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

Unraveling Abdominal Heterotaxy Syndrome: A Case Study Of Intractable Nausea And Vomiting In An Adult Female, Allison Yang, Timbre Backen, Michaela Snow, Kyle Combe, Julie Krenz

Continental, MidAmerica, & Mountain Divisions GME Research Day 2024

No abstract provided.

Noonan Syndrome And Late Onset Eisenmenger Syndrome, Kimberly Solana Mathurin, Payton Williams, Amethyst Wilder

South Atlantic Division GME Research Day 2024

No abstract provided.

Congenital Atrial Septal Defect Presenting With Tamponade Physiology And An Associated Viral Illness, Angel G. Juarez, Gabriela Jhon, Rami N. Khouzam, Randall Goodroe, Russell F. Stahl, Mohamed Faris

South Atlantic Division GME Research Day 2024

No abstract provided.

Pseudohypoparathyroidism During Pregnancy: A Rare Disease With Significant Diagnostic, Clinical And Hereditary Consequences For Mother And Neonate, Sara J. Hitt, Claire Mccarthy, Renee Ricci, Bethany Bowling, Anthony Royek

South Atlantic Division GME Research Day 2024

No abstract provided.

In Utero Presentation Of Cri-Du-Chat Syndrome, Sara Hitt, Claire Mccarthy, Reese Groover, Erika Olsen, Anthony Royek

South Atlantic Division GME Research Day 2024

No abstract provided.

A Rare Case Of Infected Bronchogenic Cyst Growing Salmonella Enterica, Diane S. Habib, Jordan Torres, Salman Alim

Gulf Coast Division GME Research Symposium 2024

No abstract provided.

Reliable Detection Of Wnt7a Protein In Transfected Human Embryonic Kidney 293 Cells, Henry Okonkwo

Honors Undergraduate Theses

Fetal Alcohol Spectrum Disorders (FASDs) refer to a set of development abnormalities affecting a fetus that can result from prenatal alcohol exposure (PAE). Studies performed by the National Institute of Health estimate that the pervasiveness of FASDs may number as high as 1 to 5 per 100 school children. Congenital heart defects (CHDs) are a subset of these abnormalities and have been observed to occur in 38% of children with FASDs. While there is an association between PAE and CHDs, the exact molecular mechanism as to how it occurs remains unclear. A 2022 RNA sequencing study points to the Wnt7a …

Factors Leading To Osteoporosis In Turner Syndrome, Daniella O. Aleshinloye

Honors Undergraduate Theses

Turner Syndrome (TS) is a chromosomal disorder from conception characterized by the partial or complete absence of the second X chromosome in females. Chromosomal abnormalities, both numerical and structural, contribute to a significantly higher prevalence of fractures (30.5-32.2%) compared to non-TS postmenopausal women (14.9%). This highlights the intrinsic bone abnormalities associated with TS and increased fracture risk. Peripheral quantitative computed tomography (pQCT) is commonly used to assess bone mineral density (BMD). However, its accuracy in individuals with TS is limited due to the partial volume effect, highlighting the need for further clinical research to understand bone density changes compared to …

Real-World Pharmacological Anticoagulation And Clinical Outcomes Of Venous Thromboembolism In Adults With Sickle Cell Disease, Ming Chen

Theses and Dissertations (ETD)

Sickle cell disease (SCD) is an inherited disease characterized by sickle-shaped red blood cells that can slow or block blood flow. It affects about 100,000 people in the United States, and occurs more commonly in people of African descent. SCD is considered as a hypercoagulable state and venous thromboembolism (VTE) is a serious disease-specific complication. However, there have been limited real-world studies on VTE in SCD patients. This work aims to provide a comprehensive assessment of the risk factors and treatment of VTE in adults with SCD by using longitudinal real-world data. First, a retrospective cohort study on 30-day readmission …

Current Education Offerings On Occupational Therapy: Addressing Feeding, Eating, And Swallowing Across The Lifespan, Thilini Abeywickrema, Kate G. Barlow, Janelle Hatlevig, Cuyler Romeo, Tatiana Barcelos Pontes

Journal of Occupational Therapy Education

Occupational therapists play a vital role in the care of individuals with feeding, eating, and swallowing (FES) disorders across the lifespan. Although there are certain standards created by the Accreditation Council of Occupational Therapy (ACOTE) for understanding of assessment and management practices specific to FES, there are inconsistencies in how occupational therapy programs in the United States address FES disorders within their curriculum. This cross-sectional exploratory survey study received responses from 54 Master of Occupational Therapy (MSOT) programs and 63 entry-level Occupational Therapy Doctoral (OTD) programs. Survey questions included quantitative and qualitative information on general information regarding FES content taught …

Amondys 45 (Casimersen), A Novel Antisense Phosphorodiamidate Morpholino Oligomer: Clinical Considerations For Treatment In Duchenne Muscular Dystrophy, Megan E. Vasterling, Rebecca J. Maitski, Brice A. Davis, Julie E. Barnes, Rucha A. Kelkar, Rachel J. Klapper, Hirni Patel, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye, Giustino Varrassi

School of Medicine Faculty Publications

AMONDYS 45 (casimersen) is an antisense oligonucleotide therapy used to treat Duchenne muscular dystrophy (DMD), a rare genetic disorder characterized by a mutation in the DMD gene. Symptoms include progressive muscle weakness, respiratory and cardiac complications, and premature death. Casimersen targets a specific mutation in the DMD gene that results in the absence of dystrophin protein, a key structural component of muscle fibers. While there is currently no cure for DMD, exon-skipping therapy works by restoring the reading frame of the mutated gene, allowing the production of a partially functional dystrophin protein. Clinical trials of casimersen have shown promising results …

A Phenotypically Robust Model Of Spinal And Bulbar Muscular Atrophy In Drosophila, Kristin Richardson, Medha Sengupta, Alyson Sujkowski, Kozeta Libohova, Autumn C. Harris, Robert Wessells, Diane E. Merry, Sokol V. Todi

Department of Biochemistry and Molecular Biology Faculty Papers

Spinal and bulbar muscular atrophy (SBMA) is an X-linked disorder that affects males who inherit the androgen receptor (AR) gene with an abnormal CAG triplet repeat expansion. The resulting protein contains an elongated polyglutamine (polyQ) tract and causes motor neuron degeneration in an androgen-dependent manner. The precise molecular sequelae of SBMA are unclear. To assist with its investigation and the identification of therapeutic options, we report here a new model of SBMA in Drosophila melanogaster. We generated transgenic flies that express the full-length, human AR with a wild-type or pathogenic polyQ repeat. Each transgene is inserted into the same safe …

A Timeline Of Klinefelter’S Syndrome, Xxy, Emma Chevalier, Tyler Venegas, Mary Salibi

Undergraduate Research Symposium Posters

Klinefelter Syndrome (KS) is a non-mendelian chromosomal disorder consisting of supernumerary X chromosomes in males, 80% of which manifest as the 47,XXY karyotype. The resulting gene dosage abnormalities affect both cognitive and physical development, with variable expressivity. The disease was first described by Harry Klinefelter in 1942 and was thought to be an endocrine disorder until the late 1950s, when karyotyping of affected individuals revealed an extra X chromosome.

(It is the most common sex chromosome aneuploidy (1:500 males) and the most common cause of azoospermia. The phenotype for KS is highly contested due to its extremely variable expressivity and …

Human Parechovirus Central Nervous System Infection In A Young Infant Cohort, Aspasia Katragkou, Avni Sheth, Christina Gagliardo, Jessica Aquino, Niva Shah, Eberechi Nwaobasi-Iwuh, Christina Melchionne, Paige Black, Stephanie Chiu, Cecilia Di Pentima

Department of Pediatrics Faculty Papers

In 2022, a surge in cases of pediatric human parechovirus (HPeV) central nervous system infections in young infants was seen at our institution. Despite the dramatic increase in the number of cases seen that year, the clinical features of the illness were similar to prior years. The recent pediatric HPeV surge highlights the need to evaluate treatment options and standardize follow-up to better understand the long-term prognosis of infants with HPeV infection.

Sociodemographic Factors Influencing Pandemic-Era Ehdi Use And Access, Nicole Perez, David Adkins, Marissa Schuh, Jennifer B. Shinn, Lori Travis, Matthew L. Bush

Journal of Early Hearing Detection and Intervention

Objective: The COVID-19 pandemic impact on Early Hearing Detection and Intervention (EHDI) programs is unknown. This research evaluated sociodemographic factors influencing adherence to EDHI diagnostic testing and the incidence of infant hearing loss during the pandemic.

Method: We evaluated EHDI adherence and incidence of hearing loss in Kentucky before and during the COVID-19 pandemic. Using univariate and multivariate analysis, we evaluated the association of these outcomes to sociodemographic variables.

Results: There were 71,206 births and 1,385 referred infant hearing screening tests during the study period. Infants during the pandemic had a 24% lower odds of hearing testing adherence (OR …

Analyzing Prominent Genes In Acute Lymphocytic Leukemia (All), Shima Z. Omar

Honors College Theses

Acute lymphocytic leukemia (ALL) is the most common type of childhood cancer. Leukemia is a type of cancer that involves the bone marrow and blood. This research study examined prominent genes in the disease. Two groups of genes, tumor suppressor and cell differentiation, were compared using statistical analysis to compare their binding potential and epigenetic potential. It is most likely that I failed to detect significant differences either because these genes’ function in the disease etiology is not strongly contexed to changes in expression, or that the magnitude of the differences were too slight to be detected with these methods. …

Stigma And Patient-Controlled Analgesia: Trust Is The Essential Ingredient Of Successful Patient Education In The Patient-Doctor Relationship, Trey D. Vanaken

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using:

Van Beers EJ, Van Tuijn CFJ, Nieuwkerk PT, et al. Patient-controlled analgesia versus continuous infusion of morphine during vaso-occlusive crisis in sickle cell disease, a randomized controlled trial. Am J Hematol. 2007;82(11):955-960. https://doi.org/10.1002/ajh.20944.

for a patient with recurrent vaso-occlusive crisis secondary to Sickle Cell Disease.

A Rare Case Of Tricuspid Atresia Absent Pulmonary Valve Diagnosed On Fetal Echocardiography, Wesam Sourour, Shannon K. Powell

School of Medicine Faculty Publications

• TA absent PV is a rare congenital heart anomaly. • TA absent PV is associated with a poor prognosis. • TA absent PV can be successfully diagnosed on fetal echocardiography.

A Novel, Minimally Invasive, Paper-Based Biomarker Assay For Molecular Diagnosis Of Preeclampsia, Tomi Taiwo

Harrisburg University Research Symposium: Highlighting Research, Innovation, & Creativity

Preeclampsia is a severe pregnancy condition marked by high blood pressure and proteinuria that can strike at any point throughout pregnancy or immediately after birth. Although the exact cause of this disease is unknown, there are several symptoms associated. The goal of this study is focused on the evaluation of biomarker-based assays for molecular diagnosis of the condition in a sensitive and timely manner. This project involved the use of an immunoassay, fabricated serum samples, and a paper-based assay to assess the strength of the presence of the placental growth factor (PlGF). This was done to facilitate a proof-of-concept mechanism …

Trio-Based Gwas Identifies Novel Associations And Subtype-Specific Risk Factors For Cleft Palate, Kelsey Robinson, Trenell J Mosley, Kenneth S Rivera-González, Christopher R Jabbarpour, Sarah W Curtis, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, David J Cutler, Michael P Epstein, Lord J J Gowans, Jacqueline T Hecht, Jeffrey C Murray, Gary M Shaw, Lina Moreno Uribe, Seth M Weinberg, Harrison Brand, Mary L Marazita, Robert J Lipinski, Elizabeth J Leslie

Faculty, Staff and Student Publications

Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a single phenotype, although it manifests across a spectrum of defects involving the hard and/or soft palate. We performed a genome-wide association study using transmission disequilibrium tests of 435 case-parent trios to evaluate broad risks for any cleft palate (ACP) (n = 435), and subtype-specific risks for any cleft soft palate (CSP), (n = 259) and any cleft hard palate (CHP) (n = 125). We identified …