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

Development And Implementation Of An Evidence Based Practice Guideline Related To The Management Of Adult Angioedema, Megan Przybysz

Doctor of Nursing Practice Scholarly Projects

Angioedema (AE) is a potentially life-threatening medical condition that occurs with a higher frequency than medical providers may expect, with the emergency department (ED) serving as the usual first point of medical contact for patients. Any hesitation in recognizing AE or inconsideration of the disease process in differential diagnoses may lead to a dangerous delay of care. Due to the potential rapid progression of airway obstruction in AE, inexperienced providers should not attempt intubation, instead deferring to providers experienced in alternative airway techniques (i.e., anesthesia providers). The primary goal of this project is to develop an evidencebased practice guideline for …

Best Screening: Introducing The Neonatal Assessment Visual European Grid To Nicus In Tennessee, Gabrielle Sledge

OTD Capstone Projects

Blind Early Services Tennessee (BEST) is an early intervention agency that serves children ages 0-5 with visual impairments across Tennessee. BEST serves over 200 children and families across the state offering early intervention (BEST Start), parent empowerment (BEST Advocate), and family support (BEST Together) programming. The purpose of this project was to assist in the implementation of an early identification initiative (BEST Screening) using the Neonatal Assessment Visual European Grid (NAVEG). The NAVEG is a newborn vision screening shown to identify neurological risk for visual impairments. The long-term goal of this program is to promote the screening and early identification …

The Silent Culprit: Factor V Leiden’S Covert Role In Recurrent Miscarriages And First-Time Thromboembolism, Tanner Aldous, Sarah Almarzooqi, Mingran Yu, Jeremy Ellis

Tower Health Research Day

No abstract provided.

The Increasing Prevalence Of Cleft Lip With Or Without Cleft Palate In The Rio Grande Valley Of Texas, Yossef Alsabawi, Aaron I. Dadzie, Tyler Torres, Elias Arellano, Paul A. Berry

Research Symposium

Background: Orofacial clefts are a subset of birth defects that include cleft lip with or without cleft palate (CLP) and cleft palate alone (CP). The treatment for orofacial clefts is surgical repair, ideally within the first six months of life. Their impacts on patients and families are various and substantial. Babies with orofacial clefts can have trouble with breastfeeding, speech, recurrent ear infections, and hearing loss as they age. Additionally, there is a significant economic burden, with the average repair costing nearly $20,000, not including the costs of medical devices, postoperative care, and rehabilitation. Additionally, children with orofacial clefts face …

Encephaloceles: A Comprehensive Exploration Of Research, Causes, Prevention, And Innovative Approaches To Diagnosis And Treatment, Amanda N. Bautista

Mako: NSU Undergraduate Student Journal

Encephaloceles, a rare medical condition derived from Greek words meaning "brain hernia," involve the protrusion of brain tissue, cerebrospinal fluid, or membranes through a defect in the skull. These anomalies often present at birth and can occur in various locations on the skull. Recent research has shed light on the possible causes of encephaloceles, including genetic factors such as the Sonic Hedgehog pathway and inadequate folic acid intake during pregnancy. Folic acid is essential for proper neural tube closure during fetal development, making it a key preventive measure.

Emerging treatments for encephaloceles show promise, with a focus on mesenchymal stem …

Neighborhood Environment And Poor Maternal Glycemic Control-Associated Complications Of Gestational Diabetes Mellitus, Leela V. Thomas, Claudine T. Jurkovitz, Zugui Zhang, Mitchell R. Fawcett, M. James Lenhard

Department of Medicine Faculty Papers

INTRODUCTION: Risk of complications due to gestational diabetes mellitus is increasing in the U.S., particularly among individuals from racial minorities. Research has focused largely on clinical interventions to prevent complications, rarely on individuals' residential environments. This retrospective cohort study aims to examine the association between individuals' neighborhoods and complications of gestational diabetes mellitus.

METHODS: Demographic and clinical data were extracted from electronic health records and linked to American Community Survey data from the U.S. Census Bureau for 2,047 individuals who had 2,164 deliveries in 2014-2018. Data were analyzed in 2021-2022 using Wilcoxon rank sum test and chi-square test for bivariate …

Digital Clock Drawing As An Alzheimer's Disease Susceptibility Biomarker: Associations With Genetic Risk Score And Apoe In Older Adults, L I Thompson, M Cummings, S Emrani, David J. Libon, A Ang, C Karjadi, R Au, C Liu

Rowan-Virtua School of Osteopathic Medicine Faculty Scholarship

BACKGROUND: Alzheimer's disease (AD) is the leading cause of dementia in older adults, but most people are not diagnosed until significant neuronal loss has likely occurred along with a decline in cognition. Non-invasive and cost-effective digital biomarkers for AD have the potential to improve early detection.

OBJECTIVE: We examined the validity of DCTclockTM (a digitized clock drawing task) as an AD susceptibility biomarker.

DESIGN: We used two primary independent variables, Apolipoprotein E (APOE) ε4 allele carrier status and polygenic risk score (PRS). We examined APOE and PRS associations with DCTclockTM composite scores as dependent measures.

SETTING: We used existing data …

Mcardle Disease Rhabdomyolysis Precipitated By Acetazolamide For Idiopathic Intracranial Hypertension, Shahin Cyrus Owji, Vivian Paraskevi Douglas, Mohammad Pakravan, Chaow Charoenkijkajorn, Andrew G. Lee

Gulf Coast Division Research Day 2024

No abstract provided.

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 …

Numerical Investigation Of Subglottal Stenosis Effects On Human Voice Production, Dariush Bodaghi

Electronic Theses and Dissertations

This dissertation aimed to advance knowledge of how subglottal stenosis impacts voice production physiology. An in-house fluid-structure-acoustic interaction approach based on the hydrodynamic/acoustic splitting technique was employed. This technique was rigorously verified for simulating phonation by matching the acoustic behavior to a compressible flow solver for phonation-relevant geometries. Simulations of an idealized 2D vocal tract model demonstrated the effects of supraglottal acoustic resonance on vocal fold kinematics and glottal flow waveform. Results showed that the acoustic coupling between higher harmonics and formats generated pressure oscillations, modifying vocal fold dynamics and glottal flow rate.

A major novelty was the incorporation and …

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 …

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 …

Protein S Antibody As An Adjunct Therapy For Hemophilia B, Hope P. Wilson, Aliyah Pierre, Ashley L. Paysse, Narender Kumar, Brian C. Cooley, Pratyadipta Rudra, Adrianne W. Dorsey, Diana Polania-Villanueva, Sabyasachi Chatterjee, Maissaa Janbain, Maria C. Velez, Rinku Majumder

School of Medicine Faculty Publications

ABSTRACT: Hemophilia B (HB) is caused by an inherited deficiency of plasma coagulation factor IX (FIX). Approximately 60% of pediatric patients with HB possess a severe form of FIX deficiency (< 1% FIX activity). Treatment typically requires replacement therapy through the administration of FIX. However, exogenous FIX has a limited functional half-life, and the natural anticoagulant protein S (PS) inhibits activated FIX (FIXa). PS ultimately limits thrombin formation, which limits plasma coagulation. This regulation of FIXa activity by PS led us to test whether inhibiting PS would extend the functional half-life of FIX and thereby prolong FIX-based HB therapy. We assayed clotting times and thrombin generation to measure the efficacy of a PS antibody for increasing FIX activity in commercially obtained plasma and plasma from pediatric patients with HB. We included 11 pediatric patients who lacked additional comorbidities and coagulopathies. In vivo, we assessed thrombus formation in HB mice in the presence of the FIXa ± PS antibody. We found an accelerated rate of clotting in the presence of PS antibody. Similarly, the peak thrombin formed was significantly greater in the presence of the PS antibody, even in plasma from patients with severe HB. Furthermore, HB mice injected with PS antibody and FIX had a 4.5-fold higher accumulation of fibrin at the thrombus induction site compared with mice injected with FIX alone. Our findings imply that a PS antibody would be a valuable adjunct to increase the effectiveness of FIX replacement therapy in pediatric patients who have mild, moderate, and severe HB.

An Assessment Of Fetal Rhd Screening In Non-Invasive Prenatal Testing (Nipt) And Implementation Of Targeted Routine Antenatal Anti-D Prophylaxis (Traadp) In Enhancing Management Of Rhd-Negative Women At Risk Of Haemolytic Disease Of The Fetus/Newborn (Hdfn) In University Hospital Limerick Group (Uhlg), Anna Pohrebyannyk

International Undergraduate Journal of Health Sciences

Alloimmunisation, formerly isoimmunisation, or sensitisation can occur in pregnancy when a Rhesus D (RhD)-negative woman carries an RhD-positive fetus. Incompatibility of Rh status causes development of allo anti-D antibodies in response to antigen exposure from foreign fetal red cells in fetomaternal haemorrhages (FMHs) or potential sensitising events (PSEs) i.e., iatrogenic interventions (medical or surgical treatment), silent or spontaneous transplacental haemorrhages (STHs) in pregnancy, at birth or other traumas. Anti-D antibodies are immune-mediated and can cross the placenta and attach to fetal cells causing destruction and haemolysis. Offspring of primigravida women are unaffected usually and it is later pregnancies that may …

Muscle Defects Lead To Skeletal Deformities In A Zebrafish Model Of Distal Arthrogryposis, Emily A. Tomak

Electronic Theses and Dissertations

Distal Arthrogryposis Type 1 (DA1) involves mild muscle weakness and limb skeletal abnormalities thought to be caused by paralysis in utero. Why the limbs are particularly affected in DA1 and the degree of paralysis that leads to these skeletal deformities in utero remains unclear. Several muscle genes are known to cause DA1, including MYLPF (myosin light chain phosphorylatable), which encodes a myosin light chain protein that binds close to the force-generating head of myosin heavy chains. The zebrafish mylpfa^-/- mutant displays a phenotype consistent with DA1, including impaired myosin activity, reduced muscle force overall, and complete fin paralysis. I …

A Cryptic Microdeletion Del(12)(P11.21p11.23) Within An Unbalanced Translocation T(7;12)(Q21.13;Q23.1) Implicates New Candidate Loci For Intellectual Disability And Kallmann Syndrome, Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M. Maas, Yves Lacassie, Soo Hyun Kim, Woo Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol Hee Kim, Lawrence C. Layman, Hyung Goo Kim

School of Medicine Faculty Publications

In a patient diagnosed with both Kallmann syndrome (KS) and intellectual disability (ID), who carried an apparently balanced translocation t(7;12)(q22;q24)dn, array comparative genomic hybridization (aCGH) disclosed a cryptic heterozygous 4.7 Mb deletion del(12)(p11.21p11.23), unrelated to the translocation breakpoint. This novel discovery prompted us to consider the possibility that the combination of KS and neurological disorder in this patient could be attributed to gene(s) within this specific deletion at 12p11.21-12p11.23, rather than disrupted or dysregulated genes at the translocation breakpoints. To further support this hypothesis, we expanded our study by screening five candidate genes at both breakpoints of the chromosomal translocation …

Incorporating Poi As A Therapeutic Modality For Preschool Aged Children In The Care Clinic, Danielle Zirkle

Department of Occupational Therapy Entry-Level Capstone Projects

No abstract provided.

Mid-Life Leukocyte Telomere Length And Dementia Risk: An Observational And Mendelian Randomization Study Of 435,046 Uk Biobank Participants, Rui Liu, Luke C. Pilling, David Melzer, Lihong Wang, Kevin J. Manning, David C. Steffens, Jack Bowden, Richard H. Fortinsky, George A. Kuchel, Taeho G. Rhee, Breno S. Diniz, Chia-Ling Kuo

Health Science Faculty Publications

Telomere attrition is one of biological aging hallmarks and may be intervened to target multiple aging-related diseases, including Alzheimer's disease and Alzheimer's disease related dementias (AD/ADRD). The objective of this study was to assess associations of leukocyte telomere length (TL) with AD/ADRD and early markers of AD/ADRD, including cognitive performance and brain magnetic resonance imaging (MRI) phenotypes. Data from European-ancestry participants in the UK Biobank (n = 435,046) were used to evaluate whether mid-life leukocyte TL is associated with incident AD/ADRD over a mean follow-up of 12.2 years. In a subsample without AD/ADRD and with brain imaging data ( …

The Effect Of Genetic Taste Status On Swallowing: A Literature Review, Theresa S. Lee, Angela M. Dietsch, Rana H. Damra, Rachel W. Mulheren

Department of Special Education and Communication Disorders: Faculty Publications

Purpose

Swallowing and taste share innervation pathways and are crucial to nutritive intake. Individuals vary in their perception of taste due to factors such as genetics; however, it is unclear to what extent genetic taste status influences swallowing physiology and function. The purpose of this review article is to provide background on genetic taste status, review the evidence on the association between genetic taste status and swallowing, and discuss research and clinical implications.

Method

A comprehensive literature review was conducted using search terms related to swallowing and genetic taste status. Studies were included if they investigated the main effect of …

Lifelong Fitness In Ambulatory Children And Adolescents With Cerebral Palsy I: Key Ingredients For Bone And Muscle Health, Noelle G. Moreau, Kathleen M. Friel, Robyn K. Fuchs, Sudarshan Dayanidhi, Theresa Sukal-Moulton, Marybeth Grant-Beuttler, Mark D. Peterson, Richard D. Stevenson, Susan V. Duff

Physical Therapy Faculty Articles and Research

Physical activity of a sufficient amount and intensity is essential to health and the prevention of a sedentary lifestyle in all children as they transition into adolescence and adulthood. While fostering a fit lifestyle in all children can be challenging, it may be even more so for those with cerebral palsy (CP). Evidence suggests that bone and muscle health can improve with targeted exercise programs for children with CP. Yet, it is not clear how musculoskeletal improvements are sustained into adulthood. In this perspective, we introduce key ingredients and guidelines to promote bone and muscle health in ambulatory children with …

Evaluation Of The Orally Bioavailable 4-Phenylbutyrate-Tethered Trichostatin A Analogue Ar42 In Models Of Spinal Muscular Atrophy, Casey J. Lumpkin, Ashlee W. Harris, Andrew J. Connell, Ryan W. Kirk, Joshua A. Whiting, Luciano Saieva, Livio Pellizzoni, Arthur H.M. Burghes, Matthew E.R. Butchbach

Department of Pediatrics Faculty Papers

Proximal spinal muscular atrophy (SMA) is a leading genetic cause for infant death in the world and results from the selective loss of motor neurons in the spinal cord. SMA is a consequence of low levels of SMN protein and small molecules that can increase SMN expression are of considerable interest as potential therapeutics. Previous studies have shown that both 4-phenylbutyrate (4PBA) and trichostatin A (TSA) increase SMN expression in dermal fibroblasts derived from SMA patients. AR42 is a 4PBA-tethered TSA derivative that is a very potent histone deacetylase inhibitor. SMA patient fibroblasts were treated with either AR42, AR19 (a …

Lifelong Fitness In Ambulatory Children And Adolescents With Cerebral Palsy Ii: Influencing The Trajectory, Susan V. Duff, Justine D. Kimbel, Marybeth Grant-Beuttler, Theresa Sukal-Moulton, Noelle G. Moreau, Kathleen M. Friel

Physical Therapy Faculty Articles and Research

Physical activity of at least moderate intensity in all children contributes to higher levels of physical and psychological health. While essential, children with cerebral palsy (CP) often lack the physical capacity, resources, and knowledge to engage in physical activity at a sufficient intensity to optimize health and well-being. Low levels of physical activity place them at risk for declining fitness and health, contributing to a sedentary lifestyle. From this perspective, we describe a framework to foster a lifelong trajectory of fitness in ambulatory children with CP (GMFCS I–III) as they progress into adolescence and adulthood, implemented in conjunction with a …

Genome Editing For Cystic Fibrosis, Guoshun Wang

School of Medicine Faculty Publications

Cystic fibrosis (CF) is a monogenic recessive genetic disorder caused by mutations in the CF Transmembrane-conductance Regulator gene (CFTR). Remarkable progress in basic research has led to the discovery of highly effective CFTR modulators. Now ~90% of CF patients are treatable. However, these modulator therapies are not curative and do not cover the full spectrum of CFTR mutations. Thus, there is a continued need to develop a complete and durable therapy that can treat all CF patients once and for all. As CF is a genetic disease, the ultimate therapy would be in-situ repair of the genetic lesions in the …

Implementing A Hearing Screening Readiness Assessment Tool For Preterm And Term Neonates In The Newborn Intensive Care Unit: A Pilot Project, Mckenzie Blatt, Adrienne Johnson, Jennifer L. Hamilton, Carly Alston, Belinda Chan

Journal of Early Hearing Detection and Intervention

Newborn intensive care unit (NICU) patients are at risk for hearing loss. Early detection mitigates consequences of speech and language delay. The Joint Committee on Infant Hearing (JCIH) recommends hearing screening (HS) on all infants by 1 month of age. Often hearing screening is performed around the time of NICU discharge, often beyond JCIH recommendations. Automated auditory brainstem response (AABR) screening can be performed once an infant reaches 32 to 34 weeks corrected gestational age (GA). Our project aimed to reduce HS delay among NICU infants. We created and implemented a HS assessment tool defining gestational age and medical stability …

Mechanisms Of Mutated Myosin Vb Mediated Cholestasis In Microvillus Inclusion Disease, Melissa S. Holzapfel

Theses & Dissertations

Microvillus inclusion disease (MVID) is a constitutive intestinal epithelial disease which causes definitive intestinal failure and cholestatic liver disease primarily caused by mutations in the Myosin Vb gene. Genotype-clinical phenotype associations suggest that the progression of liver disease can be predicted through a correlation between myosin Vb residual function and variable retention of bile salt transport machinery in intestinal enterocytes and liver hepatocytes. We proposed that aberrant distribution of bile salt transport proteins disrupts enterohepatic regulation of bile acids and contributes to the progression of cholestatic liver disease. To investigate the genotype-phenotype correlation, samples from MVID patients were evaluated for …