👤 Izabela Vieira Duarte Baptista

Traditional variable-centred approaches often analyse physical behaviours (sedentary behaviour [SB], light physical activity [LPA], and moderate-to-vigorous physical activity [MVPA]) in isolation, potentially masking their combined effects on outcomes. This study applied latent profile analysis, a person-centred approach, to identify naturally occurring physical behaviour profiles in older adults and examined their associations with physical fitness and physical function. This cross-sectional study included 1,095 older Portuguese adults (≥ 65 years; 765 females). SB, LPA, and MVPA were assessed using accelerometry (Actigraph; Pensacola, Florida) on the right hip and expressed as percentages of waking time. Latent profile analysis was used to identify distinct profiles based on these percentages. Physical fitness was evaluated by Senior Fitness Test battery and handgrip strength. Physical function was assessed using the 12-item Composite Physical Function questionnaire. Generalised linear models, adjusted for age, were used to examine associations between profiles and outcomes. Three distinct profiles emerged for both sexes: "balanced movers" (~ 50% SB, ~ 46% LPA, ~ 4% MVPA), "intermediate movers" (~ 66% SB, ~ 32% LPA, ~ 2% MVPA), and "highly sedentary" (~ 80% SB, ~ 20% LPA, < 1% MVPA). Compared to the "highly sedentary" groups, both "balanced movers" and "intermediate movers" demonstrated better performance on most physical fitness tests and reported higher physical function. Notably, "intermediate movers", performed similarly to "balanced movers" in most measures. Distinct physical behaviour profiles exist among older Portuguese adults. Profiles characterised by lower SB and higher LPA, even when not fully meeting MVPA recommendations ("intermediate movers"), were associated with better physical fitness and physical function compared to the "highly sedentary" profile. This underscores the importance of reducing SB and promoting LPA along with MVPA. By uncovering these behavioural profiles among older adults, latent profile analysis provides valuable insights to guide the development of more personalized interventions for healthy ageing. Show less

Atherosclerotic vascular changes can begin during childhood, providing risk for cardiovascular disease (CVD) in adulthood. Identifiable risk factors such as dyslipidemia accelerate this process for some children. The apolipoprotein B (APOB) gene could help explain the inter-individual variability in lipid levels among young individuals and identify groups that require greater attention to prevent CVD. A cross-sectional study was conducted with school-aged children and adolescents in Ouro Preto, Minas Gerais. The study evaluated cardiovascular risk factors' variables and XbaI polymorphism in the APOB gene for associations with increased total cholesterol (TC). The prevalence of increased TC was notably high, reaching 68.9% in the study population. Carriers of the variant T allele were 1.45 times more likely to develop increased TC in a dominant model (1.09-1.94, p = 0.011). After adjustments, excess weight and a family history of dyslipidemia interacted significantly with XbaI polymorphism in increased TC, resulting in Odds Ratio of 1.74 (1.11-2.71, p = 0.015) and 2.04 (1.14-3.67, p = 0.016), respectively. The results suggest that XbaI polymorphism in the APOB gene may affect the lipid profile of Brazilian children and adolescents and could contribute to the CVD in adulthood. Show less

What is the contribution of genetic defects in Portuguese patients with congenital hypogonadotropic hypogonadism (CHH)? Approximately one-third of patients with CHH were found to have a genetic cause for their disorder, with causal pathogenic and likely pathogenic germline variants distributed among 10 different genes; cases of oligogenic inheritance were also included. CHH is a rare and genetically heterogeneous disorder characterized by deficient production, secretion, or action of GnRH, LH, and FSH, resulting in delayed or absent puberty, and infertility. Genetic screening was performed on a cohort of 81 Portuguese patients with CHH (36 with Kallmann syndrome and 45 with normosmic hypogonadotropic hypogonadism) and 263 unaffected controls. The genetic analysis was performed by whole-exome sequencing followed by the analysis of a virtual panel of 169 CHH-associated genes. The main outcome measures were non-synonymous rare sequence variants (population allele frequency <0.01) classified as pathogenic, likely pathogenic, and variants of uncertain significance (VUS). A genetic cause was identified in 29.6% of patients. Causal pathogenic and likely pathogenic variants were distributed among 10 of the analysed genes. The most frequently implicated genes were N/A. The identification of a large number of VUS presents challenges in interpretation and these may require reclassification as more evidence becomes available. Non-coding and copy number variants were not studied. Functional studies of the variants were not undertaken. This study highlights the genetic heterogeneity of CHH and identified several novel variants that expand the mutational spectrum of the disorder. A significant proportion of patients remained without a genetic diagnosis, suggesting the involvement of additional genetic, epigenetic, or environmental factors. The high frequency of VUS underscores the importance of cautious variant interpretation. These findings contribute to the understanding of the genetic architecture of CHH and emphasize the need for further studies to elucidate the underlying mechanisms and identify additional causes of CHH. This research was funded by the Portuguese Foundation for Science and Technology (grant numbers PTDC/SAU-GMG/098419/2008, UIDB/00709/2020, CEECINST/00016/2021/CP2828/CT0002, and 2020.04924.BD) and by Sidra Medicine-a member of the Qatar Foundation (grant number SDR400038). The authors declare no competing interests. Show less