Publications by authors named "C R Skinner"
Objective: The purpose of this study was to determine whether gray matter volume and diffusion-based metrics in associated white matter changed in breachers who had neuroimaging performed at two timepoints. A secondary purpose was to compare these changes in a group who had a one-year interval between their imaging timepoints to a group that had a two-year interval between imaging.
Methods: Between timepoints, clusters with significantly different gray matter volume were used as seeds for reconstruction of associated structural networks using diffusion metrics.
Article Synopsis
- RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
- The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
- Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
Incidence of serious complications following screening colonoscopy in adults aged 76 to 85 years old.
Cancer Epidemiol Biomarkers Prev
November 2024
Background: Screening colonoscopy harms data are limited for adults ages 76-85 years.
Methods: We conducted a retrospective cohort study of screening colonoscopies vs. fecal immunochemical tests (FIT) and general population matched comparators aged 76-85 within 3 integrated healthcare systems (2010-2019).
Introduction: Awareness, access, and use of clinical and direct-to-consumer (DTC) genetic tests has increased in recent years with documented disparities in these services. We provide updated data on test awareness and use, and report novel data on motivations and methods for accessing genetic tests.
Methods: Nationally representative data from the 2022 Health Information National Trends Survey (HINTS 6) were used to assess awareness and use of ancestry, personal trait, specific disease, and carrier testing by sociodemographic characteristics, examine reasons for undergoing tests, and methods of accessing them.