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Background Bisphenol A (BPA) exposure has been associated with increased incidence of diabetes and obesity in adults. Objectives To evaluate whether an association between BPA urinary levels and insulin resistance as well as adiponectin and resistin production and serum concentrations may occur in obese children. Methods Clinical and biochemical features of 141 obese children were collected. Serum resistin and adiponectin were evaluated. Insulin resistance and urinary BPA levels were assessed. Moreover, the effect of BPA on adiponectin and resistin gene expression in adipocytes from eight normal weight prepubertal children was investigated by quantitative real-time RT-PCR (qPCR). Results Direct association between BPA and homeostasis model assessment ( r = 0.23; p: 0.0069) and a strong inverse association between BPA and adiponectin have been found ( r = −0.48; p < 0.0001). In adipocytes, resistin expression was detected only after BPA treatment, while adiponectin expression resulted down-regulated after BPA exposure ( p < 0.05 at both 10 and 100 nM BPA concentrations). Conclusions We suggest the involvement of BPA in the development of insulin resistance in childhood obesity highlighting that urinary BPA levels are directly associated with insulin resistance regardless of BMI. This association may be explained, at least partly, by the findings that BPA affects resistin and adiponectin production in adipose tissue cultures. [ABSTRACT FROM AUTHOR]

Background The N-acetyltransferase 2 ( NAT2) A803G polymorphism has been associated with decreased insulin sensitivity in a large adult population with the A allele associated with insulin-resistance-related traits. Objective Evaluate the association of this polymorphism with anthropometric and metabolic parameters in obese children and adolescents. Subjects A total of 748 obese children and adolescents were enrolled. Methods Anthropometric and laboratory data were collected. During oral glucose tolerance test, the presence of a possible exaggerated plasma glucose excursion at 1 h ( 1HPG) or impaired glucose tolerance ( IGT) was considered. Homeostasis model assessment, oral disposition index ( oDI) and insulinogenic index ( IDI) were calculated. Patients were genotyped for the NAT2 A803G polymorphism. Results The prevalence of both IGT and elevated- 1HPG was higher in children carrying the A803 allele ( P = .02 and P = .03). Moreover, this allele was associated with both oDI and IGI reduction ( P = .01). No differences among the NAT2 A803G genotypes for the other parameters were shown. Children homozygous for the A allele presented an odds ratio ( OR), to show IGT of 4.9 ( P = .01). Children both homozygous and heterozygous for the A allele had higher risk to show elevated- 1HPG ( OR of 2.7, P = .005; and OR = 2.3, P = .005) compared with patients homozygous for the NAT2 803G allele. Conclusions NAT2 A803 allele seems to play a role in worsening the destiny of obese children carrying it, predisposing them to elevated- 1HPG and IGT and then to a possible future type 2 diabetes mellitus throughout an impairment of pancreatic β-cellular insulin secretion as suggested by oDI and IGI reduction. [ABSTRACT FROM AUTHOR]

Turner Syndrome(TS) is adevelopmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 timesmore frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (SLC2A3, SLC2A14, and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in nonsyndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS. [ABSTRACT FROM AUTHOR]

Objective To evaluate normoglycemic overweight/obese (Ow/Ob) children whose post-load plasma glucose (2hPG) cut-point may be significantly associated with cardiometabolic risk factors (CMRFs) and whether this cut-point predicts preclinical signs of organ damage. Methods One thousand seven hundred and thrity four normoglycemic Ow/Ob children were stratified into quintiles of 2hPG, the sixth group was constituted by 101 children with impaired glucose tolerance (IGT). Results Moving from the lower quintiles of 2hPG to IGT, the groups differed for Prepubertal stage, BMI, fasting PG, insulin levels, blood pressure, and lipids. To evaluate the best cut-off of 2hPG related to CMRFs, the area under the receiver operating characteristic curve and the Youden's index was calculated. Insulin resistance, high blood pressure, and high triglyceride/HDL-C ratio were associated with a 2hPG cut-off of 110 mg/dl. Children with 2hPG ≥110 mg/dl showed 1.3-3.2 fold higher risk to have high levels of ALT (as surrogate of nonalcoholic fatty liver disease) or increased carotid intima-media thickness. Conclusions This study, performed in a large cohort of Ow/Ob children, shows that an atherogenic risk profile and preclinical signs of organ damage are associated with post-challenge elevations in plasma glucose still considered in the high normal range. [ABSTRACT FROM AUTHOR]

Several patients with partial trisomy 6p resulting from parental balanced translocations or from a de novo duplication or insertion have already been described. Here, we report on the first case of familial pure trisomy 6p as a result of interstitial tandem duplication. The patient, an 11-year-old female, presented with mild dysmorphic features, moderate intellectual disability with behavioral disturbances, immunodeficiency, and epilepsy. Conventional cytogenetic analysis showed a duplication of the 6p region in the patient and in her mother presenting with a partially overlapping phenotype. The rearrangement was confirmed and defined by molecular cytogenetic analysis, including FISH and array CGH analysis showing a gain of ∼13.8 Mb from 6p12.3 to 6p21.31. The phenotype of a pure partial trisomy 6p is extremely heterogeneous depending on the gene contents of the duplicated region. The clinical features of our patients have been compared with overlapping cases from the literature. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Obese children, without arterial hypertension, may be a unique clinical opportunity to evaluate the effect of obesity, per se, on ventricular repolarization, excluding the influence of possible comorbidities. The QTc dispersion (QTc-d), JTc dispersion (JTc-d), and transmural dispersion of repolarization (TDR) have been suggested to be electrocardiographic indexes reflecting the physiological variability of regional ventricular repolarization. The aim of our study is to define the effects of obesity on the ventricular repolarization in obese children who have no other clinically appreciable cause of heart disease. The study involved 70 subjects (48 male, 22 female), with a mean age (± standard deviation) of 13 ± 2 years. A total of 35 individuals were obese (Group A: 24 male, 11 female, mean body mass index [BMI] of 38.2 ± 5.8 kg/m), and 35 participants were healthy lean children (Group C: 24 male, 11 female, mean BMI of 22.3 ± 0.3 kg/m). Heart rate; QRS duration; maximum and minimum QT interval; and QTc-d, JTc-d, and TDR measurement were performed. Compared with the healthy control group, obese children presented increased values of the QTc-d, JTc-d, and TDR (31.1 ± 10.6 vs 46.2 ± 15.3 ms, P < 0.003; 29.8 ± 8.5 vs 40.1 ± 10.3 ms, P < 0.04; 83.2 ± 13.5 vs 100.7 ± 16.3 ms, P < 0.05). A statistically significant correlation was found between the values of QTc-d, insulin serum concentration (r = 0.46, P = 0.04), and homeostasis model assessment of insulin resistance (r = 0.34, P = 0.03). Our data suggest that obese nonhypertensive children have an increased ventricular repolarization heterogeneity in relation to controls. (PACE 2010; 33:1533-1539) [ABSTRACT FROM AUTHOR]

A letter to the editor is presented on rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood.

A letter to the editor is presented highlighting a study which proposed that hyperinsulinemia may play a role in influencing height velocity in obese children.

Evaluates the leptin levels in thalassaemic patients. Endocrine disorders related to toxic effects of iron overload; Mechanism of action of leptin; Leptin concentration in thalassaemic males and females.