Digital Commons Network^™

An Endocrine Enigma: The Implications Of Pembrolizumab Therapy, Miguel A. Lopez, Mario Trujillo Acosta, Jose Romero Villarreal Calderon, Laura Garcia

Research Symposium

Disorders of the endocrine system are a potential complication of cancer treatment despite newer immunotherapy agents holding promise to improve patient outcomes. Breast cancer in particular requires pharmacologic intervention based on the receptor positivity. For example, a triple negative workup often requires neoadjuvant therapy with the newer immunotherapy agent pembrolizumab. Clinicians should be aware of the potential adverse effects of this drug, most notably adrenal insufficiency. This case follows a 52 year old hispanic female patient with a history of triple negative left sided breast cancer on immunotherapy with pembrolizumab, who presented to the emergency department after a syncopal episode …

Exercise And Hypertrophic Cardiomyopathy: Risks, Benefits, And Safety - A Systematic Review And Meta-Analysis, Arif Albulushi, Qasim Al Abri, Ahmed Tawfek, Ahmed Reza Bagheri, Said Al-Hinai

Journal of the Saudi Heart Association

Hypertrophic cardiomyopathy (HCM) is often associated with conservative exercise recommendations due to the risk of sudden cardiac death (SCD). However, emerging evidence suggests that tailored exercise programs may provide significant benefits to HCM patients. This systematic review and meta-analysis evaluated the impact of different types and intensities of exercise on clinical outcomes and quality of life in HCM patients, assessed the role of exercise in preventing disease progression and arrhythmias, and determined the safety and efficacy of structured exercise programs tailored to individual risk profiles.

A comprehensive literature search was conducted using PubMed, Embase, Cochrane Library, and relevant cardiology journals. …

The Unusual Suspect - Herpes Zoster As The Culprit For Severe Abdominal Pain. A Case Report., Edward Lovering, Ahmad Asif, Sean Sheih, Samuel B Holzman, Yani Zhang

Journal of Community Hospital Internal Medicine Perspectives

Reactivation of herpes zoster leading to disseminated and visceral organ involvement is an uncommon phenomenon and almost always associated with immunocompromised patients. Visceral herpes zoster is a challenging diagnosis to make as patients typically present with severe abdominal pain which precedes the typical rash of herpes zoster. We describe the case of a 68-year-old female who presented to the emergency department with abdominal pain and was subsequently diagnosed with disseminated herpes zoster and found to have underlying monoclonal gammopathy.

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 …

New Onset Atrial Fibrillation In Hospitalized Patients, Arafat Ali Farooqui, Syed Mohammad Mazhar Uddin, Sanjay Kumar Maheshwari, Kevin Clements, Rabiah Ashraf, Jay Keith, Neha Sharma, Haris Bilal, Naira Saleem, Vijay S. Shetty

Journal of Community Hospital Internal Medicine Perspectives

Objectives: To evaluate different factors precipitating new onset atrial fibrillation (AF) in hospitalized patients and their effect on in-patient mortality.

Design: Retrospective cross-sectional study

Setting: Urban tertiary care center in New York City

Measurements:

Primary outcomes:

• Determine different factors precipitating new onset atrial fibrillation in hospitalized patients and their effect on in-patient mortality

Secondary outcomes:

• Determine the duration of hospital stay after admission precipitating new onset atrial fibrillation and its effect on mortality
• Evaluate different factors in COVID-19 patients with new onset atrial fibrillation

Results: Out of 464 patients; 62.3% were males and 37.72% were females. Evaluation of patients before …

Navigating Thyroid Crises: A Nationwide Analysis Of The Weekend Effect And Mortality Trends In Myxedema Coma (2016-2020), Mariam Hashmi, Zubair Hassan Bodla, Fatima Niaz, Umer Farooq, Zahra Niaz, Christopher L. Bray, Peters Okonoboh

Journal of Community Hospital Internal Medicine Perspectives

Our objective was to utilize the National Inpatient Sample (NIS) database for analyzing the outcomes of myxedema coma based on the day of admission and explore five-year mortality trends. This retrospective cohort study examined in-patient mortality and secondary outcomes of patients with myxedema coma from 2016 to 2020 using the NIS database. Patients were selected using International Classification of Diseases, Tenth Revision, Clinical Modification (ICD-10-CM) codes and divided into weekday and weekend admission groups. From 174,776,205 discharges, 5,095 patients were included. Mean age of admitted patients was higher on weekdays (67.1 year) than weekends (66.5), with females constituting 69.4% and …

Assisted Reproductive Technology (Art) In The Mountain West, 2022, Caitlin J. Saladino, Kristian Thymianos, William E. Brown Jr., Monserrat Cristando-Romo, Taylor Volk, Yashesvi Sharma

Health

This fact sheet examines data on Assisted Reproductive Technology (ART) clinics located in five Mountain West states: Arizona, Colorado, Nevada, New Mexico, and Utah. The Centers for Disease Control and Prevention 2022 Fertility Clinic Success Rates Report includes data from all 50 states and provides information on ART services offered by individual clinics, including data on total cycles, fertility preservation cycles, pregnancies, deliveries, and total infants born.

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, …

Heart Failure In Black Populations: Epidemiology, Pathophysiology, And Treatment Disparities, Kazi N. Islam, Rahib K. Islam, Ivan Nguyen, Yasmeen Magherahabed, Humza Pirzadah, M. Bazlur Rashid

School of Medicine Faculty Publications

Heart failure (HF) remains a significant health challenge globally, placing a heavy burden on individuals, families, and healthcare systems. The prevalence of HF continues to rise, posing substantial public health concerns. This burden is particularly pronounced among the Black Population, who face higher prevalence, earlier onset, and greater severity of HF compared to other racial and ethnic groups. This review explores the multifaceted landscape of HF in Black individuals by examining epidemiological patterns, pathophysiological mechanisms, clinical presentations, treatment disparities, and clinical outcomes. Black individuals exhibit distinct pathophysiological characteristics, such as genetic variations contributing to heightened susceptibility and severity of HF. …

Consensus Recommendations For An Integrated Diagnostic Approach To Peripheral Nerve Sheath Tumors Arising In The Setting Of Neurofibromatosis Type 1, Calixto-Hope G Lucas, Andrea M Gross, Carlos G Romo, Carina A Dehner, Alexander J Lazar, Markku Miettinen, Melike Pekmezci, Martha Quezado, Fausto J Rodriguez, Anat Stemmer-Rachamimov, David Viskochil, Arie Perry

Faculty, Staff and Student Publications

Consensus recommendations published in 2017 histologically defining atypical neurofibromatous neoplasm of uncertain biologic potential (ANNUBP) and malignant peripheral nerve sheath tumor (MPNST) were codified in the 2021 WHO Classification of Tumors of the Central Nervous System and the 2022 WHO Classification of Tumors of Soft Tissue and Bone. However, given the shift in diagnostic pathology toward the use of integrated histopathologic and genomic approaches, the incorporation of additional molecular strata in the classification of Neurofibromatosis Type 1 (NF1)-associated peripheral nerve sheath tumors should be formalized to aid in accurate diagnosis and early identification of malignant transformation and enable appropriate intervention …

Immunotherapy-Related Neurotoxicity In The Central Nervous System Of Children With Cancer, Jiasen He, Jeremy Connors, Andrew Meador, Shuo Xu, Heather Meador, Hong Jiang, Juan Fueyo, Candelaria Gomez-Manzano, Gregory K Friedman, Wafik Zaky, Zsila Sadighi, John M Slopis, Ali H Ahmad

Faculty, Staff and Student Publications

Significant gaps remain in our understanding of immunotherapy-related neurotoxicity in pediatric patients, largely because much of our knowledge comes from studies in adults. Accurately identifying the adverse effects of immunotherapy in children is also challenging, owing to variations in terminology and grading systems. Moreover, the manifestation of immunotherapy-related neurotoxicity differs greatly across different diseases, various modalities, dosages, and delivery methods. Combining immunotherapy with other treatments might improve outcomes but introduces new complexities and potential for increased toxicities. Additionally, pediatric patients with intracranial malignancy have unique responses to immunotherapies and distinct neurotoxicity compared to those with extracranial malignancy. Consequently, we must …

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 …

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 …

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 …

Clinical And Genetic Markers Of Vascular Toxicity In Glioblastoma Patients: Insights From Nrg Oncology Rtog-0825, Joshua D Strauss, Mark R Gilbert, Minesh Mehta, Ang Li, Renke Zhou, Melissa L Bondy, Erik P Sulman, Ying Yuan, Yanhong Liu, Elizabeth Vera, Merideth M Wendland, Volker W Stieber, Vinay K Puduvalli, Serah Choi, Nina L Martinez, H Ian Robins, Grant K Hunter, Chi-Fan Lin, Vivian A Guedes, Melissa A Richard, Stephanie L Pugh, Terri S Armstrong, Michael E Scheurer

Faculty, Staff and Students Publications

Background: Glioblastoma (GBM) is an aggressive form of brain cancer in which treatment is associated with toxicities that can result in therapy discontinuation or death. This analysis investigated clinical and genetic markers of vascular toxicities in GBM patients during active treatment.

Methods: In total, 591 non-Hispanic White GBM patients with clinical data were included in the analysis from NRG RTOG-0825. Genome-wide association studies (GWAS) were performed from genotyped blood samples (N = 367) by occurrence of thrombosis or hypertension (grade ≥ 2). A clinical prediction model was produced for each vascular toxicity. Significant GWAS variants were then added to the …

Outcomes Of Double Free Flap Reconstruction For Advanced Head And Neck Tumors In A Safety-Net Hospital Population, Yossef Alsabawi, John M. Gaddis, Angela D. Haskins, Jonathan Shum, David J. Hernandez

Research Symposium

Background: Double-free flap reconstruction has emerged as a viable option for addressing more complicated defects after oncologic resection. We aim to report the feasibility of this approach at a single-institutional safety net hospital.

Methods: A retrospective chart review was performed between November 2020 and October 2023 for adult patients who underwent multiple, simultaneous free tissue transfers for head and neck defects following tumor resection. This study occurs at Ben Taub Hospital, a safety net hospital in Houston, Texas. Data collected included demographics, risk factors, oncologic and operative details, complications, and functional and disease outcomes. Socioeconomic status was assessed …

Primary Care Behavioral Health Partnerships Advancing & Transforming Health Sciences (Pcbh Paths): An Initiative To Address Health Disparities And Promote Equitable Care In The Rio Grande Valley (Rgv), Deepu George, Joanna Garza, Maria G. Hernandez, Yvette K. Cantu Cazares, Monica C. Perez, Yvette K. Cantu Cazares, Mayrin A. Perez

Research Symposium

Purpose: The Rio Grande Valley (RGV) faces significant socio-economic challenges, with 35.6% of residents living in poverty and uninsured rates as high as 40%. Each year, approximately 260,000 residents experience mild to moderate behavioral health conditions. Behavioral health care in the region is particularly scarce, with only 30.1 mental health providers per 100,000 compared to the statewide average of 72.7. Furthermore, approximately 90.5% of the population identifies as Hispanic/Latino, so culturally relevant interventions are critical. The Primary Care Behavioral Health Partnerships Advancing & Transforming Health Sciences (PCBH PATHS) Initiative addresses these disparities by 1) developing a PCBH model tailored to …

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 …

Clinical Relapse Versus Treatment Failure: The Case For Surveillance For Re-Appearance Of Minimal Measurable Disease In Pediatric Patients With Higher Risk B-All, Paul S. Gaynon, Linwei Li

Research Symposium

Background: Despite significant advancements in the treatment of pediatric B-cell acute lymphoblastic leukemia (B-ALL), chemotherapy has reached its end of “intensification” stage despite improvements in supportive care. Moreover, relapse remains a major challenge, particularly in high-risk populations such as adolescents and young adults (AYAs). The definition of threshold for clinical relapse as 25% presence of marrow lymphoblasts was established decades ago, which may be incoherent with current therapeutic strategies and delay the window for timely treatment for relapsed patients. Emerging data suggest that early detection of minimal residual disease (MRD) may offer an opportunity to intervene before clinical relapse, improving …

Changes In Brain Functional Connectivity Associated With Transcutaneous Auricular Vagus Nerve Stimulation In Healthy Controls, Daniel A. Monti, Nancy Wintering, Faezeh Vedaei, Alicia Steinmetz, Feroze Mohamed, Andrew B. Newberg

Marcus Institute of Integrative Health Faculty Papers

PURPOSE: A growing number of research studies have explored the potential effects of vagus nerve stimulation (VNS) on brain physiology as well as clinical effects particularly related to stress and anxiety. However, there currently are limited studies showing functional changes during different frequencies of stimulation and laterality effects transcutaneous auricular VNS (TaVNS). In this study, we evaluated whether TaVNS alters functional connectivity in the brain of healthy controls. We hypothesized that TaVNS would significantly alter connectivity in areas involved with emotional processing and regulation including the limbic areas, insula, frontal lobe regions, and cerebellum.

METHODS: We enrolled 50 healthy controls. …

The Advancement And Utility Of Multimodal Imaging In The Diagnosis Of Degenerative Disc Disease, Eric M. Teichner, Robert C. Subtirelu, Connor R. Crutchfield, Chitra Parikh, Arjun Ashok, Sahithi Talasila, Victoria Anderson, Milan Patel, Sricharvi Mannam, Andrew Lee, Thomas Werner, William Y. Raynor, Abass Alavi, Mona-Elisabeth Revheim

SKMC Student Presentations and Publications

Degenerative disc disease (DDD) is a common spinal condition characterized by the deterioration of intervertebral discs, leading to chronic back pain and reduced mobility. While magnetic resonance imaging (MRI) has long been the standard for late-stage DDD diagnosis, its limitations in early-stage detection prompt the exploration of advanced imaging methods. Positron emission tomography/computed tomography (PET/CT) using ¹⁸F- fluorodeoxyglucose (FDG) and ¹⁸F-sodium fluoride (NaF) has shown promise in identifying metabolic imbalances and age-related spinal degeneration, thereby complementing CT grading of the disease. The novel hybrid imaging modality PET/MRI provides new opportunities and are briefly discussed. The complex pathophysiology of …

Evolving Trends In Retinoblastoma Management: A 16-Year Clinicopathological Analysis Of Enucleated Eyes, Ari H. August, Darcy Curtis, Maya Eiger-Moscovich, Antonio Yaghy, Sara E. Lally, Jerry A. Shields, Carol L. Shields, Ralph C. Eagle, Tatyana Milman

Wills Eye Hospital Papers

PURPOSE: New treatments for advanced retinoblastoma (RB) have offered alternatives to primary enucleation. We assessed the impact of these therapies on the indications for enucleation and the histopathological findings in enucleated eyes with RB.

MATERIALS AND METHODS: Eyes of all patients who underwent enucleation for RB at a single institution between January 2005 and August 2021 were included. Data collected retrospectively included demographics, clinical and pathologic staging, pathologic findings, and management. Statistical analysis included Kendall’s τb, Pearson χ², and Cramér’s V.

RESULTS: There were 254 eyes from 252 patients with information available for review. Annual enucleations decreased between …

Roles Of Mir-223 In Platelet Function And High On-Treatment Platelet Reactivity: A Brief Report And Review, Shayan Askari, Lawrence E. Goldfinger

Cardeza Foundation for Hematologic Research

BACKGROUND: Platelets are highly enriched in microRNAs (miRNAs), which are genomically encoded 19-25 nucleotide non-coding RNAs that target complementary mRNAs through total or near-total base pairing. MiR-223 is among the most abundant miRNAs in human and murine platelets, but despite ongoing investigations in recent years, miR-223 roles in platelet physiology and its putative roles in high on-treatment platelet reactivity (HTPR) remain controversial, as studies showed varying findings.

OBJECTIVES: In the current hybrid review/report, we aim to compare studies that investigated miR-223 in platelet function and HTPR. Additionally, we briefly report our own findings on murine miR-223-deficient platelets.

METHODS: We have …

Structure-Function Relationship Of Ash1l And Histone H3k36 And H3k4 Methylation, Kendra R Vann, Rajal Sharma, Chih-Chao Hsu, Maeva Devoucoux, Adam H Tencer, Lei Zeng, Kevin Lin, Li Zhu, Qin Li, Catherine Lachance, Ruben Rosas Ospina, Qiong Tong, Ka Lung Cheung, Shuai Yang, Soumi Biswas, Hongwen Xuan, Jovylyn Gatchalian, Lorena Alamillo, Jianlong Wang, Suk Min Jang, Brianna J Klein, Yue Lu, Patricia Ernst, Brian D Strahl, Scott B Rothbart, Martin J Walsh, Michael L Cleary, Jacques Côté, Xiaobing Shi, Ming-Ming Zhou, Tatiana G Kutateladze

Faculty, Staff and Student Publications

The histone H3K36-specific methyltransferase ASH1L plays a critical role in development and is frequently dysregulated in human diseases, particularly cancer. Here, we report on the biological functions of the C-terminal region of ASH1L encompassing a bromodomain (ASH1LBD), a plant homeodomain (ASH1LPHD) finger, and a bromo-adjacent homology (ASH1LBAH) domain, structurally characterize these domains, describe their mechanisms of action, and explore functional crosstalk between them. We find that ASH1LPHD recognizes H3K4me2/3, whereas the neighboring ASH1LBD and ASH1LBAH have DNA binding activities. The DNA binding function of ASH1LBAH is a driving force for the association of ASH1L with the linker DNA in the …

Identification Of Genes Associated With Testicular Germ Cell Tumor Susceptibility Through A Transcriptome-Wide Association Study, Emilio Ugalde-Morales, Rona Wilf, John Pluta, Alexander Ploner, Mengyao Fan, Mohammad Damra, Katja K Aben, Lynn Anson-Cartwright, Chu Chen, Victoria K Cortessis, Siamak Daneshmand, Alberto Ferlin, Marija Gamulin, Jourik A Gietema, Anna Gonzalez-Niera, Tom Grotmol, Robert J Hamilton, Mark Harland, Trine B Haugen, Russ Hauser, Michelle A T Hildebrandt, Robert Karlsson, Lambertus A Kiemeney, Jung Kim, Davor Lessel, Ragnhild A Lothe, Chey Loveday, Stephen J Chanock, Katherine A Mcglynn, Coby Meijer, Kevin T Nead, Jeremie Nsengimana, Maja Popovic, Thorunn Rafnar, Lorenzo Richiardi, Maria S Rocca, Stephen M Schwartz, Rolf I Skotheim, Kari Stefansson, Douglas R Stewart, Clare Turnbull, David J Vaughn, Sofia B Winge, Tongzhang Zheng, Alvaro N Monteiro, Kristian Almstrup, Peter A Kanetsky, Katherine L Nathanson, Fredrik Wiklund, Testicular Cancer Consortium

Faculty, Staff and Student Publications

Transcriptome-wide association studies (TWASs) have the potential to identify susceptibility genes associated with testicular germ cell tumors (TGCTs). We conducted a comprehensive TGCT TWAS by integrating genome-wide association study (GWAS) summary data with predicted expression models from normal testis, TGCT tissues, and a cross-tissue panel that encompasses shared regulatory features across 22 normal tissues, including the testis. Gene associations were evaluated while accounting for variant-level effects from GWASs, followed by fine-mapping analyses in regions exhibiting multiple TWAS signals, and finally supplemented by colocalization analysis. Expression and protein patterns of identified TWAS genes were further examined in relevant tissues. Our analysis …