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Disease-Causing Mfn2 Mutants Impair Mitochondrial Fission Dynamics By Distinct Drp1 Dysregulation, Daniel Lagos, Pamela R. De Santiago, Nicolás Pérez-Bravo, Benjamín Cartes-Saavedra, Josefa Vial-Brizzi, Diego Troncoso-Chandía, Oliver Podmanicky, Rita Horvath, Verónica Eisner Jun 2026

Disease-Causing Mfn2 Mutants Impair Mitochondrial Fission Dynamics By Distinct Drp1 Dysregulation, Daniel Lagos, Pamela R. De Santiago, Nicolás Pérez-Bravo, Benjamín Cartes-Saavedra, Josefa Vial-Brizzi, Diego Troncoso-Chandía, Oliver Podmanicky, Rita Horvath, Verónica Eisner

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Mitochondria undergo fusion and fission. While DRP1 regulates fission, fusion is controlled by OPA1, MFN1, and MFN2. The balance between these processes and the crosstalk between machineries remains poorly understood. MFN2 mutations cause Charcot-Marie-Tooth disease type 2 A (CMT2A), affecting mitochondrial fusion and morphology. However, their role in fission is unclear. Using skin fibroblasts from CMT2A patients (L248H and M376V MFN2 mutations) and wild-type mouse embryonic fibroblasts expressing these variants, we studied how MFN2 mutations impact mitochondrial dynamics beyond fusion. We analyzed mitochondrial morphology and dynamics by live-cell confocal microscopy and tested fusion/fission protein levels, oxygen consumption rate (OCR), extracellular …


Targeted Reflex Rna Sequencing For Enhanced Variant Classification On Exome And Genome Sequencing Improves Patient Outcomes, Xiaonan Zhao, Robert Rigobello, Morgan Driver, Sydney Lau, Mei Ling Chong, Jason Chibuk, Hongzheng Dai, Wilson C W Wu, Christina Peroutka, Laura Famularo, Alexander Y Kim, Bailey Hummel, Sarah Dugan, Tinsley Douglas, Linyan Meng, Fan Xia, Christine M Eng Jun 2026

Targeted Reflex Rna Sequencing For Enhanced Variant Classification On Exome And Genome Sequencing Improves Patient Outcomes, Xiaonan Zhao, Robert Rigobello, Morgan Driver, Sydney Lau, Mei Ling Chong, Jason Chibuk, Hongzheng Dai, Wilson C W Wu, Christina Peroutka, Laura Famularo, Alexander Y Kim, Bailey Hummel, Sarah Dugan, Tinsley Douglas, Linyan Meng, Fan Xia, Christine M Eng

Faculty, Staff and Students Publications

RNA sequencing (RNA-seq) has been utilized to provide functional evidence regarding the impact of splicing variants. This study explores the utility of targeted reflex RNA-seq to inform classification of predicted splicing variants identified through clinical exome sequencing (ES) and genome sequencing (GS). A retrospective analysis was conducted on consecutive ES/GS cases completed at a single center in which targeted reflex RNA-seq was performed following identification of eligible variants. There were 131 cases (4.1%) that had at least one RNA-seq eligible variant reported, with eight of these cases having two unique eligible variants. Of the 139 eligible variants, 125 were classified …


Safety And Synergy Of Finerenone And Empagliflozin In Lowering Blood Pressure, Rajiv Agarwal, Ricardo Correa-Rotter, Sankar D Navaneethan, Hiddo J L Heerspink, Matthew R Weir, Janet B Mcgill, Amy K Mottl, Masaomi Nangaku, Julio Rosenstock, Peter Rossing, Muthiah Vaduganathan, Charlie Scott, Li Li, Meike Brinker, Csaba P Kovesdy, Jennifer B Green, Johannes F E Mann Jun 2026

Safety And Synergy Of Finerenone And Empagliflozin In Lowering Blood Pressure, Rajiv Agarwal, Ricardo Correa-Rotter, Sankar D Navaneethan, Hiddo J L Heerspink, Matthew R Weir, Janet B Mcgill, Amy K Mottl, Masaomi Nangaku, Julio Rosenstock, Peter Rossing, Muthiah Vaduganathan, Charlie Scott, Li Li, Meike Brinker, Csaba P Kovesdy, Jennifer B Green, Johannes F E Mann

Faculty, Staff and Students Publications

Background: This secondary analysis of the CONFIDENCE (combination effect of fInerenone and empagliflozin in participants with chronic kidney disease and type 2 diabetes using a UACR endpoint) trial (REGISTRATION: URL: https://www.clinicaltrials.gov; Unique identifier: NCT05254002) assessed systolic blood pressure (SBP) changes with empagliflozin/finerenone combination therapy versus monotherapy in people with chronic kidney disease and type 2 diabetes across baseline SBP categories. We assessed SBP response predictors and whether early (day 30) SBP changes mediate urinary albumin-to-creatinine ratio reductions.

Methods: Participants (n=800) were stratified by baseline SBP (< 130 mm Hg; ≥130 mm Hg). Outcomes included SBP response (≥10 mm Hg reduction from baseline at day 180) and longitudinal SBP changes, analyzed by linear mixed-effects models and logistic regression. Causal mediation analysis, a secondary exploratory analysis, evaluated the effect of day 30 SBP change on day 180 urinary albumin-to-creatinine ratio reduction.

Results: At baseline, 532 (66%) participants had SBP ≥130 mm Hg; 268 (34%) …


Continuous Glucose Monitoring Use In The Management Of Type 2 Diabetes In Primary Care: Cross-Sectional Survey Of Provider Comfort, Ryley Harris, Catherine Guariglia, Amy Cunningham Jun 2026

Continuous Glucose Monitoring Use In The Management Of Type 2 Diabetes In Primary Care: Cross-Sectional Survey Of Provider Comfort, Ryley Harris, Catherine Guariglia, Amy Cunningham

Department of Family & Community Medicine Faculty Papers

This study assessed primary care providers’ comfort with prescribing and using continuous glucose monitoring technology for type 2 diabetes management, identifying key barriers and educational needs.


Implementation And Evaluation Of A Nurse-Led Telehealth Protocol To Reduce No-Show Rates Among Chronic Care Patients, Yaneisy Puig Jun 2026

Implementation And Evaluation Of A Nurse-Led Telehealth Protocol To Reduce No-Show Rates Among Chronic Care Patients, Yaneisy Puig

Walden Dissertations and Doctoral Studies

No abstract provided.


Cesarean Births Among Non-Us Born Hispanic Women: A Qualitative Study, Linda Presson, Christopher Arzadon, Cecilia Bustamante-Pixa, Wally Mijangos, Trisha Saul Jun 2026

Cesarean Births Among Non-Us Born Hispanic Women: A Qualitative Study, Linda Presson, Christopher Arzadon, Cecilia Bustamante-Pixa, Wally Mijangos, Trisha Saul

Publications 2026-present

No abstract provided.


Impact Of Lumen Origin And Gap Distance On Target Vessel Outcomes Following Fenestrated-Branched Endovascular Aortic Repair Of Postdissection Thoracoabdominal Aortic Aneurysms, Armin Tabiei, Jesse Chait, Andrea Vacirca, Randall R Demartino, Emanuel R Tenorio, Fahad Shuja, Dora Babocs, Guilherme B B Lima, Naveed Saqib, Gustavo S Oderich, Bernardo C Mendes Jun 2026

Impact Of Lumen Origin And Gap Distance On Target Vessel Outcomes Following Fenestrated-Branched Endovascular Aortic Repair Of Postdissection Thoracoabdominal Aortic Aneurysms, Armin Tabiei, Jesse Chait, Andrea Vacirca, Randall R Demartino, Emanuel R Tenorio, Fahad Shuja, Dora Babocs, Guilherme B B Lima, Naveed Saqib, Gustavo S Oderich, Bernardo C Mendes

Faculty, Staff and Students Publications

Background: This study evaluated the role of target vessel (TV) lumen origin and fenestration gap (FG) distance between the endograft and the aortic wall on TV outcomes following fenestrated-branched endovascular aortic repair (FB-EVAR) for postdissection thoracoabdominal aortic aneurysms (PD-TAAAs).

Methods: A multicenter review of prospectively and retrospectively collected data of patients undergoing FB-EVAR for PD-TAAAs between 2013 and 2023 was performed. Lumen origin was retrospectively analyzed on preoperative imaging studies and classified as true lumen (TL) only, false lumen (FL) only, or both TL and FL. The FG distance was retrospectively measured on postoperative imaging studies and included as a …


Young Man With Neck Pain, Sejal Patel, Steven Graver, Megan Daniels, Kelly Goodsell, Arthur K. Au Jun 2026

Young Man With Neck Pain, Sejal Patel, Steven Graver, Megan Daniels, Kelly Goodsell, Arthur K. Au

Department of Emergency Medicine Faculty Papers

No abstract provided.


Global Burden Of Drug-Resistant Tuberculosis In Children: A Systematic Analysis For The Global Burden Of Disease Study, Xuhui Liu, Peierdun Mijiti, Lu Xia, Sylvia M Lacourse, Wulan Talafuhan, Alexander W Kay, Yang Yang, Huarui Liu, Dan Ye, Leonardo Martinez, Shuihua Lu, Adong Shen, Anna M Mandalakas, Feng Li, Christoph Lange, Zhen Huang Jun 2026

Global Burden Of Drug-Resistant Tuberculosis In Children: A Systematic Analysis For The Global Burden Of Disease Study, Xuhui Liu, Peierdun Mijiti, Lu Xia, Sylvia M Lacourse, Wulan Talafuhan, Alexander W Kay, Yang Yang, Huarui Liu, Dan Ye, Leonardo Martinez, Shuihua Lu, Adong Shen, Anna M Mandalakas, Feng Li, Christoph Lange, Zhen Huang

Faculty, Staff and Students Publications

Background: Paediatric tuberculosis (TB), particularly drug-resistant TB (DR-TB), is associated with significant mortality. However, the global burden of childhood TB remains poorly understood.

Methods: We analysed incident cases, deaths, and age-standardised incidence and mortality rates among children (0-14 years) with multidrug-resistant/rifampicin-resistant tuberculosis (MDR/RR-TB) and extensively drug-resistant tuberculosis (XDR-TB) using the Global Burden of Disease (GBD) 2021 database. Data were stratified by age, sex, region, country, and HIV/AIDS status. Annual and average annual percentage changes were assessed using joinpoint regression analysis. Secondary analyses compared adult and paediatric TB trends in the End TB era and evaluated the potential impact of the …


Intrathecal Antibody Synthesis - Reiber Method Revisited, John J. Halperin, Dane Granger Jun 2026

Intrathecal Antibody Synthesis - Reiber Method Revisited, John J. Halperin, Dane Granger

Department of Neurology Faculty Papers

BACKGROUND: CSF immunoglobulin (IgG) often informs diagnosis in CNS inflammatory disease- qualitatively (oligoclonal bands; OCBs), or quantitatively (CSF: serum IgG: albumin, e.g. IgG index). Most US laboratories estimate excess CSF IgG using linear models, most in Europe, Reiber's hyperbolic model - the latter often also incorporated into CSF pathogen-specific immunoreactivity calculations. We compared Reiber hyperbolic and linear approaches.

METHODS: Required data were available for 1,872 samples, Lyme-specific data for 1,365. We compared linear and Reiber's hyperbolic models to determine which better describes normal CSF: serum IgG/albumin, assessed correlations with OCBs using ROC analysis and compared Lyme-specific antibody indices (AI) by …


The Aggregated Latent Profile Index: Measuring Person Profile Differentiation Within A Bootstrap-Validated Latent Profile Space, Se-Kang Kim Jun 2026

The Aggregated Latent Profile Index: Measuring Person Profile Differentiation Within A Bootstrap-Validated Latent Profile Space, Se-Kang Kim

Faculty, Staff and Students Publications

Multivariate assessment profiles contain two conceptually distinct sources of variation: overall level and profile shape. Existing approaches recover some aspects of this structure, but none jointly establishes the replicability of latent pattern dimensions and provides a principled, population-referenced summary of person profile differentiation independent of overall level. We introduce the Aggregated Latent Profile Index (ALPI), a variance-weighted Euclidean distance that quantifies the degree to which an individual’s profile departs from a flat population reference within a bootstrap-validated latent profile space. ALPI is derived from the Aggregated Latent Profile Space (ALPS), a framework that combines parallel analysis with bootstrap stability diagnostics …


Cross-Cultural Differences Among Children And Youth With Special Health Care Needs: A Mixed-Methods Analysis Of Chinese, Spanish, And English-Speaking Families, Kathleen Mcgrath, Miriam Franco, Amy Morales-Lara, Karen Bonuck Phd, Joanne Siegel Jun 2026

Cross-Cultural Differences Among Children And Youth With Special Health Care Needs: A Mixed-Methods Analysis Of Chinese, Spanish, And English-Speaking Families, Kathleen Mcgrath, Miriam Franco, Amy Morales-Lara, Karen Bonuck Phd, Joanne Siegel

Developmental Disabilities Network Journal

One in five U.S. children has a special health care need, with prevalence rates rising each year. Children and youth with special health care needs (CYSHCN) from immigrant and/or non-English speaking families face heightened barriers to care, unmet health needs, and worsened health outcomes. This mixed-methods study explores cross-cultural similarities and differences among English-, Spanish-, and Chinese-speaking families of CYSHCN across four key domains – (1) the diagnostic process, (2) access to essential services, (3) community integration, and (4) social supports. As part of a statewide, New York State Department of Health funded initiative implemented across three University Centers for …


The Feasibility Of A Single Educational Intervention To Improve Caregiver Confidence In Stroke Rehabilitation, Angelica Fedorchak, Jennifer E. Lape Jun 2026

The Feasibility Of A Single Educational Intervention To Improve Caregiver Confidence In Stroke Rehabilitation, Angelica Fedorchak, Jennifer E. Lape

Internet Journal of Allied Health Sciences and Practice

Purpose: Caregivers play a critical role in providing support to stroke survivors during recovery, but they often face emotional, physical, and educational challenges that can lead to caregiver burden and burnout. Despite the significant impact education can have on caregivers, rehabilitation professionals in inpatient rehabilitation settings often struggle to provide comprehensive training due to time constraints and strict productivity standards. This feasibility study aimed to evaluate whether an individualized one-time caregiver education session, integrated into the discharge planning process, could enhance caregiver confidence and whether the necessary education could be practically integrated into the existing staffing, reimbursement, and organizational structure …


Bullying, Early Sexual Debut, And Sexual Health Behaviors Among Adolescents In New York City, Valentina I. Ramirez Jun 2026

Bullying, Early Sexual Debut, And Sexual Health Behaviors Among Adolescents In New York City, Valentina I. Ramirez

Dissertations and Theses

Adolescent sexual and reproductive health remains a critical public health priority in the United States, particularly given the persistent burden of HIV and sexually transmitted infections (STIs) among young people. Adolescents and young adults account for a disproportionate share of STI cases, reflecting ongoing gaps in prevention, early detection, treatment, and equitable access to sexual health care and services. These patterns are shaped not only by individual behaviors but also by broader social, structural, and developmental contexts that influence adolescents’ opportunities to engage in preventive sexual health care.

This dissertation examined associations between early sexual debut, experiences of bullying, and …


Loss Of Mct1 Mediated Lactate Uptake Causes Delayed Endplate Maturation And Intervertebral Disc Degeneration, Maria Tsingas, Konstantinos Tsingas, Mei Smyers, Wujuan Zhang, Aaron R. Goldman, Eulisa Lawrence, John A. Collins, Makarand V. Risbud Jun 2026

Loss Of Mct1 Mediated Lactate Uptake Causes Delayed Endplate Maturation And Intervertebral Disc Degeneration, Maria Tsingas, Konstantinos Tsingas, Mei Smyers, Wujuan Zhang, Aaron R. Goldman, Eulisa Lawrence, John A. Collins, Makarand V. Risbud

Department of Orthopaedic Surgery Faculty Papers

During skeletal growth, it is thought that the lactate secreted by the glycolytic nucleus pulposus (NP) cells exits the intervertebral disc into circulation via endplates. Our current studies challenge this long-held notion. Mice with early postnatal, endplate, and annulus fibrosus-specific deletion of lactate importer, MCT1, exhibited disc degeneration characterized by NP cell loss and pronounced endplate structural changes. Using metabolic and transcriptomic approaches, we demonstrate that MCT1 loss inhibits endplate chondrocyte differentiation and that lactate serves both as a crucial TCA metabolite and promotes protein and histone lactylation and gene expression. These findings suggest that during skeletal growth, NP-derived lactate …


Transgenic Hookworm Secretes Anti-Tetrodotoxin Human Single Chain Antibody, Kumar Sachin Singh, Suman Bharti, Bruce A Rosa, Mahdiyeh Bigham, Samuel C Uzoechi, Young-Jun Choi, John C Martin, Danielle Kemper, Slavica Pavlovic Djuranovic, Darren A Pickering, Rachael Ryan, Bethany K Bracken, Maria Elena Bottazzi, Eric C Carnes, Wannaporn Ittiprasert, Matthew Moyle, Paul J Brindley, Alex Loukas, Sergej Djuranovic, Makedonka Mitreva Jun 2026

Transgenic Hookworm Secretes Anti-Tetrodotoxin Human Single Chain Antibody, Kumar Sachin Singh, Suman Bharti, Bruce A Rosa, Mahdiyeh Bigham, Samuel C Uzoechi, Young-Jun Choi, John C Martin, Danielle Kemper, Slavica Pavlovic Djuranovic, Darren A Pickering, Rachael Ryan, Bethany K Bracken, Maria Elena Bottazzi, Eric C Carnes, Wannaporn Ittiprasert, Matthew Moyle, Paul J Brindley, Alex Loukas, Sergej Djuranovic, Makedonka Mitreva

Faculty, Staff and Students Publications

Biologics, protein- and peptide-based drugs derived from living organisms or cell lines have emerged as effective therapies across a broad range of indications. However, parenteral administration and the need for frequent dosing increase costs and limit compliance, creating an urgent need for innovative platforms capable of continuously, safely, and efficiently delivering sustained biologics in situ within the host. Here, we describe a bioengineered hookworm platform to manufacture and deliver biologic therapeutics in vivo. As proof of concept, we engineer the Ancylostoma ceylanicum secretome by inserting a human single-chain variable fragment antibody (s16-HuScFv) into its genome. Transgene expression does not perturb …


Genetic Architecture Of White Matter Microstructure Captured By Unsupervised Deep Representation Learning Of Fractional Anisotropy Maps, Xingzhong Zhao, Ziqian Xie, Wei He, Hyun Yong Koh, Bohong Guo, Han Chen, Myriam Fornage, Degui Zhi Jun 2026

Genetic Architecture Of White Matter Microstructure Captured By Unsupervised Deep Representation Learning Of Fractional Anisotropy Maps, Xingzhong Zhao, Ziqian Xie, Wei He, Hyun Yong Koh, Bohong Guo, Han Chen, Myriam Fornage, Degui Zhi

The Brown Foundation: Institute of Molecular Medicine

Fractional anisotropy (FA) from diffusion MRI is a widely used marker of white matter (WM) integrity, but conventional FA-based genetic studies typically rely on tract- or atlas-defined averages that may obscure spatially distributed WM variation and limit genetic discovery. Here, we propose a deep learning framework, termed unsupervised deep representation of WM (UDR-WM), which uses voxel-wise FA maps to derive brain-wide unsupervised deep imaging phenotypes (UDIP-FA) without prior anatomical assumptions. Compared with traditional FA phenotypes, UDIP-FA shows greater sensitivity to aging and substantially higher SNP-based heritability. Multivariate GWAS identified 939 lead SNPs across 586 loci, mapping to 3,480 UDIP-FA-associated genes. …


From Performance To Practice: Knowledge-Distilled Segmentator For On-Premises Clinical Workflows, Qizhen Lan, Aaron Choi, Jun Ma, Bo Wang, Zhongming Zhao, Xiaoqian Jiang, Yu-Chun Hsu Jun 2026

From Performance To Practice: Knowledge-Distilled Segmentator For On-Premises Clinical Workflows, Qizhen Lan, Aaron Choi, Jun Ma, Bo Wang, Zhongming Zhao, Xiaoqian Jiang, Yu-Chun Hsu

Faculty, Staff and Student Publications

Deploying medical image segmentation models in routine clinical workflows is often constrained by on-premises infrastructure, where computational resources are fixed and cloud-based inference may be restricted by governance and security policies. While high-capacity models achieve strong segmentation accuracy, their computational demands hinder practical deployment and long-term maintainability in hospital environments. We present a deployment-oriented framework that leverages knowledge distillation to translate a high-performing segmentation model into a scalable family of compact student models without modifying the inference pipeline. The framework is primarily evaluated on nnU-Net, with additional validation across transformer and heterogeneous teacher–student architectures. The proposed approach preserves architectural compatibility …


The Influence Of Social Media Messaging On Human Papillomavirus Vaccine Attitudes And Confidence Among Adolescent Males: Group Discussion Study, Neha Trivedi, Rachel Van Vleet, Czesia Eid, Amelia Burke-Garcia, Amy Leader Jun 2026

The Influence Of Social Media Messaging On Human Papillomavirus Vaccine Attitudes And Confidence Among Adolescent Males: Group Discussion Study, Neha Trivedi, Rachel Van Vleet, Czesia Eid, Amelia Burke-Garcia, Amy Leader

Department of Medical Oncology Faculty Papers

BACKGROUND: Despite the human papillomavirus (HPV) vaccine being available to males for the past 12 years, adolescent males continue to lag in HPV vaccine uptake due to a variety of factors. With the ubiquitous nature of social media use among this population, further research is needed to improve HPV vaccine confidence among young adolescent males using these platforms.

OBJECTIVE: Using the Elaboration Likelihood Model (ELM), this study sought to better understand knowledge, attitudes, and beliefs about HPV and HPV vaccination among male adolescents aged 14-17 years and examine how social media messaging influences vaccine perceptions and explore the characteristics of …


Vitamin D–Amp Axis In Host Defense Against Fungal Infections, Nuraly S. Akimbekov, Ilya Digel, Svetlana K. Sakhanova, Kuanysh Tastambek, Dinara K. Sherelkhan, Mohammed S. Razzaque Jun 2026

Vitamin D–Amp Axis In Host Defense Against Fungal Infections, Nuraly S. Akimbekov, Ilya Digel, Svetlana K. Sakhanova, Kuanysh Tastambek, Dinara K. Sherelkhan, Mohammed S. Razzaque

School of Medicine Publications

Vitamin D–mediated regulation of antimicrobial peptides (AMPs) is an important focus in innate immunology and is aimed at elucidating the role of vitamin D in enhancing antimicrobial defense. AMPs are short protein chains that serve as a first line of defense against invading pathogens, including fungi, bacteria and viruses. Unlike conventional antibiotics, AMPs are produced endogenously and are less likely to induce antimicrobial resistance, making them promising candidates for treating infections caused by drug-resistant pathogens. Studies indicate that optimal vitamin D levels are essential for activating antimicrobial pathways and regulating AMPs that target multiple fungal pathogens. This article summarizes recent …


Impact (Immune Monitoring And Phenotype Assessment Of Clinical Trajectory) For Patients With Inborn Errors Of Immunity From The Primary Immune Deficiency Treatment Consortium (Pidtc), Danielle E Arnold, Hesham Eissa, Elizabeth Dunn, Geoffrey D E Cuvelier, Nicola A M Wright, Rebecca A Marsh, Suhag Parikh, Blachy Davila Saldana, Mark T Vander Lugt, Rosa Bacchetta, Lisa Forbes Satter, Shanmuganathan Chandrakasan, Erinn Kellner, Eric J Allenspach, Erica G Schmitt, Brent Logan, Lauri Burroughs, Morton J Cowan, Linda M Griffith, Luigi Notarangelo, Sung-Yun Pai, Michael A Pulsipher, Christopher C Dvorak, Elie Haddad, Jennifer M Puck, Troy R Torgerson, Jennifer W Leiding, Jennifer Heimall, Alice Y Chan Jun 2026

Impact (Immune Monitoring And Phenotype Assessment Of Clinical Trajectory) For Patients With Inborn Errors Of Immunity From The Primary Immune Deficiency Treatment Consortium (Pidtc), Danielle E Arnold, Hesham Eissa, Elizabeth Dunn, Geoffrey D E Cuvelier, Nicola A M Wright, Rebecca A Marsh, Suhag Parikh, Blachy Davila Saldana, Mark T Vander Lugt, Rosa Bacchetta, Lisa Forbes Satter, Shanmuganathan Chandrakasan, Erinn Kellner, Eric J Allenspach, Erica G Schmitt, Brent Logan, Lauri Burroughs, Morton J Cowan, Linda M Griffith, Luigi Notarangelo, Sung-Yun Pai, Michael A Pulsipher, Christopher C Dvorak, Elie Haddad, Jennifer M Puck, Troy R Torgerson, Jennifer W Leiding, Jennifer Heimall, Alice Y Chan

Faculty, Staff and Students Publications

Background: Evaluating natural history and outcomes of rare inborn errors of immunity (IEIs) has been challenging due to the diverse disease manifestations and lack of standardized data.

Objective: To develop a set of standardized, quantitative, generalizable data collection modules to measure organ dysfunction in IEIs, modeled on the previously validated Common Terminology Criteria for Adverse Event system for grading treatment toxicity.

Methods: Disease conditions were organized by organ system. Experts from the Primary Immune Deficiency Treatment Consortium identified essential features of severe combined immunodeficiency, chronic granulomatous disease, Wiskott-Aldrich syndrome, and primary immune regulatory disorders and compared these to Common Terminology …


A Novel Qa Method For Adaptive Aperture Position Verification Of Proton Therapy System, Shuxin Fan, Tiezhi Zhang, Xiandong Zhao, Winter Green, Baozhou Sun, Tianyu Zhao, Yao Hao Jun 2026

A Novel Qa Method For Adaptive Aperture Position Verification Of Proton Therapy System, Shuxin Fan, Tiezhi Zhang, Xiandong Zhao, Winter Green, Baozhou Sun, Tianyu Zhao, Yao Hao

Faculty, Staff and Students Publications

Accurate Adaptive Aperture (AA) leaf positioning is essential for some proton therapy systems to ensure precise dose delivery and patient safety. However, conventional quality assurance (QA) methods can be suboptimal or inefficient for routinely assessing the dynamic nature of AA in the Mevion S250i HYPERSCAN system. This study introduces a novel automated QA method to verify AA positions utilizing a scintillation detector. A specialized QA plan consisting of 7 rectangular fields was generated in the RayStation treatment planning system (TPS) and delivered using the Mevion S250i HYPERSCAN proton therapy system. Dose distributions were measured with an IBA Lynx PT scintillation …


The Omeract Core Domain Sets For Calcium Pyrophosphate Deposition Disease, Nicola Dalbeth, Yiling Zhang, Owen Hensey, David Grossberg, Ken Cai, Amy Fuller, Geraldine M Mccarthy, Tristan Pascart, Augustin Latourte, Edoardo Cipolletta, William J Taylor, Cesar Diaz-Torne, Tim L Jansen, Lih En Hong, Silvia Sirotti, Fabio Becce, Georgios Filippou, Beverley Shea, Robin Christensen, Jasvinder A Singh, Abhishek Abhishek, Sara K Tedeschi Jun 2026

The Omeract Core Domain Sets For Calcium Pyrophosphate Deposition Disease, Nicola Dalbeth, Yiling Zhang, Owen Hensey, David Grossberg, Ken Cai, Amy Fuller, Geraldine M Mccarthy, Tristan Pascart, Augustin Latourte, Edoardo Cipolletta, William J Taylor, Cesar Diaz-Torne, Tim L Jansen, Lih En Hong, Silvia Sirotti, Fabio Becce, Georgios Filippou, Beverley Shea, Robin Christensen, Jasvinder A Singh, Abhishek Abhishek, Sara K Tedeschi

Faculty, Staff and Students Publications

Objectives: To develop OMERACT core domain sets for chronic and recurrent calcium pyrophosphate deposition (CPPD) disease and acute calcium pyrophosphate (CPP) crystal arthritis.

Methods: Following OMERACT methodology, the CPPD Working Group (comprising of patient research partners, fellows, clinicians, and methodologists) defined the core domain sets. The development of the core sets occurred through a scoping review, qualitative study, Delphi surveys, and ranking exercises to identify the most relevant domains. A virtual e-module was developed to enable members of the OMERACT community to discuss and vote for endorsement of the OMERACT CPPD core domain sets.

Results: The core domains for chronic …


Cytosine Base Editing Of Lpa In Transgenic Mice Averts Large Deletions, Marcel A Chuecos, So Hyun Park, Madhvi M Bhakta, Usosa Too-Chiobi, Daniel Betancourth, Mingming Cao, Marco De Giorgi, Christopher J Walkey, Anjana Tiwari, Biana Godin, Julia M Assini, Donna J Palmer, Philip Ng, Michael B Boffa, Marlys L Koschinsky, Gang Bao, William R Lagor Jun 2026

Cytosine Base Editing Of Lpa In Transgenic Mice Averts Large Deletions, Marcel A Chuecos, So Hyun Park, Madhvi M Bhakta, Usosa Too-Chiobi, Daniel Betancourth, Mingming Cao, Marco De Giorgi, Christopher J Walkey, Anjana Tiwari, Biana Godin, Julia M Assini, Donna J Palmer, Philip Ng, Michael B Boffa, Marlys L Koschinsky, Gang Bao, William R Lagor

Faculty, Staff and Students Publications

Lipoprotein(a) (Lp(a)) is a genetically determined causal risk factor for cardiovascular disease, with approximately 20% of the population exhibiting elevated levels. While there are promising drugs in development, there are currently no approved therapies specifically designed to lower Lp(a) levels. For high-risk individuals with extreme levels of Lp(a), liver-directed genome editing could be an effective one-time solution. Genome editing approaches such as CRISPR and TALENs can reduce Lp(a) in LPA-transgenic mouse models, but they frequently induce large and potentially harmful genomic deletions. Here, we report the first application of TadA-derived cytosine base editing (CBE), delivered via helper-dependent adenovirus (HDAdV) and …


Complement Activation In Maternal And Placental Pathology Of Preeclampsia, Manu T Banadakoppa, Madhulatha S Chauhan, Moises J Tacam, Allyson W Nevins, Antonio H Ruano, Simone H Ruano, Jon A Fuson, Chandra Yallampalli Jun 2026

Complement Activation In Maternal And Placental Pathology Of Preeclampsia, Manu T Banadakoppa, Madhulatha S Chauhan, Moises J Tacam, Allyson W Nevins, Antonio H Ruano, Simone H Ruano, Jon A Fuson, Chandra Yallampalli

Faculty, Staff and Students Publications

Background: Preeclampsia is a multifactorial, pregnancy-related disorder characterized by new-onset hypertension and proteinuria, with distinct early- and late-onset forms. Although complement dysregulation has been implicated in the pathogenesis of preeclampsia, its causal role remains unclear. In mice, Crry (complement receptor 1-related protein Y) functions as a critical complement regulator at the fetal-maternal interface. Because complete Crry deficiency is embryonically lethal, direct in vivo investigation of complement activation in pregnancy has been challenging.

Methods: We generated a placenta-specific, doxycycline-inducible short hairpin RNA mouse model in which Crry expression can be downregulated in a dose-dependent manner. This system employs Cyp19-driven Cre recombinase …


Screen-Based Simulation Assessment For Emergency Medicine Learners: A Rapid Review, Patrick Zeniecki, Rebecca Kamens, Jared Kilpatrick, Dimitrios Papanagnou, Xiao C. Zhang Jun 2026

Screen-Based Simulation Assessment For Emergency Medicine Learners: A Rapid Review, Patrick Zeniecki, Rebecca Kamens, Jared Kilpatrick, Dimitrios Papanagnou, Xiao C. Zhang

Department of Emergency Medicine Faculty Papers

BACKGROUND: Simulation has played a vital role in training medical professionals. The COVID-19 Pandemic has highlighted the need for physically distant educational assessment methods. Screen-based simulation (SBS) demonstrates one alternative to traditional in-person simulation methods to assess learners clinical reasoning and communication skills. This study aims to compare in-person simulation to SBS as assessment methods in Emergency Medicine (EM).

METHODS: A rapid review literature search methodology of an electronic database (PubMed) was performed in February 2022 with search terms such as "Computer Simulation," "Patient Simulation," "Simulation Training," "Education, Distance," "Virtual OSCE," "Academic Performance," or "Emergency Medicine." Reference lists of relevant …


Life Sustaining Well-Being Practices And Physiological Health Among Black Men, Dakota W. Cintron, Monique N. Golden, Jennifer M. Boylan, Julia K. Boehm, Tomiko Yoneda, Hebi Wang, Erik M. Hines, James L. Moore Iii Jun 2026

Life Sustaining Well-Being Practices And Physiological Health Among Black Men, Dakota W. Cintron, Monique N. Golden, Jennifer M. Boylan, Julia K. Boehm, Tomiko Yoneda, Hebi Wang, Erik M. Hines, James L. Moore Iii

Psychology Faculty Articles and Research

Objective

To identify culturally grounded well-being practices among Black men in midlife and examine their associations with physiological health.

Methods

Analyzing data from the 2004–2005 Midlife in the United States (MIDUS) study, we examined, 116 open-ended responses to the question, “What do you do to make your life go well?” Network topic modeling identified six topics: (1) interpersonal kindness and positive mindset; (2) caring for children; (3) practicing spirituality and faith; (4) maintaining social connections and well-being; (5) avoiding stress; and (6) meaningful work and daily activities. Topic scores, reflecting participants’ tendency to discuss these themes, predicted allostatic load and …


The Relationship Between Psychological Stress And Sars-Cov-2 Nucleocapsid-Antibody Response Following Natural Infection: Longitudinal Findings From The Aegis Study, Erika T Beidelman, Ashley Judge, David B Allison, Stephanie Dickinson, Lilian Golzarri Arroyo, Anna L M Macagno, Michael J Ricciardi, Jon Macy, Stanley Perlman, Christina Ludema, Kevin C Maki, Molly Rosenberg Jun 2026

The Relationship Between Psychological Stress And Sars-Cov-2 Nucleocapsid-Antibody Response Following Natural Infection: Longitudinal Findings From The Aegis Study, Erika T Beidelman, Ashley Judge, David B Allison, Stephanie Dickinson, Lilian Golzarri Arroyo, Anna L M Macagno, Michael J Ricciardi, Jon Macy, Stanley Perlman, Christina Ludema, Kevin C Maki, Molly Rosenberg

Faculty, Staff and Students Publications

Psychological stress can cause diminished immune response to infectious challenges. The extent this holds true during severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and the modifying effect of vaccination status is untested. We explored these relationships in a non-random sample standardized to the US adult population. Across 2178 participants in the Aegis study (2021-2022), we identified 507 eligible laboratory-confirmed SARS-CoV-2 infections. We estimated the natural log of nucleocapsid-binding antibody absorbance (N-antibody) at study visits up to 225 days following a positive SARS-CoV-2 test. Linear mixed effects models were fit to estimate the association of baseline perceived stress and, separately, …


Aphasia Therapy In An Arabic-Speaking Individual After Stroke: A Case Report, Mohammed F. Alharbi Dr Jun 2026

Aphasia Therapy In An Arabic-Speaking Individual After Stroke: A Case Report, Mohammed F. Alharbi Dr

Internet Journal of Allied Health Sciences and Practice

Purpose: This case report describes the clinical application and preliminary outcomes of Arabic-adapted Semantic Feature Analysis (SFA), Phonological Components Analysis (PCA), and Verb Network Strengthening Treatment (VNeST) in an Arabic-speaking adult with post-stroke aphasia and highlights language-specific factors that affect the adaptation of these interventions to Arabic. Methods: The participant was a 53-year-old right-handed native Arabic-speaking man who developed moderate to severe nonfluent transcortical motor aphasia after a left middle cerebral artery stroke. One month after stroke onset, he underwent assessment with the Short Aphasia Test for Gulf Arabic speakers, which showed relatively preserved auditory comprehension and repetition but marked …


Student Perceptions Of Artificial Intelligence: A Freelisting Study, Gary Kaplan, Mslis, Ahip, Jessica G. Hamilton, Mls, Rebecca Miller, Mlis, Rosemary Frasso, Phd, Cph Jun 2026

Student Perceptions Of Artificial Intelligence: A Freelisting Study, Gary Kaplan, Mslis, Ahip, Jessica G. Hamilton, Mls, Rebecca Miller, Mlis, Rosemary Frasso, Phd, Cph

Thomas Jefferson University Faculty Days

Background

Librarians typically provide guest lectures on topics in information literacy, connecting students to the scholarly literature. Hervieux & Wheatley’s Six Frames for AI Literacy emphasize the need to engage in AI discourse. As artificial intelligence changes the way students often interact with information, librarians must adjust their approach, whether changing the framing while retaining the traditional content, or changing the content. In the 2025-26 academic year, we experimented with various approaches. Here we describe a brief freelisting exercise we conducted before the lessons to surface students’ perceptions of artificial intelligence.