Search results for "and Child Health"
showing 10 items of 1781 documents
Diagnosi precoce dei disturbi dello spettro autistico: esperienza clinica e ruolo dei test genetici
2022
The case of an infant diagnosed with Autistic Spectrum Disorders (ASD) associated to a maternal segregated micro duplication (Xp21.2 region involving IL1RAPL1 and NR0B1 genes) is described. The role of the genetic test in approaching the diagnosis and the therapy of ASD is discussed.
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoG…
2019
This multicenter/multinational, open-label, ascending-dose study (NCT01898364) evaluated safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of repeat-dose avalglucosidase alfa (neoGAA), a second-generation, recombinant acid α-glucosidase replacement therapy, in late-onset Pompe disease (LOPD). Patients ≥18 years, alglucosidase alfa naïve (Naïve) or previously receiving alglucosidase alfa for ≥9 months (Switch), with baseline FVC ≥50% predicted and independently ambulatory, received every-other-week avalglucosidase alfa 5, 10, or 20 mg/kg over 24 weeks. 9/10 Naïve and 12/14 Switch patients completed the study. Avalglucosidase alfa was well-tolerated; no deaths…
Effects of dopamine infusion on plasma catecholamines in preterm and term newborn infants.
1991
Newborn infants (21 preterm and 13 term) received dopamine infusions at a low (2.5-3.4 micrograms/kg per min) and/or high (5-10 micrograms/kg per min) infusion rate and changes in plasma catecholamines were monitored. The mean baseline values for dopamine, noradrenaline and adrenaline were between 240 and 560, 125 and 144 and 62 and 82 pg/ml, respectively. During low-rate infusion of dopamine, there was a significant increase in plasma dopamine (20-100 fold), noradrenaline (three- to five-fold) and adrenaline (threefold). Administration of dopamine at the high rate resulted in an even larger increase in the plasma catecholamines (dopamine, 100-300 fold; noradrenaline, seven- to eightfold; a…
Análisis de la productividad e impacto científico de la pediatría española (2006-2010)
2013
Resumen: Introducción: El objetivo de este trabajo es cuantificar mediante indicadores bibliométricos la productividad científica de los investigadores e instituciones españolas que publican en revistas pediátricas nacionales y extranjeras, y en revistas multidisciplinares o de otras disciplinas o áreas del conocimiento, durante el quinquenio 2006-2010, así como determinar su repercusión o impacto. Método: Los trabajos objeto de estudio se han obtenido de las bases de datos Science Citation Index Expanded, Scopus, Índice Médico Español e Índice Bibliográfico Español en Ciencias de la Salud, aplicando perfiles de búsqueda específicos. Resultados: Se publicaron 7.971 artículos en 971 revistas…
Array CGH defined interstitial deletion on chromosome 14: a new case
2009
Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up.
Small omphalocele with umbilical evagination of the bladder: a distinct entity?
2006
A neonatal case of umbilical evagination of the bladder combined with a small omphalocele is presented. This rare congenital malformation has previously been described in only three cases. Umbilical evagination can be understood as a disturbance of development of both the vitelline and allantoic ducts, resulting in a non-descended but otherwise normal bladder opening to the inferior margin of a small omphalocele. Diagnosis is made by clinical inspection and ultrasound. Since other malformations are not present, this entity may be regarded as a minor form of a lower midline defect with excellent prognosis.
Short Sleep Duration Is Related to Emerging Cardiovascular Risk Factors in Obese Children
2015
Objective: The aim of the present study was to evaluate the influence of sleep duration on cardiovascular risk factors in obese children. Methods: Cross-sectional analysis of 90 obese children ages 7 to 16 years. Anthropometric and clinical evaluation with specification of dietary and lifestyle habits was carried out during an office visit. Sleep duration was evaluated by the BEARS (B = bedtime issues, E = excessive daytime sleepiness, A = night awakening, R = regularity and duration of sleep, S = snoring) questionnaire on children's sleep characteristics. Sleep time adequacy by age was assessed according to the criteria of the National Sleep Foundation. Biochemical blood variables indicati…
Associations of cardiometabolic risk factors with heart rate variability in 6‐ to 8‐year‐old children: The PANIC Study
2019
BACKGROUND Associations of cardiometabolic risk factors with heart rate variability (HRV) in children are unclear. We examined associations of cardiometabolic risk score (CRS) and individual cardiometabolic risk factors with HRV variables in 6- to 8-year-olds. METHODS The participants were a population-based sample of 443 children participating in baseline measurements of the Physical Activity and Nutrition in Children trial. Cardiometabolic risk factors included waist circumference (WC), insulin, glucose, triglycerides, HDL cholesterol, systolic blood pressure (SBP), and diastolic blood pressure (DBP). CRS was calculated as WC + insulin + glucose + triglycerides - HDL cholesterol + the mea…
Branched-Chain and Aromatic Amino Acids Are Associated With Insulin Resistance During Pubertal Development in Girls.
2018
Cross-sectional studies in children show branched-chain and aromatic amino acids are associated with insulin resistance, but whether these associations persist from childhood to adulthood is not known. This study aimed to assess whether circulating amino acids associate with insulin resistance during pubertal development.This was a 7.5-year longitudinal study from childhood to early adulthood. A total of 396 nondiabetic Finnish girls aged 11.2 ± .8 years at baseline participated in the study which was conducted at the Health Science Laboratory, University of Jyväskylä. Serum concentrations of glucose and insulin were determined by enzymatic photometric methods and amino acids by nuclear mag…
Imagen corporal y restricción alimentaria en adolescentes
2003
Antecedentes: El progresivo incremento de los trastornos alimentarios sugiere la necesidad de comenzar los esfuerzos de educación para la salud en la infancia. Sin embargo, la prevención de los problemas alimentarios ha sido un objetivo complicado y, tal vez por eso, eludido por los investigadores. La conducta restrictiva y la alteración de la imagen corporal son dos criterios fundamentales en el diagnóstico de los trastornos alimentarios. Objetivo: El propósito de este trabajo fue explorar en una muestra de 373 adolescentes las relaciones existentes entre sus esquemas acerca de la apariencia y actitudes restrictivas como la preocupación por el peso y la dieta. Métodos: Los instrumentos uti…