Digital Commons Network^™

Rare But Relevant? Assessing Variants In Dystonia-Linked Genes In Parkinson's Disease, Lara M Lange, Zih-Hua Fang, Laurel Screven, Ai Huey Tan, Roy N Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L I Frost, Joseph Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, Gregor Kuhlenbäumer, Chin-Hsien Lin, Lukas Pavelka, Maria Teresa Periñan, Samia Ben Sassi, Tommaso Schirinzi, Jung Hwan Shin, Joshua M Shulman, Yi Wen Tay, Ryan Uitti, Tom Warner, Zbigniew K Wszolek, Lesley Wu, Ruey-Meei Wu, Kirsten E Zeuner, Cornelis Blauwendraat, Andrew Singleton, Niccolò E Mencacci, Huw R Morris, Shen-Yang Lim, Katja Lohmann, Christine Klein

Faculty, Staff and Students Publications

Background: Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear.

Objective: The aim was to assess the frequency of dystonia-linked pathogenic variants in PD.

Methods: We screened sequencing data from 15,684 individuals (8272 PD, 3200 atypical parkinsonism, and 4212 unaffected) from the Global Parkinson's Genetics Program (GP2) and Accelerating Medicines Partnership-Parkinson's Disease (AMP-PD) for variants in genes linked to isolated dystonia, dystonia-parkinsonism, and myoclonus-dystonia.

Results: Pathogenic variants were identified only in PD patients. Forty-five PD individuals (0.54%) carried 26 distinct (likely) pathogenic variants in nine dystonia-linked genes, most …

Genome-Wide Gene-Sleep Interaction Study Identifies Novel Lipid Loci In 732,564 Participants, Raymond Noordam, Wenyi Wang, Pavithra Nagarajan, Heming Wang, Michael R Brown, Amy R Bentley, Qin Hui, Aldi T Kraja, John L Morrison, Jeffrey R O'Connel, Songmi Lee, Karen Schwander, Traci M Bartz, Lisa De Las Fuentes, Mary F Feitosa, Xiuqing Guo, Xu Hanfei, Sarah E Harris, Zhijie Huang, Mart Kals, Christophe Lefevre, Massimo Mangino, Yuri Milaneschi, Peter J Van Der Most, Natasha L Pacheco, Nicholette D Palmer, Varun Rao, Rainer Rauramaa, Quan Sun, Yasuharu Tabara, Dina Vojinovic, Yujie Wang, Stefan Weiss, Qian Yang, Wei Zhao, Wanying Zhu, Md Abu Yusuf Ansari, Hugues Aschard, Pramod Anugu, Themistocles L Assimes, John Attia, Laura D Baker, Christie Ballantyne, Lydia Bazzano, Eric Boerwinkle, Brain Cade, Hung-Hsin Chen, Wei Chen, Yii-Der Ida Chen, Zekai Chen, Kelly Cho, Ileana De Anda-Duran, Latchezar Dimitrov, Anh Do, Todd Edwards, Tariq Faquih, Aroon Hingorani, Susan P Fisher-Hoch, J Michael Gaziano, Sina A Gharib, Ayush Giri, Mohsen Ghanbari, Hans Jörgen Grabe, Mariaelisa Graff, C Charles Gu, Jiang He, Sami Heikkinen, James Hixson, Yuk-Lam Ho, Michelle M Hood, Serena C Houghton, Carrie A Karvonen-Gutierrez, Takahisa Kawaguchi, Tuomas O Kilpeläinen, Pirjo Komulainen, Henry J Lin, Gregorio V Linchangco, Annemarie I Luik, Jintao Ma, James B Meigs, Joseph B Mccormick, Cristina Menni, Ilja M Nolte, Jill M Norris, Lauren E Petty, Hannah G Polikowsky, Laura M Raffield, Stephen S Rich, Renata L Riha, Thomas C Russ, Edward A Ruiz-Narvaez, Colleen M Sitlani, Jennifer A Smith, Harold Snieder, Tamar Sofer, Botong Shen, Jingxian Tang, Kent D Taylor, Maris Teder-Laving, Rima Triatin, Michael Y Tsai, Henry Völzke, Kenneth E Westerman, Rui Xia, Jie Yao, Kristin L Young, Ruiyuan Zhang, Alan B Zonderman, Xiaofeng Zhu, Jennifer E Below, Simon R Cox, Michelle Evans, Myriam Fornage, Ervin R Fox, Nora Franceschini, Sioban D Harlow, Elizabeth Holliday, M Arfan Ikram, Tanika Kelly, Timo A Lakka, Deborah A Lawlor, Changwei Li, Ching-Ti Liu, Reedik Mägi, Alisa K Manning, Fumihiko Matsuda, Alanna C Morrison, Matthias Nauck, Kari E North, Brenda Wjh Penninx, Michael A Province, Bruce M Psaty, Jerome I Rotter, Tim D Spector, Lynne E Wagenknecht, Ko Willems Van Dijk, Lifelines Cohort Study, Million Veteran Program, Cashell E Jaquish, Peter Wf Wilson, Patricia A Peyser, Patricia B Munroe, Paul S De Vries, W James Gauderman, Yan V Sun, Han Chen, Clint L Miller, Thomas W Winkler, Dabeeru C Rao, Susan Redline, Diana Van Heemst

Faculty, Staff and Student Publications

Background and aims: Deviations from the population mean in sleep duration have been associated with increased risk for developing dyslipidemia and atherosclerotic cardiovascular disease, but the mechanism of effect is poorly characterized. We performed large-scale genome-wide gene-sleep interaction analyses of lipid levels to identify genetic variants underpinning the biomolecular pathways of sleep-associated lipid disturbances and to suggest possible druggable targets.

Methods: We collected data from 55 cohorts with a combined sample size of 732,564 participants (87 % European ancestry) with data on lipid traits (high-density lipoprotein [HDL-c] and low-density lipoprotein [LDL-c] cholesterol and triglycerides [TG]). Short (STST) and long (LTST) …

Insulinemic And Inflammatory Dietary Patterns And Colorectal Cancer Risk: A Dietary Data Harmonization Study Of One Million Participants In The Consortium Of Metabolomics Studies (Comets), Ni Shi, Rachel Hoobler, Rhea Harewood, Amanda E Toland, Demetrius Albanes, Emmanouil Bouras, Marc J Gunter, Linda M Liao, Steven C Moore, Fulvio Ricceri, Jerome I Rotter, Rashmi Sinha, Rachael Stolzenberg-Solomon, Anne Tjønneland, Alexis C Wood, Danxia Yu, Mary C Playdon, Fred K Tabung

Children’s Nutrition Research Center Staff Publications

Background: Inflammatory and insulinemic dietary patterns have been associated with colorectal cancer (CRC) risk, but generalizability across diverse populations with heterogeneous food supplies and dietary behaviors has not been established.

Objectives: We harmonized disparate dietary and covariate data on a large scale to compute the reverse Empirical Dietary Index for Hyperinsulinemia (rEDIH), reverse Empirical Dietary Inflammatory Pattern (rEDIP), and Healthy Eating Index (HEI)-2015 scores, and tested their associations with CRC risk.

Methods: We leveraged data among 501,892 women and 407,390 men from 6 cohorts across the United States (NIH-AARP, Multi-Ethnic Study of Atherosclerosis, Prostate, Lung, Colorectal, and Ovarian, SCCS) and …

Knowledge, Interest, And Willingness Of Hematologists And Oncologists To Care For Adults With Vascular Anomalies, Bryan A Sisk, Anna M Kerr, Sally Cohen-Cutler, Margaret T Lee, Katie Harmoney, Alexandra Borst, Shelley E Crary, Shelbie Fishman, Stephanie Chen, Danielle Cicka, Stephanie Milam, Christine Bereitschaft, Kristen M Sanfilippo

2020-Current year OA Pubs

BACKGROUND: Vascular anomalies (VAs) are rare diseases that cause significant morbidity. Adults with VAs struggle to access expert care. Hematologists and oncologists in adult medicine are positioned to provide expert care, but no prior studies have characterized their openness to this role.

OBJECTIVES: This study characterized the experience, confidence, willingness, and motivating factors for hematologists/oncologists to care for adults with VAs.

METHODS: We surveyed United States hematologists and oncologists in adult medicine between October 2024 and March 2025. The questionnaire assessed knowledge, experience, confidence, and willingness to care for adults with VAs, as well as open-ended questions assessing factors influencing …

Chronobiology Of Meal Timing In Early-Stage Hypertension: A Controlled Feeding Pilot Study Investigating The Effects On Renal And Vascular Function, Natalie J. Bohmke, Brittany Barton, Patrice Wiecek, Paula Rodriguez-Miguelez, Dave L. Dixon, Youngdeok Kim, Salvatore Carbone, Danielle L. Kirkman

EVMS School of Health Professions Faculty Publications

Lifestyle intervention is critical for young adults with early-stage hypertension. A Western diet has negative effects on kidney function and blood pressure; however, time-of-day effects are understudied. We hypothesized that consumption of a Western-style meal that is misaligned with the endogenous circadian rhythm would have adverse effects on blood pressure, kidney function, and vascular function. Ten young adults with elevated blood pressure or stage 1 hypertension (means ± SD: 26 ± 8 yr, 50% female) underwent a randomized crossover, isocaloric controlled feeding intervention. Participants were allocated to receive a Western-style meal high in sodium, sugar, and saturated fat in the …

First-Generation Medical School Applicants: A Quantitative Study Designed To Identify Areas Of Educational Support, Bethsabe Romero, Amanda K. Burbage

EVMS School of Health Professions Faculty Publications

First-generation (First Gen) students are unique medical school applicants. Due to their lived experience, they approach patient care by prioritizing trust, comfort and understanding. They have proven ability to overcome obstacles and were found to be more resilient than their continuing generation (Cont Gen) peers. Despite these notable attributes, they face unique challenges in gaining medical school acceptance. There are very few quantitative studies examining this student subpopulation, and our study identifies characteristics of first-generation medical school applicants while highlighting areas of needed support. This cross-sectional study used deidentified Application and Matriculating Student Questionnaire survey data that was obtained from …

Determinants Of Patient Satisfaction In An Academic Primary Care Setting: A Cross-Sectional Study Of The Postpandemic Era, Alvin Maliakal, Rajita Kanapareddy, Zooha Altaf, Janani Anbazhagan, Kristin Olson, Cynthia Avila, Rehan Qayyum

Department of Medicine Faculty Publications

Background

Patient satisfaction, a key indicator of healthcare quality, is associated with improved adherence, continuity, and outcomes. However, limited evidence describes determinants of patient satisfaction in contemporary primary care settings reflecting the postpandemic era, when care delivery models and patient expectations have evolved substantially.

Objective

To evaluate the sociodemographic and clinical factors associated with patient satisfaction in an academic primary care setting following the postpandemic era.

Methods

We conducted a cross-sectional survey of adult patients (≥18 years) attending a primary care clinic. Participants completed a self-administered questionnaire including the Visit-Specific Satisfaction Questionnaire (VSQ-9) and measures of sociodemographic and clinical characteristics. …

Micrornas Regulated By Pregnancy Target Antiviral And Cancer Immunity Overlapping With The Hiv Interactome, Paula F. T. Cezar-De-Mello, Jonathan M. Dreyfuss, Pai-Lien Chen, Hidemi Yamamoto, Xiaoming Gao, Hui Pan, Charles Morrison, Gustavo F. Doncel, Robert L. Barbieri, Raina N. Fichorova

CONRAD Publications

Innate immunity predictors of HIV-1 risk and pathogenesis vary with reproductive hormones, pregnancy, and lactation, yet the underlying mechanisms remain unclear. We hypothesized that pregnancy-associated physiological adaptations alter systemic microRNA (miRNA) expression, thereby regulating immunity, pathogenesis and susceptibility to infection. We analyzed 174 serum samples from 88 participants in a longitudinal cohort from Uganda and Zimbabwe across pre-pregnancy (PP), pregnancy (P), and postpartum breastfeeding (BF). Cell-free peripheral blood miRNAs (n = 2083) were profiled using HTG EdgeSeq. Pregnancy-specific miRNAs were identified by intersecting differentially expressed (DE) miRNAs from P vs. PP and P vs. BF comparisons. miRNA targets and pathways …

Predicting Oral Hiv Pre-Exposure Prophylaxis Efficacy In Cisgender Women Across Pregnancy And Postpartum, Yifan Yu, Kristina M. Brooks, Gustavo F. Doncel, Brookie M. Best, Mark A. Marzinke, Mark Mirochnick, Peter L. Anderson, Landon Myer, Connie Celum, Renee Heffron, Jenell Coleman, Dvora L. Joseph Davey, Lanxin Zhang, Max Von Kleist, Craig W. Hendrix, Jeremiah D. Momper, Robert Bies, Rachel K. Scott

CONRAD Publications

Cisgender women face an increased risk of HIV acquisition during pregnancy and postpartum. Oral pre-exposure prophylaxis (PrEP) with emtricitabine and tenofovir disoproxil fumarate (F/TDF) is recommended in pregnancy despite limited published pharmacokinetic (PK) and efficacy data during pregnancy. Altered PK during pregnancy may reduce prophylactic efficacy and necessitate higher adherence. Tenofovir alafenamide (TAF) is a newer tenofovir prodrug with higher tenofovir diphosphate (TFV-DP) exposure in peripheral blood mononuclear cells (PBMCs), but the prophylactic efficacy of F/TAF across different reproductive stages in women is understudied. We adapted a multiscale modeling framework to predict the prophylactic efficacy of F/TDF and F/TAF across …

Characteristics Of Cerebral Palsy In The Midwestern Us, Susie Kim, Kelsey Steffen, Lauren Gottschalk-Henneberry, Jennifer Miros, Amy Robichaux-Viehoever, Karen Taca, Bhooma R Aravamuthan

2020-Current year OA Pubs

OBJECTIVE: Cerebral palsy (CP) is the most common lifelong motor disability worldwide. Yet, data is limited on how CP manifests in the US. Our objective was to characterize and determine factors affecting functional outcomes in a large population of young people with CP in the Midwestern US.

METHODS: We integrated caregiver and clinician-facing standardized data entry into routine clinical care at a tertiary care CP center (https://bit.ly/CP-Intake-Methodology). We extracted this data for people with an ICD10 diagnosis of CP seen between March 22, 2023 and December 28, 2023 and used it to describe CP characteristics and determine factors affecting the …

Co-Curricular Science Experiences Support Undergraduate Students' Science Gpa, Degree Completion, Workforce Entry, And Motivation, Lisa Linnenbrink-Garcia, Tony Perez, Stacy J. Priniski, Sharlyn Ferguson-Johnson, John Keane, Alexandra Lee, Kristy A. Robinson, You-Kyung Lee, Goun Choi, Matthew J. Schell, Danielle N. Berry, Rochelle Schwatz-Bloom

STEMPS Faculty Publications

Science co-curricular experiences (SciXP)-such as research experiences and internships-are a common, yet understudied, strategy to enhance undergraduates' science career pursuit. Using a doubly robust method to account for initial differences in science motivation, academic readiness, and career intentions, we investigated whether SciXP participation across four years of college predicted undergraduates' (N = 1984) science achievement, career persistence, and motivation at the end of college and after graduation. Participation in science co-curricular experiences was positively associated with science GPA, earning a science degree, being in a more science-intensive career one to two years post-graduation, and viewing science as important and useful …

Pharmacogenetic Hslco1b1*14-Guided Dosing Of Methotrexate In Transgenic Arthritic Mice Normalizes Exposure And Response., Felicia Gooden, Brennan D. Meier, Griffin D. Shaffer, Kim Gibson, Paul Toren, Nieko C. Punt, Sandhya Subash, Dilip K. Singh, Bhagwat Prasad, Laura Ramsey, Zachary L. Taylor

Manuscripts, Articles, Book Chapters and Other Papers

Juvenile idiopathic arthritis (JIA) is a chronic autoimmune disease that negatively affects ~100,000 children under the age of 16 in the United States. About ~30% of these patients fail first-line drug therapy with low-dose methotrexate (MTX) due to poor tolerability or lack of efficacy. The SLCO1B1*14 allele is associated with increased MTX clearance and has been linked to reduced overall drug exposure and nonresponse to MTX in JIA patients. Herein, we describe transgenic hSLCO1B1*14 and hSLCO1B1*1 DBA1/J mSlco1b2 knock-out mice, which we used to assess arthritic response to MTX using the collagen-induced arthritis model. Mass spectrometry-based proteomics analysis revealed that …

Expanding The Genetic And Phenotypic Spectrum Of Polrmt-Related Mitochondrial Disease., Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V Y Knowles, Eleni Mavraki, Miriam Elbracht, Nergis Güzel, Thomas Herberhold, Ingo Kurth, Andrea Maier, Larissa Mattern, Carol J. Saunders, Helen Mccullagh, Katrin Õunap, Saskia B. Wortmann, Andre Reis, Lei Zhang, Claes M. Gustafsson, Robert Mcfarland, Robert W. Taylor

Manuscripts, Articles, Book Chapters and Other Papers

Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity. Genomic testing is increasingly used as the first step in the diagnostic pathway for mitochondrial diseases. We used next-generation sequencing followed by bioinformatic data analysis to identify potentially damaging variants in the POLRMT gene (NM_005035.4) in six new affected individuals. Structural protein analysis predicted the detrimental impact of variants on POLRMT protein structure. Patients show extended phenotypic abnormalities often presenting early in life with features including global developmental delay, cognitive impairment, short stature and muscular hypotonia. This study expands the genetic and phenotypic landscape of mitochondrial …

Greater Body Dissatisfaction At Admission Is Associated With Lower Bmi At Discharge In Anorexia Nervosa: Predictive Validity Of The Eating Pathology Symptoms Inventory., Danielle A N Chapa, Marianna L. Thomeczek, Brianne N. Richson, Alan Duffy, Kara A. Christensen Pacella, Kelsie T. Forbush, Renee D. Rienecke, Dan V. Blalock, Sara R. Gould, Victoria L. Perko, Philip S. Mehler

Manuscripts, Articles, Book Chapters and Other Papers

People with anorexia nervosa (AN) engage in dietary restriction and other weight loss behaviors that result in dangerously low body weight, leading to an increased risk for mortality and medical complications. Weight gain is one of the most important indicators of treatment progress and recovery for AN. There are limited predictors of weight gain for patients with AN, making it difficult for clinicians to anticipate which patients are likely to respond favorably to treatment. Thus, there is a need to identify additional, potentially modifiable predictors of weight gain within a higher level of care for AN. This study tested the …

Safety And Effectiveness Of Emicizumab In People With Haemophilia A Enrolled In The Athn 7 Haemophilia Natural History Study., Tyler W. Buckner, Shannon L. Carpenter, Nabil Daoud, Christine L. Kempton, Lucy Lee, Lynn Malec, Thomas W. Mclean, Paul Morton, Carrie O'Neill, Janice M. Staber, Michael Wang, Stacy E. Croteau, Michael Recht

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The Natural History Study of the Safety, Effectiveness, and Practice of Treatment for People with Haemophilia (ATHN 7) monitors use of contemporary haemophilia therapies, including emicizumab, a bispecific antibody substituting for activated factor (F)VIII in people with haemophilia A (HA).

AIM: To report participant characteristics and real-world safety and effectiveness of emicizumab in ATHN 7.

METHODS: ATHN 7 is a prospective observational cohort study conducted across 26 American Thrombosis and Haemostasis Network (ATHN)-affiliated sites. People with HA receiving emicizumab were eligible for inclusion in this analysis. Clinical information was collected quarterly through participant interview and medical record review. Safety …

Exploring The Acceptability Of Integrating Dietitians Into Primary Care Dental Services For Children, Lauren Hallewell, Raul Bescos, Zoe Brookes, Tracey Parkin, Robert Witton, Patricia Casas-Agustench

School of Health Professions

BACKGROUND: Dental caries is a common childhood non-communicable disease strongly associated with high sugar intake. Beyond oral health, a poor diet can affect children's growth, development, and overall well-being. While dietary advice is central to preventive dental care, some primary care dental clinics have introduced body mass index (BMI) assessments and further dietary advice to address wider nutritional concerns in children. However, these efforts are often constrained by limited nutrition training, time constraints and concerns about sensitivity. Integrating dietitians into primary dental care may help overcome these barriers by enhancing dietary guidance, supporting broader nutritional needs and facilitating structured BMI …

Defining Consensus‐Based Components For Integrating Dietitians Into Primary Dental Care For Paediatric Populations: A Delphi Study, Lauren Hallewell, Raul Bescos, Zoe Brookes, Robert Witton, Patricia Casas‐Agustench

School of Health Professions

Background: Diet is a modifiable risk factor linking oral and systemic health, contributing to dental caries and weight-related outcomes (including underweight, overweight and obesity) in the paediatric population. However, dietary advice provided by dental professionals in primary dental care is often brief and sugar-focused, representing a missed opportunity to address shared risk factors. Integrating dietitians into primary dental care may support more holistic paediatric preventative care. Objective: To develop expert consensus on the components required to integrate dietitians into primary dental care to address diet as a common risk factor in paediatric oral health and weight-related outcomes. Methods: A three-round …

Conventional Versus Advanced Imaging Selection For Endovascular Treatment Of Basilar Artery Occlusion Strokes., Huanwen Chen, Marco Colasurdo, Hidetoshi Matsukawa, Conor Cunningham, Ilko Maier, Sami Al Kasab, Pascal Jabbour, Joon-Tae Kim, Stacey Quintero Wolfe, Ansaar Rai, Robert M. Starke, Marios-Nikos Psychogios, Edgar A. Samaniego, Nitin Goyal, Shinichi Yoshimura, Hugo Cuellar, Jonathan A. Grossberg, Ali Alawieh, Ali Alaraj, Mohamad Ezzeldin, Daniele G. Romano, Omar Tanweer, Justin Mascitelli, Isabel Fragata, Adam Polifka, Fazeel Siddiqui, Joshua Osbun, Roberto Crosa, Charles Matouk, Min S. Park, Michael R. Levitt, Waleed Brinjikji, Mark Moss, Travis Dumont, Ergun Daglioglu, Richard Williamson, Pedro Navia, Reade De Leacy, Shakeel Chowdhry, David J. Altschul, Alejandro M. Spiotta, Peter Kan

Department of Medicine Faculty Papers

INTRODUCTION: Endovascular thrombectomy (EVT) is an effective treatment for basilar artery occlusion (BAO) stroke in select patients. While there is a growing body of literature suggesting that advanced imaging modalities such as computed tomography perfusion (CTP) and magnetic resonance (MR) may not be necessary for selecting anterior circulation large vessel occlusion stroke patients for EVT, whether advanced imaging may be superior to conventional imaging (non-contrast CT and CT angiography) in identifying good treatment candidates among BAO patients is less clear.

PATIENTS AND METHODS: This was a multicenter retrospective cohort study of BAO EVT patients treated from 2013 to 2022 in …

Bibliometric Analysis: Publish Or Perish And Vosviewer For Research Trends On Online Violence (2023–2025), Indriyana Rachmawati, Widya Juwita Sari, Sesya Dias Mumpuni

Buletin Konseling Inovatif

Cases of online violence have become increasingly widespread since the end of the COVID-19 pandemic, during which individuals began to grow dependent on the digital world. The digital realm has become a fundamental aspect of human life, bringing with it new forms of online violence. Online violence such as threats, hate speech, harassment, and bullying has emerged as a new weapon to control, isolate, and even torment affected victims. However, only a small body of literature has explored the changing nature of online violence following COVID-19. This study aims to review the literature on patterns of online violence post-pandemic, focusing …

External Multicenter Validation Of The Esah Score For Predicting Outcomes After Subarachnoid Hemorrhage, Natália Vasconcellos De Oliveira Souza, Rohan Sharma, Otavio Frederico De Toledo, Ingrid Pereira Marques, Salvador F. Gutierrez-Aguirre, Lara-Velazquez Montserrat, Eric Sauvageau, Naval Neeraj, Amin Aghaebrahim, Feres Chaddad Neto, Ricardo A. Hanel, Gisele Sampaio Silva, William David Freeman

Jefferson Hospital Staff Papers and Presentations

Reliable assessment of prognosis after aneurysmal subarachnoid hemorrhage (SAH) is essential to inform clinical decision-making and prevent premature assumptions of poor outcome. The enhanced SAH (eSAH) score combines three routinely available variables-age, Glasgow Coma Scale (GCS), and subarachnoid hemorrhage blood volume (SAHV)-to provide an objective framework for early outcome stratification. SAHV is estimated using the ABC/2-derived ellipsoid method applied across five major cisternal compartments on non-contrast CT. While the eSAH score has shown promise in initial derivation studies, its external performance and calibration have not yet been validated across diverse healthcare settings. We conducted a retrospective cohort study using consecutive …

Membrane Il-18 Identifies A Human Macrophage Subset With Distinct Proteomic And Functional Traits, Chiara Vitale, Marco Colonna, Et Al.

2020-Current year OA Pubs

This study contributes to the characterization of human macrophages in normal and pathological conditions such as cancer. We characterized a macrophage population expressing membrane-associated IL-18 (mIL-18) that shows peculiar proteomic, phenotypic, ultrastructural, and functional properties. mIL-18+ macrophages exhibit increased levels of key proteins involved in pathogen recognition, activation, migration, and endocytosis. They also display specialized functions in vesicle and actin filament transport and lipid metabolism, and have typical mitochondrial traits. Importantly, mIL-18+ cells dominate the peritoneal fluid of adult cancer patients and are present in the bone marrow of children with neuroblastoma. They express high levels of TREM2 but display …

Co-Developing Strategies For Leprosy Management In Malaysia: A Transdisciplinary Research Approach Involving Individuals Affected By Leprosy And Other Stakeholders, Norana Abdul Rahman, Vaikunthan Rajaratnam, Ruth Mh Peters, Marjolein Bm Zweekhorst, Pamela Wright Phd, Ms, Med, Rn, Cen, Karen Morgan, Mohamed Rusli Abdullah

Publications

Despite Malaysia's low leprosy prevalence, new cases continue to emerge in rural and Indigenous communities. National strategies often prioritise elimination and surveillance, while overlooking the needs and challenges of individuals affected by leprosy and those managing their care. This study employed a transdisciplinary research approach, guided by the Dialogue Model, to co-develop context-specific strategies to improve the lives of those affected through participatory engagement with both groups. Conducted across three high-burden states in Peninsular Malaysia, the research involved a desk review and stakeholder mapping, followed by 40 in-depth interviews with affected individuals and other stakeholders. These were complemented by a …

Speeding Up Interval Estimation For R2-Based Mediation Effect Of High-Dimensional Mediators Via Cross-Fitting, Zhichao Xu, Chunlin Li, Sunyi Chi, Tianzhong Yang, Peng Wei

Faculty, Staff and Student Publications

Mediation analysis is a useful tool in investigating how molecular phenotypes such as gene expression mediate the effect of exposure on health outcomes. However, commonly used mean-based total mediation effect measures may suffer from cancellation of component-wise mediation effects in opposite directions in the presence of high-dimensional omics mediators. To overcome this limitation, we recently proposed a variance-based R-squared total mediation effect measure that relies on the computationally intensive nonparametric bootstrap for confidence interval estimation. In the work described herein, we formulated a more efficient two-stage, cross-fitted estimation procedure for the R2 measure. To avoid potential bias, we performed …

Nutrition Support Adequacy In Children With Biliary Atresia After Liver Transplant, Nicole Knebusch, Manpreet Virk, Moreshwar S Desai, Marwa Mansour, Stacey Beer, Brittany Pearo, Kelby Fuller, Krupa Mysore, John Goss, Thomas Fogarty, Fernando Stein, Jorge A Coss-Bu

Faculty, Staff and Students Publications

No abstract provided.

The Impact Of Pasifikas In Medicine On Pacific Islander Medical Student Experiences, Devon Hori Harvey, Micah Ngatuvai, Siale Vaitohi, Paige E. Faasuamalie, Maegan Tupinio, Lisa H. Smith

Student Papers, Posters & Projects

BACKGROUND: Pacific Islanders experience significant health disparities. One contributing aspect to these disparities is the lack of racial concordance as Pacific Islanders are underrepresented in the U.S. physician work force. Several factors contribute to this underrepresentation including lack of support systems for Pacific Islander premed and medical students. Pasifikas in Medicine (PiM) is a recently established national student organization founded to provide support for Pacific Islander premed students, medical students, residents, fellows and attending physicians. This study seeks to understand the impact of PiM on medical student experiences.

METHODS: An anonymous survey was distributed to the PiM listserv and to …

Treatment Patterns For Genitourinary Syndrome Of Menopause: A Trinetx Analysis, Anushka Ghosh, Maria D'Amico, Yash B. Shah, Whitney R. Smith, Mihir S. Shah, Costas D. Lallas, Alana M. Murphy

Department of Urology Faculty Papers

BACKGROUND: Genitourinary syndrome of menopause (GSM) is a highly prevalent, underdiagnosed condition that can significantly impair quality of life (QoL). This study evaluates real-world treatment trends for GSM to better understand current management practices and highlight ongoing gaps in care. The background is in a different font than the rest of the abstract.

METHODS: We queried the TriNetX database for patients with a diagnosis of postmenopausal atrophic vaginitis (ICD N95.2) and treatment information from 2004-2024. A combination of RxNorm and International Classification of Diseases-10 (ICD) codes was used to classify disease and treatment type, including topical estrogen (RxNorm 4083, 4099), …

Gender, Mental Health Symptoms, Loss To Clinic, And Viral Non-Suppression 6 Months After Hiv Care Initiation Among A Cohort Of People With Hiv In Cameroon, Angela M Parcesepe, Lindsey M Filiatreau, Peter Vanes Ebasone, Anastase Dzudie, Marcel Yotebieng, Kathryn Anastos, Eric Pefura-Yone, Annereke Nyenti, Denis Nash

2020-Current year OA Pubs

BACKGROUND: People with HIV (PWH) experience high levels of mental health or substance use disorders (MSDs) which may compromise HIV treatment outcomes. Differences in the relationship between MSDs and HIV treatment outcomes by gender remain understudied.

METHODS: We conducted interviews with 426 PWH aged ≥ 21 years initiating HIV care in Cameroon between June 2019 and March 2020. Clinic data and laboratory results were used to ascertain loss to clinic and viral non-suppression six months after HIV care initiation. We used log binomial regression models to assess the relationship between symptoms of depression (PHQ-9 scores > 9), anxiety (GAD-7 scores > 9), …

Chemotherapy-Induced Adipo-Lineage Cell Senescence Drives Bone Loss, Ganesh Kumar Raut, Taylor Malachowski, Anupama Melam, Renata Ramalho-Oliveira, Taylor Holt, Xianmin Luo, Zhangting Yao, Douglas V Faget, Qihao Ren, David G Denardo, Sheila A Stewart

2020-Current year OA Pubs

Chemotherapy-induced bone loss is a debilitating and common side effect of cancer treatment, though its underlying mechanisms remain poorly understood. Here, we show that, despite the systemic administration of chemotherapy, cellular senescence is restricted to bone marrow adipo-lineage cells specifically Cxcl12-abundant reticular (CAR) cells and bone marrow adipocytes (BMAds). Induction of senescence within these populations promotes RANK ligand (RANKL)-mediated osteoclastogenesis, leading to significant bone loss. Notably, we find that inhibition of the p38MAPK-MK2 pathway suppresses the senescence-associated secretory phenotype (SASP), including RANKL production abrogating bone loss. Furthermore, treatment with the senolytic combination dasatinib and quercetin (D + Q) selectively eliminates …

Mental Health And Beliefs About Abortion Access Following Changes To Reproductive Healthcare Laws In 2022: Findings From Oklahoma, Munjireen Sifat, Laili K. Boozary, Tina N. Le, Julia Mcquoid, Brittany Zaring-Hinkle, Sarah Tonkin, Lizbeth Benson, Bingjing Mao, Motolani Ogunsanya, Ruosi Shao, Amy M. Cohn, Allyson Shortle, Darla E. Kendzor

Department of Medical Oncology Faculty Papers

INTRODUCTION: A secondary analysis of cross-sectional survey data was conducted to characterize beliefs about abortion access in Oklahoma, measure stress associated with the overturn of Roe vs. Wade (2022), and evaluate the potential relationship between post-Roe stress (PR stress) and mental health.

METHODS: From August through September 2022, adult Oklahomans (N = 1793) were surveyed about their sociodemographic characteristics, beliefs about abortion access, frequency of past-month stress related to the overturn of Roe vs. Wade, and mental health. Beliefs about abortion access were characterized overall and within sociodemographic groups. The relationship between PR stress and mental health was evaluated, and …

Subgroup Analyses Of The Phase 3 Focus Study Of Melphalan/Hepatic Delivery System In Patients With Unresectable Metastatic Uveal Melanoma, Jonathan S. Zager, Marlana Orloff, Pier Francesco Ferrucci, Junsung Choi, David J. Eschelman, Evan S. Glazer, Aslam Ejaz, Erika Richtig, Sebastian Ochsenreither, Sunil A. Reddy, Michael C. Lowe, Georgia M. Beasley, Anja Gesierich, Martin Gschnell, Reinhard Dummer, Ana Arance, Stephen William Fenwick, Joseph J. Sacco, Johnny John, Matthew Wheater, Christian H. Ottensmeier

Department of Medical Oncology Faculty Papers

PURPOSE: To assess efficacy and safety in subgroups of patients treated with Melphalan/Hepatic Delivery System (melphalan/HDS), a drug/device combination for liver-directed treatment of metastatic UM (mUM) patients. Previously reported FOCUS study results indicated melphalan/HDS treatment provides a clinically meaningful response rate and favorable benefit-risk ratio in patients with unresectable mUM.

METHODS: Patients with mUM received treatment with melphalan (3.0 mg/kg ideal body weight) every 6-8 weeks for up to 6 cycles. Post hoc analyses of efficacy and safety were conducted for patient subgroups based on demographic and baseline disease characteristics.

RESULTS: 102 patients with mUM were enrolled; treatment was attempted …