A5021531734- Neuroscience and Neuropharmacology Research
- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Porphyrin Metabolism and Disorders
- EEG and Brain-Computer Interfaces
- Spinal Dysraphism and Malformations
- Genomics and Rare Diseases
- Congenital heart defects research
- Autoimmune Neurological Disorders and Treatments
- RNA regulation and disease
- Amino Acid Enzymes and Metabolism
- Pathogenesis and Treatment of Hiccups
- Vector-Borne Animal Diseases
- Infectious Encephalopathies and Encephalitis
- CNS Lymphoma Diagnosis and Treatment
- Electroconvulsive Therapy Studies
- Lysosomal Storage Disorders Research
- Coronary Artery Anomalies
- Cardiac Arrhythmias and Treatments
- Cellular transport and secretion
- Advanced Synthetic Organic Chemistry
- Parvovirus B19 Infection Studies
- Trauma Management and Diagnosis
- Vitamin K Research Studies
University of Modena and Reggio Emilia
2014-2024
Azienda Unita' Sanitaria Locale Di Modena
2019-2024
Azienda Ospedaliero-Universitaria di Modena
2014-2023
University of the Republic of San Marino
2022
University of Miami
2022
Istituto Ramazzini
2003
Istituto Zooprofilattico Sperimentale della Lombardia e dell'Emilia Romagna "Bruno Ubertini"
1995
Background and Objective. Grisel's syndrome is a rare characterized by nontraumatic rotatory subluxation of the atlantoaxial joint. It usually affects children typically presents with torticollis after ear, nose, throat (ENT) surgery or head neck infections. In pediatric literature, there only small amount available data; moreover, no systematic review has been previously done focus on population. We report our experience two cases, we provide in order to offer deeper insight about its...
Childhood epilepsy with centrotemporal spikes (CECTS) is the most common type of "self-limited focal epilepsies." In its typical presentation, CECTS a condition reflecting non-lesional cortical hyperexcitability rolandic regions. The benign evolution this disorder challenged by frequent observation associated neuropsychological deficits and behavioral impairment. abundance (or frequency) interictal (CTS) in considered risk factor for cognition. Herein, we captured hemodynamic changes...
Headache is the most frequent neurological symptom in childhood and main reason for admission to pediatric emergency departments. The aim of this consensus document define a shared clinical pathway between primary care pediatricians (PCP) hospitals management children presenting with headache. For purposes study, group hospital PCP from Emilia Romagna's health districts were selected achieve using RAND/UCLA appropriateness method. Thirty-nine scenarios developed: each scenario, participants...
Children with epilepsy and identified as responders to antiseizure medications (ASMs) were found present markedly higher ghrelin plasma levels when compared drug-resistant patients. However, it was undetermined if this phenotype could be influenced by the ASMs. Here, we prospectively investigated total des-acyl (DAG) enzyme-linked immunosorbent assay before after ASM administration. Inclusion criteria were: (i) subject a suspicion of epilepsy; (ii) age ranging from 0 16 years; (iii) informed...
Abstract Meningoencephalitis is the most important extrapulmonary manifestation of Mycoplasma pneumoniae infection. It complicated by seizures in at least 40% cases, and half them, status epilepticus can occur during acute phase, often leading to severe neurological sequelae. Brain imaging ranges from normal diffuse edema, focal changes, abnormal signals white matter, basal ganglia, hippocampi. Here, we describe a boy who presented with an onset transient alteration behavior, meningeal...
We describe the first case of a pediatric patient with acute intermittent porphyria and severe chronic porphyric neuropathy treated givosiran, small-interfering RNA that drastically decreases delta-aminolevulinic acid production reduces attacks' recurrence.
Array comparative genomic hybridization (a-CGH) has become the first-tier investigation in patients with unexplained developmental delay/intellectual disability (DD/ID). Although costs are progressively decreasing, a-CGH is still an expensive and labour-intensive technique: for this reason a definition of categories that can benefit most analysis needed. Aim study was to retrospectively analyze clinical features children DD/ID attending outpatient clinic Mother & Child Department University...
Summary Objectives To provide insight into the pathophysiology of idiopathic childhood occipital epilepsies ( ICOE s), by mapping contribution retinotopic visual areas to generation and sustainment epileptic activity. Methods Thirteen patients affected s (mean age = 10.9 years) underwent a video electroencephalography–functional magnetic resonance imaging EEG ‐ fMRI ) study. A flexible‐related analysis was applied estimate shape blood oxygen level–dependent BOLD response in each patient....
Interdural dermoid cysts (DCs) of the cavernous sinus (CS), located between outer (dural) and inner layer (membranous) CS lateral wall, are rare lesions in children. The authors report on a 5-year-old boy with third cranial nerve palsy exophthalmos who underwent gross-total removal an interdural DC right via frontotemporal approach. patient had good outcome no recurrence at 12-month follow-up. To best authors' knowledge this is second pediatric case described literature.
Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa (DDC) gene. Adeno-associated viral vector-mediated gene transfer of human DDC injected into putamen available. The typical presentation characterized early-onset hypotonia, severe developmental delay, movement disorders, and dysautonomia. Recently, mild even atypical phenotypes have been reported, increasing diagnostic...
Abstract Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive metabolic disorder resulting from disease-causing pathogenic variants of the dopa (DDC) gene. The neurological features AADC include early-onset hypotonia, oculogyric crises, ptosis, dystonia, hypokinesia, impaired development, and autonomic dysfunction. In this article, we reported a patient with genetically confirmed presenting developmental epileptic encephalopathy (DEE). Our was boy severe...
Drowsiness has been implicated in the modulation of centro-temporal spikes (CTS) Self-limited epilepsy with Centro-Temporal Spikes (SeLECTS). Here, we explore this relationship and whether fluctuations wakefulness influence brain networks involved CTS generation.
Abstract Background Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive neurological disease. The physiopathology of disease still little understood, but it seems to involve impairment in maturation astrocytes; as a consequence more prone cellular stress. Disease caused by mutations five genes encoding subunits the translation initiation factor eIF2B. We know different types VWM syndrome classified based ages onset (prenatal, infantile, childhood, juvenile and...
Two mutant strains of pseudorabies virus (PRV) were selected from the virulent 86/27V treated with chemical drugs. The viruses, named 6A1 and 6C2, respectively, appeared to be unable express thymidine kinase function, as demonstrated by autoradiography test. They showed a reduced virulence for some susceptible animal species (chickens, mice, rabbits, calves, lambs piglets) was isolated sporadically. viruses able protect animals against infection strain PRV. At gross, well at histological...