Publications by authors named "R Gioia"
Article Synopsis
- Cardiac arrest (CA) is a critical condition, and survivors often experience post-cardiac arrest syndrome (PCAS), making echocardiograms essential for evaluating their condition.
- The study reviews existing literature to highlight the significance of transthoracic and transesophageal echocardiograms during and after cardiac arrest.
- The conclusion emphasizes that these echocardiogram techniques play crucial roles in diagnosing and predicting outcomes for patients during the CA phase and beyond.
Objective: To report variants in 26 candidate genes and describe the clinical features of Italian patients with keratoconus (KC).
Subjects/methods: Sixty-four patients with a confirmed diagnosis of KC were enrolled in this genetic association study. Patients were classified into two study groups according to whether they had a confirmed diagnosis of progressive or stable KC.
Keratoconus is a corneal disease which results in progressive thinning and protrusion of the cornea leading to irregular astigmatism. The purpose of this study was to evaluate longitudinal changes in corneal volume (CV) occurring over time in keratoconus eyes. Consecutive patients affected by keratoconus were evaluated by means of anterior segment-optical coherence tomography (AS-OCT) at two different time points: baseline (T0) and after 1 year (T1).
View Article and Find Full Text PDFArticle Synopsis
- * The R451C mutation leads to misfolding of the protein, causing it to be stuck in the endoplasmic reticulum (ER), negatively impacting synaptic activity and social behavior.
- * A study found that certain glucocorticoids, especially dexamethasone (DEX), can help improve the stability and surface trafficking of the misfolded protein, suggesting a possible treatment strategy for autism-related mutations.
Mitofusin-2 (MFN2) is an outer mitochondrial membrane protein essential for mitochondrial networking in most cells. Autosomal dominant mutations in the MFN2 gene cause Charcot-Marie-Tooth type 2A disease (CMT2A), a severe and disabling sensory-motor neuropathy that impacts the entire nervous system. Here, we propose a novel therapeutic strategy tailored to correcting the root genetic defect of CMT2A.
View Article and Find Full Text PDF