A5094020907- Cardiac electrophysiology and arrhythmias
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Cardiomyopathy and Myosin Studies
- Urticaria and Related Conditions
- Muscle Physiology and Disorders
- Ion channel regulation and function
- Cardiac pacing and defibrillation studies
- Cardiovascular Effects of Exercise
- Mast cells and histamine
- Neuroscience and Neuropharmacology Research
- Neurogenetic and Muscular Disorders Research
University of Foggia
2024-2025
Inherited arrhythmia syndromes include several different diseases, as well Brugada syndrome (BrS), long QT (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and short (SQTS). They represent, together with arrhythmogenic right dysplasia/cardiomyopathy (ARVD/C), an important cause of sudden cardiac death in the young. Most are inherited autosomal dominant manner, genetic studies suggested.: to report spectrum variations clinical phenotype Italian cohort confirmed...
Hereditary angioedema (HAE) is a rare genetic disorder that causes swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. The SERPING1 gene, encoding C1-INH, determines wide range clinical symptoms associated with CI-INH deficient HAE. C1-INH regulates enzymes involved bradykinin production, leading to increased vascular permeability and angioedema. most prevalent cause this condition either deficiency dysfunction C1-INH. A subset patients exhibits third form HAE...
Dystrophin (DMD) gene mutations are associated with skeletal muscle diseases such as Duchenne and Becker Muscular Dystrophy (BMD) X-linked dilated cardiomyopathy (XL-DCM). To investigate the molecular basis of DCM in a 37-year-old woman. Clinical genetic investigations were performed. Genetic testing was performed whole exome sequencing (WES) using Illumina platform. According to standard protocol, variant found by WES confirmed all available members family bi-directional capillary Sanger...
Brugada syndrome (BrS) is an inherited primary channelopathy associated with the risk of ventricular fibrillation (VF) and sudden cardiac death in a structurally normal heart. The aim this study was to clinically genetically evaluate large family severe autosomal dominant syndrome. Clinical genetic studies were performed. Genetic analysis conducted NGS technologies (WES) using Illumina instrument. According standard procedure, variants found by WES confirmed all available families Sanger...