Unraveling athletic performance: Transcriptomics and external load monitoring in handball competition.

OBJECTIVE: This study aims to comprehend the impact of handball practice on sub-elite athletes by investigating transcriptomic changes that occur during a match. The primary focus encompasses a dual objective: firstly, to identify and characterize these transcriptomic alterations, and secondly, to establish correlations between internal factors (gene expression), and external loads measured through Electronic Performance and Tracking Systems (EPTS variables). Ultimately, this comprehensive analysis seeks to evaluate both acute and chronic responses to exercise within the context of handball training. METHODS: The study included sixteen elite male athletes from the FC Barcelona handball second team. Blood samples were extracted at three different time points: before the match at baseline levels (T1), immediately upon completion (T2), and 24 hours after completion (T3). Differential gene expression, Gene Ontology Term and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses were conducted in two comparisons: Comparison 1 (T1 vs T2) and Comparison 2 (T1 vs T3). Further, the correlation between gene expression levels and training variables (external load) was conducted. RESULTS: In T1 vs T2, 3717 of the 14632 genes detected were differentially expressed (adjusted p-value < 0.05), and enrichment of terms related to the immune system, mitochondria, and metabolic processes was found. Further, significant linear correlations were obtained between High-Speed running (HSR) and high-intensity variables such as acceleration ACC and deceleration DEC values with amino acids, and inflammatory and oxidative environment-related pathways, both in chronic and acute response. CONCLUSIONS: This research highlights the effects of external workload on elite athletes during a handball match and throughout the season. The study identifies deregulation in the immune system, mitochondrial functions, and various metabolic pathways during the match. Additionally, it establishes correlations between the external load and pathways associated with amino acids, inflammation, oxidative environment, and regulation. These findings offer insights into the immediate and chronic responses of athletes to physical effort.

Prevalence and predisposition to deep vein thrombosis in professional male soccer players

The long recovery time required after deep venous thrombosis (DVT), or other serious manifestations of venous thromboembolic disease, can lead to a reduction in sporting condition and economic losses. Neither are such events always free of clinical sequelae.ObjectiveThis study examines the prevalence of DVT in male, professional soccer players in Spain.MethodsA questionnaire on DVT events experienced by players in the ongoing 2015-16 season, and the previous 10 seasons, was sent to the medical services of all first and second division clubs in Spain. The genetic predisposition of those who suffered an event was investigated using the inCode thrombus test, as well as in 73 players who experienced no such event.ResultsFour subjects were diagnosed with DVT via clinical history and ultrasound or D-dimer determination. This associated prevalence (1.2/1000) is higher than reported (1/10,000) for this age group in the general population (18-35 years). All four affected players carried a risk allele (A1) at the ABO locus, three were homozygous for the risk allele of FactorXIII, and one was heterozygous for a risk allele of FactorXII. Among the 73 players who experienced no DVT, 3 high risk genetic variants associated with thromboembolic events were detected in 7 players (9.6%), either in the SERPINA_A10, FactorV, FactorXII, or FactorXIII genes.ConclusionDVT prevalence in professional soccer players is higher than expected for the same age segment, and highlights how genetic predisposition towards thromboembolic processes and sport-associated environmental risk factors work in tandem in the DVT appearance. (AU)

Guía de práctica clínica para la prevención, diagnóstico y tratamiento de la enfermedad tromboembólica venosa en el deporte / Clinical practice guidelines for the prevention, diagnosis and treatment of venous thromboembolism in sport

El término enfermedad tromboembólica venosa se refiere a varios procesos patológicos, entre los que destacan la trombosis venosa profunda, el tromboembolismo pulmonar, la hipertensión pulmonar tromboembólica crónica y el síndrome postrombótico. La importancia en nuestro medio reside en que es una patología que precisa un periodo de recuperación largo, de 3 a 6 meses, y que un diagnóstico tardío o no bien realizado puede ocasionar una enfermedad más grave e incluso un desenlace fatal. Es difícil establecer su prevalencia en el ámbito del deporte, aunque de forma empírica parece ser similar a la del individuo que no hace deporte. Sin embargo, el ámbito del deporte y su entorno ofrece condiciones clínicas de riesgo que pueden ser factores que precipiten su presencia, la contusión sobre el lecho vascular, el reposo de los viajes, la deshidratación, la masoterapia mal orientada, ciertas medicaciones o una predisposición genética. La presente guía ofrece una actualización del proceso, se expone la protocolización diagnóstica, las pautas de prevención y de tratamiento estándar y aplicado al deporte, pensando no solo en el deportista sino también en el profesional y en el personal acompañante

The term venous thromboembolism refers to various pathological processes that include deep vein thrombosis, pulmonary embolism, chronic thromboembolic pulmonary hypertension and the thrombotic syndrome. The importance in sports activities is that it is a pathology that requires a long recovery period varying from 3 to 6 months, and a delayed or unsuccessful diagnosis can lead to a more serious illness and even death. Its prevalence in the field of sport is difficult to establish, but empirically seems to be similar to that of the individual who does not practice sport. However, the field of sport and its environment has other clinical risk conditions to be taken into account. Bruising on the vascular bed, rest, travel, dehydration, misguided massage therapy, certain medications, or a genetic predisposition, may be factors that precipitate their presence. This guide presents an update of the process, as well as the diagnostic protocol, with prevention guidelines and standard treatments and their application in sports, and takes into account not only the sportsman, but also in the professional and accompanying personnel

Genética de la trombosis en el cáncer / The genetics of thrombosis in cancer

La ETE venosa (ETEV) es una enfermedad multifactorial y compleja, donde la interacción de factores genéticos (estimados en un 60%) y ambientales (uso de anticonceptivos orales, embarazo, inmovilización o cáncer, entre otros) determinan en cada sujeto el riesgo de trombosis. Concretamente, la asociación entre trombosis y cáncer está bien establecida, donde alrededor de un 20% de los pacientes oncológicos desarrollarán un episodio tromboembólico a lo largo de la historia natural del proceso tumoral, y la trombosis es la segunda causa de muerte en estos pacientes. En este sentido, uno de los grandes retos actuales en el campo de la oncología es identificar a los pacientes de alto riesgo de ETEV que se beneficiarían de tromboprofilaxis. Actualmente, hay un modelo de predicción de riesgo de ETEV en pacientes con cáncer (score de Khorana), cuya capacidad de identificar a los pacientes de alto riesgo es muy baja. Sin embargo, es importante destacar que este score, basado en 5 parámetros clínicos, ignora la variabilidad genética asociada al riesgo de ETEV. En este artículo se presentan los resultados preliminares del estudio Oncothromb, cuyo objetivo es desarrollar un modelo de predicción de riesgo individual de ETEV en pacientes con cáncer que reciben quimioterapia ambulatoria. Nuestro modelo incluye datos clínicos y genéticos de cada paciente (perfil genético Thrombo inCode®). Solo si se integran múltiples capas de información biológica (clínica, plasmática y genética) se podrá disponer de modelos que aporten información precisa de qué pacientes están en alto riesgo de desarrollar un episodio tromboembólico asociado a cáncer para tomar medidas profilácticas adecuadas (AU)

Venous thromboembolism (VTE) is a multifactorial and complex disease in which the interaction of genetic factors (estimated at 60%) and environmental factors (e.g., the use of oral contraceptives, pregnancy, immobility and cancer) determine the risk of thrombosis for each individual. In particular, the association between thrombosis and cancer is well established. Approximately 20% of patients with cancer develop a thromboembolic event over the course of the natural history of the tumor process, with thrombosis being the second leading cause of death for these patients. One of the greatest challenges currently facing the field of oncology is the identification of patients at high risk of VTE who can benefit from thromboprophylaxis. Currently, there is a VTE risk prediction model for patients with cancer (the Khorana risk score); however, its ability to identify patients at high risk is very low. It is important to note that this score, which is based on five clinical parameters, ignores the genetic variability associated with VTE risk. In this article, we present the preliminary results of the Oncothromb study, whose objective is to develop an individual VTE risk prediction model for patients with cancer who are treated with outpatient chemotherapy. Our model includes the clinical and genetic data on each patient (Thrombo inCode®genetic profile). Only by integrating multiple layers of biological information (clinical, plasmatic and genetic) we could obtain models that provide accurate information as to which patients are at high risk of developing a thromboembolic event associated with cancer so as to take appropriate prophylactic measures (AU)

El componente genético de las alteraciones de la coagulación y de la trombosis / The genetic component of disorders of coagulation and thrombosis

La trombosis tiene un papel crucial en la patogenia del infarto agudo de miocardio, los accidentes cerebrovasculares y la tromboembolia venosa y es el principal factor de su desenlace fatal. Estas enfermedades, cada una de las cuales tiene una incidencia anual de 1-3/1.000 individuos adultos, constituyen una de las primeras causas de mortalidad y morbilidad en la sociedad occidental. En consecuencia, a su diagnóstico, su tratamiento y su prevención se dedican grandes esfuerzos asistenciales y económicos. La trombosis es un buen ejemplo de enfermedad compleja, donde la acción de múltiples genes y su interacción con factores ambientales determinarán en cada individuo el grado de susceptibilidad a padecer la enfermedad. Está bien establecido que variantes genéticas en los genes que codifican para factores o inhibidores de la coagulación son importantes factores de riesgo tromboembólico; sin embargo, en el 50% de los pacientes con trombofilia hereditaria no se identifica ninguna de estas alteraciones. Por consiguiente, el gran reto en la actualidad es la identificación de nuevos factores genéticos de riesgo trombótico (AU)

Thrombosis plays a crucial role in the pathogenesis of acute myocardial infarction, stroke and venous thrombosis, and is the principle factor responsible for a subsequent fatal outcome. These conditions, each of which has an annual incidence of 1 to 3 per 1000 adults, are some the principle causes of morbidity and mortality in developed countries. Consequently, considerable financial and health-care resources are being devoted to their diagnosis, treatment and prevention. Thrombosis is a good example of a complex disease, in which each individual’s susceptibility to the disease is determined by the actions of numerous genes and their interactions with environmental factors. It has been established that genetic variations in the genes that code for coagulation factors or inhibitors are important risk factors for thromboembolism. However, 50% of patients with inherited thrombophilia do not have any of these genetic variations. Consequently, the major challenge today is to identify new genetic risk factors for thrombosis (AU)