Endocrine System Diseases Commons^™

Haploinsufficiency Of Itsn1 Is Associated With A Substantial Increased Risk Of Parkinson’S Disease, Thomas P Spargo, Chloe F Sands, Isabella R Juan, Jonathan Mitchell, Vida Ravanmehr, Jessica C Butts, Ruth B De-Paula, Youngdoo Kim, Fengyuan Hu, Quanli Wang, Dimitrios Vitsios, Manik Garg, Lawrence Middleton, Michal Tyrlik, Mirko Messa, Guillermo Del Angel, Daniel G Calame, Hiba Saade, Laurie Robak, Ben Hollis, Vishnu A Cuddapah, Huda Y Zoghbi, Joshua M Shulman, Slavé Petrovski, Ismael Al-Ramahi, Ioanna Tachmazidou, Ryan S Dhindsa

Faculty, Staff and Students Publications

Despite its significant heritability, the genetic basis of Parkinson's disease (PD) remains incompletely understood. Here, in analyzing whole-genome sequence data from 3,809 PD cases and 247,101 controls in the UK Biobank, we discover that protein-truncating variants in ITSN1 confer a substantially increased risk of PD (p = 6.1 × 10

Genetic Associations With C-Peptide Levels Before Type 1 Diabetes Diagnosis In At-Risk Relatives, Taylor M Triolo, Hemang M Parikh, Mustafa Tosur, Lauric A Ferrat, Lu You, Peter A Gottlieb, Richard A Oram, Suna Onengut-Gumuscu, Jeffrey P Krischer, Stephen S Rich, Andrea K Steck, Maria J Redondo

Children’s Nutrition Research Center Staff Publications

Objective: We sought to determine whether the type 1 diabetes genetic risk score-2 (T1D-GRS2) and single nucleotide polymorphisms are associated with C-peptide preservation before type 1 diabetes diagnosis.

Methods: We conducted a retrospective analysis of 713 autoantibody-positive participants who developed type 1 diabetes in the TrialNet Pathway to Prevention Study who had T1DExomeChip data. We evaluated the relationships of 16 known single nucleotide polymorphisms and T1D-GRS2 with area under the curve (AUC) C-peptide levels during oral glucose tolerance tests conducted in the 9 months before diagnosis.

Results: Higher T1D-GRS2 was associated with lower C-peptide AUC in the 9 months before …

Effect Of Testosterone Treatment During Puberty In Boys With Klinefelter Syndrome (The Tipy Study): Protocol For A Nationwide Randomised, Double-Blinded, Placebo-Controlled Study, Ida Dyhr Caspersen, Andrés Felipe Østergaard Fritzbøger, Jørgen Holm Petersen, Niels Birkebæk, Ann-Margrethe Rønholt Christensen, Anders Jørgen Schou, Kurt Kristensen, Judith L. Ross, Shanlee Davis, Gary Butler, Sophie Van Rijn, Anders Juul, Lise Aksglaede

Department of Pediatrics Faculty Papers

INTRODUCTION: Klinefelter syndrome (KS) is a genetic condition characterised by the presence of an extra X chromosome in males (47,XXY). KS is associated with various phenotypic characteristics in adult life, including infertility, hypogonadism and increased risk of type II diabetes, cardiovascular disease and osteoporosis. Additionally, individuals with KS often experience mental health challenges and functional impairments that significantly impact their quality of life. Currently, testosterone replacement therapy (TRT) in adolescence is considered the first-line treatment by some physicians for patients with KS and biochemical signs of hypogonadism. However, comprehensive evidence on its effectiveness in preventing typical phenotypic traits associated with …

Unraveling Genetic Links Between Diabetes And Heart Failure-A Machine Learning Approach, Sunakhi Sahoo, Marzieh Ayati

Research Symposium

Background: Diabetic heart failure (DHF) is defined as a chronic and progressive disease which is associated with both diabetes and heart failure (HF). Even though there have been many developments in the knowledge of these diseases, there is still much to learn about the genetic crossovers between the two. In this study, we identified genes that are associated with diabetic heart failure and heart failure by using gene expression data from patients with DHF, HF, and a control group of patients who died of natural causes. We sought to identify genes that had altered expression levels which could possibly play …

Subcutaneous Insulin Aspart Every 4 Hours In The Treatment Of Covid-19 Patients With Mild-To-Moderate Diabetic Ketoacidosis: A Case Series, Dararat Chiewchalermsri, Chayanin Wanittansirichok, Chutintorn Sriphrapradang

Journal of Community Hospital Internal Medicine Perspectives

This case series evaluates the efficacy and safety of subcutaneous (SC) insulin Aspart administered every four hours for managing mild-to-moderate diabetic ketoacidosis (DKA) in COVID-19 patients, addressing a current evidence gap. We conducted a retrospective review of confirmed COVID-19 patients over 15 years old who developed mild to moderate DKA between July 2020 and October 2021. Insulin Aspart was administered at 0.4 units/kg SC every 4 hours, reduced to 0.2 units/kg when blood glucose (BG) decreased to/dL, and SC basal insulin was initiated at 0.15-0.2 units/kg at DKA diagnosis. A total of seven patients, with a mean age of 67.4±13.2 …

Impact Of Diabetes On Fall Related Lower Limb Fractures, Bryce M. Bellon, Daniel Salinas, Patrick De La Torre Shutz, Hunter Butler, Sean Corcoran, Kelsey Baker

Research Symposium

Background: Diabetes is a disorder that affects many Americans, characterized primarily by hyperglycemia due to either insulin resistance or lack of insulin secretion. This condition not only impacts blood sugar levels but also has significant effects on bone health. In diabetes, bone density is often decreased due to reduced osteoblast activity, which is responsible for bone formation, and increased osteoclast activity, which leads to bone resorption. This imbalance accelerates the breakdown of bone. Additionally, diabetics frequently suffer from lower extremity arterial disease (LEAD), which results in poor vascularization of the lower limbs. These factors contribute to an increased risk of …

Comparison Between Maia And Mp-3 In Healthy Subjects And Patients With Diabetes, Diabetic Retinopathy, And Age-Related Macular Degeneration, Anna Marmalidou, Haleema Siddiqui, Muhammad Usman Jamil, Kwang Min Woo, Antonio Yaghy, A. Yasin Alibhai, Hiroyuki Takahashi, Stephanie Kaiser, Keith Effert, Peter Zhao, Shilpa Desai, Christopher Robinson, Jay Duker, Nadia Waheed

SKMC Student Presentations and Publications

PURPOSE: The purpose of this study was to assess the comparability of mean sensitivity (MS) values obtained using the Macular Integrity Assessment (MAIA; CenterVue S.p.A. [iCare], Padova, Italy) and Microperimeter-3 (MP-3; NIDEK CO., Ltd., Gamagori, Japan) microperimetry (MP) devices.

METHODS: This cross-sectional study includes subjects with healthy eyes, eyes with diabetes mellitus without diabetic retinopathy (DM no DR), diabetic retinopathy (DR), and non-exudative age-related macular degeneration (AMD). Patients underwent testing on both MAIA and MP-3 MP devices, using a 10-2 macular grid with 68 stimuli and identical parameters. A diagnosis-adjusted linear regression model and mixed modeling mapped MP-3 MS to …

Erythritol, Erythronate, And Cardiovascular Outcomes In Older Adults In The Aric Study, Layla A Abushamat, Bing Yu, Ron C Hoogeveen, Caroline Sun, Chao Cheng, Sean M Hartig, Mark A Herman, Ashok Balasubramanyam, Jane Eb Reusch, Elizabeth Selvin, Chiadi E Ndumele, Vijay Nambi, Christie M Ballantyne

Faculty, Staff and Student Publications

BACKGROUND: Circulating erythritol, an endogenously produced metabolite and an artificial sweetener, is associated with cardiovascular outcomes.

OBJECTIVES: The authors assessed associations of erythritol and its downstream metabolite, erythronate, with cardiovascular risk factors and events in older adults in the ARIC (Atherosclerosis Risk In Communities) study (visit 5, 2011-2013).

METHODS: We included 4,006 participants without prevalent cardiovascular disease and with metabolomic profiling. Erythritol and erythronate were measured by mass spectrometry. We analyzed associations of log-transformed erythritol and erythronate with cardiovascular risk factors and events using Cox proportional hazard models.

RESULTS: Participants in the highest tertiles of erythritol or erythronate were older, …

Effect Of Vitamin K Supplementation On Insulin Resistance: A Review, Samantha Mccord, Rebecca Willier, Kaitlyn Kirby, Kaylin Mahoney, Lance Dillon, Rileigh Rahrig, Brianna Lu, Joshua Honaker, Emily Eddy

Pharmacy and Wellness Review

Insulin resistance is one of the pathological hallmarks that leads to the development of type II diabetes mellitus (T2DM). Around 40% of people aged 18 to 44 living in the United States have insulin resistance. Recent research, coupled with a better understanding of how vitamin K functions in the body, suggests that this vitamin could potentially help reduce insulin resistance. Vitamin K is not included in the American Diabetes Association (ADA) guidelines for the treatment of insulin resistance, but it has been shown to have some benefits in patients with T2DM. It may also serve as a treatment option for …

Advancing Monogenic Diabetes Research And Clinical Care By Creating A Data Commons: The Precision Diabetes Consortium (Predict), Michael E Mccullough, Lisa R Letourneau-Freiberg, Rochelle N Naylor, Siri Atma W Greeley, David T Broome, Mustafa Tosur, Raymond J Kreienkamp, Erin Cobry, Neda Rasouli, Toni I Pollin, Miriam S Udler, Liana K Billings, Cyrus Desouza, Carmella Evans-Molina, Suzi Birz, Brian Furner, Michael Watkins, Kaitlyn Ott, Samuel L Volchenboum, Louis H Philipson

Faculty, Staff and Students Publications

Monogenic 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). Following the D4CG model, PREDICT has successfully established a multicenter MDM data commons. PREDICT has created a consensus data dictionary that will be utilized to address critical gaps in …

Toward Personalized Digital Experiences To Promote Diabetes Self-Management: Mixed Methods Social Computing Approach, Tavleen Singh, Kirk Roberts, Kayo Fujimoto, Jing Wang, Constance Johnson, Sahiti Myneni

Faculty, Staff and Student Publications

BACKGROUND: Type 2 diabetes affects nearly 34.2 million adults and is the seventh leading cause of death in the United States. Digital health communities have emerged as avenues to provide social support to individuals engaging in diabetes self-management (DSM). The analysis of digital peer interactions and social connections can improve our understanding of the factors underlying behavior change, which can inform the development of personalized DSM interventions.

OBJECTIVE: Our objective is to apply our methodology using a mixed methods approach to (1) characterize the role of context-specific social influence patterns in DSM and (2) derive interventional targets that enhance individual …

Implementing Intermittent Fasting Education For Improved A1c Control In Type 2 Diabetes Patients, Dakota Dalton, Elizabeth White, Malinda Hansen, Tasaduq Mir

North Texas Research Forum 2025

Background: Management of Type 2 Diabetes Mellitus (T2DM) in the UNTHSC Family Medicine clinic varies among residents, with some advocating robust lifestyle counseling and others relying more on medical management. This leads to inconsistencies in patient education and treatment strategies. Lifestyle interventions such as dietary modifications, are unfortunately too often underutilized in the clinic and in primary care in general, despite strong evidence supporting their efficacy in control of both A1C measurements and random fasting blood sugar, and improved prognosis of diabetes. To address this, we have designed and introduced an intermittent fasting (IF) handout as a supplemental standardized educational …

Type 2 Diabetes Education And Knowledge In The Adult Hmong Community, Sheng Yang

Doctor of Nursing Practice Projects

Type 2 Diabetes is a chronic health condition that affects many individuals, but specifically has been found to significantly affect minority population groups. There has been very limited research regarding understanding the etiology of the disease in the Hmong community that migrated to the United States from Southeast Asia. The purpose of this project was to design and implement an evidence-based, culturally appropriate educational intervention in the Hmong language to increase knowledge of Type 2 Diabetes among the adult Hmong community in Burke County and Catawba County, NC areas. The intervention was delivered to a total of 30 participants who …

Managing Thyroid Storm In A 40 Year Old Male Patient: A Case Report, Mark Barkat

Gulf Coast Division GME Research Day 2025

No abstract provided.

The Intersection Of Hypophysitis And Central Diabetes Insipidus: A Clinical Case Report, Sanjana Kesireddy, Brina Gonzalez, Mohan Sengodan

North Texas Research Forum 2025

INTRODUCTION: Hypophysitis can cause damage to the posterior pituitary, which in turn impairs the production or release of ADH, leading to the symptoms of central diabetes insipidus. Without enough ADH, the kidneys cannot concentrate urine, resulting in the symptoms of excessive thirst and urination seen in central diabetes insidious. CASE PRESENTATION: 27 year old female presents with excessive thirst, headache, nausea and vomiting. Patient had increased urine output since endoscopic trans sphenoidal resection of pituatary mass. She was started on desmpressin 0.2mg orally three times a day. Based on urine specific gravity and urine output per hour, IV desmopressin was …

The Effect Of High Frequency Low Amplitude (Hfla) Vibration On Blood Flow - Literature Review, Zara Soomro, Patrick Feng, Olufunmilola Adeleye, Yi Lei, Aaishah Vohra, Malinda Hansen, Michele Mccarroll

North Texas Research Forum 2025

BACKGROUND: Diabetic foot ulcers are a major source of preventable morbidity in adults with diabetes; however, complications impose an increased burden on patients and healthcare systems. Vibration therapy is a potential new modality for DFU treatment, which may be more accessible to individuals. Literature pertaining to the effect of high-frequency low amplitude (HFLA) vibrotherapy on wound healing needs a literature review to help synthesize and integrate the empirical studies' results. The purpose of this study is to review how vibration physiology relates to skin blood flow which impacts wound healing based on previous studies. METHODS: A selective literature review was …

Improving Knowledge And Confidence On Interpreting And Analyzing Dexcom Cgm Data Among Residents, Ashley Charales, Anusha Putta, Aashka Patel, Renu Thomas, Syed Basit Haider

Gulf Coast Division GME Research Day 2025

No abstract provided.

Humoral Influences On The Heart: A Case Of Overt Hypothyroidism And Dilated Cardiomyopathy With Acute Heart Failure, Shana-Kay Lambert-Johnson, Rui Zhang, Brian Yu, Tasaduq Mir

North Texas Research Forum 2025

BACKGROUND/INTRODUCTION: Dilated cardiomyopathy (DCM) affects approximately 7 in 100,000 adults annually, with a mortality rate of 50%. It is typically idiopathic, progressive, and irreversible. However, in the context of hypothyroidism, DCM can be reversible. Hypothyroid-induced DCM with coexisting systolic dysfunction is a rare occurrence. This case report presents an exceptional instance of this phenomenon, highlighting the critical role of thyroid hormone replacement in improving patient outcomes. CASE PRESENTATION: A 48-year-old female with a medical history of hypothyroidism (post-thyroidectomy) was transferred for higher-level care due to new-onset heart failure. Over the past five months, she experienced worsening dyspnea on exertion, fatigue, …

Delayed Diagnosis Of Severe Hypercalcemia Due To Parathyroid Adenoma In A 59-Year-Old Woman Without Primary Care, Adeola Togun

East Florida Division GME Research Day 2025

No abstract provided.

Thyrotoxic Periodic Paralysis And Pesticide Exposure, Vinh Ngo, Huy Vuong, Oscar Garcia

Central & West Texas and San Antonio GME Research Day 2025

No abstract provided.