Background: In recent years, the study of creatine supplementation in professional athletes has been of great interest. However, the genetics involved in response to supplementation is unknown. The ...aim of this study was to analyse, for the first time, the relationship between muscle performance-related genes and the risk of an increased body mass index (BMI) and muscle mass and a decrease in fat mass in professional football players after creatine supplementation. Methods: For this longitudinal study, one hundred and sixty-one men’s professional football players were recruited. The polymorphisms ACE I/D, ACTN3 c.1729C>T, AMPD1 c.34C>T, CKM c.*800A>G, and MLCK (c.49C>T and c.37885C>A) were genotyped using Single-Nucleotide Primer Extension (SNPE). To assess the combined impact of these six polymorphisms, a total genotype score (TGS) was calculated. The creatine supplementation protocol consisted of 20 g/day of creatine monohydrate for 5 days (loading dose) and 3–5 g/day for 7 weeks (maintenance dose). Anthropometric characteristics (body mass index (BMI), fat, and muscle mass) were recorded before and after the creatine supplementation protocol. Characteristics of non-contact muscle injuries during the 2022/2023 season were classified according to a consensus statement for injury recording. The results showed that the allelic frequencies of ACE and AMPD1 differed between responders and non-responders in muscle mass increase (all p < 0.05). Players with a TGS exceeding 54.16 a.u. had an odds ratio (OR) of 2.985 (95%CI: 1.560–5.711; p = 0.001) for muscle mass increase. By contrast, those with a TGS below 54.16 a.u. had an OR of 9.385 (95%CI: 4.535–19.425; p < 0.001) for suffering non-contact muscle injuries during the season. Conclusions: The increase in BMI and muscle mass in response to creatine supplementation in professional football players was influenced by a TGS derived from the combination of favourable genotypes linked to muscle performance. The CC genotype and C allele of AMPD1 were particularly associated with a higher likelihood of muscle mass increase under creatine supplementation in this group of professional football players.
The genetic profile that is needed to identify talents has been studied extensively in recent years. The main objective of this investigation was to approach, for the first time, the study of genetic ...variants in several polygenic profiles and their role in elite endurance and professional football performance by comparing the allelic and genotypic frequencies to the non-athlete population. In this study, genotypic and allelic frequencies were determined in 452 subjects: 292 professional athletes (160 elite endurance athletes and 132 professional football players) and 160 non-athlete subjects. Genotyping of polymorphisms in liver metabolisers (CYP2D6, GSTM1, GSTP and GSTT), iron metabolism and energy efficiency (HFE, AMPD1 and PGC1a), cardiorespiratory fitness (ACE, NOS3, ADRA2A, ADRB2 and BDKRB2) and muscle injuries (ACE, ACTN3, AMPD1, CKM and MLCK) was performed by Polymerase Chain Reaction-Single Nucleotide Primer Extension (PCR-SNPE). The combination of the polymorphisms for the "optimal" polygenic profile was quantified using the genotype score (GS) and total genotype score (TGS). Statistical differences were found in the genetic distributions between professional athletes and the non-athlete population in liver metabolism, iron metabolism and energy efficiency, and muscle injuries (p<0.001). The binary logistic regression model showed a favourable OR (odds ratio) of being a professional athlete against a non-athlete in liver metabolism (OR: 1.96; 95% CI: 1.28-3.01; p = 0.002), iron metabolism and energy efficiency (OR: 2.21; 95% CI: 1.42-3.43; p < 0.001), and muscle injuries (OR: 2.70; 95% CI: 1.75-4.16; p < 0.001) in the polymorphisms studied. Genetic distribution in professional athletes as regards endurance (professional cyclists and elite runners) and professional football players shows genetic selection in these sports disciplines.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
The treatment of thrombosis in patients with antiphospholipid syndrome (APS) usually requires long-term anticoagulation with vitamin K antagonists. The effectiveness of direct oral anticoagulants ...(DOACs) in APS has not been fully addressed. The purpose of this research was to analyze the efficacy (thrombotic event–free time) and tolerability (bleeding events) of DOACs in patients with APS.
We performed a descriptive analysis of a systematic review of data from patients with APS treated with DOACs reported in the literature, via EMBASE, PubMed, and the European League Against Rheumatism and American College of Rheumatology congresses. After systematic review, a meta-analysis of data from clinical trials was performed.
A total of 728 patients, accounting for 731 courses of treatment with DOACs, were identified. The majority (48.3%) presented with triple anti-phospholipid antibody positivity. The prevalence of thrombosis during DOAC treatment was 13.9%. Analysis of risk factors for recurrent thrombosis suggested that a higher mean (SD) number of prior thrombotic events (1.80 0.87 vs 1.67 1.45; P = 0.012), history of combined arterial and venous thrombosis (27.3% vs 9.2% P < 0.0001; odds ratio OR = 3.72 95% CI, 1.91–7.25), previous treatment with LMWH (9.8% vs 1.1% P = 0.04; OR = 9.95 95% CI, 1.08–91.97), use of immunosuppressant treatment (41.7% vs 12.7% P = 0.03; OR = 4.9 95% CI, 1.21–19.76), and no reason to switch anticoagulant treatment other than patient's decision (32% vs 2.8% P = 0.001; OR = 16.24 95% CI, 3.16–83.52) were associated with a high risk for re-thrombosis. Meta-Analysis did not show statistically relevant difference in risk of thrombosis or bleeding comparing warfarin with DOACs.
The findings from this systematic literature review and meta-analysis suggest that patients treated with DOACs and having risk factors such as history of recurrent thrombosis, a history of combined arterial and venous thrombosis, or a need for immunosuppressant treatment, may have higer ratio of thrombotic recurrence. There are limited data to inform decisions on the use of DOACs in patients with APS with different or no risk factors.
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To assess the antibody response in non-immunocompromised adults after two doses of BNT162b2.
Prospective, single-centre observational study in non-immunocompromised adults aged 18 years or more who ...received two doses of BNT162b2. The study contemplates analyses of serum samples collected 1.5, 3, 6, 9 and 12 months after the second dose of BNT162b2; results of the 1.5- and 3-month time-points are presented in this report. Antibodies against the receptor binding domain of the S1 subunit of the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) (anti-RBD antibodies) were measured using a commercial quantitative immunoassay. A threshold of 4160 AU/mL (corresponding to an ID50 of 1:250) was used as surrogate marker for serum neutralizing activity.
Of 273 hospital workers who received two doses of BNT162b2, 260 (95%) agreed to participate in the study; 2/260 (0.8%) were excluded because of immunocompromised conditions. At the time of this report, 230/258 (89%) participants (mean age 46.0 years (SD 11.4 years); 143/230 (62%) female; 87/230 (38%) male) had completed 3 months of follow up after the second dose of BNT162b2. Thirty-six (16%) of the 230 had documented mild SARS-CoV-2 infection before receiving the first dose of BNT162b2. Median (interquartile range (IQR)) anti-RBD titres 1.5 months after vaccination were 9356 (5844–16 876) AU/mL; 3 months after vaccination, median anti-RBD titres had declined to 3952 (2190–8561) AU/mL (p < 0.001). Of 199/230 (86.5%) participants who had anti-RBD titres above 4160 AU/mL 1.5 months after the second dose of BNT162b2, only 95/230 (41%) maintained anti-RBD titres above this level 3 months after vaccination (p < 0.001).
The decline of anti-RBD antibodies 3 months after the second dose of BNT162b2 is of concern because it raises the possibility of a short-lived humoral immunity after vaccination. Booster doses of BNT162b2 might be required to maintain high titres of anti-RBD antibodies over time.
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Background: There is a lack of specific genetic studies regarding injuries in women’s football. However, different genetic factors have been associated with tendon/ligament injuries in women football ...players. The aim of the study was to examine the genotypic frequencies of genes associated with injury risk and epidemiology in women’s amateur football players and the aetiology of injuries. Methods: In total, 168 women’s amateur football players from football clubs in the Spanish second division league and Caucasian descent were enrolled in this prospective observational cross-sectional study. AMPD1 (rs17602729), ACE (rs4646994), ACTN3 (rs1815739), CKM (rs8111989) and MLCK (rs2849757 and rs2700352) polymorphisms were genotyped. The characteristics of 169 non-contact injuries during the 2022/2023 season were classified following the International Olympic Committee (IOC) Consensus Statement for reporting injuries as follows: musculoskeletal, tendon/ligament, injury setting; and severity. The disequilibria of polymorphisms were estimated using the Hardy–Weinberg Equilibrium (HWE). The characteristics of the injuries were recorded, and the genotype characteristics were analysed. The genotype frequencies of all polymorphisms were compared between non-injured and injured football players and injury aetiologies. Results: The AMPD1 genotype distribution differed between tendon/ligament injured and non-injured (p = 0.003) with a higher frequency in the TT genotype and T allele. The genotype distribution was different for the CKM and MLCK c.37885C>A polymorphisms in training and match injuries (p = 0.038 and p = 0.031, respectively). In the ACTN3 and AMPD1 polymorphisms, the distribution of the TT genotype in both genes showed a higher frequency in severe injuries (all p < 0.001). Conclusions: Tendon/ligament injury epidemiology in women’s amateur football players was associated especially with the TT genotype of the AMPD1 gene. The TT genotype of the AMPD1 and ACTN3 genes was also associated with severity, and the CKM and MLCK polymorphisms were associated with injury settings.
Epidemiological studies focusing on occupational pathologies can be an important medium through which to bring about change with respect to workplace accidents, both in terms of prevention planning ...and management as well as the appropriate care following an accident. Ocular chemical burns benefit from urgent attention as, if not treated early and appropriately, the tissue of the eye and its functionality can be seriously compromised. The objective of this study was to collate epidemiological data on workplace ocular chemical burns which could in turn serve to identify key action points in terms of occupational health.
Cohort study with 604 cases of chemical burns to the eye occurring in the workplace between 2014 and 2015. Criteria inclusion were diagnosis of chemical burn, patient seen at the medical centre of the mutual society, workplace acquired ophthalmic pathology leading to the issuing of a sickness certificate. No exclusion criteria were defined.
Ocular chemical burns were the second most common workplace eye injury (12.68%) behind foreign bodies in the eye (43.42%). Men accounted for 68.54% of cases of ocular chemical burns. In around 75% of cases, sickness certification was for less than 7 days, although 6 patients suffered permanent disability. The occupational sector which was most affected particularly the industry service industry. The economic costs with these workplace injuries were extracted.
Appropriate early medical assistance is essential. The production and distribution of clinical guides for health care workers could optimise first line assistance and mitigate possible training deficiencies.
The consumption of energy drinks (e.g., containing caffeine and taurine) has increased over the last decade among adolescents and athletes to enhance their cognitive level and improve intellectual ...and athletic performance. Numerous studies have shown that drinking moderate doses of such drinks produces beneficial effects, as they considerably boost the sporting performance of elite athletes in various sports, including both endurance and explosive events. However, apart from their ergogenic effects, the regular consumption of energy drinks also increases blood pressure and consequently incites problems such as hypertension, tachycardia, and nervousness, all of which can lead to cardiovascular disorders. A potential positive correlation between genetics and the moderate consumption of energy drinks and athletic performance has recently been reported; notwithstanding, a better understanding of the genetic variants involved in metabolism is a key area for future research to optimize the dose of energy drink consumed and obtain the maximal ergogenic effect in elite sports. The aim of this literature review, therefore, is to present the results of recent studies, classifying them according to the differences in the associations between energy drinks and: (i) Athletic performance; (ii) cardiovascular risk factors while practicing sports; and (iii) genetic associations and future prospects between the consumption of energy drinks and performance.
Nutritional strategies with iron supplementation have been shown to be effective in preventing the decline of blood biochemical parameters and sports performance. The aim of the study was to describe ...biochemical iron metabolism parameters in association with iron supplementation and HFE and AMPD1 polymorphisms in a Union Cycliste Internationale (UCI) World Tour cycling team to evaluate performance during a whole season
Twenty-eight professional men cyclists took part in this longitudinal observational pilot study. AMPD1 c.34 C>T (rs17602729) and HFE c.187 C>G (rs1799945) polymorphisms were genotyped using Single Nucleotide Primer Extension (SNPE). All the professional cyclists took oral iron supplementation throughout the season. Four complete blood analyses were carried out corresponding to UCI controls in January (1st), April (2nd), June (3rd) and October (4th). Data on participation in three-week Grand Tours, kms of competition and wins were analyzed. Results: In performance, especially in wins, there was a significant effect in HFE on biochemical hemoglobin (F = 4.255; p = 0.021) and biochemical hematocrit (F = 5.335; p = 0.009) and a hematocrit biochemical × genotype interaction (F = 3.418; p = 0.041), with higher values in professional cyclist with GC genotype. In AMPD1 there were significant effects in the biochemical iron x genotype interaction in three-week Grand Tours (F = 3.874; p = 0.029) and wins (F = 3.930; p = 0.028)
Blood biochemical iron metabolism parameters could be related to performance in the season due to increasing hemoglobin and hematocrit concentration under iron supplementation, associated with winning in the professional cyclists with GC genotype of the HFE polymorphism.
•Iron supplementation could be related to performance in a in a World Tour cycling team.•Biochemical iron metabolism parameters are influenced by genetic polymorphisms in HFE and AMPD1 under iron supplementation.•The increasing hemoglobin and hematocrit concentration was associated with winning in cyclists with GC genotype in HFE gene.•AMPD1 gene has an effect in serum iron to compete in three-week Grand Tours and winning in professional cyclists.
•Menopause is a physiological period in that the quality of life in women is affected.•Healthy lifestyle associated with pharmacological treatment improve the quality of life in mid-life ...women.•Useful tools are needed to assess the QoL in climateric women.
The aim of the study is to assess whether women who choose to use menopausal hormone therapy (MHT) have lower quality of life (QoL) than those who do not initiate it using Cervantes short form scale (C-SF), and analyze sociodemographic factors associated with lower QoL in women.
A cross-sectional descriptive observational study was made in four hundred and eighty women with climacteric symptoms.
Mean age was 51.1 years. Two hundred and sixty-one women (54.3 %) started MHT. The sample´s global mean in C-SF score was 51.3 ± 13.9. Women who choose to use MHT have higher score in C-SF (lower QoL) than women who reject it (58.7 ± 15.9 vs 46.7 ± 12.8; p < 0.001). We found higher score in women with early menopause (53.7 ± 15.9 vs 49.7 ± 13.1; p = 0.037); with no obesity (<30 vs >30 BMI) (52.8 ± 13.5 vs 41.0 ± 8.2; p = 0.002); with previous malignancies (56.2 ± 18.2 vs 50.2 ± 13.5; p = 0.020) and without sexual activity (58.0 ± 25.4 vs 50.4 ± 13.1; p = 0.009. No differences were found in C-SF score with respect to tobacco habits or physical activity. In the multivariate analysis, the variable independently associated to lower QoL by C-SF (high score) was to be a woman who want to initiate MHT (p = 0.004).
Women who choose to use MHT due to menopausal symptoms have lower quality of life measured by C-SF scale. Women with early menopause, with no obesity (<30 BMI), without sexual activity and with previous malignances have lower quality of life measured by C-SF scale. Women with early menopause have more psychic symptoms like nervousness, fatigue and sleep complaints by C-SF scale than women with natural menopause.
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