Digital Commons Network^™

Soluble C5b-9 (Sc5b-9) In Pediatrics-A Clinical Assessment, Ridwan B Ibrahim, Radwa Almamoun, Sarah E Sartain, Sridevi Devaraj

Faculty, Staff and Students Publications

Background: The soluble C5b-9 (sC5b-9) is a soluble form of the Terminal Complement Complex (TCC) that is released into the circulation with elevated levels, associated with increased morbidity and mortality in patients with complement-mediated inflammatory conditions. With the advent of eculizumab and ravulizumab, proper testing for diagnoses and therapeutic monitoring is warranted.

Methods: We evaluated both the analytical and clinical performance of the Quidel Microvue sC5b-9 Plus enzyme immunoassay. Analytical performance was evaluated with precision, linearity, interference studies, and correlation with a reference laboratory. Reference intervals were established using control donor samples [n = 26; median age 18.5 years (range …

The Association Between Condom Use Self-Efficacy And Condom-Decision Abdication Among College Students, Mikaela Gjoka, Madison K Firkey, Alan Z Sheinfil, Sarah E Woolf-King

Faculty, Staff and Students Publications

Objective: Condomless sex and its related consequences are a persistent problem on college campuses in the United States. This study aimed to examine the association between condom use self-efficacy and condom-decision abdication among college students, and whether this association was moderated by gender.

Participants & methods: Undergraduate college students (N = 212; 50.5% female) were recruited via Amazon Mechanical Turk as part of a larger online study that examined normative feedback for condom use.

Results: The association between condom use self-efficacy and condom-decision abdication was significantly moderated by gender (B = -0.07, p < .001), such that condom use self-efficacy was associated with condom-decision abdication in college women (B = -0.05, p < .005) but not in college men (B = .02, p = .18).

Conclusion: Findings from this study suggest that …

The Microstructure Of Metastatic Bone Lesions Suggests Tumor Mediated Alterations In Bone Mineralization, Hanwen Fan, Zhan Xu, Carla Berrospe Rodriguez, Noah Dover, Andrei Demkov, Morgan Lilly, Guillermo Aguilar, Larry J Suva, Xiang H-F Zhang, Yuxiao Zhou

Faculty, Staff and Students Publications

Breast, prostate and lung cancer cells frequently metastasize to bone, leading to disruption of the bone microstructure. This study utilized mechanical testing coupled with micro-CT imaging, digital volume correlation (DVC), and atomic force microscopy (AFM) nanomechanical testing to examine the mechanical property variations in mouse long bones (tibia) with metastatic lung cancer cell involvement, spanning from the whole-bone scale to the microstructural level. In addition, we also investigated how metastatic invasion alters the morphology of hydroxyapatite nanocrystals in bone at the nanometer scale. The biochemical composition within metastatic lesions was assessed using Raman spectroscopy and correlated with AFM mechanical testing …

Part Ii Common Questions And Misconceptions About Creatine Supplementation: What Does The Scientific Evidence Really Show?, Jose Antonio, Ann F Brown, Darren G Candow, Philip D Chilibeck, Stacey J Ellery, Scott C Forbes, Bruno Gualano, Andrew R Jagim, Chad Kerksick, Richard B Kreider, Sergej M Ostojic, Eric S Rawson, Michael D Roberts, Hamilton Roschel, Abbie E Smith-Ryan, Jeffrey R Stout, Mark A Tarnopolsky, Trisha A Vandusseldorp, Darryn S Willoughby, Tim N Ziegenfuss

Faculty, Staff and Students Publications

Creatine monohydrate supplementation (CrM) is a safe and effective intervention for improving certain aspects of sport, exercise performance, and health across the lifespan. Despite its evidence-based pedigree, several questions and misconceptions about CrM remain. To initially address some of these concerns, our group published a narrative review in 2021 discussing the scientific evidence as to whether CrM leads to water retention and fat accumulation, is a steroid, causes hair loss, dehydration or muscle cramping, adversely affects renal and liver function, and if CrM is safe and/or effective for children, adolescents, biological females, and older adults. As a follow-up, the purpose …

Using Robotic Single-Port Vnotes For Gynaecological Oncology: Omentectomy In A Patient With An Ovarian Granulosa Cell Tumor-A Case Study, Chunhua Zhang, Qing Li, Fang Fang, Xiaoming Guan

Faculty, Staff and Students Publications

Background: Robotic single-port transvaginal natural orifice transluminal endoscopic surgery (RSP-vNOTES) is an emerging minimally invasive approach that combines the advantages of robotic surgery with scarless transvaginal access. Its application in gynecologic oncology remains limited, particularly for omentectomy during ovarian cancer staging.

Methods: We present the case of a 45-year-old woman with an ovarian granulosa cell tumor (GCT) who underwent supplemental staging surgery following unilateral oophorectomy. Using a single-port robotic system via the transvaginal route, hysterectomy, right salpingo-oophorectomy, and omentectomy were performed. Key technical steps included enhanced visualization with gauze placement and use of an additional robotic arm for omental traction. …

Derivation Of Pluripotent Stem Cell Lines (Rfsci005-A, Rfsci006-A) From Siblings Harboring Identical High-Risk Complement Variants With Discordant Age-Related Macular Degeneration, Naresh Rajendran, Ajeet Singh, Wendy Runyon, Sam Hu, Ritu Kumar, Rinki Ratnapriya, Karl Csaky, Srinivasa R Sripathi

Faculty, Staff and Students Publications

Age-related macular degeneration (AMD) is a complex disease influenced by genetic and environmental factors. Variants in the complement pathway, especially in the CFH gene, increase AMD risk, yet disease severity can differ among individuals with identical high-risk genotypes. We generated induced pluripotent stem cell (iPSC) lines from siblings carrying identical high-risk complement variants but displaying discordant AMD phenotypes. These lines provide a unique platform to study epigenetic, transcriptomic, and environmental factors driving AMD heterogeneity. By comparing differentiated retinal cells, we aim to reveal mechanisms behind variable disease susceptibility and inform personalized therapies for AMD.

Common Severity-Based Definitions Of Bronchopulmonary Dysplasia Are Not Associated With Outpatient Morbidities, Robin L Mckinney, Antonia P Popova, Milenka Cuevas Guaman, Matthew J Kielt, Paul E Moore, Sharon A Mcgrath-Morrow, Joseph M Collaco

Faculty, Staff and Students Publications

Objectives: Bronchopulmonary dysplasia (BPD) is the most common complication of preterm birth, which can have life-long effects. Commonly used definitions of BPD severity are based on respiratory support at 36 weeks post-menstrual age. The utility of these definitions for tertiary referral centers outside the initial birth hospitalization is unclear.

Study design: Retrospective cohort study of infants born < 34 weeks gestation in the BPD Collaborative registry using three common definitions of BPD severity at 36 weeks post menstrual age and associated their severity with outpatient respiratory outcomes during the first 3 years of life.

Results: BPD severity by all three definitions was applied to 608 patients. Although the definitions had different distributions of BPD severity for the cohort, a majority of participants (75.7%) had moderate/Grade 2 or severe/Grade 3 BPD irrespective of the definition. Using clustered logistic …

Decreasing Barriers To The Utilization Of Cryopreserved Sperm In Male Cancer Survivors: An Expert Review And Guide, Megan V Alexander, Hailie Ciomperlik, Anna Claire Reynolds, Allyson Nevins, Luwam Ghidei, Jordan Kassab, Kevin Campbell, John Sullivan, Michael D Jochum, Laura Detti, Terri L Woodard, Larry I Lipshultz, Laurie J Mckenzie

Faculty, Staff and Students Publications

Background: Sperm cryopreservation offers male cancer patients a critical opportunity to preserve fertility prior to gonadotoxic therapy, yet utilization of banked sperm remains modest, typically under 10%. A structured understanding of barriers across the cancer survivorship continuum is needed to support patients in utilization of cryopreserved sperm in alignment with their reproductive goals.

Materials and methods: This expert review synthesizes current evidence and clinical experience to explore the multifaceted barriers to cryopreserved sperm use and propose specific solutions. Key intervention timepoints are examined, including the post-treatment fertility return visit, long-term cryopreservation while remote from family building, readiness for family building, …

Abca4-Mutant Human Retinal Organoids Sequencing Reveals Organoids Application In Inherited Retinal Diseases, Yourong Bao, Sujung Soh, Jean Li, Zhen Zuo, Salma Ferdous, Xinye Qian, Jin Li, Jiaxiong Lu, Xuesen Cheng, Anna Matynia, Yumei Li, Rui Chen

Faculty, Staff and Students Publications

In the studies of Inherited Retinal Diseases (IRDs), the knockout of traditional animal models like mice often fails to accurately replicate human phenotypes due to genetic and anatomical differences. Human retinal organoids (ROs) derived from stem cells have emerged as promising developmental models in retinal studies to delineate cell growth, but their ability to represent the characteristics of late-onset IRDs remains unclear. This study aims to validate ROs as a disease model for Stargardt's Disease (STGD) caused by ABCA4 mutations. Using single-cell RNA sequencing, ROs from 2 STGD patients were compared with healthy control-derived ROs at two developmental stages on …

Fast And Accurate Measurement Of Small Field Dosimetry Using A Novel Scintillation Detector, Yiding Han, Jingzhu Xu, Yao Hao, Baozhou Sun

Faculty, Staff and Students Publications

Background: The most used instruments for small-field dosimetry have notable limitations, including the need for correction of output factors, limited scanning speeds, and challenges in alignment for percentage depth dose (PDD) measurements, particularly for extremely small fields. However, plastic scintillation detectors (PSDs) are an attractive alternative for small-field dosimetry due to their correction-free nature, linear dose response, and fast response time.

Purpose: This study evaluates the robustness and accuracy of the dosimetric measurements using a new water-equivalent PSD in small-field dosimetry. The study also aims to report accurate measurements of output factors, profiles, and an indirect method for measuring PDD …

Meniscal Repair In The Setting Of Revision Anterior Cruciate Ligament Reconstruction: 6-Year Follow-Up Results From The Mars Cohort, Mars Group, Amanda K Haas, Robert H Brophy, Matthew J Matava, Matthew V Smith, Et Al.

2020-Current year OA Pubs

BACKGROUND: Meniscal preservation has been demonstrated to contribute to long-term knee health and has been a successful intervention in isolation and in patients with anterior cruciate ligament reconstruction (ACLR). The long-term results of meniscal repair in the setting of revision ACLR have yet to be documented.

PURPOSE: To report the incidence of meniscal repair failures at the 6-year follow-up in a cohort of patients who underwent concurrent revision ACLR and primary meniscal repair.

STUDY DESIGN: Prospective cohort study; Level of evidence, 2.

METHODS: All revision ACLRs with concomitant primary meniscal repair cases from a multicenter group between 2006 and 2011 …

Evaluating Covid-19 Severity Prediction And Immune Dynamics With Nulisaseq: Insights From The Impacc Study, Koji Abe, Tyson H Holmes, Tran T Nguyen, Seunghee Kim-Schulze, Ofer Levy, Lindsey R Baden, Esther Melamed, Lauren I R Ehrlich, Grace A Mccomsey, Rafick P Sekaly, Charles B Cairns, Elias K Haddad, Albert C Shaw, David A Hafler, Ruth R Montgomery, David B Corry, Farrah Kheradmand, Mark A Atkinson, Scott C Brakenridge, Nelson I Agudelo Higuita, Jordan P Metcalf, Catherine L Hough, William B Messer, Bali Pulendran, Kari C Nadeau, Mark M Davis, Ana Fernandez-Sesma, Viviana Simon, Monica Kraft, Chris Bime, Carolyn S Calfee, David J Erle, Joanna Schaenman, Elaine F Reed, Al Ozonoff, Bjoern Peters, Steven H Kleinstein, Alison D Augustine, Joann Diray-Arce, Patrice M Becker, Nadine Rouphael, Holden T Maecker

Faculty, Staff and Students Publications

The National Institutes of Health-funded IMPACC (IMmunoPhenotyping Assessment in a COVID-19 Cohort) evaluated longitudinal clinical and immunological features of human patients hospitalized for COVID-19. This study focuses on comparing the novel NULISAseq assay with the Olink platform using a subset of participants to assess their efficacy in predicting COVID-19 severity and understanding immune response dynamics. Our findings reveal that NULISAseq could provide superior detectability and dynamic range across various targets. Elastic net analysis demonstrated that specific proteins, including amphiregulin, effectively predict COVID-19 severity from sera at admission (samples drawn within 96 h of admission), with a test area under the …

Rationale And Design Of The Rembrandt Trial: A Phase 3 Study To Evaluate The Effect Of Obicetrapib/Ezetimibe On Coronary Plaque Characteristics, Cian P Mccarthy, Christie M Ballantyne, Ron Blankstein, Matthew J Budoff, Marc Ditmarsch, C Michael Gibson, John J P Kastelein, Ann Marie Navar, Stephen J Nicholls, Kausik K Ray, Cheerag Shirodaria, Michelle C Williams, James L Januzzi

Faculty, Staff and Students Publications

Background: Obicetrapib is a potent, selective cholesteryl ester transfer protein (CETP) inhibitor that significantly lowers low-density lipoprotein cholesterol (LDL-C). Additive reductions in LDL-C occur when obicetrapib is combined with ezetimibe. The impact of obicetrapib and ezetimibe fixed-dose combination (FDC) on coronary plaque burden is unknown. Favorable changes in noncalcified coronary atherosclerotic plaque volume (NCPV) may indicate a potential beneficial effect on atherosclerotic cardiovascular disease (ASCVD) events.

Methods: REMBRANDT is a placebo-controlled, double-blind, randomized trial designed to assess the efficacy of obicetrapib and ezetimibe FDC on coronary plaque burden. Individuals aged 45 years or older with ASCVD (imaging evidence of vascular …

A Deep Generative Model For Deciphering Cellular Dynamics And In Silico Drug Discovery In Complex Diseases, Yumin Zheng, Jonas C Schupp, Taylor Adams, Geremy Clair, Aurelien Justet, Farida Ahangari, Xiting Yan, Paul Hansen, Marianne Carlon, Emanuela Cortesi, Marie Vermant, Robin Vos, Laurens J De Sadeleer, Ivan O Rosas, Ricardo Pineda, John Sembrat, Melanie Königshoff, John E Mcdonough, Bart M Vanaudenaerde, Wim A Wuyts, Naftali Kaminski, Jun Ding

Faculty, Staff and Students Publications

Human diseases are characterized by intricate cellular dynamics. Single-cell transcriptomics provides critical insights, yet a persistent gap remains in computational tools for detailed disease progression analysis and targeted in silico drug interventions. Here we introduce UNAGI, a deep generative neural network tailored to analyse time-series single-cell transcriptomic data. This tool captures the complex cellular dynamics underlying disease progression, enhancing drug perturbation modelling and screening. When applied to a dataset from patients with idiopathic pulmonary fibrosis, UNAGI learns disease-informed cell embeddings that sharpen our understanding of disease progression, leading to the identification of potential therapeutic drug candidates. Validation using proteomics reveals …

Racial And Ethnic Disparities In Pediatric Autoimmune Encephalitis: A Systematic Review, Jennifer H Yang, Kristen S Fisher, Julia Dumcum, Sophie Zacharek, Alexandra B Kornbluh, Kelsey Poisson, Mary C Karalius, Leigh Sepeta

Faculty, Staff and Students Publications

Objectives: Health disparities and social determinants of health are increasingly recognized as important predictors for clinical outcomes in autoimmune disease. However, this is poorly studied in pediatric autoimmune encephalitis (AE).

Methods: We conducted a systematic literature review in accordance with PRISMA guidelines. Searches included Medline (Pubmed), EMBASE, and Web of Science databases from inception years to October 4, 2024. Inclusion criteria were: 1) Patients diagnosed with AE ≤ 18 years old; 2) any report of race and/or ethnicity, 3) report of specific diagnostics and disease outcomes, 4) observational cohort studies, epidemiological studies or case series/ cohort studies of n ≥ …

Standard Complete Blood Count To Predict Long-Term Outcomes In Febrile Infection-Related Epilepsy Syndrome (Fires): A Multicenter Study, Martin Guillemaud, Aurélie Hanin, James J Riviello, Mario Chavez, Ayush Batra, Megan Berry, Francesca Bisulli, Carlos Castillo-Pinto, Carla Cobos-Hernandez, Sophie Demeret, Krista Eschbach, Raquel Farias-Moeller, Madeline Fields, Nicolas Gaspard, Elizabeth E Gerard, Teneille E Gofton, Margaret T Gopaul, Matthew D Gruen, Anthony D Jimenez, Karnig Kazazian, Minjee Kim, Marwa Mansour, Lara Marcuse, Clémence Marois, Mikaela Morales, Lorenzo Muccioli, Elena Pasini, Michelle M Pham, Santiago Philibert Rosas, Aaron F Struck, Nathan Torcida, Mark S Wainwright, Ji Yeoun Yoo, Eyal Muscal, Vincent Navarro, Lawrence J Hirsch, Yichen Lai

Faculty, Staff and Students Publications

Objective: We investigated whether complete blood count (CBC) analyses during intensive care unit stay could predict 12-month outcomes in patients with cryptogenic febrile infection-related epilepsy syndrome (FIRES), a subset of new-onset refractory status epilepticus (NORSE).

Methods: Outcomes at 12 months were classified as "unfavorable" (Glasgow Outcome Score [GOS] 1-3) or "favorable" (GOS 4-5). Demographic, clinical, and serial CBC data were collected across treatment phases: (1) no immunotherapy (before initiation or no treatment), (2) first-line immunotherapy, and (3) second-line immunotherapy. For each treatment phase, predictive models stratified outcomes based on CBC features using decision tree regression, with separate models for adults …

Benchmarking Empirical Severity For The Yale-Brown Obsessive Compulsive Scale-Second Edition, Caitlin M Pinciotti, Juliana Avery, Chencheng Zhang, Josselyn S Muñoz, Dayan Berrones, Vanessa Zavala Cruz, Andrew D Wiese, Jacey L Anderberg, Renee M Frederick, Tomás Miño, Nuria Lanzagorta, Juan Camilo Restrepo, Marcos E Ochoa-Panaifo, Wayne K Goodman, James J Crowley, Eric A Storch, Matti Cervin

Faculty, Staff and Students Publications

The Yale-Brown Obsessive Compulsive Scale (Y-BOCS) is considered the primary instrument for assessing the presence and severity of obsessive-compulsive disorder (OCD). Conceptual and empirical critiques inspired the development of an updated version of the instrument, the Yale-Brown Obsessive Compulsive Scale-Second Edition (Y-BOCS-II), with a higher ceiling of OCD severity to better differentiate between severe and the most debilitating OCD presentations, among other revisions. The Y-BOCS-II has demonstrated sound psychometric properties across diverse samples. Empirically derived severity benchmarks have been proposed for the original Y-BOCS, yielding somewhat different ranges than what has been commonly used in clinical and research settings, yet …

Feasibility Of Expiratory Muscle Strength Training In Individuals With Progressive Supranuclear Palsy, Katya Villarreal-Cavazos, James C Borders, James A Curtis, Jordanna S Sevitz, Nora Vanegas-Arroyave, Michelle S Troche

Faculty, Staff and Students Publications

Introduction: Dysphagia is common among individuals with Progressive Supranuclear Palsy (PSP). Expiratory muscle strength training (EMST) is a treatment used to increase expiratory muscle force production for airway protection deficits. To our knowledge, no studies have tested EMST in this population. The objective of this study was to determine the feasibility of EMST in individuals with PSP.

Methods: Twenty-nine participants completed baseline measures of maximum expiratory pressure and underwent a trial session of EMST. EMST was considered feasible if participants were able to complete at least 10 repetitions at 30% of their maximum expiratory pressure. Qualitative analyses were also completed …

Group Concept Mapping To Develop A Salon-Based Hpv Self-Collection Intervention, Kelly N B Palmer, Namoonga M Mantina, Adebola Adegboyega, Itunu O Sokale, Kathleen Pryor, Azaria Suero-Davis, Trevon Brooks, Jennifer Hatcher

Faculty, Staff and Students Publications

Background: Black women in the US face higher cervical cancer mortality rates due to delayed diagnoses linked to lower screening rates. Contributing factors include provider bias, costs, and limited access, particularly affecting women aged 40-64. While innovative approaches like clinical and home-based HPV self-collection exist, equitable dissemination remains challenging. Distributing HPV self-collection kits in unconventional sites like hair salons may offer a solution. Using concept mapping, we gathered community insights to design a salon-based cervical cancer screening intervention.

Methods: We employed groupwisdom™ and REDCap platforms for community-based participatory intervention development. Participants included members of the Black Community Advisory Council of …

A Roadmap To Scale Up Person-Centred Care In The Hiv Response: Recommendations From A Global Consensus-Building Process, Lina Golob, Elvin H Geng, Et Al.

2020-Current year OA Pubs

INTRODUCTION: World Health Organization global normative guidance recommends person-centred care (PCC) approaches to reduce HIV-related mortality and morbidity and to improve health-related quality of life (HrQoL). However, consensus on the priority PCC elements and guidance on how different stakeholders can realize PCC principles at the health systems, service delivery and individual client-healthcare worker (HCW) levels are lacking. We conducted a global consensus-building process to define core PCC elements and develop recommendations for implementation at scale.

METHODS: We used a multi-phase process to build consensus and prioritize recommendations, consisting of a literature review, five stakeholder consultations (34-43 participants each) between July …

Brain Functional Connectivity, But Not Neuroanatomy, Captures The Interrelationship Between Sex And Gender In Preadolescents, Athanasia Metoki, Roselyne J Chauvin, Evan M Gordon, Timothy O Laumann, Benjamin P Kay, Babatunde Adeyemo, Samuel R Krimmel, Scott Marek, Anxu Wang, Andrew N Van, Noah J Baden, Vahdeta Suljic, Kristen M Scheidter, Julia Monk, Forrest I Whiting, Nadeshka J Ramirez-Perez, Deanna M Barch, Aristeidis Sotiras, Nico U F Dosenbach

2020-Current year OA Pubs

Understanding sex differences in the adolescent brain is crucial, as they relate to sex-specific neurological and psychiatric conditions. Predicting sex from adolescent brain data may reveal how these differences influence neurodevelopment. Recently, attention has shifted toward socially-identified gender (distinct from sex assigned at birth) recognizing its explanatory power. This study evaluates whether resting-state functional connectivity (rsFC), cortical thickness, or cortical volume better predicts sex and sex/gender alignment (congruence between sex and gender) in preadolescents. Using Adolescent Brain Cognitive Development (ABCD) Study data and machine learning, rsFC predicted sex more accurately (85 %) than cortical thickness (76 %) and cortical volume …

Current Practices And Trends In Surgical Decision-Making For Children With Lennox-Gastaut Syndrome: A Cross-Sectional Survey By The Pediatric Epilepsy Research Consortium, Michelle Y Chiu, Renée A Shellhaas, Et Al.

2020-Current year OA Pubs

OBJECTIVE: The objective of this study is to characterize contemporary surgical management practices and factors influencing surgical decision-making in the management of Lennox-Gastaut Syndrome (LGS) across pediatric epilepsy centers in the United States.

METHODS: A 45-item cross-sectional survey was developed and distributed to Pediatric Epilepsy Research Consortium centers. Domains included institutional demographics, surgical evaluation timing and goals, presurgical workup, procedural utilization and outcomes, and barriers to surgery. Descriptive statistics and thematic analysis were performed.

RESULTS: Thirty-two pediatric epilepsy centers participated (38% response), the majority comprising pediatric epileptologists at Level 4 National Association of Epilepsy Centers. Most centers (66%) considered surgery …

Muc15 Ectodomain Architecture Regulates Integrin Clustering To Control Cancer Metastasis, Simei Zhang, Guy M Genin, Et Al.

2020-Current year OA Pubs

Cancer metastasis is governed by physical cues at the cell-matrix interface, with matrix stiffness, ligand density, and topography established as key determinants. Here, a fourth critical factor in cancer metastasis, the architecture of the cell-surface glycocalyx is identified. Using MUC15 as a representative small glycoprotein, mathematical modeling and domain truncation experiments are combined to show that glycoprotein size distribution governs integrin adhesion states and metastatic outcomes. MUC15 localizes to focal adhesions and interact with integrins, while larger glycoproteins such as MUC1 are sterically excluded. These physical effects, rather than intracellular signaling, dictate adhesion state transitions: removing MUC15's ectodomain eliminated its …

Where, How, And How Much? A Multicenter Cohort Study Of The Relationship Across Lupus Decision-Aid Modality, Place Of Administration, Interruption And Viewing Completeness, And Patient-Reported Outcomes, Jasvinder A Singh, Mark Beasley, Larry R Hearld

Faculty, Staff and Students Publications

Objective: We assessed whether shared decision-making (SDM) and patient acceptability, feasibility, and overall satisfaction with a computerized patient decision aid (PtDA) for patients with systemic lupus erythematosus (SLE) differs by PtDA setting, modality, and the viewing experience.

Methods: Patients with SLE were invited to view a self-administered computerized SLE PtDA during regular clinic visits at 15 rheumatology clinics in an implementation trial. Patients completed a survey that included SDM measures including the decision conflict scale (DCS), Preparation for Decision Making (PDM) scale, and CollaboRATE scale, and we measured perceived patient acceptability, feasibility, and satisfaction. Patients viewed the SLE PtDA in …

Transoral Robotic-Assisted Removal Of A Submucosal Pyriform Sinus Foreign Body, Elisabeth Wenneker, Rebecca Doctor, Ari Schuman, Adam Szymanowski, Ray Wang

Faculty, Staff and Students Publications

Background: Submucosal foreign bodies of the medial pyriform sinus represent a challenge given limited visualization and difficult retraction with endoscopic approaches, and risk of injury to the recurrent laryngeal nerve with open approaches. Transoral robotic surgery (TORS) offers improved visualization and multiple working arms to facilitate retraction. We present a novel case utilizing the Da Vinci SP system for removal of an embedded fishbone of the medial pyriform sinus.

Results: An 84-year-old woman presented with five days of odynophagia and globus sensation after swallowing a fish bone. Non-contrast computed tomography scan revealed a 3.0 cm submucosal object within the post-cricoid …

Cross-Species Standardised Cortico-Subcortical Tractography, Stephania Assimopoulos, Shaun Warrington, Davide Folloni, Katherine Bryant, Ali-Reza Mohammadi-Nejad, Wei Tang, Saad Jbabdi, Sarah R Heilbronner, Rogier B Mars, Stamatios N Sotiropoulos

Faculty, Staff and Students Publications

Despite their importance for brain function, cortico-subcortical white matter tracts are under-represented in diffusion magnetic resonance imaging tractography studies. Their non-invasive mapping is more challenging and less explored compared to other major cortico-cortical bundles. We introduce a set of standardised tractography protocols for delineating tracts between the cortex and various deep subcortical structures, including the caudate, putamen, amygdala, thalamus, and hippocampus. To enable comparative studies, our protocols are designed for both human and macaque brains. We demonstrate how tractography reconstructions follow topographical principles obtained from tracers in the macaque and how these translate to humans. We show that the proposed …

Transcriptional Coregulator Zmiz1 Modulates Estrogen Responses That Are Essential For Healthy Endometrial Function, Sylvia C Hewitt, Frank Orellana, Ryan M Marquardt, Myeongjin Yi, Cynthia J Willson, Mark Y Chiang, Yong Song, Goutham Venkata Naga Davuluri, Christopher Day, Ramakrishna Kommagani, Joseph Rodriguez, Asgerally T Fazleabas, John P Lydon, Francesco J Demayo

Faculty, Staff and Students Publications

Estrogen is a critical regulator of endometrial health. Aberrant estrogen stimulation can result in infertility, endometrial cancer, and endometriosis. Here, we identified Zinc Finger MIZ-Type Containing 1 (Zmiz1) as a coregulator of uterine estrogen signaling. ZMIZ1 is colocalized with an estrogen receptor α–binding (ESR1-binding) super enhancer. ZMIZ1 mutations are found in endometrial cancer and its RNA levels trend toward reduction in endometrium of patients with endometriosis. ZMIZ1 is dynamically expressed in human endometrial tissues during the menstrual cycle. Disrupting ZMIZ1 in cultured human endometrial stromal cells resulted in impaired cell proliferation and decidual differentiation. Ablation of Zmiz1 using …

Cerebellar Purkinje Cell Stripe Patterns Reveal A Differential Vulnerability And Resistance To Cell Loss During Normal Aging In Mice, Sarah G Donofrio, Cheryl Brandenburg, Amanda M Brown, Tao Lin, Hsiang-Chih Lu, Roy V Sillitoe

Faculty, Staff and Students Publications

Age-related neurodegenerative diseases involve reduced cell numbers and impaired behavioral capacity. Neurodegeneration and behavioral deficits also occur during aging, and notably in the absence of disease. The cerebellum, which modulates movement and cognition, is susceptible to cell loss in both aging and disease. Here, we demonstrate that cerebellar Purkinje cell loss in aged mice is not spatially random but rather occurs in a pattern of parasagittal stripes. We also find that aged mice exhibit impaired motor coordination and more severe tremor compared to younger mice. However, the relationship between patterned Purkinje cell loss and motor dysfunction is not straightforward. Examination …

Fibroblasts Are The Primary Contributors To A Disrupted Micro-Environment In End-Stage Pediatric Hypertrophic Cardiomyopathy, Hanna J Tadros, Diwakar Turaga, Yi Zhao, Chang-Ru Tsai, Iki A Adachi, Xiao Li, James F Martin

Faculty, Staff and Students Publications

Background: Hypertrophic cardiomyopathy (HCM) is a relatively rare but debilitating diagnosis in the pediatric population, and patients with end-stage HCM require heart transplantation. Here, we have examined the transcriptome in ventricular tissue from this patient group to identify cell states and underlying cellular processes unique to pediatric HCM.

Methods: We performed single-nucleus RNA sequencing (snRNA-seq) on explanted hearts at transplant in 3 pediatric patients with end-stage HCM and compared findings to pediatric control and adult HCM.

Results: We identified distinct underlying cellular processes in cardiomyocytes, fibroblasts, endothelial cells, and myeloid cells compared with controls. Pediatric HCM was enriched in cardiomyocytes …

Differential Microrna Profiling Of Blood L1cam And Bulk Extracellular Vesicles In Bipolar Disorder, Gabriel R Fries, Salahudeen Mirza, Jun Wang, Camila N C Lima, Wei Zhang, Marcela Carbajal Tamez, Giselli Scaini, Jair C Soares, Joao Quevedo

Faculty, Staff and Students Publications

Objective: This preliminary study aimed to identify microRNA (miRNA) signatures associated with bipolar disorder (BD) by profiling blood-derived extracellular vesicles (EVs) of both putative neuronal origin and from all sources.

Method: In two parallel studies of individuals with BD and controls (CON), we characterized miRNA expression profiles of blood EVs selected for L1CAM, a putative marker of neuronal origin (n = 20 BD/20 CON), as well as bulk EVs (n = 21 BD/20 CON). For each study, analyses identified miRNAs differentially expressed between groups, followed by functional interrogation and testing for associations with clinical features.

Results: Results of …