Medicine and Health Sciences Commons^™

Clinical, Genetic, And Cognitive Correlates Of Seizure Occurrences In Phelan-Mcdermid Syndrome, Tess Levy, Jacob Gluckman, Paige M Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J Lloyd Holder, M Pilar Trelles, Kristina Johnson, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava

Duncan NRI Faculty and Staff Publications

Background: Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome.

Methods: We report on results from 98 individuals enrolled in a prospective, longitudinal study. We detailed seizure frequency, type, and age of onset, …

Mustang: Multi-Sample Spatial Transcriptomics Data Analysis With Cross-Sample Transcriptional Similarity Guidance, Seyednami Niyakan, Jianting Sheng, Yuliang Cao, Xiang Zhang, Zhan Xu, Ling Wu, Stephen T C Wong, Xiaoning Qian

Faculty, Staff and Students Publications

Spatially resolved transcriptomics has revolutionized genome-scale transcriptomic profiling by providing high-resolution characterization of transcriptional patterns. Here, we present our spatial transcriptomics analysis framework, MUSTANG (MUlti-sample Spatial Transcriptomics data ANalysis with cross-sample transcriptional similarity Guidance), which is capable of performing multi-sample spatial transcriptomics spot cellular deconvolution by allowing both cross-sample expression-based similarity information sharing as well as spatial correlation in gene expression patterns within samples. Experiments on a semi-synthetic spatial transcriptomics dataset and three real-world spatial transcriptomics datasets demonstrate the effectiveness of MUSTANG in revealing biological insights inherent in the cellular characterization of tissue samples under study.

Phenome-Wide Identification Of Therapeutic Genetic Targets, Leveraging Knowledge Graphs, Graph Neural Networks, And Uk Biobank Data, Lawrence Middleton, Ioannis Melas, Chirag Vasavda, Arwa Raies, Benedek Rozemberczki, Ryan S Dhindsa, Justin S Dhindsa, Blake Weido, Quanli Wang, Andrew R Harper, Gavin Edwards, Slavé Petrovski, Dimitrios Vitsios

Faculty, Staff and Students Publications

The ongoing expansion of human genomic datasets propels therapeutic target identification; however, extracting gene-disease associations from gene annotations remains challenging. Here, we introduce Mantis-ML 2.0, a framework integrating AstraZeneca's Biological Insights Knowledge Graph and numerous tabular datasets, to assess gene-disease probabilities throughout the phenome. We use graph neural networks, capturing the graph's holistic structure, and train them on hundreds of balanced datasets via a robust semi-supervised learning framework to provide gene-disease probabilities across the human exome. Mantis-ML 2.0 incorporates natural language processing to automate disease-relevant feature selection for thousands of diseases. The enhanced models demonstrate a 6.9% average classification power …

Design And Validation Of Eco-Friendly Chemometric-Assisted Spectrophotometric Methods For The Simultaneous Determination Of Chlorzoxazone, Paracetamol, And Aceclofenac In The Presence Of Their Main Impurities, Ayoub N. Mozayad, Marwa A. Fouad, Ehab F. Elkady

Bulletin of Faculty of Pharmacy Cairo University

Objective: The goal of this work is to develop and validate eco-friendly spectrophotometric methods for the simultaneous determination of chlorzoxazone (CHZ), paracetamol (PAR), and aceclofenac (ACF) in the presence of their major impurities, specifically 2-amino-4-chlorophenol (ACP), 4-aminophenol (4-AP), and diclofenac (DCF), in commercially available tablet dosage forms using chemometric techniques. Method: Six chemometric models, namely classical least squares (CLS), partial least squares (PLS) regression, and principal component regression (PCR), in addition to feed-forward back-propagation artificial neural networks (FFBP-ANN), cascade-forward back-propagation artificial neural networks (CFBP-ANN), and radial basis function artificial neural networks (RBF-ANN), were employed to analyze the synthetic mixtures, which …

Exploring The Potentials Of Pulmonary Malignancy As A Contributing Factor To Pulmonary Edema, Mykala C. Jackson, Kenyot’A C. Russell, Evelyn O. Orusa, Joshua Owolabi

Research Day

The goal of this study is to investigate the cause of pulmonary edema as a result of pulmonary malignancy. The first phase of investigation occurred with a dissection of gross anatomy. When opening the thoracic cavity, the left lung was grazed and copious amounts of fluid seeped from the lung. Upon the initial observation of gross anatomy, both lungs appeared to be enlarged and exhibited an abnormal color. During the dissection, the left lung was noticeably larger than the right lung which could have compressed the heart. Upon palpation of the right lung, a large mass could be felt in …

Rare Presentation Of Aberrant Renal Vessels, A Case Report, Diamond Alexander, Ralph W. Brown, Hannah K. Da Cruz, Justin T. Nguyen, Stephanie Suarez, Joshua Owolabi

Research Day

Introduction

Aberrant renal arteries can be due to abnormal ascension or rotation of the fetal kidney. Aberrant arteries from the inferior pole are only seen in 3% of dissected cadavers, providing an opportunity to understand the rare variation and its effects on physiological and histological findings1. These anomalies can be asymptomatic or lead to impaired urine flow through the ureter, leading to hydronephrosis.

Methods

A 76-year-old male donor cadaver was dissected in the PCOM South Georgia anatomy lab in accordance with the first year curriculum for abdominal and kidney dissection. Observations and measurements were noted.

Results

The left kidney presented …

Successful Treatment Of Primary Melanoma Of The Ascending Colon: A Case Report And Literature Review, Maryam Ali, Mailyn Cruz, Wenhui Zhu

Research Day

Introduction: Malignant melanoma typically originates from the skin. Gastrointestinal melanomas are rare, representing 1-3% of neoplasms of the gastrointestinal tract. Cases of primary melanoma originating de-novo from the gastrointestinal (GI) tract are exceptionally rare. Of those cases originating from the GI tract, only 37 cases of primary colonic melanoma have been reported to date.

Case Presentation: Herein, we present the case of a 66-year-old Caucasian male presenting with Stage IV metastatic primary malignant melanoma of the ascending colon found on routine surveillance colonoscopy. The patient’s past medical history was significant for hypertension, dyslipidemia, and pulmonary embolism. Upon initial presentation, the …

Diagnostic Utility Of Cerebrospinal Fluid Biomarkers In Patients With Rapidly Progressive Dementia, Lindsey A. Kuchenbecker, Philip W. Tipton, Yuka Martens, Matthew R. Brier, Nihal Satyadev, Richard S. Dunham, Evelyn B. Lazar, Maxwell V. Dacquel, Rachel L. Henson, Guojun Bu, Michael D. Geschwind, John C. Morris, Suzanne E. Schindler, Elizabeth Herries, Neill R. Graff-Radford, Gregory S. Day

Research Day

Objective:This study was undertaken to apply established and emerging cerebrospinal fluid (CSF) biomarkers to improve diagnostic accuracy in patients with rapidly progressive dementia (RPD). Overlap in clinical presentation and results of diagnostic tests confounds etiologic diagnosis in patients with RPD. Objective measures are needed to improve diagnostic accuracy and to recognize patients with potentially treatment-responsive causes of RPD.

Methods: Biomarkers of Alzheimer disease neuropathology (amyloid-β42/40 ratio, phosphorylated tau [p-tau181,p-tau231]), neuroaxonal/neuronal injury (neurofilament light chain [NfL], visinin-like protein-1 [VILIP-1], total tau), neuro-inflammation (chitinase-3-like protein [YKL-40], soluble triggering receptor expressed on myeloid cells 2 [sTREM2],glialfibrillary acidic protein [GFAP], monocyte chemoattractant protein-1 [MCP-1]), …

Association Between Psychiatric Diagnosis And Academic Major In College Students, Maryam Ali, Ambika Menon, Amani Carson, Larry Tupler

Research Day

Introduction: Prior literature has highlighted the high prevalence of psychiatric diagnoses amongst college students. We propose that developmental influences that shape the emergence of psychiatric disorders amongst individuals are reflected in early intellectual pursuits. Furthermore, we propose that collegiate institutional stressors relating to these pursuits can further the declaration of a disorder in students with a psychiatric diathesis. Methods: We acquired data anonymously from 1,133 colleges via a Web-based survey of 17,425 students who were ≤ 22 years old. We report the association between psychiatric disorder and choice of academic major in the first collegiate year to illuminate early developmental …

Eating Disorders In Hispanic Females Living In The Us: A Review Of Literature, Yesenia P. Stephens, Natalia Miles

Research Day

INTRODUCTION: According to the United States Census, Hispanics make up 19.1% of the total population, making it the nation’s largest racial or ethnic minority. Of interest, nearly 22% of Hispanic adults report having a mental illness, yet only 36% receive mental health services compared to non-Hispanic Whites (52%).2

OBJECTIVES: There is limited research on diagnosing eating disorders in Hispanic females living in the US. To understand this disparity, the aims of this study are to 1) gain understanding of what psychological constructs are unique to the experience of Hispanic females living in the US and 2) determine the risk factors …

Actions Speak Louder Than Words: The Assertive Community Treatment Program In Rural South Georgia, Maryam Ali, Anthony Cimmino, Janai Groves, Brandon Krout

Research Day

Introduction: The Assertive Community Treatment (ACT) program offers patient-centered mental-health treatment to those in need with mental illness, addictions, and/or developmental disabilities. The ACT program is unique in providing mental health services in non-restrictive milieus that facilitate patient independence within their natural environment. These services include a variety of multi-disciplinary interventions, such as behavioral health assessments, behavioral health crisis units, family/individual/group counseling, crisis intervention, and various community support services. Our ACT team in rural South Georgia specifically covers Colquitt, Decatur, Grady, Mitchell, Thomas, and Seminole counties.

Case Presentation: Herein, we present the case of a 51-year old African American male …

Impact Of Lectures Given Via Tophat Active Learning Platform On Medical Student Performance On Assessments, Junius A. Rosario, Brandy Sreenilayam, Nikita Mirajkar

Research Day

Introduction: TopHat (Tophatmonacle Corporation, Toronto, Ontario, Canada) is an active learning platform that allows instructors to present lectures and engage with students in real time by testing their knowledge through instructor-written questions. Some students participate in these practice questions while others do not. All students complete questions on formal assessment.

Objective: To assess whether student engagement in TopHat-delivered Biochemistry, Microbiology, and HDT lectures and their associated practice questions has an impact on formal assessment performance.

Methods: Statistical analysis of student performance and engagement was conducted using the TopHat-generated “Learning Insights” spreadsheet. Appropriate statistical methods will be employed to analyze data …

Healthcare Disparities Are Associated With Eligibility And Enrollment In Clinical Trials In Louisiana, Conner Hartupee, Denise Danos, Eileen Mederos, Augusto Ochoa, Valentine Nfonsam, Omeed Moaven

Surgery Research Symposium

No abstract provided.

Taruma Plus Burn: Which Comes First?, Anastasiya Ivanko, Denise Danos, Jonathan E. Schoen, Hebert A. Phelan, Alison A. Smith, Jeffrey E. Carter

Surgery Research Symposium

No abstract provided.

The Safety Of Reboa Use In Obese And Non-Obese Trauma Patients, Iris Hunt, Omar Azmeh, Alan B. Marr, Patrick Greiffenstien, Lance Stuke, Alison Smith

Surgery Research Symposium

No abstract provided.

Disparities In Access To Care In The Multimodality Treatment Of Primary Nonmetastatic Liver Cancers And Their Impact On Patient Outcomes In State Of Louisiana, Sanchit Sachdeva, Mckenzie Hargis, Andrew G. Chapple, Hannah R. Malinosky, Mohammad El Afishat, John Lyons, James C. Watson, Mary Maluccio, Valentine N. Nfonsam, Omeed Moaven

Surgery Research Symposium

No abstract provided.

Abdominal Pseudoaneurysms In Patients With High-Grade Traumatic Injuries, Alexis Scheuermann, Meredyth Berard, Shivani Jain, Harrison Travis, Marquinn Duke, Jennifer Rhodes, Hector Ferral, Alexandra Fairchild, Bahri Ustunsoz, Alison Smith

Surgery Research Symposium

No abstract provided.

Surgeons, Who’S Watching The Kids?, Jeanette Zavala, Ikenna Ifearulundu, Chrissy Guidry, Jeffanne E. Millien, John P. Hunt, Alison Smith

Surgery Research Symposium

No abstract provided.

Disparities In Surgical Care Outcomes In Patients With Nonmetastatic Gastric Cancer In Louisiana, K. Maupin, C. Hartupee, D. Danos, O. Moaven

Surgery Research Symposium

No abstract provided.

Supercharged And Delayed Thoracodorsal And Dorsal Intercostal Artery Perforator Flaps For Autologous Breast Reconstruction: A Case Report, Adeem Nachabe, Mohammed S. Rais, Mark A. Maier, Hugo St. Hilaire, Robert J. Allen

Surgery Research Symposium

No abstract provided.

The Impact Of The 2014 Medicaid Expansion On Trends In Stage Of Colon Cancer At Presentation, Katherine Pavleszek, Denise Danos, Linzi Paul, Mohammed Rais, Elyse Bevier-Rawls, Gabrielle Prezkop, Lindsey Gade, Valentine Nfonsam

Surgery Research Symposium

No abstract provided.

Identifying Disparities In Surgical Management And Outcomes Of Patients With Primary Liver Cancer In Louisiana, Mckenzie Hargis, Denise Danos, Hannah R. Malinosky, Mohammad Al Efishat, John Lyons, James C. Watson, Mary Maluccio, Omeed Moaven

Surgery Research Symposium

No abstract provided.

The Inflammatory Response Of Geriatric Burn Patients, Sophia Trinh, Jenna Dennis, Cameron Fontenot, Jeffery Hobden, Jonathan Schoen, Herbert Phelan, Jeffrey Carter, Alison Smith

Surgery Research Symposium

No abstract provided.

Penetrating Traumatic Cardiac Arrest: Can Prehospital Blood Administration Result In Signs Of Life Upon Arrival To Trauma Center?, Connor Latiolais, Hall M. Braud, Elizabeth Lacy, Michael Hirchak, Blake Platt, Juan Duchesne, Lance Stuke, Emily Nichols, David Rayburn, Megan Marino, Tom Dransfield, Alison A. Smith

Surgery Research Symposium

No abstract provided.

Parkes Weber Syndrome Caused By A Somatic Map2k1 Mutation, N. Strat, Rebecca Brantley, R. Zambrano, M. Masoumy, I. Hill, C. Sheahan, M. Cable, J. D'Souza, D. Leblanc

Surgery Research Symposium

No abstract provided.

Pop! Goes The Gallbladder? A Successful Outcome Of Hemorrhagic Cholecystitis: A Case Report, Mohammed S. Rais, Jose A. Cruz Alaya, Christa Zino, Clifton Mcginness, John P. Hunt, Alan B. Marr, Patrick Greiffenstein, Alison A. Smith

Surgery Research Symposium

No abstract provided.

Prehospital Needle Decompression Of Suspected Tension Pneumothorax: Outcomes And Consequences, Harrison Travis, Gilbert Andry, Colin Rutner, Michael Maristany, Elizabeth Lacy, Kaleb Derouen, Alison Smith, Patrick Greiffenstein

Surgery Research Symposium

No abstract provided.

Evaluating The Efficacy Of Epinephrine In Prehospital Traumatic Cardiac Arrest, Michael Hirchak, Elizabeth Lacy, Connor Latiolais, Hall Braud, Danielle Tatum, John P. Hunt, Lance Stuke, Alan Marr, Patrick Greiffenstein, Jonathan Schoen, Juan Duchesne, Alison A. Smith

Surgery Research Symposium

No abstract provided.

Does Prehospital Crystalloid Administration In Penetrating Brain Injury Lead To Worse Outcomes?, Frederick Clark, Paige Deville, Ashlin Hinojosa, Alissa Jeanfreau, Alaina Guilbeau, Prianca Shrestha, Evan Wolff, John P. Hunt, Lance Stuke, Merritt Brown, Alison Smith, Berje Shammassian

Surgery Research Symposium

No abstract provided.

Profiling Bone Marrow Mesenchymal Stem Cell Secretome From Level 1 Trauma Patients: A Pilot Study, Jenna Dennis, O Warren, J. Schoen, J. Carter, H Phelan, P Greiffenstein, L. Stuke, L. Marrero, V. Dasa, A. A. Smith

Surgery Research Symposium

No abstract provided.