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High-Order Brain Interactions During Ketamine-Induced State Changes: A Functional Marker Of Response In Late-Life Treatment-Resistant Depression?, Krisha Shah, Rubén Herzog, Alan C Swann, Brittany O'Brien, Rahul Balakrishnan, Sanjay J Mathew, Nicholas Murphy Jul 2026

High-Order Brain Interactions During Ketamine-Induced State Changes: A Functional Marker Of Response In Late-Life Treatment-Resistant Depression?, Krisha Shah, Rubén Herzog, Alan C Swann, Brittany O'Brien, Rahul Balakrishnan, Sanjay J Mathew, Nicholas Murphy

Faculty, Staff and Students Publications

Ketamine is a fast-acting intervention for treatment-resistant depression (TRD), yet only a subset of patients show robust clinical response, and the underlying neural mechanisms remain unclear. High-order interactions (HOI) derived from multivariate information theory provide a framework for examining nonlinear dependencies among brain regions beyond pairwise connectivity. One such metric, the O-information, captures the balance between synergistic and redundant interactions across three or more variables. In this secondary analysis of a randomized, double-blind, midazolam-controlled trial (NCT02556606), we examined EEG-derived HOI in 30 late-life veterans with TRD following a single 40-minute intravenous infusion of ketamine (0.1, 0.25, 0.5 mg/kg; n = …


Advancing Bioinformatics With Language Models: Components, Applications, And Perspectives, Jiajia Liu, Mengyuan Yang, Yankai Yu, Haixia Xu, Tiangang Wang, Kang Li, Xiaobo Zhou Jul 2026

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 …


Collaboration Is Key: Improving And Increasing Inclusive Programming Through Partnership, Brandy D James, Elizabeth Sparks, Fiona S Davey, Burris Duncan, Nadine Chau Jul 2026

Collaboration Is Key: Improving And Increasing Inclusive Programming Through Partnership, Brandy D James, Elizabeth Sparks, Fiona S Davey, Burris Duncan, Nadine Chau

Journal of Extension

Collaborative partnerships between Cooperative Extension offices and the University Centers for Excellence in Developmental Disabilities are a key opportunity to assess and improve accessible, inclusive programming for the communities they serve. This article outlines such a partnership between local Extension, the local UCEDD, and the local Network for Down Syndrome. It reviews their collaborative process and the resulting pilot program—-an inclusive cooking class. Evaluations of the program and collaborative process demonstrate that the partners' collaboration enabled organizational capacity building and improved service provision for persons with Down Syndrome.


Rapid Recovery Of Peripheral Oxygen Saturation In Hypoxic Covid-19 Patients With Ivermectin/Doxycycline/Zinc Multidrug Therapy, Sabine Hazan, Adriana C. Vidal, Eleftherios Gkioulekas, Anoja W. Gunaratne, Sibaish Dolai, Robert L. Clancy, Peter A. Mccullough, Thomas J. Borody Jul 2026

Rapid Recovery Of Peripheral Oxygen Saturation In Hypoxic Covid-19 Patients With Ivermectin/Doxycycline/Zinc Multidrug Therapy, Sabine Hazan, Adriana C. Vidal, Eleftherios Gkioulekas, Anoja W. Gunaratne, Sibaish Dolai, Robert L. Clancy, Peter A. Mccullough, Thomas J. Borody

School of Mathematical & Statistical Sciences Faculty Publications

Several combination therapies for the early outpatient treatment of COVID-19 were proposed by independent research groups at the onset of the pandemic during 2020 and 2021. In this observational study, we report on the outcomes of an off-label triple combination therapy, consisting of ivermectin, doxycycline, and zinc, with adjunct vitamin C and D3 supplementation, which was used on high-risk COVID-19 patients. These patients refused an initial recommendation to seek inpatient care, despite a high-risk presentation compounded with one or more comorbidities and/or severe hypoxia. Telemedicine was used to administer personalized treatment to patients at home, who did not have access …


Leadership-Mediated Retention Strategies To Sustain Workforce Capacity And Performance In Public Health, Meredith Winslow Wilkins Jul 2026

Leadership-Mediated Retention Strategies To Sustain Workforce Capacity And Performance In Public Health, Meredith Winslow Wilkins

Walden Dissertations and Doctoral Studies

Workforce retention challenges continue to affect public health leaders by contributing to staffing shortages, reduced organizational capacity, and disruptions in service delivery. Public health leaders are concerned with employee turnover because it affects workforce stability, organizational performance, and the ability to meet community health needs. Grounded in Herzberg’s motivation-hygiene theory, the purpose of this qualitative pragmatic inquiry was to explore effective workforce retention strategies used by public health leaders to retain skilled staff and strengthen organizational capacity and revenue. The participants were eight public health leaders in the Northeast region of the United States with responsibility for workforce management and …


Hypoglossal Nerve Stimulation For Obstructive Sleep Apnea: A Systematic Review And Meta-Analysis On Responder-Based Outcomes And Between-Study Heterogeneity, Clemens Heiser, Marcel Braun, Colin Huntley, Michael Hutz, Thomas Michael Kaffenberger, Maurits Boon Jul 2026

Hypoglossal Nerve Stimulation For Obstructive Sleep Apnea: A Systematic Review And Meta-Analysis On Responder-Based Outcomes And Between-Study Heterogeneity, Clemens Heiser, Marcel Braun, Colin Huntley, Michael Hutz, Thomas Michael Kaffenberger, Maurits Boon

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

Background: Hypoglossal nerve stimulation (HNS) is an established surgical therapy for adults with moderate-to-severe obstructive sleep apnea (OSA) who are intolerant to positive airway pressure. Although aggregate response rates of ~70–80% have been reported, substantial variability across clinical settings remains poorly understood. Prior meta-analyses have largely emphasized pooled continuous outcomes, limiting interpretation of responder-based endpoints and drivers of between-study heterogeneity. Methods: A PRISMA-compliant systematic review and meta-analysis was performed. MEDLINE, Embase, and Cochrane CENTRAL were searched from inception through 31 December 2025. Eligible studies enrolled adults with OSA treated with implantable HNS, reported Sher-defined response (≥50% AHI reduction and residual …


Extracellular Vesicle-Mediated Transfer Of Gsdme-Nt Pores As A Mechanism Of Inflammation Propagation, Bifeng Xiao Jul 2026

Extracellular Vesicle-Mediated Transfer Of Gsdme-Nt Pores As A Mechanism Of Inflammation Propagation, Bifeng Xiao

Master's Theses

Inflammasomes are multiprotein complexes that initiate inflammatory signaling through activation of caspase-1, cytokine maturation, and cleavage of Gasdermin D (GSDMD). Cleaved GSDMD forms membrane pores that contribute to cytokine release and pyroptotic cell death. Recent evidence suggests that extracellular vesicles (EVs) may facilitate the intercellular transfer of inflammatory mediators. This study investigated whether GSDMD N-terminal fragment (GSDMD-NT) associates with EV-enriched fractions and contributes to inflammation propagation. Doxycycline-inducible HeLa cells expressing FLAG-tagged GSDMD-NT were used to generate EV-enriched fractions. Western blot analysis detected GSDMD-NT-associated material within EV fractions, while EV marker analysis supported successful enrichment of EV-associated material. Exposure of recipient …


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 Jul 2026

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 …


Ai-Driven Detection Of Neurodevelopmental Disorder From Emotional Speech Using A Hybrid Cnn–Bilstm–Attention Framework, Nayarah Shabir, Parveen Lehana, Sheema Khan Jul 2026

Ai-Driven Detection Of Neurodevelopmental Disorder From Emotional Speech Using A Hybrid Cnn–Bilstm–Attention Framework, Nayarah Shabir, Parveen Lehana, Sheema Khan

School of Medicine Publications

Neurodevelopmental disorders (NDDs) are associated with impairments in communication, behavior, and social interaction, making accurate diagnosis clinically challenging. Autism Spectrum Disorder (ASD), a major NDD, often exhibits atypical speech patterns characterized by altered prosody and reduced emotional expressiveness. The study proposes a hybrid dual-path framework for ASD detection from emotional speech using two strategies: PCA–GMM-based acoustic modeling and a CNN–BiLSTM–Attention architecture for spectral–temporal feature learning. The proposed framework captures probabilistic, spectral, and temporal speech characteristics for robust ASD classification. Acoustic analysis demonstrated clear separability between ASD and non-ASD speech, while the deep learning framework achieved stable and reliable performance across …


Perspective On Lessons Not Learned: From Coley’S Toxins To Microbial Drug Delivery, Guidance For Institutional Review Boards (Irbs), Brian P. Hanley, Alejandro J. Betancourt, Gustavo Gross, Wilbur (Bo) Bowne Jul 2026

Perspective On Lessons Not Learned: From Coley’S Toxins To Microbial Drug Delivery, Guidance For Institutional Review Boards (Irbs), Brian P. Hanley, Alejandro J. Betancourt, Gustavo Gross, Wilbur (Bo) Bowne

School of Medicine Publications

The bacterial and toxin methods of cancer treatment date back 130 years. This paradigm rests on nonspecific bacterial-toxin-generated immunotherapy. This high-risk oncology research is experiencing a renaissance of methods that are among the most effective yet. Glioblastomas and other resistant cancers are the modern touchpoint, because of remission history following sepsis. Spurred by recent research deaths, we discuss protocols IRBs should consider in live bacterial or synthetic immuno-stimulatory trials. Human systemic inflammatory response syndrome immunology is unique due to non-functioning SIGLEC-13 and 17, which control excessive Toll-like receptor 4 (TLR-4) signaling. This is not a technicality like human CD8+/CD4+ T …


The Parts They Don’T See, Alexis Notarianni, Md Jul 2026

The Parts They Don’T See, Alexis Notarianni, Md

The Medicine Forum

People think they know what resident doctors do.

They know the obvious parts: we examine patients, prescribe medications, and write notes. We diagnose infections, perform procedures, and coordinate care with nurses. We work long hours and rarely have days off. From the outside, it looks familiar enough to understand.

But there is a large portion of this job that is invisible, even to the people closest to us. It is difficult to explain, and harder still to feel understood unless you are living it.


Large Language Models For Detecting Extraprostatic Extension In Free-Text Prostate Mri Radiology Reports, Nikhil Goyal, Md, Satvik Tripathi, Krishnan R. Patel, Md, Mhs, Hyun Tae Kim, Md, Mph, Tessa S. Cook, Md, Phd Jul 2026

Large Language Models For Detecting Extraprostatic Extension In Free-Text Prostate Mri Radiology Reports, Nikhil Goyal, Md, Satvik Tripathi, Krishnan R. Patel, Md, Mhs, Hyun Tae Kim, Md, Mph, Tessa S. Cook, Md, Phd

The Medicine Forum

Extraprostatic extension (EPE) is a prognostically important pathologic feature of prostate cancer that is difficult to predict preoperatively. Because EPE may be microscopic, it may not be detected with conventional imaging. Several magnetic resonance imaging (MRI) features associated with EPE risk are routinely described in radiology reports and may be detectable by large language models (LLMs). This study evaluated the performance of five commercial LLMs (GPT-3.5-turbo, GPT-4, GPT-4o-mini, GPT-4o, and o3-mini) in classifying pathologic EPE from free-text prostate MRI reports for patients with confirmed prostate cancer. Among the models tested, o3-mini achieved the highest accuracy (66.3%) and positive predictive value …


A Strain On The Heart: The Hidden Threat Of Ventricular Tachycardia, Sheraz Qamar, Md, Meiqi Luo, Md, Naila Ijaz, Md, Behzad Pavri, Md, Facc, Praveen Mehrotra, Md, Facc Jul 2026

A Strain On The Heart: The Hidden Threat Of Ventricular Tachycardia, Sheraz Qamar, Md, Meiqi Luo, Md, Naila Ijaz, Md, Behzad Pavri, Md, Facc, Praveen Mehrotra, Md, Facc

The Medicine Forum

Mitral valve prolapse (MVP) is increasingly recognized to have an arrhythmic phenotype associated with ventricular arrhythmias and sudden cardiac death independent of mitral regurgitation severity. Mitral annular disjunction (MAD) is a key structural abnormality implicated in abnormal myocardial mechanics and myocardial fibrosis. We describe a patient with MVP and MAD who developed recurrent non-sustained ventricular tachycardia in association with markedly abnormal basal lateral wall longitudinal strain and progressive myocardial fibrosis on cardiac magnetic resonance imaging. Surgical mitral valve repair performed for MAD resulted in resolution of annular disjunction, improvement in regional myocardial strain, and elimination of ventricular arrhythmias. This case …


The Medicine Forum: Volume 27 Jul 2026

The Medicine Forum: Volume 27

The Medicine Forum

The Journal of Thomas Jefferson University Hospital - Department of Internal Medicine, Volume 27, 2025-2026

TABLE OF CONTENTS

  • Case Reports
  • Letter to the Editor
  • Research Studies
  • Humanities & Reflections


Pharmed. System Manual: Hololens Application, Eden Woldeselassie Jul 2026

Pharmed. System Manual: Hololens Application, Eden Woldeselassie

Systems Manuals - 2026

This document provides the full life cycle of PharmEd HoloLens. PharmEd stands for Pharmacy Education. The overall document will go through the complete system manual by going over requirements, followed by design, how to install the application, how to upload the application to Microsoft store, troubleshooting and source code. The first section will explain the background, the existing problems and why the need to develop PharmEd.  Here techniques of requirement gathering and some statistics will elaborated. The following section discusses about functional requirements. The requirement section includes subtopics: functional and nonfunctional requirements for both -programmer and end user- and the …


The Impact Of Emergency Nurse Experience On Triage Accuracy During High-Volume Emergency Department Shifts, Grace Littlefield Rn, Mia Cianchette Rn, Benjamin Drummey Rn, Charles Stever Rn Jul 2026

The Impact Of Emergency Nurse Experience On Triage Accuracy During High-Volume Emergency Department Shifts, Grace Littlefield Rn, Mia Cianchette Rn, Benjamin Drummey Rn, Charles Stever Rn

Nurse Residency

PICOT Question: In adult emergency department patients, how does assigning an experienced emergency room nurse to the triage role compared to assigning a less experienced nurse improve triage accuracy rates during high-volume shifts?


Evaluating The Impact Of A Community-Based Prenatal Education Program On Maternal Knowledge And Intentions In Utah, Aaron T. Hunt, Jenna Dyckman, Kaylee Cox Jul 2026

Evaluating The Impact Of A Community-Based Prenatal Education Program On Maternal Knowledge And Intentions In Utah, Aaron T. Hunt, Jenna Dyckman, Kaylee Cox

Journal of Human Sciences and Extension

Maternal and infant health in the U.S. has worsened, with rising rates of maternal mortality, gestational diabetes, postpartum depression, and infant mortality. Prenatal education is a proven strategy to improve outcomes, yet many expecting parents rely on unvetted information or lack access to reliable resources. To address this gap, a pilot prenatal education program was implemented through Utah State University Extension to improve knowledge, attitudes, and intentions related to breastfeeding, nutrition, mental health, and other key topics. The program consisted of 3 1-hour, evidence-based workshops incorporating lectures and interactive activities. A retrospective pre-post survey was completed by 28 pregnant participants …


Use Of The Bethesda System For Reporting Thyroid Cytopathology In Thyroid Nodules Incoordination To The Appropriate Surgical Intervention, Rusul Abid Kareem, Basim Rassam Ghadhban Jul 2026

Use Of The Bethesda System For Reporting Thyroid Cytopathology In Thyroid Nodules Incoordination To The Appropriate Surgical Intervention, Rusul Abid Kareem, Basim Rassam Ghadhban

Iraqi Postgraduate Medical Journal

Background: The thyroid nodule refers to an abnormal growth of thyroid cells. Although the vast majority of thyroid nodules are benign, a small proportion of thyroid nodules are malignant. In order to diagnose and treat malignant thyroid nodules at the earliest stage, most of them need radiological and cytological evaluation. Fine-needle aspiration (FNA) using The Bethesda System for reporting thyroid cytopathology.Aim of study: To evaluate the significance of the Bethesda classification in detecting malignant thyroid nodule and relate the appropriate surgical intervention accordingly.Methods: prospective, case control study was conducted in Baghdad teaching hospital, 2nd floor. from 1st of December 2021 …


Pragmatic Measures In Aided Language Measurement: Aac Clinical Expert Perspectives, Makayla Hydiea Smith Jul 2026

Pragmatic Measures In Aided Language Measurement: Aac Clinical Expert Perspectives, Makayla Hydiea Smith

Speech and Hearing Sciences ETDs

Purpose: The augmentative and alternative communication (AAC) discipline currently lacks psychometrically sound aided language measures. This thesis is designed to address one step in developing such measures: to begin to establish the clinical feasibility of three pragmatic measures – communicative intent, independence/co-construction, and imitation/non-imitation. Therefore, the objective of this thesis is to identify the useability of these pragmatic measures.

Method: A qualitative approach in the form of a focus group was used to examine the perceptions of SLP practitioners who are experts in AAC. Rapid qualitative analysis (RQA) was used to identify relevant themes and subthemes.

Results: Overall, the themes …


Improving Continuity Of Care: Evaluating Universal Nursing Handoff Sheets, Elizabeth Ifeloluwa Sanya Jul 2026

Improving Continuity Of Care: Evaluating Universal Nursing Handoff Sheets, Elizabeth Ifeloluwa Sanya

Doctor of Nursing Practice Scholarly Projects

Effective communication during nursing handoffs is essential for safe, patient-centered care, as breakdowns in communication are a leading cause of adverse patient outcomes. At a large academic level I trauma center, inconsistent nursing handoff practices were identified across progressive care units following the COVID-19 pandemic. This variability contributed to incomplete transfer of patient information and was associated with increased patient safety incidents, including delayed wound care, central line dressing lapses, and medication errors involving high-alert therapies. The purpose of this DNP project was to plan, implement, and evaluate the use of  standardized nursing handoff sheet and its impact on continuity …


How To Tell A True Food Allergy From An Intolerance, Sarah Gubara, Aarti Pandya Jul 2026

How To Tell A True Food Allergy From An Intolerance, Sarah Gubara, Aarti Pandya

Pediatrics in Practice: A CME Podcast

This episode explains the key history elements and symptom timeline that differentiate an IgE-mediated food allergy from an intolerance or sensitivity, so clinicians and parents can make safer, evidence-based decisions. Aarti Pandya, MD, Medical Director of the Food Allergy Center at Children’s Mercy, reviews symptom patterns, timing and red flags for anaphylaxis. Learn about food allergy testing, IgE-mediated food allergy, anaphylaxis action plan, epinephrine auto-injector, food intolerance and when testing is truly warranted.

Click here to stream the podcast episode.


Characteristics Of Intensive Care Unit Registries - Findings From The Global Registry Icu Datasets (Grid) Survey, Luigi Pisani, Paola Lecce, Cornelius Sendagire, Vrindha Pari, Carlo Olivieri, Rabiul Uddin, Diptesh Aryal, Priyantha Athapattu, Sean Bagshaw, Wangari Siika Jul 2026

Characteristics Of Intensive Care Unit Registries - Findings From The Global Registry Icu Datasets (Grid) Survey, Luigi Pisani, Paola Lecce, Cornelius Sendagire, Vrindha Pari, Carlo Olivieri, Rabiul Uddin, Diptesh Aryal, Priyantha Athapattu, Sean Bagshaw, Wangari Siika

Anaesthesiology, East Africa

Background: Intensive care unit registries, which aim to improve the quality of intensive care unit care through benchmarking and quality improvement initiatives, are active worldwide, with considerable dishomogeneity. We aimed to map core datasets, additional variables, and research activities of these registries.

Methods: A cross-sectional survey was disseminated to registry leads between October 2023 and June 2024. The survey was structured into four main topics: registry characteristics and coverage, core dataset features, additional modules, and registry-enabled research.

Results: Leads of 34/42 national registries responded (response rate 81%), covering 3,337 intensive care units, with a larger representation from …


Assessing Hpv And Hpv Vaccine Awareness And Perception Amongst Undergraduate Students, Maura Hawkins Jul 2026

Assessing Hpv And Hpv Vaccine Awareness And Perception Amongst Undergraduate Students, Maura Hawkins

Honors Theses

Human Papillomavirus (HPV) is one of the most common sexually transmitted infections in the United States. Vaccination rates remain low among college-aged students despite an effective vaccine being available. This study investigates HPV and HPV vaccination-related knowledge, beliefs, and perceptions among undergraduate students to inform targeted intervention strategies. Participants included undergraduate students (n = 19) who attended one of three focus groups conducted in April 2025 at the University of South Alabama. Structured interview guides explored HPV knowledge, perceived risk and severity, attitudes towards vaccination, autonomy in health decision-making, trust in health information sources, and preferred educational strategies. Discussions were …


Evaluating The Accuracy Of Face2gene Phenotyping Tools In South African Children With Neurodevelopmental Disorders, Hendrike Mcdonald, Zandrè Bruwer, Michal Zieff, Emma Eastman, Brigitte Melly, Rizqa Sulaiman-Bardien, Karen Fieggen, Shahida Moosa, Charles Newton, Amina Abubakar Jul 2026

Evaluating The Accuracy Of Face2gene Phenotyping Tools In South African Children With Neurodevelopmental Disorders, Hendrike Mcdonald, Zandrè Bruwer, Michal Zieff, Emma Eastman, Brigitte Melly, Rizqa Sulaiman-Bardien, Karen Fieggen, Shahida Moosa, Charles Newton, Amina Abubakar

Institute for Human Development, East Africa

Objectives Computational phenotyping tools, like Face2Gene, are increasingly used to support genetic diagnosis by analysing facial features. These tools perform well in Global North populations but are less accurate in other groups. This study aimed to assess the performance of Face2Gene’s DeepGestalt, FeatureMatcher, and D-Score in South African children with neurodevelopmental disorders (NDDs) and unaffected controls.

Methods Facial photographs of 301 children from the NeuroDev South Africa study were analysed including 36 children with NDDs with a confirmed molecular diagnosis, 176 with NDDs without a confirmed molecular diagnosis, and 89 controls. Diagnostic accuracy of DeepGestalt and FeatureMatcher was assessed by …


Cross-Ancestry Polygenic Risk Scores Enhance Alzheimer's Disease Risk Prediction In Multiethnic Cohorts, Meri Okorie, Caroline Jonson, Alexis Oddi, Patricia Castruita, Brian Fulton-Howard, Kristine Yaffe, Jennifer Yokoyama, Chinedu Momoh, Shea Andrews Jul 2026

Cross-Ancestry Polygenic Risk Scores Enhance Alzheimer's Disease Risk Prediction In Multiethnic Cohorts, Meri Okorie, Caroline Jonson, Alexis Oddi, Patricia Castruita, Brian Fulton-Howard, Kristine Yaffe, Jennifer Yokoyama, Chinedu Momoh, Shea Andrews

Brain and Mind Institute

INTRODUCTION Genome-wide association studies (GWAS) have identified 80+ genetic loci associated with Alzheimer's disease (AD), enabling the development of polygenic risk scores (PRS). However, the predictive accuracy of PRS in diverse populations remains low. Here, we evaluated the predictive accuracy of single-, multi-, and cross-ancestry AD-PRS models across multi-ancestral populations.

METHODS We used AD GWAS summary statistics from European, African, Admixed American, and East Asian populations to construct AD-PRS for each target population. Model performance was assessed by estimating odds ratios, R2, and area under the curve.

RESULTS The cross-ancestry Bayesian PRS model demonstrated the highest predictive performance in non-European …


Acute Intermittent Hypoxia And Acute Intermittent Hypercapnic Hypoxia Elicit Cortico-Diaphragmatic Plasticity In People With Chronic Spinal Cord Injury, Alysha Bogard, Michela Mir, Tommy Sutor, Jessica Dunn, Kathryn Cavka, Arian Vistamehr, Hannah Snyder, Joseph Welch, Jayakrishnan Nair, Gina Brunetti, Gordon Mitchell, Emily Fox Jul 2026

Acute Intermittent Hypoxia And Acute Intermittent Hypercapnic Hypoxia Elicit Cortico-Diaphragmatic Plasticity In People With Chronic Spinal Cord Injury, Alysha Bogard, Michela Mir, Tommy Sutor, Jessica Dunn, Kathryn Cavka, Arian Vistamehr, Hannah Snyder, Joseph Welch, Jayakrishnan Nair, Gina Brunetti, Gordon Mitchell, Emily Fox

Department of Physical Therapy Faculty Papers

Respiratory impairment is a leading cause of morbidity and mortality after spinal cord injury (SCI), highlighting the need for interventions that improve breathing function. In people with SCI, acute intermittent hypoxia (AIH) elicits respiratory motor plasticity and improves inspiratory function. However, in uninjured people facilitation of corticospinal diaphragm motor evoked potential (MEP) amplitude occurs only when AIH is combined with mild hypercapnia (acute intermittent hypercapnic hypoxia; AIHH). It remains unclear whether AIHH similarly enhances diaphragm corticospinal excitability after SCI. We tested the hypothesis that AIHH increases diaphragm MEP amplitude and reduces MEP onset latency in individuals with chronic SCI, whereas …


Neoadjuvant Immunotherapy For Hepatocellular Carcinoma Is Associated With Improved Survival After Hepatectomy: A Matched Analysis Of The 2017 To 2022 National Cancer Database, Lawrence Chiang, Adam Bodzin, Daniel Lin, Nader Hanna, Scott Koeneman, Hien Dang, Charles J. Yeo, Christopher Shubert, R. Zheng Jul 2026

Neoadjuvant Immunotherapy For Hepatocellular Carcinoma Is Associated With Improved Survival After Hepatectomy: A Matched Analysis Of The 2017 To 2022 National Cancer Database, Lawrence Chiang, Adam Bodzin, Daniel Lin, Nader Hanna, Scott Koeneman, Hien Dang, Charles J. Yeo, Christopher Shubert, R. Zheng

Department of Surgery Faculty Papers

Background: Effects of neoadjuvant immunotherapy (NIT) before liver resection are not well-described in hepatocellular carcinoma (HCC). Survival and R0 resection rates in HCC patients undergoing curative-intent resection with or without NIT were evaluated.

Methods: A retrospective study of stage I-III HCC patients undergoing hepatectomy from the 2017–2022 National Cancer Database was performed. Patients receiving NIT were exactly matched 1:3 to non-NIT patients by clinical stage. Primary outcomes were margin positivity, 30- and 90-day mortality, and overall survival.

Results: After matching 510 patients, 97 received NIT and 291 did not (non-NIT). Resections included segmental (178, 45.9%), lobar (149, 38.4%), and extended …


Exploring Primary Care Providers’ Compassionate Care And Their Evidence-Based Practice With Death, Grief, And Loss: Patient Experience And Perspective, Kathryn Krzykala Jul 2026

Exploring Primary Care Providers’ Compassionate Care And Their Evidence-Based Practice With Death, Grief, And Loss: Patient Experience And Perspective, Kathryn Krzykala

Dissertations

Research on primary care providers’ (PCPs) education regarding Death, Grief, and Loss (DGL) remains limited. Specifically, data is lacking regarding patients' perceptions and opinions on what they need and expect from their PCPs regarding grief and loss. This exploratory mixed-method study comprised 146 participants who had experienced death and non-death loss. It examined participants' perceptions of 1) PCP compassion, 2) PCP utilization of evidence-based grief and loss practices, 3) their own level of comfort discussing DGL with their PCPs during medical visits, and 4) their personal grief and loss experiences. The findings revealed that PCPs' grief-informed evidence-based treatment, as reflected …


Personalizable Metabolic Models To Enable Immune Characterization And Drug Discovery, Joshua Loecker Jul 2026

Personalizable Metabolic Models To Enable Immune Characterization And Drug Discovery, Joshua Loecker

Department of Biochemistry: Dissertations, Theses, and Student Research

Cellular metabolism is reshaped by disease and physiological state, and genome-scale metabolic networks (GSMNs) offer a systematic way to interrogate this biology and identify therapeutic targets. Building a GSMN from expression data, however, requires a sequence of stages including read processing, normalization and gene-activity classification, multi-omic integration, model reconstruction, simulation, and biological interpretation. These are typically handled by disconnected tools spanning multiple programming languages, file formats, and databases. The resulting reliance on heterogeneous interfaces and manual steps threatens reproducibility. This work develops an ecosystem of computational tools that carry an analysis from raw sequencing reads to mechanistic biological interpretation. First, …


Cefepime Pharmacokinetics In Critically Ill Children With Multiple Organ Dysfunction Syndrome Using Volumetric Absorptive Microsampling, Victor Amajor, Amanda Bwint, Steven Shein, Janet Hume, Courtney Rowan, Leeanne Flygt, Matthew Malone, Erin Stenson, Scott Weiss, Matt Zinter, Sujatha Kannan, Mary Dahmer, Ryan Nofziger, Manjunath Pai, Athena Zuppa, Nathaniel Rhodes, Mark Hall, Marc Scheetz, Kevin Downes Jul 2026

Cefepime Pharmacokinetics In Critically Ill Children With Multiple Organ Dysfunction Syndrome Using Volumetric Absorptive Microsampling, Victor Amajor, Amanda Bwint, Steven Shein, Janet Hume, Courtney Rowan, Leeanne Flygt, Matthew Malone, Erin Stenson, Scott Weiss, Matt Zinter, Sujatha Kannan, Mary Dahmer, Ryan Nofziger, Manjunath Pai, Athena Zuppa, Nathaniel Rhodes, Mark Hall, Marc Scheetz, Kevin Downes

Department of Pediatrics Faculty Papers

Up to half of critically ill children experience multiple organ dysfunction syndrome (MODS), which worsens outcomes and increases mortality risk. Cefepime is a broad-spectrum antibiotic commonly used in pediatric sepsis, but its pharmacokinetics during MODS has not been evaluated. We performed a prospective, observational study of critically ill children with MODS who were administered cefepime and collected up to 15 whole blood samples over 3 days using volumetric absorptive microsampling (VAMS). We performed nonlinear mixed-effects modeling to develop a population PK model for cefepime in children with MODS. We then reran our final population PK model using estimated plasma concentrations …