Elisabetta Salvatici

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PKU subjects need special attention in the definition of optimal supplementation of nutrients, which may be insufficient in relation to the type of diet and may otherwise manifest symptoms of deficit. In particular, it is necessary to pay great attention to the long-chain polyunsaturated fatty acid (LC-PUFA) levels in relation to correct development of the(More)
Despite the appearance of new treatment, dietary approach remains the mainstay of PKU therapy. The nutritional management has become complex to optimize PKU patients' growth, development and diet compliance. This paper review critically new advances and challenges that have recently focused attention on potential relevant of LCPUFA supplementation, progress(More)
In developed countries, obesity is the most frequent nutritional disorder, and overweight and obesity prevalences have increased whilst physical activity and breakfast consumption have declined. There is growing scientific interest in the possible role of breakfast in weight control and in factors such as appetite control, dietary quality and reduced risk(More)
There is some evidence that early colonization of the intestine affects the composition of the intestinal microbiota after weaning. In the present study, the effect of prebiotics administered from the first day of life on fecal counts of bifidobacteria and lactobacilli were studied during and after the administration of the prebiotics. In this double-blind,(More)
Recently there has been considerable concern related to the presence of bacteria, in particular Enterobacter sakazakii, in powdered infant formula milk. E. sakazakii, a member of the family Enterobacteriaceae, is an emerging opportunistic pathogen that has been associated with cases of meningitis, necrotizing enterocolitis and sepsis in premature and(More)
AIMS The aim of this paper is to review the possible relationship of restricted phenylalanine (Phe) diet, a diet primarily comprising low-protein foods and Phe-free protein substitutes, with major cardiovascular risk factors (overweight/obesity, blood lipid profile, plasma levels of homocysteine, adiponectin and free asymmetric dimethylarginine (ADMA),(More)
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74(More)
BACKGROUND Phenylketonuria (PKU) is an inborn error of metabolism characterized by increased blood concentrations of phenylalanine (Phe). OBJECTIVES The aim of the present study was to assess the association between the metabolic compliance of adult patients affected by classic PKU and the characteristics of their present and past occupations. METHODS(More)
INTRODUCTION The aim of the present study was to examine whether hyperphenylalaninemic children on unrestricted diet (MHP) may exhibit a different LCPUFA profile from PKU or healthy children in plasma phospholipids. PATIENTS AND METHODS Forty-five MHP children (age 9-14 years) were age and sex matched with 45 PKU and 45 healthy children. Fatty acids were(More)
OBJECTIVE To examine whether a phenylalanine-free protein substitute with prolonged release may be beneficial to the protein status of children with phenylketonuria (PKU) compared to conventional substitutes. METHODS Sixty children with PKU, 7 to 16 years of age, were randomly allocated to receive either a prolonged-release (test) or the current(More)