Rapid weight loss habits before a competition in sambo athletes

Background: Like other combat sports, sambo has competition rules that divide athletes into categories based on gender, age and weight. Athletes in combat sports often resort to rapid weight loss (RWL) methods to be more competitive in lower weight categories and gain an advantage against lighter, smaller and weaker competitors. The aim of this study was to examine the methodology implemented by two different sambo age categories, junior and senior athletes, in order to attain RWL. Methods: The sample consisted of 103 male sambo elite athletes (seniors/juniors: age 28.5 ± 4.3/18.9 ± 0.8; height (m): 1.7 ± 0.1/1.8 ± 0.1; weight (kg): 76.3 ± 17.8/74.4 ± 16.3; BMI (kg/m2): 25.0 ± 3.8/23.7 ± 3.9) who completed a survey on RWL. Results: Athletes reported losing a mean of 5 kg starting approximately 12 days before a competition. The most common methodology reported by senior and junior sambo athletes was gradually increasing dieting, followed by sauna and plastic suit training. Less common methods adopted were laxatives, diuretics, the use of diet pills and vomiting. There were significant group differences for sauna and diet pill ingestion. Coaches and parents are influential people in the lives of athletes concerning the weight loss strategy to be adopted. Conclusions: This study’s results unequivocally confirm the prevalent practice of RWL in both senior and junior sambo athletes. Although athletes prevalently chose “less harmful” methods, there is a need to inform parents and coaches of the risks and benefits of RWL

Saddle Pressures Factors in Road and Off-Road Cyclists of Both Genders: A Narrative Review

: The contact point of the pelvis with the saddle of the bicycle could generate abnormal pressure, which could lead to injuries to the perineum in cyclists. The aim of this review was to summarize in a narrative way the current literature on the saddle pressures and to present the factors that influence saddle pressures in order to prevent injury risk in road and off-road cyclists of both genders. We searched the PubMed database to identify English-language sources, using the following terms: "saddle pressures", "pressure mapping", "saddle design" AND "cycling". We also searched the bibliographies of the retrieved articles. Saddle pressures are influenced by factors such as sitting time on the bike, pedaling intensity, pedaling frequency, trunk and hand position, handlebars position, saddle design, saddle height, padded shorts, and gender. The jolts of the perineum on the saddle, especially on mountain bikes, generate intermittent pressures, which represent a risk factor for various pathologies of the urogenital system. This review highlights the importance of considering these factors that influence saddle pressures in order to prevent urogenital system injuries in cyclists

Runs of homozygosity and inbreeding in thyroid cancer

BACKGROUND: Genome-wide association studies (GWASs) have identified several single-nucleotide polymorphisms (SNPs) influencing the risk of thyroid cancer (TC). Most cancer predisposition genes identified through GWASs function in a co-dominant manner, and studies have not found evidence for recessively functioning disease loci in TC. Our study examines whether homozygosity is associated with an increased risk of TC and searches for novel recessively acting disease loci. METHODS: Data from a previously conducted GWAS were used for the estimation of the proportion of phenotypic variance explained by all common SNPs, the detection of runs of homozygosity (ROH) and the determination of inbreeding to unravel their influence on TC. RESULTS: Inbreeding coefficients were significantly higher among cases than controls. Association on a SNP-by-SNP basis was controlled by using the false discovery rate at a level of q* < 0.05, with 34 SNPs representing true differences in homozygosity between cases and controls. The average size, the number and total length of ROHs per person were significantly higher in cases than in controls. A total of 16 recurrent ROHs of rather short length were identified although their association with TC risk was not significant at a genome-wide level. Several recurrent ROHs harbor genes associated with risk of TC. All of the ROHs showed significant evidence for natural selection (iHS, Fst, Fay and Wu's H). CONCLUSIONS: Our results support the existence of recessive alleles in TC susceptibility. Although regions of homozygosity were rather small, it might be possible that variants within these ROHs affect TC risk and may function in a recessive manner

Patterns of rapid weight loss in elite sambo athletes

Background: Rapid weight loss (RWL) is commonly practiced in combat sports. Both magnitude and methods used to induce RWL are largely similar among combat sports, but currently, there is no data on RWL methodology used by sambo athletes. Therefore, the aim of this study was to determine RWL procedures sambo athletes apply to lose weight rapidly. Methods: The sample consisted of 199 participants, of which 132 males and 67 females who participated in the World Sambo Championship 2020 held in Novi Sad, Serbia. Each participant received RWL questionnaire that was available in multiple languages, and every participant was instructed how to fill it out. Results: Almost 87% of sambo participants declared to have intentionally cut their weight prior to the competition, whereby 5.27 kg (SD: ±7.57) was lost. Gradual dieting, sauna use and skipping meals were the most dominant methods used to reduce weight prior to competition while more extreme methods of RWL such as the use of laxatives, diuretics, diet pills and vomiting were also implemented but by much smaller fragment of the participants involved. Conclusions: Findings from our study largely match with previously conducted RWL studies in terms of prevalence, magnitude and methods used by combat sport athletes, especially in judo and wrestling. Knowing the hazardous consequences of RWL, alternative methods of sustainable weight loss should be considered

Manual dexterity in school-age children measured by the Grooved Pegboard test: Evaluation of training effect and performance in dual-task

ackground: Manual dexterity is the ability to manipulate objects using the hands and fingers for a specific task. Although manual dexterity is widely investigated in the general and special popu- lation at all ages, numerous aspects still remain to be explored in children. The aim of this study was to assess the presence of the training effect of the execution of the Grooved Pegboard test (GPT) and to measure the performance of the GPT in dual-task (DT), i.e., during a motor task and a cognitive task. Methods: In this observational, cross-sectional study manual dexterity was assessed in children aged between 6 and 8. The procedure consisted of two phases: (1) the execution of five consecutive trials of the GPT to evaluate the training effect; (2) the execution of one trial of the GPT associated with a motor task (finger tapping test, GPT-FTT), and one trial of the GPT asso- ciated with a cognitive task (counting test, GPT-CT) to evaluate the performance in DT. Results: As for the training effect, a significant difference (p &lt; 0.001) between the five trials of the GPT (i.e., GPT1, GPT2, GPT3, GPT4, GPT5) was detected. In particular, we found a significant difference between GPT1 and GPT3 (p &lt; 0.05), GPT1 and GPT4 (p &lt; 0.001), and GPT1 and GPT5 (p &lt; 0.001), as well as between GPT2 and GPT4 (p &lt; 0.001), and GPT2 and GPT5 (p &lt; 0.001). As for the performance in DT, no differences between the best trial of the GPT (i.e., GPT5) and both the GPT-FTT and GPT-CT was found. Conclusion: Our findings suggest that the execution of the GPT in children has a training effect up to the third consecutive trial. Furthermore, the administration of the GPT in DT does not affect GPT performance

Analysis of italian BRCA1/2 pathogenic variants identifies a private spectrum in the population from the Bergamo Province in northern Italy

Germline pathogenic variants (PVs) in the BRCA1 or BRCA2 genes cause high breast cancer risk. Recurrent or founder PVs have been described worldwide including some in the Bergamo province in Northern Italy. The aim of this study was to compare the BRCA1/2 PV spectra of the Bergamo and of the general Italian populations. We retrospectively identified at five Italian centers 1019 BRCA1/2 PVs carrier individuals affected with breast cancer and representative of the heterogeneous national population. Each individual was assigned to the Bergamo or non-Bergamo cohort based on self-reported birthplace. Our data indicate that the Bergamo BRCA1/2 PV spectrum shows less heterogeneity with fewer different variants and an average higher frequency compared to that of the rest of Italy. Consistently, four PVs explained about 60% of all carriers. The majority of the Bergamo PVs originated locally with only two PVs clearly imported. The Bergamo BRCA1/2 PV spectrum appears to be private. Hence, the Bergamo population would be ideal to study the disease risk associated with local PVs in breast cancer and other disease-causing genes. Finally, our data suggest that the Bergamo population is a genetic isolate and further analyses are warranted to prove this notion

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM -/- patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

Inhibition of the platelet-derived growth factor receptor beta (PDGFRB) using gene silencing, crenolanib besylate, or imatinib mesylate hampers the malignant phenotype of mesothelioma cell lines

Malignant pleural mesothelioma (MPM) is a cancer of the pleural cavity resistant to chemotherapy. The identification of novel therapeutic targets is needed to improve its poor prognosis. Following a review of literature and a screening of specimens we found that platelet-derived growth factor receptor beta (PDGFRB) is over-expressed, but not somatically mutated, in MPM tissues. We aimed to ascertain whether PDGFRB is a MPM-cancer driver gene. The approaches employed included the use of gene silencing and the administration of small molecules, such as crenolanib and imatinib (PDGFR inhibitors) on MPM cell lines (IstMes2, Mero-14, Mero-25). Met5A cells were used as non-malignant mesothelial cell line. PDGFRB-silencing caused a decrease in the proliferation rate, and a reduced colony formation capacity, as well as an increase of the share of cells in sub-G1 and in G2 phase, and increased apoptotic rate of MPM cell lines. Loss of migration ability was also observed. Similar, or even further enhanced, results were obtained with crenolanib. Imatinib showed the least effective activity on the phenotype. In conclusion, our study highlights PDGFRB as target with a clear role in MPM tumorigenesis and provided a rationale to explore further the efficacy of crenolanib in MPM patients, with promising results

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

© 2019, The Author(s). Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors