated' lean body mass and fat mass to be calculated on all athletes...
2018: Clinical Diabetes and Endocrinology
Helen Anwander, Martin Beck, Lorenz Büchler
Anatomy and biomechanics of the human hip joint are a consequence of the evolution of permanent bipedal gait. Habitat and behaviour have an impact on hip morphology and significant differences are present even within the same biological family. The forces acting upon the hip joint are mainly a function of gravitation and strength of the muscles. Acetabular and femoral anatomy ensure an inherently stable hip with a wide range of motion. The femoral head in first human ancestors with upright gait was spherical (coxa rotunda)...
February 5, 2018: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
Michał Ginszt, Małgorzata Michalak-Wojnowska, Piotr Gawda, Magdalena Wojcierowska-Litwin, Iwona Korszeń-Pilecka, Małgorzata Kusztelak, Rafał Muda, Agata A Filip, Piotr Majcher
The functional RR genotype of the alpha-actinin-3 (ACTN3) gene has been reported to be associated with elite sprint/power athlete status. Although large and rapidly increasing number of studies have investigated the associations between the ACTN3 genotypes and athletic performance in various sport disciplines, there is a lack of studies on the genetic predisposition in Sport Climbing, which was selected to be part of the next Summer Olympic Games in Tokyo 2020 with three subdisciplines ('Lead Climbing', 'Speed Climbing' and 'Bouldering')...
February 1, 2018: Journal of Strength and Conditioning Research
Ian R Tofler, Brandon M Hyatt, David S Tofler
Extreme sports, defined as sporting or adventure activities involving a high degree of risk, have boomed since the 1990s. These types of sports attract men and women who can experience a life-affirming transcendence or "flow" as they participate in dangerous activities. Extreme sports also may attract people with a genetic predisposition for risk, risk-seeking personality traits, or underlying psychiatric disorders in which impulsivity and risk taking are integral to the underlying problem. In this report, we attempt to illustrate through case histories the motivations that lead people to repeatedly risk their lives and explore psychiatry's role in extreme sports...
2018: Permanente Journal
Timothy J Suchomel, Sophia Nimphius, Christopher R Bellon, Michael H Stone
This review covers underlying physiological characteristics and training considerations that may affect muscular strength including improving maximal force expression and time-limited force expression. Strength is underpinned by a combination of morphological and neural factors including muscle cross-sectional area and architecture, musculotendinous stiffness, motor unit recruitment, rate coding, motor unit synchronization, and neuromuscular inhibition. Although single- and multi-targeted block periodization models may produce the greatest strength-power benefits, concepts within each model must be considered within the limitations of the sport, athletes, and schedules...
January 25, 2018: Sports Medicine
E Bartolomé, A Menéndez-Buxadera, A Molina, M Valera
To obtain a sport horse that excels in the highest levels of competition, breeders must take into account certain genetic and environmental factors that could influence the sport horse's performance, such as the rider-horse interaction (RHI). The main aim of this study was to describe this interaction in a genetic model by modelling it in relation to the horse's age. A total of 31,129 sport results from Spanish Sport Horses were used from a total of 1,101 animals evaluated, and these were grouped in three age levels and had been ridden by 606 different riders...
January 23, 2018: Journal of Animal Breeding and Genetics, Zeitschrift Für Tierzüchtung und Züchtungsbiologie
L Putnová, R Štohl, I Vrtková
We propose the first comprehensive in-depth study monitoring horses in the Czech Republic. We scanned 9,289 animals from 44 populations for 17 equine STRs. Other equids analysed involved Equus przewalskii and Equus asinus. The total of 228 different alleles were detected, with the mean number of 13.4 per locus. The highest allelic richness (AR) was found in the Welsh Part Bred (6.01), followed by the Camargue (5.93) and Czech Sport Pony (5.91), whereas the Friesian exhibited the lowest AR (3.06). Interpopulation differences explained approximately nine per cent of the total genetic diversity...
February 2018: Journal of Animal Breeding and Genetics, Zeitschrift Für Tierzüchtung und Züchtungsbiologie
E van Wensen, B P van de Warrenburg
BACKGROUND: Although the yips occurs commonly in golfers, this neurological movement disorder is a relatively unknown phenomenon among physicians. CASE DESCRIPTION: A 47-year-old golf player developed a disturbing, neurological movement disorder that manifested when playing golf: the yips. These jerks occurred when putting, but not during practice rounds. The patient's father suffered from similar yips. CONCLUSION: The yips is a task-specific dystonia, which can also manifest in players of other sports...
2018: Nederlands Tijdschrift Voor Geneeskunde
Umile Giuseppe Longo, Mario Ronga, Nicola Maffulli
Achilles tendinopathy is a common cause of disability. Despite the economic and social relevance of the problem, the causes and mechanisms of Achilles tendinopathy remain unclear. Tendon vascularity, gastrocnemius-soleus dysfunction, age, sex, body weight and height, pes cavus, and lateral ankle instability are considered common intrinsic factors. The essence of Achilles tendinopathy is a failed healing response, with haphazard proliferation of tenocytes, some evidence of degeneration in tendon cells and disruption of collagen fibers, and subsequent increase in noncollagenous matrix...
March 2018: Sports Medicine and Arthroscopy Review
Charles R Pedlar, Carlo Brugnara, Georgie Bruinvels, Richard Burden
Maintaining a positive iron balance is essential for female athletes to avoid the effects of iron deficiency and anaemia and to maintain or improve performance. A major function of iron is in the production of the oxygen and carbon dioxide carrying molecule, haemoglobin, via erythropoiesis. Iron balance is under the control of a number of factors including the peptide hormone hepcidin, dietary iron intake and absorption, environmental stressors (e.g. altitude), exercise, menstrual blood loss and genetics. Menstruating females, particularly those with heavy menstrual bleeding are at an elevated risk of iron deficiency...
March 2018: European Journal of Sport Science
T Y He, N Zhang, Y Xia, Y Luo, C R Li, J Yang
Objective: To investigate the clinical features and genetic characteristics of cases with NBAS gene defects. Method: Characteristics of clinical materials, immunological data and gene mutation of the first case in China with NBAS gene mutation were retrospectively analyzed. The related literature was searched by using search terms'NBAS'. Result: A 2-year-four-month old girl, was admitted due to 'fever and pallor for one day'. There was an intrauterine growth retardation at her fetal stage. Since her birth, she had suffered from recurrent infections and development delay was accompanied by persistent liver dysfunction...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
P A Karthick, Diptasree Maitra Ghosh, S Ramakrishnan
BACKGROUND AND OBJECTIVE: Surface electromyography (sEMG) based muscle fatigue research is widely preferred in sports science and occupational/rehabilitation studies due to its noninvasiveness. However, these signals are complex, multicomponent and highly nonstationary with large inter-subject variations, particularly during dynamic contractions. Hence, time-frequency based machine learning methodologies can improve the design of automated system for these signals. METHODS: In this work, the analysis based on high-resolution time-frequency methods, namely, Stockwell transform (S-transform), B-distribution (BD) and extended modified B-distribution (EMBD) are proposed to differentiate the dynamic muscle nonfatigue and fatigue conditions...
February 2018: Computer Methods and Programs in Biomedicine
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