A5019281889- Cardiovascular Effects of Exercise
- Cardiomyopathy and Myosin Studies
- Sports injuries and prevention
- Particle Detector Development and Performance
- Muon and positron interactions and applications
- Genetics and Physical Performance
- Cardiac electrophysiology and arrhythmias
- Congenital Heart Disease Studies
- Radiation Detection and Scintillator Technologies
- Viral Infections and Immunology Research
- Particle physics theoretical and experimental studies
- Particle accelerators and beam dynamics
- Cardiac Arrhythmias and Treatments
- Cardiac Structural Anomalies and Repair
- Cardiovascular Function and Risk Factors
- Vector-Borne Animal Diseases
- Congenital heart defects research
- Tracheal and airway disorders
- 3D Surveying and Cultural Heritage
- Gun Ownership and Violence Research
University of Padua
2012-2024
Istituto Nazionale di Fisica Nucleare, Sezione di Padova
2018-2024
Istituto Nazionale di Fisica Nucleare, Sezione di Milano Bicocca
2018
Istituto Nazionale di Fisica Nucleare, Sezione di Ferrara
2018
Istituto Nazionale di Fisica Nucleare, Sezione di Roma I
2018
European Organization for Nuclear Research
2018
Istituto Nazionale di Fisica Nucleare, Sezione di Trieste
2018
University of Trieste
2018
Istituto Nazionale di Fisica Nucleare, Laboratori Nazionali di Frascati
2018
University of Insubria
2018
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited characterized by progressive myocardial atrophy with fibrofatty replacement. The recent identification of causative mutations in plakoglobin, desmoplakin (DSP), and plakophilin-2 (PKP2) genes led to the hypothesis that ARVC due desmosomal defects. Therefore, desmoglein-2 (DSG2), only desmoglein isoform expressed cardiac myocytes, was screened subjects ARVC.In a series 80 unrelated probands, 26 carried mutation DSP (16%),...
Background— Mutations in genes encoding for desmosomal proteins are the most common cause of arrhythmogenic right ventricular cardiomyopathy (ARVC). We assessed value genotype prediction lifetime major arrhythmic events and sudden cardiac death (SCD) gene–related ARVC. Methods Results— The overall study population included 134 gene mutation carriers (68 men; median age 36 years [22–52]) from 44 consecutive ARVC families undergoing comprehensive genetic screening. probability experiencing a...
AimsArrhythmogenic right ventricular cardiomyopathy (ARVC) is a major cause of juvenile sudden death and characterized by fibro-fatty replacement the ventricle.Mutations in several genes encoding desmosomal proteins have been identified ARVC.We speculated that aT-catenin, encoded CTNNA3, might also carry mutations ARVC patients.Alpha-T-catenin binds plakophilins this binding contributes to formation area composita, which strengthens cell-cell adhesion contractile cardiomyocytes. Methods...
Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement. We screened 54 ARVC probands for mutations desmocollin-2 (DSC2), the only desmocollin isoform expressed cardiac tissue.Mutation screening was performed denaturing high-performance liquid chromatography and direct sequencing. To evaluate pathogenic...
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease carrying a risk of sudden death. Information about the clinical features during childhood and age at onset scanty.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease characterized by fibrofatty replacement of the myocardium and arrhythmias, associated with mutations in desmosomal genes. Only a missense mutation DES gene coding for desmin, intermediate filament protein expressed cardiac skeletal cells, has been recently ARVC. We screened 91 ARVC index cases (53 negative genes additional 38 carrying mutations) mutations. Two rare variants were identified. The...
Arrhythmogenic cardiomyopathy (AC) is one of the most common inherited cardiomyopathies, characterized by progressive fibro-fatty replacement in myocardium. Clinically, AC manifests itself with ventricular arrhythmias, syncope, and sudden death shows wide inter- intra-familial variability. Among causative genes identified so far, those encoding for desmosomal proteins plakophilin-2 (PKP2), desmoplakin (DSP), desmoglein-2 (DSG2) are commonly mutated. So little known about molecular...
Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disease associated with point mutations in genes encoding for cardiac desmosome proteins. Conventional mutation screening positive ≈50% of probands. Copy number variations (CNVs) have recently been linked to AC pointing the need determine prevalence CNVs desmosomal and evaluate penetrance by cosegregation analysis family members.A total 160 genotype-negative probands 5 conventional underwent multiplex ligation-dependent probe...
<h3>Background</h3> Mutations in the cardiac myosin binding protein C (<i>MYBPC3</i>) gene account for a significant proportion of patients affected with hypertrophic cardiomyopathy (HCM). The aim this study was to evaluate penetrance and impact frequent founder <i>MYBPC3</i> mutation on HCM clinical expression prognosis. <h3>Methods results</h3> Mutation screening performed 97 probands. Nineteen (19.5%) resulted be carriers p.F305Pfs*27 other 45 were identified during evaluation 14...
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by progressive fibro-fatty myocardial replacement, ventricular arrhythmia, heart failure, and sudden death. Causative mutations can be identified in 60% of patients, most them are found genes encoding mechanical junction proteins the intercalated disk.Whole-exome sequencing was performed on proband ACM family. Sanger used to screen for tight protein 1 ( TJP1) gene unrelated patients. Predictions local structure...
The design of a future multi-TeV muon collider needs new ideas to overcome the technological challenges related production, cooling, accumulation and acceleration. In this paper layout positron driven source known as Low EMittance Muon Accelerator (LEMMA) concept is presented. beam, stored in ring with high energy acceptance low emittance, extracted multi-target system, produce pairs at threshold. This solution alleviates issues power deposited integrated Peak Energy Density Deposition...
Abstract The BLEMAB European project (BLast furnace stack density Estimation through online Muon ABsorption measurements), the evolution of previous Mu-Blast project, is designed to investigate in detail capability muon radiography techniques applied imaging inner zone a blast furnace. In particular, goal this collaboration characterize internal region (so-called cohesive zone) where slowly downward-moving material begins soften and melt, which plays an important role performance itself....
Heterozygous mutations in the transcription factor Nkx2.5 indicate a genetic cause for congenital heart diseases (CHDs) human beings. The present study aimed to assess prevalence of NKX2.5 Italian patients with sporadic non-syndromic and syndromic CHD, as well appraise any genotype-phenotype correlations.One hundred affected CHD (90 had 10 CHD) were screened mutations. coding region flanking regions involved gene splicing CSX/NKX2.5 amplified from genomic DNA by PCR, mutational analysis was...
The MUTOMCA (MUon TOMography for shielding CAsks) project investigates the suitability of muon tomography reverification spent fuel casks.Spent casks are stored, decades, in dedicated locations and under constant surveillance by international agencies through unattended monitoring equipment.In hypothetical case that these instruments would temporarily fail, thus leading to a loss Continuity Knowledge (CoK), enclosed self-shielding be required.The is particularly challenging conventional...
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic cardiac disease characterized by progressive myocardial fibro-fatty replacement, arrhythmias and risk of sudden death. Its diagnosis challenging often it achieved after onset or postmortem. In this study, we sought to identify circulating microRNAs (miRNAs) differentially expressed in ARVC patients compared healthy controls. the pilot screened expression 754 miRNAs from 21 20 After filtering considering log fold-change...