The Journal of clinical endocrinology and metabolism
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J. Clin. Endocrinol. Metab. · Dec 2012
Controlled Clinical TrialPRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Acrodysostosis is a rare skeletal dysplasia that is associated with multiple resistance to G protein-coupled receptor (GPCR) signaling hormones in a subset of patients. Acrodysostosis is genetically heterogeneous because it results from heterozygous mutations in PRKAR1A or PDE4D, two key actors in the GPCR-cAMP-protein kinase A pathway. ⋯ All PRKAR1A and PDE4D patients present similar bone dysplasia characterizing acrodysostosis. Phenotypic differences, including the presence of resistance to GPCR-cAMP signaling hormones in PRKAR1A but not PDE4D patients, indicate phenotype-genotype correlations and highlight the specific contributions of PRKAR1A and PDE4D in cAMP signaling in different tissues.
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J. Clin. Endocrinol. Metab. · Dec 2012
Case Reports"Hyper-warburgism," a cause of asymptomatic hypoglycemia with lactic acidosis in a patient with non-Hodgkin's lymphoma.
In cancer cells, the Warburg effect is defined as the avid consumption of glucose through the glycolytic pathway with concomitant lactate production, even under aerobic conditions. ⋯ This case represents an exaggerated Warburg effect, or "hyper-warburgism," characterized by excessive lactate production and overwhelming glucose consumption. We speculate that the decreased brain FDG uptake, despite the lack of neuroglycopenic symptoms, supports the hypothesis that lactate served as a fuel for the brain, thus protecting against hypoglycemia.
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J. Clin. Endocrinol. Metab. · Dec 2012
Hazard of breast cancer-specific mortality among women with estrogen receptor-positive breast cancer after five years from diagnosis: implication for extended endocrine therapy.
More than half of the patients with estrogen receptor (ER)-positive breast cancers will relapse and die from breast cancer at 5-10 yr after diagnosis despite 5-yr endocrine therapy. Subpopulations of ER-positive patients at high risk of breast cancer-specific mortality (BCSM) at 5-10 yr are undetermined. ⋯ Our findings help to define the ER-positive subpopulations at higher risk of BCSM at 5-10 yr after diagnosis and are useful in choosing candidates for clinical trials of extended endocrine therapy after 5-yr treatment and in guiding individualized treatment.
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J. Clin. Endocrinol. Metab. · Dec 2012
Randomized Controlled TrialA randomized controlled trial to evaluate the effect of glycemic control on renal transplantation outcomes.
Outcomes from intensive glycemic control postrenal transplant have not been studied. ⋯ The primary outcome measure of DGF was not statistically different for the two treatment groups. Regarding longer-term rejection and graft survival, the intensively treated participants were at higher risk for a rejection episode.
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J. Clin. Endocrinol. Metab. · Dec 2012
The BRAF(V600E) mutation is an independent, poor prognostic factor for the outcome of patients with low-risk intrathyroid papillary thyroid carcinoma: single-institution results from a large cohort study.
The BRAF(V600E) mutation, the most frequent genetic alteration in papillary thyroid carcinoma (PTC), was demonstrated to be a poor prognostic factor. The aim of this study was to evaluate its prognostic significance in a large cohort of low-risk intrathyroid PTC. ⋯ The BRAF(V600E) mutation was demonstrated to be a poor prognostic factor for the persistence of the disease independent from other clinical-pathological features in low-risk intrathyroid PTC patients. It could be useful to search for the BRAF(V600E) mutation in the workup of low-risk PTC patients to distinguish those who require less or more aggressive treatments. In particular, the high negative predictive value of the BRAF(V600E) mutation could be useful to identify, among low-risk PTC patients, those who could avoid 131-I treatment.