Digital Commons Network^™

A Prdm16-Driven Signal Regulates Body Composition In Testosterone-Treated Hypogonadal Men, Siresha Bathina, Georgia Colleluori, Dennis T Villareal, Lina Aguirre, Rui Chen, Reina Armamento-Villareal

Faculty, Staff and Students Publications

BACKGROUND: Testosterone (T) therapy increases lean mass and reduces total body and truncal fat mass in hypogonadal men. However, the underlying molecular mechanisms for the reciprocal changes in fat and lean mass in humans are not entirely clear.

METHODS: Secondary analysis of specimens obtained from a single-arm, open-label clinical trial on pharmacogenetics of response to T therapy in men with late-onset hypogonadism, conducted between 2011 and 2016 involving 105 men (40-74 years old), who were given intramuscular T cypionate 200 mg every 2 weeks for 18 months. Subcutaneous fat (SCF), peripheral blood mononuclear cells (PBMC) and serum were obtained from …

Artificial Intelligence-Powered Discovery Of Small Molecules Inhibiting Ctla-4 In Cancer, Navid Sobhani, Dana Rae Tardiel-Cyril, Dafei Chai, Daniele Generali, Jian-Rong Li, Jonathan Vazquez-Perez, Jing Ming Lim, Rachel Morris, Zaniqua N Bullock, Aram Davtyan, Chao Cheng, William K Decker, Yong Li

Faculty, Staff and Students Publications

BACKGROUND/OBJECTIVES: Checkpoint inhibitors, which generate durable responses in many cancer patients, have revolutionized cancer immunotherapy. However, their therapeutic efficacy is limited, and immune-related adverse events are severe, especially for monoclonal antibody treatment directed against cytotoxic T-lymphocyte-associated protein 4 (CTLA-4), which plays a pivotal role in preventing autoimmunity and fostering anticancer immunity by interacting with the B7 proteins CD80 and CD86. Small molecules impairing the CTLA-4/CD80 interaction have been developed; however, they directly target CD80, not CTLA-4.

SUBJECTS/METHODS: In this study, we performed artificial intelligence (AI)-powered virtual screening of approximately ten million compounds to identify those targeting CTLA-4. We validated the …

Dna Mismatch Repair Defect And Intratumor Heterogeneous Deficiency Differently Impact Immune Responses In Diffuse Large B-Cell Lymphoma, Zijun Y Xu-Monette, Cancan Luo, Li Yu, Yong Li, Govind Bhagat, Alexandar Tzankov, Carlo Visco, Xiangshan Fan, Karen Dybkaer, Ali Sakhdari, Nicholas T Wang, Alyssa F Yuan, April Chiu, Wayne Tam, Youli Zu, Eric D Hsi, Anamarija M Perry, Wenting Song, Dennis O'Malley, Qingyan Au, Harry Nunns, Heounjeong Go, Michael B Møller, Benjamin M Parsons, Santiago Montes-Moreno, Maurilio Ponzoni, Andrés J M Ferreri, Aliyah R Sohani, Jeremy S Abramson, Bing Xu, Ken H Young

Faculty, Staff and Students Publications

Deficient (d) DNA mismatch repair (MMR) is a biomarker predictive of better response to PD-1 blockade immunotherapy in solid tumors. dMMR can be caused by mutations in MMR genes or by protein inactivation, which can be detected by sequencing and immunohistochemistry, respectively. To investigate the role of dMMR in diffuse large B-cell lymphoma (DLBCL), MMR gene mutations and expression of MSH6, MSH2, MLH1, and PMS2 proteins were evaluated by targeted next-generation sequencing and immunohistochemistry in a large cohort of DLBCL patients treated with standard chemoimmunotherapy, and correlated with the tumor immune microenvironment characteristics quantified by fluorescent multiplex immunohistochemistry and gene-expression …

High Prevalence Of A-Β+ Ketosis-Prone Diabetes In Children With Type 2 Diabetes And Diabetic Ketoacidosis At Diagnosis: Evidence From The Rare And Atypical Diabetes Network (Radiant), Elizabeth Kubota-Mishra, Xiaofan Huang, Charles G Minard, Marcela Astudillo, Ahmad Refaey, Graciela Montes, Stephanie Sisley, Nalini Ram, William E Winter, Rochelle N Naylor, Ashok Balasubramanyam, Maria J Redondo, Mustafa Tosur, Radiant Study Group

Faculty, Staff and Students Publications

BACKGROUND:A−β+ ketosis-prone diabetes (KPD) in adults is characterized by presentation with diabetic ketoacidosis (DKA), negative islet autoantibodies, and preserved β-cell function in persons with a phenotype of obesity-associated type 2 diabetes (T2D). The prevalence of KPD has not been evaluated in children. We investigated children with DKA at “T2D” onset and determined the prevalence and characteristics of pediatric A−β+ KPD within this cohort.

METHODS: We reviewed the records of 716 children with T2D at a large academic hospital and compared clinical characteristics of those with and without DKA at onset. In the …

Development, Implementation, And Evaluation Of Three Outreach Events To Improve Covid-19 Vaccine Uptake Among Racial And Ethnic Minority Communities In Houston, Texas, 2022, Carmin Munoz-Lavanderos, Abiodun Oluyomi, Omar Rosales, Norvin Hernandez, Nana Mensah-Bonsu, Hoda Badr

Faculty, Staff and Students Publications

OBJECTIVES: Lack of access to timely, accurate, and linguistically appropriate COVID-19 information has complicated the dissemination of evidence-based information and contributed to vaccine hesitancy among racial and ethnic minority groups in the United States. We developed community events that provided outreach, education, and access to COVID-19 vaccination to overcome vaccine hesitancy in these communities.

METHODS: Using spatial analysis techniques, we identified 3 communities with low vaccine uptake in Houston, Texas, in fall 2021; engaged 20 stakeholders from these communities via 4 focus groups to understand barriers to vaccination; and developed and implemented 3 COVID-19 vaccine education and outreach events tailored …

The Next-Generation Dna Vaccine Platforms And Delivery Systems: Advances, Challenges And Prospects, Bowen Lu, Jing Ming Lim, Boyue Yu, Siyuan Song, Praveen Neeli, Navid Sobhani, Pavithra K, Srinivasa Reddy Bonam, Rajendra Kurapati, Junnian Zheng, Dafei Chai

Faculty, Staff and Students Publications

Vaccines have proven effective in the treatment and prevention of numerous diseases. However, traditional attenuated and inactivated vaccines suffer from certain drawbacks such as complex preparation, limited efficacy, potential risks and others. These limitations restrict their widespread use, especially in the face of an increasingly diverse range of diseases. With the ongoing advancements in genetic engineering vaccines, DNA vaccines have emerged as a highly promising approach in the treatment of both genetic diseases and acquired diseases. While several DNA vaccines have demonstrated substantial success in animal models of diseases, certain challenges need to be addressed before application in human subjects. …

Qualitative Study Of Hiv-Related Stigma In The Dental Care Setting, Sania A. Pullen, Dr. Dina T. Garcia

UROP Posters

Objectives: People living with HIV (PLWH) are susceptible to developing a variety of oral conditions that if left untreated can lead to sore gums, painful chewing, and tooth loss as well as compromise HIV management and viral suppression. Despite the increased risk of developing oral conditions, it is estimated that up to 58% of PLH do not receive regular dental care. This study aimed to examine HIV-related stigma and discrimination in the dental care setting.

Methods: Adults living with HIV who receive care through the Ryan White HIV/AIDS Program at the VCU Infectious Disease (ID) clinic were recruited to participate. …

Thrombectomy In Stroke Patients With Low Alberta Stroke Program Early Computed Tomography Score: Is Modified Thrombolysis In Cerebral Infarction (Mtici) 2c/3 Superior To Mtici 2b?, Sameh Samir Elawady, Brian Fabian Saway, Hidetoshi Matsukawa, Kazutaka Uchida, Steven Lin, Ilko Maier, Pascal Jabbour, Joon-Tae Kim, Stacey Quintero Wolfe, Ansaar Rai, Robert M Starke, Marios-Nikos Psychogios, Edgar A Samaniego, Adam Arthur, Shinichi Yoshimura, Hugo Cuellar, Jonathan A Grossberg, Ali Alawieh, Daniele G Romano, Omar Tanweer, Justin Mascitelli, Isabel Fragata, Adam Polifka, Joshua Osbun, Roberto Crosa, Charles Matouk, Min S Park, Michael R Levitt, Waleed Brinjikji, Mark Moss, Travis Dumont, Richard Williamson, Pedro Navia, Peter Kan, Reade De Leacy, Shakeel Chowdhry, Mohamad Ezzeldin, Alejandro M Spiotta, Sami Al Kasab

Faculty, Staff and Students Publications

BACKGROUND AND PURPOSE: Outcomes following mechanical thrombectomy (MT) are strongly correlated with successful recanalization, traditionally defined as modified Thrombolysis in Cerebral Infarction (mTICI) ≥2b. This retrospective cohort study aimed to compare the outcomes of patients with low Alberta Stroke Program Early Computed Tomography Score (ASPECTS; 2-5) who achieved mTICI 2b versus those who achieved mTICI 2c/3 after MT.

METHODS: This study utilized data from the Stroke Thrombectomy and Aneurysm Registry (STAR), which combined databases from 32 thrombectomy-capable stroke centers between 2013 and 2023. The study included only patients with low ASPECTS who achieved mTICI 2b, 2c, or 3 after MT …

Multimodal Prediction Of Obsessive-Compulsive Disorder And Comorbid Depression Severity And Energy Delivered By Deep Brain Electrodes, Saurabh Hinduja, Ali Darzi, Itir Onal Ertugrul, Nicole Provenza, Ron Gadot, Eric A Storch, Sameer A Sheth, Wayne K Goodman, Jeffrey F Cohn

Faculty, Staff and Students Publications

To develop reliable, valid, and efficient measures of obsessive-compulsive disorder (OCD) severity, comorbid depression severity, and total electrical energy delivered (TEED) by deep brain stimulation (DBS), we trained and compared random forests regression models in a clinical trial of participants receiving DBS for refractory OCD. Six participants were recorded during open-ended interviews at pre- and post-surgery baselines and then at 3-month intervals following DBS activation. Ground-truth severity was assessed by clinical interview and self-report. Visual and auditory modalities included facial action units, head and facial landmarks, speech behavior and content, and voice acoustics. Mixed-effects random forest regression with Shapley feature …

Milner Library Annual Report, 2024, Milner Library

Milner Library Publications

Annual report for Milner Library, Illinois State University.

Remember The Human: A Systematic Review Of Ethical Considerations In Reddit Research, Casey Fiesler, Michael Zimmer, Nicholas Proferes, Sarah A. Gilbert, Naiyan Jones

Computer Science Faculty Research and Publications

Reddit is one of the world's most prominent social media platforms, and also a valuable source of data for internet researchers. However, working with this kind of data also presents novel ethical complications for researchers, including issues around privacy, vulnerable populations, and unintended consequences. This paper describes an analysis of 134 papers that rely on Reddit data while also including some discussion of ethical implications and/or considerations by the researchers. Our analysis of these papers reveals common ethical issues and ethically motivated methodological decisions, as described by the researchers themselves, while also exposing some gaps for further ethical contemplation for …

Gsk-3Β As A Potential Coordinator Of Anabolic And Catabolic Pathways In Hepatitis C Virus Insulin Resistance, Gokul C Das, F Blaine Hollinger

Faculty, Staff and Students Publications

INTRODUCTION: Chronic hepatitis C infection can result in insulin resistance (IR). We have previously shown that it occurs through the interaction of pathways for glucose homeostasis, insulin signaling, and autophagy. But it is not known how soon the pathways are activated and how IR is related to the signals generated by catabolic and anabolic conditions occurring in infected cells. We have extended our studies to a cell culture system mimicking acute infection and to downstream pathways involving energy-sensor AMPK and nutrient-sensor mTOR that are active in catabolic and anabolic processes within the infected cells.

METHODS: Huh7 liver cells in culture …

Delays In Hepatitis A Vaccination In People With Hiv In Houston, Texas Between 2010 And 2018, Emily T Ciocca, Kristen A Staggers, Jennifer Carey, Antone R Opekun, F Blaine Hollinger, Wendy A Keitel, Robert L Atmar, Hana M El Sahly, Jennifer A Whitaker

Faculty, Staff and Students Publications

BACKGROUND: Studies have demonstrated low hepatitis A virus (HAV) vaccination rates among persons with HIV (PWH).

METHODS: We conducted a retrospective study of persons entering HIV care at two clinics in Houston, Texas between 2010 and 2018. We defined those eligible for HAV vaccination as those who had no history of HAV vaccination and had a negative anti-HAV IgG at entry to care. Kaplan-Meier curves summarized time to receipt of HAV vaccines. The proportions of patients who received 1 and 2 HAV vaccines at 6, 12, and 24 months were estimated. Cox proportional hazards regression evaluated associations between patient characteristics …

Pre-Left Ventricular Assist Device Endoscopic Evaluation Does Not Reduce The Risk Of Later Gastrointestinal Bleeding: A Multicenter Study, Jiahao Peng, Samanthika Devalaraju, Mohamed Azab, William T Cates, Molly Stone, Jonathan Reichstein, Sneha Shaha, Subhasis Chatterjee, Andrew B Civitello, Mourad H Senussi, B Joseph Elmunzer, Michael Volk, Wasseem Skef

Faculty, Staff and Students Publications

BACKGROUND: Gastrointestinal bleeding (GIB) is a common complication after placement of a left ventricular assist device (LVAD). Some institutions attempt to mitigate post-LVAD GIB using preoperative endoscopy. Our study evaluated whether preoperative endoscopy was associated with a lower risk of post-LVAD GIB.

METHODS: This was a multicenter cohort study of patients who underwent LVAD insertion from 2010-2019 at 3 academic sites. A total of 398 study participants were categorized based on whether they underwent preoperative endoscopy or not. The follow-up period was 1 year and the primary outcome was GIB. Secondary outcomes were severe bleeding and intraprocedural complications.

RESULTS: A …

Cardiac Tamponade Secondary To Esophagopericardial Fistula, Caitlin T Perez-Stable, Lauren T Callaghan, Christopher K Wong, Jorge M Escobar, Mahboob Alam

Faculty, Staff and Students Publications

Esophagopericardial fistulas are an extremely rare structural defect that may arise from malignant or iatrogenic etiologies. This article reports the case of a patient with cardiac tamponade secondary to hydropneumopericardium from esophagopericardial fistula. Given the high morbidity and mortality of this condition, this article describes challenges in diagnosis and clinical decision-making to improve early identification and interdisciplinary management.

Best Practices For Point Of Care Ultrasound: An Interdisciplinary Expert Consensus, Brandon Oto, Robert Baeten, Leon Chen, Puja Dalal, Ria Dancel, Steven Fox, Carl William Lange Iv, Cameron Baston, Paul Bornemann, Siddharth Dugar, Andrew Goldsmith, Meghan Kelly Herbst, James N Kirkpatrick, Abhilash Koratala, Michael J Lanspa, Viveta Lobo, Jason T Nomura, Aliaksei Pustavoitau, Mourad H Senussi, Vincent L Sorrell, Frances Mae West, Aarti Sarwal

Faculty, Staff and Students Publications

Despite the growing use of point of care ultrasound (POCUS) in contemporary medical practice and the existence of clinical guidelines addressing its specific applications, there remains a lack of standardization and agreement on optimal practices for several areas of POCUS use. The Society of Point of Care Ultrasound (SPOCUS) formed a working group in 2022 to establish a set of recommended best practices for POCUS, applicable to clinicians regardless of their training, specialty, resource setting, or scope of practice. Using a three-round modified Delphi process, a multi-disciplinary panel of 22 POCUS experts based in the United States reached consensus on …

Reproductive Factors And Their Association With Physical And Comprehensive Frailty In Middle-Aged And Older Women: A Large-Scale Population-Based Study, Wenting Hao, Qi Wang, Ruihong Yu, Shiva Raj Mishra, Salim S Virani, Nipun Shrestha, Chunying Fu, Dongshan Zhu

Faculty, Staff and Students Publications

Study question: Are women's reproductive factors associated with physical frailty and comprehensive frailty in middle-age and later life?

Summary answer: Early menarche at < 13 years, age at menopause < 45 years, surgical menopause, experiencing miscarriage and a shorter reproductive period of < 35 years were associated with increased odds of frailty, while having two or three children was related to decreased likelihood of frailty.

What is known already: Evidence has shown that women are frailer than men in all age groups and across different populations, although women have longer lifespans. Female-specific reproductive factors may be related to risk of frailty in women.

Study design size duration: A population-based cross-sectional study involved 189 898 women from the UK Biobank.

Participants/materials setting methods: Frailty phenotype and frailty index were used to assess physical frailty and comprehensive frailty (assessed using 38 health indicators for …

Steroid Receptor Coactivators In Treg And Th17 Cell Biology And Function, Yosi Gilad, Ortal Shimon, Sang Jun Han, David M Lonard, Bert W O'Malley

Faculty, Staff and Students Publications

Steroid receptor coactivators (SRCs) are master regulators of transcription that play key roles in human physiology and pathology. SRCs are particularly important for the regulation of the immune system with major roles in lymphocyte fate determination and function, macrophage activity, regulation of nuclear factor κB (NF-κB) transcriptional activity and other immune system biology. The three members of the p160 SRC family comprise a network of immune-regulatory proteins that can function independently or act in synergy with each other, and compensate for - or moderate - the activity of other SRCs. Recent evidence indicates that the SRCs are key participants in …

A Comprehensive Meta-Analysis Of Tissue Resident Memory T Cells And Their Roles In Shaping Immune Microenvironment And Patient Prognosis In Non-Small Cell Lung Cancer, Aidan Shen, Aliesha Garrett, Cheng-Chi Chao, Dongliang Liu, Chao Cheng, Zhaohui Wang, Chen Qian, Yangzhi Zhu, Junhua Mai, Chongming Jiang

Faculty, Staff and Students Publications

Tissue-resident memory T cells (TRM) are a specialized subset of long-lived memory T cells that reside in peripheral tissues. However, the impact of TRM-related immunosurveillance on the tumor-immune microenvironment (TIME) and tumor progression across various non-small-cell lung cancer (NSCLC) patient populations is yet to be elucidated. Our comprehensive analysis of multiple independent single-cell and bulk RNA-seq datasets of patient NSCLC samples generated reliable, unique TRM signatures, through which we inferred the abundance of TRM in NSCLC. We discovered that TRM abundance is consistently positively correlated with CD4+ T helper 1 cells, M1 macrophages, and resting dendritic cells in the TIME. …

Advances In The Clinical Application Of High-Throughput Proteomics, Miao Cui, Fei Deng, Mary L Disis, Chao Cheng, Lanjing Zhang

Faculty, Staff and Students Publications

High-throughput proteomics has become an exciting field and a potential frontier of modern medicine since the early 2000s. While significant progress has been made in the technical aspects of the field, translating proteomics to clinical applications has been challenging. This review summarizes recent advances in clinical applications of high-throughput proteomics and discusses the associated challenges, advantages, and future directions. We focus on research progress and clinical applications of high-throughput proteomics in breast cancer, bladder cancer, laryngeal squamous cell carcinoma, gastric cancer, colorectal cancer, and coronavirus disease 2019. The future application of high-throughput proteomics will face challenges such as varying protein …

Newborn Screening Analytes And Structural Birth Defects Among 27,000 Newborns, Philip J Lupo, Natalie P Archer, Rachel D Harris, Lisa K Marengo, Jeremy M Schraw, Adrienne T Hoyt, Susan Tanksley, Rachel Lee, Margaret Drummond-Borg, Debra Freedenberg, Priya B Shetty, A J Agopian, Charles Shumate, Sonja A Rasmussen, Peter H Langlois, Mark A Canfield

Center for Medical Ethics and Health Policy Staff Publications

Background: Emerging evidence suggests newborn screening analytes may yield insights into the etiologies of birth defects, yet no effort has evaluated associations between a range of newborn screening analytes and birth defects.

Methods: This population-based study pooled statewide data on birth defects, birth certificates, and newborn screening analytes from Texas occurring between January 1, 2007 and December 31, 2009. Associations between a panel of thirty-six newborn screening analytes, collected by the statewide Texas Newborn Screening Program, and the presence of a birth defect, defined as at least one of 39 birth defects diagnoses recorded by the Texas Birth Defects Registry, …

Select Gut Microbiota Impede Rotavirus Vaccine Efficacy, Vu L Ngo, Yanling Wang, Yadong Wang, Zhenda Shi, Robert Britton, Jun Zou, Sasirekha Ramani, Baoming Jiang, Andrew T Gewirtz

Faculty, Staff and Students Publications

BACKGROUND & AIMS: The protection provided by rotavirus (RV) vaccines is highly heterogeneous among individuals. We hypothesized that microbiota composition might influence RV vaccine efficacy.

METHODS: First, we examined the potential of segmented filamentous bacteria (SFB) colonization to influence RV vaccine efficacy in mice. Next, we probed the influence of human microbiomes on RV vaccination via administering mice fecal microbial transplants (FMTs) from children with robust or minimal RV vaccine responsiveness. Post-FMT, mice were subjected to RV vaccination followed by RV challenge.

RESULTS: SFB colonization induced a phenotype that was reminiscent of RV vaccine failure (ie, failure to generate RV …

Mfgm-Enriched Whey Displays Antiviral Activity Against Common Pediatric Viruses, Evelien Kramer, Ketki Patil, Vassilis Triantis, Jan A H Bastiaans, Michela Mazzon, Sasirekha Ramani, Tim T Lambers

Faculty, Staff and Students Publications

BACKGROUND: Among the most common mucosal viral infections in infants are rotavirus, one of the main causes of severe gastroenteritis in infants and children up to 5 years, and respiratory syncytial virus (RSV), one of the leading causes of lower respiratory tract infections. Both human milk and bovine milk derived factors may provide protection against mucosal viral infections. More recently, a similar activity of milk derived proteins was suggested for SARS-CoV-2. The goal of the current study was to test antiviral activity of the bovine milkfat globule membrane (MFGM) against rotavirus, RSV and SARS-CoV-2 and to further characterize MFGM-enriched whey …

Lack Of Knowledge Of Antibiotic Risks Contributes To Primary Care Patients' Expectations Of Antibiotics For Common Symptoms, Lindsey A Laytner, Barbara W Trautner, Susan Nash, Roger Zoorob, Jennifer O Okoh, Eva Amenta, Kiara Olmeda, Juanita Salinas, Michael K Paasche-Orlow, Larissa Grigoryan

Faculty, Staff and Students Publications

Patient expectations of receiving antibiotics for common symptoms can trigger unnecessary use. We conducted a survey (n = 564) between January 2020 to June 2021 in public and private primary care clinics in Texas to study the prevalence and predictors of patients' antibiotic expectations for common symptoms/illnesses. We surveyed Black patients (33%) and Hispanic/Latine patients (47%), and over 93% expected to receive an antibiotic for at least 1 of the 5 pre-defined symptoms/illnesses. Public clinic patients were nearly twice as likely to expect antibiotics for sore throat, diarrhea, and cold/flu than private clinic patients. Lack of knowledge of potential risks …

Stroke Survivors’ Telemedicine Experiences During The Covid-19 Pandemic: A Phenomenological Investigation, Barbara Kimmel, Annette Walder, Anette Ovalle, Chethan P Venkatasubba Rao, Sean I Savitz, Mark Goldberg, Steven Warach, Salvador Cruz-Flores, Daiwai M Olson, Jane A Anderson

Faculty, Staff and Student Publications

PURPOSE: This study aimed to describe stroke survivors' experiences receiving telemedicine visits at the Lone Star Stroke Consortium during the COVID-19 pandemic.

MATERIALS AND METHODS: A qualitative descriptive phenomenological design was applied to gather patients' telemedicine experiences through in-depth interviews, using a study guide. Audio-recorded interviews were conducted via ZOOM and transcribed verbatim. Two independent reviewers used the Giorgi descriptive method to analyze the data and search for the essence of stroke survivors' follow-up telemedicine experiences during the COVID-19 pandemic.

RESULTS: Fifteen underserved patients were recruited: mean age, 51.8 (15.7), and 9 (60%) females. Three themes emerged: (1) vivid memory …

A Woman With Bilateral Pheochromocytoma And Tuberous Sclerosis Complex, Maleeha Zahid, Shalini Koshy, Jawairia Shakil, Helmi S Khadra, Luan D Truong, Archana R Sadhu

Faculty, Staff and Students Publications

BACKGROUND/OBJECTIVE: Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors. Here, we report an unusual case of synchronous PPGL in an asymptomatic patient with tuberous sclerosis complex (TSC).

CASE REPORT: A 49-year-old woman with a history of TSC and end-stage renal disease was referred for evaluation of bilateral adrenal and retroperitoneal masses. She denied chest pain, palpitations, headaches, or previous hypertensive crisis. The laboratory test results showed a plasma normetanephrine level of 20.20 nmol/L (normal range, 0.00-0.89 nmol/L) and plasma chromogranin A level Chromogranin A (CgA) levels of 1518 ng/mL (normal range, 0-103 ng/mL). The plasma metanephrine level was normal. After …

Siglec15, Negatively Correlated With Pd-L1 In Hcc, Could Induce Cd8+ T Cell Apoptosis To Promote Immune Evasion, Zheng Chen, Mincheng Yu, Bo Zhang, Lei Jin, Qiang Yu, Shuang Liu, Binghai Zhou, Jiuliang Yan, Wentao Zhang, Xiaoqiang Li, Yongfeng Xu, Yongsheng Xiao, Jian Zhou, Jia Fan, Mien-Chie Hung, Qinghai Ye, Hui Li, Lei Guo

Faculty, Staff and Student Publications

Functional roles of SIGLEC15 in hepatocellular carcinoma (HCC) were not clear, which was recently found to be an immune inhibitor with similar structure of inhibitory B7 family members. SIGLEC15 expression in HCC was explored in public databases and further examined by PCR analysis. SIGLEC15 and PD-L1 expression patterns were examined in HCC samples through immunohistochemistry. SIGLEC15 expression was knocked-down or over-expressed in HCC cell lines, and CCK8 tests were used to examine cell proliferative ability in vitro. Influences of SIGLEC15 expression on tumor growth were examined in immune deficient and immunocompetent mice respectively. Co-culture system of HCC cell lines and …

De Novo Missense Variants In Zbtb47 Are Associated With Developmental Delays, Hypotonia, Seizures, Gait Abnormalities, And Variable Movement Abnormalities, Scott K Ward, Alexandrea Wadley, Chun-Hui Anne Tsai, Paul J Benke, Lisa Emrick, Kristen Fisher, Kimberly M Houck, Hongzheng Dai, Undiagnosed Diseases Network, Maria J Guillen Sacoto, William Craigen, Kimberly Glaser, David R Murdock, Luis Rohena, Karin E M Diderich, Hennie T Bruggenwirth, Brendan Lee, Carlos Bacino, Lindsay C Burrage, Jill A Rosenfeld

Faculty, Staff and Students Publications

The collection of known genetic etiologies of neurodevelopmental disorders continues to increase, including several syndromes associated with defects in zinc finger protein transcription factors (ZNFs) that vary in clinical severity from mild learning disabilities and developmental delay to refractory seizures and severe autism spectrum disorder. Here we describe a new neurodevelopmental disorder associated with variants in ZBTB47 (also known as ZNF651), which encodes zinc finger and BTB domain-containing protein 47. Exome sequencing (ES) was performed for five unrelated patients with neurodevelopmental disorders. All five patients are heterozygous for a de novo missense variant in ZBTB47, with p.(Glu680Gly) (c.2039A>G) detected …

Choosing Your “Healthiest” Embryo After Dobbs: Polygenic Screening And Distinctive Challenges For Truth In Advertising And Informed Consent, Dov Fox, Sonia Suter, Meghna Mukherjee, Stacey Pereira, Gabriel Lázaro-Muñoz

Center for Medical Ethics and Health Policy Staff Publications

Polygenic embryo screening ("PES") analyzes embryos for hundreds or thousands of genomic loci to generate risk scores that estimate genetic susceptibility to conditions and traits compared to the general population. The technology is commercially marketed directly to consumers. Companies focus mostly on medical conditions, sometimes in ways that oversell its advantages and efficacy, encouraging fertility patients to "choose your healthiest embryo" and "protect your future child from genetic risks." The advertising of PES trades on norms of children's health and good parenting and reinforces those normative ideals. While it is easy to assume PES will be constrained in practice by …

Study Protocol For Measuring Stigmatization In Persistent Tic Disorders: Development And Validation Of The Tourette Discrimination-Stigmatization Scale, Jaclyn M Martindale, Victor M Ringheanu, Kelly A Pring, Sandra Norona, Kimberly Wiseman, Roy E Strowd, Leah Chapman, Joseph Rigdon, Stephen R Rapp, Eric A Storch, Edward Ip, Jonathan W Mink

Center for Medical Ethics and Health Policy Staff Publications

Introduction: Persistent Tic Disorders such as Tourette Syndrome are common neurodevelopmental disorders that are highly stigmatized. Many individuals with Persistent Tic Disorders experience peer rejection, loneliness, and self-stigma. Experiencing stigmatization during childhood can influence the persistence of moderate-to-severe tics later in life. Additionally, these factors have been associated with increased suicidal ideation, suicide attempts, and psychiatric symptom severity. There is a need for interventions to reduce stigma and stigmatization in Persistent Tic Disorders. Before developing cost-effective interventions to mitigate stigma's profound downstream health impacts, a reliable measure of stigmatization must be created. The overarching goal of this research is to …