4 Works

Computerized analysis of brain MRI parameters dynamics in young patients with Cushing Syndrome – a case-control study

Amit Tirosh, Harish RaviPrakash, Georgios Z Papadakis, Christina Tatsi, Elena Belyavskaya, Lyssikatos Charalampos, Maya B. Lodish, Ulas Bagci & Constantine A Stratakis
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...

The STARS phase 2 study: a randomized controlled trial of gaboxadol in Angelman syndrome

Lynne Bird, Cesar Ochoa-Lubinoff, Wen-Hann Tan, Gali Heimer, Raun Melmed, Amit Rakhit, Jeannie Visootsak, Matthew During, Rebecca Burdine, Christina Holcroft, Alexander Kolevzon & Ronald Thibert
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...

The relationship between glucose control & cognitive function in people with diabetes after a lacunar stroke: supplementary material

Tali Cukierman-Yaffe
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...

Distinct DNA methylation signatures in neuroendocrine tumors specific for primary site and inherited predisposition

Amit Tirosh, Jonathan Keith Killian, David Petersen, Yuelin Jack Zhu, Robert L Walker, Jenny E Blau, Naris Nilubol, Dhaval Patel, Sunita K Agarwal, Lee Scott Weinstein, Paul Meltzer & Electron Kebebew
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 <...

Registration Year

  • 2020

Resource Types

  • Dataset


  • Sheba Medical Center
  • Massachusetts General Hospital
  • Rady Children's Hospital-San Diego
  • National Institute of Diabetes and Digestive and Kidney Diseases
  • University of Crete
  • Boston Children's Hospital
  • Stanford University
  • Princeton University
  • Maryland Oncology Hematology
  • National Institutes of Health