Publications by authors named "S Cannito"
Background: Brugada syndrome (BrS) is an inherited primary channelopathy syndrome associated with the risk of ventricular fibrillation (VF) and sudden cardiac death in a structurally normal heart.
Aim Of The Study: The aim of this study was to clinically and genetically evaluate a large family with severe autosomal dominant Brugada syndrome.
Methods: Clinical and genetic studies were performed.
Article Synopsis
- Mutations in the dystrophin gene are linked to skeletal muscle diseases, including Duchenne and Becker Muscular Dystrophy and X-linked dilated cardiomyopathy (DCM).
- A 37-year-old woman diagnosed with DCM had a specific mutation (p.Asp3368Gly) identified through whole exome sequencing, which was found to have a potentially harmful impact on the protein's function.
- Genetic testing revealed the mutation occurred de novo, with her 8-year-old son also carrying the same variant, enabling early diagnosis of a related skeletal muscle condition despite him showing no significant symptoms.
Background: Metabolic dysfunction-associated steatotic liver disease (MASLD), previously non-alcoholic fatty liver disease (NAFLD), is a leading cause of chronic liver disease worldwide. In 20%-30% of MASLD patients, the disease progresses to metabolic dysfunction-associated steatohepatitis (MASH, previously NASH) which can lead to fibrosis/cirrhosis, liver failure as well as hepatocellular carcinoma (HCC). Here we investigated the role of histidine-rich glycoprotein (HRG), a plasma protein produced by hepatocytes, in MASLD/MASH progression and HCC development.
View Article and Find Full Text PDFObjective: The serine protease inhibitor SerpinB3 has been described as critical mediator of liver fibrosis and it has been recently proposed as an additional hepatokine involved in NASH development and insulin resistance. Protease Activated Receptor 2 has been identified as a novel regulator of hepatic metabolism. A targeted therapeutic strategy for NASH has been investigated, using 1-Piperidine Propionic Acid (1-PPA), since this compound has been recently proposed as both Protease Activated Receptor 2 and SerpinB3 inhibitor.
View Article and Find Full Text PDFBackground: SerpinB3 is a cysteine protease inhibitor involved in liver disease progression due to its proinflammatory and profibrogenic properties. The polymorphic variant SerpinB3-PD (SB3-PD), presents a substitution in its reactive centre loop, determining the gain of function.
Aims: To disclose the clinical characteristics of a cohort of patients with cirrhosis in relation to the presence of SB3-PD and to assess the effect of this genetic variant on fibrogenic and inflammatory cytokines in vitro.