Medicine and Health Sciences Commons^™

Kaiso Mediates Transcription And Rna Splicing In Colorectal Carcinoma: Role Of Brca1 In The Kaiso Enhanceosome, Weifeng Luo, Manish Kumar Tripathi, Qi Liu, Lei Chen, Robert W. Cowan, Juliet M. Daniel, Chi Yan, Ann Richmond, Albert B. Reynolds

School of Medicine Publications

Kaiso (ZBTB33) is a transcription factor involved in mitotic clonal expansion and tumorigenesis in association with Adenomatous Polyposis Coli (APC) loss of heterozygosity. ENCODE data show strong overlap of the Kaiso promoter-binding site—encode-derived Kaiso-binding site (eKBS) and many other transcription factors, including BRCA1. Here we sought to determine whether BRCA1 is a component of the Kaiso enhanceosome that regulates gene transcription. Using proximal ligation assays, immunoprecipitation followed by mass spectrometry, luciferase assays and ChIP-seq experiments, we evaluated the association between BRCA1 and Kaiso. Kaiso nuclear extract immunoprecipitation experiments revealed that Kaiso associates strongly with genes involved in RNA splicing and …

Advances In Molecular Imaging Of Vegfrs: Innovations In Imaging And Therapeutics, Hanieh Karimi, Sarah Lee, Wenqi Xu, Sigrid A. Langhans, David K. Johnson, Erik Stauff, Heidi H. Kecskemethy, Lauren W. Averill, Xuyi Yue

Department of Radiology Faculty Papers

Vascular endothelial growth factor receptors (VEGFRs) are key regulators of angiogenesis, lymphangiogenesis, and vascular permeability, playing essential roles in both physiological and pathological processes. The VEGFR family, including VEGFR-1, VEGFR-2, and VEGFR-3, interacts with structurally related VEGF ligands (VEGFA, VEGFB, VEGFC, VEGFD, and placental growth factor [PlGF]), activating downstream signaling pathways that mediate critical cellular processes, including proliferation, migration, and survival. Dysregulation of VEGFR signaling has been implicated in numerous diseases, such as cancer, cardiovascular conditions, and inflammatory disorders. Targeting VEGFRs with radiopharmaceuticals, such as radiolabeled peptides, antibodies, and specific tracers like 64Cu-bevacizumab and 89Zr-ramucirumab, has emerged as a powerful …

Importance Of Outbreak Response Research In Bridging Knowledge Gaps On Emerging Infectious Diseases, Robert F Breiman, David Wang, Michael Diamond, Adrianus C M Boon, Et Al.

2020-Current year OA Pubs

An important outcome of the devastating 2014 West African Ebola virus disease outbreak and the 2020 COVID-19 pandemic has been the growing promotion of conducting research during outbreaks of emerging infectious diseases (EIDs) as a valuable and acceptable process of acquiring knowledge to enhance our ability to better prevent and control these diseases in the future. Recognising the unique opportunity during outbreaks to leverage increases in cases over a short time interval and in a circumscribed area, we articulate a systematic process of conducting EID outbreak response research, highlighting knowledge gaps that should be prioritised, and measures that can be …

Linking Dna Methylation In Brain Regions To Alzheimer’S Disease Risk: A Mendelian Randomization Study, Dan Zhou, Quan Long, Chong Wu, Bingxin Zhao, Chao Cheng, Yaohua Yang, Qing Wu, Yong Wu, Changwei Li, Zhaoming Wang, Jianyong Wu, Xingyi Guo, Degui Zhi, Youping Deng, Lang Wu

Faculty, Staff and Students Publications

Aim: DNA methylation in brain regions represents a potential mechanism linking genetic variation to Alzheimer's disease (ad) risk, yet most studies have focused on blood-derived methylation markers. In this study, we conducted a systematic Mendelian randomization (MR) study to evaluate associations between predicted brain region-specific DNA methylation levels and ad risk, using methylation quantitative trait loci (mQTL) as genetic instruments.

Methods: We analyzed mQTLs from five human brain regions: cerebellum (CRBLM), frontal cortex (FCTX), causal pons (PONS), and temporal cortex (TCTX) from 600 individuals in Gibbs et al's study, as well as mQTLs from dorsolateral prefrontal cortex (DLPFC) of 543 …

Career Impact Of The National Interprofessional Fellowship In Patient Safety: An Alumni Evaluation, Kelley Arredondo

Faculty, Staff and Students Publications

Background: There has been a proliferation of health professions training programmes focused on quality and patient safety, but little information regarding the outcomes of these programmes. The purpose of this study was to examine the impact of an interprofessional quality and patient safety curriculum on career outcomes of interprofessional healthcare learners for the Veterans Affairs Patient Safety Fellowship.

Method: We conducted a survey-based assessment of 117 alumni of the Interprofessional Fellowship in Patient Safety assessing their satisfaction with the training program and career impacts.

Results: 84 of 117 alumni were located and participated in the assessment. Fellows entered the training …

Nonstructural Roles Of Junctophilin-2 In The Heart, Xander H T Wehrens

Faculty, Staff and Students Publications

Junctophilin-2 (JPH2) is an essential structural protein that maintains the integrity of junctional membrane complexes (JMCs) in cardiomyocytes, thereby playing its canonical role in excitation-contraction (E-C) coupling. Recent studies reveal novel, nonstructural functions of JPH2 in cardiomyocytes, including regulation of mitochondrial function, lipid metabolism, nuclear signaling, and innate immune responses. Calpain-mediated cleavage of JPH2 generates nuclear fragments, which differentially modulate stress responses. Moreover, full-length JPH2 also localizes to the nucleus, where it forms phase-separated nuclear droplets during oxidative stress. Collectively, these findings highlight JPH2 as a multifunctional protein with critical roles beyond its canonical structural function in E-C coupling.

Nurse Led Staff Education Program For Workplace Stress Reduction, Ebony Sudduth

Walden Dissertations and Doctoral Studies

This doctoral project evaluated the impact of a staff education program aimed at increasing healthcare workers' awareness of workplace stress dangers among teammates in an outpatient hemodialysis center. The identified practice issue was limited knowledge about the facilitators, adverse outcomes, and resources related to occupational stress in healthcare. Lack of education regarding the risks of work-related stress presents a critical concern in nursing practice, significantly affecting caregiver well-being and patient outcomes. Nurses, particularly in high-pressure environments such as hemodialysis centers, often experience unrecognized and unmanaged emotional and physical demands, leading to chronic stress and burnout. Hemodialysis nurses are especially susceptible …

Effect Of In-Season Potentiation And Priming On Jump Height In Collegiate D1 American Football Players, Benjamin Dagostino, Kody Cooke, Paulette Yamada, Trevor Short

Topics in Exercise Science and Kinesiology

Neuromuscular priming and post-activation potentiation (PAP) are techniques utilized to increase nervous system excitation, muscle force, and rate of force development during subsequent muscle contractions in sport. PAP is a commonly used approach that has the potential to influence neuromuscular status monitoring and flagging, and optimize power training. Specifically, jump height is an important parameter in athletic performance and assessing inter-limb asymmetries. Thus, the purpose of this paper is to report the effects of different PAP strategies on jump height during a competitive D1 American football season. These findings will inform practitioners on optimal PAP strategies and their implications …

Detecting Physical Activity Using Wearable Sensor Data, Dipok Deb

Data Science and Data Mining

This study focuses on detecting physical activity using wearable sensor data, specifically distinguishing between walking and running. A dataset comprising accelerometer and gyroscope readings is used to train and evaluate various machine learning models, including logistic regression, random forest, k-nearest neighbors, naïve Bayes, and XGBoost. Extensive preprocessing, such as creating lag features and rolling statistics, is performed to enhance temporal data representation. The models are evaluated using metrics like accuracy, precision, recall, and F1 score. Incorporating lag and rolling features significantly improves model performance, with logistic regression achieving perfect scores across all metrics. These findings demonstrate the effectiveness of enhanced …

Proceedings From The Sixth Annual Society For Sports Neuroscience Conference, Neurosports Editorial Staff

Journal for Sports Neuroscience

Proceedings from the Sixth Annual Society for Sports Neuroscience Conference

Quality Over Quantity-Current Challenges Of Robotic Surgery In Poland, Marcin Kubiak, Jacek Doniec, S Vincent Grasso, Andrew Gumbs, Amir Nour Mohammadi, Katarzyna Sędłak, Zuzanna Pelc, Stanisław Góźdź, Wojciech Załuska, Artur Bachta, Paweł Rybojad, Kamil Torres, Timothy M Pawlik, Marek Zawadzki, Andrzej Budzyński, Karol Rawicz-Pruszyński

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Since its introduction in 2010, a dynamic growth of robotic-assisted surgery (RAS) has been observed in Poland. The number of healthcare institutions implementing RAS has tripled in the last 36 months, with 80 surgical robots currently utilized on a national scale. While urological procedures dominate RAS utilization (73%), adoption in gynecology (12.2%) and gastrointestinal surgery (8.5%) is rising, driven by recent National Health Fund reimbursement policies. However, significant fragmentation and alarmingly low numbers of individual RAS procedures were identified: 47.7% of surgeons perform less than 40 cases annually. Parallel to expanding the robotic surgery reimbursement program, several standardized actions are …

The Effect Of Ex-Ante Government Responsibility For Health On Public Health Financing In Post Pandemic Budgets, Denis Granados, Rylee Roman, Hallie Sidman

Working Papers Series

This paper investigates how pre-pandemic levels of government responsibility for public health financing influenced post-pandemic health spending across selected OECD countries. Using a combination of descriptive analysis and regression modeling, the study examines changes in public health expenditure per capita between 2019 and 2022, focusing on key variables such as the government’s share of health financing, the Total Pandemic Policy Intensity (PPI) index, and GDP per capita. Findings suggest that while all countries increased health spending post-COVID-19, the scale of change varied significantly based on economic capacity, institutional readiness, and political will. Notably, countries with higher pre-pandemic public health investment …

Emerging Therapeutic Potential Of Fisetin For Nephrotoxicity, Kidney Injury, And Nephropathy: A Systematic Review, Saeed Mohajeri, Alizamen Salehifard Jouneghani, Saeid Heidari-Soureshjani, Catherine M.T. Sherwin, Faramarz Beigi

Pediatrics Faculty Publications

INTRODUCTION/OBJECTIVE: Kidney diseases cause high morbidity and mortality worldwide. This study investigated the mechanistic effects of Fisetin (FIS) on nephrotoxicity, kidney injury, and nephropathy induced by drugs, toxic chemicals, diabetes, lupus, diet, ureteral obstruction, and ischemic situations.

METHODS: To identify pertinent articles published before Oct 1, 2024, a comprehensive electronic search was performed across several databases, including MEDLINE/PubMed, Embase, Cochrane Library, Web of Science, and Scopus. After establishing clear inclusion and exclusion criteria, studies that met the research objectives were selected. Data were extracted and analyzed, documenting study characteristics, methodologies, and biological mechanisms.

RESULTS: Antioxidant benefits were evident with increased …

Functional Resilience Of Healthcare In The Critical Juncture Of The Covid-19 Pandemic, Avner Kronisch, Christian Bongiorno, Kerane Smith, John Baker

Working Papers Series

This paper offers a comparative analysis of eight national healthcare systems—spanning democracies, autocracies, and various institutional models—to evaluate resilience during the COVID-19 pandemic. Drawing on Shvetsova et al.’s framework of informational and authority redundancies, and Parker & Klein’s “choke point” theory of healthcare rationing, we examine how institutional structure shaped pandemic response, system adaptability, and continuity of non-COVID services. Using indicators like life expectancy, under-five mortality, hospital capacity, cancer survival, and excess mortality, we explore how systems absorbed shock and maintained essential care. We find that decentralized and polycentric governance structures, when paired with coordination and resource adequacy, enhanced resilience—exemplified …

Covid-19 & Healthcare (Re)Privatization? A Comparative Analysis Of High And Medium Per Capita Gdp Countries, Kristina Donders, Kaitlyn Matthews, Brittany Reyes, Frank. H. Rizzo

Working Papers Series

This paper examines whether the COVID-19 pandemic accelerated healthcare privatization in high- and medium-GDP countries. Drawing on political economy theories of path dependence and privatization, we analyze changes in public and private healthcare expenditures in eight countries: Canada, Chile, Denmark, Georgia, Luxembourg, Norway, the Philippines, and South Korea—comparing data from 2019 and 2022. Using World Bank indicators on healthcare financing, GDP, aging populations, and food insecurity, we find that although healthcare expenditures generally increased during the pandemic, this increase was primarily in public, not private, spending. Case studies of Georgia and South Korea reveal that local economic and demographic pressures, …

Institutional Change In Healthcare As Brought About By The Critical Juncture Of The Covid-19 Pandemic, Olga Shvetsova

Working Papers Series

This introduction to the 2025 capstone symposium lays the conceptual groundwork for a new approach to analyzing institutional change in healthcare systems triggered by the COVID-19 pandemic. Departing from conventional legal-institutional perspectives, it extends the decision space framework developed by Bossert (1998) to capture both formal authority and the de-facto responsibilities exercised by public and non-public actors. By disaggregating health responsibilities across levels of government and sectors—public, private, and hybrid—and operationalizing these as quantifiable indicators over time, the framework allows for real-time and comparative assessment of institutional transformation. The pandemic is treated as a critical juncture that exposed and reconfigured …

Comparison Between Pipeline Embolization Device (Ped) Versus Flow Redirection Endoluminal Device (Fred) For Intracranial Aneurysms: A Comprehensive Systematic Review And Meta-Analysis, Seyed Maroufi, Mohammad Fallahi, Muhammad Waqas, Othman Bin-Alamer, Manisha Koneru, Joanna Roy, Jane Khalife, Hamza Shaikh, Daniel Tonetti

Department of Neurosurgery Faculty Papers

OBJECTIVES: The performance of the Pipeline Embolization Device (PED) and relatively newer double-layered Flow Re-Direction Endoluminal Device (FRED) have been studied for the treatment of intracranial aneurysms, but direct comparisons between PED and FRED are limited. The current systematic review aims at comparing the efficacy and safety of PED and FRED.

METHODS: A systematic review of the literature was conducted according to the PRISMA guideline. PubMed, Embase, Scopus, Web of Science, and Cochrane Library were searched, and related records were identified. A meta-analysis of double-arm studies comparing PED and FRED was conducted on angiographic and clinical outcomes, retreatment rates, and …

Effect Of Access Cavity Preparation And Cement On The Fracture Load Of Translucent Zirconia Crowns, Andrea Fenton, Amir H. Nejat, Edwin Kee, Xiaoming Xu, Albert F. Mcmullen Iii

School of Dentistry Faculty Publications

Purpose: To evaluate the effect of endodontic access hole preparation and choice of luting cement on the fracture resistance of translucent zirconia (5Y) crowns. Materials and Methods: Polymethylmethacrylate (PMMA) dies, representing a prepared maxillary molar tooth, were milled. Translucent zirconia crowns were milled from 5Y (Cercon XTML) zirconia discs and sintered. Forty crowns were divided into four groups (n = 10 per group) based on access hole preparation (accessed, non-accessed) and type of luting cement (resin cement, resin modified glass ionomer (RMGI) cement). Crowns were cemented on the PMMA dies with either resin cement (Panavia SA Cement Universal, Kuraray Noritake …

Pelvic Pain Symptoms And Inflammation Among Adolescents And Adults With And Without Endometriosis, Amy Shafrir, Ashley Laliberte, Britani Wallace, Allison F. Vitonis, Christine B. Sieberg, Marzieh Ghiasi, Larry I. Magpantay, Marta Epeldegui, Andrew Schrepf, Sawsan As-Sanie, Kathryn L. Terry, Stacey A. Missmer

Health Sciences Faculty Publications

We evaluated inflammatory markers among 389 surgically confirmed endometriosis cases and 505 controls from the Women's Health Study: From Adolescence to Adulthood (A2A) cohort. Participants reported dysmenorrhea, acyclic pelvic pain, dyspareunia, and pain with bowel movements. Using multiplex assays, we measured their levels of plasma interleukin (IL)-1β, -6, -8, -10, and -16, tumor necrosis factor (TNF)-α, monocyte chemotactic protein (MCP)-1 and -4, thymus and activation-regulated chemokine (TARC), and interferon gamma-induced protein (IP)-10. For each symptom, we computed biomarker-level geometric means (GMs) with 95% confidence intervals (95% CI) using multivariate linear regression among the endometriosis cases and controls, with interactions with …

Current Issues In Oral Health: Introduction To The Special Issue, Nejat Düzgüneş

Pacific Faculty Work

No abstract provided.

Lipoprotein(A) And Heart Failure Among Black And White Participants In Atherosclerosis Risk In Communities Study, Framingham Offspring Study, And Multi-Ethnic Study Of Atherosclerosis: The Pooling Project, Geoffrey H Tison, Hiroaki Ikezaki, Margaret R Diffenderfer, Ching-Ti Liu, Ron C Hoogeveen, Christie M Ballantyne, Ernst J Schaefer, Michael Y Tsai

Faculty, Staff and Students Publications

Background: This study investigated Lp(a) (lipoprotein(a)) levels with heart failure (HF) incidence overall and ejection fraction (EF) subtypes among Black and White participants in a pooled analysis of MESA (Multi-Ethnic Study of Atherosclerosis), FOS (Framingham Offspring Study), and ARIC (Atherosclerosis Risk in Communities Study).

Methods: This study was conducted among 16 771 White and Black participants in ARIC (N=10 347), MESA (N=4150), and FOS (N=2274). Baseline was time of Lp(a) measurement (ARIC Visit 4: 1996-1998; MESA Visit 1: 2000-2002; FOS Cycle 6: 1995-1998). HF with reduced EF (HFrEF) was defined as EF < 50% and ≥50% as HF with preserved EF (HFpEF). Cox proportional hazards regression was used to evaluate associations between Lp(a) (log-transformed continuous, dichotomized at ≥30 mg/dL and ≥50 mg/dL, and quartiles) and HF (overall, HFpEF, HFrEF) in the overall population and stratified by race. Analyses were replicated excluding prior history of myocardial infarction.

Results: There were 2759 HF cases (HFpEF N=859; …

Verifiable Summarization Of Electronic Health Records Using Large Language Models To Support Chart Review, Leslie Chang, Kirollos Roman, Esteban Gershanik, Camellia Hernandez, Miguel Linares, Jorge Rodriguez, Durga Thakral, Ozan Unlu, Jacqueline You, Li Zhou, David Bates

Faculty, Staff and Students Publications

Information overload in electronic health records (EHRs) hampers clinicians' ability to efficiently extract and synthesize critical information from a patient's longitudinal health record, leading to increased cognitive burden and delays in care. This study explores the potential of large language models (LLMs) to address this challenge by generating problem-based admission summaries for patients admitted with heart failure, a leading cause of hospitalization worldwide. We developed an extract-then-abstract approach guided by disease-specific "summary bundles" to generate summaries of longitudinal clinical notes that prioritize clinically relevant information. Through a mixed-methods evaluation using real-world clinical notes, we compared physicians' ability to answer patient-specific …

Phage-Induced Protection Against Lethal Bacterial Reinfection, Samantha R Ritter, Jacob J Zulk, Rachel Lahowetz, Kathryn A Patras, Austen L Terwilliger, Anthony W Maresso

Faculty, Staff and Students Publications

Bacteriophages, or phages, are viruses that target and infect bacteria. Due to a worldwide rise in antimicrobial resistance (AMR), phages have been proposed as a promising alternative to antibiotics for the treatment of resistant bacterial infections. Up to this point in history, phage use in preclinical animal studies, clinical trials, and emergency-use compassionate care cases has centered around the original observation from 1915 showing phage as lytic agent, and thus a treatment that kills bacteria. Here, we describe an activity associated with phage therapy that extends beyond lytic activity that results in long-term protection against reinfection. This activity is potent, …

Targeting Eya1 Phosphatase Activity In Mll-Rearranged Leukemia, Lola Badmus

Dissertations

MLL-rearranged (MLL-r) leukemia is an aggressive subset of acute leukemia, accounting for up to 10% of adult and 70% of infant AML and ALL cases. These leukemias are driven by MLL fusion proteins, which recruit epigenetic cofactors to dysregulate gene expression, leading to poor prognosis and resistance to conventional chemotherapy. Previous lab work identified EYA1’s role in leukemogenesis, establishing it as a therapeutic target in MLL-r leukemia. EYA1, is a transcriptional coactivator and protein tyrosine phosphatase (PTP). Originally a gout medication, benzbromarone (BBR), was identified in an NCI Diversity Set screen as an EYA1-specific PTP inhibitor. BBR provides a tool …

Tumor Microenvironment Governs The Prognostic Landscape Of Immunotherapy For Head And Neck Squamous Cell Carcinoma: A Computational Model-Guided Analysis, Priyan Bhattacharya, Alban J Linnenbach, Andrew P. South, Ubaldo E. Martinez-Outshoorn, Joseph M. Curry, Jennifer M. Johnson, Larry A. Harshyne, Mỹ G. Mahoney, Adam J. Luginbuhl, Rajanikanth Vadigepalli

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

Immune checkpoint inhibition (ICI) has emerged as a critical treatment strategy for squamous cell carcinoma of the head and neck (HNSCC) that halts the immune escape of the tumor cells. Increasing evidence suggests that the onset, progression, and lack of/no response of HNSCC to ICI are emergent properties arising from the interactions within the tumor microenvironment (TME). Deciphering how the diversity of cellular and molecular interactions leads to distinct HNSCC TME subtypes subsequently governing the ICI response remains largely unexplored. We developed a cellular-molecular model of the HNSCC TME that incorporates multiple cell types, cellular states, and transitions, and molecularly …

Biomarker-Guided Imaging And Ai-Augmented Diagnosis Of Degenerative Joint Disease, Rahul Kumar, Kyle Sporn, Aryan Borole, Akshay Khanna, Chirag Gowda, Phani Paladugu, Alex Ngo, Ram Jagadeesan, Nasif Zaman, Alireza Tavakkoli

Department of Medicine Faculty Papers

Degenerative joint disease remains a leading cause of global disability, with early diagnosis posing a significant clinical challenge due to its gradual onset and symptom overlap with other musculoskeletal disorders. This review focuses on emerging diagnostic strategies by synthesizing evidence specifically from studies that integrate biochemical biomarkers, advanced imaging techniques, and machine learning models relevant to osteoarthritis. We evaluate the diagnostic utility of cartilage degradation markers (e.g., CTX-II, COMP), inflammatory cytokines (e.g., IL-1β, TNF-α), and synovial fluid microRNA profiles, and how they correlate with quantitative imaging readouts from T2-mapping MRI, ultrasound elastography, and dual-energy CT. Furthermore, we highlight recent developments …

Racial And Ethnic Representation And Study Engagement In A Siteless Digital Clinical Trial Using A Smartwatch: Findings From The Apple Heart Study., Kaylin T. Nguyen, Jingzhi Yu, Haley Hedlin, Adam T. Phillips, Sumbul Desai, Lauren Cheung, Peter R Kowey, Sneha S. Jain, John S. Rumsfeld, Andrea M. Russo, Christopher B. Granger, Mellanie True Hills, Manisha Desai, Kenneth W. Mahaffey, Mintu P. Turakhia, Marco V. Perez

Department of Medicine Faculty Papers

OBJECTIVE: To evaluate differences in study engagement in diverse racial/ethnic groups that have been significantly underrepresented in atrial fibrillation and digital clinical trials.

PATIENTS AND METHODS: This was a secondary analysis of participants from the Apple Heart Study, a prospective, siteless, single-arm pragmatic clinical trial from November 29, 2017, to January 31, 2019. Black, Hispanic, Asian, and White participants were monitored using an irregular rhythm notification algorithm designed to detect atrial fibrillation on a smartwatch. Logistic regression was performed to evaluate the relationship between race/ethnicity and completion of the first study visit after an irregular rhythm notification, adjusting for demographic …

Mutant P53 Gain Of Function: Why Many See It, Why Some Do Not, Guillermina Lozano, Carol Prives, Kanaga Sabapathy

Faculty, Staff and Student Publications

Mutations in the TP53 tumor-suppressor gene in human cancer are unique in that 60% to 70% are of the missense variety, resulting in a full-length protein that is often highly expressed in patients' tumors. These missense mutant proteins often exhibit pro-oncogenic activities (referred to as gain of function) in mouse models and human cell lines and correlate with poor cancer prognosis in some cases.

A Novel Cardiomyopathy Phenotype Linked To A Chd7 Missense Variant, In Young Park, Chih-Wei Hsu, Karim Bouazoune, Christina E Espindola, Madeline Hannah Mclaughlin Armond, Cristian Coarfa, Sandra L Grimm, James F Martin, Donna M Martin, Cheryl Lyn Walker

Center for Medical Ethics and Health Policy Staff Publications

Loss of function in the chromatin remodeler CHD7 causes CHARGE syndrome, characterized by variable penetrance and diverse abnormalities. However, establishing genotype-phenotype correlations has been challenging, as most CHD7 inactivating mutations are null alleles. Through CHD7 missense variant analysis at potential phosphorylation sites, we identified T730 (T720 in mice) as a critical residue associated with pathogenesis. Using a CHD7 T730 missense variant (Chd7T720A) and a frameshift null allele (Chd7fs) in a mouse model, we found that Chd7fs/fs mice were non-viable, while Chd7fs/+ mice exhibited haploinsufficiency-related circling behavior. Notably, Chd7fs/T720A mice died before postnatal …

Comparison Of Open And Laparo-Endoscopic Repair Techniques For Patients With Bilateral Inguinal Hernias, Divyansh Agarwal, Tina Bharani, Nora Fullington, Lauren Ott, Kortney Hodgson, Daelyn Mcclain, Kaela Blake, Michael Reinhorn

Department of Surgery Faculty Papers

INTRODUCTION: For primary bilateral inguinal hernias, international guidelines favor a laparoscopic posterior mesh repair due to relatively lower risk of acute and chronic pain, faster recovery, and favorable biomechanical properties compared to open anterior approaches (Lichtenstein, plug and patch, etc.). However, studies comparing open mesh-based bilateral inguinal hernia repairs to bilateral laparoscopic and robotic mesh-based approaches are limited. The Abdominal Core Health Quality Collaborative (ACHQC) registry includes longitudinal data on bilateral inguinal hernia repairs performed via open as well as laparo-endoscopic approaches. We hypothesize that outcomes for bilateral inguinal hernia repair are similar between open and laparo-endoscopic approaches in the …