Medicine and Health Sciences Commons^™

Novel Rpl30 Variant In Diamond Blackfan Anemia Demonstrates Early Impact On Erythroid Differentiation With Downregulated Gata1-Hsp70, Alexandra Prosser-Dombrowski, Irina Pushel, Jacqelyn Nemechek, Priyanka Kumar, Jay L. Vivian, Jennifer Gerton, John M. Perry

Research Days

Background: Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome caused by ribosomal protein gene mutations leading to apoptosis of erythroid progenitors. We identified a novel heterozygous variant (c.167+769C>T) in the noncoding region of RPL30 in a patient diagnosed with DBA.

Objectives/Goal: We hypothesized that this variant stunts erythroid differentiation at the proerythroblast stage and is pathogenic for DBA.

Methods/Design: We developed an induced pluripotent stem cell (iPSC) model with a wild type (WT) and three CRISPR-Cas9 edited RPL30 mutant clones. iPSCs were differentiated into hematopoietic stem cells, which were assessed by flow cytometry and single cell …

Duration Of Labor And Umbilical Artery Acidosis In Critical Congenital Heart Disease, Sarah Gwazdacz Md, Teresa Nguyen Bs, Mary Donofrio Md, Faap, Facc, Fase, Timothy Bennett Md, Amanda Mcintosh Md, Faap, Facc.

Research Days

Standard delivery protocols for most prenatally diagnosed CCHD is induction of labor at 39 weeks with aims of a vaginal delivery (VD) near a tertiary care center. There is no benefit to planned Cesarean delivery (CD) over VD for most infants with CCHD. However, longer durations of labor (DOL) in CCHD have been described as a risk factor for umbilical artery (UA) acidosis. We aim to describe the relationship between DOL and UA pH and neonatal outcomes in those with prenatally diagnosed CCHD.

Retrospective chart review of prenatally diagnosed with CCHD born at Children’s Mercy from 2012 – 2023. Inclusion …

The Impact Of Cultures On Treating Abscesses Associated With Appendicitis, Cory Nonnemacher, Seth Saylors, Meredith Elman, Tolulope A. Oyetunji Md Mph, Shawn D. St Peter

Research Days

Background/Purpose

Perforated appendicitis is associated with elevated risk of post-operative intra-abdominal abscess (PIAA) formation. Small PIAAs can be successfully treated without drainage, while larger ones warrant Interventional Radiology drainage. Routine culture of drained abscesses occurs at most institutions, with some prior studies showing resistance rates of 40-50%, prompting change of post-drainage antibiotics. The purpose of our study is to evaluate if culture results impact the antimicrobial therapy chosen for patients with PIAA, with our hypothesis being that routine culture does not have a significant impact on patient outcomes.

Methods

Patients < 18 years of age who were treated for perforated appendicitis at a standalone tertiary children’s hospital from 2011 to 2024 were retrospectively evaluated for abscess formation and extracted those who underwent drainage procedures with abscess cultures to assess the need for antibiotic adjustments from the standard of care based on culture results.

Results

A total of 1736 patients treated for perforated appendicitis …

Opportunities For Solid Organ Donation In The Neonatal Intensive Care Unit, Sarah Pippin, Jotishna Sharma, Ashley Sherman, Julie Weiner

Research Days

This study aims to characterize the theoretical eligibility of neonates undergoing withdrawal of care in the NICU for donation after circulatory determination of death (DCDD), with a focus on warm ischemic time (WIT) ≤ 90 minutes.

Abusive Head Trauma (Aht) Diagnoses: The Influence Of Clinical Presentation And Evidence Of Impact, Ruairi Smith-Dewey, Angela N. Bachim, Colleen Bressler, Kristine Campbell, Lori Frasier, Christopher Greeley, Danielle Horton, Nicole Johnson, Jan Leonard, Megan Letson, Daniel M. Lindberg, Caitlin Mcnamara, Shalon Nienow, Ashley K. Sherman, Joanne Wood, James Anderst

Research Days

Background: In cases where Child Abuse Pediatricians (CAPs) diagnose abusive head trauma (AHT) in young children, some factors surrounding the diagnosis have been challenged including causative shaking, necessity of external signs of impact, or concomitant suspicious injuries. Evaluation of CAP diagnoses in children with subdural hemorrhage (SDH) can give insight into factors related to the frequency of abusive head trauma (AHT) diagnoses. Additionally, characterization of those with SDH+CSI without evidence of impact may inform controversies around AHT diagnoses.

Objectives/Goal: We aim to compare CAP diagnoses in subjects with SDH across clinical presentations and in the context of evidence of head …

In Search Of The Unknown Mimic Of Abusive Head Trauma., Ruairi Smith-Dewey, Angela N. Bachim, Colleen Bressler, Kristine Campbell, Lori Frasier, Danielle Horton, Nicole Johnson, Jan Leonard, Megan Letson, Caitlin Mcnamara, Shalon Nienow, Ashley K. Sherman, Stuart Sommers, Joanne Wood, James Anderst

Research Days

Background:

Some claim that Child Abuse Pediatricians (CAPs) are misdiagnosing a yet-to-be-identified mimic as abusive head trauma (AHT), particularly in ill children with isolated subdural hemorrhage (SDH). Though not diagnostic criteria, specific social stressors have been identified as AHT risk factors. If a yet-to-be-identified mimic is meaningfully present within a group being evaluated for AHT, that group should have fewer AHT risk factors than children with actual AHT. The existence of such a mimic can be assessed by comparing the prevalence of AHT risk factors across groups: CAP-identified mimics, non-ill SDH only, ill SDH only, and SDH plus concomitant suspicious …

Engineering A Novel Treg Population To Control Autoimmune Diabetes, Sofia Colon Guzman, Elly Puckett, Mary A. Markiewicz, Ryan T. Fischer

Research Days

We created a model to test the immunosuppressive capacity of Helios+FOXP3+ eTregs compared to nTregs against islet-specific autoreactive T cells. We also showed that nTregs decrease the response of these cytotoxic T cells when co-cultured with BetaLox5 cells.

Growth Hormone Deficiency In Childhood Cancer Survivors: Response To Growth Hormone Therapy And Aromatase Inhibitors Compared To Growth Hormone Therapy Alone., Haya Azouz, Sarah Tsai, Keith August, Jennifer W. Boyd

Research Days

With evolving technologies leading to better cancer cure rate, the number of childhood cancer survivors has increased. There has been increasing reports of later endocrine effects including growth hormone deficiency (GHD). Our aim is to investigate the influence of adding aromatase inhibitors (AI) to growth hormone (GH) therapy in childhood cancer survivors with growth hormone deficiency (GHD). A retrospective chart review was performed looking at children between ages 0 and 18 years with history of malignancy and subsequent diagnosis of GHD at our institution. Fifty-nine children were included in this study. Participants were classified into 3 groups: (1) the target …

Improving Adherence To Evidence Based Sti Care For Patients Who Tested Positive At Ed Index Visit Qi Project, Noelle Tran, Melissa Miller, Kim Barbee, Julie Jost, Christopher Kaberline, M Smith

Research Days

Problem Statement/Question:

Previous work improved clinician sexually transmitted infection (STI) testing behaviors, but overlooked treatment interventions needed to facilitate risk reduction, HIV and syphilis (RPR) testing, and STI retesting at three months—critical components that reduce morbidity and disease spread. We are not adhering to evidence-based STI care for adolescents who tested positive for STIs at the ED index visit.

Background/Project Intent (Aim Statement):

According to the Centers for Disease Control and Prevention (CDC), in 2023, over 2.4 million cases of RPR, gonorrhea (GC), and chlamydia (CT) were diagnosed; about half of reported cases were among adolescents and young adults aged …

Characterizing Attendance At Faculty Education Sessions From A Diversity, Equity, & Inclusion Perspective, Mauro D. Rodriguez, Do, Kimberly A. Randell, Md, Msc, Emilie Keeton, Msod, Myles Chandler, Ms, Ashley K. . Sherman, Ma, Jacqueline Hill, Phd, Mph, Frances Turcotte Benedict, Md, Mph

Research Days

The impact of Diversity, Equity, and Inclusion (DEI) education for faculty is largely unknown. This retrospective analysis tracked CMH faculty participation over three years to determine attendance by gender, race/ethnicity, academic rank, and department at DEI and non-DEI education sessions. Ultimately, further studies are needed to understand participation barriers to DEI education.

Food Insecurity In Adolescent Athletes, Andrew Donaldson, Shannon Margherio, Jay Roberson, Kevin Latz

Research Days

Background: The prevalence of food insecurity among children in the United States is estimated at 21%. Food insecurity during childhood leads to worse school performance, more emotional and behavioral health concerns, and increased suicide attempts. Further, food insecurity has been noted to have multiple deleterious effects on the collegiate student athlete, including lower GPA, disordered eating, and substance use.

Hypothesis: Food insecurity is prevalent in the adolescent athlete population and exists across demographics.

Methods: Voluntary surveys were distributed to parents at all sports medicine clinics at our institution. Demographic data was collected including athlete age, race, school and school district, …

Shilla Growth Guidance System (Sggs) Instrumentation With Pelvic Foundation (Sggs) For Severe Neuromuscular Spine Deformity. Does It Work?, Hannah Geoffroy, Richard Schwend

Research Days

This study evaluates the use of the Shilla Growth Guidance System (SGGS) with a pelvic foundation for treating severe neuromuscular scoliosis in young children. The primary outcomes include revision surgery and complication rates. In a 21-patient cohort (mean age 5.3 years, follow-up 10 years), 57% required only one surgery, while 43% needed revisions. The complication rate was 38%, with a 29% deep infection rate. The procedure improved spinal alignment and growth but carried significant risks. SGGS with pelvic fixation may reduce the need for repeated surgeries in this complex patient population.

Identifying Prior Concerning Injuries In Children With Abusive Fractures, Noelle Tran, Maria Antonucci, Angela Bachim, Colleen Bressler, Kristine Campbell, Nara Cho, Kristin Crichton, Lori Frasier, Nancy Harper, Sara Kilbride, Natalie Laub, Jan Leonard, Daniel Lindberg, Ashley Sherman, Joanne Wood, James Anderst

Research Days

Background-

Existing data characterizes the relationship between prior concerning injuries (PCI) in infants preceding abusive head trauma (AHT). Little data exists on the relationship between PCI and other abusive injuries, in particular fractures. As AHT and abusive fractures differ in epidemiology and inciting events, it is possible that the frequency, type, and age of occurrence of PCI preceding abusive fractures may differ.

Objectives/Goals-

We aim to compare the frequency and number of PCI known to a Child Abuse Pediatrician (CAP) at the time of evaluation between children with abusive and non-abusive fractures.

Methods/Design-

This was a retrospective, case-control study using …

Effect Of Response Bias On Threshold Estimates In Confounded N-Alternative Optional Choice Experiments, James J. Blaha, Benjamin T. Backus, Thaddeus B. Czuba

MODVIS Workshop

Three modifications of the familiar 2-AFC task can be useful when collecting data to estimate sensory thresholds from unpracticed participants: (1) Make responding optional, which relieves the participant from having to guess when they are uncertain; (2) Provide N>2 alternatives, which reduces the number of trials to estimate threshold; and (3) Confound the alternatives with an independent variable, for example by having participants choose visual field locations as alternatives when measuring threshold separately at each visual field location, which reduces the number of trials through multiplexing. The N-alternative optional-choice experiment (N-AOC) and its confounded variant have not been studied …

Investigating How Social Support Impacts The Use Of Primary Healthcare Services For Women Undergoing Treatment For Opioid Use Disorder, Sydney Macon, Vanessa Short, Phd, Mph

Health Equity and Quality Improvement (HEQI) Summit

Background

Individuals with substance use disorders often face challenges in accessing and utilizing primary care, exacerbated by a lack of social support. Understanding the intricate dynamics between social support and primary care utilization is crucial for enhancing healthcare delivery, especially among vulnerable populations such as women undergoing substance use disorder treatment. There is a lack of research regarding this connection and our research aims to change that. We want to explore how social support influences the use of regular healthcare, particularly for women facing substance use challenges. By doing this research, we hope it will lead to future discoveries of …

Improving Guideline-Based Prep Management In A Philadelphia-Based Academic Family Medicine Office, Brittany Macdonald, Md, Marshall Miller, Md, Nwando Ekezie, Md, Maia Mandel, Md, Christina Boras, Md, Eunice Choe, Md, Meghan Swyryn, Md, Meg Broderick, Md, Pascaline Karanja, Md, Julia Beatini, Md, Julie Jones

Health Equity and Quality Improvement (HEQI) Summit

Background

Pre-Exposure Prophylaxis (PrEP) significantly reduces the risk of contracting HIV:

• Reduces risk from sexual contact by 99%
• Reduces risk from injection drug use by at least 74%

Despite its effectiveness, PrEP is underutilized in the USA.

• In 2019, an estimated 224,000 Americans received a prescription for PrEP despite 1.1 million people having indications for PrEP.
• Lack of provider knowledge surrounding PrEP clinical guidelines is a common reason for underutilization.

Screening And Diagnosis Of Gestational Diabetes, And Perinatal Outcomes In Patients With Bariatric Surgery History, Silpa Annavarapu, Bs, Charlette Williams, Md, Rodney Mclaren, Jr., Md, Sarah Boudova, Md, Phd

Health Equity and Quality Improvement (HEQI) Summit

Background

- ~1 in 5 women of reproductive age are obese, with bariatric surgery increasing in popularity as an intervention

- Gestational diabetes mellitus (GDM) is associated with shoulder dystocia, polyhydramnios, weight >4500g, hypoglycemia, hyperbilirubinemia, NICU admission, respiratory distress, cesarean delivery, gestational hypertension (HTN), and Preeclampsia

- Adverse outcomes of GDM can be mitigated with early diagnosis and blood glucose management

- The glucose tolerance test (GTT) is the current gold standard for diagnosing gestational diabetes (GDM)

• Individuals with a history of bariatric surgery may not tolerate the sugar load or volume of the GTT
• The GTT may not accurately …

From Oversight To Insight: Enhancing Vte Prophylaxis Through System-Level Improvements, Nehar Damle, Jessica Cobb, Jordan Feingold, Yunisse Gonzalez, Lamya Jaigirdar, Sheraz Qamar, Claire Ketchem

Health Equity and Quality Improvement (HEQI) Summit

Background

- Hospitalized patients – particularly those with prior venous thromboembolism (VTE), reduced mobility, severe sepsis, and operative procedures - are at significantly elevated risk for recurrent VTE events^1-4

- Although clinical evidence supports use of pharmacologic VTE prophylaxis in highrisk patients, gaps in delivery remain common (highlighted below):

• Miscommunication between managing teams
• Unclear documentation
• Lack of standardized peri-procedural protocols
• Challenges in care coordination

- Missed or delayed VTE prophylaxis represents a frequent and preventable threat to inpatient safety

- We present a near miss event involving a hospitalized patient with severe sepsis and history of pulmonary embolism within …

Utility Of Community Partnership And Sustainable Street Outreach, Daniel Lee, Hannah Klinghoffer, Mallika Kodavatiganti, Luke Benedict, Kelsey Van Housen, Ashley Wetzel, Lele Yang, Alisha Agarwal, Shane Nieves, Charlotte Harris, Jessica Lely, Vinh Dang, Ivel Morales, Md

Health Equity and Quality Improvement (HEQI) Summit

Background

• 14,088 individuals experience homelessness (IEH) across the state of Pennsylvania, with over 50% concentrated in Pittsburgh and Philadelphia¹
• In late 2021, only 4 medical school programs existed that conducted street outreach to support individuals experiencing homelessness in Pennsylvania before the pandemic.² None existed at the undergraduate level.
• Street outreach has been linked to increased motivation of IEH to seek services by removing stigma via positive, nonjudgmental relationships.^3,4

Enhancing Patient Education Of Antimicrobial Side Effects At Discharge, Isaac Daudelin, Md, Phd, Bojan Lazarevic, Jordan Feingold-Link, Md, Nehar Damle, Md, Pharmd, Caroline Brugger, Crnp, Rachel Carr, Pa-C, Devin Weber, Md, Daniel Taupin, Md, Mhqs

Health Equity and Quality Improvement (HEQI) Summit

Background

Problem: Patients discharged from the hospital on antimicrobial agents often receive insufficient education about potential side effects that warrant medical attention(1). We identified a critical gap in patient communication and safety that occurred during discharge at a large urban academic center.

Stakeholders

• Patients
• Physicians
• Nurses
• Pharmacists
• Outpatient providers
• Nurse practitioners
• Physician assistants

Objective: This project aimed to utilize a multidisciplinary team to:

1. Quantify a gap in patient education
2. Create an interactive navigator- which would not rely on provider memory and automatically include relevant information in patient discharge paperwork
3. Implement within 3 months into the EPIC system
4. Measure the effect …

Identifying Unnecessary And Excessive Use Of Intravenous Heparin For The Treatment Of Intermediate-Risk Pulmonary Embolism, Youssef Elfatatry, Ryan Gardner, Chukwuemezie Kamanu, Ruben Rhoades

Health Equity and Quality Improvement (HEQI) Summit

Problem Statement

- Intermediate-risk pulmonary embolism (PE) is a diagnosis with heterogenous presentations and mortality rates ranging from 2% to 15%.

- European Society of Cardiology (ESC) guidelines recommend low-molecular weight heparin (LMWH) as first line therapy in most patients. Despite this, the use of IV heparin in intermediate-risk PE remains widespread, due to uncertainty regarding patients receiving further procedures and mitigation of bleeding risk.

Project AIM:

- We aim to (1) identify prescribing patterns and outcomes of anticoagulant therapy on admission, and (2) propose and implement a "PE Care Pathway" in EPIC to address uncertainty in risk-stratifying and treating …

Post-Operative Management Of Chronic Subdural Hematomas, Steven R. Glener, Md

Health Equity and Quality Improvement (HEQI) Summit

Primary Objective & Outcome Measures

Objective: Identify standard of care for post-operative subacute to chronic subdural hematomas (cSDH) that undergo burr hole evacuation

Primary outcomes:

• Rate of SDH recurrence requiring re-evacuation or MMA embolization

Secondary outcomes:

• LOS
• Readmission for a medical problem related to chronic subdural evacuation

Future Of Transplant Centers: Leveraging Integration Of Transplant Institutes To Mitigate The Impact Of Transplant Professional Shortages And Enhance Patient Outcomes, Kiran Goli, Prashamsa Shenoy, Paula Martinez-Cantarin, Maitreyee Gupta, Rakesh Gulati, Pooja Singh

Health Equity and Quality Improvement (HEQI) Summit

Background

The Increasing Organ Transplant Access (IOTA) Model introduced by the Centers for Medicare & Medicaid Services (CMS) emphasizes increasing transplant volumes, reducing disparities, and enhancing care efficiency. Transplant centers face unique challenges, including workforce shortages, growing demand for organ transplants, care delivery inefficiencies, and the need to align with the achievement, efficiency, and quality domains of the IOTA model while fostering health equity. Integration, whether through mergers, acquisitions, or strategic alliances, offers transplant centers a competitive advantage in optimizing resources, expanding access, and meeting CMS metrics.

Bacterial Contamination Of Multiple Platelet Units At A University Hospital-Affiliated Blood Donation Center In Philadelphia, Pa: A Quality Improvement Project, Alissa F. Schurr, Do, Violet Quann, Do, Aaron S. Gomez, Md, Alberto Martinez Mencia, Juliana Guarente, Md, Allison F Goldberg, Md

Health Equity and Quality Improvement (HEQI) Summit

Background

• Our facility collects 1-2 platelets per month from donors via apheresis.
• Bacterial risk mitigation for our facility is performed by large-volume delayed sampling (LVDS).

Visiting Medical Student Stipends In The Us | An Analysis Of Equity Within Physiatry, Ashley Otto, Do, Mbs, Jeffrey Gray, Md, Summer Nestorowicz, Md, Adrian Oppong, Md, Ms, Oluseye Raymond, Md, Andrew Walrond, Md, Alexis Tingan, Md, Marisa Moreta, Do

Health Equity and Quality Improvement (HEQI) Summit

Introduction & Aims

Health inequities are ubiquitous throughout medicine especially pertaining to accessibility, affordability, and availability. These challenges disproportionately affect minorities- both patients and providers alike [3,4]. Patient outcomes have been shown to improve when treated by physicians of similar backgrounds [3,4,7]. The journey to improve outcomes begins with pre-residency rotations; medical students who can complete audition rotations have an increased opportunity to matriculate into said residency program. Physical Medicine & Rehabilitation (PM&R), like many specialties, is disproportionately represented by men and Caucasians [1,5, 8] with the greatest drop in URM representation occurring between applicants and residents [Escalon]. This project …

The Effect Of Targeted Outreach To Improve Cpap Adherence In Patients With Socioeconomic Disparities, Henry Ideker, Md, Ethan Zheng, Ba, Stephen White, Md, Ritu Grewal, Md

Health Equity and Quality Improvement (HEQI) Summit

Introduction

• Continuous positive airway pressure (CPAP) is first line treatment for obstructive sleep apnea (OSA) in adults given its high efficacy; however, it is limited by poor patient compliance
• Socioeconomic disparities are known to be associated with significantly worse health outcomes and adherence to therapy¹
• Area deprivation index (ADI) is a validated tool that highlights populations with high socioeconomic disparities on a neighborhood level.² Prior research in our department in 2022 demonstrated significantly worse CPAP adherence in OSA patients with higher ADI scores.³
• Initial CPAP use has been shown to predict long-term adherence, and strategies to maximize …

A Multidisciplinary Intervention To Improve Acute Respiratory Distress Syndrome (Ards) Recognition In The Intensive Care Unit, Julia G. Katcher, M. Schaffer, Bridget Gekas, Jeffrey Riggio, Erika J. Yoo, Michael Baram

Health Equity and Quality Improvement (HEQI) Summit

Background

• ARDS is underrecognized, undertreated, and associated with a high mortality rate.¹
• Previous chart review in 2017 of 137 Jefferson MICU patients with acute respiratory failure revealed poor adherence to ARDS recommendations and protocols within first 24 hours.
• Respiratory therapist-driven protocols have been shown to increase adherence to lung-protective ventilation.²
• Frequent evaluation of ventilat0r settings and patient response is a cornerstone of early ARDS management.³

Reducing Overnight Interruptions For Nonurgent Electrolyte Repletion, M. Duncan Kilpatrick, Md, Trishya Srinivasan, Md, Bertilia Tavarez, Md, Tatianna Branch, Do, Edwin Perez, Md, Zachary Pang, Md, Ryan Gardner, Md, Daniel Taupin, Md

Health Equity and Quality Improvement (HEQI) Summit

Background

• Overnight patient interventions, including electrolyte repletion, contribute to hospital acquired delirium.¹
• Among patients admitted to TJUH, we identified many cases of IV magnesium (Mg) repletion given overnight, waking up patients when urgent repletion may not be clinically necessary.
• This may be driven by resident belief that IV Mg increases serum Mg more effectively than PO Mg
• TJUH has implemented the Electrolyte Hub in EPIC which standardizes the dosing and ordering of electrolytes in most cases.
• However, the default in most non urgent cases is to administer the first dose of electrolyte now, whether it is PO or IV. …

Improving Deep Vein Thrombosis Rates In Spine Surgery Patients, Arbaz A. Momin, Md, James Harrop, Md

Health Equity and Quality Improvement (HEQI) Summit

Background

- DVT/PEs are sources of morbidity and mortality in hospitalized patients
- Spine surgery patients are immobile postop and tend to be obese
- For spine surgery patients DVT rates reported to range from 0.3% to 15.5%
- DVT propagation to PE can lead to significant mortality

• 30-day case fatality rate of PE is 3.9%

- Quality metric that hospitals are evaluated

• Patient safety indicator (PSI)

By The Book: A Look At Whether Guidelines Impact Clinical Decision Making In Sglt2i Prescriptions, Marc Mounzer, Vacha Shah, Antony Fuleihan, Brian Osler

Health Equity and Quality Improvement (HEQI) Summit

Introduction

• Specialty-specific guidelines reduce medical errors and support clinical decision- making
• Effective implementation requires timeliness and accuracy, often limited by systemic barriers
• This study investigates factors affecting sodium glucose cotransporter 2 inhibitor (SGLT2i) prescribing in heart failure to enhance guideline adherence and care quality