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https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#1
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27903671/sports-related-lung-injury-during-breath-hold-diving
#2
Tanja Mijacika, Zeljko Dujic
The number of people practising recreational breath-hold diving is constantly growing, thereby increasing the need for knowledge of the acute and chronic effects such a sport could have on the health of participants. Breath-hold diving is potentially dangerous, mainly because of associated extreme environmental factors such as increased hydrostatic pressure, hypoxia, hypercapnia, hypothermia and strenuous exercise.In this article we focus on the effects of breath-hold diving on pulmonary function. Respiratory symptoms have been reported in almost 25% of breath-hold divers after repetitive diving sessions...
December 2016: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/27900193/exertional-rhabdomyolysis-physiological-response-or-manifestation-of-an-underlying-myopathy
#3
Renata S Scalco, Marc Snoeck, Ros Quinlivan, Susan Treves, Pascal Laforét, Heinz Jungbluth, Nicol C Voermans
Exertional rhabdomyolysis is characterised by muscle breakdown associated with strenuous exercise or normal exercise under extreme circumstances. Key features are severe muscle pain and sudden transient elevation of serum creatine kinase (CK) levels with or without associated myoglobinuria. Mild cases may remain unnoticed or undiagnosed. Exertional rhabdomyolysis is well described among athletes and military personnel, but may occur in anybody exposed to unaccustomed exercise. In contrast, exertional rhabdomyolysis may be the first manifestation of a genetic muscle disease that lowers the exercise threshold for developing muscle breakdown...
2016: BMJ Open Sport & Exercise Medicine
https://www.readbyqxmd.com/read/27899345/ethics-of-genetic-testing-and-research-in-sport-a-position-statement-from-the-australian-institute-of-sport
#4
Nicole Vlahovich, Peter A Fricker, Matthew A Brown, David Hughes
As Australia's peak high-performance sport agency, the Australian Institute of Sport (AIS) has developed this position statement to address the implications of recent advances in the field of genetics and the ramifications for the health and well-being of athletes. Genetic testing has proven of value in the practice of clinical medicine. There are, however, currently no scientific grounds for the use of genetic testing for athletic performance improvement, sport selection or talent identification. Athletes and coaches should be discouraged from using direct-to-consumer genetic testing because of its lack of validation and replicability and the lack of involvement of a medical practitioner in the process...
November 29, 2016: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/27873371/getting-a-sporting-chance-title-ix-and-the-intergenerational-transmission-of-health
#5
Lisa Schulkind
We know that healthier mothers tend to have healthier infants, but we do not know how much of that relationship reflects the intergenerational transmission of genetic attributes versus environmental influences. From a policy perspective, it is crucial to understand which environmental influences are important and whether investments in one generation affect outcomes for the next. I use variation in the implementation of Title IX to measure the effects of increased athletic opportunities on the health of infants...
November 22, 2016: Health Economics
https://www.readbyqxmd.com/read/27829969/chronic-traumatic-encephalopathy-in-athletes-involved-with-high-impact-sports
#6
Cyrus Safinia, Eric M Bershad, H Brent Clark, Karen SantaCruz, Naila Alakbarova, Jose I Suarez, Afshin A Divani
BACKGROUND AND PURPOSE: Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease occurring most commonly in athletes and is caused by repeated concussive or subconcussive blows to the head. The main purpose of this review is to evaluate the published literature on chronic traumatic encephalopathy (CTE) in athletes participating in high-impact sports. In particular, we highlight the significance of concussive and subconcussive impacts in multiple sports, elucidate the differences between clinical/pathological features of CTE and related neurodegenerative diseases, and provide an explanation for the variation in clinical presentation between athletes of different sports...
October 2016: Journal of Vascular and Interventional Neurology
https://www.readbyqxmd.com/read/27736250/olympic-genes-on-the-podium
#7
Fabian Sanchis-Gomar, Helios Pareja-Galeano, Jose A Rodriguez-Marroyo, Jos J de Koning, Alejandro Lucia, Carl Foster
Despite some advances, it remains largely unknown how the millions of variations in the human genome influence athletic performance (especially in endurance events), and no single genetic test can really predict sports talent. However, there is experimental evidence from animal research that selecting for even a simple characteristic such as running ability can produce comparatively large and rapid changes in performance. That such selection has not been specifically documented in humans is more evidence of the limits of physiology-archeology than of the unlikelihood of selection for physical abilities...
October 2016: International Journal of Sports Physiology and Performance
https://www.readbyqxmd.com/read/27717280/evaluation-of-fibronectin-1-in-one-dried-blood-spot-and-in-urine-after-rhgh-treatment
#8
P Ferro, R Ventura, C Pérez-Mañá, M Farré, J Segura
Since the appearance of recombinant human growth hormone (rhGH) in the 80's, its expansion and acquisition through the black market has increased, so the detection of its abuse continues to be a challenge at present. New biomarkers that are more reliable and sensitive, allowing a larger detection window, are still needed. In this line, Fibronectin 1 (FN1) has been proposed as potential genetic and protein biomarker of rhGH abuse in peripheral blood lymphocytes, serum and plasma. However, logistic problems associated with current blood collection in sports drug testing points towards potential new alternative matrices that could be good candidates to be evaluated...
October 7, 2016: Drug Testing and Analysis
https://www.readbyqxmd.com/read/27707537/exercise-in-patients-with-hypertrophic-cardiomyopathy-a-review-of-current-evidence-national-guideline-recommendations-and-a-proposal-for-a-new-direction-to-fitness
#9
Waseem Hindieh, Arnon Adler, Adaya Weissler-Snir, Dana Fourey, Sarah Harris, Harry Rakowski
Hypertrophic cardiomyopathy is a common genetic disorder with a prevalence of 1:500 in the general population. Amongst a varied spectrum of clinical presentations, the most feared complication of this cardiac disorder is sudden cardiac death. Although only a minority of patients with hypertrophic cardiomyopathy who suffer sudden cardiac death or resuscitated cardiac arrest do so during exercise, strenuous physical activity is regarded as an important trigger for these tragic outcomes. Furthermore, during exercise, patients with hypertrophic cardiomyopathy may develop augmentation of left ventricular outflow tract obstruction, myocardial ischemia, diastolic dysfunction and/or inappropriate vasodilation in non-exercising vascular beds...
September 20, 2016: Journal of Science and Medicine in Sport
https://www.readbyqxmd.com/read/27706926/discordant-genotyping-results-using-dna-isolated-from-anti-doping-control-urine-samples
#10
Eva Choong, Jenny J Schulze, Magnus Ericsson, Anders Rane, Lena Ekström
The UGT2B17 gene deletion polymorphism is known to correlate to urinary concentration of testosterone-glucuronide and hence this genotype exerts a large impact on the testosterone/epitestosterone (T/E) ratio, a biomarker for testosterone doping. The objective of this study was to assess if DNA isolated from athletes' urine samples (n = 713) obtained in routine doping controls could be targeted for genotyping analysis for future integration in the athlete's passport. A control population (n = 21) including both urine and blood DNA was used for genotyping concordance test...
October 5, 2016: Drug Testing and Analysis
https://www.readbyqxmd.com/read/27678258/genetic-correlations-between-dressage-show-jumping-and-studbook-entry-inspection-traits-in-a-process-of-specialization-in-dutch-warmblood-horses
#11
G Rovere, B J Ducro, J A M van Arendonk, E Norberg, P Madsen
Sport performance in dressage and show jumping are two important traits in the breeding goals of many studbooks. To determine the optimum selection scheme for jumping and dressage, knowledge is needed on the genetic correlation between both disciplines and between traits measured early in life and performance in competition in each discipline. This study aimed to estimate genetic parameters to support decision-making on specialization of breeding horses for dressage and show jumping in Dutch warmblood horses...
September 27, 2016: Journal of Animal Breeding and Genetics, Zeitschrift Für Tierzüchtung und Züchtungsbiologie
https://www.readbyqxmd.com/read/27671890/angiogenesis-in-alkaptonuria
#12
Lia Millucci, Giulia Bernardini, Barbara Marzocchi, Daniela Braconi, Michela Geminiani, Silvia Gambassi, Marcella Laschi, Bruno Frediani, Federico Galvagni, Maurizio Orlandini, Annalisa Santucci
Alkaptonuria (AKU) is a rare genetic disease that affects the entire joint. Current standard of AKU treatment is palliative and little is known about its physiopathology. Neovascularization is involved in the pathogenesis of systemic inflammatory rheumatic diseases, a family of related disorders that includes AKU. Here, we investigated the presence of neoangiogenesis in AKU synovium and healthy controls. Synovium from AKU patients, who had undergone total joint replacement or arthroscopy, or from healthy patients without any history of rheumatic diseases, who underwent surgical operation following sport trauma was subjected to hematoxylin and eosin staining...
November 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27652285/endoscopic-extra-articular-surgical-removal-of-heterotopic-ossification-of-the-rectus-femoris-tendon-in-a-series-of-athletes
#13
Fernando Comba, Nicolás S Piuzzi, José Ignacio Oñativia, Gerardo Zanotti, Martín Buttaro, Francisco Piccaluga
BACKGROUND: Calcific deposits in tendon, muscles, and periarticular areas are very common. Heterotopic ossification of the rectus femoris (HORF) is a rare condition, and several theories exist regarding the etiopathogenesis, which appears to be multifactorial with traumatic, genetic, and local metabolic factors involved. Although HORF typically responds to nonoperative treatment, when this approach fails, endoscopic treatment is a minimally invasive technique to address the pathology...
September 2016: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/27649524/genotype-dependent-metabolism-of-exogenous-testosterone-new-biomarkers-result-in-prolonged-detectability
#14
Thomas Piper, Wilhelm Schänzer, Mario Thevis
Testosterone (T) misuse still represents a major problem in sports drug testing. Many strategies have been developed and applied to routine doping controls in recent years to enable both to identify suspicious samples in initial testing procedures and to confirm the exogenous origin of urinary T by means of carbon isotope ratio (CIR) determinations. Depending on the tested individual's genotype of UGT2B17, significantly different amounts of T are glucuronidated and excreted, which results in unaffected T/epitestosterone ratios after T misuse in those subjects with the deletion/deletion polymorphism (del/del)...
September 20, 2016: Drug Testing and Analysis
https://www.readbyqxmd.com/read/27631191/human-genetic-variation-sport-and-exercise-medicine-and-achilles-tendinopathy-role-for-angiogenesis-associated-genes
#15
Masouda Rahim, Louis Y El Khoury, Stuart M Raleigh, William J Ribbans, Michael Posthumus, Malcolm Collins, Alison V September
Sport and Exercise Medicine is one of the important subspecialties of 21st century healthcare contributing to improving the physical function, health, and vitality of populations while reducing the prevalence of lifestyle-related diseases. Moreover, sport and exercise are associated with injuries such as Achilles tendinopathy, which is a common tendon injury. The angiogenesis-associated signaling pathway plays a key role in extracellular matrix remodeling, with increased levels of angiogenic cytokines reported after cyclic stretching of tendon fibroblasts...
September 2016: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/27581206/purple-foliage-coloration-in-tea-camellia-sinensis-l-arises-from-activation-of-the-r2r3-myb-transcription-factor-csan1
#16
Binmei Sun, Zhangsheng Zhu, Panrong Cao, Hao Chen, Changming Chen, Xin Zhou, Yanhui Mao, Jianjun Lei, Yanpin Jiang, Wei Meng, Yingxi Wang, Shaoqun Liu
Purple foliage always appears in Camellia sinensis families; however, the transcriptional regulation of anthocyanin biosynthesis is unknown. The tea bud sport cultivar 'Zijuan' confers an abnormal pattern of anthocyanin accumulation, resulting in a mutant phenotype that has a striking purple color in young foliage and in the stem. In this study, we aimed to unravel the underlying molecular mechanism of anthocyanin biosynthetic regulation in C. sinensis. Our results revealed that activation of the R2R3-MYB transcription factor (TF) anthocyanin1 (CsAN1) specifically upregulated the bHLH TF CsGL3 and anthocyanin late biosynthetic genes (LBGs) to confer ectopic accumulation of pigment in purple tea...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27569295/nonischemic-left-ventricular-scar-and-cardiac-sudden-death-in-the-young
#17
Cira R T di Gioia, Carla Giordano, Bruna Cerbelli, Annalinda Pisano, Elena Perli, Enrico De Dominicis, Barbara Poscolieri, Vincenzo Palmieri, Costantino Ciallella, Paolo Zeppilli, Giulia d'Amati
Nonischemic Left Ventricular Scar (NLVS) is a pattern of myocardial injury characterized by midventricular and/or subepicardial gadolinium hyper enhancement at cardiac magnetic resonance, in absence of significant coronary artery disease. We aimed to evaluate the prevalence of NLVS in juvenile sudden cardiac death and to ascertain its aetiology at autopsy. We examined 281 consecutive cases of sudden death of subjects aged 1 to 35 years of age. NLVS was defined as a thin, grey rim of subepicardial and/or midmyocardial scar in the left ventricular free wall and/or the septum, in absence of significant stenosis of coronary arteries...
August 25, 2016: Human Pathology
https://www.readbyqxmd.com/read/27560096/brain-trauma-and-autophagy-what-flies-and-mice-can-teach-us-about-conserved-responses
#18
Eric P Ratliff, Ayeh Barekat, Marta M Lipinski, Kim D Finley
Drosophila models have been successfully used to identify many genetic components that affect neurodegenerative disorders. Recently, there has been a growing interest in identifying innate and environmental factors that influence the individual outcomes following traumatic brain injury (TBI). This includes both severe TBI and more subtle, mild TBI (mTBI), which is common in people playing contact sports. Autophagy, as a clearance pathway, exerts protective effects in multiple neurological disease models. In a recent publication, we highlighted the development of a novel repetitive mTBI system using Drosophila, which recapitulates several phenotypes associated with trauma in mammalian models...
November 2016: Autophagy
https://www.readbyqxmd.com/read/27516875/genetic-differentiation-in-red-bellied-piranha-populations-pygocentrus-nattereri-kner-1858-from-the-solim%C3%A3%C2%B5es-amazonas-river
#19
Carlos Henrique Dos A Dos Santos, Carolina S de Sá Leitão, Maria de N Paula-Silva, Vera Maria F Almeida-Val
Red-bellied piranhas (Pygocentrus nattereri) are widely caught with different intensities throughout the region of Solimões-Amazonas River by local fishermen. Thus, the management of this resource is performed in the absence of any information on its genetic stock. P. nattereri is a voracious predator and widely distributed in the Neotropical region, and it is found in other regions of American continent. However, information about genetic variability and structure of wild populations of red-bellied piranha is unavailable...
June 2016: Ecology and Evolution
https://www.readbyqxmd.com/read/27508148/interaction-of-actn3-gene-polymorphism-and-muscle-imbalance-effects-on-kinematic-efficiency-in-combat-sports-athletes
#20
Hansang Jung, Namju Lee, Sok Park
PURPOSE: The purpose of this study was to determine the interaction of ACTN3 gene polymorphism and muscle imbalance effects on kinematic efficiency changes in combat sports athletes. METHODS: Six types of combat sports athletes (Judo, Taekwondo, boxing, kendo, wrestling, and Korean Ssi-reum) participated in the study. ATCN3 gene polymorphism and muscle imbalance in lower extremity were evaluated followed by analysis of differences of moment in hip, knee, and ankle joint during V-cut jumping and stop...
June 2016: Journal of Exercise Nutrition & Biochemistry
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