The rs12594956 polymorphism in the NRF-2 gene is associated with top-level Spanish athlete's performance status

ObjectivesTo determine the association between the nuclear respiratory factor 2 (NRF-2) polymorphisms and elite athletic performance.DesignWe compared the genotype and allele frequencies of the NRF-2 A/C (rs12594956), NRF-2 A/G (rs7181866), and NRF-2 C/T (rs8031031) polymorphisms between world-class endurance athletes (n = 89), elite power-oriented athletes (n = 38), and non-athletic controls (n = 110) of the same Caucasian (Spanish) origin.MethodsGenomic DNA was extracted from peripheral EDTA-treated, anti-coagulated blood using a standard protocol. Genotyping was performed using polymerase chain reaction (PCR).ResultsThe frequency of the AA genotype of the NRF-2 A/C (rs12594956) polymorphism was significantly higher in endurance athletes compared with power athletes (P < 0.01) and controls (P < 0.01) (48% vs. 13% and 21%, respectively). The likelihood of having the AA (rs12594956) genotype was higher in elite endurance athletes compared with controls [odds ratio (OR): 3.536, 95% confidence interval (CI): 1.903–6.571] and elite power athletes (OR: 6.170, 95%CI: 2.206–17.253).ConclusionsOur results suggest that the NRF-2 A/C polymorphism might belong to a growing group of polymorphisms associated with endurance performance at the elite level. However, it is important to replicate these findings in other groups of elite athletes using larger sample sizes.     

Semi-automatic quantification of 4D left ventricular blood flow

Background

To investigate aortic dimensions in women with Turner syndrome (TS) in relation to aortic valve morphology, blood pressure, karyotype, and clinical characteristics.

Methods and results

A cross sectional study of 102 women with TS (mean age 37.7; 18-62 years) examined by cardiovascular magnetic resonance (CMR- successful in 95), echocardiography, and 24-hour ambulatory blood pressure. Aortic diameters were measured by CMR at 8 positions along the thoracic aorta. Twenty-four healthy females were recruited as controls. In TS, aortic dilatation was present at one or more positions in 22 (23%). Aortic diameter in women with TS and bicuspid aortic valve was significantly larger than in TS with tricuspid valves in both the ascending (32.4 ± 6.7 vs. 26.0 ± 4.4 mm; p < 0.001) and descending (21.4 ± 3.5 vs. 18.8 ± 2.4 mm; p < 0.001) aorta. Aortic diameter correlated to age (R = 0.2 - 0.5; p < 0.01), blood pressure (R = 0.4; p < 0.05), a history of coarctation (R = 0.3; p = 0.01) and bicuspid aortic valve (R = 0.2-0.5; p < 0.05). Body surface area only correlated with descending aortic diameter (R = 0.23; p = 0.024).

Conclusions

Aortic dilatation was present in 23% of adult TS women, where aortic valve morphology, age and blood pressure were major determinants of the aortic diameter.     

A growth model of human papillomavirus type 16 designed from cellular automata and agent-based models

ObjectiveThis paper presents a conceptual model that is developed upon a characterization of human papillomavirus type 16 (HPV16) which is used to build a simulation prototype of the HPV16 growth process.MethodologyThe human papillomavirus type 16 is the principal virus detected in invasive lesions of cervical cancer, and associated with the greater persistence and prevalence in pre-malignant and malignant lesions. The probability of acquiring an infection with HPV16 is extremely high in sexually active individuals. However, an HPV16 infection can disappear after becoming a histological confirmed case. According to the characterization of HPV16 proposed in this paper, cells as compared to a society behaves as a complex system, i.e., cells behave in a cooperative manner, following a set of rules defined by local interactions among them. Such complex system is defined by combining a cellular automaton and agent-based models. In this way, the behavior of the HPV16 is simulated by allowing the cellular automaton to follow such parameterized behavior rules.ResultsBoth cross-sectional and prospective studies indicate that HPV16 infection persistence increase the risk of high-grade CIN, as observed in the results provided by the growth simulation model of HPV16. The average growth rate extrapolated over 52 weeks (12 months) and calculated by the model showed a 37.87% growth for CIN1, 35.53% for CIN2 and 16.92% for CIN3. Remarkably, these results are similar to the results obtained and reported by clinical studies. For example, the results obtained using the proposed model for CIN2 and the results obtained by Östör [36], have a differential of 0.53 percentage points while have a differential of 2.23 percentage points with the results obtained by Insinga et al. [51]. Also, for the CIN3, the results obtained using the proposed model, have a differential of 2.92 percentage points with the Insinga et al. [52], results.ConclusionThrough the specification of parameterized behavior rules for HPV16 that are simulated under the combined technique of cellular automata and agent-based models, the HPV life cycle can be simulated allowing for observations at different stages. The proposed model then can be used as a support tool in the investigation of HPV16, in particular (as part of our future work) to develop drugs as agents in the control of the HPV16 disease.     

The Handgrip Strength Test as a Measure of Function in Breast Cancer Survivors: Relationship to Cancer-Related Symptoms and Physical and Physiologic Parameters

OBJECTIVE: The aim of this study was to examine the relationship of muscular strength, as measured by the handgrip strength (HGS) test, with pain, fitness, fatigue, mood, and autonomic nervous system function in breast cancer survivors. DESIGN: A cross-sectional study comprising 95 breast cancer survivors was conducted. HGS; heart rate variability; pressure pain threshold of the neck, shoulder, hand, and tibia of the affected side; and fitness level (6-min walk test, neck-shoulder mobility, vertical jump, sit-to-stand test, and trunk curl test) were assessed as outcomes. Participants completed the Fatigue Piper Scale and Profile of Mood States questionnaires and the neck-shoulder visual analog scale. Correlation was conducted to examine the relationship of HGS with pain, fitness, fatigue, and mood. RESULTS: We observed a fair relationship of HGS with shoulder pain and a moderate to fair relationship with fitness (all P < 0.01; ρ range, 0.24-0.56). The relationship between HGS and heart rate variability (high-frequency domain) was weak (P = 0.049, ρ = 0.23). Likewise, the relationship between HGS and Profile of Mood States subscales ranged from weak to fair (all P < 0.001; ρ range, -0.22 to -0.36). HGS showed a weak relationship with Fatigue Piper Scale (all P < 0.01; ρ range, -0.28 to -0.35). Passive shoulder flexion, fatigue, and vertical jump were independent and significant predictors of HGS (P < 0.01; R = 0.466). CONCLUSIONS: These results suggest that the HGS test might be an important correlate of health in breast cancer survivors. This finding suggests that HGS could be recommended as an adjuvant method of evaluation, which may help with efficiency of clinical practice. Further research on breast cancer patients is needed to confirm or refute these findings.