Diseases Commons^™

Identification Of Surrogate Biomarkers For Mucopolysaccharidosis Type Iva, Yasuhiko Ago, Shaukat Khan, Kimberly Klipner, Allison Bradford, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis type IVA (MPS IVA, Morquio A syndrome) is a rare inherited disorder characterized by skeletal dysplasia due to deficient N-acetylgalactosamine-6-sulfate sulfatase activity, resulting in glycosaminoglycan (GAG) accumulation. Identifying accurate biomarkers reflecting clinical severity and therapeutic response remains challenging. This study evaluated potential surrogate biomarkers, including N-terminal pro-C-type natriuretic peptide (NT-proCNP), collagen types I and II, mono-sulfated keratan sulfate (KS), di-sulfated KS, and chondroitin-6-sulfate (C6S), in blood and urine samples from 60 patients ranging from 1 to 62 years of age. NT-proCNP levels were significantly elevated in patients of all ages and negatively correlated with growth impairment, especially after 8 …

Reducing Surgery For Pediatric Posttonsillectomy Hemorrhage Using Tranexamic Acid: A Quality Improvement Initiative, Laura A. Petrauskas, Janavi Sethurathnam, Ansley J. Kunnath, Rahul K. Sharma, John Ceremsak, Ryan H. Belcher, James D. Phillips, Jay A. Werkhaven, Amy S. Whigham, Lyndy J. Wilcox, Christopher T. Wootten, Frank W. Virgin, Jason S. Park

School of Medicine Faculty Publications

Objective: Evaluate the use of tranexamic acid (TXA) and observation as a management option for pediatric patients presenting with posttonsillectomy hemorrhage (PTH). Study Design: Retrospective analysis of a prospectively implemented quality improvement initiative with a historical control comparison group. Setting: Tertiary children's hospital. Methods: Patients < 18 years of age who underwent adenotonsillectomy (AT) and returned to the Emergency Department for PTH were included. Patients who were stable without large volume or active bleeding were given intravenous TXA and admitted for overnight observation. Data were compared in a before-and-after analysis: preprotocol (April 2022 to March 2023) versus postprotocol (April 2023 to March 2024). For cost-effectiveness analysis, we analyzed aggregated claims data from a commercial claims database. Results: Preprotocol 1800 adenotonsillectomies were performed, and 40 procedures were performed for control of hemorrhage (2.2 per 100 AT). Postprotocol 2356 adenotonsillectomies were performed, and 30 procedures were performed to control hemorrhage (1.3 per 100 AT) showing a significant reduction in return to the operating room (relative risk [RR] = 0.59, 95% confidence interval [CI] [0.358, 0.916], P-value.020). There were no reported adverse events attributable to TXA. An estimated 21 surgeries were avoided, and 26 additional patients were observed in the hospital during the postprotocol period, for an estimated net cost savings of $174,970. Conclusion: The implementation of a standardized TXA protocol significantly reduced the need for return to the operating room for PTH in pediatric patients, without complications and with net cost savings to the health care system.

Rethinking Congenital Cytomegalovirus: A Narrative Review Of The Clinical, Public Health, And Ethical Challenges Of A Preventable Cause Of Childhood Hearing Loss, M. Peyton Simons, Gauri Mankekar

School of Medicine Faculty Publications

Congenital cytomegalovirus (cCMV) is the most common non-genetic cause of pediatric sensorineural hearing loss, affecting approximately tens of thousands of infants annually in the United States. While cCMV may present symptomatically at birth, many infants are asymptomatic initially and later develop progressive or fluctuating hearing loss, which is often undiagnosed without early screening. Despite advances in diagnostic methods such as polymerase chain reaction (PCR) testing, the absence of a national screening policy in the U.S. results in significant variability in early detection and follow-up care. This narrative review provides an overview of the clinical manifestations, diagnostic strategies, and treatment options …

Exploring Anticoagulation Trends As Early Infection Markers In Pediatric Ecmo And Crrt Patients, Samantha Davidson, Jay Rilinger, Jenna Miller, Caroline Holton, Joshua Herigon, Brian Lee

Research Days

This retrospective cohort study at a tertiary pediatric hospital included ICU patients who developed infections after 72 hours on extracorporeal support from 2017-2023. We assessed whether the number of anticoagulation dose changes are linked to acquired infections.

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.

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.

Assessments Of Social Vulnerability On Laryngeal Cancer Treatment & Prognosis In The Us: Epidemiology, David J. Fei-Zhang, Camaren M. Cuenca, Angela D. Haskins, Andrew P. Stein, David G. Lott, Urjeet A. Patel, Stephanie S. Smith, Amy L. Dimachkieh, Nosayaba Osazuwa-Peters, Jill N. D’Souza, Anthony M. Sheyn, Jeffrey C. Rastatter, Daniel C. Chelius

School of Medicine Faculty Publications

Background: Previous social determinants of health (SDoH) studies on laryngeal cancer (LC) have assessed individual factors of socioeconomic status and race/ethnicity but seldom investigate a wider breadth of SDoH-factors for their effects in the real-world. This study aims to delineate how a wider array of SDoH-vulnerabilities interactively associates with LC-disparities. Methods: This retrospective cohort study assessed 74,495 LC-patients between 1975 and 2017 from the Surveillance-Epidemiology-End Results (SEER) database using the Social Vulnerability Index (SVI) from the CDC, total SDoH-vulnerability from 15 SDoH variables across specific vulnerabilities of socioeconomic status, minority-language status, household composition, and infrastructure/housing and transportation, which were measured …

Q Fever Pericardial And Pleural Effusions In A Pediatric Patient, Jonathan Ermer, Ben Kazdan, Cooper Bassham, Jacqueline Walker

Research Days

Background: Q fever is a bacterial infection caused by Coxiella burnetii. Q fever commonly presents with flu-like symptoms (fever, chills, fatigue, myalgias) in patients about 2-3 weeks after exposure to farm animals. Less commonly, Q fever can cause severe illness such as myocarditis, pericarditis, or meningitis. We present a rare case of a pediatric patient with pericardial and pleural effusions secondary to Q fever.

Case presentation: History of present illness: The patient is a 9-year-old female who presented as a referral from an outside hospital due to chest pain, shortness of breath, and 2 weeks of fever. The patient started …

Characteristics Of Pediatric Patients With Sports-Related Concussions: A Single Site Retrospective Review, Jose A. Cruz Ayala, Shahrukh Khan, Holly Monk, Emma Cole, Alison Smith, Scott Schultz, Lindsay Elliott, Jessica Zagory

School of Medicine Faculty Publications

PURPOSE: Sports-related concussion (SRC) cases have increased among children in the last decade. Differences in concussion symptoms, presentation, and follow-up care exist when comparing demographics. The aim of this study was to explore SRC within the pediatric population. METHODS: A retrospective chart review of patients ≤ 18 years old diagnosed with SRC at a New Orleans stand-alone children's hospital from January 2007 to December 2021 was performed. T-test and Fisher's exact test were used for relationship between outcomes and sports, demographics, setting, insurance, and follow-up care. RESULTS: Children who sustained SRC at practice were more likely to be male (p …

Variables Affecting Neurodevelopmental Outcome In Infants With Critical Congenital Heart Disease, Elizabeth Loughman, Julie Weiner Do, Marcie Files Md

Research Days

Background: The mortality of cardiac conditions in infancy is improving with advances in surgical planning and medical management. Neurologic morbidity remains significant. Clinically correlating an infant with their neurologic exam, MRI/EEG, and subsequent developmental testing remains a challenge. Counseling regarding neurologic outcomes after cardiac intervention is difficult due to the wide range of findings that can sometimes be clinically irrelevant.

Purpose: The goal of this study is to identify factors associated with poor neurodevelopmental outcomes in infants with critical congenital heart defects (CCHD) as assessed by the Bayley Scales of Infant and Toddler Development Edition IV (Bayley).

Methods: This is …

Implementation Of A Weaning Protocol For Inhaled Nitric Oxide In A Level Iv Neonatal Intensive Care Unit, Elizabeth Loughman, Julie Weiner Do, Maryam El Tawil, Chris Nitkin Md

Research Days

Background: Decrease time to begin iNO weaning from 13 hours to 9.75 hours by 31 December 2024 in patients with persistent pulmonary hypertension of the newborn (PPHN).

Methods: Countermeasures include (1) provider education at each disciplinary level, (2) badge reminder cards and laminated copies of the protocol available at the bedside, (3) order set modifications, (4) abnormality tracking at huddles. Data collection will be automated through weekly Business Objects report. The main outcome measure will be time to first wean of iNO after meeting protocol criteria. Feedback regarding the ease of weaning will be generated via Gemba Rounds.

Results: These …

Physiologically Based And Population Pharmacokinetic Modeling Of Midazolam In Children With Obesity Using Real-World Data, Sean Mccann, Victória E. Helfer, Stephen J. Balevic, William J. Muller, John N. Van Den Anker, Amira Al-Uzri, Marisa L. Meyer, Sarah G. Anderson, Sitora Turdalieva, Andrea N. Edginton, Daniel Gonzalez, Best Pharmaceuticals For Children Act Pediatric Trials Network Steering Committee

Department of Pediatrics Faculty Papers

Children represent a highly complex and variable population for treatment, including interindividual differences in drug dose-exposure. Midazolam has been used as a sedative for hospitalized children on- and off-label; however, factors affecting interindividual variability (IIV) in observed clearance for this population are not fully understood and can result in extreme under- or overexposure. Obesity has been described as a significant influence on midazolam in adolescents, which could potentially alter drug exposure. The goal of this study was to use two modeling strategies to evaluate dose-exposure of midazolam in children with and without obesity. Population pharmacokinetic modeling assessed whether measures of …

A Systematic Review Of Neutrophilic Alopecias Of The Scalp In The Pediatric Population, Nesreen Shahrour, Layan Shahrour, Rahib K. Islam, Yoseph Dalia

School of Medicine Faculty Publications

Neutrophilic alopecias of the scalp - including dissecting cellulitis of the scalp, folliculitis decalvans, and Acne Keloidalis Nuchae - are rare, scarring, inflammatory disorders with overlapping clinical and histopathologic features that present unique diagnostic and therapeutic challenges in pediatric populations. This systematic review synthesizes findings from 35 eligible studies identified through a search of Medical Literature Analysis and Retrieval System Online, Excerpta Medica Database, Central Cochrane Medical Database, Cumulative Index to Nursing and Allied Health Literature, and Web of Science, focusing on treatment modalities and outcomes in children. Patients with dissecting cellulitis of the scalp often present with erythematous, tender …

Reduced Vns Settings Paradoxically Decreases Seizure Burden In A Patient Following Resolution Of Sleep Disordered Breathing, Austin Sponaugle, Rebecca Stainman, Christopher M. Carosella

Abington Jefferson Health Papers

Vagus nerve stimulation (VNS) can be a highly effective treatment option for patients with drug resistant epilepsy. Notably, VNS has demonstrated side effects including a unique form of sleep disordered breathing known as vagus nerve stimulator associated sleep disordered breathing (VaS). However, the ways in which VaS interacts with seizure frequency is unknown. We report a case of a 28-year-old woman who presented to our department with complaints of worsening sleep quality 3 years following VNS implantation. Upon polysomnographic (PSG) evaluation, it was discovered that she suffered from VaS. The patient’s VNS output current was then down titrated during a …

Smoking Cessation Education In Caregivers Of Pediatric Patients Hospitalized With Asthma Exacerbation, Maya Emptage, Kaitlynn Lineberry, Suzanne Kayali, Bobby Bellflower Dnsc, Nnp-Bc, Faanp, Michelle Rickard Dnp, Pnpac-Bc

Doctor of Nursing Practice Projects

Purpose/Background

Pediatric asthma is rising globally, currently affecting over 300 million individuals and projected to reach 400 million by 2025. This scoping review aims to summarize existing evidence on the impact of providing smoking education to caregivers during hospitalization on reducing pediatric asthma exacerbations, with the goal of encouraging further research.

Methods

The search spanned from August 2022 to November 2024, following the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines. Inclusion criteria focused on studies involving human participants and caregivers of children receiving smoking cessation education in relation to asthma exacerbation and hospital admission. Databases searched included …

Maternal Responsiveness To Infant Hunger Cues: Is It Possible To Mitigate Risk Of Obesity Starting In Infancy?, Arrianna A. Powers

Rowan-Virtua Research Day

Background: Childhood obesity is becoming a predominant health concern with over 37 million children under the age of 5 being overweight. Instances of rapid weight gain in infancy correlate to greater risk for obesity later on in life.

Methods: This study aimed to look at feeding modality and style for their impact on maternal responsiveness to infant hunger cues and RWG. A database search identified 21 studies eligible to be included in the review out of 150.

Discussion: Key findings showed breast-feeding mothers were most responsive to hunger cues, breastfed infants expressed greater cues than their formula-fed peers, and responsive …

Is The Vaping Epidemic Linked To Neurologic Changes And Mental Health Diagnoses Amongst Us Adolescents?, Tracy Lin, Victoria Shwe

Rowan-Virtua Research Day

Vaping has significantly increased among U.S. adolescents, driven by the rise of e-cigarettes and flavored pods. Nicotine exposure during brain development is linked to changes in the limbic-dopaminergic system, white matter integrity, and increased risk of emotional and behavioral dysregulation. Higher rates of depression, anxiety, and suicidality are reported among adolescent users, with greater symptom severity seen in those with high vaping dependence. Though studies show correlation rather than causation, findings suggest vaping may contribute to rising mental health diagnoses. Addressing vaping’s neurological and psychological impact is critical to guiding prevention efforts, regulatory policies, and support for at-risk youth.

Adherence To Follow-Up Among High-Risk Nicu Patients, Iryna Muryn, Susan Mbullah Ndimah, Lisa Renee Eiland, Tara Lozy

Rowan-Virtua Research Day

Background:

Preterm infants, especially those ≤32 weeks' gestational age (GA) are at increased risk of vision and hearing loss. Risks of both vision and hearing loss can be ameliorated and in some cases prevented by conscientious screening, follow up and treatment. Universally, infants ≤32 weeks are cared for in neonatal intensive care units and there is considerable confidence that screenings and treatment occur according to established guidelines. At hospital discharge, follow up responsibility shifts to infant caretakers likely resulting in reduced compliance.

Objective:

We aimed to determine if preterm infants at risk for vision and hearing loss, attended follow up …

A Broad Examination Of Sleep Issues In Pediatric Multiple Sclerosis And Other Conditions, Chaithanya Annaluru

Rowan-Virtua Research Day

Background: Poor sleep hygiene can lead to serious health consequences, including the development of health disorders and the worsening of chronic illnesses. Poor sleep quality or duration has been linked to neurocognitive changes such as inattention and lower IQ scores. Sleep disorders are especially prevalent among pediatric patients with neurologic and neuropsychiatric conditions; for example, children with epilepsy and ADHD exhibit higher rates of parasomnias, while patients with multiple sclerosis (MS) experience REM sleep behavior disorder and insomnia more often than the general population. Additionally, co-existing obstructive sleep apnea (OSA) and epilepsy can worsen seizure control, and uncontrolled epilepsy can …

Does Sports-Specialization Increase The Risk Of Injury In Youth Athletes?, Kinjal Shah

Rowan-Virtua Research Day

Sports specialization, defined as intensive, year-round training in a single sport for more than eight months per year, has become increasingly prevalent among youth athletes. While it is often pursued with the goal of elite performance, early specialization may increase the risk of both physical injuries and psychological strain. This risk is especially pronounced in individual sports such as swimming and tennis, where early and focused training is frequently encouraged. This study explores the association between early sports specialization and injury risk in young athletes, with the goal of identifying contributing factors and informing prevention strategies. Evidence suggests that while …

How Does Exposure To Early-Life Stressors Shape Eating Behaviors In Adulthood?, Surabhi Panda

Rowan-Virtua Research Day

The objective of this literature review is to explore the relationship between early-life stress and the development of disordered or dysregulated eating in adulthood. A search was conducted across PubMed, CINAHL, Embase, and PsycINFO databases. Results from each study were compared and synthesized. Twelve studies were analyzed including case reports, systematic reviews, cohort studies, and cross-sectional studies. Research indicates that childhood emotional abuse, often more prevalent than other forms of maltreatment, is a significant risk factor for eating pathology, with studies investigating psychological mediators such as anger, anxiety, and dissociation in this relationship. Adverse Childhood Experiences (ACEs) and early life …

Children Born To Mothers With Inflammatory Bowel Disease: A Review Of Pediatric Outcomes, Simran Gandhi, Kush Patel, Harmann Singh

Rowan-Virtua Research Day

Background: Inflammatory Bowel Disease (IBD), comprising Crohn’s disease and ulcerative colitis, frequently affects women during their reproductive years. While the impact of IBD on pregnancy has been widely studied, less is known about the long-term health outcomes in children born to affected mothers, particularly in the context of in utero exposure to immunosuppressive therapies.

Hypothesis: We hypothesize that children born to mothers with well-managed IBD experience normal growth and development, with minimal risk for immune-related complications, despite potential exposure to biologics and other IBD medications during gestation.

Methods: A literature review was conducted using PubMed and Google Scholar. Search terms …

Side Effect Profiles In Immunotherapy Vs Chemotherapy In The Treatment Of Pediatric Acute Lymphoblastic Leukemia, Chloe Triolo, Mariana Sales, Amy Nguyen, Jaclyn Schultz, Melissa Crisci

Rowan-Virtua Research Day

Background: Acute lymphoblastic leukemia (ALL) is the most common cancer in children and also one of the most curable, with current cure rates surpassing 90%. Immunotherapy using biologics is an emerging cancer treatment approach that shows significant promise and is generally less toxic than traditional chemotherapy. Due to its lower toxicity compared to chemotherapy, standalone immunotherapy may represent a promising treatment option for pediatric ALL patients.

Hypothesis: This review aims to compare acute side effect profiles and chronic complications in chemotherapy versus immunotherapy treatment modalities for pediatric patients with ALL. Immunotherapy is hypothesized to have a more tolerable side effect …

The Repercussions Of Race-Based Egfr On The Morbidity & Mortality Of Black Children With Renal Disease, Angelina Siino

Rowan-Virtua Research Day

This study investigates the implications of race-based adjustments in estimated glomerular filtration rate (eGFR) calculations on the health outcomes of Black children with renal disease. Historically, a race coefficient has been added to eGFR calculations for patients identified as Black, resulting in an artificial inflation of kidney function by approximately 16%. This inflation can delay the classification of chronic kidney disease (CKD), postpone eligibility for essential interventions like preemptive kidney transplantation, and prolong reliance on maintenance dialysis. Through a comprehensive literature review of peer-reviewed U.S. medical journal articles published between 2000 and 2023, this work explores how these clinical delays …

Chemical Exposures In Utero: Phthalates And Congenital Heart Defects, Demi Poulathas

Rowan-Virtua Research Day

Background: Congenital heart defects (CHDs) are the most common type of birth defect. Approximately 80% of CHDs have unknown causes, and phthalates may play a contributing role. Phthalates are ubiquitous environmental chemicals used as plasticizers in a wide range of products, including cosmetics and electronic devices. After entering the body, phthalates bind to the progesterone receptor, which is necessary for fetal development. While multiple studies have explored environmental factors in CHD development, few have examined the effects of phthalates on CHDs in humans. Methods: A literature review was conducted to investigate the relationship between parental occupational phthalate exposure and the …

Examining The Relationship Between Nutritional Access And Childhood Obesity In Low-Resource South Jersey Communities, Anastasiya Matveyenko, Saul Madrid-Flores, Arleen Fortuna, Kirsten Marie Carlberg

Rowan-Virtua Research Day

BACKGROUND: Childhood obesity is defined as a child considered to have obesity when their body mass index falls in the top 5% compared to other children of the same age and gender. Unhealthy eating habits formed during childhood have been associated with diseases such as obesity and diabetes. We aim to examine the relationship between childhood obesity and barriers to optimal nutrition in our local South Jersey community.

METHODS: We conducted a literature review through Google, Google Scholar, and PubMed utilizing the key terms, “low socioeconomic status (SES),” “Childhood obesity in NJ,” “Nutritional Intervention,” and “Health Risks.”

RESULTS: Our study …

Case: Pituitary Mass In A Pediatric Patient, Alyssa Baldini, Carla Calvo

Rowan-Virtua Research Day

We report a case of a 16-year-old female presented to the pediatric emergency department for intermittent visual disturbance and was diagnosed with a pituitary mass resulting in episodic complete bilateral vision loss. Pediatric neurologic complaints can be challenging for a number of reasons. It is important as much as possible to obtain a detailed history from the patient and parent, conduct a relevant chart review, and identify if there have been any recent medication changes. Seeking expert consultation may also be helpful in establishing a diagnosis.

Effectiveness Of The Use Of An Opt-Out Script To Increase Hiv Screening In Adolescent Clients In Pediatric Primary Care Clinics In West Tennessee: A Scoping Review, Julie Cupples Msn, Rn, Allison Johnson Ms, Bsn, Rn, Sally Humphrey Dnp, Aprn, Cpnp-Pc

Doctor of Nursing Practice Projects

Purpose/Background

The American Academy of Pediatrics (AAP) and the Centers for Disease Control and Prevention (CDC) recommend one-time human immunodeficiency virus (HIV) screening for all adolescents. Pediatric primary care providers are on the front lines of adolescent healthcare and can provide testing that is adolescent-friendly, confidential, and easily accessible. This scoping review aims to synthesize the evidence and assess the literature on the efficacy of using an opt-out script to increase HIV testing in adolescent well-child checks.

Methods

A literature review was conducted between October 2022 and August 2024 to collect studies assessing adolescents aged 12-18, provider-led sex education, and …

Use Of Procalcitonin In Therapeutic Decisions In The Pediatric Intensive Care Unit, Pierre Tissières, Elisabeth Esteban Torné, Johannes Hübner, Adrienne Randolph, Corsino Rey Galán, Scott Weiss

Department of Medicine Faculty Papers

Procalcitonin (PCT) is frequently used by clinicians in children with suspected bacterial infections and sepsis. However interpretation in the critically ill child may be challenging due to the complexity of underlying conditions and its impact on PCT values. Herein, we propose a guidance for the use of procalcitonin in critically ill children, supported by a comprehensive analysis of the literature, to help the clinician for interpreting PCT in the various clinical conditions encountered in pediatric intensive care units. We describe the importance of the clinical context, timing of measurement and evidence on PCT values in diagnosing sepsis and to guide …

The Impact Of Digital Inequities On Oropharyngeal Cancer Disparities In The United States, David J. Fei-Zhang, Achilles A. Kanaris, Camaren M. Cuenca, Sydney A. Fleishman, Jill N. D'Souza, Anthony M. Sheyn, Daniel C. Chelius, Jeffrey C. Rastatter

School of Medicine Faculty Publications

Objective: To assess associations of digital inequity with oropharyngeal cancer (OPC) prognostic and care outcomes in the United States while adjusting for traditional social determinants/drivers of health (SDoH). Study Design: Retrospective cohort study. Setting: United States. Methods: In total, 70,604 patients from 2008 to 2017 were assessed for regression trends in long-term follow-up period, survival, prognosis, and treatment across increasing overall digital inequity, as measured by the Digital Inequity Index (DII). DII is based on 17 census-tract level variables derived from the American Community Survey and Federal Communications Commission. Variables were categorized as infrastructure-access (ie, digital-related variables) or sociodemographic (ie, …