Background – Young patients with Cushing Syndrome (CS) may develop cognitive and behavioral alterations during disease course. Methods - To define the implications of CS on the brain, we analyzed consecutive MRI scans of patients with (n=29) vs. without CS (n=8). Multiple brain compartments were processed for total and gray/white matter (GM/WM) volumes and intensities; and cortical volume, thickness and surface-area. Dynamics (last/baseline scans ratio per parameter) were analyzed vs. cortisol levels and CS status...

Objective: To evaluate safety and tolerability and exploratory efficacy endpoints for gaboxadol (OV101) compared with placebo in individuals with Angelman syndrome (AS). Methods: Gaboxadol is a highly selective orthosteric agonist that activates γ-subunit–containing extrasynaptic γ-aminobutyric acid type A (GABAA) receptors. In a multicenter, double-blind, placebo-controlled, parallel-group trial, adolescent and adult individuals with a molecular diagnosis of AS were randomized (1:1:1) to 1 of 3 dosing regimens for a duration of 12 weeks: placebo morning dose...

Context & Objective Lacunar strokes and diabetes are risk factors for cognitive dysfunction. Elucidating modifiable risk factors for cognitive dysfunction has large public health implications. One factor may be glycemic status, as measured by glycosylated hemoglobin (A1C). The aim of this study was to assess the relationship between A1C and cognitive function in lacunar stroke patients with diabetes. Design, Setting, Participants & Outcomes The effect of baseline and follow-up A1C on the baseline and the...

Purpose: To compare the deoxyribonucleic acid (DNA) methylation signature of neuroendocrine tumors (NETs) by primary tumor site and inherited predisposition syndromes von Hippel–Lindau disease (VHL) and multiple endocrine neoplasia type 1 (MEN1). Methods Genome-wide DNA methylation (835 424 CpGs) of 96 NET samples. Principal components analysis (PCA) and unsupervised hierarchical clustering analyses were used to determine DNA methylome signatures. Results: Hypomethylated CpGs were significantly more common in VHL-related versus sporadic and MEN1-related NETs (P <...