A5015005805- Genomics and Rare Diseases
- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- Muscle Physiology and Disorders
- Cardiomyopathy and Myosin Studies
- CRISPR and Genetic Engineering
- RNA Research and Splicing
- Congenital heart defects research
- Receptor Mechanisms and Signaling
- Antifungal resistance and susceptibility
- Genomic variations and chromosomal abnormalities
- Glycogen Storage Diseases and Myoclonus
- Lysosomal Storage Disorders Research
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Immunodeficiency and Autoimmune Disorders
- RNA and protein synthesis mechanisms
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Telemedicine and Telehealth Implementation
- Cardiovascular Function and Risk Factors
- Cardiac Arrhythmias and Treatments
- RNA Interference and Gene Delivery
- Cellular transport and secretion
- BRCA gene mutations in cancer
University of Ferrara
2020-2024
University of Perugia
2020
Abstract Background The development of e-health technologies for teleconsultation and exchange knowledge is one the core purposes European Reference Networks (ERNs), including ERN EURO-NMD rare neuromuscular diseases. Within ERNs, Clinical Patient Management System (CPMS) a web-based platform that seeks to boost active collaboration within across network, implementing data sharing. Through CPMS, it possible both discuss patient cases make patients’ available registries databases in secure...
Since 72% of rare diseases are genetic in origin and mostly paediatrics, newborn screening represents a diagnostic "window opportunity". Therefore, many gNBS initiatives started different European countries. Screen4Care is research project, which resulted joint effort between the Union Commission Federation Pharmaceutical Industries Associations. It focuses on artificial intelligence-based tools will be applied to large population about 25.000 infants. The neonatal strategy based targeted...
Homozygosis mutation of the scavenger receptor class B member 2 gene (SCARB2, OMIN*602257) causes action myoclonus renal failure (AMRF) syndrome, an ultrarare autosomal recessive disease that combines progressive epilepsy and focal glomerulosclerosis.1 SCARB2 encodes lysosomal integral membrane protein type (LIMP-2), which acts as a for β-glucocerebrosidase (GCase) facilitates its transport from endoplasmic reticulum to lysosomes.2 This glycosphingolipid pathway is also involved in Gaucher's...
Abstract Mutations in the MBOAT7 gene have been described 43 patients, belonging to 18 families, showing nonspecific clinical features (intellectual disability [ID], seizures, microcephaly or macrocephaly, and mild moderate cerebellar atrophy) that make diagnosis difficult. Here we report first Italian patient, a 22.5‐year‐old female, one of oldest reported, born apparently consanguineous parents. She shows severe ID, aggressive outbursts, hyperphagia. We also documented progressive atrophy...
Background. Brugada syndrome (BrS) is an autosomal dominantly inherited cardiac disease characterized by “coved type” ST-segment elevation in the right precordial leads, high susceptibility to ventricular arrhythmia and a family history of sudden death. The SCN5A gene, encoding for voltage-gated sodium channel Nav1.5, accounts ~20–30% BrS cases considered clinically relevant. Methods. Here, we describe clinical findings two Italian families affected provide functional characterization novel...
Abstract To gain insight on dystrophin (DMD) gene transcription dynamics and spatial localization, we assayed the DMD mRNA amount defined its compartmentalization in myoblasts, myotubes, skeletal muscle biopsies of Duchenne muscular dystrophy patients. Using droplet digital PCR, Real-time RNAscope situ hybridization, showed that transcript is extremely reduced both patients’ cells mutation-related differences occur. We also found that, compared to controls, dramatically cytoplasm, as up 90%...
Brugada syndrome (BrS) is an inherited arrhythmic disease characterized by a coved ST-segment elevation in the right precordial electrocardiogram leads (type 1 ECG pattern) and associated with risk of malignant ventricular arrhythmias sudden cardiac death. In order to assess predictive value Shanghai Score System for presence SCN5A mutation clinical practice, we studied cohort 125 patients spontaneous or fever/drug-induced BrS type pattern, variably symptoms positive family history.The items...
Brugada syndrome (BrS) is an inherited disorder with high allelic and genetic heterogeneity clinically characterized by typical coved-type ST segment elevation at the electrocardiogram (ECG), which may occur either spontaneously or after provocative drug testing. BrS classically described as arrhythmic condition occurring in a structurally normal heart associated risk of ventricular fibrillation sudden cardiac death (SCD). We studied five patients spontaneous drug-induced type 1 ECG pattern,...
Left ventricular noncompaction (LVNC) is a structural abnormality of the left ventricle, usually described as an isolated condition, or sometimes associated with other cardiac diseases. LVNC generally asymptomatic, although it may present conduction disorders, arrhythmias, and heart failure. Here, we case patient who came to our attention severe phenotype advanced AV disorder, supraventricular arrhythmias at young age, in which novel MIB1, likely pathogenic, variation has been identified.