Publications by authors named "Emma C Thompson"
Article Synopsis
- Variants associated with neurodevelopmental impairments in children are complex and challenging to evaluate due to their diverse nature and unclear causes.
- The study highlights a case of a child with neonatal-onset epilepsy and a specific genetic variant (G256W) that impacts ion channel function and leads to reduced cell stability and conduction in nervous tissue.
- The research also establishes a mouse model that exhibits epilepsy and hyperexcitability in brain cells, linking the genetic variant to observable neurological behaviors and suggesting potential wider implications for understanding similar conditions in other patients.
variants in children with neurodevelopmental impairment are difficult to assess due to their heterogeneity and unclear pathogenic mechanisms. We describe a child with neonatal-onset epilepsy, developmental impairment of intermediate severity, and G256W heterozygosity. Analyzing prior KCNQ2 channel cryoelectron microscopy models revealed G256 as a node of an arch-shaped non-covalent bond network linking S5, the pore turret, and the ion path.
View Article and Find Full Text PDFPurpose: Adolescent and young adult female patients receiving myelosuppressive cancer treatments are at risk of abnormal uterine bleeding (AUB). The frequency with which patients with cancer receive menstrual suppression and the agents used have not previously been well-characterized. We studied the rate of menstrual suppression, the effect of suppression on bleeding and blood product utilization, and if there were practice pattern differences between adult and pediatric oncologists.
View Article and Find Full Text PDFInternalized HIV-Related Stigma and Neurocognitive Functioning Among Women Living with HIV.
AIDS Patient Care STDS
September 2022
Article Synopsis
- * It utilizes a comprehensive set of tests to evaluate various cognitive domains, revealing that internalized stigma is linked to poorer performance in neurocognitive tasks.
- * Findings indicate that addressing internalized stigma could be key to improving cognitive health among WLWH, suggesting that further research is needed to explore the long-term effects and other forms of stigma on neurocognitive function.