Maria Teresa Ortisi

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An analysis of LDL-receptor gene was performed on an Italian patient with heterozygous familial hypercholesterolemia. Restriction enzyme analysis showed that the proband was heterozygous for a deletion of 4.5 kb spanning the 5' end of exon 13 (45 nucleotide residues) to intron 15. Amplification of genomic DNA, using polymerase chain reaction (PCR), followed(More)
Diet variability influences the accuracy of the assessment of the relationship between nutrient intake and disease. The present study investigates intra- and inter-individual variability in an infant population at 12 months. The mothers of 79 infants completed a 7-day weighted food record. No significant difference in nutrient intake was observed between(More)
The association between lipids and apoproteins and indices of fat patterning was assessed in a sample of school-age children of both sexes. The study included 361 children between 6 and 15 years of age in two urban centers in the Milan area. Ages, weights, and skin folds were recorded, and percentages of overweight and body mass index were derived. Total(More)
An investigation of the nutrient intake of a large-scale sample (n = 35,072), drawn from the Italian school-age population (7-10 years) was carried out in a nationwide survey of nutritional patterns. Friuli, the Piedmont, Latium and Sicily regions were selected as representative of the nation's north-south and east-west socio-economic divisions. A food(More)
The calcium intakes of 35,072 Italian schoolchildren aged 7-10 years were investigated as part of a nation-wide survey of nutritional patterns. The Friuli, Piedmont, Latium and Sicily regions of Italy were selected as representative of the nation's north-south and east-west socio-economic divisions. A food-frequency questionnaire was used to assess the(More)
AIM The aim of the study was to assess the quality of clinical practice guidelines (CPGs) using the Appraisal of Guidelines for Research and Evaluation (AGREE) instrument, a validated international tool. MATERIALS AND METHODS CPGs were identified by searching MEDLINE (1966-January 2009) and Embase (1988-January 2009), CPG databases, and relevant Web sites(More)
Hypokalemia is a recognized cause of rhabdomyolysis but very few reports document its association with inborn renal tubular disorders. We report our experience with hypokalemic rhabdomyolysis in 5 pediatric patients affected by inborn renal tubular disorders and the results of a careful review of the literature disclosing 9 further cases for a total of 14(More)
The Italian Pediatric Network is now 8 years old. The number of pediatric Departments has increased from the 19 that in 2006 began a feasibility study of the project, to the 129 of today. The objectives of the network are: scientific research, surveillance of rare events, monitoring of complex phenomena , standardization of diagnostic criteria and(More)
From January 1st, 1983 to March 31st, 1988, 66 children with GER were tested with barium esophagogram, esophageal pH monitoring and esophagoscopy. A medical therapy was given to 49 children and 46 had a clinical improvement; 13 were operated. Early diagnosis is very important to prevent complications: in fact our data show that older children have the worst(More)