Search results for " Infantile"

PRRT2 mutations are the major cause of benign familial infantile seizures.

2012

Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large fami…

Zonisamide in children and young adults with refractory epilepsy: an open label, multicenter Italian study

2009

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…

Rufinamide in refractory childhood epileptic encephalopathies other than Lennox-Gastaut syndrome

2011

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…

Gastrointestinal symptoms in infancy: A population-based prospective study

2005

Abstract Background. During the first months of life, infants can suffer from many ‘minor’ gastroenterological disturbances. However, little is known about the frequency of these problems and the factors which predispose or facilitate their onset. Aims. (a) To ascertain the frequency of the most common gastrointestinal symptoms in infants during the first 6 months after birth; (b) to evaluate the influence of some variables on the onset of the symptoms. Study design and patients. Each of the 150 paediatricians distributed throughout Italy followed 20 consecutive infants from birth to 6 months. 2879 infants (1422 f, 1457 m) concluded the study. The presence of the following symptoms was eval…

Alexithymic characteristics in pediatric patients with primary headache: a comparison between migraine and tension-type headache

2015

Background: Alexithymia is a personality construct characterized by difficulties in verbal emotional expression and a limited ability to use one’s imagination. Evidence of alexithymic characteristics was found in adults suffering from headache, while little is known about children. The aim of this study was to establish the prevalence of alexithymia in two different subgroups of children and adolescents suffering from primary headache. We also looked for correlation between alexithymia in children and in their mothers. Methods: This study involved 89 participants: 47 (11 males, 36 females, aged 8 to 17 years) suffering from tension-type headache (TTH), and 42 (18 males, 24 females, aged 8 t…

sULLE ANGIODISPLASIE VENOSE DEL SISTEMA GIUGULARE ESTERNO NELL'INFANZIA

1978

Gli Autori descrivono un caso di angiodisplasia venosa del collo (il cosiddetto venoma) per contribuire alla clinica e terapia dell'affezione.

Anabolic steroid abuse and dependence: psychiatric effects in adolescents and young adults

2009

Anabolic steroid abuse and dependence: risk factors of the use of drug and psychoactive substances

2009

Analisi delle rappresentazioni. Uno studio delle opere di E. Goffman (1922-1982).

2012

Sleep disturbances in Algelman syndrome: a questionnaire study

2004

Only few studies are available on sleep disorders in Angelman syndrome (AS), a neurodevelopmental disorder with several behavior disturbances. The aim of this study was to determine the prevalence of sleep disorders in a relatively large group of AS subjects, compared to that of age-matched controls. Fourty-nine consecutive parents of patients with AS (26 males and 23 females aged 2.3–26.2 years) were interviewed and filled out a comprehensive sleep questionnaire. Based on their genetic etiology, four groups were defined: deletion of chromosome 15q11–13 (25 subjects); methylation imprinting mutation (six subjects), UBE3A mutations (seven subjects) and paternal uniparental disomy (five subje…