Medical Specialties Commons^™

Role Of Device Therapy In Complementing Contemporary Medical Management, Yoel Benarroch, Natalie Tapaskar, Amin Yehya

Department of Medicine Faculty Publications

Heart failure (HF) is a clinical syndrome characterized by signs and symptoms resulting from any structural or functional deficiency of ventricular filling or blood ejection. The mainstay of initial treatment remains lifestyle modifications, guideline-directed medical therapy, and addressing contributing factors. However, the past two decades have come with significant advances in device therapies to improve morbidity and mortality in HF despite evidence-based management as above. Given the rapidly evolving area of HF research and therapeutic development, it is important for clinicians to be familiar with novel therapies and how they can complement medical management. In this review we discuss the …

A Case Displaying The Importance Of Jak1 And Jak2 Gene Transcription In Antifungal Defense Against Coccidioidomycosis, Jennifer K. Priessnitz, Taylor Colore, Nelson Nicolasora

Department of Medicine Faculty Publications

This case report explores the consequences of ruxolitinib via inhibition janus kinase 1 (JAK1) and JAK2 pathways in the context of fungal defense in a patient diagnosed with pulmonary coccidioidomycosis during ruxolitinib therapy for polycythemia vera. The patient experienced a relapse of pulmonary coccidioidomycosis after antifungal treatment was discontinued while continuing ruxolitinib use. This case illustrates the heightened risk of discontinuing antifungal therapy in endemic regions, emphasizing the critical need for continued monitoring. Furthermore, this case underscores the vital role of the JAK1 and JAK2 signaling cascade, particularly the interferon-gamma (INF-γ)-JAK1 and JAK2-signal transducer and activator of transcription 1 (STAT) …

Percutaneous Closure Of A Left Ventricular Pseudoaneurysm Using A Post-Infarct Vsd Device Guided By Intracardiac Echocardiography, Omar Jafar, Nicholas Valle, Rupinder Bahniwal, Matthew Summers

Department of Medicine Faculty Publications

Left ventricular pseudoaneurysm (LVPA) is a rare, life-threatening complication that may arise after cardiac surgery, myocardial infarctions, or infective endocarditis. We present a case of a 55-year-old woman with complex surgical history and prior infective endocarditis who developed an incidental LVPA. Due to lack of surgical repair options, a percutaneous approach was pursued using a post-infarct ventricular septal defect device (PIVSD) under guidance of fluoroscopy and intracardiac echocardiography (ICE) guidance with successful exclusion of LVPA. This case highlights the utility of multimodal imaging in the percutaneous management of complex left ventricular lesions.

Exploring The Role Of 5-Hydroxymethyl-2-Furfural And Sumiki's Acid In Beta-Cell Metabolism, Daiwik Munjwani, Demitrius Hill, David Regan, David Lee, Mike Muehlbauer, Hans-Ewald Hohmeier, Mette Jensen, Neolle E. Younge, James Bain

Department of Medicine Faculty Publications

Type 1 diabetes (T1D), a leading cause of mortality in the United States, is associated with heart disease, nephropathy, neuropathy, retinopathy, and stroke. While management of T1D with medications and healthy lifestyle choices is critical, recent research highlights the contributory role of environmental diabetogens in the pathogenesis of T1D. Here, we propose that the furan compound, 5-hydroxymethyl-2-furfural (HMF), which forms when hexoses such as glucose or fructose lose three water molecules during thermal food processing, might be an unrecognized dietary diabetogen. HMF is a suspected mutagen and carcinogen. In a previous experiment in the rat 832/13 beta-cell line, when cultures …

Sarcoidosis With Isolated Osseous Manifestations Mimicking Metastatic Malignancy, Ahmed Ismail, Ahmed Saleh, Yanis Boumber

Department of Medicine Faculty Publications

Sarcoidosis is an inflammatory disease of unknown etiology that commonly involves multiple organ systems, with the lungs and lymph nodes most frequently affected. Osseous involvement, although recognized, is considered uncommon and often overlooked due to its nonspecific clinical and radiographic features. Patients may be asymptomatic or present with pain, swelling, and functional limitations of the affected limb. Imaging can reveal findings such as bone lesions that mimic malignancy, including lytic or sclerotic changes. Diagnosis relies on histopathological confirmation of non-caseating granulomas. Treatment is directed at symptom relief and preservation of limb function. Here, we present a rare case of isolated …

Fibrinolysis For Apical Thrombus As A Bridge To Emergent Valve-In-Valve Transcatheter Aortic Valve Replacement, Nicholas J. Valle, Omar A. Saleh, Mani C. Akunuri, Parth K. Parikh, Joshua A. Cohen, Deepak R. Talreja, Matthew R. Summers

Department of Medicine Faculty Publications

Background

Left ventricular (LV) thrombus is traditionally a contraindication to transcatheter aortic valve replacement due to embolic risk. Consequently, management of valvular cardiogenic shock complicated by LV thrombus identifies unique challenges that require innovative strategies.

Case Summary

A 58-year-old woman with critical bioprosthetic aortic stenosis, cardiogenic shock, and large LV thrombus (2.8 × 2.6 cm) underwent successful valve-in-valve transcatheter aortic valve replacement after systemic fibrinolysis bridge therapy.

Why Beyond the Guidelines

Current guidelines contraindicate transcatheter aortic valve replacement in patients with LV thrombus. This case demonstrates the novel use of low-dose, slow infusion tissue plasminogen activator as a bridge therapy …

Cardiomyopathies Of Endocrine Origin: A State-Of-The-Art Review, Jenyfer M. Fuentes-Mendoza, Marcio J. Concepción-Zavaleta, Juan C. Morón-Siguas, Juan M. Muñoz-Moreno, Aranza I. Pérez-Reyes, Rodrigo Martinez-Galaviz, Raúl D. Aguilar-Castañeda, Oziel González-Godoy, Luis A. Concepción-Urteaga, José Paz-Ibarra

Department of Medicine Faculty Publications

Endocrine disorders are increasingly recognized as potentially reversible causes of secondary cardiomyopathies, yet they often remain underdiagnosed in clinical practice. These conditions-including thyroid dysfunction, acromegaly, pheochromocytoma, diabetes mellitus, adrenal disorders, among others-can significantly alter cardiac structure and function through hormonal excess, metabolic remodeling, and neurohumoral activation. Hyperthyroidism may lead to high-output heart failure (HF) and atrial fibrillation, while hypothyroidism is associated with diastolic dysfunction, pericardial effusion, and accelerated atherosclerosis. Acromegaly promotes biventricular hypertrophy and myocardial fibrosis via insulin-like growth factor 1 overproduction. Pheochromocytoma triggers catecholamine-induced cardiomyopathy, resembling Takotsubo syndrome and carrying a high risk of mortality if left untreated. Diabetes …

Micro/Nanoplastics And Cancer: Focus On Gastrointestinal Malignancies - A Narrative Review, Sana Rabeeah, Priyata Dutta, Ahmad Mahdi, Alejandra Vargas, Edward C. Oldfield, David A. Johnson

Department of Medicine Faculty Publications

Micro- and nanoplastics (MNPs) are plastic particles smaller than 5 mm and 1 μm, respectively, and are emerging environmental pollutants with growing implications for human health. These particles stem from either 'primary sources', such as intentionally manufactured microbeads and industrial abrasives, or 'secondary sources', where larger plastic items break down into smaller fragments over time. Human exposure primarily occurs through ingestion and inhalation, with contaminated seafood and plastic-laden food packaging representing key routes of entry. Once ingested, MNPs can cross the intestinal barrier, accumulate in gastrointestinal (GI) tissues, and trigger biological responses. Mechanistic studies reveal that MNPs induce oxidative stress, …

Blunt Trauma Causing Thrombotic Occlusive Myocardial Infarction, Jace Bradshaw, Alleabelle Bradshaw, Rishab Agarwal, P. Logan Weygandt

Department of Medicine Faculty Publications

Introduction: Traumatic myocardial infarction (TMI) is a rare but serious complication of blunt chest trauma, typically arising from coronary artery dissection, intramural hematoma, or myocardial contusion. Early recognition and intervention are critical, but diagnosis can be challenging given the broad differential for chest pain in trauma patients.

Case presentation: A 66-year-old female presented to a quaternary academic emergency department after a motor vehicle collision with progressive chest pain. Initial electrocardiogram (ECG) showed hyperacute T-waves in lead III, ST depression with T-wave inversion in aVL, and ST depression in V2, with posterior leads revealing ST elevation in V7–V9. Trauma imaging ruled …

Prevalence Of Electrocardiographic Changes And Risk Factors For Qtc Prolongation Among Steady State Sickle Cell Disease Patients: Cooperative Study Of Sickle Cell Disease, Mohammed B. Nawaiseh, Rund R. Haddadin, Yara B. Nawaiseh, Mohammad Z. Salameh, Abdallah A. Shurman, Osama Abu-Shawer, Asma I. Aljesrawi, Ibrahim A. Abuelbeh, Allaa Roto, Hadil Zureigat, Lana Mango, Munir Q. Zaqqa, Hanna K. Al-Makhamreh, Nakhleh Abu-Yaghi

Department of Medicine Faculty Publications

Objectives: Sickle cell disease (SCD) is associated with several cardiovascular adverse events. Corrected QT (QTc) interval prolongation is one of the potential life-threatening complications that predispose patients to sudden cardiac death. This study aims to assess the prevalence of electrocardiogram (ECG) changes and to investigate risk factors associated with increased propensity of QTc prolongation. Methods: This study utilized data from the Cooperative Study of Sickle Cell Disease Cardiac Ancillary Study. QT intervals were corrected using the Bazett formula, and prolongation was defined using sex-specific thresholds. The study population included African American patients with steady-state SCD across four clinical centers located …

Does Mean Arterial Pressure Augmentation Improve Neurological Recovery Of Blunt Spinal Cord Injuries: An East Multicenter Trial., Aimee Lariccia, Stephanie Doris, Bhairav Shah, Tanisha Kashikar, Erik Teicher, Lindsey Perea, Jennifer Huber, Malia Eischen, H Akin Erol, Michael Steven Farrell, Lauren Colom, Stephanie Scott, Brian Daley, James Bardes, Gregory Schaefer, Melissa Moncrief, William Devoe, Ryan Peter Dumas, Caitlin Anne Fitzgerald, William Brigode, John D Berne, Dalier R Mederos, Scott Armen, Melissa Linskey Dougherty, Asanthi Ratnasekera, Emily Alberto, Alison Smith, Bradley M Dennis, Stephen Gadomski, Jeffry Nahmias, Claudia Alvarez, Salina Wydo, Jennifer Schweinsburg, Carlos H Palacio, M Chance Spalding, Joshua Hill

Trauma and Acute Care Articles

BACKGROUND: Treatment of blunt traumatic spinal cord injuries (SCIs) often includes maintaining elevated mean arterial blood pressures (MAP) to enhance perfusion to the spinal cord. Optimal hyperperfusion protocols and treatment algorithms have yet to be delineated due to a paucity of large volume prospective studies. This study aims to identify predictors of neurological improvement in American Spinal Injury Association (ASIA) impairment score following blunt SCI.

STUDY DESIGN: Prospective (January 10, 2021 to June 1, 2023) multicenter study included blunt SCI patients age >18 with complete neurological examination documented on hospital arrival. Patients were divided into two groups: neurological improvement and …

Epicardial Cryoablation During Cardiopulmonary Bypass In A Pig Survival Model, Federica Serra, Jonathan M. Philpott, Anna Bulysheva, Christian W. Zemlin

Electrical & Computer Engineering Faculty Publications

Objective

Atrial cryolesions are usually created from the endocardium with the heart arrested. Some cardiac surgeons have used cryoablation epicardially during cardiopulmonary bypass, which is convenient because it does not require an incision into the atrial wall. Here, we analyzed the transmurality of epicardial cryoablations created during cardiopulmonary bypass in an arrested heart 30 days after ablation.

Methods

In Yucatan minipigs (n=5), hearts were exposed via sternotomy. Both caval veins were cannulated to collect blood for the cardiopulmonary bypass. Cryolesions were created applying a cryoprobe for 4 minutes per lesion. Hearts were harvested 30 days after the surgery. The transmurality …

Incorporating Insulin Into Alginate-Chitosan 3d-Printed Scaffolds: A Comprehensive Study On Structure, Mechanics, And Biocompatibility For Cartilage Tissue Engineering, Afsaneh Jahani, Mohammad Sagdegh Nourbakhsh, Ali Moradi, Marzieh Mohammadi, Lobat Tayebi

Electrical & Computer Engineering Faculty Publications

Osteoarthritis is a leading cause of disability worldwide, challenging current treatments to limited cartilage self-healing capacity. Cartilage tissue engineering (CTE) integrates cells, scaffolds, and signaling molecules, with Insulin being utilized as a differentiation biomolecule due to cost-effectiveness, dose-dependent influence on chondrogenesis, suitable biological activity, and ability to activate relevant receptors. Yet, administering differentiation biomolecules through conventional scaffolds poses a persistent challenge. Alginate (Alg) is commonly employed in CTE for its biocompatibility, though it lacks sufficient mechanical properties. Chitosan (Cs), while enhancing scaffold mechanical properties, but does not independently provide optimal support for chondrogenesis. While Alg-Cs scaffolds have garnered attention, challenges …

Obesity Prediction From Structural Mri Using Conformal Deep Learning With Uncertainty Quantification, W. Farzana, A. G. A. Temtam, B. Humud-Arboleda, L. Ma, M. Bean, F. Gerard Moeller, K. M. Iftekharuddin

Electrical & Computer Engineering Faculty Publications

Obesity arises from a neurobehavioral disorder in which the brain’s regulation of hunger and food intake is impaired, leading to an imbalance between energy consumption and expenditure. One key phenotype associated with obesity is body mass index (BMI). BMI is influenced by multiple causal pathways driven by behavioral, metabolic, and genetic factors. Traditional obesity prediction studies often rely on magnetic resonance imaging (MRI) voxel-based morphometry to correlate BMI with obesity-related clinical measurements and brain structure, predominantly gray matter volume (GMV). However, the altered brain regions are variable and widespread between studies, with some literature presenting contradictory results between BMI and …

Personalized Prediction Of Tumor Recurrence With Image-Guided Physics-Informed Computational Model In High-Grade Gliomas, Walia Farzana, Khan M. Iftekharuddin

Electrical & Computer Engineering Faculty Publications

High grade gliomas are infiltrating tumors characterized by their diffusive invasion and proliferative growth. Across and within patients heterogeneity of tumors makes it challenging to determine tumor spatial extent after surgical resection. Traditionally, tumor growth predictions after surgical resections rely on generalized models and population-based observations, which do not account for individual patient differences. To address this gap, we propose a personalized approach with image-guided computational model (digital twin) that incorporates physics-based modeling to predict tumor recurrence. Our digital twin involves an inverse modeling step, followed by a recurrence model that accounts for varying surgical effects. The physics-guided inverse model …

Key Brain Region Identification In Obesity Prediction With Structural Mri And Probabilistic Uncertainty Aware Model, Walia Farzana, Megan A. Witherow, Ahmed Temtam, Liangsuo Ma, Melanie Bean, F. Gerry Moeller, K. M. Iftekharuddin

Electrical & Computer Engineering Faculty Publications

Objectives/Goals: Predictive performance alone may not determine a model’s clinical utility. Neurobiological changes in obesity alter brain structures, but traditional voxel-based morphometry is limited to group-level analysis. We propose a probabilistic model with uncertainty heatmaps to improve interpretability and personalized prediction. Methods/Study Population: The data for this study are sourced from the Human Connectome Project (HCP), with approval from the Washington University in St. Louis Institutional Review Board. We preprocessed raw T1-weighted structural MRI scans from 525 patients using an automated pipeline. The dataset is divided into training (357 cases), calibration (63 cases), and testing (105 cases). Our probabilistic model …

A Fast Framework For Generating Radioactive Mixture Spectra And Its Application To Remote High-Performance Mixture Identification, Chiman Kwan, Bulent Ayhan, Adam Stavola, Kazi Aminul Islam, Hongfang Zhang, Jiang Li

Electrical & Computer Engineering Faculty Publications

Remote detection of radioactive materials in mixtures using handheld or portal detectors remains a challenge because of factors such as low concentration, environmental interference, sensor noise, and other complications. This work introduces a fast framework for generating realistic mixture spectra. Moreover, we present mixture isotope identification using data generated by the fast framework. Researchers have examined a range of conventional and recent algorithms within the fields of machine learning and deep learning. An application to uranium enrichment-level prediction has been included. Extensive simulation experiments validated the efficacy of the proposed framework.

A Method For Ultrasound Servo Tracking For Puncture Needle, Shitong Ye, Bo Yang, Hao Quan, Shan Liu, Minyu Tang, Jiawei Tian

Electrical & Computer Engineering Faculty Publications

Computer-aided surgical navigation technology helps and guides doctors to complete the operation smoothly, which simulates the whole surgical environment with computer technology, and then visualizes the whole operation link in three dimensions. At present, common image-guided surgical techniques such as computed tomography (CT) and X-ray imaging (X-ray) will cause radiation damage to the human body during the imaging process. To address this, we propose a novel Extended Kalman filter-based model that tracks the puncture needle-point using an ultrasound probe. To address the limitations of Kalman filtering methods based on position and velocity, our method of Kalman filtering uses the position …

A Customized Large Single-Piece Bifrontal Implant For Post-Craniectomy Defect Reconstruction: A Case Study, Omid Ghaderzadeh, Ehsan Amirbeyk, Seyed Roholah Ghodsi, Zahra Namazi, Lobat Tayebi

Electrical & Computer Engineering Faculty Publications

Background: Large bifrontal defects pose unique reconstruction challenges due to their complex curvature and mechanical requirements. This case demonstrated how computer-aided design/manufacturing (CAD/CAM) enabled precise single-piece polymethyl methacrylate (PMMA) implant fabrication, thereby overcoming traditional limitations. Case presentation: A 25-year-old male who had undergone bifrontal decompressive craniectomy suffered a severe traumatic brain injury. The autologous bone flap had been temporarily stored in a subcutaneous fat area of the abdomen for 3 months to preserve its viability. A secondary cranioplasty was then performed using titanium miniplates and self-tapping screws for final fixation. After 2 years, the patient developed empyema and a brain …

Novel Micro-And Nanoformulations Of Paclitaxel For Targeting Metastatic Breast, Non-Small Cell Lung, And Pancreatic Cancers, Lobat Tayebi, Mehran Alavi

Electrical & Computer Engineering Faculty Publications

Nonlinear pharmacokinetics resulting from high lipophilic and low oral bioavailability, and hypersensitivity reactions and hyperlipidemia caused by formulation by Cremophor EL have limited clinical effectiveness of paclitaxel (Taxol). In this way, there is the critical necessity of innovative drug delivery systems (DDSs) to mitigate severe side effects and overcome clinical limitations of paclitaxel. In recent years, various micro- and nanoformulations, specifically polymeric nanoparticles (NPs) and lipid NPs, have been presented and approved by the Food and Drug Administration (FDA). In addition, other nanoformulations, such as polymeric nanoparticles (NPs), micelles, liposomes, and mesoporous silica nanoparticles, have shown promising results in vitro …

Comparative Effectiveness Of High-Intensity Interval Training And Moderate-Intensity Continuous Training On Cardiometabolic Health In Patients With Diabesity: A Systematic Review And Meta-Analysis Of Randomized Controlled Trials, Sameer Badri Al-Mhanna, Eric Tsz-Chun Poon, Barry A. Franklin, Mark A. Tarnopolsky, John A. Hawley, John M. Jakicic, Emmanuel Stamatakis, Jonathan P. Little, Linda S. Pescatello, Deborah Riebe, Walter R. Thompon, James S. Skinner, Sheri R. Colberg, Jonathan K. Ehrman, George S. Metsios, Helen T. Douda, Norsuhana Omar, Abdullah F. Alghannam, Alexios Batrakoulis

Human Movement Studies & Special Education Faculty Publications

Objective

To evaluate the effects of high-intensity interval training (HIIT) on cardiometabolic health-related outcomes in patients with type 2 diabetes mellitus and concurrent overweight/obesity (diabesity).

Design

Systematic review and meta-analysis of randomized controlled trials (RCTs).

Data sources

PubMed, Web of Science, Scopus, Science Direct, Cochrane Library, and Google Scholar databases were searched from inception up to January 31, 2025.

Eligibility criteria for selected studies

RCTs comparing HIIT alone ≥ 2 weeks in duration with moderate-intensity continuous training (MICT). Participants were adults with diabesity.

Results

A total of 26 RCTs qualified, involving 790 patients (50/50 female/male ratio; age: 59.8 ± 12.9 …

The Efficacy Of Physical Activity Or Exercise Among Individuals With Cerebral Palsy: An Umbrella Review Of Systematic Reviews, Majed M. Alhumaid, Faris Yahya I. Asiri, Mohamed A. Said, Justin A. Haegele

Human Movement Studies & Special Education Faculty Publications

Introduction

Cerebral palsy (CP) is the most common childhood disability, affecting 1.5-3 per 1000 live births. Physical exercises have been shown to improve muscle and limb outcomes in CP. This systematic review critically appraises existing systematic reviews on the effects of physical activity and exercise on physical, functional, and psychosocial outcomes in individuals with CP compared to those without.

Methods

Using a PICO framework, the question was: In patients with CP, do physical activity and exercise improve muscle- and limb-related outcomes compared to no intervention or usual care? PubMed, Cochrane, ISI Web of Science, and Embase were searched for systematic …

Impact Of Aerobic Exercise On Cardiometabolic Health In Patients With Diabesity: A Systematic Review And Meta-Analysis Of Randomized Controlled Trials, Sameer Badri Al-Mhanna, Barry A. Franklin, John M. Jakicic, Emmanuel Stamatakis, Linda S. Pescatello, Deborah Riebe, Walter R. Thompson, James S. Skinner, Sheri R. Colberg, Jonathan K. Ehrman, George S. Metsios, Norsuhana Omar, Nouf H. Alkhamees, Bodor Bin Sheeha, Abdullah F. Alghannam, Alexios Batrakoulis

Human Movement Studies & Special Education Faculty Publications

Purpose

This systematic review and meta-analysis of randomized controlled trials (RCTs) aimed to evaluate the effects of aerobic exercise on cardiometabolic health-related indices in patients with type 2 diabetes and concurrent overweight/obesity (diabesity).

Methods

PubMed, Web of Science, Scopus, Science Direct, Cochrane Library, and Google Scholar databases were searched from inception to October 2024. The search strategy included the following keywords: diabetes, aerobic exercise, and endurance training. RCTs comparing aerobic exercise training ≥2 weeks in duration to standard treatment were considered eligible. Participants were adults with diabesity.

Results

A total of 1391 middle-aged/older adult patients (55 % females) were included …

Impact Of High-Intensity Interval Training On Cardiometabolic Health In Patients With Diabesity: A Systematic Review And Meta-Analysis Of Randomized Controlled Trials, Sameer Badri Al-Mhanna, Barry A. Franklin, Mark A. Tarnopolsky, John A. Hawley, John M. Jakicic, Emmanuel Stamatakis, Jonathan P. Little, Linda S. Pescatello, Deborah Riebe, Walter R. Thompson, James S. Skinner, Sheri R. Colberg, Jonathan K. Ehrman, George S. Metsios, Helen T. Douda, Norsuhana Omar, Abdullah F. Alghannam, Alexios Batrakoulis

Human Movement Studies & Special Education Faculty Publications

Aims This systematic review and meta-analysis aimed to evaluate the effects of high-intensity interval training (HIIT) on cardiometabolic health-related outcomes in patients with type 2 diabetes and obesity (diabesity).

Methods PubMed, Web of Science, Scopus, Science Direct, Cochrane Library, and Google Scholar databases were searched from inception up to November 2024. The search strategy encompassed the following keywords: diabetes, obesity, and HIIT. Randomized controlled trials (RCTs) recruiting adult participants with diabesity and comparing HIIT per se for ≥ 2 weeks in duration with non-exercise standard treatment were included.

Results A total of 18 RCTs qualified involving 504 patients (52/48 women/men …

Upregulation Of Delta Opioid Receptor By Meningeal Interleukin-10 Prevents Relapsing Pain, Kufreobong E Inyang, Jaewon Sim, Kimberly B Clark, Matan Geron, Karli Monahan, Christine Evans, Patrick O'Connell, Sophie Laumet, Bo Peng, Jiacheng Ma, Cobi J Heijnen, Robert Dantzer, Grégory Scherrer, Annemieke Kavelaars, Matthew Bernard, Yasser A Aldhamen, Joseph K Folger, Alexis Bavencoffe, Geoffroy Laumet

Faculty, Staff and Student Publications

Chronic pain often includes periods of transient amelioration and even remission that alternate with severe relapsing pain. While most research on chronic pain has focused on pain development and maintenance, there is a critical unmet need to better understand the mechanisms that underlie pain remission and relapse. We found that interleukin (IL)-10, a pain resolving cytokine, is produced by resident macrophages in the spinal meninges during remission from pain and signaled to IL-10 receptor-expressing sensory neurons. Using unbiased RNA-sequencing, we identified that IL-10 upregulated expression and antinociceptive activity of δ-opioid receptor (δOR) in the dorsal root ganglion. Genetic or pharmacological …

Sex Differences In Beneficial And Pathogenic Bacteria In People With Hiv (Pwh) With A History Of Heavy Alcohol Drinking, Aakarsha V Rao, Smita S Ghare, Vasuk Gautam, Kristi L Hoffman, Joseph Petrosino, Kaku So-Armah, Jeffrey H Samet, Gregory J Patts, Debbie M Cheng, Elena Blokhina, Evgeny M Krupitsky, Dmitry Lioznov, Edwin Zvartau, Craig J Mcclain, Hillary Tindle, Matthew S Freiberg, Shirish S Barve

Faculty, Staff and Students Publications

BACKGROUND: HIV-1 infection and hazardous levels of alcohol consumption have been independently linked to gut dysbiosis affecting beneficial butyrate-producing bacteria. However, sex-based differences in the composition and function of gut microbiome of People With HIV (PWH) with a history of heavy alcohol drinking remain undetermined, which is the focus of this study.

METHODS: Cross-sectional study examining structural and functional features of the gut microbiome in PWH between men and women with a history of hazardous alcohol drinking recruited at St. Petersburg, Russia. 16S rDNA sequencing information was used for metataxonomic, Phylogenetic Investigation of Communities by Reconstruction of Unobserved States (PICRUSt2) …

An Evaluation Of Genetic Predisposition To Congenital Anomalies And Pediatric Cancer Supports, Hyunjung Gu, Yao Yu, Saumya Dushyant Sisoudiya, Pamela Mishra, He Li, Jeremy M Schraw, Michael E Scheurer, Donna M Muzny, Danielle Mitchell, Olga Taylor, Shalini N Jhangiani, Shannon Dugan-Perez, Yifan Wu, Harsha Doddapaneni, Sravya Venkata Bhamidipati, Marie-Claude Gingras, Jennifer E Posey, Richard A Gibbs, Chad D Huff, Sharon E Plon, Philip J Lupo, Aniko Sabo

Faculty, Staff and Students Publications

Purpose: Although congenital anomalies are among the strongest risk factors for developing pediatric cancer, the genetic underpinnings remain unclear. Therefore, we evaluated germline susceptibility in children with congenital anomalies and cancer.

Methods: Through the Genetic Overlap Between Anomalies and Cancer in Kids Study, we recruited 47 participants with anomalies and cancer, along with their biological families. Genome sequencing was performed, focusing on single-nucleotide variants, indels, and structural variants. Pathogenic or likely pathogenic variants were identified by the American College of Medical Genetics and Genomics classification.

Results: We identified pathogenic or likely pathogenic variants in 23.4% (11 of 47) of participants. …

Evaluation Of Methotrexate Pharmacogenomic Variation To Predict Acute Neurotoxicity In Children With Acute Lymphoblastic Leukemia, Rachel D Harris, Olga A Taylor, M Monica Gramatges, Amy E Hughes, Mark Zobeck, Sandi Pruitt, M Brooke Bernhardt, Ashley Chavana, Van Huynh, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Rodrigo Erana, Juan Carlos Bernini, Ashley Choi, Yuu Ohno, Melissa A Richard, Alanna C Morrison, Han Chen, Bing Yu, Philip J Lupo, Karen Rabin, Michael E Scheurer, Austin L Brown

Faculty, Staff and Students Publications

BACKGROUND: Methotrexate is an important component of curative therapy in childhood acute lymphoblastic leukemia (ALL), but the role of genetic variation influencing methotrexate clearance and transport in toxicity susceptibility in children with ALL is not well established. Therefore, we evaluated the association between suspected methotrexate pharmacogenomic variants and methotrexate-related neurotoxicity.

METHODS: This study included children (aged 2-20 years) diagnosed with ALL (2005-2019) at six treatment centers in the southwest United States. Clinical information was abstracted from medical records. Suspected neurotoxic events occurring within 21 days of intravenous and/or intrathecal methotrexate delivered between the end of induction and start of maintenance …

Cadherin 1 Germline Mutation Co-Occurs With Medullary Thyroid Cancer And Choroid Plexus Papilloma: A Case Report And Review Of Literature, Vijay Nitturi, Sricharan Gopakumar, Hsiang-Chih Lu, Akash J Patel

Faculty, Staff and Students Publications

Background: We describe the case of a 23-year-old woman with a history of medullary thyroid cancer (MTC) who presented with a choroid plexus papilloma (CPP) and review the literature regarding the co-occurrence of these two pathologies.

Case description: A 23-year-old woman with a history of MTC treated with thyroidectomy 3 months prior was referred to neurosurgery with an incidental fourth ventricular mass found on prior imaging of her neck. She presented to the clinic with intermittent headaches and underwent MRI which demonstrated a hyperintense, heterogeneously enhancing lobular mass at the obex of the fourth ventricle. She underwent suboccipital craniotomy and …

Defining Dysphoric Milk Ejection Reflex: Using Premenstrual Dysphoric Disorder As A Framework For Proposing Preliminary Diagnostic Criteria, Megan Howard, Teni Davoudian, Nicole H Cirino

Faculty, Staff and Students Publications

Dysphoric Milk Ejection Reflex (D-MER) is a distinct neurobiological condition characterized by negative alterations in mental state in response to milk letdown during lactation. Symptoms vary by patient and can include feelings of sadness, anxiety or agitation. Importantly, the symptoms are brief, typically lasting no more than 5 minutes. Prevalence has been found between 6 and 27% of lactating women, but studies show heterogeneity, due in part to inconsistent definition. D-MER is not currently classified in the Diagnostic and Statistical Manual of Mental Disorders (DSM) or the International Classification of Diseases (ICD), which presents a challenge for researchers of the …