Digital Commons Network^™

Pathways, Outputs And Impact Of Nih-Supported Bioinformatics And Genomics Graduate Trainees In Africa, Daudi Jjingo, Andrew Walakira, Suhaila Hashim, Cisse Cheickna, Ronald Galiwango, Caleb Kibet, Florence N Kivunike, Gerald Mboowa, Fredrick Elishama Kakembo, Babajide Ayodele, Jean-Baka Domelevo Entfellner, Santie De Villiers, Karen Wambui, Segun Fatumo, Tinashe Chikowore, John Mukisa, Alfred Ssekagiri, Nicholas Bbosa, Julius Mulindwa, Samuel Kyobe, Mike Nsubuga, Grace Kebirungi, Eric Katagirya, Savannah Mwesigwa, Ibra Lujumba, Rogers Kamulegeya, Samuel Kirimunda, Stephen Kanyerezi, Shahiid Kiyaga, Ivan Sserwadda, Davis Kiberu, Bernard S Bagaya, Julius Okwir, Patricia Nabisubi, Grace Nabakooza, Mugume Twinamatsiko Atwine, Ricard Sserunjogi, Rolanda Julius, Mariam Quiñones, Meghan Mccarthy, Phillip Cruz, Karlynn Noble, Christopher J Whalen, Darrell Hurt, Maria Y Giovanni, Michael Tartakovsky, Deogratius Ssemwanga, John M Kitayimbwa, Steven J Reynolds, Christopher C Whalen, Andrew Kambugu, Neil A Hanchard, Li Jian, Peter Amoako-Yirenkyi, Graeme Mardon, I King Jordan, Samson Pandam Salifu, Mamadou Wele, Ezekiel Adebiyi, Jeffrey G Shaffer, Seydou Doumbia, David Patrick Kateete, Michelle Skelton, Nicola Mulder, Jonathan K Kayondo, Daniel Masiga, H3africa Consortium

Faculty, Staff and Students Publications

Global biomedical and health research is increasingly relying on genomic and computational approaches, largely driven by the increasing volumes of nucleic acid sequencing. Concurrently, epidemiological studies and clinical records are generating enormous amounts of data amenable to disease modeling, machine learning, and artificial intelligence techniques. Bioinformatics and data science expertise is therefore essential for improved population health. Accordingly, in 2012, the US National Institutes of Health (NIH) in partnership with the Wellcome Trust, and with support from the African Society for Human Genetics, initiated the H3Africa (Human Heredity and Health in Africa) consortium. One of its key goals was to …

Assessing The Effects Of Ehealth Literacy And The Area Deprivation Index On Barriers To Electronic Patient Portal Use For Orthopedic Surgery: Cross-Sectional Observational Study, Audrey Lynn Litvak, Nicholas Lin, Kelly Hynes, Jason Strelzow, Jeffrey G Stepan

2020-Current year OA Pubs

BACKGROUND: As electronic patient portals (EPPs) continue to gain popularity and systems transition to online tools for scheduling, communication, and telehealth, patients without access or skills to use these tools may be overlooked.

OBJECTIVE: This study analyzed patient and neighborhood-level factors, including eHealth literacy level and the Area Deprivation Index (ADI), that may limit EPP access for orthopedic surgery.

METHODS: A cross-sectional, survey-based study was performed at a single urban tertiary academic medical center in the United States across foot and ankle, hand and upper extremity, and orthopedic trauma subspecialty clinics from June 21, 2022, to August 12, 2022. Survey …

Predicting Sepsis In Heart Failure Patients Supported By Left Ventricular Assist Devices: The Role Of Ve-Cadherin And Adam10, Shiyi Li, Iván Murrieta-Álvarez, Ismael Garcia, Katherine V Nordick, Rishav Bhattacharya, Shreyo Ghosh, Ronald A Shaju, Adel M Hassan, Carl P Walther, Camila Hochman-Mendez, Alexis E Shafii, Kenneth K Liao, Nandan K Mondal

Faculty, Staff and Students Publications

Vascular endothelial cadherin (VE-Cadherin) is a major endothelial adhesion molecule and can be cleaved explicitly by metalloproteinase domain-containing protein 10 (ADAM10). Vascular hyperpermeability may contribute to a greater susceptibility to sepsis in left ventricular assist device (LVAD) support patients. We aim to evaluate the efficacy of VE-Cadherin and ADAM10 for predicting sepsis in LVAD patients. We prospectively recruited 50 patients with advanced heart failure receiving LVAD therapy. Baseline and weekly postoperative blood samples (weeks 1-4) were collected, and plasma VE-cadherin and ADAM10 levels were measured. Sepsis occurred in 9 of 50 patients (18.0%). Across all sampling points, plasma VE-cadherin and …

N-Palmitoyl Glutamine Is A Candidate Mediator Of Cardiorespiratory Fitness, Jeremy M Robbins, Mark Benson, Anthony R P Verkerke, Gaurav Tiwari, Shuliang Deng, Prashant Rao, Usman A Tahir, Julian Avila-Pacheco, Xu Shi, Yuntian Guan, Foje-Geh Tendoh, Jacob L Barber, Patricia E Miller, Andrew S Perry, Michael E Hall, Alexis C Wood, Kent D Taylor, Wendy S Post, Stephen S Rich, Matthew Nayor, James G Wilson, Gregory D Lewis, Ravi V Shah, Jerome I Rotter, Scott A Summers, Laura M Raffield, Shingo Kajimura, Claude Bouchard, Clary B Clish, Mark A Sarzynski, Robert E Gerszten

Children’s Nutrition Research Center Staff Publications

Background: Cardiorespiratory fitness is an integrative measure of cardiometabolic health and predictor of survival, yet little is known about its molecular underpinnings. Small molecule metabolites and lipids are increasingly recognized as exercise-stimulated signaling molecules and candidate molecular transducers of cardiorespiratory fitness.

Methods: We performed nontargeted liquid chromatography mass spectrometry-based plasma metabolomics in 654 participants (mean age, 35 years; 55% women) from the HERITAGE Family Study (Health, Risk Factors, Exercise Training, and Genetics) who had cardiorespiratory fitness (maximal oxygen uptake [VO2max]) measured by cardiopulmonary exercise testing and underwent 20 weeks of supervised endurance training. Metabolite-VO2max relationships were assessed using linear regression …

Bio-Adrenomedullin Predicts Death And Major Adverse Cardiovascular Events In Cardiac Amyloidosis: A Cross-Continental Multicenter Study, Maximilian L Müller, Fabian Knebel, Katrin Hahn, Janin Schulte, Birte Arlt, Oliver Hartmann, Kaitlin M S Moore, Seiji Takashio, Yasuhiro Izumiya, Joshua D Mitchell, Kenichi Tsujita, Ulf Landmesser, Bettina Heidecker

2020-Current year OA Pubs

BACKGROUND: Bio-ADM (bioactive adrenomedullin) is a vasoactive peptide hormone that predicts clinical outcomes in heart failure-the main driver of adverse outcomes in cardiac amyloidosis (CA). This prospective observational study sought to assess the prognostic role of bio-ADM in CA.

METHODS: Patients with CA were enrolled from amyloid centers in Germany (observation cohort), Japan, and the United States (combined validation cohort). Bio-ADM was quantified using the sphingotest bio-ADM assay. Associations of bio-ADM with all-cause death and major adverse cardiovascular events over 2 years were assessed using Kaplan-Meier and Cox regression analyses. Likelihood ratio chi-square tests for nested models evaluated whether adding …

Trends In The Implementation Of The Cyberchondria Severity Scale: Bibliometric Analysis, Adam C Powell, Cayetana Calderon-Smith

College of Population Health Faculty Papers

BACKGROUND: Cyberchondria, a combination of the words "cyber" and "hypochondriasis," is a condition that is receiving increasing attention from clinicians and researchers globally. Researchers are currently using multiple instruments to quantify it. Furthermore, the instruments have been translated into multiple languages.

OBJECTIVE: This study aimed to examine the extent to which researchers are measuring cyberchondria using the 33-item Cyberchondria Severity Scale (CSS) and its 12-item abbreviated version, the CSS-12. It also examined the relative use of cyberchondria instruments in different languages.

METHODS: PubMed and PsycInfo were searched for articles published between May 1, 2019, and December 31, 2024, featuring the …

Stakeholder Perspectives On Humanistic Implementation Of Computer Perception In Health Care: Qualitative Study, Kristin M Kostick-Quenet, Meghan E Hurley, Syed Ayaz, John D Herrington, Casey J Zampella, Julia Parish-Morris, Birkan Tunç, Gabriel Lázaro-Muñoz, Jennifer Blumenthal-Barby, Eric A Storch

Center for Medical Ethics and Health Policy Staff Publications

Background: Computer perception (CP) technologies-including digital phenotyping, affective computing, and related passive sensing approaches-offer unprecedented opportunities to personalize health care, especially mental health care, yet they also provoke concerns about privacy, bias, and the erosion of empathic, relationship-centered practice. At present, it remains elusive what stakeholders who design, deploy, and experience these tools in real-world settings perceive as the risks and benefits of CP technologies.

Objective: This study aims to explore key stakeholder perspectives on the potential benefits, risks, and concerns associated with integrating CP technologies into patient care. A better understanding of these concerns is crucial for responding to …

Towards A Unified Gating Scheme For The Cnbd Ion Channel Family, Jenna L Lin, Baron Chanda

2020-Current year OA Pubs

Cyclic nucleotide-binding domain (CNBD) channels are critical components of numerous bioelectrical processes, including cardiac pacemaking, neuronal signaling, phototransduction in the eye, and stomatal regulation in plants. While members of this channel family share a conserved overall structure, they exhibit striking differences in voltage sensitivity. Hyperpolarization-activated cyclic nucleotide-gated channels are activated by membrane hyperpolarization, whereas ether-à-go-go channels open upon depolarization. Mutagenesis and chimeragenesis studies have revealed that some mutants display bipolar gating behavior-remaining closed at intermediate membrane potentials but capable of opening in response to both hyperpolarization and depolarization. Remarkably, in certain cases, just a few mutations are sufficient to reverse …

Reported Safety Practices Of Publicly Advertised Psychedelic Retreats, Amy L Mcguire, Logan Neitzke-Spruill, Jill O Robinson, Caroline S Beit, Nikita Singh, David S Mathai, Lynnette A Averill

Center for Medical Ethics and Health Policy Staff Publications

Importance: The availability of psychedelic retreats has grown to meet the demand for access to these substances. Despite centuries of use among Indigenous communities, psychedelics can pose serious risks for some users.

Objective: To determine safety precautions that retreat organizations that offer psychedelic substances currently use.

Design, setting, and participants: This qualitative study included structured interviews conducted by phone or email with representatives from 49 organizations publicly advertising psychedelic retreat offerings from July to October 2023. Organizations were eligible if they marketed their services in English, offered at least 1 psychedelic substance, and made contact information available online. Organizations were …

Investigation Of A Global Mouse Methylome Atlas Reveals Subtype-Specific Copy Number Alterations In Pediatric Cancer Models., Melanie Schoof, Tuyu Zheng, Martin Sill, Roland Imle, Alessia Cais, Lea Altendorf, Alicia Fürst, Nina Hofmann, Kati Ernst, Dominik Vonficht, Kenneth Chun-Ho Chan, Tim Holland-Letz, Andreas Postlmayr, Ryo Shiraishi, Wanchen Wang, Alaide Morcavallo, Michael Spohn, Carolin Göbel, Judith Niesen, Levke-Sophie Peter, Franck Bourdeaut, Zhi-Yan Han, Yanxin Pei, Najiba Murad, Fredrik J. Swartling, Jessica Taylor, Monika Yadav, Garrett R. Gibson, Richard J. Gilbertson, Matthias Dottermusch, Rajanya Roy, Kornelius Kerl, Rainer Glass, Jiying Cheng, Martin A. Horstmann, Gerrit Wolters-Eisfeld, Haotian Zhao, Dominik Sturm, Viveka Nand Yadav, Louis Chesler, Simon Haas, William A. Weiss, Paul A. Northcott, Lena M. Kutscher, Ana Guerreiro Stucklin, Olivier Ayrault, Julia E. Neumann, Daisuke Kawauchi, David T W Jones, Kristian Pajtler, Ana Banito, Stefan M. Pfister, Ulrich Schüller, Marc Zuckermann

Manuscripts, Articles, Book Chapters and Other Papers

Copy number alterations (CNAs) are hallmarks of cancer, yet investigation of their oncogenic role has been hindered by technical limitations and missing model systems. Here we generated a genome-wide DNA methylation and CNA atlas of 106 genetic mouse models across 31 pediatric tumor types, including 18 new models for pediatric glioma. We demonstrated their epigenetic resemblance to human disease counterparts and identified entity-specific patterns of immune infiltration. We discovered that mouse tumors harbor highly recurrent CNA signatures that occur distinctly based on the tumor subgroup and driving oncogene and showed that these CNAs share syntenic regions with the matching human …

Lived Experiences Of Men Working In Both White-Collar And Blue-Collar Jobs: A Systematic Literature Review, Pius Omolewa, John Bressan, Nassrine Noureddine, Adekemi Adedipe

All Faculty Scholarship

The objective of this systematic review was to identify, appraise, and meta-synthesize qualitative evidence regarding the experiences and perceptions of men in both white-collar and blue-collar jobs. The systematic review of qualitative studies searches was conducted in MEDLINE, Scopus, EBSCohost, ProQuest, CINAHL, and PsycINFO of articles published between 2005 and 2025 to ensure information is current and relevant to modern practices and to analyze trends and the evolution of a research field over a significant period of 20 years. In total, 2,074 articles were identified, and after screening using the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines, …

African Domestic Poultry Genetic Resources, Diversity, And Unique Features, Tadelle Dessie, Christian K. Tiambo, Liveness J. Banda, Raman Akinyanju Lawal, Sheila C. Ommeh, Timothy Gondwe, Esatu Wondmeneh, Matthew A. Adeleke, Olivier Hanotte

Faculty Research 2026

This chapter provides a detailed account of African domestic poultry genetic resources, their diversity, and unique features. It aims to bring together information to provide a comprehensive picture of the topic. Section 7.1 introduces African poultry genetic resources, their importance, and previous interventions conducted to better utilize this important resource. Section 7.2 deals with the origin of poultry genetic resources and their dispersal into Africa. The introduction of domesticated chickens into Africa is not well documented. Although indigenous birds have several adaptive traits and associated genes that are important in the tropics, the real value of indigenous chicken breeds is …

Stim1-Dependent Treg Dysfunction Promotes Cardiometabolic Hfpef: Insights From Patients And Animal Studies, Balaji Srinivas, Alluri Kiran, Hongmei Peng, Jiang Xu, Paula Fortuno, Jennifer May, Ismail El Moudden, Nour-Eddine Rhaleb, John M. Herre, Raymond L. Benza, Khalid Matrougui

Department of Biomedical and Translational Sciences Faculty Publications

Background

Heart failure with preserved ejection fraction (HFpEF) arises from chronic cardiometabolic and vascular stress and is increasingly recognized as an inflammatory syndrome with immune dysregulation. Regulatory T cells (Tregs) are critical modulators of cardiovascular inflammation, yet the mechanisms driving Treg dysfunction in HFpEF remain poorly defined. stromal interaction molecule 1 (STIM1)-dependent calcium signaling is a key stress-responsive pathway in immune cells; however, its role in Treg maladaptation during HFpEF remains unknown.

Methods

Circulating Tregs from patients with and without HFpEF were analyzed for abundance, STIM1 expression, and stress-associated signaling pathways. To establish causality, mice with Treg-specific deletion of STIM1 …

Cxcr6+ Natural Killer Cell Immunotherapy Preserves Cd4+ T Helper Cells In Humanized Mice, Naushad Khan, Kayla Frank, Silke Paust

Faculty Research 2026

Human immunodeficiency virus (HIV) persists despite antiretroviral therapy because long-lived viral reservoirs are not eliminated, and ongoing or rebound infection contributes to progressive loss of CD4⁺ T helper cells. Natural killer (NK) cells can acquire adaptive, antigen-experienced functions, including recall responses to HIV envelope protein, suggesting that defined NK-cell subsets may be therapeutically useful against HIV. Because HIV-responsive adaptive NK-cell activity is enriched among CXC chemokine receptor 6-positive (CXCR6⁺) NK cells, we tested whether CXCR6⁺ NK cells provide enhanced antiviral activity and CD4⁺ T-cell protection compared with CXCR6⁻ NK cells. In co-cultures with HIV-infected …

Can Angiotensin Ii Affect The Inflammatory Response Of Human Dental Pulp Cells In Vitro?, Bella Luna Colombini-Ishikiriama, Thiago José Dionisio, Thais Francini Garbieri, Rafaela Alves Da Silva, Sandra Helena Penha Oliveira, Vanessa Soares Lara, Andrew S Greene, Carlos Ferreira Dos Santos

Faculty Research 2026

OBJECTIVE: This study aimed to evaluate the capacity of fibroblasts from permanent and deciduous dental pulp to express inflammatory mediators when exposed to bacterial and inflammatory antigens. It also sought to assess the presence of components of the renin-angiotensin system (RAS) and the potential modulatory role of ANG-II in this response.

METHODOLOGY: Fibroblasts were cultured from the pulp of permanent and deciduous teeth obtained from three adult and four pediatric donors with informed consent. Cells were stimulated with Porphyromonas gingivalis and Escherichia coli lipopolysaccharides (LPS) either alone or in combination with ANG-II and, in some cases, with IL-1β. Gene expression …

Biomechanical Integrity Of The Female Pelvic Floor: A Comparison Of Military And Civilian Women, Vladimir Egorov, Peter Takacs, Vincent Lucente, Heather Van Raalte, Joy A. Greer, Noune Sarvazyan

Department of Obstetrics & Gynecology Faculty Publications

Introduction

The health of the pelvic floor depends on the integrity of its muscles, connective tissue, ligaments, and their innervation. The female pelvic floor may be more vulnerable to repetitive heavy loads in a military environment than the male pelvic floor because of anatomical and physiological differences. The study aim was to identify and explore possible differences in the female pelvic floor conditions between active military and civilian women with similar demographics.To identify and explore possible differences in the conditions of the female pelvic floor between active military women and civilian women with similar demographics.

Materials and Methods

Military active …

Dampened Social Motivation In Dysphoria: The Role Of Negative Social Expectancies And Internal Causal Attribution Style, Julie L Ji, Nilly Mor, Colin Macleod

School of Psychology

Dysphoria is associated with dampening of social interaction intention, but the cognitive mechanisms that underpin this relationship are under-investigated. This study tested the hypothesis that heightened negative social expectancies mediate the association between dysphoria and dampened social motivation. Additionally, it tested the hypothesis that the association between dysphoria and negative social expectancies is mediated by an attribution style bias that attributes negative, but not positive, outcomes to internal causes. University students (N = 271) with varied levels of dysphoria read vignettes describing hypothetical situations where they initiate a social interaction that results in positive or negative outcomes. Participants rated their …

Considerations For The Analysis Of Urinary Environmental Chemical Concentrations During Pregnancy, Danielle R. Stevens, Kaleigh Hinton, Katie M. O'Brien, Jessie P. Buckley, Barrett M. Welch, Jason A. Watts, Antonia M. Calafat, Julianne C. Botelho, Elena Sinkovskaya, Ann Przybylska, George Saade, Alfred Abuhamad, Kelly K. Ferguson

Department of Obstetrics & Gynecology Faculty Publications

Background:

Pregnancy physiology may impact indicators of hydration, affecting exposure assessment in gestational studies with urinary chemical biomarkers.

Methods:

We aimed to characterize hydration and demonstrate the impact of different methods for standardizing urinary chemical biomarker concentrations on exposure descriptives in the Human Placenta and Phthalates Study (n = 303, 2017-2020), a prospective pregnancy cohort with eight study visits between 12 and 38 weeks of gestation. We assessed trajectories and predictors of hydration using urine flow rate (UFR) and specific gravity (SG). Likewise, we examined trajectories and predictors of mono-n-butyl phthalate (MBP), for which concentrations were unstandardized or standardized via …

Examining Motivators And Barriers To Meditation Practice Among Individuals With Spinal Cord Injury: Insights From A Survey Study, Radha Korupolu, Chelsea G Ratcliff, Ariana Andampour, Susan Robinson-Whelen, Shrasti Lohiya, Audrey S Cohen, Christine Bakos-Block, Tiffany Champagne-Langabeer

Faculty, Staff and Student Publications

Context: Meditation and mindfulness practices offer promising non-pharmacological alternatives for individuals with spinal cord injury (SCI) to improve their health and well-being, but integrating such practices into daily routines can be challenging.

Objectives: This survey study aims to identify motivators and barriers to engagement with meditation and mindfulness interventions among individuals with SCI.

Methods: A cross-sectional survey was conducted among adults with SCI (N = 94) from a single large acute rehabilitation center in the United States.

Results: Results from the survey showed a strong interest in meditation among individuals with SCI, with nearly half reporting current engagement in meditation …

An Ensemble Classifier For Ordinal Outcomes In High-Dimensional Genomics Data, Heranga K. Rathnasekara, Sinjini Sikdar

Mathematics & Statistics Faculty Publications

Analysis of genomics data for predicting disease outcomes is a fast-growing field in medical research. There often exist categorical, specifically, ordinal outcomes that need to be predicted based on genomic profiles. This has led to recent development of some high-dimensional ordinal classification methods that can address the large dimensionality of the genomic covariate set. These high-dimensional ordinal models tend to vary widely in their performance depending on the data they are applied to and the evaluation criteria used. In this article, we outline an ensemble ordinal classifier that integrates different ordinal modeling approaches through bootstrap-based model evaluation, multi-metric performance assessment, …

Blood Flow Regulates Metabolism In Hematopoietic Development, Pamela L Wenzel

Faculty, Staff and Student Publications

Blood flow modifies oxygen availability and biomechanical forces within the vasculature of the embryo as the hematopoietic system develops. The aorta-gonad-mesonephros (AGM) envelops the largest artery in the body and is a critical site for the emergence of hematopoietic stem cells (HSCs). Herein, I discuss the role of hypoxia-inducible factors (HIFs) and force as determinants of metabolism and fate determination. To address the effects of blood flow on hematopoietic development, I employ mouse embryo models and biomimetic culture. Real-time cell metabolic analyses show that oxygen consumption rates (OCR) and extracellular acidification rates (ECAR) are altered by flow in cultures of …

Astrocytic Sox9 Overexpression In Alzheimer’S Disease Mouse Models Promotes Aβ Plaque Phagocytosis And Preserves Cognitive Function, Dong-Joo Choi, Sanjana Murali, Wookbong Kwon, Junsung Woo, Eun-Ah Christine Song, Yeunjung Ko, Debosmita Sardar, Brittney Lozzi, Yi-Ting Cheng, Michael R Williamson, Teng-Wei Huang, Kaitlyn Sanchez, Joanna Jankowsky, Benjamin Deneen

Faculty, Staff and Students Publications

Astrocytes play essential roles in the brain, and their dysfunction is associated with nearly every form of neurological disease. Despite their ubiquity, knowledge of how astrocytes contribute to disease pathogenesis is incomplete; accordingly, harnessing their biology toward therapeutics remains a major challenge. Here we show that the transcription factor Sox9 plays a context-specific role in maintaining astrocyte function and circuit activity in the aging hippocampus and Alzheimer's disease (AD) models. We found that Sox9 overexpression in astrocytes in AD models clears existing amyloid beta (Aβ) plaques and preserves cognitive function. Mechanistically, Sox9 promotes the phagocytosis of Aβ plaques by astrocytes …

Recent Technological Advances In Monitoring And Neuromodulation Of Non-Malignant And Neurogenic Bladder Conditions, Chang Liu, Yifan Wang, Mario Romero-Ortega, Argyrios Stampas, Yingchun Zhang, Philippe Zimmern, Zhengwei Li

Faculty, Staff and Student Publications

Neurogenic bladder and lower urinary tract (LUT) dysfunctions encompass a wide variety of urinary disorders resulting from nervous system impairments. Unfortunately, conventional treatments are still limited and can have significant complication rates, especially when stent implantations or other surgical procedures are involved. Therefore, there is a critical need to develop novel therapeutic strategies and pharmacological approaches to address these challenging urological conditions. Recent technological advances offer promising solutions to overcome some of these challenges faced by patients with bladder and LUT dysfunction. This review summarizes recent progress in advanced urotechnologies, focusing on bladder monitoring and neuromodulation approaches, advanced medical instruments …

Once-Weekly Navepegritide In Children With Achondroplasia: The Approach Randomized Clinical Trial, Ravi Savarirayan, Ciara Mcdonnell, Carlos A Bacino, Daniel G Hoernschemeyer, Janet M Legare, M Jennifer Abuzzahab, Paul L Hofman, Philippe M Campeau, Josep Maria De Bergua Domingo, Leanne M Ward, Kevin Smit, Alden Smith, Meng Mao, Michael S Ominsky, Lærke C Freiberg, Aimee D Shu, Hanne B Hove

Faculty, Staff and Students Publications

Importance: Historically considered a skeletal dysplasia characterized by disproportionate short stature, achondroplasia is a condition with multisystemic effects due to the widespread expression of the fibroblast growth factor receptor 3 variant throughout the body, impacting muscle, neurological function, cardiorespiratory health, and health-related quality of life.

Objective: To evaluate the efficacy, safety, and tolerability of once-weekly navepegritide, an investigational prodrug of C-type natriuretic peptide, while assessing benefits beyond growth that may have important implications for complications and health-related quality of life in children with achondroplasia.

Design, setting, and participants: Enrollment for this pivotal phase 2b, randomized, double-blind, placebo-controlled trial (APPROACH) was …

Prevalence Of Substance Use In Northwest Syria: A Cross-Sectional Study, Isabel Draper, Dania Albaba, Heba Mesbah, Huda Taktak, Nidhal Saadoun, Mohammad Alhusein, Elharit Alissa, Anas Barbour, Zaher Sahloul, Nidal Moukaddam

Faculty, Staff and Students Publications

Objectives: Syria has undergone significant socio-political turmoil since 2011 as internal conflict displaced portions of the population, destroyed infrastructure, and destabilized the economy. In the context of multilevel healthcare system disruptions, there have been increasing reports of substance use. This study seeks to evaluate patterns of substance use in Northwestern Syria.

Methods: Trained staff administered questionnaires to community members in Azaz, Syria. Questions focused on the substance use prevalence, societal and public health impacts, and perspectives on treatment availability.

Results: 480 individuals were surveyed (80·88% male, 19·12 % female; 43·39% were 18-25 yrs, 11·5% reported personal substance use). H-booz (amphetamines), …

Pd-L1-Centric Whole Blood-Based Immune Signature Profiles Of Tuberculosis Patients During Therapy, Johanna Eggeling, Martina Sester, Christoph Lange, Jan Heyckendorf, Barbara Kalsdorf, Anna M Mandalakas, Andrew R Dinardo, David Lewinsohn, Dagmar Schaub, Tina Schmidt, Eva Tolosa, Maja Reimann, Patricia M Sánchez Carballo

Faculty, Staff and Students Publications

This prospective study investigated whole blood-based immune cell biomarkers for pulmonary tuberculosis (TB) immunoprofiling. Blood samples from 34 healthy controls and 51 tuberculosis patients were analyzed at three timepoints: Prior to therapy (T0), after 14 days of therapy (T1), and at the end of treatment (Te). Using multiparameter flow cytometry, 386 immune cell populations were analyzed. Predictive models were developed using two machine learning algorithms. A TB5LF change score, which was based on five cell populations, effectively distinguished tuberculosis patients from controls (AUC = 0.89) and tuberculosis patients before and at the end of treatment (AUC = 0.92). Similarly, the …

Anything But Endo: Diagnostic Buck-Passing In Endometriosis Diagnosis, Rita Dexter, Megan Kitts, Heather Welty, Melanie Jeske

Center for Medical Ethics and Health Policy Staff Publications

People living with endometriosis, a disease in which tissue similar to the lining of the uterus grows elsewhere in the body, often experience prolonged diagnostic journeys because of symptom variability, normalisation of period pain and other symptoms, and lack of awareness of the condition. In this article, we analyse the endometriosis diagnostic journey through the lens of epistemic injustice. Drawing on in-depth interviews with 52 people living with endometriosis in the United States, we introduce the concept of diagnostic buck-passing to characterise the phenomenon wherein individuals who seek treatment for their symptoms end up stuck in a cycle of seeing …

Pancreatic Cancer Detection Consortium Biomarker Bakeoff: A Phase Ii Blinded Biomarker Validation And Panel Discovery Study, Ann L. Oberg, William R. Bamlet, Grant Izmirlian, Seetharaman Balasenthil, Surinder K. Batra, Masataka Hayashi, Daniel S. Herman, Michael A. Hollingsworth, Maneesh Jain, Ann M. Killary, Brianna M. Krusen, Suyu Liu, Shounak Majumder, Gopalakrishnan Natarajan, Subrata Sen, Lynette M. Smith, Sudhir Srivastava, Brian M. Wolpin, Kenneth S. Zaret, Michael G. Goggins

Journal Articles: Biochemistry & Molecular Biology

PURPOSE: The Pancreatic Cancer Detection Consortium (PCDC) performed a blinded Early Detection Research Network-defined phase II biomarker bakeoff study of blood-based biomarker panels. The aims were to evaluate panel performance, to compare the panels' performance with that of cancer antigen 19-9 (CA19-9) alone, and to evaluate the performance of new combinations of the individual biomarkers.

EXPERIMENTAL DESIGN: Ten biomarkers representing eight biomarker panels and CA19-9 were evaluated using plasma, serum, and germline DNA from 140 stage I to IV pancreatic ductal adenocarcinoma (PDAC) cases and 140 controls from three tertiary care institutions, with controls frequency matched to cases on age …

Paneugenesis: A Regenerative Systems Hypothesis For Advancing Health Promotion, Craig M. Becker, Leslie Hoglund, Beth Chaney, Joseph G. L. Lee, Michael Stellefson, Alex Davis

Epidemiology, Biostatistics, & Environmental Health Faculty Publications

Despite major advances in health promotion science, dominant approaches remain largely prevention-and risk-reduction-oriented. The prevailing orientation creates a substantial opportunity to advance generative, system-design strategies that intentionally produce well-being rather than merely prevent disease. This article proposes paneugenesis as a regenerative systems framework and a testable theoretical model for the intentional creation of net-positive outcomes, thereby extending health promotion beyond its traditional pathogenic emphasis. Paneugenesis integrates systems science, salutogenesis, behavioral science, complexity theory, and quality management principles into a unified four-function process: operationalizing idealized outcomes, identifying key precursors, optimizing processes, and continually plotting progress through feedback mechanisms. The central hypothesis …

Engineering Mutation Clones In Mammalian Cells With Crispr/Cas9, Zijun Huo, Jian Tu, Rachel Shoemaker, Dung-Fang Lee, Ruiying Zhao

Faculty, Staff and Student Publications

CRISPR, Clustered Regularly Interspaced Short Palindromic Repeat, as a powerful genome engineering system, has been widely accepted and employed in gene editing of a vast range of cell types. Compared to zinc finger nucleases (ZFNs) or transcription activator-like effector nucleases (TALENs), CRISPR shows a less complicated process and higher efficiency. With the development of different CRISPR systems, it can be used not only to knock out a gene but also to make precise modifications, activate or repress target genes with epigenetic modifications, and even for genome wide screening. Here we will describe the procedure of generating a stable cell line …