Epileptic encephalopathies are characterized by altered mental status, primarily driven by aggressive and abnormal epileptiform activities in the brain. These conditions often present with intractable seizures associated with progressive neurocognitive decline or stagnation. Mutations in the KCNQ2 gene represent one of the most common genetic causes of neonatal epileptic encephalopathies. This case report describes a rare presentation of a KCNQ2 gain-of-function mutation associated with respiratory dysfunction and non-epileptic myoclonus. This case report describes a rare presentation of a KCNQ2 gain-of-function mutation associated with respiratory dysfunction and non-epileptic myoclonus, with the patient exhibiting an uncommon phenotype of central hypopnea and non-epileptic, stimulus-sensitive myoclonus.

Alcohol dependence or alcohol use disorder is a chronic mental disorder that imposes a heavy global burden. Small extracellular vesicles (EVs) are emerging as a promising source of real-time information about brain status, yet existing studies are predominantly cross-sectional. We aimed to characterize longitudinal changes in EV properties and immunophenotype during alcohol withdrawal treatment. In our study plasma-derived EVs were analyzed and immunophenotyping via flow cytometry was performed to measure the concentrations of vesicle fractions carrying erythrocyte-, platelet-, endothelial-, and neuronal-associated markers in patients undergoing alcohol withdrawal and in healthy volunteers. Patient-derived EVs exhibited greater size heterogeneity, and microscopy images revealed vesicles with altered morphology. Concentrations of EVs bearing NLGN3 were lower in patients. CD62P+ and CD146+ EVs were also less represented in patients. Notably, CD31+ EVs separated into two distinct clusters; their concentrations were higher in patients with a binge drinking pattern but markedly lower in those with a steady pattern. The findings reveal dynamic phenotypic shifts in circulating EVs during alcohol withdrawal. The divergent patterns according to alcohol use history highlight the potential of EV profiling for personalized monitoring and underscore the necessity of longitudinal designs in vesicle-based biomarker research.

Post-traumatic stress disorder (PTSD) is a debilitating psychiatric disorder affecting approximately 3.9% of individuals worldwide over their lifetimes. Since adolescence is characterized by ongoing brain maturation and increased responsiveness to environmental stressors, this developmental stage may provide an important window for PTSD intervention. Growing evidence supports an association between ω-3 polyunsaturated fatty acids (PUFAs), especially docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA), and the restoration of stress-induced neural damage. However, how ω-3 PUFA supplementation during adolescence affects adult susceptibility to PTSD remains poorly understood. Here, we observed significantly reduced DHA and EPA concentrations in the prefrontal cortex (PFC) and serum of PTSD-susceptible rats. Providing 1.2% DHA and EPA in the adolescent diet significantly reduced PTSD-like phenotypes in adulthood, including excessive fear memory retention, depressive-like and anxiety-like behaviors, while also reducing serum levels of proinflammatory cytokines. These phenotypic and inflammatory improvements were associated with changes in the gut microbiome, including its composition and diversity. DHA/EPA supplementation was also linked to alterations in multiple lipid species, with serum phosphatidylcholine levels showing a significant correlation with fear memory expression. Moreover, we observed dysregulation of the PI3K/AKT/mTOR pathway in the PFC of PTSD-like rats, which was less pronounced in DHA/EPA-supplemented animals. Collectively, these findings provide the first evidence relating adolescent ω-3 PUFA status to PTSD-like phenotypes in adulthood. It further identifies that gut microbiota composition, lipid metabolic profiles (notably phosphatidylcholine), and prefrontal PI3K/AKT/mTOR signaling are correlated with these behavioral outcomes, suggesting that these systems may collectively contribute to trauma resilience.

This simulation-based curriculum aimed to improve emergency medicine residents' confidence and knowledge in applying palliative care principles in end-of-life scenarios in the emergency department.