Vicuna, L., Norambuena, T., Miranda, J. P., Pereira, A., Mericq, V., Ongaro, L., et al. (2021). Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys. Hum. Genet., 140(12), 1651–1661.
Abstract: Puberty is a complex developmental process that varies considerably among individuals and populations. Genetic factors explain a large proportion of the variability of several pubertal traits. Recent genome-wide association studies (GWAS) have identified hundreds of variants involved in traits that result from body growth, like adult height. However, they do not capture many genetic loci involved in growth changes over distinct growth phases. Further, such GWAS have been mostly performed in Europeans, but we do not know how these findings relate to other continental populations. In this study, we analyzed the genetic basis of three pubertal traits; namely, peak height velocity (PV), age at PV (APV) and height at APV (HAPV). We analyzed a cohort of 904 admixed Chilean children and adolescents with European and Mapuche Native American ancestries. Height was measured on roughly a 6-month basis from childhood to adolescence between 2006 and 2019. We predict that the difference in HAPV between an European and a Mapuche adolescent is 4.3 cm higher in the European (P = 0.042) and APV is 0.73 years later for the European compared with the Mapuche adolescent on average (P = 0.023). Further, by performing a GWAS on 774, 433 single-nucleotide polymorphisms, we identified a genetic signal harboring 3 linked variants significantly associated with PV in boys (P < 5 x 10(-8)). This signal has never been associated with growth-related traits.
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Contreras-Raggio, J. I., Arancibia, C. T., Millan, C., Ploeg, H. L., Aiyangar, A., & Vivanco, J. F. (2022). Height-to-Diameter Ratio and Porosity Strongly Influence Bulk Compressive Mechanical Properties of 3D-Printed Polymer Scaffolds. Polymers, 14(22), 5017.
Abstract: Although the architectural design parameters of 3D-printed polymer-based scaffolds-porosity, height-to-diameter (H/D) ratio and pore size-are significant determinants of their mechanical integrity, their impact has not been explicitly discussed when reporting bulk mechanical properties. Controlled architectures were designed by systematically varying porosity (30-75%, H/D ratio (0.5-2.0) and pore size (0.25-1.0 mm) and fabricated using fused filament fabrication technique. The influence of the three parameters on compressive mechanical properties-apparent elastic modulus E-app, bulk yield stress sigma(y) and yield strain epsilon(y)-were investigated through a multiple linear regression analysis. H/D ratio and porosity exhibited strong influence on the mechanical behavior, resulting in variations in mean E-app of 60% and 95%, respectively. sigma(y) was comparatively less sensitive to H/D ratio over the range investigated in this study, with 15% variation in mean values. In contrast, porosity resulted in almost 100% variation in mean sigma(y) values. Pore size was not a significant factor for mechanical behavior, although it is a critical factor in the biological behavior of the scaffolds. Quantifying the influence of porosity, H/D ratio and pore size on bench-top tested bulk mechanical properties can help optimize the development of bone scaffolds from a biomechanical perspective.
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