Endocrine Abstracts

Background: TMEM127 encodes for a ubiquitously expressed transmembrane protein with limited knowledge into its role. TMEM127 germline loss-of-function is a driver of pheochromocytoma and paraganglioma (PPGLs), tumors derived from the adrenal medulla and extra-adrenal paraganglia, respectively. Molecularly, TMEM127 mutant PPGLs belong to the kinase cluster, characterized by kinase signaling transcriptional programs. Receptor tyrosine kinase RET, a driver of PPGLs via germline o...

Background: Adipocyte cells could produce numerous extracellular vesicles and orchestrate the balance of endocrinological system. Polycystic ovary syndrome (PCOS) is a refractory reproductive disease and also a kind of endocrine and metabolic disease. The aim of the study was to explore the effects of adipocyte-derived extracellular vesicles-miR-26b on cumulus cells (CCs) and development of PCOS.Methods: The crosstalk mediated by extracellular vesicle-mi...

Introduction: Radioiodine is used for the treatment of Thyrotoxicosis when medical treatment (anti-thyroid drugs) has failed or cannot be tolerated and surgical treatment is not an option. Our previous audit in 2011 demonstrated substantial adherence to the Royal College of Physicians (RCP) guidelines for Radioiodine treatment, but one patient was lost to follow-up. It was recommended that we improve our re-call system. We aimed to re-audit our service.<p ...

Introduction: Radioiodine is used for the treatment of Thyrotoxicosis when medical treatment (anti-thyroid drugs) has failed or cannot be tolerated and surgical treatment is not an option. Our previous audit in 2011 demonstrated substantial adherence to the Royal College of Physicians (RCP) guidelines for Radioiodine treatment, but one patient was lost to follow-up. It was recommended that we improve our re-call system. We aimed to re-audit our service.<p ...

Background: Hyperuricemia is often associated with chronic kidney diseases (CKD) and is considered as an independent risk factor of cardiovascular and renal diseases. Urate transporter 1 (URAT1), organic anion transporter 1 (OAT1) and OAT3 are believed to play pivotal roles on urate excretion in kidneys. Activation of RAAS in the kidney plays a key role in the pathophysiology of CKD. Thus, we hypothesized that RAAS may be involved in hyperuricemia in patients with CKD by effec...

Cancer cells have shown an overexpressed fructose transporter GLUT5 and preferential utilization of fructose as compared to glucose, implicating that a fructose-based analogue would be a useful target for diagnosis and treatment of cancer. We have successfully synthesized the fructose conjugated-gefitinib compounds {N-[4-(3-chloro-4-(3-fluorobenzyloxy)phenylamino)-7-methoxy-quinazolin-6-yl]-4- [N-methyl-N-(1-deoxy-1-fructosyl)]aminobutanamide}, and examined its antitumor effic...

Hypomorphic CYP24A1 protein coding mutations causing inappropriate 1,25(OH)2D concentrations are associated with idiopathic infantile hypercalcemia and adult-onset hypercalciuria and nephrolithiasis. It is unclear why some cases present with CYP24A1-mediated abnormal calcium handling lack protein-coding CYP24A1 mutations. Non-coding region mutations, e.g. the 3’ UTR, impacting messenger RNA (mRNA) structure have rarely been studied in...

Background: Neuroendocrine tumors (NETs; ~2% of all malignancies) commonly arise from the GI tract, pancreas, and lung and often present with metastatic disease. The PI3K/Akt/mTOR pathway is implicated in the pathogenesis and progression of NETs. The oral mTOR inhibitor (mTORi), everolimus, is approved for treatment of patients with NETs of the GI tract, lung, or pancreas. However, due to the rarity and heterogeneity, nonspecific clinical symptoms, and unique indolent biology,...

Background: nab-Sirolimus, approved in the US for patients with advanced malignant PEComa, is a novel albumin-bound mTOR inhibitor (mTORi) that inhibits the mTOR pathway via suppression of the mTORC1 complex. When TSC1 or TSC2 is inactivated via mutation or loss, the mTOR pathway may be aberrantly activated. TSC1 and TSC2 alterations occur in a range of common cancers. Clinically, in the AMPECT exploratory analysis of nab-sirolimus in advanced malignant PEComa (NCT02494570), 8...

Hyperthyroidism in Graves’ disease is due to TSH receptor (TSHR) autoantibodies (TRAb) directed against the TSH binding pocket. Detection of TRAb in clinical rou-tine is performed by 2nd gen assays using human or porcine TSHR. Such TSH bin- ding inhibition immunoglobulin (TBII) assays determine the ability of TRAb to inhi- bit the binding of labelled TSH to immobilized TSHR. TRAb are present in low con- centrations and mostly recognize conformational epitopes. The conform...