TREX1 mutations underlie a variety of human diseases, including retinal vasculopathy with cerebral leukoencephalopathy (RVCL or RVCL-S), a catastrophic adult-onset vasculopathy that is often confused with multiple sclerosis, systemic vasculitis, or systemic lupus erythematosus. Patients with RVCL develop brain, retinal, liver, and kidney disease around age 35-55, leading to premature death in 100% of patients expressing an autosomal dominant C-terminally truncated form of TREX1. We previously demonstrated that RVCL is characterized by high levels of DNA damage, premature cellular senescence, and risk of early-onset breast cancer before age 45.
View Article and Find Full Text PDFAbstractMass mortality events provide valuable insight into biological extremes and also ecological interactions more generally. The sea star wasting epidemic that began in 2013 catalyzed study of the microbiome, genetics, population dynamics, and community ecology of several high-profile species inhabiting the northeastern Pacific but exposed a dearth of information on the diversity, distributions, and impacts of sea star wasting for many lesser-known sea stars and a need for integration across scales. Here, we combine datasets from single-site to coast-wide studies, across time lines from weeks to decades, for 65 species.
View Article and Find Full Text PDFAppl Neuropsychol Adult
September 2023
Criminal defendants found incompetent to stand trial (IST) may only be committed for competency restoration if their restoration success is considered likely and when this aim can be met within a "reasonable" period of time. In this study, we evaluated the predictive validity and test accuracy of standardized intelligence testing on the classification of nonrestorability in a sample of 293 male patients adjudicated IST and committed for inpatient restoration. At 90 days, 17.
View Article and Find Full Text PDFBackground: Developmental trauma depending on several factors may lead to later adult health risks and is an increasing public health concern, especially in states with predominantly rural populations. Oklahoma remains one of the states in America with the highest count of adverse childhood experiences (ACEs); therefore, more refined research methods for quantifying ACEs are vital for ensuring proper statewide interventions.
Objective: While data sets already exist at the state level measuring specific ACEs like divorce or child abuse, the state currently lacks a single source for specific ACEs that can incorporate regions to allow for the identification of counties where ACEs are especially high.