Mass General Brigham

Functional Activity of TDP-43: A Direct Biomarker for ALS

TDP-43 dysfunction is a defining feature of amyotrophic lateral sclerosis (ALS), yet no biofluid biomarker directly measures its functional activity. We developed a serum-based homogeneous time-resolved FRET (hTR-FRET) assay that quantifies TDP-43 RNA binding activity using synth...

Safety, efficacy and angiographic outcomes of the Lattice flow diverter for intracranial aneurysms: A systematic review and meta-analysis

Introduction The Lattice flow diverter is a novel mechanical balloon-based device designed to enhance wall apposition and optimize aneurysm neck coverage. Yet, its safety, efficacy, and angiographic outcomes have not been systematically evaluated. Methods A systematic review and...

SDHC c.397C>T- Related Pheochromocytomas and Paragangliomas: Insights from an International Study

BACKGROUND: The SDHC c.397C>T (p.Arg133Ter) germline pathogenic variant is present in over 40% of mutation-positive paragangliomas in French-Canadian patients, supporting a founder effect. We aimed to characterize pheochromocytomas and paragangliomas (PPGLs) associated with this...

Papillary Hyperplasia in Autosomal Dominant Polycystic Kidney Disease

Renal cysts in autosomal dominant polycystic kidney disease (ADPKD) frequently harbor small intracystic epithelial proliferations that arise in continuity with the cyst lining and are distinct from other recognized proliferative lesions or well-defined renal tumors and lack a for...