A5103204007- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Neuroscience and Neuropharmacology Research
- Neonatal and fetal brain pathology
- Ion channel regulation and function
- Ion Transport and Channel Regulation
- Genomics and Rare Diseases
- Congenital heart defects research
- ATP Synthase and ATPases Research
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Respiratory Support and Mechanisms
- Metabolism and Genetic Disorders
- Pharmacological Effects and Toxicity Studies
- Chromosomal and Genetic Variations
- RNA and protein synthesis mechanisms
- Bacterial Infections and Vaccines
- Infant Development and Preterm Care
- Genetic and rare skin diseases.
- Cellular transport and secretion
- Neuroscience of respiration and sleep
- Dermatological and Skeletal Disorders
- Neonatal Respiratory Health Research
- Biochemical and Molecular Research
- Microtubule and mitosis dynamics
University of Catania
2018-2024
Policlinico Universitario di Catania
2021-2024
Azienda Ospedaliero-Universitaria Policlinico - Vittorio Emanuele
2018-2023
Marconi University
2023
University of Rome Tor Vergata
2020
University of Brescia
2020
Istituti Clinici Scientifici Maugeri
2018
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
2017
Mater Dei Hospital
2014
Our study aimed to evaluate the effectiveness of corticosteroids on seizure control in drug-resistant epilepsies (DREs). primary goal was assess response steroids for various underlying etiologies, interictal electroencephalographic (EEG) patterns and electroclinical descriptions. second compare steroid responsiveness different treatment protocols.
Background: Few studies on adult and pediatric patients have shown pyridoxine efficacy as additional therapy for those receiving levetiracetam (LEV) to prevent mitigate behavioral adverse effects (BAEs). Objective: The aim of our study was analyze the safety supplementation in prevention LEV effects, including suicidal ideation. Methods: This randomized, case-control trial included monotherapy treatment. Patients were subdivided into 2 groups, according whether they treated with only (group...
Background: KCNQ2 encephalopathy is characterized by neonatal-onset epilepsy and developmental impairment, due to "de novo" pathogenic variants. According literature data, sodium channel blocking agents appear be the best treatment options for disease. Reports describing use of ketogenic diet (KD) in pediatric population are limited. The non-conservative amino acid substitution p.Ser122Leu associated with a broad spectrum inheritance modalities, clinical phenotypes outcomes; no previous...
Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of neurexin family, are known to be associated autism, intellectual disability, and other neuropsychiatric disorders. A set intronic deletions CNTNAP2 has also been suggested have causative role individuals with wide phenotypic spectrum, including Pitt-Hopkins syndrome, Cortical Dysplasia-Focal-Epilepsy Syndrome, Tourette language dysfunction abnormal...
Palliative care is a comprehensive treatment approach that guarantees comfort for pediatric patients and their families from diagnosis to death. The techniques used neurological in the field of palliative can enhance quality provided with disorders support families.
Deletion of the region including chromosome 6p25 has been defined as a syndrome, with more than 68 reported cases. Individuals affected by syndrome exhibit variable findings, developmental delay and intellectual disability, cardiac anomalies, dysmorphic features, and-less commonly-skeletal renal malformations. Ocular hearing abnormalities are most notable presenting features. The encompasses 15 genes, which FOX group is likely causal factor clinical manifestations. We report case 2-year-old...
In patients with moderate-to-severe Chronic Obstructive Pulmonary Disorder (COPD), pulmonary hyperinflation can occur at rest and increase during episodes of exacerbation. Among other mechanical constraints, changes in position configuration the diaphragm are also induced by increased end-expiratory lung volume. Both descent flattening might damage phrenic nerves stretching their fibers. The study aimed to investigate nerve conduction COPD stable conditions a group 11 without relevant...
Bacterial colonization is a well-known phenomenon in acute care, but scant information available regarding the rehabilitation setting. We retrospectively analyzed, COPD patients admitted to Respiratory Rehabilitative unit 2010, number of cultures requested, positive cultures, and showing multiple drug resistant (MDR) organisms. also compared hospital admissions (HA) with versus without MDR investigated which baseline variables may predict length stay (LOS) > 30 days. Of 286 (involving 269...
Objectives: To report a case series of children presenting with episodes abrupt onset psychotic symptoms presumably linked to pediatric autoimmune neuropsychiatric disorders associated streptococcal infection (PANDAS) and acute-onset syndrome (PANS). Methods: Children/adolescents were selected among the group individuals affected by clinical diagnosis PANDAS/PANS. One was coming from Center UMDNJ-New Jersey Medical School, New Jersey, USA other Department Pediatrics Catania University,...
Abstract Background Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age onset before 18 months with recurrent hemiplegia one or either sides the body quadriplegia. The mainly caused mutations in ATP1A3 gene, to a lesser extent ATP1A2 gene. In AHC neurological co-morbidities are various frequently reported including developmental delay, epilepsy, tonic dystonic spells, nystagmus,autonomic manifestations intrafamilial variability. Case presentation Clinical...
Abstract Background The BUB 1 mitotic checkpoint serine/threonine kinase B (BUB1B) gene encodes a key protein in the spindle checkpoint, which acts as surveillance mechanism, crucial for maintenance of correct chromosome number during cell deviation. Mutations BUB1B are linked to mosaic variegated aneuploidy (MVA1) syndrome, rare autosomal recessive disorder characterized by widespread aneuploidies, involving different chromosomes and tissues. MVA1 is clinically intrauterine growth...
Deletions in chromosome 15q13 have been reported both healthy people and individuals with a wide range of behavioral neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1-BP6) are mapped to the region three further embedded BP regions (BP3-BP5). The deletion at BP4-BP5 is rearrangement most frequently observed compared other known deletions BP3-BP5 BP3-BP4 regions. each these previously implicated variable clinical phenotypes, including minor dysmorphism, developmental...