IMPE Abstracts

Objectives/Background: Type 1 Diabetes (T1D) manifests as a loss of insulin secretion due to autoimmune destruction of β-cells by self-reactive T effector lymphocytes. Suppression of autoreactive T effectors by regulatory T cells (Tregs) is a key mechanism of peripheral self-tolerance. T1D subjects have documented numerical and functional Tregs impairment. Recent early-stage clinical trials with adoptively transferred ex vivo-expanded autologous Tregs sho...

Perceived diabetes stigma (PDS) has been associated with worse clinical and psychosocial outcomes in adults. Our objective was to examine the associations between PDS, glycemic control, diabetes complications, psychosocial variables, and substance use in adolescents and young adults (AYAs) with type 1 diabetes (T1D) and type 2 diabetes (T2D) in the SEARCH for Diabetes in Youth study, 2016-2019. We hypothesized that greater PDS was associated with worse glycemic control, greate...

Type 1 diabetes (T1D) is associated with low bone and muscle mass, increased fracture risk and impaired skeletal muscle function. Myostatin (GDF8), a myokine that is systemically elevated in humans with T1D, negatively regulates muscle mass and bone formation. We investigated whether an inhibitory myostatin antibody in streptozotocin (STZ)-induced diabetes mouse model is protective for bone and skeletal muscle. DBA/2J male mice (n=9 -10/group) were injected with low-d...

Background: Emerging scientific evidence has revealed the connection between iron metabolism and type 2 diabetes mellitus. The liver is the major iron storage organ and is considered a marker of total body iron stores. Liver biopsy is invasive and biased, therefore iron measurement by magnetic resonance imaging (MRI) has emerged as a widely accepted method. Actually, there are no studies evaluating the presence of hepatic iron overload in patients with youth-o...

Background: Congenital adrenal hyperplasia (CAH) is due to defects of steroid synthetic enzymes, which includes microsomal and mitochondrial P450s. P450 enzymes need coenzymes respectively. Microsomal P450s include 21-hydroxylase need P450 oxidoreductase which coded by POR. 21-hydroxylase deficiency (21-OHD), in which CYP21A2 is mutated or deleted, is the most common cause of CAH and results in underproduction of glucocorticoids and mineralocorticoids, and ove...

Nuclear receptor subfamily 5 group A member 1 (NR5A1), is a member of the nuclear receptor family. It plays a crucial role in transcriptional regulation of genes involved in steroidogenesis, gonadal development and reproduction. NR5A1 mutations represent one of the most frequent defects associated with 46,XY gonadal dysgenesis, associated with a wide phenotypic spectrum of DSD. Some patients with mutations in the NR5A1 may have normal testosterone le...

Introduction: The genetic polymorphisms in CYP21A2, the responsible gene of 21-hydroxylase deficiency (21OHD), are mostly generated by intragenic recombination with the adjacently located pseudogene, CYP21A1P, which shares 98% homologous sequences with CYP21A2. Gene conversion of the CYP21A2 region cannot be identified by usual PCR and Sanger sequencing, because of complicated cross-contamination of CYP21A1P. Next-g...

Background: Catecholamines and its O-methylated metabolites in urine are useful biomarkers for diagnosis of Pheochromocytoma and Paraganglioma (PPGL). Recently, liquid chromatography coupled to tandem mass spectrometry (UHPLC-MSMS) has become the technique that allows the development of analytical methodologies for the specific, precise, and simultaneous determination of different analytes.Objective: To develop and valid...

Mitotane (o, P'–DDD) is the drug of choice for adrenocortical carcinomas (ACC) and its measurement in plasma is essential to control drug administration.Objective: To develop and validate a simple, reliable and straightforward method for Mitotane determination in plasma samples.Method: Drug free plasma samples were collected in potassium-ethylenediamine tetraacetate (K-EDTA) tub...

Background: Cortisol level in human follows circadian rhythm. In surveillance for potential cortisol deficiency in at risk population, for instance, in cancer survivors who received cranial irradiation, the screening will be checking 8am morning cortisol. Often, it is too early for patients to attend the clinic for blood sampling, especially for those living far away. This study aims to delineate the correlation of dried blood spot cortisol with plasma cortiso...