Diseases Commons^™

Adipose Tissue Dysfunction And Energy Balance Paradigms In People Living With Hiv, Claudia E Ramirez Bustamante, Neeti Agarwal, Aaron R Cox, Sean M Hartig, Jordan E Lake, Ashok Balasubramanyam

Faculty, Staff and Students Publications

Over the past 4 decades, the clinical care of people living with HIV (PLWH) evolved from treatment of acute opportunistic infections to the management of chronic, noncommunicable comorbidities. Concurrently, our understanding of adipose tissue function matured to acknowledge its important endocrine contributions to energy balance. PLWH experience changes in the mass and composition of adipose tissue depots before and after initiating antiretroviral therapy, including regional loss (lipoatrophy), gain (lipohypertrophy), or mixed lipodystrophy. These conditions may coexist with generalized obesity in PLWH and reflect disturbances of energy balance regulation caused by HIV persistence and antiretroviral therapy drugs. Adipocyte hypertrophy characterizes visceral …

A Greb1-Steroid Receptor Feedforward Mechanism Governs Differential Greb1 Action In Endometrial Function And Endometriosis, Sangappa B Chadchan, Pooja Popli, Zian Liao, Eryk Andreas, Michelle Dias, Tianyuan Wang, Stephanie J Gunderson, Patricia T Jimenez, Denise G Lanza, Rainer B Lanz, Charles E Foulds, Diana Monsivais, Francesco J Demayo, Hari Krishna Yalamanchili, Emily S Jungheim, Jason D Heaney, John P Lydon, Kelle H Moley, Bert W O'Malley, Ramakrishna Kommagani

Faculty, Staff and Students Publications

Cellular responses to the steroid hormones, estrogen (E2), and progesterone (P4) are governed by their cognate receptor's transcriptional output. However, the feed-forward mechanisms that shape cell-type-specific transcriptional fulcrums for steroid receptors are unidentified. Herein, we found that a common feed-forward mechanism between GREB1 and steroid receptors regulates the differential effect of GREB1 on steroid hormones in a physiological or pathological context. In physiological (receptive) endometrium, GREB1 controls P4-responses in uterine stroma, affecting endometrial receptivity and decidualization, while not affecting E2-mediated epithelial proliferation. Of mechanism, progesterone-induced GREB1 physically interacts with the progesterone receptor, acting as a cofactor in a positive feedback …

Advancing Treatment In Atopic Dermatitis: A Comprehensive Review Of Clinical Efficacy, Safety, And Comparative Insights Into Corticosteroids, Calcineurin Inhibitors, And Phosphodiesterase-4 Inhibitors As Topical Therapies, Tyler D. Hernandez, Sarah J. Aleman, Maria Bao-Loc-Trung, Michael V. Forte, William Brandt, Catherine Armstrong, Jeffrey Howard, Chizoba N. Mosieri, Shahab Ahmadzadeh, Giustino Varrassi, Sahar Shekoohi, Alan D. Kaye

School of Medicine Faculty Publications

Atopic dermatitis (AD) is a pervasive and multifaceted dermatological disorder causing daily distress to afflicted individuals worldwide. This comprehensive review synthesizes the historical and contemporary advancements in therapeutic strategies, offering a critical analysis of their efficacy, safety profiles, and adaptability. The enduring role of topical corticosteroids in managing AD is examined, acknowledging their potent anti-inflammatory properties alongside their potential adverse side effects, particularly in extended usage. The article explores the utilization of topical calcineurin inhibitors like tacrolimus and pimecrolimus, highlighting their novel anti-inflammatory pathways while also scrutinizing concerns over potential malignancies that relegate them to second-line therapy. The present investigation …

Streptococcus Canis Native Aortic Valve Endocarditis Linked To Cat Exposure: A Case Report And Review, Michael S. Wang, Maria Huaringa, Lauren Feld, Ken Ochiai, Tiffany Whelan, Nicholas M. Frazier

Journal of Community Hospital Internal Medicine Perspectives

Streptococcus canis is an uncommon human pathogen, but documented infections have been mostly associated with exposure to dogs. There are only five documented cases of endocarditis secondary to streptococcus canis, with all cases except one documenting exposure to a canine. We present a 74-year-old male with a history of Type 2 diabetes mellitus, CKD 3, moderate aortic stenosis and remote exposure to agent orange, who was found to have Streptococcus canis native valve endocarditis without exposure to a dog. To the best of our knowledge this case is the first case of endocarditis linked to feline exposure.

The Effects Of Curcumin On Erα, P53, And P21 In The Mcf-7 Breast Cancer Cell Line, Samantha E. Pfiffner, Mia Morse, Erin Hallman, Kaylin Whittaker, Aisha Zanib, Sumi Dinda Ph.D.

Medical Student Research Symposium

Curcumin is a golden-yellow flavonoid compound derived from the turmeric plant root that has been used in Chinese and Indian medicine for centuries. Curcumin has been shown to have antioxidant and anti-inflammatory properties, and because of this, has been gaining traction in the field of cancer research. Breast cancer is the most commonly diagnosed cancer in women, and is the second leading cause of cancer death in women, next to lung cancer. Because of the prevalence and mortality of breast cancer, possible therapeutics must be investigated. Due to the beneficial properties of curcumin and pervasiveness of breast cancer, we have …

The Utility Of Non-Specific Ecg Findings In The Setting Of Low High-Sensitivity Cardiac Troponin Levels, Arqam Husain, Nathan Klausner, Emily Schwab, Joseph Miller, Kaab Husain

Medical Student Research Symposium

Objective: Our objective was to assess the relationship between non-specific ischemic electrocardiogram (nsi-ECG) findings and the occurrence of major adverse cardiac events (MACE) within a 30-day timeframe among patients in the Emergency Department (ED) with low high-sensitivity cardiac troponin (hs-cTnI) levels.

Methods: We conducted a secondary analysis of the RACE-IT trial, a randomized trial performed across 9 EDs from July 2020 through March 2021 that looked at the effectiveness of hs-cTnI in evaluating the risk for acute myocardial infarction (AMI). Our study assessed the association between nsi-ECG findings (left bundle branch block, ST-segment changes, or T-wave inversions) and 30-day MACE …

Pessary Use In Urology Clinics, Kathy Z. Lu Bs, Emily Brodowsky Md, Alex Stephens Ms, Samantha Raffee Md, Humphrey Atiemo Md

Medical Student Research Symposium

Introduction: Pessaries are a non-invasive treatment option for patients with pelvic organ prolapse (POP) or stress urinary incontinence (SUI). There is currently limited data regarding pessary usage among urology patients. The aim of this study is to determine the patient characteristics that predict long term pessary usage versus surgical intervention.

Methods: A 10-year retrospective review of pessary usage in women with either SUI or POP was performed. Patients were stratified into pessary longevity of less than or greater than one year. Quality of life measures before and after pessary use included pads per day, incontinence symptom index (ISI) scores, and …

A Review Of The Efficacy Of Popular Eye Cream Ingredients, Hanin Hamie, Reem Yassine, Rajaa Shoukfeh, Dilara Turk, Farhan Huq, Meena Moossavi

Medical Student Research Symposium

Every year, there are new products on the market advertised to preserve a youthful appearance and reduce the signs of aging. One classic example is eye cream. Due to the periorbital region’s high susceptibility to damage from external factors, along with its tendency to demonstrate early signs of aging, periorbital skin is a common target for anti-aging therapy. While some of these ingredients have proven efficacious in clinical trials, others have not shown to be clinically significant. Various products contain different combinations, formulations, and doses of these ingredients. This review evaluates the efficacy of popular topical ingredients found in common …

Assessing Post-Operative Complications In Pediatric Cochlear Implant Surgery, Nina Brahmbhatt, Andrew Stefan Md, Bianca Siegel Md

Medical Student Research Symposium

Cochlear implantation (CI) surgery is the standard of care treatment for pediatric patients diagnosed with severe-to-profound sensorineural hearing loss. There is compelling evidence that supports the use of CIs to improve hearing, language comprehension, and speech development significantly in children of all ages. While the operation is considered relatively safe, invasive procedures involving the skull can put patients at risk of adverse events.

This study aims to help pediatric otolaryngologists identify high risk patients and take preventative measures to ensure minimal complications.

The specific objectives include the following:

1) To determine the incidence of postoperative complications in pediatric patients undergoing …

Clinical Pathway Using Arabic Written Medical Information To Improve Incontinence Healthcare Utilization, John F. Knapp, Codrut Radoiu, Emma Ross, Jack Vercnocke Md, Aron Liaw Md, Nivedita Dhar

Medical Student Research Symposium

Introduction and Objective: Metro Detroit holds ~13% of all Arabic speakers in the U.S.A. and 91% of those in Michigan. Evidence supports that patients who do not speak the local language have poor access to healthcare. This study describes our preliminary experience of managing Arabic only speaking women with bothersome stress urinary incontinence (SUI) from May 2022 to October 2023. These women routinely request same-sex interpreters, which is not always possible, leading to a lack of detailed translation. A potential solution is to use Arabic written medical information (AWMI). The purpose of the study was to retrospectively look at the …

The Utility Of Interventional Anesthesia, Kylie Daguio, Kiley Jackson, Samantha Boever, Andrew Chang, James Keane, Leonard B. Goldstein

SOMA Faculty Publications

no abstract

Prevalence And Risk Factors Of Vernal Keratoconjunctivitis Among A Ghanaian Clinical Cohort: A Case-Control Study, Samuel Kyei, Mary Nkansah, Kofi Asiedu, Randy Asiamah, Ebenezer Zaabaar, Ebenezer Afrifa-Yamoah

Research outputs 2022 to 2026

Background: Vernal Keratoconjunctivitis (VKC) has been determined to be highly prevalent in countries within the tropical climate region. However, little evidence from studies conducted within this region has been put forward to support this claim. Aim: To determine the prevalence and risk factors of VKC among a Ghanaian clinical cohort. Methods: A 3-year case-control study was conducted in a tertiary eye care institution, and medical records of patients who had been diagnosed of VKC between 2018 and 2021 were reviewed. Results: Medical records of 3800 patients were reviewed. Some (Formula presented.) cases of VKC were identified, with a population prevalence …

Virtual Reality For Pain Management During High-Resolution Manometry: A Randomized Clinical Trial, Ilan Palte, Sarah Stewart, Hal Rives, James A Curtis, Necati Enver, Andrew Tritter, Katerina Andreadis, Valentina Mocchetti, Felice Schnoll-Sussman, Amir Soumekh, Rasa Zarnegar, Philip Katz, Anaïs Rameau

Faculty, Staff and Student Publications

Objective: High-resolution esophageal manometry (HRM) is the gold standard for the diagnosis of esophageal motility disorders. HRM is typically performed in the office with local anesthesia only, and many patients find it unpleasant and painful. The aim of this study was to examine the effects of the use of a virtual reality (VR) headset on pain and anxiety outcomes in patients with dysphagia undergoing HRM.

Methods: Patients with dysphagia were prospectively recruited and randomized to undergo HRM with and without VR distraction. Data collected included the State-Trait Anxiety Inventory-6 (STAI-6), the Short-Form McGill Pain Questionnaire, heart rate, and galvanic skin …

Wnt5b As A Therapeutic Target For Osteosarcoma Stemness, Metastasis, And Chemoresistance, Rachel S. Perkins

Alternative Theses and Dissertations (AETDs)

Osteosarcoma is a pediatric bone cancer that has no targeted therapy and has had no treatment advances for the last three decades. Osteosarcoma frequently metastasizes to the lungs and is highly chemotherapy resistant, reducing patient survival with metastatic disease to 20% after 5 years. New therapies targeted to metastasis and drug resistance in osteosarcoma are essential to improving patient outcomes.

Osteosarcoma is a pediatric bone cancer that has no targeted therapy and has had no treatment advances for the last three decades. Osteosarcoma frequently metastasizes to the lungs and is highly chemotherapy resistant, reducing patient survival with metastatic disease to …

Global Trend In Exosome Isolation And Application: An Update Concept In Management Of Diseases, Mohammadhassan Omrani, Hanieh Beyrampour-Basmenj, Rana Jahanban-Esfahlan, Mahnaz Talebi, Mortaza Raeisi, Zeinab Aliyari Serej, Naeimeh Akbar-Gharalari, Sina Khodakarimi, Jiaqian Wu, Abbas Ebrahimi-Kalan

Faculty, Staff and Student Publications

Extracellular vesicles (EVs) secreted by various cells offer great potential for use in the diagnosis and treatment of disease. EVs are heterogeneous membranous vesicles. Exosomes are a subtype of EVs, 40-150 nm spherical vesicles with a lipid layer derived from endosomes. Exosomes, which are involved in signal transduction and maintain homeostasis, are released from almost all cells, tissues, and body fluids. Although several methods exist to isolate and characterize EVs and exosomes, each technique has significant drawbacks and limitations that prevent progress in the field. New approaches in the biology of EVs show great potential for isolating and characterizing EVs, …

Incidental Ring-Hyperenhancing Liver Micronodules At Ct Hepatic Arteriography-Guided Percutaneous Thermal Ablation Of Colorectal Liver Metastases, Jessica Albuquerque, Yuan-Mao Lin, Iwan Paolucci, Caleb S O'Connor, Ching-Wei Tzeng, Jean-Nicolas Vauthey, Kristy K Brock, Bruno C Odisio

Faculty, Staff and Student Publications

CT during hepatic arteriography (CTHA) is a highly sensitive imaging method for detecting colorectal liver metastases (CLMs), which supports its use during percutaneous thermal liver ablation. In contrast to its high sensitivity, its specificity for incidental small CLMs not detected at preablation cross-sectional imaging is believed to be low given the absence of specific imaging signatures and the common presence of pseudolesions. In this retrospective study of 22 patients (mean age, 55 years ± 10.6 [SD]; 63.6% male, 36.4% female) with CLMs undergoing CTHA-guided microwave percutaneous thermal ablation between November 2017 and October 2022, the authors provided a definition of …

The Lymphoma Epidemiology Of Outcomes Cohort Study: Design, Baseline Characteristics, And Early Outcomes, James R Cerhan, Matthew J Maurer, Brian K Link, Andrew L Feldman, Thomas M Habermann, David L Jaye, W Richard Burack, Timothy J Mcdonnell, Francisco Vega, Jennifer R Chapman, Sergei Syrbu, Kiran R Vij, Giorgio Inghirami, John P Leonard, Leon Bernal-Mizrachi, Umar Farooq, Thomas E Witzig, George J Weiner, Yucai Wang, Juan P Alderuccio, Susan L Slager, Melissa C Larson, Shaun M Riska, Brianna J Gysbers, Julianne J Lunde, Tanner W Reicks, Amy A Ayers, Colin B O'Leary, Kathleen J Yost, Hongfang Liu, Grzegorz S Nowakowski, Jia Ruan, Dai Chihara, Jean L Koff, Carla Casulo, Carrie A Thompson, Jonathon B Cohen, Brad S Kahl, Loretta J Nastoupil, Izidore S Lossos, Jonathan W Friedberg, Peter Martin, Christopher R Flowers

Faculty, Staff and Student Publications

To address the current and long-term unmet health needs of the growing population of non-Hodgkin lymphoma (NHL) patients, we established the Lymphoma Epidemiology of Outcomes (LEO) cohort study (NCT02736357; https://leocohort.org/). A total of 7735 newly diagnosed patients aged 18 years and older with NHL were prospectively enrolled from 7/1/2015 to 5/31/2020 at 8 academic centers in the United States. The median age at diagnosis was 62 years (range, 18-99). Participants came from 49 US states and included 538 Black/African-Americans (AA), 822 Hispanics (regardless of race), 3386 women, 716 age <40 >years, and 1513 rural residents. At study baseline, we abstracted clinical, …

Trps1 Expression In Non-Melanocytic Cutaneous Neoplasms: An Immunohistochemical Analysis Of 200 Cases, Yi A Liu, Phyu P Aung, Yunyi Wang, Jing Ning, Priyadharsini Nagarajan, Jonathan L Curry, Carlos A Torres-Cabala, Doina Ivan, Victor G Prieto, Qingqing Ding, Woo Cheal Cho

Faculty, Staff and Student Publications

BACKGROUND: Although trichorhinophalangeal syndrome type 1 (TRPS1) was initially thought to be highly sensitive and specific for carcinomas and mesenchymal tumors of mammary origin, more recent data suggest its expression is not limited to breast neoplasms but also can be seen in other cutaneous neoplasms, such as extramammary Paget disease and squamous cell carcinoma (SCC) in situ.

METHODS: Two-hundred cases of non-melanocytic cutaneous neoplasm, including basal cell carcinomas (BCCs) (n = 41), SCCs (n = 35), Merkel cell carcinomas (MCCs) (n = 25), and adnexal neoplasms (n = 99), were tested for TRPS1 expression using a monoclonal anti- TRPS1 rabbit …

Familial Hypercholesterolemia Variant And Cardiovascular Risk In Individuals With Elevated Cholesterol, Yiyi Zhang, Jacqueline S Dron, Brandon K Bellows, Amit V Khera, Junxiu Liu, Pallavi P Balte, Elizabeth C Oelsner, Sami Samir Amr, Matthew S Lebo, Anna Nagy, Gina M Peloso, Pradeep Natarajan, Jerome I Rotter, Cristen Willer, Eric Boerwinkle, Christie M Ballantyne, Pamela L Lutsey, Myriam Fornage, Donald M Lloyd-Jones, Lifang Hou, Bruce M Psaty, Joshua C Bis, James S Floyd, Ramachandran S Vasan, Nancy L Heard-Costa, April P Carson, Michael E Hall, Stephen S Rich, Xiuqing Guo, Dhruv S Kazi, Sarah D De Ferranti, Andrew E Moran

Faculty, Staff and Student Publications

IMPORTANCE: Familial hypercholesterolemia (FH) is a genetic disorder that often results in severely high low-density lipoprotein cholesterol (LDL-C) and high risk of premature coronary heart disease (CHD). However, the impact of FH variants on CHD risk among individuals with moderately elevated LDL-C is not well quantified.

OBJECTIVE: To assess CHD risk associated with FH variants among individuals with moderately (130-189 mg/dL) and severely (≥190 mg/dL) elevated LDL-C and to quantify excess CHD deaths attributable to FH variants in US adults.

DESIGN, SETTING, AND PARTICIPANTS: A total of 21 426 individuals without preexisting CHD from 6 US cohort studies (Atherosclerosis Risk …

Image-Based Multiplex Immune Profiling Of Cancer Tissues: Translational Implications. A Report Of The International Immuno-Oncology Biomarker Working Group On Breast Cancer., Chowdhury Arif Jahangir, David B. Page, Glenn Broeckx, Claudia A. Gonzalez, Caoimbhe Burke, Clodagh Murphy, Jorge S. Reis-Filho, Amy Ly, Paul Harms, Shahin Sayed

Pathology, East Africa

Recent advances in the field of immuno-oncology have brought transformative changes in the management of cancer patients. The immune profile of tumours has been found to have key value in predicting disease prognosis and treatment response in various cancers. Multiplex immunohistochemistry and immunofluorescence have emerged as potent tools for the simultaneous detection of multiple protein biomarkers in a single tissue section, thereby expanding opportunities for molecular and immune profiling while preserving tissue samples. By establishing the phenotype of individual tumour cells when distributed within a mixed cell population, the identification of clinically relevant biomarkers with high-throughput multiplex immunophenotyping of tumour …

Metabolomic Association And Risk Prediction With Heart Failure In Older Adults, Guning Liu, Ngoc Quynh H Nguyen, Kari E Wong, Sunil K Agarwal, Eric Boerwinkle, Patricia P Chang, Brian L Claggett, Laura R Loehr, Jianzhong Ma, Kunihiro Matsushita, Carlos J Rodriguez, Joseph S Rossi, Stuart D Russell, R Brandon Stacey, Amil M Shah, Bing Yu

Faculty, Staff and Student Publications

Background: Older adults have markedly increased risks of heart failure (HF), specifically HF with preserved ejection fraction (HFpEF). Identifying novel biomarkers can help in understanding HF pathogenesis and improve at-risk population identification. This study aimed to identify metabolites associated with incident HF, HFpEF, and HF with reduced ejection fraction and examine risk prediction in older adults.

Methods: Untargeted metabolomic profiling was performed in Black and White adults from the ARIC study (Atherosclerosis Risk in Communities) visit 5 (n=3719; mean age, 75 years). We applied Cox regressions to identify metabolites associated with incident HF and its subtypes. The metabolite risk score …

Efficacy Of A Primary Care Ehealth Obesity Treatment Pilot Intervention Developed For Vulnerable Pediatric Patients, Joshua S Yudkin, Marlyn A Allicock, Folefac D Atem, Carol A Galeener, Sarah E Messiah, Sarah E Barlow

Faculty, Staff and Student Publications

Background:

Challenges to treat excess weight in primary care settings include time constraints during encounters and barriers to multiple visits for patient families, especially those from vulnerable backgrounds. Dynamo Kids! (DK), a bilingual (English/Spanish) e-health intervention, was created to address these system-level challenges. This pilot study assessed the effect of DK use on parent-reported healthy habits and child BMI.

Methods:

In this 3-month, quasi-experimental cohort design, DK was offered to parents with children aged 6–12 years with BMI ≥85th percentile in three public primary care sites in Dallas, Texas. DK included three educational modules, one tracking tool, recipes, and links …

Chronic Glp1 Therapy Reduces Postprandial Il6 In Obese Humans With Prediabetes, Vala Hamidi, Hongyu Wang, Vi Pham, Karla Bermudez Saint Andre, Heinrich Taegtmeyer, Absalon D Gutierrez

Faculty, Staff and Student Publications

Single-dose glucagon-like peptide 1 (GLP1) therapy increases postprandial plasma IL6 levels in prediabetic, obese humans. GLP1-IL6 interactions underly multiple antidiabetic effects, but these may differ after acute versus chronic therapy. This study examines postprandial effects of GLP1 after chronic therapy. Seven humans (six Black) with prediabetes and obesity completed 6 weeks of exenatide extended release therapy. Then subjects returned for pre- and post-meal measurements of plasma IL6, GLP1, glucagon, and related inflammatory markers. Weight, which was measured before and after therapy, did not change. Plasma IL6 decreased from baseline to postmeal state ( = 0.016), with decreases in free fatty …

Plasma Ferritin Levels, Incident Heart Failure, And Cardiac Structure And Function: The Aric Study, Iman A F Aboelsaad, Brian L Claggett, Victoria Arthur, Pranav Dorbala, Kunihiro Matsushita, Brandon W Lennep, Bing Yu, Pamela L Lutsey, Chiadi E Ndumele, Youssef M K Farag, Amil M Shah, Leo F Buckley

Faculty, Staff and Student Publications

BACKGROUND: Whether iron deficiency contributes to incident heart failure (HF) and cardiac dysfunction has important implications given the prevalence of iron deficiency and the availability of several therapeutics for iron repletion.

OBJECTIVES: The aim of this study was to estimate the associations of plasma ferritin level with incident HF overall, HF phenotypes, and cardiac structure and function measures in older adults.

METHODS: Participants in the ongoing, longitudinal ARIC (Atherosclerosis Risk In Communities) study who were free of prevalent HF and anemia were studied. The associations of plasma ferritin levels with incident HF overall and heart failure with preserved ejection fraction …

Genetic Drivers Of Heterogeneity In Type 2 Diabetes Pathophysiology, Ken Suzuki, Konstantinos Hatzikotoulas, Lorraine Southam, Henry J Taylor, Xianyong Yin, Kim M Lorenz, Ravi Mandla, Alicia Huerta-Chagoya, Giorgio E M Melloni, Stavroula Kanoni, Nigel W Rayner, Ozvan Bocher, Ana Luiza Arruda, Kyuto Sonehara, Shinichi Namba, Simon S K Lee, Michael H Preuss, Lauren E Petty, Philip Schroeder, Brett Vanderwerff, Mart Kals, Fiona Bragg, Kuang Lin, Xiuqing Guo, Weihua Zhang, Jie Yao, Young Jin Kim, Mariaelisa Graff, Fumihiko Takeuchi, Jana Nano, Amel Lamri, Masahiro Nakatochi, Sanghoon Moon, Robert A Scott, James P Cook, Jung-Jin Lee, Ian Pan, Daniel Taliun, Esteban J Parra, Jin-Fang Chai, Lawrence F Bielak, Yasuharu Tabara, Yang Hai, Gudmar Thorleifsson, Niels Grarup, Tamar Sofer, Matthias Wuttke, Chloé Sarnowski, Christian Gieger, Darryl Nousome, Stella Trompet, Soo-Heon Kwak, Jirong Long, Meng Sun, Lin Tong, Wei-Min Chen, Suraj S Nongmaithem, Raymond Noordam, Victor J Y Lim, Claudia H T Tam, Yoonjung Yoonie Joo, Chien-Hsiun Chen, Laura M Raffield, Bram Peter Prins, Aude Nicolas, Lisa R Yanek, Guanjie Chen, Jennifer A Brody, Edmond Kabagambe, Ping An, Anny H Xiang, Hyeok Sun Choi, Brian E Cade, Jingyi Tan, K Alaine Broadaway, Alice Williamson, Zoha Kamali, Jinrui Cui, Manonanthini Thangam, Linda S Adair, Adebowale Adeyemo, Carlos A Aguilar-Salinas, Tarunveer S Ahluwalia, Sonia S Anand, Alain Bertoni, Jette Bork-Jensen, Ivan Brandslund, Thomas A Buchanan, Charles F Burant, Adam S Butterworth, Mickaël Canouil, Juliana C N Chan, Li-Ching Chang, Miao-Li Chee, Ji Chen, Shyh-Huei Chen, Yuan-Tsong Chen, Zhengming Chen, Lee-Ming Chuang, Mary Cushman, John Danesh, Swapan K Das, H Janaka De Silva, George Dedoussis, Latchezar Dimitrov, Ayo P Doumatey, Shufa Du, Qing Duan, Kai-Uwe Eckardt, Leslie S Emery, Daniel S Evans, Michele K Evans, Krista Fischer, James S Floyd, Ian Ford, Oscar H Franco, Timothy M Frayling, Barry I Freedman, Pauline Genter, Hertzel C Gerstein, Vilmantas Giedraitis, Clicerio González-Villalpando, Maria Elena González-Villalpando, Penny Gordon-Larsen, Myron Gross, Lindsay A Guare, Sophie Hackinger, Liisa Hakaste, Sohee Han, Andrew T Hattersley, Christian Herder, Momoko Horikoshi, Annie-Green Howard, Willa Hsueh, Mengna Huang, Wei Huang, Yi-Jen Hung, Mi Yeong Hwang, Chii-Min Hwu, Sahoko Ichihara, Mohammad Arfan Ikram, Martin Ingelsson, Md Tariqul Islam, Masato Isono, Hye-Mi Jang, Farzana Jasmine, Guozhi Jiang, Jost B Jonas, Torben Jørgensen, Frederick K Kamanu, Fouad R Kandeel, Anuradhani Kasturiratne, Tomohiro Katsuya, Varinderpal Kaur, Takahisa Kawaguchi, Jacob M Keaton, Abel N Kho, Chiea-Chuen Khor, Muhammad G Kibriya, Duk-Hwan Kim, Florian Kronenberg, Johanna Kuusisto, Kristi Läll, Leslie A Lange, Kyung Min Lee, Myung-Shik Lee, Nanette R Lee, Aaron Leong, Liming Li, Yun Li, Ruifang Li-Gao, Symen Ligthart, Cecilia M Lindgren, Allan Linneberg, Ching-Ti Liu, Jianjun Liu, Adam E Locke, Tin Louie, Jian'an Luan, Andrea O Luk, Xi Luo, Jun Lv, Julie A Lynch, Valeriya Lyssenko, Shiro Maeda, Vasiliki Mamakou, Sohail Rafik Mansuri, Koichi Matsuda, Thomas Meitinger, Olle Melander, Andres Metspalu, Huan Mo, Andrew D Morris, Filipe A Moura, Jerry L Nadler, Michael A Nalls, Uma Nayak, Ioanna Ntalla, Yukinori Okada, Lorena Orozco, Sanjay R Patel, Snehal Patil, Pei Pei, Mark A Pereira, Annette Peters, Fraser J Pirie, Hannah G Polikowsky, Bianca Porneala, Gauri Prasad, Laura J Rasmussen-Torvik, Alexander P Reiner, Michael Roden, Rebecca Rohde, Katheryn Roll, Charumathi Sabanayagam, Kevin Sandow, Alagu Sankareswaran, Naveed Sattar, Sebastian Schönherr, Mohammad Shahriar, Botong Shen, Jinxiu Shi, Dong Mun Shin, Nobuhiro Shojima, Jennifer A Smith, Wing Yee So, Alena Stančáková, Valgerdur Steinthorsdottir, Adrienne M Stilp, Konstantin Strauch, Kent D Taylor, Barbara Thorand, Unnur Thorsteinsdottir, Brian Tomlinson, Tam C Tran, Fuu-Jen Tsai, Jaakko Tuomilehto, Teresa Tusie-Luna, Miriam S Udler, Adan Valladares-Salgado, Rob M Van Dam, Jan B Van Klinken, Rohit Varma, Niels Wacher-Rodarte, Eleanor Wheeler, Ananda R Wickremasinghe, Ko Willems Van Dijk, Daniel R Witte, Chittaranjan S Yajnik, Ken Yamamoto, Kenichi Yamamoto, Kyungheon Yoon, Canqing Yu, Jian-Min Yuan, Salim Yusuf, Matthew Zawistowski, Liang Zhang, Wei Zheng, Leslie J Raffel, Michiya Igase, Eli Ipp, Susan Redline, Yoon Shin Cho, Lars Lind, Michael A Province, Myriam Fornage, Craig L Hanis, Erik Ingelsson, Alan B Zonderman, Bruce M Psaty, Ya-Xing Wang, Charles N Rotimi, Diane M Becker, Fumihiko Matsuda, Yongmei Liu, Mitsuhiro Yokota, Sharon L R Kardia, Patricia A Peyser, James S Pankow, James C Engert, Amélie Bonnefond, Philippe Froguel, James G Wilson, Wayne H H Sheu, Jer-Yuarn Wu, M Geoffrey Hayes, Ronald C W Ma, Tien-Yin Wong, Dennis O Mook-Kanamori, Tiinamaija Tuomi, Giriraj R Chandak, Francis S Collins, Dwaipayan Bharadwaj, Guillaume Paré, Michèle M Sale, Habibul Ahsan, Ayesha A Motala, Xiao-Ou Shu, Kyong-Soo Park, J Wouter Jukema, Miguel Cruz, Yii-Der Ida Chen, Stephen S Rich, Roberta Mckean-Cowdin, Harald Grallert, Ching-Yu Cheng, Mohsen Ghanbari, E-Shyong Tai, Josee Dupuis, Norihiro Kato, Markku Laakso, Anna Köttgen, Woon-Puay Koh, Donald W Bowden, Colin N A Palmer, Jaspal S Kooner, Charles Kooperberg, Simin Liu, Kari E North, Danish Saleheen, Torben Hansen, Oluf Pedersen, Nicholas J Wareham, Juyoung Lee, Bong-Jo Kim, Iona Y Millwood, Robin G Walters, Kari Stefansson, Emma Ahlqvist, Mark O Goodarzi, Karen L Mohlke, Claudia Langenberg, Christopher A Haiman, Ruth J F Loos, Jose C Florez, Daniel J Rader, Marylyn D Ritchie, Sebastian Zöllner, Reedik Mägi, Nicholas A Marston, Christian T Ruff, David A Van Heel, Sarah Finer, Joshua C Denny, Toshimasa Yamauchi, Takashi Kadowaki, John C Chambers, Maggie C Y Ng, Xueling Sim, Jennifer E Below, Philip S Tsao, Kyong-Mi Chang, Mark I Mccarthy, James B Meigs, Anubha Mahajan, Cassandra N Spracklen, Josep M Mercader, Michael Boehnke, Jerome I Rotter, Marijana Vujkovic, Benjamin F Voight, Andrew P Morris, Eleftheria Zeggini

Faculty, Staff and Student Publications

Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes1,2 and molecular mechanisms that are often specific to cell type3,4. Here, to characterize the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases of T2D. We identify 1,289 independent association signals at genome-wide significance (P < 5 × 10-8) that map to 611 loci, of which 145 loci are, to our knowledge, previously unreported. We define eight non-overlapping clusters of T2D signals that are characterized by distinct profiles of cardiometabolic trait associations. These clusters are differentially enriched for cell-type-specific regions of open chromatin, including pancreatic islets, adipocytes, endothelial cells and enteroendocrine cells. We build cluster-specific partitioned polygenic scores5 in a further 279,552 individuals of diverse ancestry, including 30,288 cases of T2D, and test their association with T2D-related vascular outcomes. Cluster-specific partitioned polygenic scores are associated with coronary artery disease, peripheral artery disease and end-stage diabetic nephropathy across ancestry groups, highlighting the importance of obesity-related processes in the development of vascular outcomes. Our findings show the value of integrating multi-ancestry genome-wide association study data with single-cell epigenomics to disentangle the aetiological heterogeneity that drives the development and progression of T2D. This might offer a route to optimize global access to genetically informed diabetes care.

Tongue Electrical Impedance Myography Correlates With Functional, Neurophysiologic, And Clinical Outcome Measures In Long-Term Oropharyngeal Cancer Survivors With And Without Hypoglossal Neuropathy: An Exploratory Study, Nathan J Hansen, Karin Woodman, Sheila Buoy, Shitong Mao, Carly E A Barbon, Stephen Y Lai, C David Fuller, Katherine A Hutcheson, Benjamin Sanchez

Faculty, Staff and Student Publications

Background: This pilot study analyzed correlations between tongue electrical impedance myography (EIM), standard tongue electromyography (EMG), and tongue functional measures in N = 4 long-term oropharyngeal cancer (OPC) survivors.

Methods: Patients were screened for a supportive care trial (NCT04151082). Hypoglossal nerve function was evaluated with genioglossus needle EMG, functional measures with the Iowa oral performance instrument (IOPI), and multi-frequency tissue composition with tongue EIM.

Results: Tongue EIM conductivity was higher for patients with EMG-confirmed cranial nerve XII neuropathy than those without (p = 0.005) and in patients with mild versus normal EMG reinnervation ratings (16 kHz EIM: p …

Assessment Of Patient Perceptions Of Artificial Intelligence Use In Dermatology: A Cross-Sectional Survey, Alexander Wu, Madeline Ngo, Cristina Thomas

Faculty, Staff and Student Publications

The use of artificial intelligence (AI) in medicine has grown in recent decades, with deep neural networks demonstrating accuracies comparable to dermatologists when classifying melanoma, keratinocyte carcinomas, and other common skin conditions. 1 , 2 , 3 With the future possibility that AI will be integrated into dermatology practice, it is important to understand how patients view these possible changes. Although prior studies have shown that patients are open to the use of AI in the diagnosis of skin cancer, little is known about patients' trust and perception of AI accuracy in general dermatology. 4 , 5 This survey study …

Omics-Based Profiles And Biomarkers Of Respiratory Infections: Are We There Yet?, Jezreel Pantaleon Garcia, Scott E Evans

Faculty, Staff and Student Publications

Descriptive omics-based clinical research provides valuable early steps in understanding host immune responses to respiratory pathogens in our global efforts to mitigate the impacts of severe respiratory infections with rapidly evolving technologies https://bit.ly/4bjJsvL

A Case Of Diffuse Thyroid Lipomatosis With Amyloid Deposits Presenting With Thyrotoxicosis, Adrian M Gonzalez-Gil, Marco A Ruiz-Santillan, Bahar K Force, Ruchi Gaba

Faculty, Staff and Students Publications

Diffuse thyroid lipomatosis (DTL) is a rare entity of unknown etiology that can be associated with amyloidosis and rarely, thyrotoxicosis. Here, we present a case of DTL with amyloid deposits and concurrent thyrotoxicosis. A 64-year-old South-Asian woman with a several-year history of an enlarging goiter, unintentional weight loss, and work-up 10 months prior suggestive of thyroiditis presented with a viral syndrome in setting of several weeks of progressive fatigue. Her examination was notable for resting sinus tachycardia and massive painless goiter. Initial work-up revealed nephrotic range proteinuria with hypoalbuminemia, which progressed to end-stage-renal disease, elevated inflammatory markers, and elevated free …

Reliability And Validity Of The Promis-29 Health Profile In Ankylosing Spondylitis Patients: A Cross-Sectional Study, Mark C Hwang, Cynthia Bell, Yvette Farran, Alexis Ogdie, Charles Green, John Reveille

Faculty, Staff and Student Publications

The Patient-Reported Outcomes Measurement Information System 29-Item Health Profile (PROMIS-29) is a generic measure of health-related quality of life that is not well-studied in Ankylosing Spondylitis (AS) patients. Our objective was to investigate the reliability and validity of the PROMIS-29 in AS. About 169 consecutive AS patients were enrolled from 2017 to 2022 with 167/169 patients fully completing the PROMIS-29 in this cross-sectional study. Test-retest reliability and internal consistency was assessed using intraclass correlation coefficients (ICC) and Cronbach alpha, respectively. We studied structural validity with confirmatory factor analysis (CFA) of our hypothesized and general population models. We evaluated model fit …