Medicine and Health Sciences Commons^™

Lysosomal Storage Disorders In Nonimmune Hydrops Fetalis Diagnosed By Exome Sequencing, Mona M Makhamreh, Kavya Shivashankar, Stephanie M. Rice, Sascha Wodoslawsky, Christina Grant, Rodney Mclaren, Seth I. Berger, Huda B. Al-Kouatly

Department of Obstetrics and Gynecology Faculty Papers

Lysosomal storage disorders (LSD) are a group of inherited metabolic diseases that contribute to nonimmune hydrops fetalis (NIHF). Our objective was to review the pooled exome sequencing (ES) diagnostic yield of LSD in NIHF cases. We expanded our previous meta-analysis and updated our search strategy of prenatal ES studies from 1/1/2000 to 8/1/2024. Cases with LSD gene variants were reviewed. Variants were curated based on the current American College of Medical Genetics and Genomics and ClinGen guidelines. Forty-one ES studies met our inclusion criteria. A total of 207/558 NIHF cases yielded a positive diagnosis by ES. LSD cases represented 27/558 …

The State Of School-Based Ot Practice Regarding Concussion-Related Vision Disorders, Kimberly Meany, Emily Behnke, Ariks Lanctot, Audrey Maynard, Samuel Szarowicz

Masters Projects

Purpose: More than 830,000 pediatric patients yearly are affected by a concussion (Rosenbaum, 2020). Occupational therapists can support a child's performance in the classroom. Yet, there is a lack of knowledge regarding the current practice of occupational therapists treating those with a concussion in the school setting. Therefore, the purpose of this study is to understand school-based occupational therapy practice regarding concussion-related vision disorders.

Design: Cross-sectional survey. Participants were licensed OTs practicing in the US, working in a school-based or related pediatric setting, with more than two years of pediatric experience, holding at least a bachelor’s degree from an accredited …

Blunted Cd40-Responsive Enhancer Activation In Crebbp-Mutant Lymphomas Can Be Restored By Enforced Cd4 T-Cell Engagement, Haopeng Yang, Wenchao Zhang, Vida Ravanmehr, Guiling Cui, Kevin Bowman, Ruidong Chen, Jared M Henderson, Shyanne Lockman, Estela Rojas, Ashley Wilson, Sydney Parsons, Ariel Mechaly, Leslie Regad, Ahmed Haouz, Christopher R Flowers, Sattva Neelapu, Loretta Nastoupil, R Eric Davis, Qing Deng, Fernando Rodrigues-Lima, Michael R Green

Faculty, Staff and Student Publications

The CREBBP lysine acetyltransferase (KAT) is frequently mutated in follicular lymphoma and diffuse large B-cell lymphoma and has been studied using gene knockout in murine and human cells. However, most CREBBP mutations encode amino acid substitutions within the catalytic KAT domain (CREBBP KAT-PM) that retain an inactive protein and have not been extensively characterized. Using CRISPR gene editing and extensive epigenomic characterization of lymphoma cell lines, we found that CREBBP KAT-PM lead to unloading of CREBBP from chromatin, loss of enhancer acetylation, and prevention of EP300 compensation. These enhancers were enriched for those that are dynamically loaded by CREBBP in …

The Impact Of Genetic Ancestry On Survival Outcomes In Pediatric Rhabdomyosarcoma: A Report From The Children’S Oncology Group, Ekene A Onwuka, Christina L Magyar, Bailey A Martin-Giacalone, Michael E Scheurer, Deborah A Marquez-Do, Mark Zobeck, Elizabeth G Atkinson, Erin R Rudzinski, Michael A Arnold, Donald A Barkauskas, David Hall, Javed Khan, Jack F Shern, Paul Scheet, Brian Crompton, Corinne M Linardic, Douglas S Hawkins, Rajkumar Venkatramani, Lisa Mirabello, Chad D Huff, Melissa A Richard, Philip J Lupo

Faculty, Staff and Student Publications

Emerging evidence suggests genetic ancestry may influence childhood cancer outcomes, but its impact on pediatric rhabdomyosarcoma (RMS) is unknown. We explored genetic ancestry's impact on survival among children with RMS. This multi-center observational cohort study is a secondary analysis of previously collected biobanking, genomic, and clinical data. The study included 920 individuals with newly diagnosed RMS under 40 years of age enrolled from 2005 to 2017 under the COG soft tissue sarcoma biobanking protocol D9902. The primary endpoints were (1) event-free survival (EFS), defined as the time from study enrollment to tumor recurrence/progression, secondary malignancy, or death from any cause; …

Prognostic Value Of Lipoprotein(A) For Cardiovascular Events After Lower Limb Revascularization In Diabetic Patients With Chronic Limb-Threatening Ischemia, Federico Biscetti, Maria Margherita Rando, Maria Anna Nicolazzi, Flavia Angelini, Roberto Iezzi, Luis H. Eraso, Paul J. Dimuzio, Dario Pitocco, Massimo Massetti, Antonio Gasbarrini, Andrea Flex

Department of Surgery Faculty Papers

BACKGROUND: Chronic limb-threatening ischemia (CLTI) presents a major clinical challenge in patients with Type 2 Diabetes Mellitus (T2DM), requiring lower extremity revascularization (LER) to mitigate adverse cardiovascular and limb outcomes. Lipoprotein(a) (Lp(a)) has been implicated in cardiovascular risk, but its role in patients with T2DM and CLTI undergoing revascularization remains unclear. Thus, this study aimed to investigate the prognostic value of Lp(a) levels in diabetic CLTI patients for major adverse cardiovascular events (MACE), major adverse limb events (MALE), or both after LER.

METHODS: In this prospective cohort study of 158 individuals with T2DM and CLTI undergoing LER, baseline clinical data …

Networked Behaviors Associated With A Large-Scale Secure Messaging Network: Cross-Sectional Secondary Data Analysis, Laura Rosa Baratta, Linlin Xia, Daphne Lew, Elise Eiden, Y Jasmine Wu, Noshir Contractor, Bruce L Lambert, Sunny S Lou, Thomas Kannampallil

2020-Current year OA Pubs

BACKGROUND: Communication among health care professionals is essential for effective clinical care. Asynchronous text-based clinician communication-secure messaging-is rapidly becoming the preferred mode of communication. The use of secure messaging platforms across health care institutions creates large-scale communication networks that can be used to characterize how interaction structures affect the behaviors and outcomes of network members. However, the understanding of the structure and interactions within these networks is relatively limited.

OBJECTIVE: This study investigates the characteristics of a large-scale secure messaging network and its association with health care professional messaging behaviors.

METHODS: Data on electronic health record-integrated secure messaging use from …

Hybrid Reference Genome Assemblies For Leishmania (Viannia) Braziliensis, A Primary Agent Of Mucocutaneous Leishmaniasis, James A Cotton, Frederik Van Den Broeck, Peter J Myler, Natalia S Akopyants, Matthew Berriman, Stephen M Beverley

2020-Current year OA Pubs

We report high-quality long-read genome assemblies and annotations for two widely studied reference strains of

Innovations In Tavr: The Latest In Device Technology, Omar Sheikh, Errol Moras, Lorraine Mascarenhas, Sahar Samimi, Waleed T Kayani, Syed Zaid

Faculty, Staff and Students Publications

Aortic stenosis is the most prevalent valvular disease globally. Transcatheter aortic valve replacement (TAVR) has become a well-established treatment for aortic stenosis, offering outcomes comparable to surgical aortic valve replacement (SAVR). Its use has expanded to include younger, lower-risk patients and those with more complex anatomies. Recent advancements in TAVR include the increased adoption of transfemoral access, prosthesis designs optimized for challenging anatomies, enhanced delivery systems with repositioning capabilities, and outer skirts to minimize paravalvular leaks. Despite these innovations, several challenges remain. This review highlights recent updates in transcatheter heart valve (THV) systems, leaflet modification devices, and the current limitations …

Advanced Minimal Residual Disease Detection Using A Novel Circulating Tumor Dna Assay: A Report Of Two Cases, Georges Azzi, Thomas P Slavin, Jesus Izaguirre-Carbonell, Hillary S Sloane, Daniel L Edelstein, Cynthia X. Ma

2020-Current year OA Pubs

INTRODUCTION: Tumor-informed minimal residual disease (MRD) monitoring assays based on plasma circulating tumor DNA (ctDNA) are increasingly integrated into the clinical management of patients with cancer. In the post-surgical curative intent setting and as an adjunct to radiographic imaging for response assessment and surveillance, timely identification of MRD may better guide therapeutic decision-making. The increasing clinical adoption of MRD testing, supported by a growing body of evidence demonstrating its potential utility at critical decision points across diverse tumor histology, has brought attention to the variability in the analytical performance of available ctDNA assays. This variability is becoming increasingly appreciated as …

Braf V600e-Positive Mononuclear Cells In Blood At Diagnosis Portend Treatment Failure And Neurodegeneration In Pediatric Lch, Howard Lin, Akanksha Batajoo, Erin Peckham-Gregory, Daniel Zinn, Olive S Eckstein, Nader Kim El-Mallawany, Nitya Gulati, Zachary D Prudowsky, Brooks Scull, Jessica Velazquez, Harshal Abhyankar, Stephen J Simko, Daria Vakula, Ryan Fleischmann, Vivekanudeep Karri, M John Hicks, Kevin E Fisher, Choladda V Curry, Angshumoy Roy, Deborah Schiff, Kenneth M Heym, Michael E Scheurer, D Williams Parsons, Miriam Merad, Tsz-Kwong Man, Kenneth L Mcclain, Jennifer Picarsic, Carl E Allen

Faculty, Staff and Students Publications

Langerhans cell histiocytosis (LCH) is a myeloid neoplastic disorder driven by mitogen-activated protein kinase (MAPK) activation in hematopoietic cells. Historically, LCH has been staged according to involvement of "risk organs" (bone marrow, liver, and spleen), based on risk of death. With improvements in supportive care and efficacy of MAPK pathway inhibitors, patients with LCH now rarely die. However, most patients with LCH with multisystem disease are not cured with current front-line chemotherapy, and treatment failure is associated with long-term morbidity, including LCH-associated neurodegeneration (LCH-ND). In this study, we evaluated the impact of extent of LCH at presentation, tumor genotype, and …

Global Diversity Of Soil-Transmitted Helminths Reveals Population-Biased Genetic Variation That Impacts Diagnostic Targets, Marina Papaiakovou, Andrea Waeschenbach, Olumide Ajibola, Sitara Sr Ajjampur, Roy M Anderson, Robin Bailey, Jade Benjamin-Chung, Maria Cambra-Pellejà, Nicolas R Caro, David Chaima, Rubén O Cimino, Piet Cools, Anélsio Cossa, Julia Dunn, Sean Galagan, Javier Gandasegui, Berta Grau-Pujol, Emma L Houlder, Moudachirou Ibikounlé, Timothy P Jenkins, Khumbo Kalua, Eyrun F Kjetland, Alejandro J Krolewiecki, Bruno Levecke, Adrian Jf Luty, Andrew S Macdonald, Inácio Mandomando, Malathi Manuel, Maria Martínez-Valladares, Rojelio Mejia, Zeleke Mekonnen, Augusto Messa, Harriet Mpairwe, Osvaldo Muchisse, Jose Muñoz, Pauline Mwinzi, Valdemiro Novela, Maurice R Odiere, Charfudin Sacoor, Judd L Walson, Steven A Williams, Stefan Witek-Mcmanus, D Timothy J Littlewood, Cinzia Cantacessi, Stephen R Doyle

Faculty, Staff and Students Publications

Soil-transmitted helminths (STHs) are intestinal parasites that affect over a billion people worldwide. STH control relies on microscopy-based diagnostics to monitor parasite prevalence and enable post-treatment surveillance; however, molecular diagnostics are rapidly being developed due to increased sensitivity, particularly in low-STH-prevalence settings. The genetic diversity of helminths and its potential impact on molecular diagnostics remain unclear. Using low-coverage genome sequencing, we assess the genetics of STHs within worm, faecal, and purified egg samples from 27 countries, identifying differences in the genetic connectivity and diversity of STH-positive samples across regions and cryptic diversity between closely related human- and pig-infective species. We …

Fireworks And Wood Combustion Impacts On Air Quality, Iris Keller

DePaul Discoveries

Fire is used as a land management tool to improve ecosystem health and to reduce wildfire risk by lowering tree and litter density. However, prescribed fire as a management practice has faced difficulties with public perception, because of increased awareness of air pollution. Understanding the way that prescribed burns impact air quality and how beneficial they are for ecosystems can help the public to recognize their necessity. This study measured particulate matter (PM) emissions from prescribed burns but also considered other PM sources: fireworks and bonfires. The measurements were conducted in Minnesota, Wisconsin, and the Chicagoland area in the summer …

Factors Motivating Clothing Choice: Environmental Impact Of T-Shirts, Lauren Hunt

DePaul Discoveries

Second only to oil, the fashion industry is one of the most pollutive industries globally. Due to the rise of fast fashion, this environmental issue is continually growing. The level of production has dramatically increased while quality of apparel has decreased, causing shorter garment lifespans. This research utilizes life cycle assessment to identify the environmental impacts of various textiles used in the production of t-shirts, including cotton, polyester, viscose, and elastane. The research scope focuses from material extraction through garment disposal. The life cycle assessment research is paired with a community survey to determine consumer behavioral patterns surrounding clothing consumption …

Environmental Justice And Soil Lead Contamination: Spatial Analysis Across Seven Community Areas, Arsene Lionel Apabaga

DePaul Discoveries

Pb is a pervasive metal with toxicity linked to numerous human health issues. Urban soil is a well-documented environmental sink for Pb, persisting as a legacy pollutant decades after the phaseout of leaded gasoline. This study measured, mapped, and analyzed the spatial distribution of total soil Pb concentrations across seven Chicago Community Areas (CCAs). The objectives were to: (1) assess the relationship between mean soil Pb concentration and mean Community Environmental Justice Index (CEJI) score per CCA, (2) determine the relationship between soil Pb levels and the percentage of industrial land use, and (3) quantify and compare the percentage of …

“Put Me In Coach!”: The Impact Of College Sport Team’S Mentorship In Chronically Ill And Disabled Children And Adolescents Adherence To Medical Regimen, Jameela Askira

DePaul Discoveries

The purpose of this study was to see if participation in TeamIMPACT, a program which matches ill children with college sports teams, aided chronically ill children and adolescents in adhering to their treatment regimen. This research is a part of a larger study where 25 child participants were interviewed via Zoom to answer questions regarding their time in the program, peer and family relationships, coping and resilience and other factors. The current study solely analyzed answers to questions regarding adherence to medical treatments. There were three measures: Child vs Parent Response, Treatment Regimen Components and Care Responsibility. Through a descriptive …

Frustrated, But Motivated: Insights From People With Me/Cfs, Aiden Rathmann, Suvetha Ravichandran, Leonard A. Jason

DePaul Discoveries

Qualitative research can amplify and clarify the perspectives of people with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). The current study analyzed responses to an open-ended survey question regarding the experiences of people with ME/CFS, especially in relation to ME/CFS case definitions. Although many people with ME/CFS are frustrated with their interactions with healthcare workers and researchers, people with this illness want these individuals to listen to them about their experiences with health care and research.

Using Synchrotron Wide-Angle X-Ray Scattering To Study Collagen Degradation In Second Metacarpal Bones, Zeel Sheth, Misha Romanov, Ruby Schwieger

DePaul Discoveries

The study examines female human second metacarpal (mc2) bones from early medieval cemetery at Greding, Germany, using high-energy Wide-Angle X-ray Scattering (WAXS) at beamline 1-ID of the Advanced Photon Source (APS) at Argonne National Laboratory. Rietveld refinement showed that carbonated apatite lattice parameters did not correlate with estimated age-at-death. For six of the mc2, widths of 00.2 and 00.4 diffraction peaks were substantially narrower than those of a modern (non-diagenetically altered) mc2 and of the other four ancient mc2. The peak width results are interpreted as indicating that four of the ten ancient mc2 retain substantial collagen and six of …

Modified 2-Quinolinones For Photocatalysis: The Fluorescence Quantum Yield (Φf) Of Novel 2-Quinolinone Derivatives, Reggina Moreno Trevino, Graham Griffin

DePaul Discoveries

The photophysical properties of novel 2-quinolinone derivatives were examined to evaluate their potential as photocatalysts using fluorescence and UV-Vis absorbance spectroscopy. The fluorescence quantum yields were determined via the relative comparative method, using target absorbance values at a specific wavelength to prepare solutions and comparing these measurements to the reference molecule carbostyril-124. Molar absorptivity values were also calculated to assess the light absorption properties for each compound. Among the derivatives, PAV-3 presented with the highest molar absorptivity and fluorescence quantum yield values (ε= 15297.3 M-1 cm-1, ΦF= 17.1%), while PAV-5 showed the lowest (ε= 4796.2 M-1 cm-1, ΦF= 2.3%). The …

Race/Ethnicity, Living Arrangements, And Access To Healthcare Among Older Adults With Alzheimer’S Disease In The United States: Multiple Systematic Reviews In Relation To Health Outcomes, Chela Reiss, Grace Vethacke

DePaul Discoveries

Alzheimer’s disease (AD) is a neurodegenerative condition primarily affecting older adults. It is a growing public health crisis that affects memory, thinking, and behavior. The number of adults aged 65 and older is projected to reach 98.2 million by 2060, leading to a continued rise in the prevalence of AD. Understanding the socioeconomic factors that influence health outcomes in patients with Alzheimer's Disease and Related Dementias (ADRD) is essential in addressing the disparities within patient care and quality of life. This systematic review examined three socioeconomic factors - race/ethnicity, living arrangements, and access to healthcare - and their related health …

Depaul Discoveries Volume 14 Cover Art, Reggina Moreno Trevino

DePaul Discoveries

No abstract provided.

Va Dent J July, August And September 2025

Virginia Dental Journal

The July–September 2025 issue of the Virginia Dental Journal highlights the continued dedication of the Virginia Dental Association (VDA) to advocacy, education, and professional development. In his message, President Dr. Justin Norbo reflects on his visits across the state, underscoring the importance of peer-to-peer engagement and unity within the tripartite (ADA, VDA, and local components) to protect and strengthen the profession. Editor Dr. Sarah Friend shares a candid narrative of workforce challenges, burnout, and mismanagement in dental practices, calling for proactive involvement in both private practice and organized dentistry to prevent decline. ADA Trustee Dr. James Mercer provides updates on …

Meet The Candidates

Virginia Dental Journal

No abstract provided.

A Meeting With Senator Tim Kaine On Virginia’S Dental Medicaid Benefit: Our Federal Representatives Want To Hear Our Stories, Laura Settles Dds

Virginia Dental Journal

Dr. Laura Settles participated in a meeting with Senator Tim Kaine to advocate for Virginia’s Medicaid dental benefits, sharing impactful patient stories and highlighting the importance of expanding the Medicaid provider network. She also organized Wythe County’s first Mission of Mercy (MOM) project, addressing critical dental care needs for underserved patients. Senator Kaine pledged to bring these stories to the Senate to protect Medicaid benefits and improve access to essential dental care.

Virginia Board Of Dentistry Meeting Notes June 13, 2025, Ursula Klostermyer Dds, Phd

Virginia Dental Journal

The Virginia Board of Dentistry (BOD) meeting on June 13, 2025, covered topics such as regulations for digital scan technicians, infection control training, licensure pathways for foreign dental graduates, and the Dentist and Dental Hygienist Compact. Updates were provided on workforce trends, disciplinary actions, and financial health. The meeting emphasized teledentistry protocols, dental assistant training models, and efforts to engage dental students and professionals.

Medical Billing For Dentists: Integrating A Different Tool To Boost Case Acceptance, Tontra Lowe Dds

Virginia Dental Journal

Medical billing for dentists is a powerful tool to boost case acceptance and make comprehensive care more affordable by accessing medical insurance benefits for oral treatments. Proper training and patient education about the oral-systemic link are essential for successful implementation, enabling practices to improve workflows, elevate patient care, and enhance overall health outcomes.

What We Learned: Key Takeaways From Delta Dental And Vda Discussions, Chris Pyle

Virginia Dental Journal

Delta Dental of Virginia collaborated with the Virginia Dental Association to address dentist grievances, leading to policy updates, improved processes, and enhanced support tools. Key changes include extended predetermination validity, revised claims rules, and better coverage for specific treatments. Feedback from dentists continues to shape improvements, supported by the VDA's Dental Insurance Grievance Tracker.

When “Just Sign Here” Is Too Good To Be True!, W. Scott Johnson Esquire

Virginia Dental Journal

Dentists are often pressured into purchasing expensive technology at conferences, with contracts governed by out-of-state laws and high-interest rates. These agreements may include personal guarantees, teaser rates, and restrictions on prepayment, leading to financial risks and potential legal consequences. Dentists are advised to carefully review terms and seek professional counsel before committing.

Tune In: Podcast Industry Continues To Grow, Michaela Mishoe

Virginia Dental Journal

The podcast industry continues to grow, offering diverse content for education and engagement. Health-related podcasts are particularly popular, with platforms like Spotify reporting significant increases in streams. The Virginia Dental Association launched The Fulcrum Podcast in 2025, addressing key dental topics and providing tips for being a successful podcast guest. Additionally, dental practice transitions and sales are highlighted, showcasing opportunities across Virginia and beyond.

Dental Detective Series - Word Search, Zaneta Hamlin Dds

Virginia Dental Journal

No abstract provided.

Through The Looking Glass, Sarah Glass

Virginia Dental Journal

The document discusses three oral pathology cases presented by a dental student, focusing on diagnoses of lateral periodontal cyst (LPC), odontogenic keratocyst (OKC), and unicystic ameloblastoma (UAM). It provides clinical, radiographic, and histopathological features, along with treatment options and recurrence rates for each condition.