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

Review Of: A Fragile Heritage: Untangling The Strands Of Faith And Mutation—Sheryl Leinbach, Beth Bennett, Karen Conley

Journal of Amish and Plain Anabaptist Studies

Get ready for an emotional roller coaster with parallel intellectual stimulation while reading Sheryl Leinbach’s A Fragile Heritage. Sheryl authentically describes the span of emotions and challenges faced by the mother of a child with Maple Syrup Urine Disease (MSUD), from birth through successful liver transplant. The book invites the reader to accompany the author on a journey of growing faith, intellectual expansion, and societal reflection as the family navigates through the turbulence of loving a notably broken child in a fallen world. [First paragraph.]

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). …

A Mechanistic Model Of Adhesion, Inflammation, Sleep, And Pain In Sickle Cell Patients, Milan Marsh, Rebecca Segal

Biology and Medicine Through Mathematics Conference

No abstract provided.

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 …

Medical Providers’ Perspective On Barriers Faced By Intellectual And Developmental Disabled (Idd) Patients From Medically Underserved Backgrounds, Mayra A. Flores

Rowan-Virtua Research Day

•Complexities of obtaining healthcare access can be difficult for all patients across the board, so much so that it’s viewed as a maze. Studies have shown that these challenges are added on for medically underserved communities.2-3 Some of these challenges include insurance, language barriers, appointment availability, stigma, financial limitations and lack of transportation.2 •Identify the barriers that patients with intellectual and developmental disabilities (IDD) from medically underserved backgrounds face in healthcare access. •Intellectually and developmentally disabled patients from medically underserved communities face exacerbated barriers in healthcare access. •Participating medical providers from the Regional Integrated Special Needs Center (RISN) – Sewell …

Lactate-Induced Mitochondrial Magnesium Uptake And Its Metabolic Implications In The Mcardle’S Disease Model, Thiruvelselvan Ponnusamy, Jeremy Mehta, Haris Waseem, Marianne Assogba, Dianne Langford, Natarajaseenivasan Kalimuthusamy, Shanmughapriya Santhanam

Rowan-Virtua Research Day

McArdle disease, caused by mutations in the PYGM gene, impairs glycogenolysis in skeletal muscle, reducing lactate production and leading to energy deficits, fatigue, and risk of rhabdomyolysis. Using a CRISPR/Cas9-generated PYGM knockout (KO) rat model, we investigated whether reduced lactate production disrupts mitochondrial magnesium (Mg²⁺) homeostasis. KO rats failed to elevate lactate during static muscle contraction and showed diminished mitochondrial Mg²⁺ uptake, disrupted ATP synthesis, and impaired mitochondrial respiration. In vitro, caffeine-stimulated KO myotubes lacked lactate production and mitochondrial Mg²⁺ uptake despite preserved Ca²⁺ oscillations. Raising glucose concentration restored lactate levels, rescued mitochondrial Mg²⁺ transport, and improved metabolic output in …

Comparative Efficacy Of Intravenous Ketamine And Lidocaine Infusions For Pain Management In Sickle Cell Vaso-Occlusive Crisis (Voc), Akhil Tumpudi Md

Rowan-Virtua Research Day

Sickle cell disease (SCD) is a hereditary hemoglobin disorder characterized by vaso-occlusion and recurrent acute painful crises, which are the leading cause of hospitalization in affected individuals (1,2). Opioids remain the primary treatment for vaso-occlusive crisis (VOC) pain but are associated with adverse effects, tolerance, and risk of dependence, prompting investigation into opioid-sparing adjuncts (1,2). Intravenous ketamine, an NMDA receptor antagonist, has shown modest opioid reduction in randomized and observational studies, though pain score improvements are inconsistent (3–6). Intravenous lidocaine, a sodium channel blocker, has also demonstrated potential opioid-sparing effects in retrospective cohorts with limited evidence of analgesic superiority (7–9). …

Acute Ischemic Stroke In Hemoglobin Sc Sickle Disease Requiring Emergent Exchange Transfusion And Neurocritical Transfer, Julian Coz, Trent Malcolm, Andrew Iskandar, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

Acute ischemic stroke is a well-recognized complication of sickle cell disease (SCD), with historical estimates suggesting that up to 11% of patients experience an overt stroke by early adulthood. Stroke represents a hematologic and neurologic emergency requiring rapid reduction of the circulating hemoglobin S (HbS) fraction to prevent infarct progression. The American Society of Hematology recommends emergent exchange transfusion within two hours of presentation for patients with acute neurologic deficits [1,3].

Management is particularly nuanced in hemoglobin SC (HbSC) disease. Compared with hemoglobin SS disease, patients with HbSC typically have higher baseline hemoglobin concentrations, increasing blood viscosity and the risk …

Ketamine With Opioids Vs. Ketamine With Non-Opioid Analgesics For Vaso-Occlusive Crisis In Sickle Cell Disease: A Prisma-Style Scoping Review, Akhil Tumpudi

Rowan-Virtua Research Day

Vaso-occlusive crises (VOCs) are the hallmark of Sickle Cell Disease (SCD) and a leading cause of hospitalization. Pain management relies heavily on opioids, but repeated exposure carries risks including tolerance, hyperalgesia, and adverse effects. Ketamine, an NMDA receptor antagonist, has emerged as an adjunctive agent with potential opioid-sparing effects (1–3,7). Systematic reviews suggest ketamine may reduce pain scores and possibly opioid requirements, though pooled results remain inconsistent (5,6,8). While ketamine + opioid regimens have been studied, the feasibility, efficacy, and safety of ketamine combined with non-opioid analgesics for VOC remain largely unknown. Understanding the comparative effectiveness of these approaches is …

Case Report: Dandy-Walker Malformation In An Adolescent Presenting With Aggressive Behavior, Kristen Arulsamy, Wayne Tamaska, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

We report a case of a 15-year-old male who presented to the Emergency Department(ED) for agitation and was subsequently diagnosed with Dandy-Walker malformation (DWM). DWM is a rare congenital abnormality of the posterior fossa characterized by hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and enlargement of the posterior fossa. It is typically diagnosed during infancy due to hydrocephalus, developmental delay, or neurologic abnormalities. Late presentations in adolescence are uncommon and may occur incidentally during evaluation for unrelated conditions.

Arrhythmic Syncope And Brugada Syndrome: Critical Identification Of High-Risk Patterns At The Ed Frontline, Kristine Rubi, Brittany Fera, Kelsey Murray, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

Brugada Syndrome (BrS) is a premier cause of sudden cardiac death (SCD) in structurally normal hearts, particularly in Southeast Asia (SEA) where it is historically recognized as Sudden Unexplained Nocturnal Death Syndrome (SUNDS). We report the case of a 55-year-old male of Vietnamese descent who presented to the emergency department (ED) after a sudden, non-prodromal syncopal episode at rest. The event was significant for urinary incontinence and diaphoresis, classic red flags for arrhythmic syncope. Bedside electrocardiogram (EKG) demonstrated the pathognomonic Type 1 coved ST-segment elevation in leads V1 and V2. This symptomatic presentation following a six-year "follow-up gap" since a …

Gut Microbiota Dysbiosis In Down Syndrome: Implications For Gastrointestinal And Neurological Health, Ashlyn Mcclelland, Jennifer Lecomte, Wendy Aita, Andrea Iannuzzelli

Rowan-Virtua Research Day

Down syndrome (DS) is the most common autosomal aneuploidy and has strong associations with increased gastrointestinal, neurological, and immune disorders. Emerging evidence suggests that gut microbiota dysbiosis may play a prominent role in disorders of gut-brain interaction, including constipation and irritable bowel syndrome affecting over half of individuals with DS. This review examines how gut microbiota alterations can contribute to chronic systemic inflammation and neurological manifestations in DS. Included articles were published between 2014 and 2025 and evaluated microbiota composition, inflammatory markers, and gastrointestinal or neurological outcomes in human or animal models of DS.

Across seven studies, characteristic microbiome shifts …

Designing For Difference: A Systems Approach To Sensory-Adaptive Care In The Emergency Department, James Espinosa, Alan Lucerna, Henry Schuitema

Rowan-Virtua Research Day

Children with genetic syndromes and other neurodevelopmental conditions frequently present to the Emergency Department (ED) with sensory vulnerabilities that complicate evaluation and treatment in high-stimulus environments. While experienced clinicians often adapt instinctively to meet these needs, such adaptations may be inconsistently applied and may also be highly individual provider dependent. We present a case involving a child with a genetic syndrome affecting auditory and visual systems to illustrate how small environmental, relational, temporal, and cognitive adjustments can prevent escalation and enable routine care delivery without specialized resources.

We propose reframing sensory-adaptive care not as an exceptional accommodation but as a …

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 …

The Development Of A Crispr-Based Calibrated Functional Assay For Classifying Pathogenicity Of Msh2 And Msh6 Variants In Lynch Syndrome, Olivia N. Amodeo

Honors Scholar Theses

Lynch syndrome is a hereditary disease caused by the inheritance of a mismatch repair gene variant. Individuals with this condition are predisposed to cancer development, most commonly colorectal cancer. Current guidelines for variant classification are based on numerous evidence categories, including functional evidence. However, many novel clinical variants are not well characterized, and evidence is difficult to obtain if functional assays are not calibrated.

To address this, our lab created a calibrated functional assay that calculates an odds of pathogenicity score for MSH2 and MSH6 gene variants that can be used as evidence for classifying variants of uncertain significance. This …

Cleft Palate And The Coordination Of Wnt Signaling And Pax9 In Murine Palatogenesis, Landon Wyatt

Honors Theses

Cleft palate is a common craniofacial birth defect that arises when the molecular and morphogenetic events guiding secondary palate formation lose coordination during a narrow developmental window. In mice, successful palatogenesis requires the paired palatal shelves to grow vertically, elevate above the tongue, and fuse at the midline; disruption of any of these steps can result in clefting. Two important regulators of this process are canonical Wnt signaling and the transcription factor Pax9, both of which contribute to normal palatal mesenchymal growth and patterning during early development. This paper first examines whether altered Dkk1/Wnt signaling contributes to the Pax9-null palate …

Biomechanical Effects Of Bilateral Torsion And Skeletal Fusion: A Case Study, Linnéa Forbes

Honors Projects

As part of both a personal endeavor and an academic project, I have investigated the aetiology and treatment of seemingly idiopathic and debilitating leg pain in a patient over the past 10 years. Via collaboration with medical professionals at Cincinnati Children’s Hospital, Cincinnati Premier Physical Therapy, and Cincinnati Women’s TriHealth, I have identified sources of pain at the anatomical level. The combination of internal femoral torsion, external tibial torsion, pes planus, and bony fusions appear to be major perpetuators of the pain. An effective treatment continues to be evasive. To date, I have attempted to find answers through genetic approaches, …

Recurrent Ventricular Tachycardia In Young Hcm Patient With Icd, Michael Rollins, Garza, Laura Preece

Central & West Texas and San Antonio GME Research Day 2026

No abstract provided.

The Case Of A Pain-Ridden Pregnancy In A Woman With Sickle Cell Disease, Katie Riffle, Linda Haddox

Central & West Texas and San Antonio GME Research Day 2026

No abstract provided.

Symptomatic Chiari 1 Malformation In A 35-Year-Old Female, Ignatius Mmodebelu, Jaime Natividad, Jonathan Carpenter, Juan Rodriguez

Central & West Texas and San Antonio GME Research Day 2026

No abstract provided.