La genètica de la pigmentació humana i de la predisposició al càncer de pell

Els trets de pigmentació humana, incloent-hi el color dels ulls, de la pell i del cabell, són els trets físics més visibles i diferenciables entre individus. La variació en la pigmentació entre individus està influenciada per factors ambientals (exposició a la radiació solar), factors genètics (gens implicats en el control de la ruta de la pigmentació), i per factors endocrins (hormones sexuals). Polimorfismes en gens involucrats en la ruta de pigmentació —MC1R, ASIP, TYR, OCA2, TYRP1, SLC24A4 o SLC45A2— els quals predisposen a tenir la pell clara, cabell roig o ros, i el color d’ulls blau o verd, també es corelacionen amb el risc de patir càncer de pell.Les traits de pigmentation humaine, y compris la couleur des yeux, de la peau et des cheveux, sont les traits physiques les plus visibles et reconnaissables entre individus. La variation de pigmentation entre individus est influencée par des facteurs environnementaux (exposition à la radiation solaire), des facteurs génétiques (des gènes impliqués dans le contrôle de la voie de la pigmentation) et par des facteurs endocrines (hormones sexuelles). Certains polymorphismes sur des gènes impliqués dans la voie de la pigmentation — MC1R, ASIP, TYR, OCA2, TYRP1, SLC24A4 ou SLC45A2 — prédisposant à avoir la peau claire, les cheveux roux ou blonds, la couleur des yeux bleue ou verte, se relient aussi avec le risque de souffrir d’un cancer de la peau.Los rasgos de la pigmentación humana, incluyendo el color de los ojos, de la piel y del cabello, son las características físicas más visibles y diferenciables entre individuos. La variación en la pigmentación entre individuos está influenciada por factores ambientales (exposición a la radiación solar), factores genéticos (genes implicados en el control de la ruta de pigmentación), y por factores endocrinos (hormonas sexuales). Polimorfismos en genes involucrados en la ruta de pigmentación —MC1R, ASIP, TYR, OCA2, TYRP1, SLC24A4 o SLC45A2— que predisponen a tener la piel clara, el pelo rojo o rubio, y el color de ojos azul o verde, también se correlacionan con el riesgo de sufrir cáncer de piel.Human pigmentation traits, including skin, eye, and hair colour, are the most visible physical features allowing us to distinguish between individuals. Variation in human pigmentation is influenced by environmental factors (exposure to solar radiation), genetic factors (genes involved in the pigmentation pathway), and endocrine factors (sex hormones). Polymorphisms in pigmentation genes, such as MC1R, ASIP, TYR, OCA2, TYRP1, SLC24A4 and SLC45A2, which are associated with fair skin, red or blond hair, and blue or green eyes, are also linked to a predisposition to the development of skin cancer

Pulmonary and Inspiratory Muscle Function Response to a Mountain Ultramarathon

The study aimed to provide within-race data on the time course of pulmonary function during a mountain ultramarathon (MUM). Additionally, we wanted to assess possible sex differences regarding pre- to post-race change in pulmonary and inspiratory muscle function. Lastly, we were interested in evaluating whether changes in respiratory function were associated with relative running speed and due to general or specific fatigue. 47 athletes (29 males and 18 females; 41 ± 5 years) were submitted to a cardiopulmonary exercise test (CPET) before a 107-km MUM. Spirometric variables: forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1), FEV1/FVC and peak expiratory flow (PEF); maximal inspiratory pressure (MIP); squat jump (SJ) and handgrip strength (HG) were assessed before and after the race. Additionally PEF was measured at three aid stations (33rd, 66th and 84th km) during the race. PEF declined from the 33rd to the 66th km (p = 0.004; d = 0.72) and from the 84th km to the finish line (p = 0.003; d = 0.90), while relative running speed dropped from the first (0-33 km) to the second (33-66 km) race section (p < 0.001; d = 1.81) and from the third (66-84 km) to the last race section (p < 0.001; d = 1.61). Post-race, a moderate reduction was noted in FVC (-13%; p < 0.001; d = 0.52), FEV1 (-19.5%; p < 0.001; d = 0.65), FEV1/FVC (-8.4%; p = 0.030; d = 0.59), PEF (- 20.3%; p < 0.001; d = 0.58), MIP (-25.3%; p < 0.001; d = 0.79) and SJ (-31.6%; p < 0.001; d = 1.42). Conversely, HG did not change from pre- to post-race (-1.4%; p = 0.56; d = 0.05). PEF declined during the race in parallel with running speed drop. No sex differences were noted regarding post-race respiratory function, except that FEV1/FVC decay was significantly greater among women. The magnitude of pre- to post-race respiratory function decline was uncorrelated with relative running speed

Using Accelerometry for Evaluating Energy Consumption and Running Intensity Distribution Throughout a Marathon According to Sex

The proportion of females participating in long-distance races has been increasing in the last years. Although it is well-known that there are differences in how females and males face a marathon, higher research may be done to fully understand the intrinsic and extrinsic factors affecting sex differences in endurance performance. In this work, we used triaxial accelerometer devices to monitor 74 males and 14 females, aged 30 to 45 years, who finished the Valencia Marathon in 2016. Moreover, marathon split times were provided by organizers. Several physiological traits and training habits were collected from each participant. Then, we evaluated several accelerometry- and pace-estimated parameters (pacing, average change of speed, energy consumption, oxygen uptake, running intensity distribution and running economy) in female and male amateur runners. In general, our results showed that females maintained a more stable pacing and ran at less demanding intensity throughout the marathon, limiting the decay of running pace in the last part of the race. In fact, females ran at 4.5% faster pace than males in the last kilometers. Besides, their running economy was higher than males (consumed nearly 19% less relative energy per distance) in the last section of the marathon. Our results may reflect well-known sex differences in physiology (i.e., muscle strength, fat metabolism, VO2max), and in running strategy approach (i.e., females run at a more conservative intensity level in the first part of the marathon compared to males). The use of accelerometer devices allows coaches and scientific community to constantly monitor a runner throughout the marathon, as well as during training sessions

Estimation of energy consumed by middle-aged recreational marathoners during a marathon using accelerometry-based devices

As long-distance races have substantially increased in popularity over the last few years, the improvement of training programs has become a matter of concern to runners, coaches and health professionals. triaxial accelerometers have been proposed as a one of the most accurate tools to evaluate physical activity during free-living conditions. In this study, eighty-eight recreational marathon runners, aged 30–45 years, completed a marathon wearing a GENEActiv accelerometer on their non-dominant wrist. energy consumed by each runner during the marathon was estimated based on both running speed and accelerometer output data, by applying the previously established GENEActiv cut-points for discriminating the six relative-intensity activity levels. Since accelerometry allowed to perform an individualized estimation of energy consumption, higher interpersonal differences in the number of calories consumed by a runner were observed after applying the accelerometry-based approach as compared to the speed-based method. Therefore, pacing analyses should include information of effort intensity distribution in order to adjust race pacing appropriately to achieve the marathon goal time. Several biomechanical and physiological parameters (maximum oxygen uptake, energy cost of running and running economy) were also inferred from accelerometer output data, which is of great value for coaches and doctors

Cardiac damage biomarkers and heart rate variability following a 118-km mountain race: relationship with performance and recovery

This study aimed to assess the release of cardiac damage biomarkers jointly with cardiac autonomic modulation after a mountain ultramarathon. Such knowledge and the possible relationship of these markers with race time is of primary interest to establish possible recommendations upon athletes’ recovery and return to training following these competitions. Forty six athletes enrolled in the Penyagolosa Trails CSP115 race (118 km and a total positive elevation of 5439 m) took part in the study. N-terminal pro-brain natriuretic peptide (NT-proBNP) and high-sensitive cardiac troponin T (hs-TNT) concentrations as well as linear and nonlinear heart rate variability (HRV) were evaluated before and after the race. NT-proBNP and hs-TNT significantly increased post-race; fifty percent of the finishers surpassed the Upper Reference Limit (URL) for hs-TNT while 87% exceeded the URL for NT-proBNP. Overall and vagally-mediated HRV were diminished and cardiac autonomic modulation became less complex and more predictable following the race. More pronounced vagal modulation decreases were associated with higher levels of postexertional NT-proBNP. Moreover, rise in hs-TNT and NT-proBNP was greater among faster runners, while pre-race overall and vagally-mediated HRV were correlated with finishing time. Participation in a 118-km ultratrail induces an acute release of cardiac damage biomarkers and a large alteration of cardiac autonomic modulation. Furthermore, faster runners were those who exhibited a greater rise in those cardiac damage biomarkers. In light of these findings, an appropriate recovery period after ultraendurance races appears prudent and particularly important among better performing athletes. At the same time, HRV analysis is shown as a promising tool to assess athletes’ readiness to perform at their maximum level in an ultraendurance race

Renal function recovery strategies following marathon in amateur runners

Long distance races have a physiological impact on runners. Up to now, studies analyzing these physiological repercussions have been mainly focused on muscle and cardiac damage, as well as on its recovery. Therefore, a limited number of studies have been done to explore acute kidney failure and recovery after performing extreme exercises. Here, we monitored renal function in 76 marathon finishers (14 females) from the day before participating in a marathon until 192 h after crossing the finish line (FL). Renal function was evaluated by measuring serum creatinine (sCr) and the glomerular filtration rate (GFR). We randomly grouped our cohort into three intervention groups to compare three different strategies for marathon recovery: total rest (REST), continuous running at their ventilatory threshold 1 (VT1) intensity (RUN), and elliptical workout at their VT1 intensity (ELLIPTICAL). Interventions in the RUN and ELLIPTICAL groups were performed at 48, 96, and 144 h after marathon running. Seven blood samples (at the day before the marathon, at the FL, and at 24, 48, 96, 144, and 192 h post-marathon) and three urine samples (at the day before the marathon, at the finish line, and at 48 h post-marathon) were collected per participant. Both heart rate monitors and triaxial accelerometers were used to control the intensity effort during both the marathon race and the recovery period. Contrary to our expectations, the use of elliptical machines for marathon recovery delays renal function recovery. Specifically, the ELLIPTICAL group showed a significantly lower ∆GFR compared to both the RUN group (p = 4.5 × 10−4) and the REST group (p = 0.003). Hence, we encourage runners to carry out an active recovery based on light-intensity continuous running from 48 h after finishing the marathon. In addition, full resting seems to be a better strategy than performing elliptical workouts

Ultra Trail Performance is Differently Predicted by Endurance Variables in Men and Women

The study aimed to assess the relationship between peak oxygen uptake, ventilatory thresholds and maximal fat oxidation with ultra trail male and female performance. 47 athletes (29 men and 18 women) completed a cardiopulmonary exercise test between 2 to 4 weeks before a 107-km ultra trail. Body composition was also analyzed using a bioelectrical impedance weight scale. Exploratory correlation analyses showed that peak oxygen uptake (men: r=–0.63, p=0.004; women: r=–0.85, p < 0.001), peak speed (men: r=–0.74, p < 0.001; women: r=–0.69, p=0.009), speed at first (men: r=–0.49, p=0.035; women: r=–0.76, p=0.003) and second (men: r=–0.73, p < 0.001; women: r=–0.76, p=0.003) ventilatory threshold, and maximal fat oxidation (men: r=–0.53, p=0.019; women: r=–0.59, p=0.033) were linked to race time in male and female athletes. Percentage of fat mass (men: r=0.58, p=0.010; women: r=0.62, p= 0.024) and lean body mass (men: r=–0.61, p=0.006; women: r=–0.61, p=0.026) were also associated with performance in both sexes. Subsequent multiple regression analyses revealed that peak speed and maximal fat oxidation together were able to predict 66% of male performance; while peak oxygen uptake was the only statistically significant variable explaining 69% of the variation in women’s race time. These results, although exploratory in nature, suggest that ultra trail performance is differently predicted by endurance variables in men and women

Pacing and Body Weight Changes During a Mountain Ultramarathon: Sex Differences and Performance

The study was aimed at comparing pacing adopted by males and females in a 107-km mountain ultramarathon and assessing whether pacing-related variables were associated with intracompetition body weight changes and performance. Forty-seven athletes (29 males; 18 females) were submitted to a cardiopulmonary exercise test before the race. Athletes were also weighted before the start of the race, at three midpoints (33 km, 66 km and 84 km) and after the race. Pacing was analyzed using absolute and relative speeds and accelerometry-derived sedentary time spent during the race. Results showed that females spent less sedentary time (4.72 ± 2.91 vs. 2.62 ± 2.14%; p = 0.035; d = 0.83) and displayed a smaller body weight loss (3.01 ± 1.96 vs. 4.37 ± 1.77%; p = 0.048; d = 0.77) than males. No significant sex differences were revealed for speed variability, absolute and relative speed. In addition, finishing time was correlated with: speed variability (r = 0.45; p = 0.010), index of pacing (r = -0.63; p < 0.001) and sedentary time (r = 0.64; p < 0.001). Meanwhile, intracompetition body weight changes were related with both the absolute and relative speed in the first and the last race section. These results suggest that females, as compared with males, take advantage of shorter time breaks at aid stations. Moreover, performing a more even pacing pattern may be positively associated with performance in mountain ultramarathons. Finally, intracompetition body weight changes in those races should be considered in conjunction with running speed fluctuations

Inspiratory and Lower-Limb Strength Importance in Mountain Ultramarathon Running. Sex Differences and Relationship with Performance

The study was aimed at comparing lower-limb strength and respiratory parameters between male and female athletes and their interaction with performance in a 107 km mountain ultramarathon. Forty seven runners (29 males and 18 females; mean ± SD age: 41 ± 5 years) were enrolled. Lower-limb strength assessment comprised a squat jump test, an ankle rebound test, and an isometric strength test. Respiratory assessment included pulmonary function testing and the measurement of maximal inspiratory pressure. Male athletes performed largely better in the squat jump (26 ± 4 vs. 21 ± 3 cm; p < 0.001; d = 1.48), while no sex differences were found in the other two lower-limb tests. Concerning the respiratory parameters, male athletes showed largely greater values in pulmonary expiratory variables: forced vital capacity (5.19 ± 0.68 vs. 3.65 ± 0.52 L; p < 0.001; d = 2.53), forced expiratory volume in 1 s (4.24 ± 0.54 vs. 2.97 ± 0.39 L; p < 0.001; d = 2.69), peak expiratory flow (9.9 ± 1.56 vs. 5.89 ± 1.39 L/min; p < 0.001; d = 2.77) and maximum voluntary ventilation in 12 s (171 ± 39 vs. 108 ± 23 L/min; p < 0.001; d = 1.93); while no sex differences were identified in maximal inspiratory pressure. Race time was associated with ankle rebound test performance (r = −0.390; p = 0.027), isometric strength test performance (r = −0.349; p = 0.049) and maximal inspiratory pressure (r = −0.544; p < 0.001). Consequently, it seems that athletes competing in mountain ultramarathons may benefit from improving lower-limb isometric strength, ankle reactive strength and inspiratory muscle strength. Nevertheless, further interventional studies are required to confirm these exploratory results. In addition, the fact that the magnitude of the sex difference for isometric strength was minor, as compared with the other strength tests, could represent one of the factors explaining why the performance gap between males and females is reduced in ultramarathons

Evolution of the body mass, height and BMI in participants of the Ultra-trail CSP- 115

Introducción: este estudio analiza, en 32 participantes que finalizaron el Ultratrail - CSP - 115, los cambios antropométricos sufridos en cuanto a masa corporal, altura e índice de masa corporal (IMC). Los objetivos del estudio son: analizar las diferencias entre salida y meta de mas a corporal, altura e IMC; y describir la evolución del peso durante el evento. Metodología: la masa corporal , altura e IMC fueron comparadas utilizando una prueba t de Student. Para describir la evolución de la masa corporal durante la carrera se utilizó un análisis de varianza (ANOVA) de medidas repetidas. Resultados: l os resultados obtenidos indican cambios es tadísticamente significativos para el análisis de ambos objetivos. Discusión y conclusiones : los resultados obtenidos son coherentes con otros estudios similares, aunque existen concreciones y matices interesantes. Destaca la pérdida de masa corporal de los c orredores, lo cual hace recomendable realizar medidas durante la carrera para evitar consecuencias negativas en la salud .Introduction: this study analyses anthropometric changes in terms of body mass, height and body mass index (BMI), in 32 finishers of the Ultratrail - CSP - 115 . The aims of the study are: to analyse the differences of body mass, height and BMI between the start and the finish of the race; and to describe the evolution of the weight during the event. Methodology: the body mass, height and BMI were compared using a T - S tudent test. To describe the evolution of body mass during the race an analysis of variance (ANOVA) for repeated measures was used. Results: s ignificant changes w ere observed in the analysis of both objectives. Discussion and conclusions: the results are consistent with other similar studies, although there are concretions and interesting nuances. It stresses the loss of body mass of runners, which makes it advisa ble to make measurements during the race to avoid negative health consequences.Este estudio se ha podido llevar a cabo gracias a la colaboración de Hospitales NISA, la Asociación de D iabetes de Castellón (ADI - CAS), Oximesa S.L.y Villarreal Club de Fútbol, S. A. D