Centre for Biomedical Network Research on Rare Diseases

Tumor Necrosis is Associated with an Increased Metastatic and Cardiovascular Risk in Paragangliomas: A Single-Center Series and Meta-Analysis Comparing Necrosis and Cystic Degeneration in Paragangliomas

Abstract Paragangliomas (PGLs) are rare neural crest–derived tumors with highly variable morphology and clinical behavior. These tumors can present with cystic and necrotic alterations that may influence the clinical presentation of affected patients. However, prevalence and clin...

Protocol for a feasibility randomized controlled pilot trial evaluating a teacher program to support preschool children with autism and language delay

Abstract Background Early intervention in naturalistic settings is essential for supporting young children with difficulties within the autism spectrum. In recent decades, there has been an increasing inclusion of children with developmental problems in mainstream schools. Howeve...

Cell Type‐Specific Extracellular Vesicles in Mouse Brain: Proteomic Signatures Highlight Astrocytic GlialCAM Network and GPCR Enrichment

Extracellular vesicles (EVs) mediate intercellular communication in the central nervous system (CNS) and are emerging as biomarkers of brain health and disease. However, the molecular composition of cell type-specific brain EVs, particularly astrocyte-derived EVs (ADEVs), remains...

Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders.

) gene, which is associated with body mass index, cardiovascular health, and metabolic and respiratory traits. Taken together, our findings show that CIRdb presents a valuable resource of exome-wide genetic variation in a population at the edge of Southwestern European genetic di...

Cord blood DNA methylation differences associated with gestational diabetes and partial consistency with maternal methylation patterns

Gestational diabetes mellitus (GDM) increases offspring cardiometabolic risk, potentially through intrauterine epigenetic programming. We aimed to characterize GDM-associated DNA methylation differences in cord blood, evaluate their consistency with previously identified maternal...

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...

Technical note: reconstructing dose distributions from manually planned electron boosts in breast radiotherapy

Purpose In breast radiotherapy, delivery of manually-calculated electron boosts limits retrospective dose–response analyses as dose distribution is unavailable. This work evaluates the feasibility of reconstructing dose distributions from manually planned electron boosts in breas...

Repetitive Transcranial Magnetic Stimulation for Cocaine Use Disorder: An Observational Study

Background: Cocaine use disorder (CUD) presents high relapse rates and limited treatment options. Repetitive transcranial magnetic stimulation (rTMS) has shown promise, but evidence in clinical practice is scarce. Methods: We conducted a naturalistic retrospective study using med...