A5072835604- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Genetics and Neurodevelopmental Disorders
- Cardiac Arrhythmias and Treatments
- Atrial Fibrillation Management and Outcomes
- Cardiovascular Syncope and Autonomic Disorders
- Alzheimer's disease research and treatments
- Cardiovascular Function and Risk Factors
- Cholinesterase and Neurodegenerative Diseases
- Cardiac pacing and defibrillation studies
- Neuroscience and Neuropharmacology Research
- Cardiomyopathy and Myosin Studies
- Heart Rate Variability and Autonomic Control
- Autophagy in Disease and Therapy
- Child Development and Digital Technology
- Epigenetics and DNA Methylation
- Computational Drug Discovery Methods
- Pericarditis and Cardiac Tamponade
- Infective Endocarditis Diagnosis and Management
- Cardiac electrophysiology and arrhythmias
- Protein Tyrosine Phosphatases
- Cystic Fibrosis Research Advances
- Adenosine and Purinergic Signaling
- Medicinal Plants and Neuroprotection
- Vagus Nerve Stimulation Research
IRCCS Eugenio Medea
2023
Bambino Gesù Children's Hospital
2018-2022
University of Rome Tor Vergata
2014-2021
Istituti di Ricovero e Cura a Carattere Scientifico
2020
Associazione Nazionale Medici Cardiologi Ospedalieri
2017
University of Milano-Bicocca
2016
Ospedale Valduce
1995-2007
Western General Hospital
1999
Ninewells Hospital
1999
University of Dundee
1999
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder that can be associated with intellectual disability (ID) and epilepsy (E). The etiology the pathogenesis of this in most cases still to clarified. Several studies have underlined EEG recordings children these clinical pictures are abnormal, however precise frequency abnormalities their relationship pathogenic mechanisms particular epileptic seizures unknown. We retrospectively reviewed 292 routine polysomnographic...
The one-carbon metabolism, also known as methionine-homocysteine cycle, governs the dynamics of DNA methylation, epigenetically regulating gene expression, and has been reported altered in anorexia nervosa (AN) adult patients. aim this study consisted assessing whole-blood methylation adolescent AN patients, its significance relationship to clinical hormonal variables.Whole-blood global was measured incorporation [(3)H]dCTP following HpaII cut 32 females affected by restrictive type compared...
Abstract Rett Syndrome (RTT), which affects approximately 1:10.000 live births, is a X-linked pervasive neuro-developmental disorder caused, in the vast majority of cases, by sporadic mutation Methyl-CpG-binding protein-2 (MeCP2) gene. This transcriptional activator/repressor with presumed pleiotropic activities. The broad tissue expression MeCP2 suggests that it may be involved several metabolic pathways, but molecular mechanisms provoke onset and progression syndrome are largely unknown....
Abstract: Febrile infection-related epilepsy syndrome (FIRES) is a rare catastrophic epileptic encephalopathy with yet undefined etiology, affecting healthy children. It characterized by acute manifestation of recurrent seizures or refractory status epilepticus preceded febrile illness, but without evidence infectious encephalitis. To date, the absence specific biomarkers poses significant diagnostic challenge; nonetheless, early diagnosis very important for optimal management. FIRES mostly...
Aims Patients with atrial flutter are believed to be at lower risk of thromboembolism than patients fibrillation. However, the incidence thrombi and need for anticoagulation in is not well established. Methods Results A prospective observational multicentre study was undertaken assess frequency spontaneous echocontrast prevalence aortic complex atherosclerotic lesions a cohort unselected flutter. We evaluated 134 (102 male, aged 70±9 years); exclusion criteria were history fibrillation,...
To discuss the results of KETASER01 trial and reasons for its failure, particularly in view future studies.
Objective Donepezil (DNPZ) is a drug commonly used for Alzheimer's disease (AD) that may favour T helper 2 phenotype leading to increased naturally occurring auto-antibodies (NAb) against beta-amyloid (Aβ). We hypothesized the involvement of cholinergic receptors [α7-nicotnic acetylcholine receptor (α7nAChR)] expressed on peripheral blood mononuclear cells (PBMC). Methods Fifty patients with mild-to-moderate AD, DNPZ treated (DNPZ+, n = 25) or not (DNPZ−, 25), and 25 matched controls were...
Thromboembolism may complicate electrical cardioversion (ECV) of atrial fibrillation/flutter (AF). The use 3 weeks warfarin before ECV results in a substantial reduction thromboembolic complications. Nevertheless, patients scheduled for subtherapeutic INR levels are common. We sought to assess the prevalence and predictors thrombi affected with sustained AF whom values were detected preceding ECV.Forty-one persistent > or =3 anticoagulation who exhibited last underwent transoesophageal...
The aim of this prospective study was to assess the diagnostic value a sublingual nitroglycerin (NTG) potentiated head-up tilt (HUT) testing protocol in children with unexplained syncope. One hundred and sixty-four consecutive paediatric patients syncope unknown origin no evidence organic heart disease (115 female, mean age 13 ± 3 years) 29 control underwent NTG-potentiated protocol. Paediatric controls were tilted at 60° for 20 min and, if symptom occurred, other 15 after 400 μg spray NTG...
To analyse the safety and impact on maintenance of sinus rhythm transoesophageal echocardiographically guided early cardioversion associated with short-term anticoagulation in a large series patients atrial fibrillation flutter. Patients who were candidates for eligible inclusion if they had or flutter lasting longer than 2 days unknown duration. received warfarin heparin underwent transthoracic echocardiography followed by echocardiography. Early was performed no thrombus seen study....
Eleven families with Noonan syndrome in either two or three generations have been identified. Following the reports of subjects features both and neurofibromatosis type 1, these pedigrees studied using a number probes at 1 locus (17q11). A significantly negative lod score was obtained intragenic probe NF1-C2, suggesting that genes for are not contiguous.
Abstract Objective . Lombroso and Fejerman, in 1977, described non‐epileptic movements normal infants named them “benign myoclonus of early infancy”, which were recently relabelled by Fernandez‐Alvarez as polymorphous movement disorder infancy” (BPMDI). The focus our study was to describe, categorize point out the peculiar clinical representations these heterogeneous phenomena through video footage, particularly those less experienced paediatric neurology. Methods We included all with a...