Digital Commons Network^™

The All Of Us Evenings With Genetics Research Program, Stacy M Lloyd, Jasmine Baker, Carolina Jorgez, Julie Coleman, Laterrica Williams, April Adams, Ashley Butler, Elizabeth Atkinson, Shamika Ketkar, Steven Scherer, Kim Worley, Susan Fernbach, Keasia Daniels, Latanya Hammonds-Odie, Laura Rosales, Brendan Lee, Debra Murray

Faculty, Staff and Students Publications

The All of Us Evenings with Genetics (All of Us EwG) Research Program, funded in part by the National Institute of Health’s All of Us Research Program, engages researchers to utilize the All of Us Researcher Workbench to advance precision medicine. The All of Us EwG program has two core aims: (1) address barriers to research productivity for minorities, disadvantaged, and persons with disabilities aspiring to enter STEM fields; and (2) promote the use of the All of Us Researcher Workbench to develop research focused on health equity. To achieve these goals, the program implements three key activities: (1) …

Genome-Wide Association Study Identifies And Validates Genetic Variation In The Rig-I/Mavs Signaling Pathway Associated With Hiv-Related Kaposi Sarcoma In Children And Adults, Casey L Mcatee, Erin Peckham-Gregory, Pagna Sok, Melissa Richard, Luis Olivares, Deborah Marquez-Do, Grace Kisitu, Jeffrey Martin, Nader Kim El-Mallawany, Carl E Allen, Joseph Lubega, Michael E Scheurer

Faculty, Staff and Students Publications

Introduction: Immune deficiency and infection with human herpesvirus-8 (HHV-8) are established component causes of Kaposi sarcoma (KS), but they are insufficient to cause disease in most people at risk. Therefore, we hypothesized that genetic variation may contribute to KS risk in children and adults, as well as contribute to its unique epidemiology in sub-Saharan Africa.

Methods: To test this hypothesis, we conducted a two-phase genome-wide association study (GWAS): a discovery study in perinatally HIV-infected children (45 KS cases, 91 controls), followed by validation of significant results in a sample of adults living with HIV (215 cases, 262 controls). After standard …

Multi-Omics To Study Chronic Respiratory Diseases And Viral Infections, Sobia Idrees, Hao Chen, Tayyaba Sadaf, Saima Firdous Rehman, Matt D Johansen, Keshav Raj Paudel, Gang Liu, Yuting Wang, Malte D Luecken, Elinor Hortle, Ashleigh S Philp, Kurtis F Budden, Matthew O'Rourke, Gerard E Kaiko, Sionne E M Lucas, Joanne L Dickinson, Peter C Allen, Joseph E Powell, Lai-Ying Zhang, Daniel C Chambers, Tamera Corte, Gaetano Caramori, Maor Sauler, Peter A Wark, Janine Gote-Schniering, Mareike Lehmann, Thomas M Conlon, Theodore S Kapellos, Ali Önder Yildirim, Rosa Faner, Shyamali C Dharmage, Craig E Wheelock, Maarten Van Den Berge, Martijn C Nawijn, Francesca Polverino, Gabrielle T Belz, Sanjay H Chotirmall, Leopoldo N Segal, Alen Faiz, Philip M Hansbro

Faculty, Staff and Students Publications

Integrating omics layers reveals complex biological systems, unveiling vital insights into chronic respiratory diseases and COVID-19. This holistic approach is crucial for developing more effective treatments and understanding intricate relationships. https://bit.ly/3VKFzJH

Surface Marker Identification To Capture Live Circulating Tumor Cells In Metastatic Triple-Negative Breast Cancer, Bree M Lege, Khushali J Patel, Brendan Panici, Ping Gong, Michael T Lewis, Matthew J Ellis, Chonghui Cheng

Faculty, Staff and Students Publications

Metastatic triple-negative breast cancer (TNBC) is highly aggressive and lacks targeted therapies. Circulating tumor cells (CTC) are invaluable for monitoring metastatic tumor progression and treatment response but are difficult to capture because of their rarity and heterogeneity. Surface-based staining for live CTCs is essential to preserve RNA quality in single cells, but current markers tend to perform poorly on more mesenchymal tumor cells such as TNBCs. To enhance live TNBC CTC detection, we developed a workflow for live CTC capture and single-cell RNA sequencing (scRNA-seq). Using a mouse model of metastatic TNBC, we identified four new CTC surface markers, AHNAK2, …

Empowering Through Structured Boundaries: An Integral Model For Fostering Balanced Eating And Nutritional Well-Being, Citrine Elatrash, Colleen Macke, Jenna Shi, Theresa Wilson, Sarah H Elsea, Stephanie Sisley

Faculty, Staff and Students Publications

Purpose: Treating obesity in complex disorders requires individualized health management plans. Effective obesity management in the Smith-Magenis syndrome (SMS) population has multiple inherent barriers related to their cognitive impairments, anxiety, behavioral disturbances, and sleep disorders. However, to date, no research exists related to strategies caregivers successfully employ to help individuals with SMS manage their food intake and mitigate associated behaviors.

Methods: We performed a qualitative thematic analysis of group interviews from 23 caregivers representing 21 individuals with SMS. Hybrid thematic analysis revealed that successful strategies employed by caregivers in this unique population revolved around a global theme of Empowering Through …

Lysine Demethylase 4a Is A Centrosome-Associated Protein Required For Centrosome Integrity And Genomic Stability, Pratim Chowdhury, Xiaoli Wang, Richard I Han, Manga Motrapu, Ashley G Boice, Yuya Nakatani, Sofia Vargas-Hernandez, Julia F Love, Claude Chew, Sandra L Grimm, Dereck Mezquita, Frank M Mason, Elisabeth D Martinez, Cristian Coarfa, Cheryl L Walker, Anna-Karin Gustavsson, Ruhee Dere

Faculty, Staff and Students Publications

Centrosomes play a fundamental role in nucleating and organizing microtubules in the cell and are vital for faithful chromosome segregation and maintenance of genomic stability. Loss of structural or functional integrity of centrosomes causes genomic instability and is a driver of oncogenesis. Here we identify lysine demethylase 4A (KDM4A), an epigenetic 'eraser' of chromatin methyl marks, as a centrosome-localized protein, visualized at the nanometer-scale resolution. We additionally uncovered that KDM4A demethylase enzymatic activity is required to maintain centrosome homeostasis and integrity; a previously unknown functionality unlinked to altered expression of genes regulating centrosome number. We find that KDM4A interacts with …

Highly Effective Combination Of Brg1/Brm Inhibitor With Bet Inhibitor Or Decitabine For High-Risk Mecom-Rearranged Aml, Warren Fiskus, Christopher P Mill, Jessica Piel, Mike Collins, Murphy Hentemann, Branko Cuglievan, Christine E Birdwell, Kaberi Das, John A Davis, Hanxi Hou, Antrix Jain, Anna Malovannaya, Lauren B Flores, Tapan M Kadia, Naval Daver, Koji Sasaki, Koichi Takahashi, Danielle Hammond, Jian Wang, Sanam Loghavi, Xiaoping Su, Courtney D Dinardo, Ruud Delwel, Kapil N Bhalla

Faculty, Staff and Students Publications

In AML with 3q26.2 rearrangements (r) the distal GATA2 hematopoietic enhancer becomes aberrantly relocated leading to activation of EVI1 expression. EVI1 is a transcriptional regulator that plays a role in proliferation and maintenance of a stem cell-like phenotype in AML. BRG1 (SMARCA4) and BRM (SMARCA2) are the mutually exclusive ATPases of the BAF (BRG1/BRM-associated factor) chromatin remodeling complexes. They regulate access to enhancers/promoters and gene-expressions orchestrating AML stem/progenitor cell proliferation and differentiation. AML with 3q26.2 rearrangements are clinically challenging and prognosis remains very poor. FHD-286 is an orally bioavailable, selective inhibitor of BRG1/BRM under clinical development in AML. Present studies …

School-Level Gaps In Mmr Coverage As The Fuel For Measles Outbreaks, Meagan C Fitzpatrick, Chad R Wells, Abhishek Pandey, Lamia Ayaz, Peter J Hotez, Seyed M Moghadas, Alison P Galvani

Faculty, Staff and Students Publications

No abstract provided.

Priced Out Of Treatment: The Exorbitant Cost Of Antiparasitic Drugs In The United States, Cora Alperin, Nhi Nguyen, Megan Duffey, Eva H Clark

Faculty, Staff and Students Publications

Parasitic infections are often perceived as diseases of low-resource countries, yet they impose a significant and overlooked burden in the United States—especially among immigrants, low-income individuals, and other marginalized populations. This perspectives article examines the case of Mr. X, a landscaper in Houston diagnosed with neurocysticercosis, who faced unaffordable drug costs despite the availability of effective, off-patent treatments. Through his story, we explore the broader issue of pricing for commonly and not-so-commonly prescribed antiparasitic medications, highlighting the role of systemic market failures, regulatory hurdles, and restrictive assistance programs in limiting access to care. The consequences of incomplete treatment include long-term …

Review Of Outcomes: Quality Improvement Of Upper-Extremity Necrotizing Soft Tissue Infections, Cailey A. England Bs, Ryan A. Reinhart Bs, Tien Do Do, Maame A. Effirim Bs, Dylan Bezzini Md

Summer Research Program Abstracts

No abstract provided.

Use Of Sonorheometry To Treat Trauma-Induced Coagulopathy, Dawson L. Weiss, Gabrielle E. Hatton, Miranda E. Wood, Oscar I. Estrada Munoz, David H. Kim, John A. Harvin

Summer Research Program Abstracts

No abstract provided.

A Community-Informed Survey Identifying Research Priorities For Sex Chromosome Aneuploidies, Matthew Fein

Summer Research Program Abstracts

No abstract provided.

Assessing Access To Orthopaedic Care For Patients With Osteogenesis Imperfecta, Annemarie K. Leonard, Kara Ayers, Lauren Faokunla, Kaeli Samson, Erika Carter, Tracy Hart, Maegen Wallace

Graduate Medical Education Research Journal

Background. Osteogenesis Imperfecta (OI) is a rare disorder caused by variations in collagen. Clinical manifestations include multiple fractures, short stature, scoliosis, blue sclera, hearing loss, and opalescent teeth. Patients often need many different medical providers frequently, which may place financial burdens on families. This study sought to identify and understand barriers to care for children with OI.

Methods. We utilized an Institutional Review Board (IRB)-approved survey for primary caregivers of children with OI. Questions included demographic data, type of health insurance, history of and reasons for insurance denials, access to multidisciplinary OI care, and travel to receive OI care. The …

Research Productivity Variation In Applicants Who Matched Into Home Orthopaedic Surgery Programs, Frances Akwuole, Cole Christenson, Freddy Jacome, James Macleod, Omar Shaikh, Michael W. Pullen, Avani Chopra, Owen Lema, Justin Lee, Sia Cho, Annemarie K. Leonard, Alfonso Mejia

Graduate Medical Education Research Journal

Background. Research output among orthopaedic surgery applicants remains an important factor in the orthopaedic surgery residency selection process. However, there is limited literature comparing objective measures such as research productivity across different types of orthopaedic surgery applicants. We aim to determine if students who match at their home programs have significantly different research productivity and, secondarily, Alpha Omega Alpha (AOA) membership rates, compared to those who match at external programs.

Methods. This study was conducted in April 2024. A list of orthopaedic surgery residents was acquired from publicly available websites using a Python script. Programs were stratified into four geographic …

Analgesic Safety And Efficacy Of Intrathecal Morphine In Elective Posterior Lumbar Fusion: A Systematic Review With Meta-Analyses, Luke J. Weisbrod, Jordan M. Rasmussen, Cindy Schmidt, Daniel L. Surdell

Graduate Medical Education Research Journal

Background. We evaluated perioperative intrathecal morphine (ITM) compared with placebo or standard postoperative pain strategies in adults undergoing elective posterior lumbar fusion.

Methods. A systematic search of EMBASE, MEDLINE, the Cochrane Library, and Google Scholar (December 12, 2023) identified studies involving ITM in posterior lumbar fusion. Eligible patients were ≥18 years. Two reviewers extracted outcomes and assessed non-randomized studies with the Newcastle- Ottawa scale. Odds ratios (OR) and mean differences (MD) with 95% confidence intervals (CI) were calculated using fixed- and random-effects models.

Results. Eleven studies met the inclusion criteria. ITM significantly lowered opioid requirements within 24 hours (MD -0.72, …

Salt Vs. Scalpel: A Surprisingly Simple Solution To Pyogenic Granulomas, Richard M. Regester, Kimberly Eisenstein

Graduate Medical Education Research Journal

Background. Pyogenic granulomas (PGs) are benign vascular lesions commonly encountered in primary care settings. They are often linked to trauma, hormonal changes, infections, or medications. While traditional treatments such as excision, curettage, and silver nitrate application are the treatment of choice, recurrence is possible, and they may result in discomfort, anxiety, or scarring. This case highlights the successful use of salt packing, a low-cost, minimally invasive alternative, for a PG resistant to conventional therapy.

Case. A 57-year-old female presented with a 10 mm PG on the right ventral thumb, which bled intermittently and increased in size over three months. An …

A New Application For Bolt Cutters In Urogynecology: Challenging Removal Of An Impacted Pessary, Carolyn M. Payne, Courtney B. Ritchie, Tanaz R. Ferzandi

HCA Healthcare Journal of Medicine

Background

Pessaries are commonly used to treat pelvic organ prolapse. While these devices generally pose negligible risk, serious morbidity can be associated with neglected use.

Case Presentation

A 91-year-old woman began to experience acute pain related to an impacted pessary. An Exam in the operating room under anesthesia revealed that the pessary was deeply embedded within the vaginal canal and was noted to have a hard metal wire under a rubber exterior. An intraoperative orthopedic consult was obtained to facilitate discussion and selection of tools outside the typical gynecological scope to remove the pessary. A combination of bolt cutters and …

Staphylococcal Scalded Skin Syndrome In Melanated Skin: A Pediatric Case Report, Aleah Lafrancis-Ream, Scott Gutovitz, Hannah Chotiner

HCA Healthcare Journal of Medicine

Background

Staphylococcal scalded skin syndrome (SSSS) is a dermatologic emergency that most commonly affects young children, requiring prompt recognition and treatment to avoid severe symptoms and fatal sequelae. It is characterized by a desquamation of the skin caused by exotoxins produced by the Staphylococcus aureus species and may present differently in melanated skin.

Case Presentation

Our case describes a 6-month-old Black infant girl who presented to the emergency department with SSSS that was unrecognized on 2 prior encounters. This delay in diagnosis and the misapplication of topical antibacterial agents and steroids may have contributed to the worsening of her symptoms …

A Colorful Enigma: A Case Of Orange Palpebral Spots In A 63-Year-Old Woman, Obarikanemi Nwogu, Karl Kellawan

HCA Healthcare Journal of Medicine

Background

The thin, vascularized skin of the eyelids makes them prone to irritation and discoloration, potentially revealing underlying issues, such as subcutaneous deposits, and an abundance of pigments like carotenoids and lipofuscins. First described in 2008 by Assouly et al, orange palpebral spots (OPS) present as painless orange-yellow lesions on the upper eyelids, primarily affecting White women with Fitzpatrick skin types I to III. Despite various hypotheses, the exact cause of OPS remains elusive, with no established links to malignancy or systemic illnesses.

Case Presentation

A 63-year-old woman, with a medical history including basal and squamous cell carcinoma, diabetes mellitus, …

Hughes-Stovin Syndrome: A Case Report Of A 24-Year-Old Male With Pulmonary Aneurysms And Deep Vein Thrombosis, Clara Liu, Zhiyin Li, Supriya Bhupathy, Bradley Todd Andersen, Andrew Hwang

HCA Healthcare Journal of Medicine

Background

Hughes-Stovin Syndrome (HSS) is a rare vasculitis characterized by pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis. Anticoagulation, the standard treatment for venous thrombosis, is often contraindicated in HSS due to the risk of fatal pulmonary hemorrhage, especially since mortality rates of patients with a history of hemoptysis are reported at 50%-100% from PAA ruptures, yet treatment guidelines are limited due to the condition’s rarity with fewer than 90 reported cases globally. This report highlights the complex management decisions required.

Case Presentation

A 24-year-old man with a 3-month history of PAAs, left lower extremity deep vein thrombosis (DVT), and …

Wilson’S Disease Psychosis In A Young Man With Autism Spectrum Disorder: A Case Report And Focus On Management, Landon C. Sowell, Barbara L. Gracious

HCA Healthcare Journal of Medicine

Introduction

Wilson's disease is a rare autosomal recessive disorder, affecting approximately 1 in 30 000 individuals and is characterized by abnormal copper accumulation in the body, primarily affecting the liver and brain. Psychiatric manifestations as a first presentation, particularly psychosis, are less commonly recognized resulting in failure to begin treatment early in the course of the disease. This case report highlights a patient that presented to the hospital with psychosis, who was later diagnosed with Wilson’s disease. This case underscores the importance of considering organic causes in first-episode psychosis.

Case Presentation

An 18-year-old man with a history of autism spectrum …

Masld-Induced Hyperammonemia With Atypical, Restricted Diffusion Pattern Suggesting Mixed Metabolic And Hypoxic-Anoxic Injury, Renu Thomas, Nhuchau Tiffany Nguyen, Daniel Bao, Jonathan Tang, Uzma Ali, Damon Cao

HCA Healthcare Journal of Medicine

Background

Hepatic encephalopathy is a common cause of altered mental status for patients with decompensated cirrhosis. Their conditions typically improve with high-dose laxatives; if not optimally treated, can develop neurologic sequelae like cerebral edema and herniation. In severe cases, despite normal systemic oxygenation, hyperammonemia may result in mixed restricted diffusion patterns that partially resemble those seen in hypoxic-anoxic brain injury.

Case Presentation

A 61-year-old woman with cirrhosis secondary to metabolic dysfunction-associated steatotic liver disease, scleroderma, and rheumatoid arthritis presented to the emergency room with altered mental status. She was admitted to the intensive care unit (ICU) and was intubated due …

Optimal Local Impedance Parameters For Catheter Ablation Of The Cavo-Tricuspid Isthmus In Atrial Flutter Patients: A Retrospective Analysis, Yamann Sahlool, Yann Dacquay, Saro Avedikian, Jeong Hwan J. Kim, Ali Sovari

HCA Healthcare Journal of Medicine

Background

Atrial flutter is a common arrhythmia, and catheter ablation offers a potentially curative intervention. However, there is a continued desire to enhance the procedure’s efficiency and safety to optimize patient outcomes. Recently, local impedance (LI) has garnered attention as a novel approach to optimizing ablation procedures. The parameters of LI change when associated with durable ablation lesions for cavo-tricuspid isthmus (CTI) which remains poorly defined. This study aims to address this gap through analysis of gathered data.

Methods

We conducted a retrospective data analysis of 121 consecutive patients who underwent local impedance-guided catheter ablation of the CTI for typical …

Postoperative Urinary Retention After Hernia Repair: A Randomized Controlled Trial Identifying Patients At Risk And Assessing The Incidence After Tamsulosin Pretreatment, Brandon M. Epps, Evelyn Coile, Margaret Carey, Oliver Whipple, Robert Kelly, Christopher Senkowski, James Garber

HCA Healthcare Journal of Medicine

Introduction

Postoperative urinary retention following hernia repair is a common complication, with its incidence ranging from 2%-30%. Treatment typically consists of a 5-alpha-reductase inhibitor, like tamsulosin. The goal of this study was to identify whether pretreatment with tamsulosin 7 days prior to an elective hernia repair reduced the rate of postoperative urinary retention.

Methods

A single institution randomized controlled trial was conducted with 140 patients. Patients were randomly assigned to either a control or treatment group, with all patients completing a pre- and postoperative International Prostate Symptom Score (IPSS). The inclusion criteria were men with no history of tamsulosin usage …

Faktor-Faktor Yang Berhubungan Dengan Kualitas Hidup Pasien Geriatri Yang Menjalani Hemodialisis, Nurhidayat Mohammad, Czeresna Heriawan Soejono, Aida Lydia, Ikhwan Rinaldi, Muhammad Syafiq, Elizabeth Yasmine Wardoyo

Jurnal Penyakit Dalam Indonesia

Introduction. The decline in quality of life among geriatric patients undergoing hemodialysis has a negative impact on treatment adherence, physical functioning, dietary patterns, and mortality. This study was conducted to assess the quality of life of geriatric hemodialysis patients and its association with comorbidities, functional status, frailty, sarcopenia, nutritional status, depression, hemoglobin levels, hemodialysis vintage, vascular access, and hemodialysis adequacy.

Methods. This study employed a cross-sectional design with primary data collection. Consecutive sampling was used to recruit participants. The study was conducted at the hemodialysis units of Cipto Mangunkusumo National General Hospital (RSCM), Persahabatan National General Hospital (RSP), …

Rekam Medis Elektronik Berbasis Artificial Intelligence: Sudahkan Saatnya Digunakan?, Sukamto Koesnoe

Jurnal Penyakit Dalam Indonesia

No abstract provided.

Korelasi Kadar Serum Vegf-A Dengan Rasio Albumin-Kreatinin Urin Pada Pasien Penyakit Ginjal Diabetik, Hannie Q. Syaiful, Drajad Priyono, Harnavi Harun, Arina W. Murni, Akmal M. Hanif, Eifel Faheri, Arnelis Arnelis, Vesri Yoga

Jurnal Penyakit Dalam Indonesia

Introduction. Diabetic kidney disease (DKD) is a major microvascular complication of diabetes mellitus, characterized by persistent albuminuria and a progressive decline in glomerular filtration rate (GFR), making it a leading cause of chronic kidney disease (CKD) and end-stage renal disease. Vascular endothelial growth factor-A (VEGF-A) is implicated in the pathogenesis of DKD, being overexpressed in the kidneys and contributing to increased vascular permeability, inflammation, and fibrosis. Albuminuria, an early indicator of renal damage in DKD, is a strong predictor of CKD progression and cardiovascular events. The urine albumin-to-creatinine ratio (UACR) is the recommended test for detecting and monitoring albuminuria. …

Kadar Transthyretin Plasma Pada Lanjut Usia Sarkopenia Dan Non-Sarkopenia, R. Ifan A. Fahrurozi, Rose D. Martini, Roza Mulyana, Arina W. Murni, Eva Decroli, Saptino Miro, Deka Viotra, Vesri Yoga

Jurnal Penyakit Dalam Indonesia

Introduction. Sarcopenia is a geriatric syndrome marked by an age-related decline in muscle mass, which is affected by protein intake. Transthyretin is a visceral protein used to evaluate nutritional status and acts as a positive regulator of muscle mass. This study aimed to assess the difference in plasma transthyretin levels between elderly groups with and without sarcopenia.

Methods. This was an analytical observational study with a cross-sectional approach. Subjects were elderly patients who visited the Internal Medicine Polyclinic of Dr. M. Djamil Hospital Padang and met the inclusion and exclusion criteria from August to September 2024. Subjects were …

Optimalisasi Rekam Medis Elektronik Berbasis Artificial Intelligence, Ikhwan Rinaldi, Wahyu Sulistiadi

Jurnal Penyakit Dalam Indonesia

Electronic medical records (EMRs) are essential to modern healthcare systems, yet their implementation continues to face challenges such as disruption of doctor–patient communication, administrative burden, and documentation structures misaligned with clinicians’ clinical reasoning processes. This narrative review aims to assess the limitations of conventional EMRs and examine the potential of artificial intelligence (AI) to improve documentation efficiency, accuracy, and overall clinical performance. The literature indicates that AI technologies, including machine learning, deep learning, and natural language processing, can automate documentation, streamline workflows, enhance decision support, and reduce physician burnout, thereby allowing clinicians to devote more attention to patient care. Nevertheless, …

Faktor Prediktif Post Dialysis Fatigue Sedang Pada Pasien Yang Menjalani Hemodialisis Reguler, Ivan Virnanda Amu, Maruhum Bonar H Marbun, Pringgodigdo Nugroho, Ikhwan Rinaldi, Hamzah Shatri, Nunuk Mardiana, Rudy Hidayat, Endang Susalit, Evy Yunihastuti, Dyah Purnamasari, Elizabeth Y. Wardoyo

Jurnal Penyakit Dalam Indonesia

Introduction. Fatigue is often found in patients with CKD-HD. Fatigue serves as an indicator of mortality and may be a viable target in a treatment strategy. Current research has not established the determinants of moderate PDF in individuals with CKD who are undergoing HD. Therefore, this study was conducted to prove the predictor factors of moderate PDF.

Methods. A retrospective cohort study in CKD-HD patients at Fatmawati Central General Hospital during the period of November-December 2024. The independent variables of this study are comorbidities, MIS, depression, intradialytic SBPV, dialysis vintage, UFG, IDWG, and anemia status. Primary data from …