Biological therapies are safer and more effective against psoriasis than conventional treatments. Even so, 30-50% of psoriatic patients show an inadequate response, which is associated with individual genetic heterogeneity. Pharmacogenetic studies have identified several single nucleotide polymorphisms (SNPs) as possible predictive and prognostic biomarkers for psoriasis treatment response.
View Article and Find Full Text PDFHigh-grade serous ovarian carcinoma (HGSOC) is the most genomically complex cancer, characterized by ubiquitous mutation, profound chromosomal instability, and heterogeneity. The mutational processes driving chromosomal instability in HGSOC can be distinguished by specific copy number signatures. To develop clinically relevant models of these mutational processes we derived 15 continuous HGSOC patient-derived organoids (PDOs) and characterized them using bulk transcriptomic, bulk genomic, single-cell genomic, and drug sensitivity assays.
View Article and Find Full Text PDFThe mechanisms triggering metastasis in pheochromocytoma/paraganglioma are unknown, hindering therapeutic options for patients with metastatic tumors (mPPGL). Herein we show by genomic profiling of a large cohort of mPPGLs that high mutational load, microsatellite instability and somatic copy-number alteration burden are associated with ATRX/TERT alterations and are suitable prognostic markers. Transcriptomic analysis defines the signaling networks involved in the acquisition of metastatic competence and establishes a gene signature related to mPPGLs, highlighting CDK1 as an additional mPPGL marker.
View Article and Find Full Text PDFChromosomal instability (CIN) results in the accumulation of large-scale losses, gains and rearrangements of DNA. The broad genomic complexity caused by CIN is a hallmark of cancer; however, there is no systematic framework to measure different types of CIN and their effect on clinical phenotypes pan-cancer. Here we evaluate the extent, diversity and origin of CIN across 7,880 tumours representing 33 cancer types.
View Article and Find Full Text PDFSummary: Selecting the optimal cancer cell line for an experiment can be challenging given the diversity of lines available. Here, we present CNpare, which identifies similar cell line models based on genome-wide DNA copy number.
Availability And Implementation: CNpare is available as an R package at https://github.
Objectives: Cancer-related systemic inflammation has been associated with prognosis in multiple cancer types. Conversely, local inflammation, which is characterized by dense intratumoral immune infiltrates, is a favorable predictor of survival outcome. However, these survival associations are not well established in ovarian cancer, particularly in the less frequent endometrioid and clear cell endometriosis associated histotypes.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFLong 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.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFIn recent years, increasing numbers of women have participated in extremely long races. In adult males, there is a clear association between physiological levels of endogenous sex hormones and physical performance. However, the influence of plasmatic sex hormones and the effects of different types of hormonal contraception (HC) on the modulation of physical performance in adult females remain to be fully clarified.
View Article and Find Full Text PDFOxidative stress has been widely studied in association to ultra-endurance sports. Although it is clearly demonstrated the increase in reactive oxygen species and free radicals after these extreme endurance exercises, the effects on the antioxidant defenses and the oxidative damage to macromolecules, remain to be fully clarified. Therefore, the aim of this study was to elucidate the impact of an ultramarathon race on the plasma markers of oxidative stress of 32 runners and their post-race recovery, with especial focused on sex and age effect.
View Article and Find Full Text PDFBackground: The study aimed at exploring whether muscle membrane disruption, as a surrogate for muscle damage, and inflammation recovery following a mountain ultramarathon (MUM) was related with race performance and postrace physical activity.
Methods: Blood samples were obtained from thirty-four athletes (29 men and 5 women) before a 118-km MUM, immediately after and three- and seven-days postrace. Creatine kinase (CK), lactate dehydrogenase (LDH) and C-reactive protein (CRP) were compared between faster (FR) and slower (SR) runners.
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.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFThe study aimed at assessing the acute physiological effects of running a 65-km vs a 107-km mountain ultramarathon. Nineteen athletes (15 males and 4 females) from the shorter race and forty three athletes (26 males and 17 females) from the longer race were enrolled. Body weight, respiratory and lower limb strength were assessed before and after the race.
View Article and Find Full Text PDFTelomere shortening, a well-known biomarker of aging, is a complex process influenced by several intrinsic and lifestyle factors. Although habitual exercise may promote telomere length maintenance, extreme endurance exercise has been also associated with increased oxidative stress-presumed to be the major cause of telomere shortening. Therefore, the pace of telomere shortening with age may also depend on antioxidant system efficiency, which is, in part, genetically determined.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFMartínez-Navarro, I, Montoya-Vieco, A, Collado, E, Hernando, B, Panizo, N, and Hernando, C. Muscle Cramping in the marathon: Dehydration and electrolyte depletion vs. muscle damage.
View Article and Find Full Text PDFIn sport disciplines with high levels of muscle damage such as an ultra-trail competition, full body compression garments (FBCG) may have an ergogenic effect during the recovery process. The aim of the study was to assess the influence of FBCG worn for 24 h immediately after a 107-km ultra-trail on delayed onset muscle soreness (DOMS), muscle damage, inflammatory and renal response. Thirty-two athletes (19 males and 13 females; VO: 54.
View Article and Find Full Text PDFAs 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.
View Article and Find Full Text PDFThis 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.
View Article and Find Full Text PDFPhotodermatol Photoimmunol Photomed
January 2020
The purpose of this study was to establish GENEA (Gravity Estimator of Normal Everyday Activity) cut-points for discriminating between six relative-intensity activity levels in middle-aged recreational marathoners. Nighty-eight (83 males and 15 females) recreational marathoners, aged 30-45 years, completed a cardiopulmonary exercise test running on a treadmill while wearing a GENEA accelerometer on their non-dominant wrist. The breath-by-breath V̇O2 data was also collected for criterion measure of physical activity categories (sedentary, light, moderate, vigorous, very vigorous and extremely vigorous).
View Article and Find Full Text PDF