Rufinamide in children and adults with Lennox-Gastaut syndrome: first Italian multicenter experience
This is the first multicenter Italian experience with rufinamide as an adjunctive drug in children, adolescents and adults with Lennox-Gastaut syndrome. The patients were enrolled in a prospective, add-on, open-label treatment study from 11 Italian centers for children and adolescent epilepsy care. Forty-three patients (26 males, 17 females), aged between 4 and 34 years (mean 15.9 ± 7.3, median 15.0), were treated with rufinamide for a mean period of 12.3 months (range 3-21 months). Twenty patients were diagnosed as cryptogenic and 23 as symptomatic. Rufinamide was added to the baseline therapy at the starting dose of 10mg/kg body weight, evenly divided in two daily doses and then increased…
The relationship between alexithymia, shame, trauma, and body image disorders: investigation over a large clinical sample.
Emilio Franzoni,1 Stefano Gualandi,1 Vincenzo Caretti,2 Adriano Schimmenti,3 Elena Di Pietro,1 Gaetano Pellegrini,1 Giuseppe Craparo,3 Arianna Franchi,1 Alberto Verrotti,4 Alessandro Pellicciari11Child Neuropsychiatry Unit, University of Bologna, Italy; 2Department of Psychology, University of Palermo, Italy; 3Faculty of Human and Social Sciences, Kore University of Enna, Enna, Italy; 4Department of Pediatrics, University of Chieti, ItalyBackground: The connections between eating disorders (EDs) and alexithymia have not been fully clarified. This study aims to define alexithymia's connections with shame, trauma, dissociation, and body image disorders.Methods: We administered the Dis…
Additional file 1 of Point of view of the Italians pediatric scientific societies about the pediatric care during the COVID-19 lockdown: what has changed and future prospects for restarting
Additional file 1. Fiarped questionnaire.
Zonisamide in children and young adults with refractory epilepsy: an open label, multicenter Italian study
Summary Purpose To report on the first multicenter Italian experience with zonisamide as an add-on drug for refractory generalised or partial epilepsy in children, adolescents and young adults. Methods The patients were enrolled in a prospective, add-on, open-label treatment study from eight Italian centres for children and adolescent epilepsy care. Eighty-two young patients (45 males, 37 females), aged between 3 and 34 years (mean 13.1 years), all affected by partial (47) or generalised (35) refractory epilepsy, were enrolled in the study. ZNS was added to the baseline therapy at a starting dose of 1 mg/kg/day twice daily. This dose was increased by 2 mg/kg every 1–2 weeks over a period of…
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γ 3H2AX-positive cells in cell lines derived from two affected individual…
Rufinamide in refractory childhood epileptic encephalopathies other than Lennox-Gastaut syndrome
Background:  To report on the first multicenter Italian experience with rufinamide as adjunctive drug in children, adolescents and young adults with refractory childhood-onset epileptic encephalopathies other than Lennox-Gastaut syndrome. Methods:  Thirty-eight patients (19 males, 19 females), aged between 4 and 34 (mean 13.7 ± 8.3, median 12.5), all affected by different types of childhood-onset refractory epileptic encephalopathies other than Lennox-Gastaut syndrome, were treated with rufinamide as adjunctive drug for a mean period of 11.4 months (range 3-26 months). Results:  Fifteen of 38 patients (39.5%) had a ≥50% seizure reduction in co…
Point of view of the Italians pediatric scientific societies about the pediatric care during the COVID-19 lockdown: What has changed and future prospects for restarting
Abstract Background The coronavirus disease 2019 (COVID-19) is currently rare in children and they seem to have a milder disease course and better prognosis than adults. However, SARS-Cov-2 pandemic has indirectly caused problems in pediatric medical assistance. In view of this we wanted to draw a picture of what happened during health emergency and analyze future prospects for restarting. Methods We involved the Italian pediatric scientific societies institutionally collected in the Italian Federation of Associations and Scientific Societies of the Pediatric Area (FIARPED); We sent a questionnaire to all scientific societies about the pediatric care activity during the COVID-19 emergency a…