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BACKGROUND Magnesium levels may be decreased in patients with type 1 diabetes mellitus (T1DM), influencing disease control. Relevant studies concern mainly adults and there are few data from the pediatric population. The aim of the present study was to evaluate magnesium levels and examine their possible association with glycemic control in youths with(More)
Silver Russell Syndrome (SRS) is a rare condition (1/3000 - 1/100,000 newborns). We present a female infant with SRS, cardiac malposition and asymmetric enlargement of the clitoris. She is the first child of Greek nonconsanguinous parents, born at 38 weeks gestation, following in vitro fertilisation (IVF). The patient had intrauterine growth retardation,(More)
OBJECTIVE Ghrelin and leptin levels are influenced by body fat (BF%), pubertal stage and possibly insulin resistance (IR). The aim of our study was: 1) To compare fasting ghrelin and leptin levels between obese and non-obese, adolescents, 2) to investigate possible correlations of these hormones with BF %, as well as IR. DESIGN Twenty obese insulin(More)
Simultaneous lower bone mineral density, metabolic bone markers, parathyroid hormone (PTH), magnesium, insulin-like growth factor 1 (IGF1), and higher levels of total soluble receptor activator of nuclear factor-kappa B ligand (s-RANKL), osteoprotegerin (OPG), and alkaline phosphatase (ALP) are indicative of lower osteoblast and increased osteoclast(More)
BACKGROUND Concurrent exocrine pancreatic dysfunction may be one of the factors implicated in malabsorption in untreated celiac disease, as shown by studies on bicarbonate and pancreatic enzyme secretion. The purpose of this study was to evaluate exocrine pancreatic function in relation to jejunal morphology in celiac disease. METHODS Thirty-six patients(More)
Hyperphosphatemic Familial Tumoral Calcinosis (HFTC; MIM211900) is a rare autosomal recessive disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, associated with elevated circulating levels of phosphate. The disease was initially found to result from mutations in GALNT3 encoding a(More)
GOALS To evaluate the efficacy of UDCA in arresting the progression of the early multifocal hepatic lesion to overt CF-related NBC. BACKGROUND Focal biliary cirrhosis is an early hepatic pathologic change related to the ion transport defect in cystic fibrosis. The factors involved in the progression of focal to nodular biliary cirrhosis are not clear.(More)
BACKGROUND IGF-I receptor (IGF1R) plays an essential role in human intrauterine and postnatal development. Few heterozygous mutations in IGF1R leading to IGF-I resistance and intrauterine and postnatal growth retardation have been described to date. OBJECTIVE The clinical and functional relevance of a novel heterozygous IGF1R mutation identified in a girl(More)
UNLABELLED Cystic-fibrosis-related diabetes mellitus is frequently underdiagnosed and associated with deterioration of overall clinical status. The purpose of this prospective study was to investigate the influence of insulin on nutrition, lung function and clinical status of cystic fibrosis patients. For a period of 5 y, and at 6-mo intervals, body mass(More)
Acquired von Willebrand syndrome (AvWS) is a rare bleeding disorder associated with a number of different diseases, including hypothyroidism. We describe two prepubertal girls with AvWS and undiagnosed hypothyroidism due to thyroiditis Hashimoto. The patients had neither family history nor symptoms of bleeding disorders. Substitution therapy with(More)