Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Mutation Screening For Confirming Suspected Spinal Muscular Atrophy Using Dried Blood Spotted On In-House Cellulose-Based Cards, Yogik Onky Silvana Wijaya, Farda Tsaqouva Ahza, Annisa Naufal Almaszahra, Mawaddah Ar Rochmah, Dian Kesumapramudya Nurputra

Makara Journal of Science

Early and accurate diagnosis for spinal muscular atrophy (SMA) has gained relevance in an era of emerging therapies to improve patient outcomes. While screening of dried blood spots (DBS) effectively detects deletion-type SMA, non-deletion cases are often missed. Mutation screening from DBS is needed to address this gap. Here, we aimed to evaluate the feasibility of an in-house, cellulose-based card for direct Sanger sequencing for variant hunting, avoiding DNA extraction and offering an alternative to commercial cards. As a proof of concept, sequences obtained from DBSs of 23 healthy individuals were compared with sequences derived from isolated genomic DNA (gDNA). …

Multi-Grader Validation Of The Telemedicine Retinopathy Of Prematurity Severity Score, Harrison W. Pratt, Sarthak V. Shah, Cindy S. Zhao, Arthur R. Brant, Caroline R. Baumal, Cagri G. Besirli, Audina M. Berrocal, Kimberley A. Drenser, Anna L. Ells, Clio Armitage Harper, G. Baker Hubbard, Eric D. Nudleman, Polly Quiram, Irena Tsui, Edward Wood, Yoshihiro Yonekawa, Tatiana Rosenblatt, Jochen Kumm, Darius M. Moshfeghi

Wills Eye Hospital Papers

We aimed to statefully validate Retinopathy of Prematurity (ROP) grading by evaluating intergrader variability over age-matched simulated exams. In a prospective retinal photographic grading cohort study, both eyes of twenty patients with five images per eye per visit were graded by twelve expert graders across six weekly visits. For each eye visit, ROP experts graded the Zone, Stage, and Plus, from which the Telemedicine ROP Severity Score (tROP-SS) was calculated. Graders retained knowledge of prior assessments for a given eye and followed International Classification of ROP rules. Intergrader coefficient of variation (CoV) for Zone, Stage, Plus, and tROP-SS remained below …

Play To Win: A Randomized Controlled Trial To Assess The Effects Of Play-Based Training On Upper Extremity Function In Children With Hemiplegia, Vivian London

Honors Scholar Theses

Hemiplegia, or paralysis of one side of the body, is the primary symptom of unilateral cerebral palsy, a subtype of cerebral palsy, the most common movement disorder in children. Standard of care is regular physical and occupational therapy to improve performance in bimanual activities, but conventional therapy can be expensive and draining for caregivers and children, so a need exists for a novel intervention that can take place at home and that is economical for families while being engaging for children. This thesis reports data from a subset of ten children seen as part of a randomized controlled clinical trial …

Comparison Of Ventilation Support During Laser Treatment Of Retinopathy Of Prematurity, Jason Peng, Raghav Taneja, Barry N. Wasserman, Krystal Hunter, Vineet Bhandari, Alla Kushnir

Wills Eye Hospital Papers

Highlights: What are the main findings? Preterm infants undergoing ROP laser surgery with routine elective intubation had significantly longer durations of post-operative mechanical ventilation. Routine intubation during this procedure did not improve short-term clinical outcomes, such as overall hospital length of stay or timing of laser intervention in the infant’s life. What are the implications of the main findings? Routine intubation strategies may unnecessarily increase exposure to mechanical ventilation without improving clinical outcomes. Standardization of perioperative intubation practices across hospitals may be needed to optimize respiratory support in this vulnerable population. Objective: To compare respiratory outcomes between infants undergoing retinopathy …

Hydroxypropyl Methylcellulose As A Mucoadhesive Polymer In Ethanol-Free Buprenorphine Gel For Neonatal Sublingual Delivery, Sanskruti Dave, Viren Soni, Samarth A. Shah, Walter K. Kraft, Gagan Kaushal

College of Pharmacy Faculty Papers

Buprenorphine (BUP) is widely used in the treatment of neonatal opioid withdrawal syndrome (NOWS). However, the most compounded formulation contains 30% ethanol, despite regulatory and clinical concerns regarding ethanol exposure in pediatric patients. Thus, this research aimed to develop an ethanol-free sublingual (SL) gel formulation of BUP that would be safe, stable, and suitable for NOWS. Multiple polymers were screened as gelling agents, with hydroxypropyl methylcellulose (HPMC) emerging as the ideal base polymer for the formulation due to its optimal pH, rheological characteristics, and stability. The formulated gels were stored at room temperature and refrigerated conditions for 30 days and …

Case Report: Unique Presentation Of Mediastinal Mullerian Duct Cyst Developing Alongside Bronchial Cyst, Julia Dane, Stephanie Ngom Morris, Vaughan Marr, Bryan Steinberg

West Florida Division GME Research Day 2026

No abstract provided.

First Reported Robotic-Assisted Falciform Ligament Patch Repair Of An Iatrogenic Larrey-Type Anterior Diaphragmatic Defect Following Subxiphoid Pericardial Window, Christian M. Simon, Elisabeth Barrar, Husain Abbas

South Atlantic Division GME Research Days 2026

No abstract provided.

Finding Foxg1 Syndrome In An Adult Patient, Claudia Ludden, Timothy P. Connelly

South Atlantic Division GME Research Days 2026

No abstract provided.

Myocardial Pi3k-Akt Pathway And Cardiovascular Disease Etiology, Bryson Lovorn, Brennan Kaplan

Student Scholar Symposium

Cardiovascular diseases (CVD) are the leading causes of death in the United States according to recent data from the Center for Disease Control (CDC). Myocardial infarctions, heart attacks, Coronary Artery Disease, ischemic reperfusion injuries, and hypertrophic cardiomyopathies represent common pathologies leading to the hospitalization of Americans. The etiologies of these diseases vary, however there is a common link. The phosphatidylinositol-3-kinase (PI3K) AKT pathway is a cellular pathway that is commonly overexpressed or repressed in myocytes. The human body is in an active limbo to maintain homeostasis. At a cellular level this can be simplified to a delicate balance between cell …

Management Of Stone Disease In The Spina Bifida Patient, Meghan F. Davis, Kyle L. Yu, Arun K. Srinivasan

Department of Medicine Faculty Papers

PURPOSE OF THE REVIEW: This review provides a detailed overview of the specifics of presentation, diagnosis, and management of upper and lower urinary tract stone disease for individuals with spina bifida.

RECENT FINDINGS: Recent studies highlight the significant burden of stone disease for spina bifida patients. Individuals with spina bifida require lifelong urologic care. They are more likely to have stone disease and have complications from management. This is a particularly salient issue for patients who have undergone bladder augmentation. Given the frequency and severity of these issues, it is critical that urologists be familiar with the nuances of stone …

Optimizing Pharmacologic Treatment For Neonatal Opioid Withdrawal Syndrome (Optimize Now): A Symptom-Based Dosing Approach Study Protocol For A Multi-Center, Cluster Crossover Design Randomized Controlled Trial, Leslie W. Young, Denise C. Babineau, Abhik Das, Sara Demauro, Walter K. Kraft, Scott Lorch, Michele C. Walsh, Stephanie Merhar, Lori A. Devlin

Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers

BACKGROUND: Opioid use and misuse during pregnancy rose from 1.5 to 6.5 per 1000 deliveries between 1999 and 2014 and continues as a significant public health concern. A fivefold increase in neonatal opioid withdrawal syndrome (NOWS) has accompanied the increase in opioid use. The Eating, Sleeping, Consoling care approach (ESC) has been shown to improve outcomes for infants with NOWS and is quickly becoming the standard of care for infants affected by opioid use disorder. Quality improvement initiatives following the implementation of ESC provide some evidence to suggest that symptom-based (i.e., as needed, PRN, just in time) dosing of opioid …

Development Of Emerin Mrna Lipid Nanoparticles To Rescue Myogenic Differentiation., Nicholas Marano, Liza Elif Guner, Rachel S Riley, James M Holaska

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Emery-Dreifuss muscular dystrophy 1 (EDMD1) arises from mutations in EMD. Most EDMD1 patients lack detectable emerin expression. They experience symptoms such as skeletal muscle wasting, joint contractures, and cardiac conduction defects. Currently, physicians rely on treating patient symptoms without addressing the underlying cause-lack of functional emerin protein. Thus, there is a need for therapeutic approaches that restore emerin protein expression to improve patient outcomes. One way would be to deliver emerin mRNA or protein directly to affected tissues to restore tissue homeostasis. Here, we evaluated the utility of lipid nanoparticles (LNPs) to deliver emerin mRNA to diseased cells. LNPs …

Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking Into Cell-Free Therapies For Bone-Affected Lysosomal Storage Disorders, Andrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Lysosomal storage disorders (LSDs) constitute a group of monogenic systemic diseases resulting from deficiencies in specific lysosomal enzymes that cause the intralysosomal accumulation of non- or partially degraded substrates, leading to lysosomal dysfunction. In some cases of LSDs, the bone is more severely affected, thus producing skeletal manifestations in patients. Current therapies, such as enzyme replacement therapy (ERT) and gene therapy (GT), show limited efficacy in correcting skeletal abnormalities. Increasing evidence suggests that microenvironmental disturbances also contribute significantly to disease pathogenesis. Therefore, therapeutic strategies targeting lysosomal dysfunction and microenvironmental dysregulation are needed. Mesenchymal stem-cell-derived extracellular vesicles (MSC-EVs) are emerging as …

Detecting Early Changes In Cartilage Collagen And Proteoglycans Distribution Gradients In Mice Harboring The R992c Collagen Ii Mutant Using 2d Correlation Infrared Spectroscopy, Jolanta Fertala, Andrzej Steplewski, Andrzej Fertala

Department of Orthopaedic Surgery Faculty Papers

Collagen II is a vital structural component in developing bones and mature cartilage. Muta- tions in this protein cause spondyloepiphyseal dysplasia, a disease characterized primarily by altered skeletal growth and manifesting with a range of phenotypes, from lethal to mild. This study examined transgenic mice harboring the R992C (p.R1124C) substitution in colla- gen II. Previous research demonstrated significant growth abnormalities and disorganized growth plate structure in these mice, and histological signs of osteoarthritic changes in the knee joints of 9-month-old mice with the R992C mutation. Our study focuses on detecting early structural changes in the articular cartilage that occur before …

Ultrasonographic Appearance Of Suspected Zinner Syndrome, Wen Hao Luo, Jared Garfinkle, Jack Hennen, Robert Martin, Kathleen Deiling

Rowan-Virtua Research Day

Zinner syndrome (ZS) is a rare congenital condition characterized by the triad of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction. ZS is suspected to be caused by the malformation of the mesonephric duct during embryogenesis. The incomplete migration of the ureteric bud results in ipsilateral renal agenesis and ejaculatory duct obstruction. The remaining gonad develops with inadequate seminal fluid drainage, leading to the formation of seminal vesicle cysts. ZS is often asymptomatic, leading to challenges in diagnosis, particularly in adolescents. Symptoms can include pain, dysuria, pollakisuria, perineal pain, epididymitis, and pain after ejaculation. Imaging plays …

Volatile Anesthetic Exposure During Organogenesis (Weeks 6-9): Implications For Fetal Brain Development, Cheryce Daniel, Kylon Coombs

Rowan-Virtua Research Day

Organogenesis, particularly during gestational weeks 6 through 9, represent a critical window for fetal brain development. During this period, neurogenesis, neural tube closure and synaptic organization are actively occurring. Disruption of these processes, especially from exogenous agents, can result in lasting developmental consequences.

The U.S Food and Drug Administration has issued warnings regarding the use of anesthetic agents such as isoflurane, sevoflurane, and desflurane. Noting the potential risk of neurotoxic effects on the developing brain. This warning is particularly highlighted when administered drugs are present for long periods of time or during repeated procedures. The goal of this literature review …

Effectiveness Of Intrapartum Azithromycin To Prevent Infections In Planned Vaginal Births In Low-Income And Middle-Income Countries: A Post-Hoc Analysis Of Data From A Multicentre, Randomised, Double-Blind Placebo-Controlled Trial, Waldemar A. Carlo, Alan T.N. Tita, Janet L. Moore, Musaku Mwenechanya, Elwyn Chomba, Jennifer J. Hemingway-Foday, Avinash Kavi, Mrityunjay C. Metgud, Shivaprasad S. Goudar, Richard J. Derman, Adrien Lokangaka, Antoinette Tshefu, Melissa Bauserman, Jackie K. Patterson, Poonam Shivkumar, Manju Waikar, Archana Patel, Patricia L. Hibberd, Paul Nyongesa, Fabian Esamai, Osayame Austine Ekhaguere, Sherri Bucher, Saleem Jessani, Shiyam Sunder Tikmani, Sarah Saleem, Robert L. Goldenberg, Sk Masum Billah, Ruth Lennox, Rashidul Haque, William Petri, Manolo Mazariegos, Nancy F. Krebs, Denise C. Babineau, Elizabeth M. Mcclure, Marion Koso-Thomas, A-Plus Trial Group

Global Health Articles

Background

In 2023, the Azithromycin Prevention in Labor Use (A-PLUS) trial showed intrapartum azithromycin reduces maternal sepsis or death in women with planned vaginal delivery in low-resource settings, but whether it reduces maternal infection is unknown. We aimed to evaluate the effectiveness of intrapartum azithromycin in reducing maternal infection.

Methods

We performed a post-hoc analysis of the multicentre, facility-based, randomised, double-blind, placebo-controlled A-PLUS trial. This trial compared prophylactic intrapartum single oral dose of 2 g azithromycin versus placebo on maternal morbidity and mortality in low-resource settings in southeast Asia and Africa from Sept 9, 2020, to Aug 18, 2022. The …

Spetzler-Martin Grade I And Ii Cerebral Arteriovenous Malformations: A Propensity-Score Matched Analysis Of Resection And Stereotactic Radiosurgery In Adult Patients, Salem Tos, Mahmoud Osama, Georgios Mantziaris, Bardia Hajikarimloo, Nimer Adeeb, Sandeep Kandregula, Adam Dmytriw, Hamza Adel Salim, Basel Musmar, Kareem El Naamani, Christopher Ogilvy, Douglas Kondziolka, Ahmed Abdelsalam, Deepak Kumbhare, Sanjeev Gummadi, Cagdas Ataoglu, Ufuk Erginoglu, Muhammed Amir Essibayi, Abdullah Keles, Sandeep Muram, Daniel Sconzo, Howard Riina, Arwin Rezai, Johannes Pöppe, Rajeev Sen, Omar Alwakaa, Christoph Griessenauer, Pascal Jabbour, Stavropoula Tjoumakaris, Jan-Karl Burkhardt, Robert Starke, Mustafa Baskaya, Laligam Sekhar, Michael Levitt, David Altschul, Neil Haranhalli, Malia Mcavoy, Assala Aslan, Abdallah Abushehab, Christian Swaid, Adib Abla, Christopher Stapleton, Matthew Koch, Visish M Srinivasan, Peng Chen, Spiros Blackburn, Mark Dannenbaum, Omar Choudhri, Bryan Pukenas, Darren Orbach, Edward Smith, Markus Möhlenbruch, Ali Alaraj, Ali Aziz-Sultan, Aman Patel, Hugo Cuellar, Michael Lawton, Jacques Morcos, Bharat Guthikonda, Jason Sheehan

Department of Neurosurgery Faculty Papers

Cerebral arteriovenous malformations (AVMs) are congenital vascular anomalies that can lead to severe complications, including hemorrhage and neurological deficits. This study compares the outcomes of microsurgical resection and stereotactic radiosurgery (SRS) for SM grade I and II AVMs. Out of a large multicenter registry, we identified 180 matched patients with SM grade I and II AVMs treated with either microsurgical resection or SRS between 2010 and 2023. The primary outcomes were AVM obliteration rates and complications; secondary outcomes included neurological status and functional outcomes measured by the modified Rankin Scale (mRS). Propensity score matching (PSM) was utilized to ensure comparability …

Bayesian Population Pharmacokinetic Modeling Of Ondansetron For Neonatal Opioid Withdrawal Syndrome, Kevin Lam, John Mondick, Gary Peltz, Manhong Wu, Walter Kraft

Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers

Ondansetron is an anti-emetic 5-HT3 receptor antagonist being investigated for treating neonatal opioid withdrawal syndrome (NOWS). Sparse PK data were analyzed from a multicenter, double-blind clinical trial with 98 mother/neonate dyads. Pregnant women with opioid use disorder were randomized to receive either placebo or ondansetron 8 mg intravenously within 4 h of delivery. Neonates born to mothers who were randomized to ondansetron received 0.07 mg/kg orally once every 24 h for up to five doses. Using current PK data, model parameters from a two-compartmental structural model from the literature (i.e., a priori model) were updated with the Metropolis-Hastings Markov-chain Monte …

Clinical Outcomes In Patients With Cystic Fibrosis Receiving Cftr Modulators: A Comparison Of Childhood Versus Adolescent Initiation, Eman A. Toraih, Hassan A. Malik, Rahib K. Islam, Humza A. Pirzadah, Ahmed Abdelmaksoud, Rami M. Elshazli, Paul Antwi Boasiako, Shehab Ahmed Alenazi, Angelique Dabel, Jessan A. Jishu, Bandar T. Alenezi, Hani Aiash, Manal S. Fawzy

School of Medicine Faculty Publications

BACKGROUND/OBJECTIVES: Cystic fibrosis (CF) is a life-limiting genetic disorder affecting multiple organ systems. This study compared clinical outcomes, hospitalization rates, and survival between children and adolescents with CF who received CFTR modulator therapies (ivacaftor, lumacaftor, tezacaftor, and elexacaftor). METHODS: A retrospective cohort study was conducted using data from the TriNetX global collaborative network. Patients with CF aged 2-12 years (children) and 13-18 years (adolescents) who received CFTR modulator therapies were included. The propensity score matching balanced baseline characteristics between the two age groups. RESULTS: After propensity score matching, 946 patients per group were analyzed. The incidence of respiratory failure (3.81% …

Comprehensive Overview Of Gastroschisis, Alexis Carver

Mako: NSU Undergraduate Student Journal

Gastroschisis is a congenital defect of the abdominal wall viscera that occurs during early embryonic development, leading to the protrusion of bowel through an opening near the umbilical cord. This condition is classified as either simple, involving only the bowel, or complex, involving additional complications like necrosis or intestinal atresia. While the exact cause of gastroschisis remains unknown, it is believed to be influenced by a combination of genetic and environmental factors. This congenital disorder affects a very small percentage of neonates, and the associated mortality rates are relatively low due to modern developments in medical science. Gastroschisis can be …

Congenital Posterior Urethroperineal Fistula Presenting As A Cystic Mass, Muhammad Siddiqui, Sang Woo Pak, Preeya Mistry, Sarah Starnes, Stacy White, Anthony Zarka, Lori Gurien

South Atlantic Division GME Research Day 2025

No abstract provided.

Surgical Outcomes Of Median Arcuate Ligament Release, Savannah Yeh, Alina Chen, Yasmeen Dhindsa, Peter Lawrence, Karen Woo

South Atlantic Division GME Research Day 2025

No abstract provided.

Antibiotics For Culture-Negative Neonatal Early-Onset Sepsis: Measuring The Unmeasurable, Dustin D Flannery, Matthew B Green

Rowan-Virtua School of Osteopathic Medicine Departmental Research

No abstract provided.

Normalization Of Cystic Fibrosis Immune System Reverses Intestinal Neutrophilic Inflammation And Significantly Improves The Survival Of Cystic Fibrosis Mice, Callie E. Scull, Yawen Hu, Scott Jennings, Guoshun Wang

School of Medicine Faculty Publications

BACKGROUND & AIMS: Cystic fibrosis (CF) is an autosomal recessive genetic disorder, affecting multiple organ systems. CF intestinal disease develops early, manifesting as intestinal bacterial overgrowth/dysbiosis, neutrophilic inflammation, and obstruction. As unresolvable infection and inflammation reflect host immune deficiency, we sought to determine if the CF-affected immune system plays any significant role in CF intestinal disease pathogenesis. METHODS: CF and sibling wild-type (WT) mice underwent reciprocal bone marrow transplantation. After immune reconstitution, their mortality, intestinal transit, fecal inflammatory markers, and mucosal immune cell composition were assessed. Moreover, reciprocal neutrophil transfusion was conducted to determine if neutrophil function affects intestinal movement. …

Pediatric Cardiac Xenotransplantation And Expanded Access: Ethical Considerations, Daniel J Hurst, Christopher Bobier, Anthony Merlocco, Luz A Padilla, Daniel Rodger, David Cleveland, John D Cleveland

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Due to the current organ shortage waitlist, alternatives to allotransplantation are necessary. Xenotransplantation is currently being pursued as one such alternative in adults in need of kidney or heart transplantation. Cardiac xenotransplantation of genetically modified pig hearts has been conducted twice in adults under the United States Food and Drug Administration (FDA) expanded access criteria. Because of the shortage of transplantable hearts for children as well as the lack of mechanical circulatory support in this population, pediatric researchers are exploring FDA expanded access in high-risk neonates and infants who lack alternative options for survival. The adult cardiac xenotransplantation experience with …

Healing Horses: An Occupational Therapy Approach In An Equine Environment, Ashlyn Renee Yoder

Occupational Therapy Capstone Presentations

Aim: This project focused on the development of advanced clinical skills of OT-based hippotherapy in a pediatric setting and program development of the Genesis Therapeutic Riding Center. Information was gathered from primary and secondary sources to promote student skill acquisition, client goal progress, and parent-caregiver education of at-home interventions.

Objective: Goals focused on gaining knowledge and competencies of OT-based hippotherapy, key clinical information, and interdisciplinary roles. The purpose of this project was to highlight the impact of staff responsibilities and OT-based hippotherapy on physical and cognitive deficits.

Method: OT hippotherapy session observation and facilitation, extensive literature review, and multidisciplinary interviews …

Brief Review: Regional Anesthesia For Vaso-Occlusive Pain Crises, Oluwatomi Alade

Rowan-Virtua Research Day

Vaso-occlusive pain crisis occurs with obstruction of blood vessels from sickled red blood cells. This results in ischemic injury causing in pain. Acute vasoocclusive pain crisis is one of the most common reasons for patients with sickle cell disease to present to the hospital for medical attention. Acute treatment involves IV opioid therapy, non-opioid therapy, and IV hydration. There is a known lack of trust between a patient in acute pain and a provider in the emergency department (ED) and hospital secondary to stereotypes regarding pain seeking behavior. Here we discuss a case of vasoocclusive pain crisis refractory to opioid …

Case Report: A Case Of Ttp In The Ed, Brian F. Lim, Andrew Caravello, James A. Espinosa, Alan Lucerna

Rowan-Virtua Research Day

We report a case of a 54-year-old female who presented with mild shortness of breath, lower chest discomfort, fatigue, and weakness ongoing for several days and was diagnosed with thrombotic thrombocytopenic purpura (TTP). TTP is characterized by microangiopathic hemolytic anemia and thrombocytopenia due to either an inherited or immune-mediated reduction in von Willebrand Factor (VWF) cleaving protease ADAMTS13.

Patients presenting with non-specific symptoms is becoming increasingly common and initial bias could be to attribute symptoms to viral syndrome or upper respiratory tract infection. However, the differential for non-specific complaints is extensive and thorough review of labs and re-evaluations of patients …

Gut Microbiome And Nutrition Interplay In Regulating And Improving Autism Spectrum Disorder Related Social Symptoms, Irenonsen Juliet Eigbe, Christian Moya Gamboa, Jana Gjini, Jaydeep Mukherjee, Susrut Dube

Rowan-Virtua Research Day

The composition of the gut microbiome has been shown to play a role in the onset of neurological disorders, including Autism Spectrum Disorder(ASD). A small variety of recent research articles identify a possible link between onset and severity of ASD related behaviors and the composition of the gut microbiome. The purpose of this review is to identify gaps in the current understanding of the role that nutrition plays in changing the gut microbiome and subsequently altering the onset and severity of behavioral phenotypes in children with ASD. Inclusion criteria comprises peer-reviewed publications relating to children with autism. Exclusion criteria consists …