Digital Commons Network^™

Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy And Phenotypic Expansions, Sarah Araji, Xiaonan Zhao, Jill A Rosenfeld, Seema R Lalani, Daryl A Scott

Faculty, Staff and Students Publications

Dandy-Walker malformation (DWM) is a rare congenital abnormality of the posterior fossa and the cerebellum and has an incidence of 1 in 10 000 to 30 000 births. Although DWM can present in isolation, it is often associated with other central nervous system (CNS) abnormalities or extra-CNS anomalies (DWM+). A molecular cause is not identified in the majority of individuals with DWM+. This is due, in part, to uncertainty regarding optimal testing strategies and an incomplete understanding of the genetic causes of DWM+. In this study, we analyzed clinical exome sequencing (cES) data from 91 individuals with DWM+ to determine …

A Randomized Double-Masked Study Evaluating Safety And Efficacy Of A Novel Topical Cooling Device For Chronic Ocular Surface Pain, Anat Galor, Christopher Rapuano, Alice Epitropoulos, Jayne Weiss, Stephen Pflugfelder, Preeya Gupta, Deepinder Dhaliwal, Laura Periman, Bonnie An Henderson, Thanh T Nguyen, Chameen Samarawickrama, Helen Wu, Tomasz Stryjewski, James A Stefater, Mark Hinds, Pooja Bhindi, Cristos Ifantides

Faculty, Staff and Students Publications

Introduction: No therapy is currently FDA approved to treat ocular pain. This study evaluated the safety and efficacy of a novel topical ocular cooling device for chronic ocular surface pain (COSP).

Methods: This was a prospective, randomized, double-masked, multicenter clinical feasibility study in adults aged 22-90 years with COSP. The intervention was a handheld device that applied cold temperatures to the conjunctival surface above the long ciliary nerves via two metallic contact surfaces at the 3 and 9 o'clock positions. Subjects were randomized 2:1 to a one-time, 4-min treatment with the active (frozen) or sham (refrigerated) device and followed for …

Investigating The Correlation Between Scleral Spur Angle And Intraocular Lens Tilt, Dylan Mcbee, Karim Kozhaya, Li Wang, Douglas D Koch, Allison J Chen, Mitchell P Weikert

Faculty, Staff and Students Publications

Purpose: To evaluate the correlation between the preoperative vertex-scleral spur angle (Vtx-SSA) and postoperative horizontal intraocular lens (IOL) tilt after routine cataract surgery.

Setting: Cullen Eye Institute, Baylor College of Medicine, Houston, Texas.

Design: Prospective case series.

Methods: This study enrolled patients who underwent uneventful phacoemulsification cataract extraction with IOL implantation. The Anterion and Eyestar 900 swept-source optical coherence tomographers (SS-OCTs) were used to determine Vtx-SSA and lens tilt (crystalline and IOL) measurements, respectively. Tilt vectors were decomposed into orthogonal, vertical, and horizontal components to explore preoperative correlations independently. The Pearson correlation coefficient and linear regression analysis were used to …

Thrive: A Phase 3, Randomized, Double-Masked, Placebo-Controlled Study Of Veligrotug For Active Thyroid Eye Disease, Michael T Yen, Kimberly Cockerham, Peerooz Saeed, Steven Leibowitz, Raghu C Mudumbai, Michael P Schittkowski, Vickie Lee, Jody Abrams, Roger E Turbin, Julián Bermúdez Pío-Rendón, Eckart Bertelmann, Edwina Eade, Navdeep Nijhawan, Marta Pérez-López, Marco Sales-Sanz, Sandy Zhang-Nunes, Andrea L Kossler, Ashley Pajak, Abhijit Narvekar, Radhika Tripuraneni, Antonio Manuel Garrido-Hermosilla

Faculty, Staff and Students Publications

Purpose: Thyroid eye disease (TED) is a debilitating autoimmune disease with significant unmet needs. This study's objective was to assess the efficacy and safety of veligrotug, a full antagonist monoclonal antibody to the insulin-like growth factor-1 receptor, in patients with active TED.

Design: Veligrotug was assessed in THRIVE, a global, multicenter, randomized, double-masked, placebo-controlled phase 3 trial.

Participants: Adult patients with moderate-to-severe active TED (onset ≤ 15 months, proptosis ≥ 3 mm above normal, and clinical activity score [CAS] ≥ 3) received either veligrotug or placebo.

Methods: Patients were randomized 2:1 to receive 10 mg/kg veligrotug or placebo administered every …

Matching-Adjusted Indirect Comparison Of Acoltremon Ophthalmic Solution 0.003% And Cyclosporine 0.05% Ophthalmic Emulsion For Increased Tear Production In Patients With Dry Eye Disease, Stephen Pflugfelder, Tony Okoro, Margaret Ainslie-Garcia, Anja Haltner, Emily K Prentiss, Elizabeth M Salvo-Halloran, Nikethana Srikanth, Michelle Senchyna, Esen K Akpek

Faculty, Staff and Students Publications

No abstract provided.

Diabetic Retinopathy Severity On Ultra-Widefield Fluorescein Angiography Versus Color Photography And Association With Risk Of Disease Worsening, Paolo S Silva, Danni Liu, Lloyd P Aiello, Ruben Grigorian, Sandeep Grover, Lee M Jampol, Daniel F Martin, Michele Melia, Christina Y Weng, Jennifer K Sun

Faculty, Staff and Students Publications

Purpose: To evaluate the potential benefits of ultra-widefield (UWF) fluorescein angiography (FA) versus color photography in assessing the risk of diabetic retinopathy (DR) worsening.

Design: Exploratory analysis of a longitudinal observational study (Protocol AA).

Participants: Participants with ≥1 eye having nonproliferative DR at baseline.

Methods: For each UWF-color and UWF-FA image, the extent and severity of DR lesions within the ETDRS 7-field area ("masked") and the full image area ("unmasked") were determined. Diabetic retinopathy severity levels were graded for each combination of modality and masking condition using the ETDRS Diabetic Retinopathy Severity Scale (DRSS). Associations between baseline UWF-color and UWF-FA …

Efficacy And Safety Of Collagenase Clostridium Histolyticum In Men Who Have Sex With Men, Jake A Miller, Muhammed A Moukhtar Hammad, Lucas G C R De Amorim, Laura Angulo-Llanos, Helen L Bernie, Jeremiah R Dallmer, Grace M Garrett, Gal S Grunhaus, Beatriz S Hernandez, Tung-Chin Hsieh, Bruce R Kava, Mohit Khera, Thomas A Masterson, Vi Nguyen, Thairo A Pereira, Daniela O Rendon, Max D Sandler, Dan V Tran, Faysal A Yafi

Faculty, Staff and Students Publications

Background: While prior studies have demonstrated that men who have sex with men (MSM) may disproportionately experience distress due to Peyronie's disease (PD), limited evidence exists regarding the outcomes of these men when treated with collagenase Clostridium histolyticum (CCH) injections.

Aim: To investigate the outcomes of MSM undergoing CCH injections for PD.

Methods: A retrospective analysis was performed for 790 patients undergoing CCH injections for PD at 5 academic centers within the United States, including data pertaining to demographic information, sexual orientation, penile curvature characteristics, treatment characteristics, and treatment-related outcomes.

Outcomes: The impact of sexual orientation on treatment-related satisfaction, efficacy, …

Validation Of The Immune-Mediated Colitis Endoscopic Score Using A Retrospective Cohort Of Patients With Immune-Mediated Colitis, Malek Shatila, Carolina Colli Cruz, Krishnavathana Varatharajalu, Andres Caleb Urias Rivera, Kian Abdul-Baki, Kei Takigawa, Tanvi Gupta, Elliot Baerman, Linfeng Lu, Irene Jeong-Ah Lee, Hamza Salim, Raakhi Menon, Andrew Sullivan, Varun Vemulapalli, Cristina Natha, Ayesha Khan, Petros Grivas, David Faleck, Michael Dougan, Anusha Shirwaiker Thomas, Yinghong Wang

Faculty, Staff and Students Publications

Background and aims: Immune-mediated colitis (IMC) is a challenging adverse effect of immune checkpoint inhibitor therapy, often leading to treatment interruption or discontinuation. Current IMC endoscopic scoring systems were adapted from those used for inflammatory bowel disease but fail to fully capture IMC. The newly proposed IMC endoscopic score (IMCES) seeks to help guide prognosis and treatment. We aimed to validate IMCES and explore its association with IMC clinical severity and outcomes.

Methods: This single-center retrospective study included patients with IMC who received immune checkpoint inhibitors and underwent endoscopic evaluation. IMCESs were calculated on the basis of 10 gross endoscopic …

Treatment Of Obsessive-Compulsive Disorder Via Mental Health Technology, Erika S Trent, Nisha Jagannathan, Eric A Storch

Faculty, Staff and Students Publications

Obsessive-compulsive disorder (OCD) is a debilitating neuropsychiatric disorder that remains chronic unless intervened with evidence-based intervention. Cognitive behavioral therapy (CBT) with exposure and response prevention is the gold-standard psychological intervention for OCD, but many individuals do not receive this intervention due to barriers to accessing treatment. Mental health technology tools such as telehealth, computerized programs, internet-delivered CBT, and mobile applications have been adopted to expand the accessibility of CBT. An up-to-date summary of the evidence base of technology-mediated formats of CBT for OCD treatment is provided. Clinical benefits offered by such approaches, current limitations, and future research directions are discussed.

Corrigendum To “Establishing A Training Plan And Estimating Inter-Rater Reliability Across The Multi-Site Texas Childhood Trauma Research Network” [Psychiatry Research 323 (2023) 115168], Jeffrey D Shahidullah, James Custer, Oscar Widales-Benitez, Nazan Aksan, Carly Hatchell, D Jeffrey Newport, Karen Dineen Wagner, Eric A Storch, Cynthia Claassen, Amy Garrett, Irma T Ugalde, Wade Weber, Charles B Nemeroff, Paul J Rathouz

Faculty, Staff and Students Publications

No abstract provided.

Letter To The Editor Regarding “Questionable Indication For Postoperative Radiotherapy After Surgery For Metastases Of The Major Long Bones”: A Cautionary Note On Methodology And Analysis, Shing Fung Lee, Joel A Finkelstein, Peter J Hoskin, Dirk Rades, Eva Oldenburger, Tracy A Balboni, Daniel E Roos, Hans Kreder, Eric L Chang, Samuel Ryu, Amal Khoury, Kristopher Dennis, Candice Johnstone, Sara R Alcorn, Charles B Simone, Stephanie Brown, Jonas Willmann, Joanne M Van Der Velden, Mateusz Spałek, Yvette M Van Der Linden, Joanna Kazmierska, Nicolaus Andratschke, Emily J Martin, Michael Chao, Hany Soliman, Kenny Kwan, Raymond C H Yau, Shengji Yu, Zhenfeng Li, Albert Yee, Ningning Lu, Xinxin Zhang, Gavin P Jones, W L Chan, Adrian W Chan, Chung Ming Chan, Agata Rembielak, Gustavo N Marta, Vassilios Vassiliou, Saverio Caini, Edward Chow, Henry C Y Wong

Faculty, Staff and Students Publications

No abstract provided.

Human Neuronal Firing Varies With The Frequency Of Local Field Potential Oscillations, Zahra Jourahmad, Raissa K Mathura, Layth S Mattar, Melissa C Franch, Danika L Paulo, Mohammed Hasen, Nicole R Provenza, Benjamin Y Hayden, Sameer A Sheth, Eleonora Bartoli, Andrew J Watrous

Faculty, Staff and Students Publications

Neural oscillations play a critical role in shaping neuronal firing patterns. While phase-locked neuronal firing ("phase tuning") has been extensively studied in animal models and human invasive recordings, much less is known about whether neurons show preferential firing at specific oscillatory frequencies, termed frequency tuning. Here, we employ human intracranial recordings across several brain regions including hippocampus, entorhinal cortex, anterior and posterior cingulate cortex, and orbitofrontal cortex to test the hypothesis that neurons exhibit frequency-specific firing. We analyzed 357 single units recorded simultaneously with local field potentials in 19 neurosurgical patients during awake resting. We estimated the instantaneous frequency of …

Hematologic Markers And Machine Learning In Predicting Placenta Accreta: A Case-Control Study, Michael D Jochum, Kelly D Albrecht, Yamely Mendez Martinez, Victoria Zhang, Sanmay Sarada, Brian Burnett, Christina C Reed, Karin A Fox, Amir A Shamshirsaz, Michael A Belfort, Jessian L Munoz, Hennie A Lombaard

Faculty, Staff and Students Publications

Objective: This study aims to enhance antenatal detection of placenta accreta spectrum (PAS) and predict severe hemorrhage at delivery using machine learning by evaluating the association between antenatal hematologic index trends across trimesters, imaging markers, and patient history.

Methods: We retrospectively analyzed 2017-2023 data from a PAS referral center, including demographics, laboratory results, ultrasounds, and outcomes. Patients with confirmed PAS (cases) were compared to those with antenatal risk but no histopathologic evidence of PAS (controls). Statistical analyses and machine learning models were developed to predict PAS. We also used machine learning to predict severe hemorrhage (>1500 mL) in the …

Hematochezia In A Patient With End-Stage Renal Disease, Brennan Gioe, Conrad Fernandes, E Celia Marginean, Stalin Subramanian

Faculty, Staff and Students Publications

No abstract provided.

Anterior Cutaneous Nerve Entrapment Syndrome From Glucagon-Like Peptide-1 Receptor Agonist Injection, Neha Singh, Elisa Chaparro, Jordan Michael Shapiro, Emanuel Narcis Husu

Faculty, Staff and Students Publications

Anterior cutaneous nerve entrapment syndrome (ACNES) is an underdiagnosed cause of abdominal pain. We report the first documented ACNES case following subcutaneous administration of glucagon-like peptide-1 receptor agonist. A 44-year-old man developed focal, neuropathic abdominal pain coinciding with initiation of tirzepatide injections. Clinical examination confirmed ACNES diagnosis, and pain improved after relocating injections away from the abdomen and initiating multimodal pharmacotherapy. This case emphasizes the need to consider ACNES in patients endorsing focal abdominal pain with concurrent use of glucagon-like peptide-1 therapy and highlights injection site modification as a simple, effective management strategy while exercising self-restraint with respect to workup.

Outcomes After Elective Total Aortic Arch Replacement: Does Obesity Matter?, Vicente Orozco-Sevilla, Michael Tyler Guinn, Ivan Murrieta-Alvarez, Veronica A Glover, Susan Y Green, Subhasis Chatterjee, Scott A Lemaire, Marc R Moon, Joseph S Coselli

Faculty, Staff and Students Publications

Objective: Obesity is a chronic disease linked to high mortality and morbidity after cardiac procedures, but its relationship to outcomes after total aortic arch replacement (TAR) remains unclear. We examined TAR data to determine whether obesity is associated with greater perioperative risk.

Methods: Among 787 TARs performed from 1990 to 2023, we excluded patients who lacked body mass index (BMI) data, had nonelective or nonstandard repairs, or were underweight (BMI < 18.5 kg/m2). The remaining 521 patients did not have obesity (18.5 ≤BMI < 30; n = 389) or did (BMI ≥30; n = 132). Patients with obesity were class 1 (30 ≤ BMI < 35), class 2 (35 ≤ BMI < 40), or class 3 (BMI ≥40). We compared preoperative and perioperative variables for BMI ≥30 (obesity) versus BMI < 30. Adverse events were operative mortality, persistent stroke, spinal cord deficit, and renal failure. We performed multivariable logistic regression and Kaplan-Meier survival analysis.

Results: Patients with obesity had greater rates of obstructive sleep apnea, transient spinal cord deficit, and acute renal dysfunction than patients with normal weight. During repair, the use of antegrade …

Exercise Prescription For Adults With Prediabetes In The Primary Care Clinic, Katherine W. Hall

Doctor of Nursing Practice Final Manuscripts

Prediabetes affects approximately one in three adults in the United States, with an estimated 10% progressing to Type 2 Diabetes Mellitus (T2DM) annually. Despite strong evidence supporting exercise as a first-line intervention to prevent disease progression, most patients in primary care settings do not receive structured physical activity counseling. This evidence-based project (EBP) aims to address this gap by implementing a standardized protocol to assess baseline physical activity levels and deliver individualized exercise prescriptions to adults with prediabetes in the primary care clinic.

Eligible participants, defined by HbA1c values between 5.70% and 6.49%, were identified during routine primary care visits …

Enhancing Emergency Department Preparedness For Amniotic Fluid Embolism Through Evidence-Based Simulation Training, Olivia M. Smoak

Doctor of Nursing Practice Final Manuscripts

Maternal mortality in the United States remains a significant and worsening public health concern, with increasing reliance on emergency departments (EDs) as access points for maternal care. Emergency clinicians are therefore more likely to encounter high-acuity obstetric emergencies, including maternal cardiac arrest and amniotic fluid embolism (AFE), yet often receive limited formal training in these conditions. Simulation-based education, interdisciplinary training, and cognitive aids have been identified as effective strategies to improve performance in high-risk, low-frequency events.

The purpose of the evidence-based practice project was to evaluate whether an interdisciplinary simulation with obstetric-led debrief and introduction of the AFE checklist improves …

Implementation Of Symptom Management Standing Order Sets In An Ambulatory Palliative Care Clinic, Anna Manfreda

Doctor of Nursing Practice Final Manuscripts

Background: As outpatient palliative care expands, the need for timely, evidence-based symptom management has become increasingly critical. In many ambulatory settings, triage nurses are the first point of contact for patient symptom reporting; however, without standing orders, management may vary by provider availability and individual practice patterns, leading to potential treatment delays and inconsistencies in care from evidence-based recommendations.
Purpose: The purpose of this Doctor of Nursing Practice project was to improve the workflow and quality of gastrointestinal (GI) symptom management in an ambulatory palliative care clinic.
Framework: This project was guided by the Iowa Model Revised: Evidence-Based Practice to …

Optimizing Lactation Support: Enhancing Patient-Centered Care And Breastfeeding Self Efficacy Through Data-Driven Survey Analysis, Jessica L. Doshay

Doctor of Nursing Practice Final Manuscripts

Objective: The objective of this project was to implement evaluation of an integrated lactation support model within a multi‑site pediatric primary care organization to assess patient experience and breastfeeding confidence associated with a lactation consultation.

Background: Optimizing the patient experience is an indicator of healthcare quality. Improving breastfeeding outcomes remains a national priority. Structured lactation support delivered by International Board-Certified Lactation Consultants (IBCLCs) enhances breastfeeding outcomes, the impact of this is often undocumented in primary care settings.

Methods: This quality improvement project was conducted within the lactation department of a multicenter pediatric clinic in Southern California. Pediatric clinicians who were …

Rethinking Flow: The Paradox Of Renoprotection Without Increased Renal Blood Flow In Cardiopulmonary Bypass, Shiksha Mohan, Ronald A Shaju, Sharan Misra, Titiksha Sharma, Veeraj K Sirivolu, Abhinav Rajkumar, Anthony Rodas-Camacho, Aizah Zaidi, Dhruv Dhingra, Ilma Khan, Rishav Bhattacharya, Vishal Pancholy, Shivam Banerjee, Shreyo Ghosh, Shiyi Li, Kenneth K Liao, Carl P Walther, Nandan K Mondal

Faculty, Staff and Students Publications

No abstract provided.

Perinatal Mental Health Screening And Care Among Those With Pregnancy Complications, Alison N Goulding, Terri L Fletcher, Emily S Miller

Faculty, Staff and Students Publications

Perinatal mental health conditions are common and, without effective treatment, can contribute to adverse maternal and child outcomes. In the United States, mental health conditions are a leading cause of maternal morbidity and mortality, contributing to over 20% of pregnancy-related deaths. This expert review aims to assess current literature and provide recommendations regarding mental health care in high-risk patients who experience pregnancy complications. Individuals experiencing pregnancy complications are at increased risk for perinatal mental health conditions, including depression, anxiety, and post-traumatic stress disorder, as compared to those with uncomplicated pregnancies. Despite this increased disease burden, there is limited research on …

Mri-Based Deep Learning Radiomics Model For Automated Classification Of Disc Degeneration In The Lumbar Spine, Shiv Patil, Om Gandhi, Mert Karabacak, Matthew Carr, Konstantinos Margetis

Student Papers, Posters & Projects

Disc degeneration in the lumbar spine is a major cause of low back pain (LBP). The accurate grading of disc degeneration on magnetic resonance imaging (MRI) is critical for clinical management and patient selection for spine surgery. This study aims to develop and evaluate machine learning (ML) models that combine features from deep learning (DL) and radiomics for the automated prediction of Pfirrmann grade (PG), a measure of disc degeneration, using multi-parametric lumbar spine MRI. Sagittal T1, T2, and T2 SPACE MRIs of 218 patients with LBP were acquired from the SPIDER dataset. For each intervertebral disc and available sequence, …

Iterative Cannabis Care Plans Are Associated With Higher Rates Of Symptom Relief And Lower Side-Effect Burden In Oncology Patients, Brooke Worster, Md, Kristen Parton, Mba, Gregory Garber, Msw

Kimmel Cancer Center Papers, Presentations, and Grand Rounds

Background/Research Objective

Cannabis is increasingly used to manage cancer-related symptoms including pain, sleep disturbance, anxiety, and appetite or gastrointestinal complaints. However, patient responses are highly variable, clinicians report limited confidence in guiding use, and optimal dosing is difficult to predict from baseline characteristics. We evaluated whether an iterative, guided cannabis care model incorporating ongoing patient feedback and care-plan adjustments is associated with improved symptom relief and lower side-effect burden in a real-world oncology population.

Can Behavioral Interventions Promote Health Equity In Pediatric Type 1 Diabetes? A Narrative Review Of Promising Treatments, Paul T. Enlow, Jaquelin Flores Garcia, Julia Price, Kristen A. Torres, David V. Wagner

Department of Pediatrics Faculty Papers

Purpose of review: Synthesize data on whether existing behavioral interventions can improve health equity among youth with type 1 diabetes.

Recent findings: While existing behavioral interventions demonstrated efficacy in improving health and/or psychosocial outcomes, evidence that these same interventions may improve health equity were lacking. Most interventions were evaluated using predominantly White and affluent samples and some studies did not report on racial, ethnic, or sociodemographic characteristics of their sample. Only a few interventions have been adapted for youth from minoritized backgrounds. Recent multisystemic and technology/mHealth interventions recruited samples that were sociodemographically representative of youth experiencing disparities, suggesting that these …

Clinician Perspectives On Fistula Mental Health, Victoria K. Leonard

Doctoral Dissertations

Background – Obstetric fistula is a childbirth injury caused by prolonged labor that leads to stillbirth and incontinence, spurring social exclusion and isolation. These layers of trauma put women with fistula at great risk for psychological suffering, which has profound negative socioeconomic impacts on them, their families, and communities. This study captured treatment as usual at Comprehensive Community Based Rehabilitation in Tanzania (CCBRT), the country’s largest provider of fistula care.

Method – Improving holistic fistula treatment requires engaging the clinicians who care for women with fistula. This study aimed to investigate the training, beliefs, and treatment approaches of nurses and …

Coxfa4l2 Upregulation Preserves Residual Cytochrome C Oxidase Activity In Coxfa4-Related Leigh-Like Encephalopathy, Micol Falabella, Sandra Lopez Calcerrada, Jana Aref, Jiaze Gao, William L Macken, Chiara Pizzamiglio, Renata Kabiljo, Anna Lucia Francavilla, Pauline Gaignard, Antoine Pouzet, Jonathan Levy, Giulia Barcia, Jamie K Leighton, Efstathia Chronopoulou, Germaine Pierre, Riza Köksal Özgül, Ali Dursun, Rebecca Halligan, Helen Mundy, Javeria Raza Alvi, Tipu Sultan, William James Craigen, Lisa Emrick, Jill A Rosenfeld, Gehad Elmakkawy, Jihye Kim, Joseph J Gleeson, Aboulfazl Rad, Gabriela Oprea, Maqbool Hussain, Khalil Ur Rehman, Sadia Riaz, Robert W Taylor, Vincent Procaccio, Maha S Zaki, Erika Fernandez-Vizarra, Ciro Leonardo Pierri, Michael G Hanna, Henry Houlden, Reza Maroofian, Cristina Ugalde, Jan-Willem Taanman, Robert D S Pitceathly

Faculty, Staff and Students Publications

Primary mitochondrial diseases (PMDs) affect approximately 1 in 4300 individuals and cause early-onset neuromuscular and multisystem dysfunction with reduced lifespan. They result from pathogenic variants in mitochondrial or nuclear DNA that impair oxidative phosphorylation. Cytochrome c oxidase (COX; complex IV) deficiency is a well-established cause of PMD, leading to a broad spectrum of phenotypes. COXFA4 (cytochrome c oxidase subunit FA4), formerly NDUFA4, is a nuclear-encoded COX subunit, but its role in disease remains poorly defined. We report the largest genetically confirmed cohort of COXFA4-related PMD to date, comprising 13 individuals from 12 families with biallelic pathogenic COXFA4 variants. All present …

Patient-Reported Outcomes Following Operative And Nonoperative Management Of A3 Versus A4 Thoracolumbar Burst Fractures, Barry T. S. Kweh, Charlotte Dandurand, Alex R. Vaccaro, Klaus J. Schnake, Mohammad El-Sharkawi, Richard J J. Bransford, Andrei Fernandes Joaquim, Harvinder Singh Chhabra, Ulrich J. A. Spiegl, Dimitri Hauri, F. Cumhur Öner, Gregory D. Schroeder, Jin Wee Tee

Department of Orthopaedic Surgery Faculty Papers

OBJECTIVE: The aim of this study was to compare patient-report outcome measures in patients with thoracolumbar burst fractures managed either operatively or nonoperatively.

METHODS: A prospective multicenter observational study was conducted of neurologically intact patients who sustained traumatic thoracolumbar burst fractures managed operatively or nonoperatively. Outcome measures included scores on the EQ-5D index, EQ-5D visual analog scale (VAS), pain numerical rating scale (NRS), and AO Spine Patient Reported Outcome Spine Trauma (PROST) tool and patient satisfaction with follow-up up to 2 years. The Wilcoxon rank-sum test and Cochran-Armitage test were used to evaluate differences between continuous and ordinal variables, respectively. …

Gastrointestinal Symptoms After Sport-Related Concussion: Prevalence And Patterns In A Multi-Cohort Analysis, Emma Finnegan, Ed Daly, Katherine J. Hunzinger, Lisa Ryan

Department of Exercise Science Faculty Papers

Background/Objectives: Concussions occur across all sports globally; however, inconsistent symptom recognition continues to challenge diagnosis, management, and recovery. Although concussion effects extend beyond neurological dysfunction, gastrointestinal (GI) symptoms remain insufficiently captured within current assessment frameworks and may influence athletes’ fuelling choices and food tolerance during recovery. This study aimed to describe the prevalence and patterns of GI symptoms reported among athletes with a history of concussion and to explore whether symptom prevalence and burden differed by sex and country. Methods: A total of 401 adult athletes (225 males; mean age 32.4 ± 11.3 years) with a history of concussion were …

Correction: Misregulated Alternative Splicing In Endometriosis: A Role For Aberrant Mrna Variants In Endometriotic Cell Growth, Venkata Naga Goutham Davuluri, Michelle Dias, Roxanna Llinas, Neha Kamath, Pooja Popli, Shannon M Hawkins, Chandrakant Tayade, Elise T Courtois, Hari Krishna Yalamanchili, Ramakrishna Kommagani

Faculty, Staff and Students Publications

This corrects the article "Misregulated alternative splicing in endometriosis: a role for aberrant mRNA variants in endometriotic cell growth", 149.