Publications by authors named "Giuliana Nanni"
Allan-Herndon-Dudley syndrome (AHDS) is caused by mutations in the SLC16A2 gene, encoding for the monocarboxylate transporter 8 (MCT8). Central hypothyroidism and chronic peripheral thyrotoxicosis result in a severe phenotype, mainly characterized by poor growth, intellectual disability, spastic tetraparesis, and movement disorders, including paroxysmal ones (startle reaction and paroxysmal dyskinesias). Seizures are rarely reported.
View Article and Find Full Text PDFBackground: The outcome of benign convulsions associated with gastroenteritis (CwG) has generally been reported as being excellent. However, these data need to be confirmed in studies with longer follow-up evaluations.
Aim: To assess the long-term neurological outcome of a large sample of children presenting with CwG.
Aim: To test if total ghrelin is present in infant formulas.
Methods: Using a radioimmunoassay, we measured total ghrelin concentrations in 19 samples of commercial infant formulas and in 20 samples of human milk. We also determined ghrelin concentration in the serum of infants and lactating mothers.
Purpose: To assess the clinical characteristics and the outcome of benign convulsions associated with mild gastroenteritis (CwG) in Italian children.
Methods: We studied clinical and EEG features of 128 children with CwG who were hospitalized between January 2004 and February 2008 and then followed for at least 12 months in 14 Italian centers.
Results: Age at onset ranged from 6 to 60 months.
Aim: To establish ghrelin, leptin and IGF-I serum levels in breastfed (BF) and formula-fed (FF) infants during the first period of life.
Methods: A cross-sectional study was conducted on fasting blood venous samples obtained from exclusively BF (n=106) and FF (n=100) infants to measure total ghrelin (RIA test), leptin (RIA test) and IGF-I (chemiluminescence). Anthropometrical measurements of weight, length and cranial circumference were performed.