Hospital Universitari i Politècnic La Fe

Stage-Specific Gene Expression Profiles in Multiple Sclerosis Cortical Lesions Identified via Spatial Transcriptomics

<title>Abstract</title> Background and Objectives Multiple sclerosis (MS) is a chronic inflammatory disease characterized by demyelinating lesions in the central nervous system. While animal models have provided valuable insights into lesion development, human-based studies—parti...

Integrated multiomics analysis reveals metabolic and microbiome alterations in Wilson disease

Wilson disease (WD) is a rare autosomal recessive disorder caused by mutations in ATP7B , which encodes a copper transporter. Abnormal ATP7B function leads to copper deposition, mainly in the liver and brain, resulting in hepatic, neurological, and psychiatric impairments. Metabo...

Burden, perception of stigma, and gender differences among informal care partners of individuals with mild cognitive impairment

Background Caring for individuals with mild cognitive impairment (MCI) is increasingly recognized as a significant clinical challenge. However, the latent burden, driven by perceived stigma and gender-specific vulnerabilities, remains poorly characterized during these early stage...