α-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an EIF4G1 gene mutation.

The EIF4G1 gene has been considered an autosomal dominant cause of Parkinson disease (PD), even if its role is still debated. The objective of this study was to describe the phenotype and α-synuclein distribution in peripheral tissues in 2 related PD patients (mother and daughter), who are carriers of the same variant in exon 10 of EIF4G1 (c.1216G>A, p.

Endothelial Dysfunction and Oxidative Stress in Patients with Severe Coronary Artery Disease: Does Diabetes Play a Contributing Role?

: Endothelial dysfunction (ED) and oxidative stress play major contributions in the initiation and progression of atherosclerosis. Diabetes is a pathological state associated with endothelial damage and enhanced oxidative stress. This study evaluated endothelial dysfunction and oxidative stress in patients with severe coronary artery disease (CAD) undergoing coronary artery bypass graft (CABG) surgery, comparing those with and without type 2 diabetes mellitus (T2DM).

RNA-Based Next-Generation Sequencing in Non-Small Cell Lung Cancer patients: data from Campania, Italy.

Objective: ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations represent fundamental predictive biomarkers for advanced non-small cell lung cancer (NSCLC) patients to ensure the best treatment choice. In this scenario, RNA-based NGS approach has emerged as an extremely useful tool for detecting these alterations. In this study, we report our NGS molecular records on ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations detected by using a narrow RNA-based NGS panel, namely SiRe fusion.

Health-related Quality of Life in children and adolescents treated for acute lymphoblastic leukaemia (ALL), compared with healthy peers: a longitudinal study of early survivorship.

Purpose: Survival for childhood Acute Lymphoblastic Leukaemia (ALL) has surpassed 90%, making quality of survival an important endpoint in treatment outcomes. This study examined health-related quality of life (HRQoL) trajectories in early survivorship for patients post-ALL treatment compared with a matched group of healthy peers, and explored the association of individual factors (age, sex) and treatment intensity with HRQoL outcomes.

Methods: Eighty-three paediatric patients aged 4-16 years who recently completed treatment for ALL were recruited to the study, alongside 53 age- and sex-matched healthy children.

A Dual Challenge: Endocarditis in a Patient with Familial Thoracic Aortic Aneurysm-Case Report and Literature Review.

: Thoracic aortic aneurysms (TAAs) are potentially life-threatening medical conditions, and their etiology involves both genetic and multiple risk factors. endocarditis is one of the most frequent causes of blood culture-negative infective endocarditis (BCNIE) in patients with previous cardiac surgery. Our review aims to emphasize the importance of genetic testing in patients with thoracic aortic aneurysms but also the importance of additional testing in patients with suspected endocarditis whose blood cultures remain negative.