Medicine and Health Sciences Commons^™

Variability In The Orthopaedic Residency Trainee Trauma Surgical Experience, Todd Phillips, Benjamin Fiedler, Joshua T Morrow, Zbigniew Gugala, Melvyn Harrington, Douglas R Dirschl

Faculty, Staff and Students Publications

Background: The aim of this study was to analyze fracture fixation case logs from residents training at a level 1 trauma center to assess variability across residents' surgical experiences within a single residency program. The authors hypothesize that notable variability exists between residents' surgical experiences in fracture care.

Methods: A retrospective case series was conducted at a single, urban residency program with a level 1 trauma center. Completed case logs were collected from program graduates from 2022 to 2024. All surgical cases involving fracture fixation at the level 1 trauma center were included for analysis. The anatomic region of the …

Empiric Azithromycin Alters The Upper Respiratory Microbiome And Resistome Without Anti-Inflammatory Benefit In Covid-19, Abigail Glascock, Cole Maguire, Hoang Van Phan, Emily C Lydon, Joanna Schaenman, Carolyn S Calfee, Esther Melamed, John Greenland, David B Corry, Farrah Kheradmand, Lindsey R Baden, Rafick Sekaly, Grace A Mccomsey, Elias K Haddad, Charles B Cairns, Linda N Geng, Bali Pulendran, Ana Fernandez-Sesma, Viviana Simon, Jordan P Metcalf, Nelson I Agudelo Higuita, William B Messer, Mark M Davis, Kari C Nadeau, Monica Kraft, Christian Bime, David J Erle, Mark A Atkinson, Scott C Brakenridge, Lauren I R Ehrlich, Ruth R Montgomery, Albert C Shaw, Catherine L Hough, David A Hafler, Alison D Augustine, Patrice M Becker, Bjoern Peters, Al Ozonoff, Annmarie Hoch, Seunghee Kim-Schulze, Florian Krammer, Steven Bosinger, Walter Eckalbar, Matthew C Altman, Michael Wilson, Leying Guan, Holden Maecker, Hanno Steen, Impacc Network, Joann Diray-Arce, Nadine Rouphael, Steven H Kleinstein, Naresh Doni Jayavelu, Elaine F Reed, Ofer Levy, Victoria T Chu, Charles R Langelier

Faculty, Staff and Students Publications

Azithromycin is a widely used antibiotic and was frequently used to treat hospitalized patients during the COVID-19 pandemic. The impact of empiric azithromycin use on the respiratory microbiome in patients with viral respiratory infections is unclear. Here we used longitudinal metatranscriptomics on nasal swabs from a prospective multicentre cohort of 1,164 patients hospitalized for COVID-19. We compared the upper respiratory microbiome, resistome and systemic immune response in patients treated with azithromycin (n = 366) with those who received no antibiotics (n = 474) or other antibiotics (n = 324). We found that azithromycin altered microbiome composition and increased the expression …

Body Mass Index And Survival In Children Receiving Extracorporeal Membrane Oxygenation, Pilar Anton-Martin, Keith Baxelbaum, Shilpa Vellore, Erika O'Neil, Vinai Modem, Sameer Thadani

Faculty, Staff and Students Publications

Importance: Underweight and obesity represent opposite ends of the nutritional risk spectrum that negatively affect children's health worldwide. Both conditions have been associated with increased mortality in pediatric patients receiving extracorporeal membrane oxygenation (ECMO) support.

Objective: To investigate the association of underweight and obesity status with pediatric ECMO outcomes using body mass index (BMI) z scores.

Design, setting, and participants: This retrospective cohort analysis used data from the Extracorporeal Life Support Organization (ELSO) database from January 1, 2019, to December 31, 2023. Participants included all pediatric patients from international ECMO centers aged 29 days to 18 years who received ECMO …

The Association Between Physical Activity, Sedentary Time, And Sleep With Risk Of Hepatocellular Carcinoma In Patients With Cirrhosis, Samuel Ma, Yossef Alsabawi, Fasiha Kanwal, Hao Duong, Laith Elserag, Amit G Singal, Nicole E Rich, Saira Khaderi, Sumeet K Asrani, Hashem B El-Serag, Aaron P Thrift

Faculty, Staff and Students Publications

Background: The majority of hepatocellular carcinoma (HCC) cases arise in patients with cirrhosis, with known major risk factors of hepatitis B (HBV) or C (HCV) infection, metabolic dysfunction-associated steatotic liver disease (MASLD), and alcohol-associated liver disease (ALD). However, the impact of additional risk factors that act independently or jointly on the pathogenesis of HCC in cirrhosis patients is unknown. The aim of this study was to determine whether sleep, sedentariness, or physical activity levels play a role in the progression of cirrhosis to HCC.

Methods: We systematically collected data on sleep, sedentary time, and physical activity from the ongoing prospective …

Driveline Infections Among Patients Supported With Left Ventricular Assist Devices: A Single Center Sixteen-Year Longitudinal Profile, Anh Nguyen, Alexis Shafii, Gabriel Loor, Andrew Civitello, O Howard Frazier, Todd Rosengart, Kenneth Liao

Faculty, Staff and Students Publications

Background: Left ventricular assist device (LVAD) driveline infections significantly impact patient outcomes. This study aimed to identify their risk factors.

Methods: We analyzed LVAD data from our institutional Intermacs database (January 1, 2008-December 31, 2023), combining primary implants and pump exchanges. Patient characteristics were summarized as frequencies for categorical variables and median (IQR) for continuous variables. The nature of repeated infection events was handled by the Andersen-Gill method within a multivariable Cox proportional hazards model for cause-specific hazard of driveline infections, accounting for death and heart transplant as competing risks.

Results: Our cohort included 1026 LVAD implants. Median patient age …

Complement Anaphylatoxin C5a-Induced Mouse Lymphatic Functions Modulate Interactions Between Endothelial Cells And T Lymphocytes, Haydn E Rich, Yi-Dong Li, Kathryn D Hok, Stacey L Mueller-Ortiz, Aleksey Y Domozhirov, Anthony Shadid, Rajarajan A Thandavarayan, Hari Krishna Yalamanchili, Marie-Francoise Doursout, Tingting Weng-Mills, Faraz Bishehsari, Nirmal K Banda, Kristin L Eckel-Mahan, Marcos I Restrepo, Pooja Shivshankar

Faculty, Staff and Students Publications

The lymphatic system is a highly branched endothelial tubular network that facilitates the migration of immune cells from the peripheral tissues to lymph nodes (LNs) and other lymphoid organs. Complement factors are essential for innate and adaptive immune functions. Complement anaphylatoxin C5a is crucial in vascular endothelial cell activation and lymphocyte polarization. Understanding the impact of C5a and its cognate receptor C5ar1 signaling on lymphatic function could provide new insights into the mechanisms of immune dysregulation observed in chronic inflammatory diseases. We demonstrate that acute C5a challenge in wildtype C57B6/J mice significantly reduced lymph propulsion compared to their C5ar1-deficient counterparts. …

Fronto-Cerebellar Features Associate With Cognitive Dysfunction In Childhood-Onset Systemic Lupus Erythematosus, Hanne Van Der Heijden, Gabrielle Alonzi, Amanda Cao, Raquel Van Gool, Merve Koç Yekedüz, Lise Vrolix, Itamar Ronen, Vanessa Rameh, Kyle Mcbrearty, Aditi Deokar, Robert P Sundel, Eyal Muscal, Joseph Gonzalez-Heydrich, Andrea Knight, Joyce C Chang, Jaymin Upadhyay

Faculty, Staff and Students Publications

Objective: Cognitive dysfunction (CD) is a prevalent symptom in childhood-onset systemic lupus erythematosus (cSLE). This study aimed to investigate the neurobehavioral basis of CD in cSLE.

Methods: Patients with cSLE (N=20) and age- and sex-matched healthy controls (HCs, N=20) completed questionnaires and multiple neurocognitive tests. The Systemic Lupus Erythematosus Disease Activity Index 2000 and laboratory markers were used to monitor patients' clinical status. Neuroimaging assessments included functional near-infrared spectroscopy (fNIRS), functional magnetic resonance imaging (fMRI), and structural MRI.

Results: cSLE patients demonstrated moderate disease activity with high inflammation and immune dysregulation, alongside low medication adherence. Relative to HCs, cSLE patients …

Cardiovascular Outcomes With Icosapent Ethyl By Burden Of Standard Modifiable Cardiovascular Risk Factors In Reduce-It, Rahul Aggarwal, Deepak L Bhatt, Michael Miller, Christie M Ballantyne, Eliot A Brinton, Terry A Jacobson, Steven B Ketchum, Jean-Claude Tardif, Matthew J Budoff, Gemma A Figtree, Ph Gabriel Steg

Faculty, Staff and Students Publications

No abstract provided.

Advanced Artificial Intelligence Vs Simpler Models For 1-Year Death Prediction Among Patients Receiving Hemodialysis, Karthikeyan K, Jennifer E Flythe, Patrick H Pun, Wolfgang C Winkelmayer, David Carlson

Faculty, Staff and Students Publications

Objectives: We evaluated the data requirement for modern AI tools to outperform simpler models in predicting short-term mortality in over 500 000 patients with hemodialysis-dependent kidney failure.

Materials and methods: We compared logistic regression, boosting, and transformers using increasingly complex feature sets (from last-visit data to full trajectories). Performance was measured using the area under the ROC curve (AUC-ROC) and the Precision-Recall curve (AUC-PR) across training data sizes ranging from 500 to 490 197 samples.

Results: Using features with temporal information is beneficial across all models. On the full dataset, Transformers (AUC-ROC = 0.8568) and boosting (AUC-ROC = 0.8598) perform …

Aht Diagnoses: The Influences Of Clinical Presentation And Evidence Of Impact, Ruairi Smith-Dewey, Angela Bachim, Colleen Bressler, Kristine Campbell, Lori Frasier, Christopher Greeley, Danielle Horton, Nicole Johnson, Jan Leonard, Megan M Letson, Caitlin Mcnamara, Ashley Sherman, Shalon Nienow, Stuart Sommers, Joanne N Wood, James Anderst

Faculty, Staff and Students Publications

Background: The frequency of abusive head trauma (AHT) diagnoses by child abuse pediatricians (CAPs), especially regarding external evidence of head impact, has been questioned.

Objectives: To compare CAP diagnoses in subjects with subdural hemorrhage (SDH) across clinical presentations, including subgroups with and without external evidence of head impact. Additionally, we aimed to describe subjects with SDH and concomitant suspicious injuries (CSI) without evidence of head impact.

Participants and setting: Multicenter retrospective study including subjects < 24 months old with SDH.

Methods: Subjects were divided into groups based on clinical presentations: Ill SDH only, Non-ill SDH only, and SDH + CSI. Groups were subcategorized based on presence/absence …

Trauma-Related Compulsions In Obsessive-Compulsive Disorder: Functional Insights From Factor Analysis, Caitlin M Pinciotti, Max Thorsson, Gregor Horvath, Matti Cervin

Faculty, Staff and Students Publications

Resisting obsessive-compulsive disorder (OCD) compulsions is a key predictor of exposure and response prevention (ERP) effectiveness, yet trauma-exposed individuals with OCD endorse more severe compulsions and are more likely to be labelled 'treatment resistant.' Among trauma-exposed individuals, compulsions are theorised to function to prevent future trauma and cope with trauma-related responses. Recent findings suggest that certain compulsions in the context of trauma exposure differentially impact treatment outcomes, yet missing from extant literature is a larger empirically derived conceptualisation for how trauma may impact the underlying function of compulsions. In a sample of 662 adult patients enroled in intensive OCD treatment …

The Impact Of Estrogen Replacement During Perimenopause On Lung Function And Airway Inflammation In The Vcd Mouse Model, William P Pederson, Laurie Michelle Ellerman, Riley D Hellinger, Joselyn Joanna Rojas Quintero, Francesca Polverino, John P Konhilas, Julie G Ledford

Faculty, Staff and Students Publications

Background:

Menopause associated asthma impacts a subset of women and is less responsive to current treatments. Mechanisms driving this late onset asthma are unknown. We recently developed a mouse model of menopause associated asthma using a combination of 4-Vinylcyclohexene Diepoxide (VCD) and House Dust Mite (HDM) exposures. The goal of this study was to determine how hormone replacement therapy during perimenopause impacts lung function and inflammation.

Methods:

The experimental groups included menopausal mice (VCD) with and without exposure to HDM (to model allergic airways disease) and menopausal mice with and without hormone replacement therapy (HRT; via estrogen pellet implantation). Lung …

Author Correction: Foundation Model Of Neural Activity Predicts Response To New Stimulus Types, Eric Y Wang, Paul G Fahey, Zhuokun Ding, Stelios Papadopoulos, Kayla Ponder, Marissa A Weis, Andersen Chang, Taliah Muhammad, Saumil Patel, Zhiwei Ding, Dat Tran, Jiakun Fu, Casey M Schneider-Mizell, R Clay Reid, Forrest Collman, Nuno Maçarico Da Costa, Katrin Franke, Alexander S Ecker, Jacob Reimer, Xaq Pitkow, Fabian H Sinz, Andreas S Tolias

Faculty, Staff and Students Publications

This corrects the article "Foundation model of neural activity predicts response to new stimulus types" in volume 640 on page 470.

Functional Bipartite Invariance In Mouse Primary Visual Cortex Receptive Fields, Zhiwei Ding, Dat Tran, Kayla Ponder, Zhuokun Ding, Rachel Froebe, Lydia Ntanavara, Paul G Fahey, Erick Cobos, Luca Baroni, Maria Diamantaki, Eric Y Wang, Andersen Chang, Stelios Papadopoulos, Jiakun Fu, Taliah Muhammad, Christos Papadopoulos, Santiago A Cadena, Alexandros Evangelou, Konstantin Willeke, Fabio Anselmi, Sophia Sanborn, Jan Antolik, Emmanouil Froudarakis, Saumil Patel, Edgar Y Walker, Jacob Reimer, Fabian H Sinz, Alexander S Ecker, Katrin Franke, Xaq Pitkow, Andreas S Tolias

Faculty, Staff and Students Publications

Sensory systems support generalization by representing features that persist under input variation; however, identifying the neuronal basis of these invariances remains difficult due to high-dimensional and nonlinear neural computations. Here we leverage the inception loop paradigm, iterating between large-scale recordings, predictive models and in silico experiments with in vivo verification, to characterize neuronal invariances in mouse primary visual cortex (V1). We synthesize varied exciting inputs (VEIs), dissimilar images that drive target neurons. These VEIs revealed a new bipartite invariance: one subfield encodes a shift-tolerant high-frequency texture and the other encodes a fixed low-frequency pattern. This division aligns with object boundaries …

Dominant Clones Leverage Developmental Epigenomic States To Drive Ependymoma, Alisha S Kardian, Hua Sun, Siri Ippagunta, Nicholas Laboe, Srinidhi Varadharajan, Kwanha Yu, Hsiao-Chi Chen, Erik Emanus, Tuyu Zheng, Riley M Deneen, Jon P Connelly, Yong-Dong Wang, Jiangshan Zhan, Hengxi Liu, Kimberley Lowe, Taylor Bugbee, Rakesh Pathak, Amanda Bland, Sanya Mehta, Sophie Cochiolo, Amir Arabzade, Blake Holcomb, Kaitlin M Budd, Gabriele Kembuan, Tristen Wright, Emma Caesar, Maxwell Park, Amelia Hancock, David Gee, Joel Murdoch, Yi Xiao, Samuel K Mcbrayer, Thomas E Merchant, Jun Qi, Adam D Durbin, Lindsay A Schwarz, Li Wang, Andrew M Donson, Nicholas K Foreman, Sameer Agnihotri, Alfonso Lavado, Suzanne J Baker, David W Ellison, Hyun Kyoung Lee, Shondra M Pruett-Miller, Kelsey C Bertrand, Benjamin Deneen, Stephen C Mack

Faculty, Staff and Students Publications

ZFTA–RELA is the most recurrent genetic alteration seen in paediatric supratentorial ependymoma (EPN) and is sufficient to initiate tumours in mice1. Despite its oncogenic potential, ZFTA–RELA (ZR) is observed nearly exclusively in childhood EPN, with tumours located distinctly in the supratentorial brain of the central nervous system1. We proposed that specific chromatin modules accessible during brain development would render distinct cell lineage programs at direct risk of transformation by ZR. To test this hypothesis, we performed combined single-nucleus assay for transposase-accessible chromatin and RNA (snMultiome) sequencing of the developing mouse forebrain compared with ZR-driven mouse …

Da Vinci Single-Port Transvaginal Natural Orifice Transluminal Endoscopic Surgery (Vnotes) Sacrocolpopexy: A Case Report And Literature Review, Xiaoming Guan, Chunhua Zhang, Qiannan Yang, Shunjia Hong, Wai Ieng Fong

Faculty, Staff and Students Publications

Pelvic organ prolapse remains a common condition requiring durable surgical correction, with sacrocolpopexy considered the gold standard. Transvaginal natural orifice transluminal endoscopic surgery (vNOTES) has emerged as a scarless minimally invasive approach, while the integration of robotic single-port technology may further enhance surgical precision and ergonomics. However, data on robotic-assisted single-port vNOTES (RSP-vNOTES) sacrocolpopexy remains limited. We report a case of a 58-year-old Asian woman with symptomatic apical pelvic organ prolapse. The pelvic organ prolapse quantification (POP-Q) assessment demonstrated stage II uterine prolapse. She underwent robotic-assisted single-port vNOTES (RSP-vNOTES) sacrocolpopexy using the da Vinci single-port (SP) platform. The procedure was …

Robotic Single-Incision Laparoscopic Surgery For The Management Of Endometriosis: First Experience Via The Da Vinci Sp Platform, Qiannan Yang, Daniel Y Lovell, Xiaoming Guan

Faculty, Staff and Students Publications

Objective: To demonstrate the feasibility and mid-term outcomes of Robotic single-port single-incision laparoscopic surgery (RSP-SILS) for endometriosis management.

Methods: A retrospective analysis was conducted on 50 adult women with endometriosis who underwent RSP-SILS via the da Vinci SP platform between November 2023 and July 2025.

Results: Median total operative time was 142 min, robot dock time was 3 min, and robot console time was 99 min. Median estimated blood loss was 25 mL. No conversion occurred. Reported mid-term outcomes included 1 case each of pelvic haematoma, Clostridioides difficile colitis, and umbilical surgical site infection, as well as 3 cases of …

Robotic-Assisted Transumbilical Single-Site And Transvaginal Notes Resection Of Abdominal Wall Cesarean Scar Endometriosis: Two Case Reports, Xiaoming Guan, Qiannan Yang, Victoria Zhang, Chunhua Zhang

Faculty, Staff and Students Publications

No abstract provided.

A Comprehensive Review Of Tear Fluid Proteome Alterations In Dry Eye Disease: Insights Into Pathophysiology And Biomarker Potential, Saleh Ahmed, Steven Safille, Victoria Clifton, Shruti Sharma, Cintia S De Paiva, Ashok Sharma

Faculty, Staff and Students Publications

Tear fluid is a highly specialized and dynamic biofluid composed of proteins, lipids, mucins, and electrolytes that is essential for maintaining ocular surface integrity, immune defense, and tear film stability. Growing evidence from tear proteomic studieshas revealed extensive alterations in protein composition in dry eye disease (DED), reflecting a complex interplay between local ocular surface pathology and systemic inflammatory influences. This review summarizes proteomic findings from 50 published studies to identify tear proteins that are consistently upregulated or downregulated in DED and to interpret their biological relevance in the context of ocular surface homeostasis. Across studies, proteins upregulated in DED …

Comprehensive Profiling Of The Human Tear Fluid Mirnome Using Small Rna Sequencing, Garrett Jones, Drew Mayernik, Saleh Ahmed, Eliza Williams, Jeremy Altman, Tae Jin Lee, Amy Estes, Cintia S De Paiva, Pamela Martin, Shruti Sharma, Ashok Sharma

Faculty, Staff and Students Publications

Purpose: To generate a comprehensive profile of microRNAs (miRNAs) present in human tear fluid using next-generation sequencing (NGS), establish a reference miRNome for healthy human tear fluid, and investigate whether miRNA expression varies by sex, race, or age.

Methods: Tear samples were collected from 32 adults using Schirmer strips. RNA was isolated using the miRNeasy Serum/Plasma Kit, and cDNA libraries were prepared using the QIAseq miRNA Library Kit. Barcoded libraries were sequenced on the NovaSeq 6000 platform. Bioinformatic analyses included adapter trimming, alignment to miRBase, normalization with DESeq2, and functional annotation using multiMiR and clusterProfiler. Differential expression analysis was performed …

Novel Variants Identified In Families With Snx27 -Related Neurodevelopmental Disorder, Aiding In Characterizing Its Genotypic And Phenotypic Spectrum, Tayyaba Shan, Abrar Hussain, Anushree Acharya, Mulazim Hussain, Yumei Li, Hafiz Muhammad Jafar Hussain, Kiran Afshan, Suzanne M Leal, Rui Chen, Asif Mir, Isabelle Schrauwen, Sabika Firasat

Faculty, Staff and Students Publications

Background:

Sorting Nexin 27 (SNX27), a key regulator of synaptic receptor trafficking and endosomal recycling, has been implicated in maintaining synaptic homeostasis and cognitive function. To date, variants in SNX27 have been reported in a small number of patients across three publications with severe neurodevelopmental phenotypes. However, the genetic and functional landscape of SNX27-related disorders remains poorly understood, and further evidence is needed to confirm its association with disease and to better delineate the associated phenotype.

Methods and Results:

Two unrelated Pakistani families with a total of five affected individuals segregating a neurodevelopmental disorder were investigated via exome …

Serological Evidence Of Borrelia Turicatae In Raccoons (Procyon Lotor) From An Endemic Focus Of Tick-Borne Relapsing Fever In Mexico, Jose A Hernández Martínez, Valeria Leal-Sepúlveda, Alan A Zavala-Norzagaray, Emilio Rendón-Franco, César P Ley-Quiñonez, Patricio Pellegrini-Hernández, Job E Lopez, J Antonio Ibarra

Faculty, Staff and Students Publications

Tick-borne relapsing fever is a neglected and overlooked disease. In Mexico, numerous historical reports document the distribution of Ornithodoros turicata, the vector of Borrelia turicatae, as well as human cases of infection. However, the enzootic cycle and reservoir hosts in Mexico remain unknown. Here, to detect previous infections with relapsing fever Borreliae in wild fauna a retrospective serological analysis was conducted with serum samples collected from raccoons trapped from 2022 to 2025 in the Navachiste region of Sinaloa, Mexico. Using a species-specific antigen, BipA from B. turicatae, and bacterial lysates of this spirochete, we found high exposure among this cohort …

Effect Of Different Management Strategies On Outcomes In Subarachnoid Neurocysticercosis: A Descriptive, Multicentre, Retrospective Cohort Study In The Usa, Janitzio J Guzmán, Megan M Duffey, Jill Weatherhead, Eva H Clark, Jesica Herrick, Senate Amusu, Felicia C Chow, Paul R Allyn, Noah Wald-Dickler, J Martin Rodriguez, Natalie M Bowman, Timothy J Hatlen, Dannae Martin, Travis Larsen, Anna M Cervantes-Arslanian, Christina Coyle, A Clinton White, Elliott Welford, Annie N Cowell, Jeffrey D Jenks, Andrés F Henao-Martinez, Carlos Franco-Paredes, Glenn Mathisen, Paola Lichtenberger, Jose A Serpa, Rory Bouzigard, Laila M Castellino, Elise M O'Connell

Faculty, Staff and Students Publications

Background: Subarachnoid neurocysticercosis (SANCC) is an uncommon but severe form of Taenia solium infection. There is limited evidence to guide clinical management. We aimed to describe the clinical and laboratory features of a cohort of patients with SANCC, and assess the impact of different management strategies on their clinical course.

Methods: We performed a multicentre retrospective cohort study with patients from 15 medical centres across nine states in the USA. SANCC was defined based on histopathology; the presence of cysts in the basilar subarachnoid spaces/sylvian fissures/spine with antibody positivity to T. solium/meeting Del Brutto criteria; or inflammatory cerebrospinal fluid …

Widespread Distribution Of Alu/Alu-Mediated Genomic Rearrangement Predisposing To A Broad Range Of Mendelian Disease And Cancer In Human Populations, Ruizhi Vince Duan, Haowei Du, Shruti Pande, Ahmed K Saad, Meryem M Atik, Minal Jamsandekar, Karen J Coveler, Zain Dardas, Shalini N Jhangiani, Jennifer E Posey, Richard A Gibbs, James R Lupski

Faculty, Staff and Students Publications

Background

Genome-wide distributions of Alu elements contribute to a broad range of structural variants (SVs) through Alu/Alu-mediated genomic rearrangement (AAMR). Yet, the prevalence and characteristics of AAMR on the human genome and its scale in generating pathogenic SVs remain poorly understood.

Methods

We established a disease-focused, AAMR-SV dataset and a control dataset to comprehensively delineate the genomic landscape of Alu mutagenesis. The disease-focused dataset included 407 published pathogenic AAMR-SV alleles in 115 known genes for Mendelian disorders or traits through a literature survey. A control dataset was collected from short-read genome sequencing analyses of 100 randomly selected, healthy individuals. …

Avacincaptad Pegol For Geographic Atrophy Secondary To Age-Related Macular Degeneration: Two-Year Efficacy And Safety Results From The Gather2 Phase 3 Trial, Arshad M Khanani, Carl J Danzig, Jeffrey S Heier, Glenn J Jaffe, Peter K Kaiser, David R Lally, Sunil S Patel, Lejla Vajzovic, Christina Y Weng, Hersh Patel, Julie Clark, Dhaval Desai, Don Luo, Erin Henry, Frank G Holz

Faculty, Staff and Students Publications

Purpose: Avacincaptad pegol (ACP) is a pegylated RNA aptamer that inhibits complement C5. The efficacy and safety of ACP 2 mg was investigated in GATHER2, with positive year 1 results published. Herein, 2-year results are reported.

Design: Phase 3, randomized, sham-controlled study (ClinicalTrials.gov identifier, NCT04435366).

Participants: Patients with non-center point-involving geographic atrophy (GA).

Methods: Eligible patients were randomized 1:1 to receive monthly ACP 2 mg (n = 225) or sham (n = 222) for 1 year. At month 12, patients who received ACP 2 mg were randomized again 1:1 to dosing every month (EM; n = 96) or every …

Utility Of Diagnostic Arthroscopy Before Medial Patellofemoral Ligament Reconstruction In Pediatric And Adolescent Patients Without Articular Findings On Magnetic Resonance Imaging, Holden Archer, Kaleb Patterson, Jonathan D Schwartzman, Scott D Mckay, Indranil Kushare

Faculty, Staff and Students Publications

BACKGROUND: Medial patellofemoral ligament (MPFL) reconstruction is frequently used to manage recurrent patellar instability. Diagnostic arthroscopy is commonly performed before MPFL reconstruction to identify, confirm, and address intra-articular pathology. However, when preoperative magnetic resonance imaging (MRI) does not demonstrate intra-articular lesions, it is unclear how often diagnostic arthroscopy in pediatric patients alters surgical management.

PURPOSE: To determine the utility of diagnostic arthroscopy in young patients undergoing MPFL reconstruction who had no intra-articular chondral or osteochondral pathology, meniscal tears, or loose bodies identified on preoperative MRI, and to characterize intra-articular pathology detected on arthroscopy but not identified on MRI.

STUDY DESIGN: …

Feasibility Of A Large Language Model Chatbot To Support Parental Understanding In The Picu, R Brandon Hunter, Satid Thammasitboon, Sreya Rahman, Sriya Kakarla, Pamela Petersen, Shelley Kumar, Thomas Rappold, Sanjiv Mehta

Faculty, Staff and Students Publications

Objectives: To evaluate the feasibility of a large language model (LLM)-based chatbot for answering parental questions in the PICU and inform design of a randomized controlled trial (RCT).

Design: Prospective single-arm feasibility study conducted from August 2024 to December 2024.

Setting: Quaternary PICU.

Subjects: Fourteen parents of children admitted to the PICU.

Interventions: Parents engaged in 10-minute sessions with a HIPAA-compliant GPT-4o- (Generative Pretrained Transformer 4o, OpenAI, San Francisco, CA) based chatbot prompted with patient-specific electronic health record (EHR) data.

Measurements and main results: Feasibility was assessed through four criteria: parental engagement and satisfaction, provider perceptions, accuracy and safety, and …

Development And Internal Validation Of A Pretransplant Biomarker Panel For Mortality Prediction Following Liver Transplant, Guergana G Panayotova, Sopio Simonishvili, Lianhua Jin, Duc T Nguyen, Edward A Graviss, Yong Qin, Anastasia Xynogala, Tumininu Ayorinde, Laurie J Minze, Alexander Lemenze, Krupa R Mysore, Julie M Corkrean, Linda W Moore, Flavio Paterno, Ashish Saharia, Constance M Mobley, Arpit Amin, Mark J Hobeika, Xian C Li, Paul J Gaglio, R Mark Ghobrial, James V Guarrera, Keri E Lunsford

Faculty, Staff and Students Publications

Importance: Current pretransplant clinical scoring systems fail to accurately estimate post-liver transplant (LT) survival, making recipient selection challenging. Persistent immune dysfunction contributes to early LT recipient mortality but is not captured by existing models.

Objective: To identify plasma biomarkers of pretransplant immune dysfunction and to develop a biomarker-based pre-LT risk stratification tool to predict post-LT mortality.

Design, setting, and participants: Prospective biomarker analysis of consecutively enrolled adult LT recipients was conducted. Healthy controls were included for baseline comparison. Patients undergoing LT at Houston Methodist Hospital (October 1, 2013, to December 31, 2017) and Rutgers/University Hospital (January 1, 2019, to March …

Physiological Peristaltic-Like Reactions Of The Tracheobronchial Tree Move Pulmonary Mycobacterium Tuberculosis Bacilli Into The Gastrointestinal Tract, Andrew R Dinardo, George W Kasule, Alberto L Garcia-Basteiro, Stool4tb Global Partnership

Faculty, Staff and Students Publications

No abstract provided.

Glp1-Ra And Sglt2-I: Implementation And Insulin Deescalation Strategies, Arthi Palani, Sagar Patel, Shriya Patel, Shivani Srivastava, Jay Patel, Salman Salehin, Yochai Birnbaum, Joseph Allencherril

Faculty, Staff and Students Publications

Purpose of review: This review will summarize the most contemporary trials for glucagon-like peptide 1 receptor agonists (GLP1-RA) and sodium-glucose cotransporter 2 inhibitors (SGLT2-i) and present guidance on management and recommendations on adjunctive tapering of insulin in patients with insulin-dependent diabetes mellitus, which we term "de-insulinization."

Recent findings: GLP1-RA and SGLT2-i are the principal classes of diabetes medications evidencing cardiovascular benefit. However, there is limited consensus on how to effectively prescribe and maintain these medications for patients on other glucose-lowering therapy, especially insulin. Patients with type 2 diabetes and cardiovascular disease should be started on either a GLP-1RA, SGLT-i, or …