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

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

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

Global Prevalence of Mitral Regurgitation: A Systematic Review and Meta-Analysis of Population-Based Studies

Background/Objectives: Mitral regurgitation (MR) is the most common left heart valve disease, but its exact prevalence remains uncertain. To estimate the prevalence of MR we conducted a systematic review and meta-analysis of population-based studies. Methods: We searched the Medline/PubMed, Embase, and Scopus databases, in January 2023, for studies reporting or allowing for the calculation of the prevalence of moderate-to-severe MR in the general population. Eligible studies included those using echocardiography or primary care databases from countries with universal healthcare. Studies where echocardiography was performed for medical indications were excluded. Random-effects meta-analysis was used to calculate the pooled estimates. Subgroup and meta-regression analyses were employed to investigate the reasons for heterogeneity. Mixed-model multivariable meta-regression was used to estimate age- and sex-specific prevalence. Results: After screening 13,847 records, we identified 20 eligible studies (22 study populations) including 6,036,691 individuals. The global prevalence of moderate-to-severe MR was 0.67% (95% CI, 0.33−1.11). Prevalence increased greatly with age, and it was estimated to be approximately 0.63% (0.25–1.16) at age 50, 2.85% (1.96–3.90) at 70, and 6.45% (4.17–9.16) by 90 years. North America showed the largest crude prevalence (1.11%; 0.52−1.88), followed by Europe (0.60%; 0.34−0.92), Asia (0.24%; 0.00−0.92), and Africa (0.16%; 0.03−0.37). Differences in prevalence by geographic region and ethnic group were primarily attributable to population age. Prevalence did not differ by sex, study year, or diagnostic criteria. Conclusions: Moderate-to-severe MR is a prevalent condition, particularly among elderly people. With rising life expectancy worldwide, ensuring universal access to interventions will be vital to reduce morbidity and mortality

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

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 < 0.001), while the left foot ROM showed a moderate correlation (r = 0.46, p < 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

Effects of Cycling on Spine: A Case–Control Study Using a 3D Scanning Method

Background: Few studies have investigated the effects of adopting a specific and prolonged posture on cyclists. This study aimed to evaluate the upright spine in a sample of recreational cyclists and compare it with a sample of non-cyclists, though still athletes, through a 3D scanning method. Methods: Forty-eight participants were enrolled in this observational study. The sample consisted of 25 cyclists for the cycling group and 23 non-cyclist athletes for the control group. The Spine3D device (Sensor Medica, Guidonia Montecelio, Rome, Italy) was used to evaluate the spine of the participants in both groups. Results: The results showed significantly greater spine inclination in the cycling group compared to the control group (p < 0.01). Furthermore, there was a significant decrease in lumbar lordosis in the cycling group compared to the control group (p < 0.01). Conclusions: This case-control study raises the possibility that the onset of lower back pain in cyclists may be due to a reduction in lumbar lordosis. Furthermore, this study demonstrated that the Spine3D device can be used in sports to monitor the spine of athletes to prevent and reduce musculoskeletal deficits

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

The impact of sports experience on manual dexterity performances in school-age children

Background: Manual dexterity is the ability to manipulate objects with precision and efficiency, using hands and fingers to achieve a specific objective. This study investigated how the practice of Capoeira, a sport that stimulates coordination skills, affects manual dexterity in children regularly engaged in physical activity or in sedentary children. Methods: Eighty-four participants were enrolled in this study, including forty-six males and thirty- eight females (age: 8.52 ±1.52 years). They were divided into three groups: the Capoeira Group (n =13), the Physical Activity Group (n =30), and the Control Group (n =41). Each participant completed a manual dexterity test (n =5 trials) and the same test in dual-task (n =2 trials) using the Grooved Pegboard Test (GPT). Results: The five trials (GPT1 to GPT5) showed a decrease in the time to complete the test by the participants. The between-group variance in the finger-tapping test (GPT-FTT) and the counting test (GPT-CT) showed significant differences between groups (<0.001). Conclusion: Our results indicate that children who practiced physical activity and Capoeira had higher levels of manual dexterity compared to those of the control group. This study indicates that structured sports, such as Capoeira, can have a beneficial impact on improving manual dexterity. Considering these findings, schools should support the development of fine motor coordination through physical activity programs that emphasize coordination tasks, such as Capoeira

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