To determine the correlation between BRAF genotype and MLH1 promoter methylation in a screening program for Lynch syndrome (LS), a universal screening program for LS was established in two medical ...centers. Tumors with abnormal MLH1 staining were evaluated for both BRAF V600E genotype and MLH1 promoter methylation. Tumors positive for both were considered sporadic, and genetic testing was recommended for all others. A total 1011 colorectal cancer cases were screened for Lynch syndrome, and 148 (14.6%) exhibited absent MLH1 immunostaining. Both BRAF and MLH1 methylation testing were completed in 126 cases. Concordant results (both positive or both negative) were obtained in 86 (68.3%) and 16 (12.7%) cases, respectively, with 81% concordance overall. The positive and negative predictive values for a BRAF mutation in predicting MLH1 promoter methylation were 98.9% and 41%, respectively, and the negative predictive value fell to 15% in patients ≥70 years old. Using BRAF genotyping as a sole test to evaluate cases with absent MLH1 staining would have increased referral rates for genetic testing by 2.3-fold compared with MLH1 methylation testing alone (31% vs 13.5%, respectively, P<0.01). However, a hybrid approach that reserves MLH1 methylation testing for BRAF wild-type cases only would significantly decrease the number of methylation assays performed and reduce the referral rate for genetic testing to 12.7%. A BRAF mutation has an excellent positive predictive value but poor negative predictive value in predicting MLH1 promoter methylation. A hybrid use of these tests may reduce the number of low-risk patients referred to genetic counseling and facilitate wider implementation of Lynch syndrome screening programs.
Workout capacity is energy-production driven. To produce peak metabolic power outputs, the organism predominantly relies more on anaerobic metabolism, but this undoubtedly has a negative and limiting ...impact on muscle function and performance. The aim of the study was to evaluate if an innovative polyphenol-based food supplement, PerfLoad
, was able to improve metabolic homeostasis and physical performance during high-intensity exercises under anaerobic conditions. The effect of a supplementation has been investigated on fifteen recreationally-active male athletes during a randomized, double-blind and crossover clinical investigation. The Wingate test, an inducer of an unbalanced metabolism associated to oxidative stress, was used to assess maximum anaerobic power during a high-intensity exercise on a cycle ergometer. Supplementation with PerfLoad
correlated with a significant increase in total power output (5%), maximal peak power output (3.7%), and average power developed (5%), without inducing more fatigue or greater heart rate. Instead, oxidative homeostasis was stabilized in supplemented subjects. Such results demonstrated that PerfLoad
is a natural and efficient solution capable of, similarly to training benefits, helping athletes to improve their physical performance, while balancing their metabolism and reducing exercise-induced oxidative stress.
Activity simulation protocols offer useful applications in research and practice; however, the specificity of such protocols to basketball game-play is currently lacking. Consequently, this study ...aimed to develop a game-specific basketball activity simulation protocol representative of typical playing durations and assess its reliability and discriminant validity. The simulation protocol was modified from an original version (i.e., Basketball Exercise Simulation Test) to incorporate regular breaks indicative of time-outs, free-throws, and substitutions. Twelve competitive male and female adult basketball players competing in the fourth or fifth Spanish basketball division underwent repeated trials of the simulation protocol (min. 4 to max. 14 days apart) for reliability analyses. In turn, 13 competitive male (fifth division), 9 competitive female (fourth division), and 13 recreational male adult basketball players completed the simulation protocol to assess discriminant validity via comparisons between sexes (competitive players) and playing levels (males). A range of physical, technical, and perceptual-physiological variables were collected during and following the simulation protocol. Several physical and heart rate variables displayed the strongest reliability (intraclass correlation coefficient ICC = 0.72–0.96; coefficient of variation CV = 1.78–6.75%), with physical decrement, technical, blood lactate concentration, and rating of perceived exertion (RPE) variables having the weakest (ICC = 0.52–0.75; CV = 10.34–30.85%). Regarding discriminant analyses between sexes, males demonstrated significantly greater physical outputs in several variables and lower RPE compared to females ( p < 0.05, moderate -to- large effects). Comparisons between playing levels revealed competitive males had significantly greater physical outputs across many variables, alongside higher mean heart rate and lower RPE than recreational males ( p < 0.05, moderate -to- large effects). This study presents a novel game-specific basketball activity simulation protocol replicating actual playing durations and game configurations that might be successfully applied for both training and research purposes. Reliability statistics are provided for several variables to inform end-users on potential measurement error when implementing the simulation protocol. Discriminant validity of the simulation protocol was supported for several variables, suggesting it may hold practical utility in benchmarking or selecting players. Future research on this topic is encouraged examining wider samples of male and female basketball players at different levels as well as additional forms of validity for the protocol.
During the off-season, cyclists reduce their volume and intensity of training in order to recover the body from the high workload during the competitive season. Some studies have examined the effects ...of the off-season on cardiovascular, metabolic, and performance levels but have not evaluated oxygen metabolism, acid-base status, and electrolytes in cyclists. Therefore, our main objective was to analyze these markers in the off-season period (8 weeks) via finger capillary blood gasometry in well-trained cyclists. We found an increase in oxygen saturation (sO2) and oxyhemoglobin (O2Hb) (p ≤ 0.05) and a decrease in fat oxidation at maximum fat oxidation (FatMax) (p ≤ 0.05). In addition, we observed a decreasing trend of VO2 in the ventilatory threshold 2 (VT2) and maximum oxygen consumption (VO2MAX) (p ≤ 0.06) after the off-season in well-trained cyclists. Negative correlations were found between the pre–post off-season differences in the VO2 at ΔFatMax and ΔHCO3− (bicarbonate ion) and between power generated at the ΔeFTP (functional power threshold) and the ΔVO2MAX with the pH (r ≥ −0.446; p ≤ 0.05). After the off-season period, well-trained cyclists had increased markers of oxygen metabolism, decreased fat oxidation at low exercise intensities, and decreased VO2 at the VT2 and VO2MAX. Relationships were found between changes in the ΔeFTP and VO2MAX with changes in the pH and between the pH and HCO3− with changes in La−.
To analyze the effectiveness of resistance training programs (RTP) on strength, functional capacity, balance, general health perception, and fatigue for people with Multiple Sclerosis (MS) and to ...determine the most effective dose of RTP in this population.
Studies examining the effect of RTP on strength, functional capacity, balance, general health perception, and fatigue in MS patients were included. 44 studies were included. The meta-analysis, subgroup analysis and meta-regression methods were used to calculate the mean difference and standardized mean difference.
Significant group differences were observed in knee extensor (p = 0.01) and flexor (p < 0.001), but not in 1-repetition maximum. Regarding functional capacity and balance, differences between groups, in favour of the RTP group, were found in the Timed Up and Go Test (p = 0.001), walking endurance, (p = 0.02) gait speed (p = 0.02) and balance (p = 0.02). No significant differences between groups were observed in fatigue or general health perception. The results regarding the optimal dose are inconsistent.
RTP improves strength, functional capacity, balance, and fatigue in people with MS. Registration: (PROSPERO): CRD42020182781
Implications for rehabilitation
Resistance training is a valid strategy to improve isometric strength and functional capacity in MS patients.
RTP using long durations (more than 6 weeks), high intensity (more than 80% 1-RM) and two-day weekly training frequency may be a correct stimulus to improve strength, functional capacity, balance, and fatigue in people with MS.
Trainers and rehabilitators should consider these indicators in order to maximize muscular and functional adaptations in this population.
Low sleep quality, cardiac autonomic dysfunction and poor quality of life are some of the most prevalent symptoms in people with Multiple Sclerosis (MS). In addition to the progression of the ...disease, these symptoms are aggravated by physical inactivity. Therefore, home confinement due to COVID-19 pandemic restrictions could further worsen these symptoms. This study aims to analyze the effect of home confinement on objective and subjective sleep quality, cardiac autonomic control based on heart rate variability (HRV), and health-related quality of life in people with MS.
Actigraphic and subjective sleep quality (Karolinska Sleep Diary, KSD), HRV (Polar-H7), and quality of life (Multiple Sclerosis Quality of Life-54) were measured before and after 2 months of home confinement in 17 people with MS (7:10 men/women; age: 43.41±10.88 years; body mass index: 24.87±3.31 kg/m2; Expanded Disability Status Scale: 2.85±1.34 a.u.).
Actigraphic sleep quality (sleep efficiency: ES=1.27, p = 0.01, sleep time: ES=0.81, p = 0.01) and subjective sleep quality (sleep quality: ES=-0.34, p = 0.05), sleep comfort: ES=0.60; p = 0.03, ease of falling asleep: ES=0.70; p = 0.01, ease of waking up: ES=0.87, p<0.01, and having enough sleep: ES=0.87, p<0.01) significantly decreased after home confinement. No differences were observed in HRV or quality of life variables (p ≥ 0.13).
Home confinement has worsened the sleep quality, but not in cardiac autonomic control or quality of life, in people with MS. These data highlight the importance of implementing home physical training programs in this population when situations similar to home confinement occur, thus minimizing the negative effects of physical inactivity and their associated comorbidities.
Dietary (poly)phenol intake derived from the daily consumption of five portions of fruits and vegetables could protect against the development of non-communicable diseases. However, the general ...population does not meet the recommended intake. Supplementation with (poly)phenol-rich ingredients, within a varied and balanced diet, could help in filling this nutritional gap. This study aimed to validate the proof-of-concept of a (poly)phenolic supplementation developed to enhance the daily consumption of potentially bioactive compounds. Oxxynea
is a (poly)phenol-rich ingredient developed to provide the quantity and the variety corresponding to five-a-day fruit and vegetable consumption. In this double-blind, randomized cross-over study, 10 participants were supplemented with 450 mg of a (poly)phenol-based supplement or a placebo. Pharmacokinetics and urinary excretion profiles were measured for 24 and 48 h, respectively, using UPHLC-MS/MS analysis. The pharmacokinetic profile displayed a triphasic absorption, indicating peaks of circulating metabolites at 1.75 ± 0.25 h, 4.50 ± 0.34 h, 9.50 ± 0.33 h and an average T
(time of maximal plasma concentration) of 6.90 ± 0.96 h. Similarly, the urinary profile showed maximum metabolite excretion at 3-6 h, 6-10 h and 14-24 h after supplement consumption. Compared to individual metabolites belonging to different (poly)phenolic subfamilies, the total circulating and excreted metabolites showed a reduced coefficient of variation (CV 38%). The overall bioavailability estimated was 27.4 ± 3.4%. Oxxynea
supplementation may provide a sustained exposure to several (poly)phenolic metabolites and catabolites and reduces the inter-individual variation that could arise from supplementing only one class of (poly)phenol.
Free radicals are reactive products that have multiple effects on the human body. Endogenous and exogenous antioxidants manage the overproduction of free radicals. However, an imbalance between free ...radicals and antioxidant factors causes oxidative stress. Exercise and physical activity are factors that increase oxidative stress and disrupts the body's homeostasis. Intensity and duration of training, training characteristics, and fitness level can have positive or negative effects on oxidative stress. Green tea consumption is recommended for the prevention of a variety of diseases, health maintenance, and weight loss. The effectiveness of green tea is primarily due to the presence of catechins and polyphenols, specifically (-)-epigallocatechin-3-gallate, which has antioxidant and anti-inflammatory properties based on clinical and animal studies. This review investigates the effect of green tea exercise and their interactive effects on free radicals and sports improvement.
•10 weeks of strength training improves maximal neural drive in multiple sclerosis patients.•This training program decreases spasticity of lower limb in this population.•Contractile properties remain ...unchanged after 10 weeks of strength training people with multiple sclerosis.
A randomized controlled trial was conducted to analyze the effects of 10 weeks of strength training (ST) on voluntary activation, muscle activity, muscle contractile properties, and spasticity in people with MS.
30 participants were randomized to either an experimental EG (n = 18) or a control CG (n = 12) group. The EG carried out 10-weeks of ST, where the concentric phase was performed at maximum voluntary velocity. Muscle activity of the vastus lateralis (surface electromyography (sEMG) during the first 200 ms of contraction), maximal neural drive (peak sEMG), voluntary activation (central activation ratio), and muscle contractile function (via electrical stimulation) of the knee extensor muscles, as well as spasticity, were measured pre- and post-intervention.
The EG showed a significant improvement with differences between groups in muscle activity in EMG0–200 (p = 0.031; ES = -0.8) and maximal neural drive (p = 0.038; ES = -0.8), as well as improvement in the ST group with a trend towards significance in EMG0–100 (p = 0.068; ES = -0.6). CAR increased after intervention in ST group (p = 0.010; ES=-0.4). Spasticity also improved in the ST group, with differences between group after intervention, in first swing excursion (right leg: p = 0.006; ES = -1.4, left leg: p = 0.031; ES = -1.2), number of oscillations (right leg: p = 0.001; ES = -0.4, left leg: p = 0.031; ES = -0.4) and duration of oscillations (left leg: p = 0.002; ES = -0.6). Contractile properties remain unchanged in both ST group and CG.
10 weeks of ST improves muscle activity during the first 200 ms of contraction, maximal neural conduction, and spasticity in people with MS. However, ST does not produce adaptations in muscle contractile properties in this population.
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