Digital Commons Network^™

Neurofilament Light Chain (Nfl) As A Surrogate Outcome Measure For Gm2 Gangliosidoses., Kyriakos Martakis, Nicolas J. Abreu, Joshua J. Baker, Peter R. Baker Ii, Ian Billington, T Andrew Burrow, Mallory Factor, Taylor Fields, Cassandra Fields, Jennifer L. Gannon, Megan Grosso, Jorgji Kerthi, Marc C. Patterson, Brian J. Shayota, Michael Strupp, Lennard Strupp, Tatiana Bremova-Ert

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The GM2 gangliosidoses (GM2) are ultra-rare neurodegenerative disorders caused by deficient hexosaminidase A and/or B activity, leading to lysosomal GM2 ganglioside accumulation. Disease onset ranges from infancy to adulthood, with earlier onset associated with more rapid progression. Neurofilament light chain (NfL), a sensitive marker of axonal injury, has been extensively investigated as a biomarker for neurodegenerative disorders, including GM2.

METHODS: To evaluate its clinical utility as a biomarker for GM2, NfL was measured in patients with GM2 enrolled in a Phase 2b, multinational, rater-blinded study of levacetylleucine [NCT03759665], and in its open-label Extension Phase (EP).

RESULTS: Nineteen participants had …

Tau Seeds Induce Neurofibrillary Tangle Formation Across Brain Regions Via Individual-Specific Connectivity, Audrey J Weber, Bernard Ng, Kelsey M Greathouse, David A Bennett, Shinya Tasaki, Chris Gaiteri, Jeremy H Herskowitz

Faculty, Staff and Student Publications

The spread of tau pathology across the cerebral cortex is closely tied to cognitive decline in Alzheimer's disease (AD). To investigate mechanisms underlying tau spread, we measured bioactivity of tau seeds from inferior temporal gyrus (ITG) and superior frontal gyrus (SFG) synaptosomes in 128 individuals and demonstrated that tau seed bioactivity associates with tau phosphorylation, neurofibrillary tangles (NFTs), and cognitive impairment. Incorporating genotype data from the same individuals within a Mendelian randomization framework showed that tau seeds in ITG induce NFTs locally as well as drive tau seeds and NFTs in SFG. Integrating antemortem functional magnetic resonance imaging data from …

A Systematic Literature Review Of Cvid Reveals Pervasive Detrimental Noninfectious Manifestations, Robert B Lindell, Samir U Sayed, Jose S Campos Duran, Sydney A Sheetz, Apoorva Babu, Montana S Knight, Andrea A Mauracher, Ceire A Hay, Peyton E Conrey, Julie C Fitzgerald, Nadir Yehya, Stephen T Famularo, Teresa Arroyo, Richard Tustin, Hossein Fazelinia, Edward M Behrens, David T Teachey, Lisa R Forbes Satter, Alexandra F Freeman, Jenna Re Bergerson, Steven M Holland, Jennifer W Leiding, Scott L Weiss, Mark W Hall, Deanne M Taylor, Rui Feng, E John Wherry, Nuala J Meyer, Sarah E Henrickson

Faculty, Staff and Students Publications

BACKGROUND

Sepsis is a leading cause of morbidity and mortality in critically ill children, yet heterogeneous immune responses complicate the development of targeted therapies and the host immune factors driving sepsis pathobiology remain unclear.

METHODS

We integrated deep immune phenotyping, plasma proteomics, single-cell transcriptomics, and phosphoflow cytometry in a prospective cohort of 88 critically ill children to elucidate the mechanisms underlying immune heterogeneity.

RESULTS

Unsupervised clustering of plasma cytokines identified 3 immunologic subgroups, including a high-severity group (“Group C”) characterized by hypercytokinemia driven by IL-6 and IFN-γ. Group C exhibited distinct alterations in immune cell frequency and activation, with a …

Expert Opinion: Management Of Intraocular Inflammation And Vasculitis After Intravitreal Pegcetacoplan For Geographic Atrophy, Thomas Albini, Steven Yeh, Carl Regillo, Roy Schwartz, Philip Ferrone, Caroline Baumal, Charles Wykoff

Wills Eye Hospital Papers

BACKGROUND AND OBJECTIVE: This expert opinion review is intended to provide guidelines for diagnosis and management of intraocular inflammation (IOI) and vasculitis following pegcetacoplan.

PATIENTS AND METHODS: A case series of all post-marketing reports classified by experts as definite or suspected vasculitis over an 18-month period was assessed.

RESULTS: A total of 306,000 pegcetacoplan intravit real injections were given in the real world between March 1, 2023, and August 31, 2024. Twenty-four eyes from 22 patients (mean age 76 years, 59% female) with definite or suspected vasculitis were evaluated. Comorbidities included hypertension (55%), hypo thyroidism (27%), and recent COVID-19 infection …

Bridging Pediatric To Adult Care In Cystinosis: A Scoping Review Of Healthcare Transition Of Care Protocols And A Roadmap For Future Practice., Sanat Subhash, Nicholas Pantelakis, Kyle Backston, Ruhaan Bajpai, Amir Safadi, Brandon Petrovich, Bradley A. Warady, Maria Diaz-Gonzalez De Ferris, Rupesh Raina

Manuscripts, Articles, Book Chapters and Other Papers

Cystinosis is a rare lysosomal storage disorder that affects approximately 1 in 100,000 to 200,000 live births worldwide. Long-term graft success in cystinosis depends on cysteamine adherence and structured multidisciplinary transition, supported by protocols developed by both pediatric nephrologists and hospital organizations. This review explores institutional and regional care models, structured programs such as the RISE protocol and Got Transition's Six Core Elements, and major barriers including adult nephrology expertise, psychosocial stressors, and insurance coverage gaps. Additionally, we explore the impact of digital health tools for their role in supporting cysteamine adherence and maintaining continuity of care. Emerging technologies such …

Llm-As-A-Judge For Infection Prevention And Control And Antimicrobial Resistance Impact: Comparing Three Main Llms Vs. Human Experts' Assessment, Marcello Di Pumpo, Leonardo Villani, Maria Rosaria Gualano, Danilo Buonsenso, Francesca Raffaelli, Daniele Donà, Patrizia Laurenti, Vittorio Maio, Stefania Boccia, Walter Ricciardi

College of Population Health Faculty Papers

BACKGROUND: Large language models (LLMs) are increasingly used to generate health information, yet their reliability as evaluators remains unclear. This study investigated the feasibility of an LLM-as-a-judge methodology in the context of infection prevention and antimicrobial resistance (AMR), comparing automated ratings with human expert benchmarks.

METHODS: We performed a secondary analysis of an expert-annotated dataset of health messages. Three leading LLMs (ChatGPT, Claude, Gemini) independently evaluated the same messages using an adapted DISCERN tool across five domains: information reliability, quality, AMR impact, persuasiveness, and overall score. We utilized descriptive statistics, intra-rater reliability tests, and mixed-effects ordinal regression to analyze divergence …

Feasibility And Acceptability Of Automated Texts To Offer, Screen, And Enroll Patients In A Cancer Clinical Trial Financial Reimbursement Program: Mixed Methods Study, Ashley E Santaniello, Hena Patel, Sarah Milinski, Mohan Balachandran, Vivian Nguyen, E. Paul Wileyto, Robert H. Vonderheide, Dana Dornsife, Robert G. Johnson, Carmen E. Guerra

Student Papers, Posters & Projects

BACKGROUND: Out-of-pocket (OOP) costs pose a significant barrier to participating in cancer clinical trials (CCTs). Financial reimbursement programs (FRPs) that reduce the burden of OOP costs can support participation in CCTs if the information is readily available to participants at the time of enrollment. Prior studies have shown the importance and impact of FRPs, but despite improvements, significant barriers still remain.

OBJECTIVE: This study was designed to explore the feasibility and acceptability of automated texts designed to offer, screen, and enroll CCT participants in an FRP for OOP travel and lodging-related clinical trial costs.

METHODS: This study used a mixed …

Perceived Sensitivity Of Sensor-Based Digital Health Data: Qualitative Interview Study, Christine Deeney, Anika Sonig, Meghan E Hurley, Birkan Tunç, Eric A Storch, John D Herrington, Jennifer Blumenthal-Barby, Kristin Kostick-Quenet

Center for Medical Ethics and Health Policy Staff Publications

Background: Digital health tools are increasingly used in mental health care to passively collect patient data and analyze health status outside of clinical settings. While technologies such as digital phenotyping, affective computing, and computational behavioral analysis offer new insights into symptom manifestation in daily life, they generate large volumes of potentially sensitive data that raise significant data privacy concerns, requiring high levels of patient awareness and consent. Empirical research is lacking on stakeholder understandings toward the sensitivity of these data and expectations for data stewardship, perspectives that are critical for developing robust informed consent and data protection policies for digital …

Biophysical Insights Into A Cryptic Ligand Site In The Hydrophobic Core Of Human Pcna, Alexis N. Dispensa, Sharon N, Greenwood, Jason Yang, Daniel E. Logatto, James Fusco, E. Railey White, Roderic G. Eckenhoff, Zhiwei Liu, Brian P. Weiser

Department of Anesthesiology Faculty Papers

Proteins contain small pockets that form due to imperfections in residue packing or the rotational and conformational movement of amino acids. In this work, we used the fluorescent probe 1-aminoanthracene (AMA) to detect a small ligand pocket in the hydrophobic core of human proliferating cell nuclear antigen (PCNA), which is a critical protein for DNA replication and repair. Fluorescence measurements of AMA reported that the core of PCNA had a dielectric constant (ε) of 4, which was very apolar and similar to cyclohexane (ε = 2). Protein mutagenesis, photoaffinity labeling, and molecular dynamics simulations localized the binding site for AMA …

Tau Pathology In Epilepsy: Emerging Mechanisms And Translational Opportunities, Arjune Sen, Xin You Tai, Aristea Galanopoulou, Maria Thom, Eleonora Aronica, Lucy Vivash, Martin Hardmeier, Action Amos, Stephan Rueegg, Matthias Koepp, Yaroslav Winter, Christoph Helmstaedter, Jeffrey L Noebels, Hilal A Lashuel, Terence J O'Brien

Faculty, Staff and Students Publications

The onset of epilepsy in adulthood occurs most commonly after 55 years of age. Given the ageing global population, this disorder represents an increasing burden on healthcare and society. The bidirectional link between epilepsy and dementia is a focus of intense research with underlying tau pathology highlighted as a potential mechanistic link. In this review, we examine the evidence for tau-related neurodegenerative processes in epilepsy beginning with how changes in biochemical and structural properties of the tau protein can lead to abnormal phosphorylation and pathological aggregation. We consider the role of tau in seizure occurrence and cognitive difficulties in experimental …

Advancing Bioinformatics With Language Models: Components, Applications, And Perspectives, Jiajia Liu, Mengyuan Yang, Yankai Yu, Haixia Xu, Tiangang Wang, Kang Li, Xiaobo Zhou

Faculty, Staff and Student Publications

Large language models (LLMs) are deep learning-based artificial intelligence models that have achieved remarkable success in natural language processing. Typically composed of neural networks with billions of parameters, they are trained on massive unlabeled datasets using self-supervised or semi-supervised learning. Beyond language, LLMs hold immense potential for addressing complex bioinformatics challenges. This review provides a comprehensive overview of transformer-based model applications in genomics, transcriptomics, proteomics, drug discovery, and single-cell analysis. We discuss critical components, including tokenization strategies for diverse biological data, transformer architectures, attention mechanisms, and pretraining approaches. We also survey currently available foundation models and their downstream applications across …

Bi-Allelic Loss-Of-Function Variants In Tmem63b Cause Syndromic Surfactant Dysfunction Disorder, Sock Hoai Chan, Audra N Iness, Jill A Rosenfeld, Mir Reza Bekheirnia, Lindsay C Burrage, Matthew Hoi Kin Chau, Chaerish Eint Myet Chae Htoo, Eric C Kao, Shamika Ketkar, Wan Wan Lim, Xi Luo, Rifhan Mazlan, Elizabeth Mizerik, Kein Seong Mun, Kalyani R Patel, Lorraine Potocki, Christina K Rapp, Xavier Roca, Ana Saianda, Ignacio Iglesias-Serrano, Everlyn C Siew, Donald Yuhui Sim, David R Spielberg, Sok-Kun Tae, Jing Xian Teo, Julian Warfsmann, Fan Xia, Child-Eu Registry, Saumya S Jamuar, Ee Shien Tan, Matthias Griese, Weng Khong Lim, Meow-Keong Thong, Keren Machol

Faculty, Staff and Students Publications

Transmembrane protein 63B gene (TMEM63B) encodes a mechanosensitive ion channel expressed in alveolar type II epithelial cells, where it mediates stretch-induced surfactant secretion. While heterozygous gain-of-function variants in TMEM63B have been associated with developmental and epileptic encephalopathy, no human disorder has previously been linked to bi-allelic loss-of-function variants. Here, we report five individuals from four unrelated families with childhood interstitial lung disease and bi-allelic predicted loss-of-function variants in TMEM63B. Affected individuals presented with early-onset respiratory distress, chronic hypoxemia, and diffuse parenchymal lung abnormalities on chest imaging. One individual died in infancy, two underwent bilateral lung transplantation, and two require oxygen …

Relationship Between Sociodemographic Characteristics At Presentation And Outcomes Of Provoked Venous Thromboembolism In United States Children: A Secondary Analysis Of The Multinational Kids-Duration Of Therapy For Thrombosis Trial., Hope P. Wilson, Maua M. Alleyne, Sanjay Ahuja, Ernest Amankwah, Aisha Bruce, Shannon L. Carpenter, Fernando F. Corrales-Medina, Craig A. Mullen, Arun Panigrahi, Lakshmi Srivaths, Courtney D. Thornburg, Anupam Verma, Gary Woods, Neil A. Goldenberg, Madhvi Rajpurkar

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Venous thromboembolism (VTE) is associated with adverse long-term sequelae, including recurrence and development of chronic venous insufficiency following limb deep vein thrombosis (postthrombotic syndrome [PTS]). Adult VTE studies have demonstrated that lower socioeconomic status, Black race, and Latinx ethnicity are associated with an increased risk of recurrence. Clinical trial-derived pediatric VTE data are limited.

OBJECTIVES: The objective of this study was to assess whether clinical features of provoked VTE and outcomes vary across sociodemographic characteristics and proxies for social determinants of health among children enrolled in the Kids-duration of therapy for thrombosis trial.

METHODS: We conducted a secondary analysis …

Clinical Ethics Training Needs Among Pediatricians And Pediatric Residents In Ethiopia: Conference-Based Cross-Sectional Survey., Betelehem Kassa, Addishiwot Melesse, Eyob Kebede Etissa, Bitseat W. Haile, Atnafu Mekonnen Tekleab, Stephanie Kukora

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Pediatricians encounter ethically challenging cases in clinical practice throughout the world. In Ethiopia, ethically distressing pediatric cases are heightened by limited resources, lack of ethical frameworks to guide clinical care and withdrawal of supportive therapies, absence of child protection laws, and dearth of trained ethics consultants or institutional ethics committees providing clinical ethics consultation. Ethics training remains limited in undergraduate medical programs and absent in the resident curriculum at most institutions.

METHODS: A survey of Pediatric Residents and Pediatricians attending the Ethiopian Pediatric Society's 24th Annual Conference on March 2023 was conducted using a self-administered, clinical ethics needs assessment. …

Not Just A Pediatric Condition: Down Syndrome Across The Lifespan., Emily Haury, Jacqueline Kitchen, Brenda Rogers

Manuscripts, Articles, Book Chapters and Other Papers

With increasing life expectancy for individuals with Down Syndrome (DS), there are growing numbers of adult DS patients needing care from primary care physicians who are knowledgeable regarding their health needs and risks. The Global Down Syndrome Foundation (GDSF) Medical Care Guidelines for Adults with Down Syndrome identify important areas of focus: mental health, dementia, diabetes, cardiovascular disease, obesity, osteoporosis, atlantoaxial instability, hypothyroidism and celiac disease. Additionally, there are unique considerations regarding cancer risk and screenings, as well as vaccination. Young adults with DS should have a structured transition from pediatric to adult care like any patient with chronic illness …

Mosaic Loss Of Y Chromosome Associates With Lung Function, Emphysema, And Epigenetic Aging, Woei-Yuh Saw, Kangjin Kim, Yichen Huang, Jeong H Yun, Xiaolong Ma, Jason Bacon, Yash Pershad, Daniel Levy, George T O'Connor, Eric Boerwinkle, R Graham Barr, Stephen S Rich, Jerome I Rotter, April P Carson, Laura M Raffield, Sina A Gharib, Traci M Bartz, Bruce M Psaty, Tamar Sofer, Kari E North, Robert C Kaplan, Elizabeth C Oelsner, Ani Manichaikul, Alexander G Bick, Paul Scheet, Alexander P Reiner, Nhlbi Trans-Omics For Precision Medicine Consortium, Yasminka A Jakubek, Paul L Auer, Michael H Cho, Dawn L Demeo

Faculty, Staff and Student Publications

Rationale: As the global population ages, identifying risk factors for age-related diseases, such as COPD, is crucial for public health. Mosaic loss of Y chromosome (mLOY) in blood cells is an age-related somatic mosaicism event, but its relationship with pulmonary health remains undercharacterized.

Objectives: To examine the association between mLOY and pulmonary outcomes in men.

Methods: Leveraging mLOY assessment (cell fraction ≥ 5%) in over 12 000 men, including 5097 from the COPDGene Study and 7235 from six additional cohorts in the Trans-Omics for Precision Medicine program, we investigated mLOY associations with respiratory outcomes and epigenetic aging using multivariable cross-sectional, …

Current Adoption Of The Prosthodontic Diagnostic Index For Clinical Care-A Cross-Sectional Survey Study, Esther O Kuyinu, Joseph B Breitman, Arthur Nimmo, Jay S Patel

Faculty, Staff and Student Publications

Purpose: To assess current utilization of the Prosthodontic Diagnostic Index (PDI), identify perceived benefits and limitations, and evaluate support for future updates.

Materials and methods: A survey regarding the use of the PDI was made available through email invitations to 68 US dental school prosthodontic/restorative department chairs (PD), 48 graduate prosthodontic program directors (GP), and 1834 private practice prosthodontists (PP) from the American College of Prosthodontists (ACP) member database. The results of this initial survey were inconclusive due to low response rates. The survey was also administered during the 2024 ACP Annual Session with an improved response rate for educators. …

Development And Implementation Of Educational Modules On Management Of Neonates With Critical Congenital Heart Disease In The Delivery Room (Learn-Chd)., Noorjahan Ali, Brenda Law, Alyssa R. Thomas, Philip T. Levy, Ruby Gupta, Summer Elshenawy, Danielle Reed, Leeann R. Pavlek, Jennifer Shepherd, Sharada H. Gowda, Molly K. Ball, Beth Ann Johnson, Chloe Joynt

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Neonates with congenital heart disease may require delivery room interventions beyond standard care. Because existing guidelines and educational programs rarely address these needs, we developed and evaluated targeted educational modules.

METHODS: Teams were randomized to online eLearning modules or directed readings. Individual pre-/post-knowledge scores were compared. Team performance was tested in simulated delivery scenarios including abruption, hypoplastic left heart syndrome, d-transposition of great arteries and congenital complete heart block.

RESULTS: 32 teams from 9 centers participated. The module group had improved knowledge scores (mean change 6% vs -0.3% e-Learning group, p = 0.01). Simulation performance was similar between groups …

Implementation And Evaluation Of The Owll Intervention To Improve The Quality And Safety Of Pediatric Dental Sedation: A Mixed-Methods Approach, Kawtar Zouaidi, Jan Yeager, Sayali Tungare, Suhasini Bangar, Janelle Urata, Alfa-Ibrahim Yansane, Jungsoo Kim, Emily Sedlock, Krishna K Kookal, Yan Xiao, Oluwabunmi Tokede, Heiko Spallek, Amy Franklin, Gregory Olson, Joel White, Elsbeth Kalenderian, Muhammad F Walji

Faculty, Staff and Student Publications

Background: The OWLL (Open-Wide Learning Lab) intervention was developed using Human-Centered Design to improve the quality and safety of pediatric dental sedation. The intervention includes a patient-facing informational sedation brochure and video, and an enhanced set of clinical sedation records. Here, we report on the process evaluation 6 months after implementation in daily clinical practice.

Methods: This study was conducted at the outpatient pediatric dental clinics of 2 large US academic dental institutions. We used a mixed-methods design to assess the fidelity, acceptability, appropriateness, and feasibility of the OWLL intervention. Quantitative data were gathered through chart reviews, while qualitative data …

A Phase-Ii Randomized Controlled Pilot Study Of Nicotinamide Riboside Supplementation In Older Adults With Amnestic Mild Cognitive Impairment, Christopher Martens, Kevin Decker, Theodore Deconne, Faria Sanjana, Fiona Horvat, Nicholas Rizzi, Catherine Awad, Elizabeth Habash, Joshua Hobson, Mary Kramer, Michael Armstrong, Nichole Reisdorph, Ryan Pohlig, Alyssa Lanzi, Curtis Johnson, Matthew Cohen, James Ellison

Department of Psychiatry and Human Behavior Faculty Papers

INTRODUCTION: Declining nicotinamide adenine dinucleotide (NAD+) may elevate risk of Alzheimer's disease.

METHODS: We conducted a 12-week double-blind, randomized, placebo-controlled pilot study to evaluate the safety, tolerability, and preliminary efficacy of the NAD+ precursor, nicotinamide riboside (NR), for enhancing cognitive function and cerebral blood flow (CBF) in adults with amnestic mild cognitive impairment (aMCI).

RESULTS: 42 participants completed the study (NR = 22, placebo = 20). Adherence was similar between groups with no serious adverse effects. Blood NAD+ increased twofold in the NR group. There were no improvements in cognitive function (primary outcome), total CBF, or blood pressure (secondary outcomes). …

Evaluation Of The Impact Of A Pathology Trainee-Driven Manual Review Process For Reference Testing At A Large Academic Center, Carly Maucione, Christopher W Farnsworth, Mark A Zaydman

2020-Current year OA Pubs

BACKGROUND: Increasing reliance on and complexity of laboratory testing necessitates laboratory stewardship initiatives to ensure appropriate test ordering, especially as reference testing costs continue to rise. Prospective manual review processes, although demanding of resources, have been shown to be cost-effective, but literature addressing the value of such a process is lacking.

METHODS: The pathology trainee-driven manual review process of 444 chemistry and microbiology tests on approval at a large academic center was reviewed. Data were extracted from an internal-use call-log and analyzed for test volumes, cancellation rates, and cost savings. A hypergeometric distribution was used to model random variation in …

Board Exam Preparation Resource Trends In Academic Health Sciences Libraries Serving Colleges Of Osteopathic Medicine Programs., Joanne Muellenbach, Kyle Robinson, Hsin-Liang (Oliver) Chen, Harold S Bright, Lori Fitterling

PCOM Scholarly Works

BACKGROUND: The study seeks to identify the board exam preparation (prep) resources made available to medical students by academic health sciences libraries and other departments within U.S. colleges of osteopathic medicine (COM) programs, and the extent to which these resources are utilized by medical students and educators.

METHODS: The study was conducted in two phases. In phase one, forty-two COM library directors were invited to complete a survey regarding their usage, funding, and access models for available board prep resources. In phase two, semi-structured interviews were conducted via Zoom to explore the library's role in providing access to these resources. …

An Integrated Cardiometabolic Genetic Testing Program In A Predominantly Hispanic Population Within A Community Setting, Bo Yuan, Layla A Abushamat, Stacey Pereira, Surya Narayan Mulukutla, Grace E Tietz, Eric Venner, Sara E Kalla, Breanna Lee, Donna Muzny, Ginger Metcalf, Mullai Murugan, Sarah H Elsea, Senkottuvelan Kadirvel, Lele Li, Joshi Stephen, Shengfeng Xu, Victoria Yi, Monica Sulit, Christie L Kovar, Kimberly Walker, Marie-Claude Gingras, Jianhong Hu, Fei Yan, Taeko Gerber, Viktoriya Korchina, C Michael Fordis, Ruchi Gaba, Mahesh Changlani, Herschl Silberman, Hadley Stevens Smith, Christine M Eng, Jennifer E Posey, Clarisa Medina, Lisa R Treviño, Christie M Ballantyne, Richard A Gibbs, Ashok Balasubramanyam

Center for Medical Ethics and Health Policy Staff Publications

Purpose: This study aimed to apply cardiometabolic genetic testing in a community setting with a predominantly Hispanic population and assess feasibility and perspectives toward genetic testing.

Methods: A genome-sequencing-based genetic panel for cardiometabolic disorders (177 genes related to monogenic conditions, 2 LPA risk alleles, 2 pharmacogenomic loci, and ancestry-adjusted polygenic risk scores for type 2 diabetes and coronary artery disease) was deployed in community cardiology and endocrinology clinics in South Texas. A survey on perceptions toward genetic testing was administered after return of results.

Results: Testing was completed for 776 patients (18-92 years old, 92% Hispanic). 26 patients (3.4%) were …

Patient Perspectives On Psychiatric Polygenic Risk Scores In Reproductive Decision-Making And Polygenic Embryo Screening., Lauren A Ginn, Amanda R Merner, Page M Trotter, Kaitlynn P Craig, Abigail C Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M Ayton, Takahiro Soda, Eric A Storch, Gabriel Lázaro-Muñoz, Stacey Pereira

Center for Medical Ethics and Health Policy Staff Publications

Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome-wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions. As individuals with mental illness often identify concern about passing on psychiatric conditions as a key factor in family planning, some may also seek to use psychiatric PRS in reproductive decisions like childbearing or embryo selection for in vitro fertilization. Despite calls for increased regulation, there remains no clinical consensus on the utility of psychiatric PRS in reproductive contexts. Therefore, we conducted semi-structured interviews of adults with …

Clinical Features And Dental Pathologies In Maxillary Sinus Fungal Balls And Odontogenic Sinusitis, Eunice Im, Lane Donaldson, Avraham Adelman, Nithin D Adappa, Yi-Wei Chen, Nikita Chapurin, Jennifer E Douglas, Glen E D'Souza, Jacob Eide, Maria Espinosa, Chia-Hsiang Fu, Meha G Fox, Rohit Garg, Edward C Kuan, Michael A Kohanski, Marta Kwiatkowska, Kevin Li, Derek H Liu, Tran Bao Locke, Chih-Feng Lin, Chadi Makary, Alice Ottavi, Peter Papagiannopoulos, James N Palmer, Charles C L Tong, Bobby A Tajudeen, Sanjena Venkatesh, Kimberly Wei, Frederick Yoo, Alison J Yu, Jun Jin, Alberto M Saibene, John R Craig

Faculty, Staff and Students Publications

Objectives: While maxillary sinus fungal balls (MSFB) can be associated with odontogenic conditions (MSFBO), MSFBO clinical and dental features have not been compared to odontogenic sinusitis (ODS). This multicenter study aimed to compare characteristics of MSFB, MSFBO, and ODS.

Methods: A multicenter international retrospective cohort study was conducted on adults with MSFBs and ODS who underwent sinus surgery. First in MSFBs, it was determined whether different dental conditions were more likely in FB versus non-FB sides. Second, clinical features and dental pathologies were compared between MSFBO and ODS. For analyses, dental conditions were considered individually and as two groups: infectious …

Na-Gst-1 Adsorbed On Alhydrogel Co-Administered With Different Toll-Like Receptor Agonists In Hookworm-Naive Adults Using A Controlled Human Infection Model In The Usa: A Phase 2, Double-Blind, Randomised Controlled Trial, Caroline K Dirosato, Elissa M Malkin, Sean M Lee, Guacyara Erwin, Lara Hoeweler, Larissa Scholte, Maria Elena Bottazzi, David I Pritchard, Peter J Hotez, Jeffrey M Bethony, David J Diemert

Faculty, Staff and Students Publications

Background: Necator americanus glutathione S-transferase-1 (Na-GST-1) performs a crucial enzymatic step in hookworm blood feeding and is a leading target for vaccine development. Phase 1 trials in Brazil, Gabon, and the USA of recombinant Na-GST-1 adsorbed on Alhydrogel (Na-GST-1/Al), co-administered with or without AP 10-701 (Toll-like receptor [TLR] 4 agonist) or CpG 10104 (TLR9 agonist), showed the vaccine was well tolerated, safe, and immunogenic. A controlled human hookworm infection (CHHI) model was previously developed to evaluate the effect of candidate hookworm vaccines on infection. We aimed to assess the effect of vaccination with three different Na-GST-1 vaccine formulations on subsequent …

An Examination Of Buprenorphine And Norbuprenorphine Concentrations In Inpatients Receiving Medications For Opioid Use Disorder, Michèle Haykal, Benjamin Li, Andres Avellaneda Ojeda, Roberto Sanchez, Nancy Shenoi, Asim Shah, Nidal Moukaddam

Faculty, Staff and Students Publications

Background: Interpretation of urine buprenorphine and norbuprenorphine concentrations is widely used to assess adherence during treatment for opioid use disorder. However, the relationships between dose, timing of sample collection, and metabolite ratios remain unclear, leading to potential misinterpretation in clinical practice.

Methods: Data were collected from patients on a psychiatry unit who were either inducted on or continued buprenorphine therapy and underwent urine testing for buprenorphine and its metabolite, norbuprenorphine. Urine samples were collected 16 to 786 min after the last buprenorphine dose. Norbuprenorphine-to-buprenorphine ratios were calculated. Data analysis using Python included polynomial regression and random forest models.

Results: Daily …

A Nationwide Central Diagnosis For Pediatric Cns Tumors In Japan: The Jccg Brain Tumor And Pathology Committees, Yoshiko Nakano, Junko Hirato, Takako Yoshioka, Tetsuya Takimoto, Sumihito Nobusawa, Kaishi Satomi, Ran Tomomasa, Seiji Yamada, Taku Homma, Shoh Sasaki, Ayako Yamazaki, Maki Sakaguchi, Yasuhide Takeuchi, Nei Fukazawa, Kai Yamasaki, Kohei Fukuoka, Yui Shinohara Kimura, Yuki Nagayama, Yohei Inoue, Akira Miyahira, Ema Yoshioka, Asako Katsuma, Hayato Fukusumi, Tomoko Shofuda, Yuko Hibiya, Yuko Matsushita, Mai Honda Kitahara, Yuki Yomoda, Miho Kato, Michael D Taylor, Yasuhito Arai, Tatsuhiro Shibata, Hiroaki Sakamoto, Keita Terashima, Yoshiki Arakawa, Toshihiro Kumabe, Ryo Nishikawa, Junichi Hara, Yonehiro Kanemura, Koichi Ichimura

Faculty, Staff and Students Publications

In 2016, the Japan Children's Cancer Group launched a nationwide research initiative to provide central diagnosis incorporating pathology review and molecular profiling for pediatric central nervous system (CNS) tumors. Over the first eight years, 2224 cases were registered. Non-next-generation sequencing analyzes, such as pyrosequencing and NanoString, were routinely performed, mainly for glioma, medulloblastoma, and ependymoma. Additional analyzes, including methylation profiling and RNA sequencing, were conducted for selected diagnostically challenging cases. The most common diagnoses were low-grade glioma (26%), medulloblastoma (18%), germ cell tumor (16%), high-grade glioma (12%), and ependymoma (11%). Diagnostic or targetable alterations were detected in nearly half of …

Extending The Fundamental Theorem Of Biomedical Informatics For The Ai Era, Philip R O Payne, Jonathan H Chen, Christopher A Longhurst

2020-Current year OA Pubs

BACKGROUND: Charles Friedman's Fundamental Theorem of Biomedical Informatics holds that a person working in partnership with an information resource outperforms that same person unassisted. Since its publication, advances in artificial intelligence (AI), adaptive learning systems, and large-scale data infrastructures have transformed the biomedical ecosystem, extending informatics beyond clinical care into domains such as public health, consumer health, translational science, and the broader life sciences. Such expansion has further underscored the importance of the Fundamental Theorem while also elucidating ways it can be expanded to meet current needs.

OBJECTIVE: To reassess and extend the Fundamental Theorem for the AI era in …

Unveiling Unwritten Curricula: Enhancing Junior Faculty Development In Academic Emergency Medicine, Abagayle Bierowski, Casey Morrone, Erin Hoag, Ridhima Ghei, Michael Pasirstein, Julie Blaszczak, Dimitrios Papanagnou

Department of Emergency Medicine Faculty Papers

INTRODUCTION: The transition from resident to junior faculty in academic emergency medicine (EM) may be shaped not only by formal training and institutional policies but also by the "unwritten curriculum," a set of norms and expectations embedded in institutional culture. However, the unwritten curriculum and its potential to impact junior faculty development remains largely unexplored. Little is known about how junior faculty perceive, experience, and navigate these informal expectations, or the formal and informal structures that influence this process. In this study we aimed to explore junior faculty members' experiences with the unwritten curriculum in academic EM, with a focus …