Endocrinology, Diabetes, and Metabolism Commons^™

Novel Pathogenic Cerkl Variant In Iranian Familial With Inherited Retinal Dystrophies: Genotype–Phenotype Correlation, Shangyi Fu, Jiewen Fu, Abdolkarim Mobasher-Jannat, Khosrow Jadidi, Yumei Li, Rui Chen, Saber Imani, Jingliang Cheng

Faculty, Staff and Students Publications

Inherited retinal dystrophies (IRDs) include a large chronic heterogeneity genetic disease. While many disease-causing pathogenic variants were involved in the progression of IRD, the Ceramide Kinase Like (CERKL) gene variant in Iranian patients is not well characterized. In this study, a consanguineous Iranian family with three generations was recruited whom presented with the clinical diagnosis of autosomal recessive IRD. By targeted next-generation sequencing (TGS) and Sanger sequencing, the proband was found to have a novel, pathological homozygous deletion variant c.560_568del (p.187_190del) of the CERKL gene (NM_001030311.2) that co-segregated with the disease in all affected family members. …

Genetic Studies Of Paired Metabolomes Reveal Enzymatic And Transport Processes At The Interface Of Plasma And Urine, Pascal Schlosser, Nora Scherer, Franziska Grundner-Culemann, Sara Monteiro-Martins, Stefan Haug, Inga Steinbrenner, Burulça Uluvar, Matthias Wuttke, Yurong Cheng, Arif B Ekici, Gergely Gyimesi, Edward D Karoly, Fruzsina Kotsis, Johanna Mielke, Maria F Gomez, Bing Yu, Morgan E Grams, Josef Coresh, Eric Boerwinkle, Michael Köttgen, Florian Kronenberg, Heike Meiselbach, Robert P Mohney, Shreeram Akilesh, Gckd Investigators, Miriam Schmidts, Matthias A Hediger, Ulla T Schultheiss, Kai-Uwe Eckardt, Peter J Oefner, Peggy Sekula, Yong Li, Anna Köttgen

Faculty, Staff and Students Publications

The kidneys operate at the interface of plasma and urine by clearing molecular waste products while retaining valuable solutes. Genetic studies of paired plasma and urine metabolomes may identify underlying processes. We conducted genome-wide studies of 1,916 plasma and urine metabolites and detected 1,299 significant associations. Associations with 40% of implicated metabolites would have been missed by studying plasma alone. We detected urine-specific findings that provide information about metabolite reabsorption in the kidney, such as aquaporin (AQP)-7-mediated glycerol transport, and different metabolomic footprints of kidney-expressed proteins in plasma and urine that are consistent with their localization and function, including the …

Quality Of Glycemic Control In Type 2 Diabetes Mellitus (T2dm) And Its Association With Markers Of Coagulation And Inhibitors Of Fibrinolysis: A Case–Control Study In The Upper West Region, Ghana, Peter K. Selleh, Enoch O. Anto, Wina I. O. Boadu, Benedict Sackey, Lilian A. Boateng, Charles Nkansah, Frederick Nsafoah, Abdul R. Saasi, Selina Mintaah, Yaw A. Wiafe, Charles Derigubah, Emmanuel E. Korsah, Joseph Frimpong, Ezekiel Ansah, Valentine C. K. T. Tamakloe, Patrick Adu, Joseph Boachie, Otchere Addai-Mensah

Research outputs 2022 to 2026

Background and Aims: Type 2 diabetes mellitus (T2DM) individuals are at a higher risk of developing diabetes complications, with approximately 80% complication-related mortality. The increased morbidity and mortality among T2DM patients are partly due to dysregulated hemostasis. This study determined the quality of glycemic control in T2DM and its association with markers of coagulation and inhibitors of fibrinolysis. Methods: This case–control study recruited 90 participants involving: 30 T2DM patients with good glycemic control, 30 with poor glycemic control, and 30 nondiabetic subjects as controls at a Municipal Hospital in Ghana. Fasting blood glucose, glycated hemoglobin, activated partial thromboplastin time (APTT), …

Lateral Septum As A Melanocortin Downstream Site In Obesity Development, Yuanzhong Xu, Zhiying Jiang, Hongli Li, Jing Cai, Yanyan Jiang, Joshua Otiz-Guzman, Yong Xu, Benjamin R Arenkiel, Qingchun Tong

Faculty, Staff and Students Publications

The melanocortin pathway is well established to be critical for body-weight regulation in both rodents and humans. Despite extensive studies focusing on this pathway, the downstream brain sites that mediate its action are not clear. Here, we found that, among the known paraventricular hypothalamic (PVH) neuron groups, those expressing melanocortin receptors 4 (PVHMc4R) preferably project to the ventral part of the lateral septum (LSv), a brain region known to be involved in emotional behaviors. Photostimulation of PVHMc4R neuron terminals in the LSv reduces feeding and causes aversion, whereas deletion of Mc4Rs or disruption of glutamate release from LSv-projecting PVH neurons …

An Assessment Of How Clinicians And Staff Members Use A Diabetes Artificial Intelligence Prediction Tool: Mixed Methods Study, Winston R Liaw, Yessenia Ramos Silva, Erica G Soltero, Alex Krist, Angela L Stotts

Children’s Nutrition Research Center Staff Publications

Background: Nearly one-third of patients with diabetes are poorly controlled (hemoglobin A1c≥9%). Identifying at-risk individuals and providing them with effective treatment is an important strategy for preventing poor control.

Objective: This study aims to assess how clinicians and staff members would use a clinical decision support tool based on artificial intelligence (AI) and identify factors that affect adoption.

Methods: This was a mixed methods study that combined semistructured interviews and surveys to assess the perceived usefulness and ease of use, intent to use, and factors affecting tool adoption. We recruited clinicians and staff members from practices that manage diabetes. During …

Assessing The Effects Of Health Insurance Status On Compliance With Diabetes Care, Sara L. Colosimo, Leann N. Petschonek, Uvina S. Allen, Dominique L. Rogers, Sericea Stallings-Smith

Florida Public Health Review

Background: Diabetes is a chronic disease that affects millions of people in the United States. Compliance with treatment plans is important for preventing life-threatening complications of the disease. However, many diabetics forgo recommended testing and other management standards due to lack of health insurance.

Purpose: This study aims to assess the effect of health insurance status on compliance with diabetes care.

Methods: This study was a secondary analysis using 2005–2018 National Health and Nutrition Examination Survey data. For participants who reported having diabetes, compliance with care was assessed based on insurance status. Compliance indicators included hemoglobin A1C check by …

Epidemiology Of Island And Mainland Populations: How Does Culture Influence Health Risk Factors Of Non-Communicable, Chronic, And Metabolic Diseases?, Jake Thomas D. Palisoc

Honors Projects

Non-communicable diseases (NCDs), including chronic and metabolic diseases, are responsible for 74% of global mortality and are strongly influenced by health risk factors. Geographical differences in NCDs have been identified in several countries but have not been completely explained through cultural factors, specifically island and mainland cultures. This study aimed to develop an epidemiological framework for determining diseases with the highest mortality for further investigation regarding different health risk factors rooted in a specific population’s cultural foundations. Preliminary findings indicated diabetes type II (D2) and CKD caused by hypertension and D2 to have the highest risk factor and mortality percentage …

Parent Perspectives Of School/Daycare Experiences In Young Children Newly Diagnosed With Diabetes, Alexa Stern, Brenda Duran, Randi Streisand, Christine H Wang, Carrie Tully, Lauren Clary, Katherine Gallagher, Fran Cogen, Lefkothea Karaviti, Maureen Monaghan, Marisa E Hilliard

Faculty, Staff and Students Publications

OBJECTIVE: A central part of family adjustment to a new diagnosis of type 1 diabetes (T1D) is integrating T1D management into the child's school/daycare. This may be particularly challenging for young children who rely on adults for their diabetes management. This study aimed to describe parent experiences with school/daycare during the first 1.5 years following a young child's T1D diagnosis.

METHODS: As part of a randomized controlled trial of a behavioral intervention, 157 parents of young children with new-onset (<2 >months) T1D reported on their child's school/daycare experience at baseline and at 9- and 15-month post-randomization. We used a mixed-methods …

Association Of Type 2 Diabetes Subgroups With Cognitive Status Without Modification From Lifestyle Intervention, Michael P Bancks, James Lovato, Ashok Balasubramanyam, Mace Coday, Karen C Johnson, Medha Munshi, Candida Rebello, Lynne E Wagenknecht, Mark A Espeland

Faculty, Staff and Students Publications

CONTEXT: Type 2 diabetes is a risk factor for incident dementia but whether risk and treatment/prevention strategies differ by diabetes subgroup is unknown.

OBJECTIVE: We assessed (1) whether specific type 2 diabetes (T2D) subgroups are associated with mild cognitive impairment (MCI) or probable dementia (PD), and (2) whether T2D subgroups modified the association of the Action for Health in Diabetes (Look AHEAD) multidomain intensive lifestyle intervention (ILI) with MCI/PD.

METHODS: We included 3760 Look AHEAD participants with T2D and overweight or obesity randomly assigned to 10 years of ILI or diabetes support and education. We used k-means clustering techniques with …

Traf4-Mediated Nonproteolytic Ubiquitination Of Androgen Receptor Promotes Castration-Resistant Prostate Cancer, Ramesh Singh, Huan Meng, Tao Shen, Lance Edward V Lumahan, Steven Nguyen, Hong Shen, Subhamoy Dasgupta, Li Qin, Dileep Karri, Bokai Zhu, Feng Yang, Cristian Coarfa, Bert W O'Malley, Ping Yi

Faculty, Staff and Students Publications

Castration-resistant prostate cancer (CRPC) poses a major clinical challenge with the androgen receptor (AR) remaining to be a critical oncogenic player. Several lines of evidence indicate that AR induces a distinct transcriptional program after androgen deprivation in CRPCs. However, the mechanism triggering AR binding to a distinct set of genomic loci in CRPC and how it promotes CRPC development remain unclear. We demonstrate here that atypical ubiquitination of AR mediated by an E3 ubiquitin ligase TRAF4 plays an important role in this process. TRAF4 is highly expressed in CRPCs and promotes CRPC development. It mediates K27-linked ubiquitination at the C-terminal …

Correction Of T-Cell Repertoire And Autoimmune Diabetes In Nod Mice By Non-Myeloablative T-Cell Depleted Allogeneic Hsct, Rakefet Sidlik Muskatel, Bar Nathansohn-Levi, Shlomit Reich-Zeliger, Michal Mark, Liat Stoler-Barak, Chava Rosen, Irit Milman-Krentsis, Esther Bachar Lustig, Robert Pete Gale, Nir Friedman, Yair Reisner

Faculty, Staff and Student Publications

The induction of partial tolerance toward pancreatic autoantigens in the treatment of type 1 diabetes mellitus (T1DM) can be attained by autologous hematopoietic stem cell transplantation (HSCT). However, most patients treated by autologous HSCT eventually relapse. Furthermore, allogeneic HSCT which could potentially provide a durable non-autoimmune T-cell receptor (TCR) repertoire is associated with a substantial risk for transplant-related mortality. We have previously demonstrated an effective approach for attaining engraftment without graft versus host disease (GVHD) of allogeneic T-cell depleted HSCT, following non-myeloablative conditioning, using donor-derived anti-3rd party central memory CD8 veto T cells (Tcm). In the present study, we investigated …

Inpatient Insulin Management For Severe Hypertriglyceridemia In Pediatrics, Erica Wee, Ryan Mcdonough, Matthew M. Feldt

Research Days

Background: Severe hypertriglyceridemia (SHTG) is defined as triglyceride (TG) >= 1000 mg/dL and increases the risk of developing acute pancreatitis. Insulin activates lipoprotein lipase which accelerates chylomicron degradation leading to a rapid decrease in TG levels. There is a paucity of pediatric standard of care for insulin use to treat SHTG.

Objectives/Goal: Our objective was to develop a protocol to standardize SHTG management using insulin infusion and decrease the duration of SHTG resolution while preventing hypoglycemia.

Methods/Design: Endocrinology, Evidence-Based Practice, Hospital Medicine, Critical Care, Gastroenterology, Pharmacy, and Nursing met to develop the protocol. Pediatric and adult literature were reviewed, and …

Telehealth And Its Impact On The Management Of Type 2 Diabetes Mellitus, Melissa N. Toulios

Evidence-Based Practice Project Reports

Diabetes mellitus type 2 (T2DM) is a growing epidemic that affects millions of people throughout the world. The recent COVID-19 pandemic has created many new challenges, including access to health care for treatment of chronic diseases, such as diabetes (Robson & Hosseinzadeh, 2021). Telehealth has offered a promising approach to improve the management of diabetes(Bellman, 2021). People with diabetes are less likely to manage their diabetes through the usual care because of risk of contracting COVID-19 (CDC, 2022). The purpose of this EBP project was to evaluate the effectiveness of T2DM management through a telehealth approach. This project has addressed …

The Possible Relationship Of Adiponectin And Gestational Weight Gain During Different Stages Of Pregnancy Amongst Different Ethnic Groups, Jayshree Chauhan, Xinhua Chen

Rowan-Virtua Research Day

Introduction: Gestational Weight Gain (GWG) is defined as weight gain between conception and birth. Adiponectin, a fat derived hormone, has an inverse relationship with weight gain. We investigated the relationship of maternal adiponectin concentration and GWG during different pregnancy stages among ethnic groups. Method: Serum adiponectin levels were measured at entry (week 16) and trimester three (week 28) in pregnant women (n = 1634, age 22.0±5.3, pre-pregnancy BMI 25.7±6.3) which included Hispanic (47%), African American (37%) and Caucasian (16%) women. GWG was measured at week 24, 28, 32, and delivery and was divided into inadequate, adequate, and excessive according to …

Evaluation Of Outcome Following Oocyte Retrieval In Women With Marked Diminished Oocyte Reserve (Dor) Where The Only Oocyte Retrieved Was In A Metaphase I State, Brooke Neumann, Jerome Check, Carrie Wilson, Donna Summers, Kathleen Hollahan

Rowan-Virtua Research Day

OBJECTIVE: To determine if there is value in culturing a metaphase I oocyte to metaphase II followed by intracytoplasmic sperm injection (ICSI), fertilization, then embryo transfer (ET) in women with marked DOR. MATERIALS AND METHODS: A follicle stimulating hormone (FSH) receptor up-regulation technique was used in women whose day 3 serum FSH levels were >12 mIU/mL and/or the serum anti-mullerian (AMH) level was <1ng/mL to mature antral follicle(s) to the dominant follicle stage (average diameter >18) and serum estradiol (E2) >200pg/mL when 10,000 IU human chorionic gonadotropin (hCG) would be given followed by oocyte retrieval 32 hours later. The basic tenet of this follicle maturation technique is to 1) use very little …

Global Comparison Of Health Policies Focused On Gestational Diabetes: Recognizing Pertinent Gaps, Muskanjot Kaur, Isvita Marfatia, Samarth Gupta, Swetha Sundaram, Anudeep Deevi, Venkat Venkataraman

Rowan-Virtua Research Day

Introduction: Gestational diabetes mellitus (GDM) is a condition that affects 14.7% of women globally and occurs when a mother develops diabetes during the course of her pregnancy.1 Increased insulin resistance in pregnant mothers can lead to further complications, such as a larger baby, increased risk of the baby developing Type II diabetes, having low blood sugar, and even premature birth, which can lead to respiratory issues. The lack of policies in place to address GDM in various countries worldwide highlights the need for this literature. It is necessary to compile policies that are currently in place and to further discuss …

Immigration Status And Household Income As Predictors Of Childhood Obesity, Bhaumik Patel, Jeffery Powers

Rowan-Virtua Research Day

Childhood obesity rates have been on a remarkably steep rise in recent years. According to recent literature, the rate in the United States alone has more than doubled compared to other regions in the world such as Australia, Canada and Europe1,2 . Especially in the African immigrant community, there has been speculation of a higher prevalence of childhood obesity in the United States3 . This warranted further investigation into demographic factors impacting childhood obesity rates and their subsequent consequences with other clinical diseases such as diabetes and heart disease. The CDC reports that in 2011-2014, among individuals ages 2 to …

Clinical Practice Workflow Implementation For The Improvement Of Diabetic Metric Compliance, Sugosh Anur, Sohil Khanna, Alison Mancuso, Alexander Kowalski

Rowan-Virtua Research Day

Recent guidance suggests the management of screen-detected diabetes can be optimized using multifactorial interventions to improve overall disease burden, patient outcomes, and cost-savings. We explored preventive diabetic care and implemented interventions to increase recommended testing compliance among patients with Type II Diabetes Mellitus. This study employed a multi-faceted approach beginning with the distribution of surveys to patients in the Stratford Family Medicine Office in order to gauge their health literacy level pertaining to Diabetes management. Patient electronic medical records were evaluated to determine baseline levels for all laboratory values. Data analysis was completed using Statistical Package for the Social Sciences …

The Effects Of Obesity And Diabetes On The Pediatric Population, Keyur Patel, Vrushank Shah, Zachary Harris, Kanad Mukherjee

Rowan-Virtua Research Day

The World Health Organization has declared diabetes (DM) and Obesity to be epidemics due to their rising prevalence. Obesity plays a role in the aetiopathogenesis of type 2 diabetes, the most common type of diabetes in the world, as well as the development of its complications. Obesity and overweight play a growing role in type 1 diabetes. Weight gain is often thought of as a side effect of insulin therapy, but it also has a significant pathophysiological impact at different stages of the disease. (1) In the United States and other nations across the world, childhood obesity has become a …

Pregnancy Outcome With In Vitro Fertilization-Embryo Transfer According To Age In Women With Diminished Oocyte Reserve (Dor) Using A Follicle Stimulating Hormone Receptor Up-Regulation Technique, Brooke Neumann, Jerome Check, Carrie Wilson, Michael Sobel, Jung Choe

Rowan-Virtua Research Day

Objective: About 18 years ago, one of the top IVF centers published a study and found that women with DOR did not have any live deliveries at any age in women with a day 3 serum FSH exceeding 18 mIU/mL. The failure to achieve a live delivery may have been related to the ovarian hyperstimulation regimen with possible down regulation of the FSH receptor needed to produce a key enzyme needed for successful implantation. The purpose of this 25-year retrospective review was to evaluate the efficacy of a specific type of mild stimulation referred to as the FSH receptor up-take …