Background: Lipodystrophy encompasses a group of rare disorders associated with severe metabolic disease. These disorders are defined by abnormal fat distribution, with near-total (generalized lipodystrophy, GL) or partial (partial lipodystrophy, PL; i.e.
View Article and Find Full Text PDFMonogenic diabetes mellitus (MDM) is a group of relatively rare disorders caused by pathogenic variants in key genes that result in hyperglycemia. Lack of identified cases, along with absent data standards, and limited collaboration across institutions have hindered research progress. To address this, the UChicago Monogenic Diabetes Registry (UCMDMR) and UChicago Data for the Common Good (D4CG) created a national consortium of MDM research institutions called the PREcision DIabetes ConsorTium (PREDICT).
View Article and Find Full Text PDFAfirma Genomic Sequencing Classifier (GSC) testing has been utilized for further risk stratification of thyroid nodules categorized as atypia of undetermined significance (AUS). The 2023 Bethesda system subcategorizes AUS diagnosis into AUS with nuclear atypia (AUS-N) and other atypia (AUS-O). The current study aims to determine if performance of GSC testing differs between the two AUS subcategories and between single AUS cohort and repeat AUS cohort.
View Article and Find Full Text PDFObjective: Glucagon-like peptide 1 receptor agonists (GLP-1RA) are widely used for the management of diabetes mellitus (DM), but their efficacy in familial partial lipodystrophy (FPLD) is unknown. In this retrospective study, we evaluated the effect of GLP-1RA in patients with FPLD.
Research Design And Methods: We analyzed data, reported with SDs, from 14 patients with FPLD (aged 58 ± 12 years; 76.
Objective: The transition from pediatric to adult care for young adults with diabetes represents an important but often challenging time characterized by a shift from a family-centered care model of pediatrics to a patient-centered care model of adult medicine. We developed a structured transition program based on an adult receivership model at a large academic medical center to improve care coordination and patient satisfaction with the transition process.
Methods: From 2016 to 2020, we implemented a series of quality improvement efforts for young adults aged 18 to 23 years with diabetes by incorporating best practices from the American Diabetes Association guidelines on care for emerging adults.
Background: There is limited data comparing the performance of Afirma Genomic Sequencing Classifier (GSC) in thyroid nodules carrying an initial versus a repeat diagnosis of atypia of undetermined significance (AUS). This study reported an institutional experience in this regard.
Materials And Methods: This retrospective study included consecutive thyroid nodules that had an initial or a repeat AUS diagnosis and had a subsequent GSC diagnostic result (benign or suspicious) from 2017 to 2021.
Purpose Of Review: When the Supreme Court handed down its decision in Dobbs v Jackson Women's Health Organization in June 2022, the constitutional right to abortion was no longer protected by Roe v Wade. Fifteen states now have total or near-total bans on abortion care or no clinics providing abortion services. We review how these restrictions affect the medical care of people with pregestational diabetes.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
October 2023
Objective: The coexistence of insulinoma and insulin antibodies is extremely rare. The aim of this novel case report is to inform physicians of the possibility of an insulinoma with concomitant insulin antibodies.
Methods: In this report, we describe a patient with symptomatic hypoglycemia confirmed with a 72-hour fast, who was subsequently found to have an insulinoma with concomitant elevation in his immunoglobulin G insulin antibody titer.
Context: Preoperative imaging is performed routinely to guide surgical management in primary hyperparathyroidism, but the optimal imaging modalities are debated.
Objective: Our objectives were to evaluate which imaging modalities are associated with improved cure rate and higher concordance rates with intraoperative findings. A secondary aim was to determine whether additive imaging is associated with higher cure rate.
Unlabelled: Maturity-onset diabetes of the young, or MODY-monogenic diabetes, is a not-so-rare collection of inherited disorders of non-autoimmune diabetes mellitus that remains insufficiently diagnosed despite increasing awareness. These cases are important to efficiently and accurately diagnose, given the clinical implications of syndromic features, cost-effective treatment regimen, and the potential impact on multiple family members. Proper recognition of the clinical manifestations, family history, and cost-effective lab and genetic testing provide the diagnosis.
View Article and Find Full Text PDFObjective: To identify novel prognostic risk factors and compare them with other known prognostic risk factors in follicular-cell-derived thyroid carcinoma (FDTC) with distant metastases.
Methods: A retrospective review was conducted of adult patients with metastatic FDTC seen at a tertiary care center between January 1990 and December 2010. A 15-year Kaplan-Meier survival estimate was created for overall survival (OS) and cancer-specific survival (CSS).
Purpose Of Review: Machine learning (ML) is increasingly being studied for the screening, diagnosis, and management of diabetes and its complications. Although various models of ML have been developed, most have not led to practical solutions for real-world problems. There has been a disconnect between ML developers, regulatory bodies, health services researchers, clinicians, and patients in their efforts.
View Article and Find Full Text PDFTo determine predictors of prolonged length of stay (LOS), 30-day readmission, and 30-day mortality in a multihospital health system. We performed a retrospective review of 531 adults admitted with diabetic ketoacidosis (DKA) to a multihospital health system between November 2015 and December 2016. Demographic and clinical data were collected.
View Article and Find Full Text PDFTetratricopeptide repeat domain-7A (TTC7A) deficiency causing combined immunodeficiency with inflammatory bowel disease (IBD) is rare. This case report alerts physicians to the possibility of TTC7A deficiency causing combined immunodeficiency with IBD and also highlights some of the current treatment options. We describe a 19-year-old patient with a compound heterozygote mutation causing combined immunodeficiency, IBD, and multiple intestinal atresia.
View Article and Find Full Text PDFIn this review, we have highlighted work that has clearly demonstrated that mitogen-activated protein kinase (MAPK) phosphatase-1 (MKP-1), a negative regulator of MAPKs, is an important signaling mediator in bone, muscle, and fat tissue homeostasis and differentiation. Further, we examined recent studies with particular focus on MKP-1 overexpression or deletion and its impact on tissues connected to bone. We also summarized regulation of MKP-1 by known skeletal regulators like parathyroid hormone (PTH)/PTH-related peptide (PTHrP) and bone morphogenic proteins.
View Article and Find Full Text PDFThe adipocyte-derived hormone adiponectin promotes metabolic and cardiovascular health. Circulating adiponectin increases in lean states such as caloric restriction (CR), but the reasons for this paradox remain unclear. Unlike white adipose tissue (WAT), bone marrow adipose tissue (MAT) increases during CR, and both MAT and serum adiponectin increase in many other clinical conditions.
View Article and Find Full Text PDFDifferentiation of adipocytes from preadipocytes contributes to adipose tissue expansion in obesity. Impaired adipogenesis may underlie the development of metabolic diseases such as insulin resistance and type 2 diabetes. Mechanistically, a well defined transcriptional network coordinates adipocyte differentiation.
View Article and Find Full Text PDFThe genomic architecture of the 10q22q23 region is characterised by two low-copy repeats (LCRs3 and 4), and deletions in this region appear to be rare. We report the clinical and molecular characterisation of eight novel deletions and six duplications within the 10q22.3q23.
View Article and Find Full Text PDFObjectives: A prospective multicenter validation of the ability of 1H magnetic resonance spectroscopic imaging (MRSI) to distinguish cancer from noncancer tissues throughout the prostate with histopathology of the resected organ as the standard of reference.
Materials And Methods: Institutional review board approval was obtained for all centers and all participating patients and volunteers provided written informed consent. Ninety-nine patients and 10 age-matched volunteers from 8 participating centers underwent magnetic resonance imaging and 3-dimensional MRSI with an endorectal coil at 1.
Purpose: To determine the effect of reduced radiation (tube charge, measured as milliamperes per second) protocols on the sensitivity and specificity of multidetector computed tomography (CT) in the detection of renal calculi.
Materials And Methods: This Health Insurance Portability and Accountability Act-compliant human cadaveric study was approved by the Department of Anatomic Pathology with strict adherence to the university policy for handling donor specimens. Three to five renal stones (range, 2.
Purpose: This study assessed the role of specialist optometrists who were working in the community and sharing the care for glaucoma patients with, and under close supervision of, a consultant ophthalmologist working in the Hospital Eye Services (HES) to ensure high-quality standards, safety, and care.
Methods: From February 2005 onwards, the majority of all new glaucoma referrals to our eye department were diverted to our specialist optometrists in glaucoma (SOGs) in their own community practices. Selected patients in the HES setting who were already diagnosed with stable glaucoma were also transferred to the SOGs.