The Journal of clinical endocrinology and metabolism
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J. Clin. Endocrinol. Metab. · Jun 2012
Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.
Genomic imprinting is the modification of the genome so that genes from only one (rather than two) of the parental alleles are expressed. The mechanism underlying imprinting is epigenetic, occurring via changes in DNA methylation and histone modifications rather than through alterations in the DNA sequence. To date, nine different imprinting disorders have been clinically and genetically identified and a considerable research effort has been focused on determining the cause of the corresponding methylation defects. ⋯ Our work suggests that a trans-acting gene regulating the establishment or maintenance of imprinting at GNAS locus, if it exists, should be specific to PHP cases caused by epigenetic defects at GNAS.
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J. Clin. Endocrinol. Metab. · Jun 2012
Randomized Controlled Trial Comparative StudyTreatment of vitamin D insufficiency in children and adolescents with inflammatory bowel disease: a randomized clinical trial comparing three regimens.
Vitamin D insufficiency [serum 25-hydroxyvitamin D (25OHD) concentration less than 20 ng/ml] is prevalent among children with inflammatory bowel disease (IBD), and its treatment has not been studied. ⋯ Oral doses of 2,000 IU vitamin D(3) daily and 50,000 IU vitamin D(2) weekly for 6 wk are superior to 2,000 IU vitamin D(2) daily for 6 wk in raising serum 25OHD concentration and are well-tolerated among children and adolescents with IBD. The change in serum PTH concentration did not differ among arms.
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J. Clin. Endocrinol. Metab. · Jun 2012
Randomized Controlled TrialProspective follow-up of novel markers of bone turnover in persistent asthmatics exposed to low and high doses of inhaled ciclesonide over 12 months.
In asthmatic patients receiving long-term inhaled corticosteroid therapy, there are concerns regarding the potential for developing systemic adverse effects on bone metabolism, possibly even in the absence of adrenal suppression. ⋯ Higher doses of inhaled ciclesonide do not adversely affect sensitive markers of bone turnover in persistent asthmatics over 12 months.
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J. Clin. Endocrinol. Metab. · Jun 2012
Randomized Controlled TrialImprovement of vitamin D status via daily intake of fortified yogurt drink either with or without extra calcium ameliorates systemic inflammatory biomarkers, including adipokines, in the subjects with type 2 diabetes.
Systemic inflammation is thought to have a central role in diabetic long-term complications. ⋯ Daily intake of vitamin D-fortified doogh improved inflammatory markers in T2D subjects, and extra calcium conferred additional benefit only for the antiinflammatory adipokine, i.e. adiponectin.
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J. Clin. Endocrinol. Metab. · Jun 2012
Cost impact of molecular testing for indeterminate thyroid nodule fine-needle aspiration biopsies.
Molecular testing of fine-needle aspiration (FNA) results helps diagnose thyroid cancer, although the additional cost of this adjunct has not been studied. We hypothesized that FNA molecular testing of two indeterminate categories (follicular lesion of undetermined significance and follicular/Hürthle cell neoplasm) can be cost saving. ⋯ Molecular testing of cytologically indeterminate FNA results is cost saving predominantly because of reduction in two-stage thyroidectomy. Appropriate use of emerging molecular testing techniques may thus help optimize patient care, improve resource use, and avoid unnecessary operation.