Publications by authors named "D Righi"
Inherited cardiac channelopathies are major causes of sudden cardiac death (SCD) in young people. Genetic testing is focused on the identification of single-nucleotide variants (SNVs) by Next-Generation Sequencing (NGS). However, genetically elusive cases can carry copy number variants (CNVs), which need specific detection tools.
View Article and Find Full Text PDFSeveral studies indicate that the development of Alzheimer's disease (AD) has strong interactions with immune mechanisms within the brain, indicating a close association between inflammation in the central nervous system and the progression of neurodegeneration. Despite considerable progress in understanding the inflammatory aspects of AD, several of them remain unresolved. Pro-inflammatory cytokines and microglia are pivotal components in the inflammatory cascade.
View Article and Find Full Text PDFBackground: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive neurodegenerative disorder characterized by neuronal damage. Emerging biomarkers, such as serum neurofilament light chain (sNfL), glial fibrillary acidic protein (sGFAP), and growth differentiation factor-15 (sGDF-15), are currently being studied for their potential use in this disease.
Objectives: This study analyzes the levels of sNfL, sGFAP, and sGDF-15, as well as their relationships, in patients with CJD compared to healthy controls (HC).
Article Synopsis
- RNA-seq is the leading method for identifying gene fusions in non-small cell lung cancer (NSCLC), but managing RNA stability in tissue samples presents challenges that can lead to test failures.
- The study analyzed 140 NSCLC tumor samples and found that factors like higher RNA concentration and lower fragmentation improve RNA-seq success rates.
- Smaller biopsies and freshly stored samples (under 30 days) yield better results, allowing for improved planning in molecular diagnostics for NSCLC.
Article Synopsis
- The study examines long-term arrhythmia incidence in patients who underwent the extracardiac conduit-Fontan procedure for univentricular heart palliation over a follow-up period from 1987 to 2017.
- Out of 353 patients tracked for at least 5 years, 28% experienced arrhythmias, with a notable increase in late tachyarrhythmias after 12 years, particularly affecting those with a systemic right ventricle.
- The findings highlight that extracardiac conduit procedures are linked to a significant risk of arrhythmias over the long term, emphasizing the need for careful monitoring, especially in patients with systemic right ventricle morphology.