Identification of new putative driver mutations and predictors of disease evolution in chronic lymphocytic leukemia

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Efectos sobre la composición corporal y la densidad mineral ósea de un programa de altitud simulada en triatletas

Introduction: body composition is an important factor to improve athletic performance. Futhermore, bone mineral density informs about the bone stiffness of the skeletal system. Objective: the aim of the present research was to analyze modifications on body composition and bone mineral density parameters after a seven week intermittent hypoxia training (IHT) program. Methods: eighteen male trained triathletes were divided in two groups: an intermittent hypoxia training group (GIHT: n: 9; 26.0 ± 6.7 years; 173.3 ± 5.9 cm; 66.4 ± 5.9 kg; VO2  max: 59.5  ±  5.0 ml/kg/min) that conducted a normoxic training plus an IHT and a control group (GC: n: 9; 29.3 ± 6.8 years; 174.9 ± 4.6 cm; 59.7 ± 6.8 kg; VO2 max: 58.9 ± 4.5 ml/kg/min) that performed only a normoxic training. Training process was standardized across the two groups. The IHT program consisted on two 60 minutes sessions per week at intensities over the anaerobic threshold and atmospheric conditions between 14.5 and 15% FiO2. Results: Before and after the seven week training, body composition and bone mineral density were analyzed. After this training program, the GIHT showed lower values in free fat mass in upper limbs and fat mass in lower limbs (p < 0.05) than before the program. In terms of bone mineral density variables, between the two groups no changes were found. Conclusion: the addition of an IHT program to normoxic training caused an improvement in body composition parameters compared to similar training under normoxic conditions.Actividad Física y Deport

New Recurrent Structural Aberrations in the Genome of Chronic Lymphocytic Leukemia Based on Exome-Sequencing Data

Chronic lymphocytic leukemia (CLL) is the most frequent lymphoproliferative syndrome in Western countries, and it is characterized by recurrent large genomic rearrangements. During the last decades, array techniques have expanded our knowledge about CLL’s karyotypic aberrations. The advent of large sequencing databases expanded our knowledge cancer genomics to an unprecedented resolution and enabled the detection of small-scale structural aberrations in the cancer genome. In this study, we have performed exome-sequencing-based copy number aberration (CNA) and loss of heterozygosity (LOH) analysis in order to detect new recurrent structural aberrations. We describe 54 recurrent focal CNAs enriched in cancer-related pathways, and their association with gene expression and clinical evolution. Furthermore, we discovered recurrent large copy number neutral LOH events affecting key driver genes, and we recapitulate most of the large CNAs that characterize the CLL genome. These results provide “proof-of-concept” evidence supporting the existence of new genes involved in the pathogenesis of CLL.S

The association of germline variants with chronic lymphocytic leukemia outcome suggests the implication of novel genes and pathways in clinical evolution

Background Chronic Lymphocytic Leukemia (CLL) is the most frequent lymphoproliferative disorder in western countries and is characterized by a remarkable clinical heterogeneity. During the last decade, multiple genomic studies have identified a myriad of somatic events driving CLL proliferation and aggressivity. Nevertheless, and despite the mounting evidence of inherited risk for CLL development, the existence of germline variants associated with clinical outcomes has not been addressed in depth. Methods Exome sequencing data from control leukocytes of CLL patients involved in the International Cancer Genome Consortium (ICGC) was used for genotyping. Cox regression was used to detect variants associated with clinical outcomes. Gene and pathways level associations were also calculated. Results Single nucleotide polymorphisms in PPP4R2 and MAP3K4 were associated with earlier treatment need. A gene-level analysis evidenced a significant association of RIPK3 with both treatment need and survival. Furthermore, germline variability in pathways such as apoptosis, cell-cycle, pentose phosphate, GNα13 and Nitric oxide was associated with overall survival. Conclusion Our results support the existence of inherited conditionants of CLL evolution and points towards genes and pathways that may results useful as biomarkers of disease outcome. More research is needed to validate these findings.S

Acute Physiological and Performance Responses to High-Intensity Resistance Circuit Training in Hypoxic and Normoxic Conditions.

The aim of this study was to analyze physical performance and physiological variables during high-intensity resistance circuit training (HRC) with the addition of 2 levels (moderate and high) of systemic hypoxia. Twelve resistance-trained young male subjects participated in the study. After a 6 repetition maximum testing session, participants performed 3 randomized trials of HRC: normoxia (NORM: fraction of inspired oxygen [FiO2] = 0.21; ∼0 m altitude), moderate hypoxia (MH: FiO2 = 0.16; ∼2.100 m altitude), or high hypoxia (HH: FiO2 = 0.13; ∼3.800 m altitude), as controlled by a hypoxic generator. Bench press force, heart rate and heart rate variability, rating of perceived exertion, resting metabolic rate, energy cost, and countermovement jump were assessed in each session. Heart rate variability in HH was significantly lower (standard deviation of all normal NN intervals [intervals between two "normal" beats] = 111.9 vs. 86.7 milliseconds; standard deviation of the difference between consecutive NN intervals = 19.5 vs. 17.0 milliseconds; p ≤ 0.05) in comparison with NORM. There were significant differences in rating of perceived exertion between NORM and HH (11.6 vs. 13.8 points). Peak and mean force on the bench press were significantly lower (p ≤ 0.05) in HH when compared with MH (peak: 725 vs. 488 N; mean: 574 vs. 373 N). Energy cost was significantly higher (p ≤ 0.01) in both hypoxic conditions compared with NORM (NORM: 10.4; MH: 11.7; HH: 13.3 kJ·min). There were no differences between conditions in heart rate and countermovement jump variables. These results indicate that hypoxic stimuli during HRC exercise alter physical performance and physiological variables and affect how strenuous the exercise is perceived to be. High-intensity resistance circuit training in hypoxia increases the stress on the performance and physiological responses, and these differences must be taken into account to avoid an excessive overload.Actividad Física y Deport

Time to Treatment Prediction in Chronic Lymphocytic Leukemia Based on New Transcriptional Patterns

Chronic lymphocytic leukemia (CLL) is the most frequent lymphoproliferative syndrome in western countries. CLL evolution is frequently indolent, and treatment is mostly reserved for those patients with signs or symptoms of disease progression. In this work, we used RNA sequencing data from the International Cancer Genome Consortium CLL cohort to determine new gene expression patterns that correlate with clinical evolution.We determined that a 290-gene expression signature, in addition to immunoglobulin heavy chain variable region (IGHV) mutation status, stratifies patients into four groups with notably different time to first treatment. This finding was confirmed in an independent cohort. Similarly, we present a machine learning algorithm that predicts the need for treatment within the first 5 years following diagnosis using expression data from 2,198 genes. This predictor achieved 90% precision and 89% accuracy when classifying independent CLL cases. Our findings indicate that CLL progression risk largely correlates with particular transcriptomic patterns and paves the way for the identification of high-risk patients who might benefit from prompt therapy following diagnosis.S

Adherence to a Mediterranean diet and sport performance in a elite female athletes futsal population

Low energy intake may lead to the loss of muscle mass, menstrual dysfunction, increased risk of fatigue, injures and the need for prolonged recovery process.1) To analyse the adherence to the Mediterranean diet of a elite female athletes futsal population, 2) To analyse the relationship between the Dietary Mediterranean index, body composition and sport performance, and 3) To analyse if the differences in the index of adherence to the Mediterranean diet generates test differences in sports performance and body composition.The adherence to a Mediterranean Diet, body composition test, isokinetic test, vertical jump test (CMJ and SJ), kicking ball, speed test and test Repeated Sprint Ability (RSA) was measured.we found that 7 out of 12 players (58.33%) showed a low index and 5 of the 12 players (41.67%) showed a means index. We found that 7 out of 12 players (58.33%) showed a low index and 5 of the 12 players (41.67%) below the optimum index. Moreover, this adhesion index did not correlate with the values of the body composition or athletic performance test. No significant differences between the players that scored below the optimal index with those with a low level of adhesion were observed. However, mass fat (%) correlated to the ability to repeat sprint.Low levels of adherence to the Mediterranean diet was observed in futsal players, the values shown in the KIDMED questionnaire did not correlate with the performance of the players nor body composition.Actividad Física y Deport

Seroprevalence of Toxoplasma gondii and associated risk factors in domestic pigs raised from Cuba

A cross-sectional study was carried out to determine the seroprevalence of Toxoplasma gondii and associated risk factors in pigs in the largest pork-producing region in Cuba. Serum samples from 420 pigs, including 210 sows and 210 post-weaning pigs, were tested for antibodies against T. gondii using a commercial indirect enzyme-linked immunosorbent assay. Anti-T. gondii antibodies were detected in 56 animals (13.3%, 95% CI: 10.1–16.6). A generalized estimating equations model revealed that the risk factors associated with higher seropositivity in pigs were altitude (higher in farm’s location < 250 m above sea level (masl) versus ≥ 250 masl) and age (higher in sows compared to post-weaning pigs). The results indicated that this protozoan parasite is widely distributed on pig farms in the study area, which is a public health concern since the consumption of raw or undercooked pork meat products containing tissue cysts is considered one of the main routes of T. gondii transmission worldwide. Control measures should be implemented to reduce the risk of exposure to T. gondii in pigs in Cuba

Effect of 12 Weeks Core Training on Core Muscle Performance in Rhythmic Gymnastics

Background: Rhythmic gymnastics performance is characterized by technical elements involving flexibility, aerobic capacity and strength. Increased core strength in rhythmic gymnastics could lead to improved sporting performance. Objective: The aim of this study was to analyze the effect of 12 weeks of core muscle training on core muscle performance in rhythmic gymnasts. Methods: A randomized controlled study involving 24 rhythmic gymnastics was conducted. Participants were randomly assigned to a control group (CG; n = 12; age 13.50 ± 3.17 years) or a training group (TG; n = 12; age 14.41 ± 2.35 years). Body composition, isometric strength of trunk, core endurance and core muscle electromyographic activity were measured (EMG) after 12 weeks of core training. Independent sample t-tests were carried out to compare baseline values between groups. A two-way repeated-measures analysis of variance (ANOVA) (time × group) was applied. Results: The TG improved body composition, trunk lean mass (mean differences MD = −0.31; p = 0.040), lean mass (MD = 0.43; p = 0.037) and bone mass (MD = −0.06; p < 0.001) after training. Core training increased isometric strength of trunk, flexion test (MD = −21.53; p = 0.019) and extension test (MD = 22.7; p = 0.049), as well as the prone bridge core endurance test (MD = −11.27; p = 0.040). The EMG values also increased in the TG in prone bridge for front trunk (MD = −58.58; p = 0.026). Conclusions: Core strength training leads to improvements in body composition, as well as improvements in trunk strength and increases in muscle electromyographic activity. These improvements could therefore improve performance during competitive rhythmic gymnastics exercises

Body composition features in different playing position of professional team indoor players

The aim of the present research was to analyze the body composition (BC) and the differences in BC among different playing position in professional basketball, handball and futsal players. BC was assessed in 70 professional indoor team sport players. Players were divided in 4 groups depending on the playing position: group 1, point guard, center/wings and defense; group 2, shooting guard/small forward, handed and midfielder; group 3, power forward/center, pivot and forward; and group 4 goalkeeper. Significant differences between playing positions in basketball in body mass (BM), height, proteins, minerals and arms, legs and trunk BM were found. In handball, significant differences between center/wings and pivot in BM and muscle mass, and between goalkeepers and handed in percentage of fat were measured. Significant differences were also found in BM of each playing position groups in the three sports and in arms and legs BM in groups 1 and 2, and trunk BM and height in group 2. Group 3 presented significant differences between futsal and basketball in skeletal muscle mass and trunk BM, and between basketball and handball in left leg BM and total BM. In group 4 significant differences in BM, height and trunk and leg BM between futsal and handball were found. BC in indoor team sports depend on the playing position and the sport discipline, the BC being result of the specific game actions of each playing position.Actividad Física y Deport