For many genetic disorders, there are no specific metabolic biomarkers nor analytical methods suitable for newborn population screening, even where highly effective preemptive treatments are available. The direct measurement of signature peptides as a surrogate marker for the protein in dried blood spots (DBSs) has been shown to successfully identify patients with Wilson Disease (WD) and three life-threatening inborn errors of immunity, X-linked agammaglobulinemia (XLA), Wiskott-Aldrich syndrome (WAS), and adenosine deaminase deficiency (ADAD). A novel proteomic-based multiplex assay to detect these four conditions from DBS using high-throughput LC-MS/MS was developed and validated.
View Article and Find Full Text PDFAll species must partition resources among the processes that underly growth, survival, and reproduction. The resulting demographic trade-offs constrain the range of viable life-history strategies and are hypothesized to promote local coexistence. Tropical forests pose ideal systems to study demographic trade-offs as they have a high diversity of coexisting tree species whose life-history strategies tend to align along two orthogonal axes of variation: a growth-survival trade-off that separates species with fast growth from species with high survival and a stature-recruitment trade-off that separates species that achieve large stature from species with high recruitment.
View Article and Find Full Text PDFPlast Reconstr Surg Glob Open
January 2025
Background: Breast implant surfaces are categorized as smooth or textured. Compared with smooth implants, textured surface implants have a higher risk of breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) but may have a lower risk of capsular contracture (CC). This study aimed to quantify whether survey respondents would be willing to accept a higher risk of BIA-ALCL in exchange for the potential reported benefits of textured breast implants.
View Article and Find Full Text PDFBackground: HIV acquisition among adolescents and young adults (AYA, 15-24 years) is influenced by individual factors, community factors, and public policies and programs. We explored the association of HIV incidence and prevalence with these factors over time among AYA in Rakai, Uganda.
Methods: We examined trends over nine survey rounds (2005-2020) of the Rakai Community Cohort Study (RCCS), an open population-based surveillance cohort of individuals living in 30 continuously followed communities in south-central Uganda (n= 35,938 person rounds).