Eginition Hospital

Exploring transcriptomic and genomic latent variable correction approaches in differential expression analysis

Abstract Background Differential expression analysis is a central tool for studying the biological processes altered in human diseases via transcriptomic signatures. However, transcriptomic datasets are systematically confounded by latent variables from two distinct sources: unme...

Polygenic Risk Scores in Alzheimer’s Disease: A Cross-Scale View from Genes to Brain and Behavior

Alzheimer’s disease (AD) is a genetically complex disorder in which inherited susceptibility is distributed across rare high-impact variants, the apolipoprotein E (APOE) locus, and a broad polygenic background of common risk alleles. Polygenic risk scores (PRSs) provide a quantit...

Longitudinal dynamics and clinical significance of acetylcholine receptor blocking antibodies in myasthenia gravis

OBJECTIVES: To investigate the longitudinal clinical relevance of acetylcholine receptor (AChR) blocking antibodies in myasthenia gravis (MG). METHODS: We prospectively studied 47 AChR-positive MG patients with 121 serial antibody measurements over a mean follow-up of 2.8 years....

Statin treatment strategy and LDL cholesterol response associate with circulating Amyloid beta 1-40 in a prospective dyslipidemia cohort.

Background: Circulating amyloid beta 1-40 (Aβ40), a pro-inflammatory and pro-atherogenic peptide, is an emerging biomarker in atherosclerotic cardiovascular disease (ASCVD), but evidence on its modulation by cardiovascular therapies is limited and conflicting. We explored associa...

Genetic Architecture of Synaptic Failure in Dementia with Lewy Bodies: From α-Synuclein Proteoforms to GBA1-Mediated Plasticity Deficits

Dementia with Lewy bodies (DLB) is increasingly conceptualised not merely as a disorder of neuronal death but as a primary synaptopathy in which the functional collapse of synaptic transmission and plasticity precedes, and predicts, neurodegeneration and clinical decline. Two gen...

Interleukins and Cardiovascular Disease

Interleukins are important inflammatory cytokines involved in cardiovascular (CV) disease (CVD) pathogenesis, particularly in atherosclerosis, by regulating inflammation, endothelial dysfunction, plaque formation, thrombosis, immune responses, and hematopoiesis. High levels of in...