Search results for "Infantil"

Utilisation de stéroïdes anabolisants chez des adolescents ayant une activité sportive

2018

Resume But de l’etude Jusqu’a ces dernieres annees, l’utilisation de SAA etait reservee exclusivement aux athletes professionnels. Dans les pays anglo-saxons, l’usage des SAA a une large diffusion parmi les adolescents et les lyceens. En Australie, aux Etats-Unis et en Angleterre, l’utilisation des SAA pourrait devenir un probleme de societe a moins qu’il ne le soit deja, du fait des troubles du comportement chez les consommateurs. La litterature met en evidence, chez les utilisateurs de SAA, la consommation concomitante de nombreuses autres substances, susceptibles de favoriser des comportements agressifs et dangereux envers autrui et envers soi-meme. L’objet de cette etude concerne les ha…

Il tempo del sociale nell'adolescenza

2009

Different types of intestinal atresia in identical twins

2008

The authors present a previously unreported association of different types of intestinal atresia in identical low-birth-weight twins. Both babies were affected by duodenal atresia, associated in the first case with a complete mucosal duodenal membrane and in the second one with an "apple-peel" jejunal atresia. These occurrences may suggest that they were either the consequence of linkage of 2 genes or a pleiotropic expression of a single gene responsible for such rare conditions.

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications

2020

Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A > T p.(Ser493Cys), and the oldest known individual age 53 years. The KOGS phenotype includes characteristic facial features, tall stature, scoliosis, hyperelastic thin skin, lipodystrophy, variable intellectual and neurological deterioration, and abnormalities on brain imaging. Long-term outcome is unknown. Our cases confirm the phenotypic spectrum includes progressive flexion contrac…

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…

Estudio de los factores ambientales que afectan a la conducta de actividad física en niños y niñas en edad preescolar

2017

Introducción: La actividad física es una conducta de salud que conlleva múltiples beneficios para la población. En niños y niñas de preescolar, la realización de actividad física conlleva una mejora de la adiposidad corporal, salud ósea, desarrollo de habilidades motoras, salud psicosocial, desarrollo cognitivo y aspectos de la salud cardiometabólica. La realización de dicha actividad va a depender de varios factores, entre los que se encuentran factores ambientales, así como el tiempo en el que pasan los niños y niñas en el contexto escolar. Objetivo general: Conocer y analizar los factores, sobre todo ambientales, que influyen en la conducta de actividad física de los niños y niñas en eda…