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

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

Effects of sports experience on children's gross motor coordination level

Background: Gross motor coordination (GMC) development could be influenced by age, gender, weight status, geographical area, living setting, home environment, socio-economic status, sports practice. Purpose: To verify whether practicing sports and practicing different sports could influence children’s GMC level. Methods: A total of 295 children aged 8–11 years were involved in the study and divided into 5 groups in relation to the sport they practiced: gymnastics group (n = 67; 51F, 16M), cycling group (n = 64; 15F, 49M), athletics group (n = 47; 22F, 25M), swimming group (n = 35; 20F, 15M), control group (n = 82; 42F, 40M). The four subtests of the Körperkoordinations Test für Kinder (KTK) assessed children’s GMC level. The scores from each of the four subtests were summed into the KTK total raw score (RS) and then converted into a gender and age-specific motor quotient (MQ). Results: Children practicing sports showed significantly higher RS and MQ score than children of control group (203.14 ± 38.55 vs. 163.63 ± 43.50 and 98.56 ± 15.79 vs. 83.01 ± 16.71, respectively; p < 0.001). Children practicing gymnastics had a significantly higher RS and MQ than children of cycling, swimming, and control groups (p < 0.05), children of control group had a significantly lower RS and MQ than children of all other groups (p < 0.05). Children practicing gymnastics performed better walking backwards subtest than all other children’s groups (p < 0.001). Children of control group performed worse jumping sideways subtest than children of gymnastics, athletics and swimming groups (p < 0.01). Children practicing gymnastics performed better moving sideways subtest than children of athletics, cycling and control groups (p < 0.01); children of control group performed worse than children of all other groups (p < 0.01). Children of control group performed worse hopping for height subtest than children of gymnastics, athletics and cycling groups (p < 0.05); children practicing gymnastics performed better than children of swimming and control groups (p < 0.05). Conclusions: The performance model and therefore the specialized training that each sport discipline required, could justified the differences in children’s GMC level among sports groups. Thus, coaches should plan individualized interventions and choose activity contents to support children’s GMC development

Applicability of the Cumberland Ankle Instability Tool in Elite Volleyball Athletes: A Cross-Sectional Observational Study

Background: The ease of administration of the Cumberland Ankle Instability Tool (CAIT) could represent a methodology for periodically evaluating athletes, preventing ankle instability injuries. This study aimed to achieve three objectives: (a) to evaluate the applicability of the CAIT scale in volleyball; (b) to explore whether ankle instability presents a greater risk in lower-level volleyball categories and whether elite athletes demonstrate an ability to mitigate this risk; and (c) to identify potential predictors of ankle instability. Methods: Eighty female volleyball players participated in this cross-sectional observational study. The CAIT was administered to evaluate the athletes belonging to some teams in Series A, B, and C. Results: The Spearman's ranks correlation coefficient showed significant correlations between CAIT items. Additionally, the Cronbach's alpha showed a high internal consistency. Our results showed a significant difference between athletes who reported pain and those who did not (p < 0.001). The multiple linear regression model analysis showed that pain was a predictor of ankle instability (p < 0.001). Conclusions: Our findings suggest that the CAIT can be used to evaluate ankle stability in volleyball players. This scale could represent a valuable tool for implementing specific intervention programs to prevent ankle injuries in athletes

Saddle pressures distribution at different pedaling intensities in young off-road cyclists: focus on sex

BackgroundThe pressures on the saddle depend on several factors and can compress specific neurovascular tissues, leading to acute and chronic genital pathologies. Based on the pelvic differences between males and females, the aim of this study was to explore any differences on saddle pressures distribution according to sex.MethodsTwenty young off-road cyclists (10 m, 10 f) were recruited. Each participant was evaluated on own bike installed on a specific bike roller with a magnetic resistance. Firstly, each participant was asked to warm-up for 10 min at a self-selected cadence and intensity. Then, saddle pressures distribution was measured at three different pedaling intensities (100, 140, 180 W) with a pedaling cadence of 90 rpm, using a device equipped with sensors capable of acquiring pressures.ResultsA significant difference in the ischial distance was found between males and females (p = 0.007). As pedaling intensity increased, results showed a significant higher pressure in the pubic region (p = 0.004) in males and a significant higher pressure in the posterior region in females (p = 0.034). Post hoc multiple comparisons test revealed a significant increase from 100 to 180 W (p = 0.003) in the pubic region pressure in males, while no significant differences were detected in the posterior region pressure in females.ConclusionsIn male off-road cyclists, the pressure in the pubic region is higher with increasing pedaling intensity. Hence, to prevent acute and chronic genital pathologies, it would be advisable to fix the saddle in the best possible way during the bike fitting

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

The Influence of Ankle Mobility and Foot Stability on Jumping Ability and Landing Mechanics: A Cross-Sectional Study

: Practicing physical activities or sports that involve frequent jumping and landing can strain the muscles and joints of the lower limbs, especially in those who do not have adequate physical preparation. The objective of this study was to (a) determine the correlation between ankle range of motion (ROM) and landing stability following jumps; (b) assess the association between the jump height in a counter-movement jump (CMJ) test and ankle ROM; and (c) examine the connection between stabilometry during specific jumps movements present in many sports and in ankle stabilization. Sixty-two healthy amateur volleyball players participated in the study (age: thirty-seven females and twenty-five males; age (years): 16.5 ± 4.25; height (cm): 166 ± 11.4; weight (Kg): 61.6 ± 13.7). Participants were recruited for the study in collaboration with student sports associations. The evaluations encompassed the measurement of ankle joint mobility for both lower limbs using an inertial sensor, a static baropodometric and stabilometric analysis using a pressure platform, and the CMJ test using the Microgate system. After the assessments, participants performed a "specific jump landing task". Significant correlations were found between foot range of motion (ROM) and counter-movement jump (CMJ) performance. Specifically, the ROM of the right foot had a strong correlation with the CMJ (r = 0.81, p &lt; 0.001), while the left foot ROM showed a moderate correlation (r = 0.46, p &lt; 0.001). The specific jump task revealed substantial changes in stabilometry parameters, particularly during forward hops compared to lateral jumps. Dorsiflexion ROM significantly impacts jumping ability. Evaluating landing patterns and stabilometry during targeted activities can help optimize training, improve dynamic balance, and reduce ankle injury risk

Postural control during the back squat at different load intensities in powerlifters and weightlifters

Background: The movement of the barbell has been detected as success factor for the snatch and the clean and jerk events. As the barbell’s movement has been shown to be related to the athlete’s body movement, we hypothesized that the latter could be a success factor also for the back squat (BS) event. Hence, this study aimed to investigate postural control during the execution of the BS at different load intensities in powerlifters and weightlifters. Methods: Seventeen powerlifters and weightlifters were enrolled and the one-repetition maximum (1-RM) of the BS of each participant was measured. Afterwards, the assessment of postural control during the execution of the BS at different load intensities (i.e. 60%, 70%, 80%, 90%, 100%) of the 1-RM of each participant was carried out through a posturographic platform to measure the displacement of the centre of pressure (CoP). The following parameters were considered: sway path length (SPL), sway ellipse surface (SES), length/surface (LFS ratio), sway mean speed (SMS), CoP coordinates along X and Y planes. Results: We found a significant increase in SPL and LFS ratio, and a significant decrease in SMS as the load intensity increased. In detail, we detected a significant difference in: (a) SPL between the BS at 60% and 80%, 60% and 90%, 60% and 100%; between the BS at 70% and 90%, 70% and 100%; between the BS at 80% and 100%; and between the BS at 90% and 100%; (b) SMS between the BS at 60% and 80%, 60% and 90%; (c) LFS ratio between the BS at 60% and 90%, 60% and 100%. Conclusions: These results suggest that powerlifters and weightlifters adopt different postural control strategies depending on the load intensity when performing the BS. Our findings showed that higher effort could affect postural control during the BS. Thus, postural control could be considered a success factor for the BS