Digital Commons Network^™

Precision Phenotyping For Curating Research Cohorts Of Patients With Unexplained Post-Acute Sequelae Of Covid-19, Alaleh Azhir, Jonas Hügel, Jiazi Tian, Jingya Cheng, Ingrid V Bassett, Douglas S Bell, Elmer V Bernstam, Maha R Farhat, Darren W Henderson, Emily S Lau, Michele Morris, Yevgeniy R Semenov, Virginia A Triant, Shyam Visweswaran, Zachary H Strasser, Jeffrey G Klann, Shawn N Murphy, Hossein Estiri

Faculty, Staff and Student Publications

BACKGROUND: Scalable identification of patients with post-acute sequelae of COVID-19 (PASC) is challenging due to a lack of reproducible precision phenotyping algorithms, which has led to suboptimal accuracy, demographic biases, and underestimation of the PASC.

METHODS: In a retrospective case-control study, we developed a precision phenotyping algorithm for identifying cohorts of patients with PASC. We used longitudinal electronic health records data from over 295,000 patients from 14 hospitals and 20 community health centers in Massachusetts. The algorithm employs an attention mechanism to simultaneously exclude sequelae that prior conditions can explain and include infection-associated chronic conditions. We performed independent chart reviews …

Body Composition And Its Outcomes And Management In Multiple Sclerosis: Narrative Review, Ariel Kidwell-Chandler, Justin Jackson, Brenda Jeng, Stephanie L Silveira, Lara A Pilutti, Paul R Hibbing, Robert W Motl

Faculty, Staff and Student Publications

Background: There is emerging interest in obesity and its prevalence, outcomes, and management in people with multiple sclerosis (MS). Body mass index (BMI) is the traditional marker of obesity in MS, whereas body composition, inclusive of specific body tissue compartments (e.g., fat, bone, and muscle), is often overlooked despite its relevance.

Objective: This narrative review (a) underscored the use and utility of dual-energy X-ray absorptiometry (DEXA) as an accurate and reliable measure of body composition; (b) thematically analyzed and synthesized the current evidence regarding body composition (using DEXA); and (c) determined gaps to be addressed in future research. Methods: …

Strategies To Improve Antibody-Mediated Protection Against Herpes Simplex Virus Infections, Matthew D. Slein

Dartmouth College Ph.D Dissertations

No efficacious vaccine exists for herpes simplex virus and the global burden of disease remains high. Antibodies can serve as potent therapeutics to protect high risk populations such as neonates. Although rare, neonatal HSV (nHSV) infections can result in significant mortality and lifelong neurological morbidity even with antiviral therapy. While HSV-specific maternally derived antibodies significantly reduce the risk of neonatal disease in humans, the mechanisms by which they mediate protection have yet to be described. Using a mouse model of neonatal HSV (nHSV) infections we aimed to determine the mechanisms of antibody-mediated protection using monoclonal antibodies (mAbs) targeting two of …

Facial Follicular Porokeratosis Simulating Discoid Lupus Erythematosus In An African American Woman, Pritika Singh, Layna Mager, Jeffrey Y. Liu, Jason B. Lee, Sylvia Hsu

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

Preoperative Brain Volume Loss Is Associated With Postoperative Delirium In Advanced Heart Failure Patients Supported By Left Ventricular Assist Device, Iván Murrieta-Álvarez, Jacob P Scioscia, José M Benítez-Salazar, Jason Uwaeze, Zicheng Xu, Guangyao Zheng, Shiyi Li, Vladimir Braverman, Carl P Walther, Alexis E Shafii, Camila Hochman-Mendez, Todd K Rosengart, Kenneth K Liao, Nandan K Mondal

Faculty, Staff and Students Publications

Delirium is a common neurological complication in patients with advanced heart failure (ADHF) following left ventricular assist device (LVAD) implantation, significantly impacting recovery. This study aimed to analyze non-contrast computed tomography (CT) scans of the brain in ADHF patients undergoing LVAD implantation to determine the association between pre-existing brain atrophy and postoperative delirium. A study involving 166 ADHF patients was conducted from March 2020 to July 2023. Non-contrast CT scans were analyzed using advanced quantitative neuroimaging techniques before implantation. The primary marker assessed was the lateral ventricle fraction (LVF), with secondary markers including cortical gray matter fraction (cGMF), white matter …

Protocol And Design Of The Repose Study: A Double-Blinded, Randomised, Placebo-Controlled Trial To Evaluate The Efficacy Of Suvorexant To Improve Postoperative Sleep And Reduce Delirium Severity In Older Patients Undergoing Non-Cardiac Surgery, John Michael Fallon, Mona Hashemaghaie, Christy E. Peterson, Dieplinh Tran, Sophie R. Wu, Jonathan M. Valdes, Nicole M. Pedicini, Melissa E. Adams, Marjorie Soltis, Wissam Mansour, Mary Cooter Wright, Karthik Raghunathan, Miriam M. Treggiari, Cina Sasannejad, Michael J. Devinney

School of Medicine Faculty Publications

INTRODUCTION: Postoperative delirium occurs in up to 40% of older surgical patients and has been associated with prolonged hospital stays, long-term cognitive impairment and increased 1-year postoperative mortality. Postoperative sleep disturbances may increase the risk of delirium, but studies investigating pharmacotherapies to improve postoperative sleep to prevent delirium remain limited. Suvorexant is a selective antagonist of orexin 1 and 2 receptors and is approved for insomnia pharmacotherapy by the Food and Drug Administration. It has the potential to improve postoperative sleep and reduce postoperative delirium rates, but randomised controlled trials (RCTs) are needed to determine the efficacy of postoperative suvorexant …

Respiratory Muscle Training Reduces Painful Swallowing And Opioid Use During Radiation Therapy For Head And Neck Cancer: A Matched Pair Analysis, Andrew D. Ray, Chi-Chen Hong, Nicolas F. Schlecht, Han Yu, Kristopher Attwood, Kent L. Nastiuk, Bryan A. Spinelli, Ann Marie Flores, Hillary Jacobson, Julia Fulfaro, M. Jeffrey Mador, Austin J. Iovoli, Mark K. Farrugia, Anurag K. Singh

Department of Physical Therapy Faculty Papers

BACKGROUND: Patients with head and neck cancer (HNC) receiving radiation therapy (RT) are at increased risk for symptoms of oral mucositis (OM), opioid use, and declines in physical function, outcomes that contribute to increased morbidity and mortality. The study objective was to determine the effects of respiratory muscle training (RMT) on OM and opioid use, as well as functional performance in patients with HNC receiving RT with or without concurrent chemotherapy (CCRT).

METHODS: Patients aged ≥ 18 years of age with stage I to IV HNC being treated with RT or CCRT receiving a home-based respiratory muscle training (RMT) (n …

The Role Of Electrophysiologic Study In Device Selection For Leadless Atrial Pacing, Joshua R Hirsch, Jordan M Gales, Irakli Giorgberidze, Hamid Afshar

The Texas Heart Institute Journal

The AVEIR DR (Abbott Medical) was the first dual-chamber leadless pacing system approved by the US Food and Drug Administration. Many patients with sinus node dysfunction have physiologically normal atrioventricular conduction, so an atrial-only pacing system may be appropriate for them. Three patients with symptomatic sinus node dysfunction underwent device implantation with electrophysiologic study, including incremental atrial pacing until loss of 1:1 atrioventricular conduction (atrioventricular Wenckebach cycle length) and His-ventricular interval measurement. If the atrioventricular Wenckebach cycle length was no more than 400 milliseconds and the His-ventricular interval measurement was no more than 55 milliseconds, single-chamber atrial implantation was deemed …

Successful Limb Salvage In A Severe Diabetic Foot Infection: A Case Study Of Aggressive Surgical Intervention And Grafting Technique, Stephanie N. Campbell, Amanda Killeen, Michael Sobolevsky

Research Symposium

Background: Severe necrotizing diabetic foot infections are known to have high morbidity, high amputation risk, and high complication rates. Efforts at preserving the limb require significant surgical efforts and lengthy wound care. This process is more complicated in patients with significant housing instability.

Case Presentation: A 53-year-old male with uncontrolled diabetes (A1c 7.9%), housing insecurity, food insecurity presented with severe necrotizing diabetic foot infection with ascending cellulitis, infectious hemorrhagic bullae, multi-compartment abscesses of the foot and anterior leg. It is known that patients with diabetes are at increased risk of both amputation and surgical interventions than patients without diabetes. This …

Frontotemporal Dementia And Amyotrophic Lateral Sclerosis: A Case Report And Clinical Insights, Audrey Grigore, Lynne J. Goebel

Internal Medicine

Primary care providers are often the first contact for patients with neurodegenerative illnesses, however, they may not be aware of the relationship of certain diseases that may have an impact on their patients' longevity. This case report reminds clinicians of the association between frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Physicians should be aware of the association, because FTD commonly occurs first and may prepare clinicians to be alert to the signs of ALS in these patients, leading to earlier detection of ALS and the prescription of disease-modifying medication that may extend the lifespan of people with these diseases. …

A Case Of Turmeric-Induced Hepatotoxicity With Hyperferritinemia, Nina R. Spitofsky, Albert A. Huang, Aria Jalalian, Stefanie Gallagher, Scott Fink

Department of Medicine Faculty Papers

Introduction: We present the first published case of turmeric-associated drug-induced liver injury (DILI) accompanied by significant ferritin elevation. Case Presentation: Our patient, a 59-year-old female with DILI caused by long-term ingestion of oral turmeric supplements, presented with painless jaundice on an annual exam. The patient’s liver function tests exhibited a hepatocellular pattern and hyperferritinemia (>2,000 ng/dL). Additional testing was negative except for heterozygosity for the H63D allele associated with hemochromatosis. A liver biopsy indicated acute hepatitis without fibrosis or stainable iron. Conclusion: Upon discontinuation of the supplement, liver enzymes normalized within a month. This case highlights the potential for …

Spontaneous Distal Middle Cerebral Artery Aneurysm In A Young Male With Full Mutation Of The Fragile X Syndrome With A High-Functioning Phenotype: Illustrative Case, Eleni Papadopoulos, Anna Abrimian, Hekmat Zarzour, Randi J Hagerman, Richard F Schmidt

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Fragile X syndrome (FXS) is a genetic disorder that typically presents with neurodevelopmental abnormalities. Patients with FXS can present with signs and symptoms of connective tissue disorder (CTD) and occasionally with vascular disease. However, cerebrovascular disease is not well documented in these patients, and it is unknown whether there is a direct link between abnormal levels of fragile X protein (FMRP) and its mRNA.

OBSERVATIONS: Here, the authors present a rare case of an adult male with full mutation FXS of a high-functioning phenotype who presented with syncope, and on further evaluation, a fusiform dissecting aneurysm of the distal …

Meta-Analysis On Sex Differences In Mortality And Neurodevelopment In Congenital Heart Defects, Alyssa K Crain, Zhia N Lim, Chloe J Sarfatis, Magela Arias, Travis Holder, Alvaro G Moreira, Antonio F Corno, Tina O Findley

Faculty, Staff and Student Publications

Given the increasing survival rates among congenital heart disease (CHD) patients and the growing emphasis on their quality of life, there is a need to comprehensively assess the impact of surgical interventions on neurodevelopmental outcomes. With increasing awareness in sex-related disparities in CHD, there is a need to explore potential differences in surgical mortality and neurodevelopmental outcomes between male and female patients. In this systematic review, we adhered to PRISMA guidelines and PROSPERO registration (#CRD42021225610). Articles published from 2015 to 2021 were searched using MeSH descriptors in three major databases (MEDLINE Ovid, Elsevier Embase, and Cochrane Library). Study selection criteria …

Impact Of Chromatin On Hiv-1 Latency: A Multi-Dimensional Perspective, Joanna E. Jones, Chelsea E. Gunderson, Brian Wigdahl, Michael R. Nonnemacher

Kimmel Cancer Center Papers, Presentations, and Grand Rounds

Human immunodeficiency virus type 1 (HIV-1) is a retrovirus that infects multiple immune cell types and integrates into host cell DNA termed provirus. Under antiretroviral control, provirus in cells is able to evade targeting by both host immune surveillance and antiretroviral drug regimens. Additionally, the provirus remains integrated for the life of the cell, and clonal expansion establishes a persistent reservoir. As host cells become quiescent following the acute stage of infection, the provirus also enters a latent state characterized by low levels of transcription and virion production. Proviral latency may last years or even decades, but stimuli such as …

Condensed Low-Dose Total Skin Electron Beam Therapy For Mycosis Fungoides: An Institutional Retrospective Review And Subgroup Analysis Of Patients With Large Cell Transformation, Louis Cappelli, Megan Cappelli, Nilanjan Haldar, Tiara Paul, Jenna Mandel, Tingting Zhan, Neda Nikbakht, Wenyin Shi

Department of Dermatology and Cutaneous Biology Faculty Papers

Low-dose total skin electron beam therapy (TSEBT) is an effective treatment option for mycosis fungoides (MF) with proven palliative effects and reduced toxicity. Presented is an institutional analysis of survival/response rate and quality of life for MF patients with subgroup analysis of those possessing pathologic large cell transformation (LCT). This is a single institutional retrospective review of patients with mycosis fungicides treated from 2014 to 2023 with low-dose TSEBT. All patients received 12 Gy in 6 fractions every other day with the modified Stanford technique, with boosts to shadowed sites between treatments, completed in 2 weeks. Outcomes evaluated included clinical …

Unraveling Genetic Links Between Diabetes And Heart Failure-A Machine Learning Approach, Sunakhi Sahoo, Marzieh Ayati

Research Symposium

Background: Diabetic heart failure (DHF) is defined as a chronic and progressive disease which is associated with both diabetes and heart failure (HF). Even though there have been many developments in the knowledge of these diseases, there is still much to learn about the genetic crossovers between the two. In this study, we identified genes that are associated with diabetic heart failure and heart failure by using gene expression data from patients with DHF, HF, and a control group of patients who died of natural causes. We sought to identify genes that had altered expression levels which could possibly play …

Interlink Between Genomics By Gtex Portal And Gut Microbiome In Autism Spectrum Disorder, Sriya Gullapalli, Nina Mourao, Tori Sayers, Lois Baldado, Megan W. Szobody, Arjun Bellamkonda, Blake C. Martin, Kory D. Punch, Kevin Garcia Valdez, Anesu Karen Murambadoro, Miguel Quintanilla, Bethany Woolman, Kelsey Baker, Bharathi S. Gadad

Research Symposium

Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by repetitive behaviors, social deficits, and highly restrictive sensory patterns which results from aberrant early-life central nervous system functioning. While ASD has been traditionally associated with molecular genetic alterations, emerging evidence underscores the role of environmental elements. In fact, pathologic genetic variations of key regulator genes coupled with environmental factors, such as: advanced maternal age, poor maternal health during pregnancy, gestational diabetes mellitus, and altered gut microbiome and/or secondary environmental challenges to the offspring in early childhood have all been attributed to increased risk of developing ASD. In efforts …

Proteomic Profiling Of Stress-Associated Proteins In Hepatocellular Carcinoma And The Hepatoprotective Effects Of Silymarin, Mohammad Shabir Hussain, Yamile A. Anaya, Amairani Sanchez, Sophia Leslie, Manish Kumar Tripathi

Research Symposium

Background: The liver is the principal organ responsible for the detoxification of exogenous and endogenous toxins, xenobiotics, and viruses and bacteria, making it susceptible to damage by various chemicals and metabolites that enter the body. In clinical relevance, Hepatocellular carcinoma (HCC) is a major global health concern, being the sixth most common cancer worldwide and third leading cause of cancer-related death. HCC accounts for 85–90% of liver cancers globally. Texas is projected to have the second-highest liver cancer-related deaths, with Hispanic populations experiencing the highest mortality rates. The liver, a vital metabolic organ, is particularly vulnerable to stress-induced damage. According …

Maternal Health And Congenital Heart Defects: Investigating Ventricular Septal Defects In South Texas Region 11, Miguel A. Lopez, Sophia Moon, Jonathan M. Hebert, Padmanabhan Rengasamy

Research Symposium

Congenital heart defects are a known risk factor for early childhood mortality and can be traced to poor maternal health, a crisis plaguing the South Texas region. This perspective research project utilizes previously computed data on the prevalence of ventricular septal defects (VSD) in South Texas region 11 combined with a comprehensive literature review to investigate the correlation between both maternal obesity and diabetes with VSD. Current literature supports a significant association between maternal diabetes and VSD, with one Russian study reporting an eight to nine fold increased risk in VSD in children born to diabetic mothers. By contrast, the …

Subcutaneous Insulin Aspart Every 4 Hours In The Treatment Of Covid-19 Patients With Mild-To-Moderate Diabetic Ketoacidosis: A Case Series, Dararat Chiewchalermsri, Chayanin Wanittansirichok, Chutintorn Sriphrapradang

Journal of Community Hospital Internal Medicine Perspectives

This case series evaluates the efficacy and safety of subcutaneous (SC) insulin Aspart administered every four hours for managing mild-to-moderate diabetic ketoacidosis (DKA) in COVID-19 patients, addressing a current evidence gap. We conducted a retrospective review of confirmed COVID-19 patients over 15 years old who developed mild to moderate DKA between July 2020 and October 2021. Insulin Aspart was administered at 0.4 units/kg SC every 4 hours, reduced to 0.2 units/kg when blood glucose (BG) decreased to/dL, and SC basal insulin was initiated at 0.15-0.2 units/kg at DKA diagnosis. A total of seven patients, with a mean age of 67.4±13.2 …

Risk Factors, Pathogenesis, Prevention And Clinical Features Of Cardiovascular Implantable Electronic Device (Cied) Infections, Mustafa Shehzad, Humna Younis, Rohail Azhar, Dawood Shehzad, Noor Zara Usman

Journal of Community Hospital Internal Medicine Perspectives

Cardiac implantable electronic devices (CIEDs) are essential therapeutic tools for managing various cardiac conditions but are also associated with the risk of infections, leading to significant morbidity, mortality, and healthcare costs. Risk factors include patient comorbidities, procedural aspects, and device characteristics. Prompt intervention and early recognition of CIED infections, including pocket and systemic infections, are essential for preventing complications. Advanced imaging modalities aid in accurate diagnosis, while a multidisciplinary approach involving infectious disease specialists and cardiologists guides treatment strategies. Tailored antibiotic therapy, along with device removal and lead extraction, is crucial in managing CIED infections. This article emphasizes risk factors, …

High Rate Of Complications With Exchange Nailing For Femoral Nonunions, Benjamin Averkamp, Ziqing Yu, Julia C. Mastracci, Matthew J. Braswell, Andrew T. Chen, Luke A. Lopas, Ishani Sharma, Hassan Farooq, Hassan Mir, Jessica Rivera, Rachel B. Seymour, Joseph R. Hsu, Evidence-Based Musculoskeletal Injury & Trauma Collaborative, Robert D. Zura, Marc Schatz, Et Al

School of Medicine Faculty Publications

Objectives: To evaluate rates of nonunion repair, osseous healing, and outcomes in femoral nonunions with contemporary healing. Design: Retrospective review. Setting: Five academic level 1 trauma centers. Patients/Participants: This study includes adult patients (age older than 18) seen at one of the participating institutions between 2012 and 2019 who sustained a femur fracture (OTA/AO 31, 32, 33) initially treated with intramedullary fixation that developed nonunion and were treated with exchange nailing for the index nonunion surgery. Seventy-nine patients with femoral nonunion met inclusion criteria. Intervention: Exchange nailing for treatment of femoral nonunion. Main Outcome Measurements: The primary outcome measure was …

Future Applications Of Fluorescence Lifetime Imaging Ophthalmoscopy In Neuro-Ophthalmology, Neurology, And Neurodegenerative Conditions, Daniel M. Markowitz, Elizabeth Affel, György Hajnóczky, Robert C. Sergott

Farber Institute for Neuroscience Faculty Papers

Fluorescence lifetime imaging ophthalmoscopy (FLIO) has emerged as an innovative advancement in retinal imaging, with the potential to provide in vivo non-invasive insights into the mitochondrial metabolism of the retina. Traditional retinal imaging, such as optical coherence tomography (OCT) and fundus autofluorescence (FAF) intensity imaging, focus solely on structural changes to the retina. In contrast, FLIO provides data that may reflect retinal fluorophore activity, some of which may indicate mitochondrial metabolism. This review builds upon the existing literature to describe the principles of FLIO and established uses in retinal diseases while introducing the potential for FLIO in neurodegenerative conditions.

Chemoradiation Treatment With Or Without Concurrent Tumor-Treating Fields (Ttfields) Therapy In Newly Diagnosed Glioblastoma (Gbm) Patients In China, Liping Liang, Lingchao Chen, Chunxia Ni, Wenyin Shi, Zhirui Zhou, Shu Chen, Wenjia Zhu, Jiabing Liu, Xianxin Qiu, Wanzun Lin, Junyan Zhang, Zhiyong Qin, Yang Wang

Department of Radiation Oncology Faculty Papers

BACKGROUND: Tumor-treating fields (TTFields) therapy and radiotherapy may have synergistic anti-glioma effect based on preclinical studies. The combination of chemoradiation therapy (CRT) with TTFields therapy has noticeably attracted clinicians' attention. This study aimed to provide insights into the clinical outcomes of patients with newly diagnosed glioblastoma who received either concurrent CRT and TTFields therapy or adjuvant TTFields therapy following CRT. The findings were based on a cohort of patients who were treated at Huashan Hospital (Shanghai, China).

METHODS: This retrospective study analyzed ndGBM patients' clinical outcomes who were treated at Huashan Hospital and received TTFields therapy. Patients were categorized into …

A Randomized Phase Ii/Iii Study Of Paclitaxel/Carboplatin/Metformin Versus Paclitaxel/Carboplatin/Placebo As Initial Therapy For Measurable Stage Iii Or Iva, Stage Ivb, Or Recurrent Endometrial Cancer: An Nrg Oncology/Gog Study, Victoria L. Bae-Jump, Michael W. Sill, Paola A. Gehrig, Jason D. Merker, David L. Corcoran, Adam D. Pfefferle, Michele C. Hayward, Joan L. Walker, Andrea R. Hagemann, Steven E. Waggoner, Roisin E. O'Cearbhaill, Megan E. Mcdonald, Mitchell I. Edelson, Paul A. Disilvestro, Amy L. Mcnally, Aimee Fleury, Ramey D. Littell, Frederick R. Ueland, Heather A. Lankes, Carol Aghajanian

Abington Jefferson Health Papers

INTRODUCTION: We evaluated the efficacy of the addition of the anti-diabetic drug metformin to standard-of-care paclitaxel and carboplatin (PC) in patients with advanced and recurrent endometrial cancer (EC).

METHODS: In this phase II/III trial, EC patients with chemotherapy-naïve stage III/IVA (with measurable disease) and stage IVB or recurrent (with or without measurable disease) disease were randomly assigned to PC/metformin (850 mg BID) versus PC/placebo. Metformin or placebo was continued as maintenance therapy after completion of PC until disease progression. The primary endpoint of phase II was progression-free survival (PFS). The primary endpoint of phase III was overall survival (OS). Secondary …

Association Of Inflammatory Biomarkers With New Functional Morbidity At Hospital Discharge In Children Who Survive Severe Sepsis, Mallory Perry-Eaddy, Walter Faig, Martha Curley, Scott Weiss

Department of Pediatrics Faculty Papers

OBJECTIVE: New functional morbidity is common in critically ill children who survive sepsis; yet, the underlying biological mechanisms, particularly the impact of inflammation, remain unknown. We sought to test the hypothesis that increased levels of inflammatory biomarkers during the acute phase of pediatric sepsis are associated with new functional morbidity at hospital discharge.

METHODS: We conducted a post hoc secondary analysis of the MitoPSe clinical study, including N = 119 critically ill children who survived sepsis. Data collected included demographic and clinical variables and 31 inflammatory biomarkers collected at three distinct timepoints (within days 1-2 of PICU admission, days 3-5, …

Predictors Of Perioperative Stroke In Patients With Ischemic-Type Moyamoya Disease Treated With Surgical Revascularization: A Retrospective Multicenter Study, Basel Musmar, Joanna M. Roy, Hammam Abdalrazeq, Elias Atallah, Kareem El Naamani, Ching-Jen Chen, Roland Jabre, Hassan Saad, Jonathan A. Grossberg, Adam A. Dmytriw, Aman B. Patel, Mirhojjat Khorasanizadeh, Christopher S. Ogilvy, Ajith J. Thomas, Andre Monteiro, Adnan Siddiqui, Gustavo M. Cortez, Ricardo A. Hanel, Guilherme Porto, Alejandro M. Spiotta, Anthony J. Piscopo, David M. Hasan, Mohammad Ghorbani, Joshua Weinberg, Shahid M. Nimjee, Kimon Bekelis, Mohamed M. Salem, Jan-Karl Burkhardt, Akli Zetchi, Charles Matouk, Brian M. Howard, Rosalind Lai, Rose Du, Rawad Abbas, Georgios S Sioutas, Abdelaziz Amllay, Alfredo Munoz, Nabeel A Herial, Stavropoula I Tjoumakaris, Michael Reid Gooch, Robert H Rosenwasser, Pascal Jabbour

Department of Neurosurgery Faculty Papers

INTRODUCTION: Moyamoya disease (MMD) is a chronic cerebrovascular disorder characterized by progressive stenosis or occlusion of the internal carotid arteries and the development of collateral moyamoya vessels. Surgical revascularization is commonly used to prevent future ischemic events in ischemic-type MMD, but there remains a high rate of stroke perioperatively. This study aims to analyze the predictive factors for perioperative stroke in patients with ischemic-type MMD undergoing surgical revascularization using a large multicenter database.

METHODS: We conducted a multicenter retrospective study in accordance with the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guidelines. This study included patients with ischemic-type …

Cryptic Kmt2a::Afdn Fusion Due To Afdn Insertion Into Kmt2a In A Patient With Acute Monoblastic Leukemia, Qing Wei, Gokce A Toruner, Beenu Thakral, Keyur P Patel, Naveen Pemmaraju, Sa A Wang, Rashmi Kanagal-Shamanna, Guilin Tang, Ghayas C Issa, Sanam Loghavi, L Jeffrey Medeiros, Courtney Dinardo

Faculty, Staff and Student Publications

Background: KMT2A rearrangements occur in ~10% of acute myeloid leukemia (AML) cases and are critical for classification, risk stratification, and use of targeted therapy. However, insertions involving the KMT2A gene can evade detection using chromosomal analysis and/or fluorescence in situ hybridization (FISH).

Methods: We present a case of a 22-year-old woman with acute monoblastic leukemia harboring a cryptic KMT2A::AFDN fusion identified by RNA sequencing. Initial FISH showed a 3' KMT2A deletion, while conventional karyotyping and the automated bioinformatic pipeline for optical genome mapping (OGM) did not identify the canonical translocation.

Results: To resolve these discrepancies, metaphase KMT2A FISH (break-apart fusion …

Epilepsy In The Hispanic Population In The Rgv: A Five-Year Retrospective Chart Review, Megan W. Szobody, Kelsey Potter-Baker

Research Symposium

Introduction: Epilepsy is a seizure disorder characterized by abnormal electrical patterns in the brain that lead to changes in synchronization of neuronal firing patterns. Presentations of seizures vary, and include convulsions, changes in awareness, loss of consciousness, or unusual sensations. Approximately 3.4 million Americans suffer from epilepsy, with close to 15,000 in the Rio Grande Valley (RGV). The RGV is home to a vast Hispanic population, with 91% of its population identifying as Hispanic or Latino, according to the American Immigration Council’s research in 2019. However, literature on the prevalence, and presentation of epilepsy within the Hispanic population …

Superior Vena Cava Syndrome Due To Germ Cell Tumor In A Young Adult: Case Report, Manlio F. Lara Duck, Netzahualcoyotl Mayek Pérez, Juan Rosales Martínez

Research Symposium

Background: In superior vena cava syndrome (SVCS), the superior vena cava becomes mechanically obstructed by venous thrombus formation or by compression caused by intrathoracic tumors. SVCS is most common in men over 45 years of age; 22.5% of patients with SVCS have stage IV lung cancer or lymphoma. SVCS may occur secondary to extrathoracic tumors (testicular, ovarian, kidney, intestinal).

Case presentation: Male (24 years old) with a history of cancer in his maternal grandmother; denied drug addiction. Factory worker who denied being in direct contact with any chemicals and/or toxins. He reported non-productive cough; paroxysmal unilateral left facial edema without …