Correlation between neuroimaging, neurological phenotype, and functional outcomes in Wilson's disease.

INTRODUCTION: Wilson's disease (WD) is associated with a variety of movement disorders and progressive neurological dysfunction. The aim of this study was to correlate baseline brain magnetic resonance imaging (MRI) features with clinical phenotype and long-term outcomes in chronically treated WD patients. METHODS: Patients were retrospectively selected from an institutional database. Two experienced neuroradiologists reviewed baseline brain MRI. Functional assessment was performed using the World Health Organization Disability Assessment Schedule 2.0 (WHODAS 2.0) scale, and disease severity was classified using the Global Assessment Scale for Wilson's Disease (GASWD). RESULTS: Of 27 patients selected, 14 were female (51.9%), with a mean (standard deviation [SD]) age at onset of 19.5 (7.1) years. Neurological symptoms developed in 22 patients (81.5%), with hyperkinetic symptoms being the most common (70.4%). Baseline brain MRI showed abnormal findings in 18 cases (66.7%), including T2 hyperintensities in 59.3% and atrophy in 29.6%. After a mean (SD) follow-up of 20.9 (11.0) years, WD patients had a mean score of 19.2 (10.2) on WHODAS 2.0 and 6.4 (5.7) on GASWD. The presence of hyperkinetic symptoms correlated with putaminal T2 hyperintensities (p = 0.003), putaminal T2 hypointensities (p = 0.009), and mesencephalic T2 hyperintensities (p = 0.009). Increased functional disability was associated with brain atrophy (p = 0.007), diffusion abnormalities (p = 0.013), and burden of T2 hyperintensities (p = 0.002). A stepwise regression model identified atrophy as a predictor of increased WHODAS 2.0 (p = 0.023) and GASWD (p = 0.007) scores. CONCLUSIONS: Atrophy and, to a lesser extent, deep T2 hyperintensity are associated with functional disability and disease severity in long-term follow-up of WD patients.

Robotic surgery versus Laparoscopic surgery for anti-reflux and hiatal hernia surgery: a short-term outcomes and cost systematic literature review and meta-analysis.

PURPOSE: The objective of this study is to compare the operative time, intraoperative complications, length of stay, readmission rates, overall complications, mortality, and cost associated with Robotic Surgery (RS) and Laparascopic Surgery (LS) in anti-reflux and hiatal hernia surgery. METHODS: A comprehensive literature search was conducted using MEDLINE (via PubMed), Web of Science and Scopus databases. Studies comparing short-term outcomes and cost between RS and LS in patients with anti-reflux and hiatal hernia were included. Data on operative time, complications, length of stay, readmission rates, overall complications, mortality, and cost were extracted. Quality assessment of the included studies was performed using the MINORS scale. RESULTS: Fourteen retrospective observational studies involving a total of 555,368 participants were included in the meta-analysis. The results showed no statistically significant difference in operative time, intraoperative complications, length of stay, readmission rates, overall complications, and mortality between RS and LS. However, LS was associated with lower costs compared to RS. CONCLUSION: This systematic review and meta-analysis demonstrates that RS has non-inferior short-term outcomes in anti-reflux and hiatal hernia surgery, compared to LS. LS is more cost-effective, but RS offers potential benefits such as improved visualization and enhanced surgical techniques. Further research, including randomized controlled trials and long-term outcome studies, is needed to validate and refine these findings.

Propulsive Force of Upper Limbs and its Relationship to Swim Velocity in the Butterfly Stroke.

The aims of this study were to: (1) verify the sex effect; (2) assess upper limb asymmetry in anthropometrics and propulsive force variables; and (3) identify the main determinants of butterfly swim velocity based on a set of anthropometrics, kinematics, and propulsive force variables. Twenty swimmers (10 males: 15.40±0.30 years; 10 females: 14.43±0.23 years) at the national level were recruited for analysis. A set of anthropometrics, kinematics, and propulsive force variables were measured. Overall, a significant sex effect was verified (p≤0.05). Non-significant differences between upper-limbs were noted for males and females in all variables, except for the dF in males (t=-2.66, p=0.026, d=0.66). Stroke frequency presented the highest contribution, where a one unit increase in the stroke frequency imposed an increase of 0.375 m·s-1 (95CI: 0.105;0.645, p=0.010) in the swim velocity. The swim velocity was predicted by the mean propulsive force, intra-cyclic variation of the swim velocity, and stroke frequency. Overall, swimmers exhibit non-significant differences in the variables assessed. Swim velocity in the butterfly stroke was determined by an interaction of propulsive force and kinematic variables in young swimmers.

Model invariance of the Motor Competence Assessment (MCA) from early childhood to young adulthood.

The Motor Competence Assessment (MCA) is an innovative instrument to assess motor competence along the lifespan. The MCA model and normative values were recently established from the age of 3-to-23 years old. The purpose of this study was to validate MCA from early childhood to young adulthood.One thousand participants representing four age groups (3-6, 7-10, 11-16, 17-22 years) with 250 participants each, were assessed. Invariance of the MCA model along the age groups - configural, metric and structural - was tested using multigroup CFA.The MCA model showed to fit well all age groups. The multigroup unconstrained model showed a very good fit (NFI=0.99; TLI=0.99; CFI=0.99; RMSEA=0.03). A formal test for the invariance of loading coefficients returned a non-satisfactory goodness-of-fit adjustment and a significant difference with the unconstrained model (Δχ2 = 539.57; Δdf = 18; p= .00) . The structural invariance testing did not show formal invariance between factor correlations (Δχ2 = 73.04; Δdf = 9; p= .00) but the fit of the model was acceptable (above 0.96 and a RMSEA of 0.05), indicating that correlation values inter factors are stable.This study adds information for the validation of the MCA as a useful instrument for assessing motor competence throughout the life cycle.

Hull and Aerial Holonomic Propulsion System Design for Optimal Underwater Sensor Positioning in Autonomous Surface Vessels.

Acoustic Doppler Current Profiler (ADCP) sensors measure water inflows and are essential to evaluate the Flow Curve (FC) of rivers. The FC is used to calibrate hydrological models responsible for planning the electrical dispatch of all power plants in several countries. Therefore, errors in those measures propagate to the final energy cost evaluation. One problem regarding this sensor is its positioning on the vessel. If placed on the bow, it becomes exposed to flowing obstacles, and if it is installed on the stern, the redirected water from the boat and its propulsion system change the sensor readings. To improve the sensor readings, this paper proposes the design of a catamaran-like Autonomous Surface Vessel (ASV) with an optimized hull design, aerial propulsion, and optimal sensor placement to keep them protected and precise, allowing inspections in critical areas such as ultra-shallow waters and mangroves.

Comparison of motor competence in children aged 6-9 years across northern, central, and southern European regions.

The present study aimed to examine differences in motor competence (MC) in children aged 6-9 years old in northern, central, and southern European regions using the Körperkoordinationstest für Kinder (KTK). The secondary aim of the study was to examine interactions between region and children's age, sex, and weight status (determined as healthy weight or overweight/obese). Data were pooled from independent studies conducted in Finland (mean age 7.81 ± 1.19 years, n = 690), Belgium (mean age 8.25 ± 1.09 years, n = 1896), and Portugal (mean age 8.31 ± 1.02 years, n = 758) between 2008 and 2016. Cross-cultural differences in MC and interaction effects were tested using ANOVAs and ANCOVAs. Age, sex, and BMI percentile were used as covariates. Geographical region significantly explained 19% of the variance in MC, while BMI (5%), sex (3%), and age (0.3%) were significant covariates. The interaction effect of region and age (5%), region and sex (0.6%), and region and BMI (0.2%) on MC was also significant. Cross-cultural differences in children's MC increased substantially across age, independent of weight status. Girls slightly underperformed in MC compared to boys in regions where the overall level of MC was lower. Interestingly, the association between body weight status and MC was relatively consistent across the regions. Future cross-cultural studies should further explore the influence of individual (eg, physical activity) and environmental (eg, physical activity and sport policy) factors on MC development.

Classes of developmental trajectories of body mass index: Differences in motor competence and cardiorespiratory fitness.

The purpose was to identify classes of different developmental trajectories of BMI and testing them for differences in motor competence (MC) and cardiorespiratory fitness (CRF), in children and adolescents (4 to 13 years of age). This was a 5 years' longitudinal study with six cohorts. One hundred and forty-seven children (69 girls) divided into six cohorts participated. At baseline, the youngest and the oldest cohorts had 4 and 11 years of age, respectively. Height and weight were assessed, and BMI was calculated. MC was assessed with KTK and TGMD-2, and CRF was assessed with one-mile run/walk. Developmental trajectories of BMI were identified using latent class linear-mixed modelling. Latent class membership was explained according to covariates of MC and CRF. Two meaningful classes were identified. Class 1 (78.92% of the participants) showed lower initial BMI and a lower slope compared to class 2 (21.08% of the participants) (all ps < 0.001). Class membership only predicted trajectories in motor coordination, with children in class 1 having a better development.In conclusion, this study identified two meaningful trajectories for children based on their BMI development across five time points. In line with previous research, children with slower increasing BMI showed better motor coordination improvements.

Non-linear relationships between the BMI and physical fitness in Polish adolescents.

BACKGROUND: Comparisons of physical fitness in normal weight and overweight/obese youth generally highlight the negative consequences of an elevated BMI. In contrast, several studies of children and adolescents highlight the importance of variation in indicators of physical fitness across the full spectrum of BMIs from low through high. AIM: The purpose of the study was to evaluate relationships between specific physical fitness items and the BMI among youth. SUBJECTS AND METHODS: Height, weight and six physical fitness tests were measured in 1239 males and 903 females, aged 13-16 years; BMI (kg/m2) was calculated. Fitness tests were compared by weight status using sex-specific MANCOVAs, controlling for age. Sex-specific quadratic regressions of each fitness item on the BMI were also calculated. RESULTS: The sprint, standing long jump and shuttle run indicated better performances in normal than in thin and overweight/obese boys; the latter groups did not differ. Thin and normal weight boys performed better than overweight/obese boys in sit-ups and distance run. Among girls, sit-ups differed as follows: normal > thin > overweight/obese. Thin and normal weight girls performed better than overweight/obese girls in the jump, distance run and shuttle run. Normal weight girls were faster in the sprint than the overweight/obese. The quadratic regressions indicated significant non-linear relationships between the BMI and all fitness items among boys and in four items among girls. CONCLUSION: Performances on fitness tests varied with weight status. Relationships between performances and the BMI were curvilinear except for the distance run and flexibility in girls.

Linear and nonlinear relationships between body mass index and physical fitness in Brazilian children and adolescents.

OBJECTIVES: The purpose of this study was to evaluate the linear and curvilinear relationship between body mass index (BMI) and physical fitness in children and adolescents. METHODS: Participants were 4567 (2505 girls) children aged 6-16 years. Weight and height were measured and BMI was calculated and adjusted for age and sex using WHO z-scores. Physical fitness was evaluated with the following tests: Yo-Yo test, standing long jump, seated 2-kg medicine ball throw, and 20-m dash. Participants were grouped into two groups according to their maturity status, estimated as years from peak height velocity. Associations were determined with linear and nonlinear quadratic regression models. RESULTS: The nonlinear quadratic regression coefficient was significant for the 20-m dash among girls of both maturity status levels, and in maturity status level 1 boys; for the standing long jump among boys of both maturity status levels, and in maturity status level 1 girls. The Yo-Yo test was only significant for maturity status level 1 boys. For the medicine ball throw, the linear regression coefficient was significant for both maturity status levels in both sexes. Almost all physical fitness items were observed to have meaningfully large nonlinear relationships with BMIz, but they were not all significant due to the small sample size, especially in maturity status level 2. CONCLUSION: The association between BMI and physical fitness is nonlinear in the majority of its components, and those with lower and higher BMI had poorer fitness.

Objectively measured sedentary time and academic achievement in schoolchildren.

This study aimed to evaluate the relationship between objectively measured total sedentary time and academic achievement (AA) in Portuguese children. The sample comprised of 213 children (51.6% girls) aged 9.46 ± 0.43 years, from the north of Portugal. Sedentary time was measured with accelerometry, and AA was assessed using the Portuguese Language and Mathematics National Exams results. Multilevel linear regression models were fitted to assess regression coefficients predicting AA. The results showed that objectively measured total sedentary time was not associated with AA, after adjusting for potential confounders.

The aging influence on cardiorespiratory, metabolic, and energy expenditure adaptations in head-out aquatic exercises: Differences between young and elderly women.

The purpose of this study was to: (1) establish the relationship between acute physiological responses and musical cadence; and (2) compare physiologic responses between young and older women. Eighteen older (mean = 65.06 ± 5.77 years) and 19 young (mean = 22.16 ± 2.63 years) women underwent an intermittent and progressive protocol performing the head-out aquatic exercise the "rocking horse." Results showed that older women demonstrated lower mean heart rate, blood lactate concentration (bLa), and oxygen uptake (VO2) at rest. Hierarchical linear modeling showed that variations in the rating of perceived effort and individual metabolic equivalent of task did not differ significantly by age group. However, during exercise, physiological responses of younger women were significantly different than for older women: in mean values, for each increased musical beat per minute, mean bLa was 0.003 mmol/l, VO2 was 0.024 ml/kg/min, and energy expenditure was 0.0001 kcal/kg/min higher for younger women. This study shows that increases in musical cadence increased the cardiorespiratory, metabolic, and energy expenditure responses. However, these responses during increasing intensity seemed to differ between young and older women, with lower values for the elderly group, when performing head-out aquatic exercises.

Effects of psychosocial variables in the similarity and interdependence of physical activity levels among adolescent best friend dyads.

Given that physical activity (PA) tends to decrease with age during adolescence, addressing factors that affect change is important. This study examined the similarity and interdependence of PA as influenced by psychosocial factors among adolescent best friend dyads. A total of 660 adolescents, representing 330 best friend dyads, completed questionnaires with regard to PA, sitting time, perceived exercise benefits and barriers, physical self-perception and social support for PA. Dyads were also identified as reciprocal and non-reciprocal best friends; reciprocal means that both considered each other best friends and non-reciprocal were those in which only one considered the other a best friend. Data were analysed using a hierarchical linear model framework. Results indicated significant similarities between reciprocal best friend dyads for PA and sitting time, and for sitting time in non-reciprocal best friends (P values <.01). Psychosocial variables were associated with PA in reciprocal best friend dyads and with sitting time in reciprocal and non-reciprocal best friend dyads. Best friend gender, regular sports practice of the person, perceived exercise barriers of the best friend and best friend social support were the best predictors for PA.

Epithelioid Hemangioendothelioma in a Liver Transplant Recipient: A Case Report of an Extremely Rare Tumor.

Epithelioid hemangioendothelioma is a very rare vascular neoplasm, which is often multifocal or metastatic at diagnosis. Most frequently arises in the liver, followed by the lung and bones. The authors present a case of a liver transplant recipient who developed a pattern of hepatic cholestasis associated with the appearance of a proliferative hepatic lesion with infiltrative growth. Histological examination and immunohistochemical study were compatible with the diagnosis of epithelioid hemangioendothelioma. Pulmonary micronodules were detected and lung metastases were hypothesized. Therefore, bronchoscopy was performed, which turned out to be normal, and cytology was negative for neoplastic cells. After a multidisciplinary discussion, liver re-transplantation was decided. After 8 years of follow-up, the patient is clinically stable, with no graft dysfunction, no neoplastic recurrence, and dimensional stability of the pulmonary micronodules. Patients with organ transplant have higher risk of developing carcinoma compared to the general population. The development of cancer is a multifactorial process and little is known about the etiology of epithelioid hemangioendothelioma. No standard treatment strategy has been defined yet, and the natural course of the disease is heterogenous and the individual prognosis unpredictable. Complete surgical resection is offered to patients with unifocal disease, and those with unresectable disease should be evaluated for orthotopic liver transplantation.

O hemangioendotelioma epitelióide é uma neoplasia vascular extremamente rara, muitas vezes multifocal ou metastática ao diagnóstico. O local mais frequente afetado é o fígado, seguido pelo pulmão e ossos. Os autores apresentam o caso de uma doente com antecedentes de transplante hepático que desenvolveu um padrão de colestase associado ao aparecimento de uma lesão hepática proliferativa e de crescimento infiltrativo. O exame histológico e o estudo imuno-histoquímico foram compatíveis com hemangioendotelioma epitelióide. Foram detetados micronódulos pulmonares, tendo sido colocada a hipótese de se tratarem de metástases pulmonares. Assim, foi realizada broncoscopia, que não revelou alterações, estando a citologia negativa para células neoplásicas. Após discussão multidisciplinar, foi decidido o retransplante hepático. Após 8 anos de seguimento, a doente encontra-se clinicamente estável, sem disfunção do enxerto, sem recidiva neoplásica e com estabilidade dimensional dos micronódulos pulmonares. Doentes submetidos a transplante têm maior risco de desenvolver neoplasias em comparação com a população geral. O desenvolvimento da neoplasia é um processo multifatorial, sendo a etiologia do hemangioendotelioma epitelióide ainda pouco compreendida. Não existe uma estratégia terapêutica standard, sendo o curso natural da doença heterogêneo e o prognóstico individual imprevisível. A ressecção cirúrgica é a primeira opção terapêutica nos doentes com doença unifocal, aqueles com doença irressecável devem ser avaliados para transplante hepático.

Catalytic flash pyrolysis for recovery of gasoline-range hydrocarbons from electric cable residue using a low-cost natural catalyst: An analytical Py-GC/MS study.

This investigation's novelty and objective reside in exploring catalytic flash pyrolysis of cross-linked polyethylene (XLPE) plastic residue in the presence of kaolin, with the perspective of achieving sustainable production of gasoline-range hydrocarbons. Through proximate analysis, thermogravimetric analysis, and heating value determination, this study also assessed the energy-related characteristics of cross-linked polyethylene plastic residue, revealing its potential as an energy source (44.58 MJ kg-1) and suitable raw material for pyrolysis due to its low ash content and high volatile matter content. To understand the performance as a low-cost catalyst in the flash pyrolysis of cross-linked polyethylene plastic residue, natural kaolin was subjected to characterization through thermogravimetric analysis, X-ray diffractometry (XRD), Fourier transform infrared spectroscopy (FTIR), and X-ray fluorescence (XRF). Cross-linked polyethylene plastic residue was subjected to thermal and catalytic pyrolysis in an analytical microreactor coupled to gas chromatography-mass spectrometry (Py-GC/MS system), operating at 500 °C, to characterize the distribution and composition of volatile reaction products. The application of kaolin as a catalyst resulted in a decline of the relative concentration of hydrocarbons in the diesel range (C8-C24) from approximately 87 % to 28 %, and a reduction in lubricating oils (C14-C50) from about 70 % to 13 %, while concomitantly increasing the relative concentration of lighter hydrocarbons in the gasoline range (C8-C12) from around 28 % to 87 %. Therefore, catalytic flash pyrolysis offers the potential for converting this plastic waste into a new and abundant chemical source of gasoline-range hydrocarbons. This process can be deemed viable and sustainable for managing and valorizing cross-linked polyethylene plastic residue.

Longitudinal study in male swimmers: a hierachical modeling of energetics and biomechanical contributions for performance.

The aim of this study was to assess the pooled and individual response of male swimmers over two consecutive years of training and identify the energetic and biomechanical factors that most contributed for the final performance. Nine competitive swimmers (20.0 ± 3.54 years old; 10.1 ± 3.41 years of training experience; 1.79 ± 0.07 m of height; 71.34 ± 8.78 kg of body mass; 22.35 ± 2.02 kg·m(-2) of body mass index; 1.86 ± 0.07 m of arm span; 116.22 ± 4.99 s of personal record in the 200 m long course freestyle event) performed an incremental test in six occasions to obtain the velocity at 4 mmol of blood lactate (V4) and the peak blood lactate concentrations (Lapeak) as energetics, and the stroke frequency (SF), stroke length (SL), stroke index and swim efficiency as biomechanical variables. Performance was determined based on official time's lists of 200 m freestyle event. Slight non-significant improvements in performance were determined throughout the two season period. All energetic and biomechanical factors also presented slight non-significant variations with training. Swimmers demonstrat-ed high inter-individual differences in the annual adaptations. The best performance predictors were the V4, SF and SL. Each unit of change V4, SF and SL represented an enhancement of 0.11 s, 1.21 s and 0.36 s in performance, respectively. The results show that: (i) competitive male swimmers need at least two consecutive seasons to have slight improvements in performance, energetics and biomechanical profiles; (ii) major improvements in competition performance can be accomplished by improving the V4, SF and SL based on the individual background. Key PointsElite swimmers are able to demonstrate slight changes in performance, energetic and biomechanical characteristics at least during two seasons of training;Additional improvements in competition performance can be accomplished by manipulating the V4, SF and SL based on the individual background.Each unit of change V4, SF and SL represent an enhancement of 0.11 s, 1.21 s and 0.36 s in performance, respectively.

The Mediation Role of Perceived Benefits and Barriers in the Relationship Between Support Provided by Significant Others and Physical Activity of Adolescents.

We investigated whether the relationship between significant others' social support and adolescents' physical activity (PA) is mediated by perceived barriers and benefits of PA. In this cross-sectional study, we analyzed data from 497 adolescents (girls = 272, boys = 225) aged between 12-18 years (M = 15.87, SD = 1.43) from six different middle and secondary schools. We collected data regarding social cognitive variables and PA with self-report measures and calculated the metabolic equivalent of total amount PA. We performed structural equation modeling and mediation analyses and found our proposed models fit the data. In girls, perceived PA benefits mediated the association between support provided by friends (ß = .13; IC 95% = .02 .29), a best friend (ß = .14; IC 95% = .03, .33), and parents (ß = .07; IC 95% = .01, .18), and PA. Similarly in boys, perceived PA benefits partially mediated the association between support provided by parents (ß = .09; IC 95% = .04, .37), friends (ß = .11; IC 95% = .05, .40), and a best friend (ß = .10; IC 95% = .05, .40) and PA. Perceived barriers to PA did not display any significant mediation role for either sex. Interventions to foster others' support for PA, especially from a best friend, are important for promoting PA among adolescents.

"Profiles of motor competence and its perception accuracy among children: Association with physical fitness and body fat".

The main goals of this study were to identify profiles in school-aged children based on actual Motor Competence (MC) and accuracy of Perceived Motor Competence (PMC) and to examine how children with different profiles differ in terms of Physical Fitness (PF) and Body Fat percentage (BF%). The MC of a total of 287 children (51.6% boys, aged between 6 and 10 years-old) was assessed using the Motor Competence Assessment (MCA) instrument, and the accuracy of the PMC was measured using motor tasks (standing long jump, throwing, kicking, and walking backwards). PF and BF% were assessed using the 20m shuttle run test and TANITA, respectively. Cluster (C) analysis revealed four profiles, two of which were aligned - high MC-accurate PMC (C4) and low-inaccurate (C2), and two that were non-aligned - high-inaccurate (C1) and low-accurate (C3). Children in C4 performed better on PF and had less BF% than children in C3 and C2.

LAPAROSCOPIC VERSUS OPEN SURGERY IN GASTRIC GASTROINTESTINAL STROMAL TUMORS LARGER THAN 5 CM: A SYSTEMATIC REVIEW AND META-ANALYSIS.

BACKGROUND: Surgical resection represents the main treatment for resectable nonmetastatic gastric gastrointestinal stromal tumors. Despite the feasibility and safety of laparoscopic resection, its standard use in gastric tumors larger than 5 cm is yet to be established. AIMS: This study aimed to compare the current evidence on laparoscopic resection with the classical open surgical approach in terms of perioperative, postoperative, and oncological outcomes. METHODS: The PubMed, Scopus, and Web of Science databases were consulted. Articles comparing the approach to gastric gastric gastrointestinal stromal tumors larger than 5 cm by open and laparoscopic surgery were eligible. A post hoc subgroup analysis based on the extent of the surgery was performed to evaluate the operative time, blood loss, and length of hospital stay. RESULTS: A total of nine studies met the eligibility criteria. In the study, 246 patients undergoing laparoscopic surgery and 301 patients undergoing open surgery were included. The laparoscopic approach had statistically significant lower intraoperative blood loss (p=0.01) and time to oral intake (p<0.01), time to first flatus (p<0.01), and length of hospital stay (0.01), compared to the open surgery approach. No significant differences were found when operative time (0.25), postoperative complications (0.08), R0 resection (0.76), and recurrence rate (0.09) were evaluated. The comparative subgroup analysis between studies could not explain the substantial heterogeneity obtained in the respective outcomes. CONCLUSION: The laparoscopic approach in gastric gastrointestinal stromal tumors larger than 5 cm compared to the open surgical approach is a technically safe and feasible surgical method with similar oncological results.

Dynamics of the personalities of PCSK9 on missense variants (rs505151 and rs562556) from elderly cohort studies in Brazil.

The Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) promotes the degradation of the low-density lipoprotein receptors (LDLR). Gain-of-function (GOF) variants of PCSK9 significantly affects lipid metabolism leading to coronary artery disease (CAD), owing to the raising the plasma low-density lipoprotein (LDL). Considering the public health matter, large-scale genomic studies have been conducted worldwide to provide the genetic architecture of populations for the implementation of precision medicine actions. Nevertheless, despite the advances in genomic studies, non-European populations are still underrepresented in public genomic data banks. Despite this, we found two high-frequency variants (rs505151 and rs562556) in the ABraOM databank (Brazilian genomic variants) from a cohort SABE study conducted in the largest city of Brazil, São Paulo. Here, we assessed the structural and dynamical features of these variants against WT through a molecular dynamics study. We sought fundamental dynamical interdomain relations through Perturb Response Scanning (PRS) and we found an interesting change of dynamical relation between prodomain and Cysteine-Histidine-Rich-Domain (CHRD) in the variants. The results highlight the pivotal role of prodomain in the PCSK9 dynamic and the implications for the development of new drugs depending on patient group genotype.

Exploring Perceived Barriers to Physical Activity among Older Adults Living in Low-Population Density Regions: Gender Differences and Associations with Activity Dimensions.

Older people in low-population density regions tend to have fewer resources to engage in regular physical activity (PA) compared to their counterparts in urban areas. Moreover, PA assumes different dimensions, and the amount of PA related to each dimension may differ between women and men, predisposing them to different PA practices. Therefore, this cross-sectional study aims to describe the prevalence of barriers to PA, gender differences, and their associations with different PA dimensions. A total of 259 older adults (153 women and 106 men; age, 75.17 ± 8.05 years old) living in the community in the region of Guarda (Portugal) were interviewed face to face to record their sociodemographic characteristics, general health status (comorbidity index and self-reported health), PA behaviour, and barriers to PA. Women were more likely to report "low" income and living alone (p ≤ 0.05), while men reported a higher negative health status than women (p < 0.05). Two intrinsic ("Fear of injury" (40.1%) and "Need for rest" (26.3%)) and two extrinsic barriers ("Lack of nearby facilities" (30.5%) and "I don't have transport" (25.6%)) were the most prevalent. For women, age, self-reported health, comorbidity index, and intrinsic and extrinsic barriers were similarly associated with the different PA dimensions. However, only self-reported health and extrinsic barriers were the variables associated with the different PA dimensions in men. Therefore, strategies to promote active ageing in low-population density regions should be focused on reducing intrinsic and extrinsic barriers based on gender and the PA dimension to be achieved.