Medical Specialties Commons^™

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 …

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.

Prognostic Value Of Stress Perfusion Cardiac Magnetic Resonance Imaging In Kawasaki Disease With Coronary Artery Aneurysms: A 10-Year Retrospective Cohort Study, Alexander J Kiener, S Kristen Sexson Tejtel, Aimee Liou, Carolyn A Altman, Tam T Doan

Faculty, Staff and Students Publications

Background: Kawasaki disease (KD) with coronary artery aneurysms (CAA) places patients at risk for myocardial ischemia and major cardiac events (MCE). While stress perfusion cardiac magnetic resonance imaging (spCMR) is used for surveillance, its prognostic value has not been established.

Methods: We conducted a retrospective cohort study of KD patients (AHA risk levels 3-5) who underwent clinically indicated vasodilator spCMR at a tertiary pediatric center between October 2014 and December 2024. We evaluated inducible perfusion defects, late gadolinium enhancement (LGE), ventricular function, and MCE (myocardial infarction, ventricular dysfunction, arrhythmia, revascularization, transplant, or death). We performed Cox regression and Kaplan-Meier analyses …

Myocardial T1 And T2 Values Are Associated With Patient Age In Healthy Pediatric Heart Transplant Recipients, Andrew A Lawson, Robyn G Lottes, Defne Magnetta, Andrada Popescu, Kae Watanabe, Cynthia K Rigsby, Michael Markl, Nazia Husain

Faculty, Staff and Students Publications

Background: In pediatric heart transplant recipients (PHTR), myocardial T1 and T2 values are elevated in the setting of acute rejection and with cardiac allograft vasculopathy. In normal, healthy children, T1 and T2 values vary with patient age. Our goal was to identify associations between T1, extracellular volume fraction (ECV), and T2 values and patient- and donor-characteristics in PHTR without history of significant graft pathology.

Methods: We performed a single-center, retrospective chart review of consecutive cardiac magnetic resonance (CMR) studies in PHTR from 2017 to 2023. Exclusion criteria were a prior CMR during the study period, history of any prior antibody-mediated …

How To … Coach Problem Representation To Strengthen Diagnostic Reasoning In Trainees, Cody Clary, Adam Cohen, Satid Thammasitboon

Faculty, Staff and Students Publications

Problem representation (PR) is a concise synthesis of clinical information that captures the core diagnostic problem in a single statement, often referred to as a 'one-liner'. Although central to diagnostic reasoning, this skill is frequently underdeveloped in medical training. Many trainees struggle to transform clinical data into meaningful representations, which can hinder communication, diagnostic reasoning and patient safety. The Assessment of Reasoning Tool-Reconstructed (ART-R) provides a structured framework that educators can adapt as a coaching rubric to strengthen PR during clinical teaching. Using the ART-R, faculty can guide trainees to refine their PR by focusing on three elements: (1) clarity …

Classification Of Gck-Mody In A Child With Mild Hyperglycemia And Islet Autoantibody Positivity: A Diagnostic Challenge, Aman N Yarlagadda, Maria J Redondo, Toni I Pollin, Mustafa Tosur, Colleen O Jodarski, Jennifer J Bell

Faculty, Staff and Students Publications

We report a 9-year-old female who presented with mild, persistent hyperglycemia, with hemoglobin A1c and oral glucose tolerance test results in the prediabetes range, relatively preserved C-peptide, and mildly positive glutamate decarboxylase 65 autoantibody levels. A strong family history of lean, noninsulin-dependent diabetes suggested a possible monogenic cause. Genetic testing with a 28-gene maturity-onset diabetes of the young (MODY) panel identified a heterozygous variant of uncertain significance in GCK (NM_000162.5:c.179C>T [p.Thr60Ile]). Following review by the ClinGen Monogenic Diabetes Variant Curation Expert Panel, the GCK variant was reclassified as pathogenic, confirming a diagnosis of glucokinase (GCK)-MODY/GCK-hyperglycemia, a stable …

Treatment Of Hemifacial Spasm With Endovascular Stenting Of The Vertebral Artery, Maximillian Feygin, Marcus Shee-Tzer Wong, Andrew Zhang, Ashwin Viswanathan, Omar Tanweer

Faculty, Staff and Students Publications

Background and importance: Hemifacial spasm (HFS) is a movement disorder characterized by involuntary spasms of the facial muscles that can lead to debilitating symptoms and is typically caused by vascular compression. Classically, microvascular decompression of the offending vessel is the gold standard; however, in certain cases, microvascular decompression may have increased risk because of patient comorbidities and underlying anatomy. In this report, we describe a unique endovascular approach with flow diversion for the treatment of HFS.

Clinical presentation: A 70-year-old woman presented to the clinic with a 5-year history of HFS on the right side progressing from the eye to …

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 …

Comprehensive Proteogenomic Characterization Reveals Clinically Relevant Molecular Subtypes Associated With Medulloblastoma Progression, Seong-Min Park, Kyung-Hee Kim, Jong Hyuk Yoon, Fulvio D'Angelo, Seung Ah Choi, Chan Il Kim, Harim Koo, Seungmin Park, Hyondeog Kim, Sreeja Sundara Raj, Sung Soo Kim, Ae Kyung Park, Eun Jung Koh, Seong-Ik Kim, Yu-Mi Shim, Lee Kwang-Hoon, Eric Eunshik Kim, Ji Hoon Phi, Yeon Suk Jo, Do Hyun Nam, Daehee Hwang, Do Young Hyeon, Sunghyun Huh, Hyung Joon Kwon, Seokjun Ha, Sanha Park, Hyeji Shin, Jeong Taik Kwon, Heon Yoo, Ho-Shin Gwak, Michael D Taylor, Bong Jin Park, Jason K Sa, Youngwook Kim, Antonio Iavarone, Sung-Hye Park, Seung-Ki Kim, Jong Bae Park

Faculty, Staff and Students Publications

Current treatment strategies for medulloblastoma remain ineffective owing to extensive tumor heterogeneity. We generated five platforms of omics data including liquid chromatography and mass spectrometry-based proteome and performed integrated multi-omic characterization to improve the conventional molecular classification of medulloblastoma. We identified seven refined distinct subtypes. The sonic hedgehog (SHH) group was reclassified into two subgroups, SHHα and SHHβ, whereas group 4 was divided into three subgroups, G4α, G4β, and G4γ. SHH and group 4 subtypes exhibit two distinct neuronal differentiation trajectories: granular neuron and unipolar brush cell differentiation (SHHβ and G4γ, respectively), both of which associated with more favorable clinical …

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 …

Fetal Instability And Resuscitative Management During Fetal Intervention: A Retrospective, Descriptive Analysis Of 245 Fetal Cardiac And Spina Bifida Procedures, Claire A Naus, Betul Yilmaz Furtun, Jessian L Munoz, Rebecca M Johnson, Carolyn A Altman, Michael A Belfort, Luc Joyeux, Alice King, David G Mann, Shaine Morris, Athar M Qureshi, Magdalena Sanz Cortes, William E Whitehead, Caitlin D Sutton

Faculty, Staff and Students Publications

Objective: The heterogeneity of fetal surgery has led to variability in the nature and frequency of fetal instability. Understanding these differences is critical for optimizing management.

Methods: We reviewed all fetal atrial septal interventions (FASI) and fetoscopic myelomeningocele (fMMC) repairs with fetal instability performed at our institution between March 2012 and April 2025. We described and compared the frequency, timing, etiology, and management of fetal instability.

Results: During the study period, 28 unique patients underwent 35 FASI procedures, and 210 patients underwent fMMC repair. Fetal instability occurred in 51 of 245 cases (20.8%), with rates varying significantly by procedure type …

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 …

Extracorporeal Membrane Oxygenation, Acute Kidney Injury, Fluid Balance, And Continuous Renal Replacement Therapy: Acute Disease Quality Initiative (Adqi) And Extracorporeal Life Support Organization (Elso) Joint Consensus Conference, Katja M Gist, David T Selewski, Kianoush B Kashani, Ayse Akcan-Arikan, Gail Annich, Marta V Antonini, David Askenazi, Linda Awdishu, Brian C Bridges, Michael J Connor, Lui G Forni, Dana Y Fuhrman, Stuart L Goldstein, Stephen M Gorga, Pramod K Guru, Ahmad Kaddourah, Alex Lepage-Farrell, D Michael Mcmullan, Ravindra L Mehta, Shina Menon, Theresa Mottes, Thomas Müeller, Marlies Ostermann, Matthew L Paden, Natalie E Rintoul, Thiago Reis, Claudio Ronco, Emily See, Gurmeet Singh, Sean M Bagshaw, Graeme Maclaren

Faculty, Staff and Students Publications

Extracorporeal membrane oxygenation (ECMO) is increasingly being utilized for life-threatening cardiac and/or respiratory failure refractory to conventional treatment. Acute kidney injury (AKI) and fluid balance disorders commonly occur both before and during ECMO, with approximately half of cases receiving treatment with continuous renal replacement therapy (CRRT). Acute kidney injury, fluid balance disorders, and CRRT influence both short- and long-term outcomes in this population. The 36th Acute Disease Quality Initiative (ADQI) meeting was held in June 2025 to develop multidisciplinary international expert recommendations for AKI, fluid balance, and CRRT during ECMO across the age spectrum. This work encompassed five working groups: …

Plasma Biomarkers Of Brain Injury In Critically Ill Children Receiving Extracorporeal Membrane Oxygenation, Matthew L Friedman, Michael J Bell, Bonnie A Brooks, Adam S Himebauch, Asavari Kamerkar, Kerri Larovere, Laura L Loftis, Jose A Pineda, Ahmed Said, Hitesh S Sandhu, Martin Stengelin, Catherine Demos, Mark S Wainwright, Alina N West, Allan Barnes, Allen D Everett, Ryan J Felling, Sue J Hong, Jennifer L Roem, Cynthia F Salorio, Derek K Ng, Melania M Bembea

Faculty, Staff and Students Publications

Importance: Timely identification of acute brain injury (ABI) in children receiving extracorporeal membrane oxygenation (ECMO) support is critical for early neuroprotective interventions.

Objectives: To determine if elevations in plasma glial fibrillary acidic protein (GFAP), neurofilament light chain (NfL), and tau levels in children receiving ECMO precede new ABI confirmed by neuroimaging, and if they are associated with mortality and functional outcomes.

Design, setting, and participants: This was a prospective observational cohort study conducted from 2019 to 2023, with 18-month follow-up completed in 2025. Children aged 2 days to younger than 18 years at ECMO cannulation were recruited from 11 US …

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.

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 …

Retrospective Analysis Of A Washu-Based Knowledge-Based Planning (Kbp) Model For Breast And Chest Wall Planning In Guatemala: Compliance With American Society For Radiation Oncology (Astro) 2026 Guidelines, Milton E Ixquiac Cabrera, Erick O Montenegro, Matthew Schmidt, Baozhou Sun, James A Kavanaugh, Taoran Li, Angel Velarde, Vicky De Falla, Francisco Reynoso

Faculty, Staff and Students Publications

Background/purpose

Breast cancer is among the most prevalent malignancies treated at the Liga Nacional Contra el Cáncer (LNCC) in Guatemala, representing a significant proportion of annual radiotherapy cases. Access to high-quality, standardized treatment planning in resource-constrained settings remains a critical challenge. This study evaluates the dosimetric performance of knowledge-based planning (KBP) models adapted from Washington University (WashU) in St. Louis for breast and chest wall radiotherapy at LNCC, validated against a retrospective 2025 clinical cohort, and benchmarked against the ASTRO 2026 Practical Radiation Oncology guidelines.

Materials and methods

A retrospective analysis of 84 treatment plans (40 left, 44 right) for …

A Phase 4, Open-Label, Non-Randomized, Multicenter Study To Evaluate Efficacy (And Safety) Of Intravenous Administration Of Optison For Contrast-Enhanced Echocardiography In Pediatric Patients, Arash Sabati, Shuo Wang, Pushpa Shivaram, Joshua Hawley, David Thompson, Francine Erenberg, Shelby Kutty, Aparna Kulkarni, Tam T Doan, Joshua D Robinson

Faculty, Staff and Students Publications

Contrast-enhanced echocardiography (CE-echo) is commonly used in adult patients to optimize endocardial border delineation (EBD) but there is limited experience in children. A prospective, open-label, non-randomized, multicenter study was performed to evaluate the efficacy of intravenous Optison for CE-echo in pediatric patients and determine the optimal dose of Optison. Subjects ≥ 9 and <  18 years with suboptimal echocardiograms (defined as ≥ 2 contiguous segments that could not be adequately visualized) were enrolled. After a baseline non-contrast echocardiogram (NC-echo), CE-echo was performed with 2 dose levels of Optison based on patient weight. The primary endpoint was visualization of the LV wall segments (LVWS) in apical 2- and 4-chamber views. An EBD score was calculated by assigning a value from 0 (no visualization) to 3 (optimal visualization) for 12 LVWS. 37 subjects across 8 sites completed the study. 30 had complete echocardiograms at both dose levels. 2 patients had usable images at dose 2 only. Mean age was 13.4 years (± 2.6) with 23 males (62%). Mean weight was 73.9 kg (± 36.8) with wide distribution of weight (interquartile range of 42-102 kg). There were 8 patients under 40 kg. Most subjects had a prior medical/surgical history (n = 33, 89%). Both dose levels of Optison CE-echo improved the number of LVWS visualized from 3.7 ± 1.1 on NC-echo to 10.0 ± 0.1 with dose 1 (p <  0.001) and 10.5 ± 0.1 with dose 2 (p <  0.001). EBD score also improved at both dose levels from 11.9 ± 2.5 for NC-echo to 28.5 ± 1.7 for dose 1 (p <  0.001) and 30.2 ± 8.4 for dose 2 (p <  0.001). The number of suboptimal echocardiograms improved from 92.3% ± 10.7 in NC-echo to 26.2% ± 9 with dose 1 (p <  0.001) and 30.8% ± 4.5 with dose 2 (p <  0.001). CE-echo with intravenous Optison in pediatric patients improved the number of LVWS visualized, improved EBD score, and reduced the number of suboptimal echocardiograms at both dosages used in this study. Intravenous Optison can improve LV visualization in pediatric patients with suboptimal echocardiograms.

Exploring Csf Microrna Signatures As Diagnostic Biomarkers In Adult-Type Diffuse Gliomas, Maryam Pirhoushiaran, Kamilah Walker-Charles, Tsung-Hung Yao, Satwikreddy Putluri, Nehal Patel, Daniel H Wang, Isabel Wang, Srividya Arjuna, Antonio Dono, Angel Bueno, Sophia Nguyen, Ashish P Balar, Jason T Huse, Suprateek Kundu, Yoshua Esquenazi, Chirag B Patel, Sujit S Prabhu, Frederick F Lang, Leomar Y Ballester

Faculty, Staff and Student Publications

Mutations in isocitrate dehydrogenase (IDH) genes, specifically IDH1 and IDH2, are frequently observed in diffuse gliomas (DG) and define distinct molecular subtypes, namely IDH-wildtype and IDH-mutant. Abnormal expression of extracellular vesicle-derived microRNAs (EV-miRNAs) in the cerebrospinal fluid (CSF) of DG patients may serve as minimally invasive diagnostic and prognostic biomarkers. To investigate this potential, we employed miRNA-sequencing (miRNA-seq), quantitative real-time PCR (qRT-PCR), and multivariable logistic regression (MLR) to identify differentially expressed microRNAs (DE-miRNAs) in CSF samples from DG patients. qRT-PCR analysis demonstrated that EV-miR-21-5p effectively differentiated CSF from glioblastoma (GBM) patients versus controls (p = 0.012, AUC = 0.84) and …

Exploring Csf Microrna Signatures As Diagnostic Biomarkers In Adult-Type Diffuse Gliomas, Maryam Pirhoushiaran, Kamilah Walker-Charles, Tsung-Hung Yao, Satwikreddy Putluri, Nehal Patel, Daniel H Wang, Isabel Wang, Srividya Arjuna, Antonio Dono, Angel Bueno, Sophia Nguyen, Ashish P Balar, Jason T Huse, Suprateek Kundu, Yoshua Esquenazi, Chirag B Patel, Sujit S Prabhu, Frederick F Lang, Leomar Y Ballester

Faculty, Staff and Student Publications

Mutations in isocitrate dehydrogenase (IDH) genes, specifically IDH1 and IDH2, are frequently observed in diffuse gliomas (DG) and define distinct molecular subtypes, namely IDH-wildtype and IDH-mutant. Abnormal expression of extracellular vesicle-derived microRNAs (EV-miRNAs) in the cerebrospinal fluid (CSF) of DG patients may serve as minimally invasive diagnostic and prognostic biomarkers. To investigate this potential, we employed miRNA-sequencing (miRNA-seq), quantitative real-time PCR (qRT-PCR), and multivariable logistic regression (MLR) to identify differentially expressed microRNAs (DE-miRNAs) in CSF samples from DG patients. qRT-PCR analysis demonstrated that EV-miR-21-5p effectively differentiated CSF from glioblastoma (GBM) patients versus controls (p = 0.012, AUC = 0.84) and …

Nlrp3 Inflammasome: A Link Between Systemic Infection And Alzheimer’S Disease, Tatiana Barichello, Felipe Dal-Pizzol

Faculty, Staff and Student Publications

No abstract provided.

Ldm-Morph: Latent Diffusion Model Guided Deformable Image Registration, Jiong Wu, Tinsu Pan, Kuang Gong

Faculty, Staff and Student Publications

Deformable image registration plays an essential role in various medical image tasks. Existing deep learning-based deformable registration frameworks primarily utilize convolutional neural networks (CNNs) or Transformers to learn features to predict the deformations. However, the lack of semantic information in the learned features limits the registration performance. Furthermore, the similarity metric of the loss function is often evaluated only in the pixel space, which ignores the matching of high-level anatomical features and can lead to deformation folding. To address these issues, in this work, we proposed LDM-Morph, an unsupervised deformable registration algorithm for medical image registration. LDM-Morph integrated features extracted …

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 …

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 …

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.

Associations Among Pork Intake, Weight-Loss, And Diet Quality Outcomes In A Commercial Weight-Management Program, Ana M Palacios, Grace Anderson, Beate Henschel, Alexandra M Lee, Kelli M Richardson, Chelsie Parker, Stephanie L Dickinson, Jing X Kersey, David B Allison, Gary D Foster, Michelle I Cardel

Faculty, Staff and Students Publications

Background: Pork is a common source of high-quality protein. However, it is typically recommended in moderation due to its saturated fat content, especially as its role in weight management, weight-loss (WL) programs, and overall diet quality is not well understood. This study aimed to identify associations among pork intake, WL, and diet quality among adults with overweight or obesity participating in a weight management program (WMP).

Methods: This secondary analysis used data from a 6-month randomized controlled trial (NCT05648344) evaluating the effectiveness of a WMP on diet quality. Data were collected through online surveys and the Automated Self-Administered …

Development Of A Second-Generation Rarα Selective Antagonist As An Orally Bioavailable, Effective, Safe, And Reversible Male Contraceptive, Rui Shi, Kristen John, Xuan Qin, Ehfazul Haque, Taimeng Liang, Narsihmulu Cheryala, Feng Li, Henry L Wong, Gunda I Georg

Faculty, Staff and Students Publications

We report the design and SAR studies of benzopyran-, benzofuran-, and benzothiophene-derived inhibitors of the retinoic acid receptor alpha (RARα) for male contraception. SAR studies identified critical features influencing activity, such as the optimal positioning of antagonism moieties and substituents, leading to the discovery of (S)-4-(5-(2,8-dimethyl-5-(p-tolyl)-2H-chromen-3-yl)-1H-pyrrol-2-yl)­benzoic acid (compound 23). Compound 23 is a highly potent RARα inhibitor (IC50 = 0.051 nM) with excellent selectivity (>1650-fold over RARβ and >1960-fold over RARγ) and ADMET properties. Compound 23 is orally bioavailable and reduces sperm counts in mice for a full male contraceptive effect …