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 …

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 …

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 …

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 …

Association Of Prematurity And Urogenital Comorbidities With Postoperative Outcomes Of Ureteroneocystostomy For Vesicoureteral Reflux, Raeann Dalton, Young Son, Edward Wu, Leah Anderton, Matthew Eximond, Lance Earnshaw, Katelyn Klimowich, Gregory Dean

Rowan-Virtua Research Day

Background: It is estimated that 20-30% of congenital anomalies involve the kidney and ureter, and these rates are even higher in infants with low birth weights. Vesicoureteral reflux (VUR) occurs when there is a backflow of urine from the bladder to the kidney. Depending on severity, this condition may require surgical correction with ureteroneocystostomy (UNC). The impact of premature birth and presence of urogenital comorbidities on outcomes of UNC is not known. The objective of this study is to determine the relationship between premature birth and urogenital comorbidities with operative outcomes of UNC for VUR.

Methods: The 2020 American College …

Congenital L-Transposition Of The Great Arteries In A 12-Year-Old: A Case Report, Muhammad Noman

Rowan-Virtua Research Day

Levo-transposition of the great arteries, L-TGA, also known as congenitally corrected transposition, cc-TGA is a rare anomaly and accounts for less than 1% of all congenital heart diseases. It is characterized by both atrioventricular and ventriculoarterial discordance . It is considered a congenitally corrected transposition because the circulation is from right atrium to left ventricle leading to the pulmonary vasculature. The lungs then pump blood into the left atrium to the right ventricle and eventually to the systemic circulation via the aorta.

Attitudes Toward Personal Health Data Sharing Among People Living With Sickle Cell Disorder, Exemplar For Study Of Rare Disease Populations, Rebecca Baines, Sebastian Stevens, Zainab Garba-Sani, Arunangsu Chatterjee, Daniela Austin, Simon Leigh

Journal of Patient-Centered Research and Reviews

Purpose: Rare conditions are often poorly understood, creating barriers in determining the value treatments can provide. This study explored barriers and facilitators to personal health data sharing among those with one particular group of rare hematologic disorders, ie, sickle cell disorder (SCD) and its variants.

Methods: A single online focus group among those > 18 years of age and living with SCD was conducted. Participants (N = 25) were recruited through a United Kingdom-based SCD charity. Discussions were transcribed verbatim, with data therein analyzed using inductive thematic analysis.

Results: Five primary motivators for sharing health data were identified: improving awareness; knowing …

Ablation Of Rare Accessory Pathway From Right Atrial Appendage Diverticulum To Anatomic Left Ventricle In Cc-Tga., Shree Lata Radhakrishnan, Robert Drutel, Cody Williams, Raman Danrad, Kelly Gajewski, Paul A. Lelorier

School of Medicine Faculty Publications

American College of Cardiology Conference ACC.23, March 4 - 6, 2023, New Orleans, LA

Primary Cilia Of The Cardiac Neural Crest & Hedgehog-Mediated Mechanisms Of Congenital Heart Disease, Lindsey A. Fitzsimons

Electronic Theses and Dissertations

Elimination of primary cilia in cardiac neural crest cell (CNCC) progenitors is hypothesized to cause a variety of congenital heart defects (CHDs), including atrioventricular septal defects, and malformations of the developing cardiac outflow tract. We present an in vivo model of CHD resulting from the conditional elimination of primary cilia from CNCC using multiple, Wnt1:Cre-loxP, neural crest-specific systems, targeting two distinctive, but critical, primary cilia structural genes: Intraflagellar transport protein 88 (Ift88) or kinesin family member 3A (Kif3a). CNCC loss of primary cilia leads to widespread CHD, where homozygous mutant embryos (MUT) display a variety of outflow tract malformations, septation …

Fortuitous Diagnosis Of Total Anomalous Pulmonary Venous Return In A Newborn With Hypoglycemia, Joseph Maes, Terence Zach

Child Health Research Institute Pediatric Research Forum

No abstract provided.

Case Report: How A Vallecular Cyst Could Have Become An Airway Emergency, Adam Kandil, Robin Lahr, Andrew Caravello

Rowan-Virtua Research Day

Vallecular cysts, also known as epiglottic mucous retention cysts are known to be generally self-limiting laryngeal lesion. They can however also be associated with airway obstruction, and dysphagia in infants. In adults, they are usually asymptomatic, and usually incidentally diagnosed. At times they are diagnosed during rapid sequence intubation, as they may contribute to endotracheal intubation difficulty. Moreover, there is question as to the correlation between vallecular cysts and the incidence of acute epiglottitis, as a vallecular cyst may become infected and cause a localized expansion of inflammation and infection. This expansion from the vallecula progresses to epiglottis.

The Role Of Pre-Participation Exams In Identifying Student Athletes At Risk For Sudden Cardiac Arrest, Elizabeth Frey

Honors Projects

Sudden cardiac arrest (SCA) is the leading cause of death in young student athletes (Drezner et al., 2007). With athletes being recognized as some of the healthiest members of society, a catastrophic event like this can stimulate debate over pre-participation screening and appropriate emergency actions. With 55-80% cases of sudden cardiac death (SCD) being asymptomatic before the event (Drezner et al., 2007), looking into how well pre-participation screenings identify at risk individuals becomes much more important. This project investigates to what extent pre-participation physicals (PPE) can be improved to better identify student athletes at risk for sudden cardiac death and …

A Rare Combination Of Persistent Left Superior Vena Cava And Partial Anomalous Pulmonary Venous Return, Sang Lee, Bishoy Elbebawy, Neena Joy, George Demosthenes, William Deluccia

Advances in Clinical Medical Research and Healthcare Delivery

A persistent left superior vena cava (LSCV) is a form of anomalous venous drainage of the superior vena cava into the left atrium. We present a case of LSCV and partial anomalous pulmonary venous return (PAPVR) in a patient with progressively worsening dyspnea on exertion. A 57-year-old female with a history of aortic valve stenosis, and tobacco abuse presented with dyspnea on exertion for 4 days. On presentations her vitals were unremarkable except elevated blood pressure and oxygen saturation of 94% on 5L oxygen. Physical exam was pertinent for 3/6 crescendo-decrescendo murmur with a radiation to the right carotid, mild …

In Pursuit: A Mother’S Account Of Her Son’S Rare Disease Diagnosis Journey, Anne M. Jones

Journal of Patient-Centered Research and Reviews

A personal account from a mother’s perspective on her undiagnosed son’s medical journey over almost 6 years toward a diagnosis of a rare genetic variant in mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3) resulting in neurodevelopment disorder.

The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan

University Scholar Projects

The granule cells are the most abundant neuronal type in the human brain. Rapid proliferation of granule cell progenitors results in dramatic expansion and folding of the cerebellar cortex during postnatal development. Mis-regulation of this proliferation process causes medulloblastoma, the most prevalent childhood brain tumor. In the developing cerebellum, granule cells are derived from Atoh1-expressing cells, which arise from the upper rhombic lip (the interface between the roof plate and neuroepithelium). In addition to granule cells, the Atoh1 lineage also gives rise to different types of neurons including cerebellar nuclei neurons. In the current study, I have investigated the …

The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan

Honors Scholar Theses

The granule cells are the most abundant neuronal type in the human brain. Rapid proliferation of granule cell progenitors results in dramatic expansion and folding of the cerebellar cortex during postnatal development. Mis-regulation of this proliferation process causes medulloblastoma, the most prevalent childhood brain tumor. In the developing cerebellum, granule cells are derived from Atoh1-expressing cells, which arise from the upper rhombic lip (the interface between the roof plate and neuroepithelium). In addition to granule cells, the Atoh1 lineage also gives rise to different types of neurons including cerebellar nuclei neurons. In the current study, I have investigated the …

Terson-Like Syndrome Associated With Familial Retinal Arteriolar Tortuosity (Frat) And A Spontaneous Spinal Hemorrhage, Peter Maduka, David R. Lally

Rowan-Virtua Research Day

Background: Familial retinal arteriolar tortuosity (fRAT) is an autosomal dominant disorder that is characterized by tortuosity of the second and third order retinal arterioles in the macular and peripapillary areas. The genetics of fRAT are incompletely understood but have been associated with a missense mutation in the COL4A1 gene in some cases. fRAT is not typically associated with visual loss and prognosis is good. However, the tortuous arterioles can bleed, causing intraretinal, preretinal, and/or subretinal hemorrhages.

Objective: To describe a case of Terson-like syndrome associated with familial retinal arteriolar tortuosity (fRAT) in the setting of spontaneous spinal hemorrhage.

Results: A …

Hippocampal Connectivity In Parkinson's Disease, Landis Llewelyn

Honors Theses

Background: This thesis was conducted in order to investigate possible connections between functional connectivity of the hippocampus in individuals who have Parkinson’s disease.

Methods: The MRI images, the clinical data, and the demographic data of 93 individuals with PD and 18 individuals without PD were obtained from the Parkinson's Progression Markers Initiative. Resting-state fMRI data from a group of PD patients was compared to a control group of non-PD patients by using previously published methods with FMRIB Software Library (FSL) as well as Analysis of Functional Neuroimages (AFNI).

Results: Compared to the control (non-PD) group, results bilaterally showed lesser connectivity …

Use Of Antisense Oligonucleotides To Target Notch2 In Mouse Chondrocytes, Gabrielle Viviana Lanza

Honors Scholar Theses

NOTCH2 is a transmembrane receptor that is part of the Notch receptor family, known for controlling cell differentiation and function. Notch receptors play a crucial role in skeletal development and bone homeostasis. Hajdu Cheney Syndrome (HCS) is a rare monogenic disorder affecting the skeleton caused by a gain-of-function mutation in NOTCH2. Antisense oligonucleotides (ASO) are sequence-specific single-stranded nucleic acids that bind to target mRNA and initiate mRNA degradation. While previous work has explored the role of Notch2 ASOs in osteoblasts and osteoclasts, this paper explores the role of Notch2 and Notch2 ASOs in cells of cartilage tissue. The effect of …

Aortoduodenal Fistula Forms From Primary Aortic Stump Graft In A Two-Time Multi-Visceral Transplant Patient With Presentation Of Gastrointestinal Bleed And Bowel Perforation: A Case Report, Brielle Corrente

Graduate Student Research Symposium

Usually not diagnosed until open laparotomy, aortoduodenalfistulas (ADF) are one of the rarest complications of intestinal transplant surgery. With an incidence rate of only 0.04% at autopsy and only 250 documented cases since the early 1800’s, aortoduodenal fistulas are the most deadly complications of intestinal transplantation with a mortality rate of 100% without surgical intervention. A 39 year old, two-time multi-visceral transplant African American female patient suffered from a primary aortoduodenal fistula formation in a primary modified multi-visceral transplant aortic stump graft site. With emergency open laparotomy repair, revascularization of the secondary multi-visceral transplant was performed, saving the life of …

The Copy Number Variation Landscape Of Congenital Anomalies Of The Kidney And Urinary Tract., Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A. Fasel, Ekaterina Batourina, Matthew G. Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina P. Capone, Asaf Vivante, Shirlee Shril, Byum Hee Kil, Maddalena Marasà, Jun Y. Zhang, Young-Ji Na, Tze Y. Lim, Dina Ahram, Patricia L. Weng, Erin L. Heinzen, Alba Carrea, Giorgio Piaggio, Loreto Gesualdo, Valeria Manca, Giuseppe Masnata, Maddalena Gigante, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E Van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, Pasquale Zamboli, Hope White, Dorota Drozdz, Katarzyna Zachwieja, Monika Miklaszewska, Marcin Tkaczyk, Daria Tomczyk, Anna Krakowska, Przemyslaw Sikora, Tomasz Jarmoliński, Maria K. Borszewska-Kornacka, Robert Pawluch, Maria Szczepanska, Piotr Adamczyk, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, Mark G. Dobson, John M. Darlow, Prem Puri, David E. Barton, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Vladimir J. Lozanovski, Velibor Tasic, Isabella Pisani, Landino Allegri, Lida M. Rodas, Josep M. Campistol, Cécile Jeanpierre, Shumyle Alam, Pasquale Casale, Craig S. Wong, Fangming Lin, Débora M. Miranda, Eduardo A. Oliveira, Ana Cristina Simões-E-Silva, Jonathan M. Barasch, Brynn Levy, Nan Wu, Friedhelm Hildebrandt, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Feng Zhang, Hakon Hakonarson, Virginia E. Papaioannou, Cathy L. Mendelsohn, Ali G. Gharavi, Simone Sanna-Cherchi

Manuscripts, Articles, Book Chapters and Other Papers

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, …

Coarctation Of Aorta In Children., Arpan R. Doshi, Sathish Chikkabyrappa

Manuscripts, Articles, Book Chapters and Other Papers

Coarctation of aorta (CoA) is a discrete narrowing in aorta causing obstruction to the flow of blood. It accounts for 6-8% of all congenital heart diseases. With advances in fetal echocardiography rate of prenatal diagnosis of coarctation of aorta has improved but it still remains a challenging diagnosis to make prenatally. Transthoracic echocardiography is mainstay of making initial diagnosis and routine follow-up. Cardiac magnetic resonance imaging (MRI) and computed tomography (CT) are great advanced imaging tools for two-dimensional and three-dimensional imaging of aortic arch in complex cases. Based on type of coarctation, size of patient, severity of lesion, and associated …

A Multicenter Study To Evaluate Pulmonary Function In Osteogenesis Imperfecta., Allison Tam, Shan Chen, Evan Schauer, Ingo Grafe, Venkata Bandi, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, David Cuthbertson, Jeffrey Krischer, Mary Mullins, Peter H. Byers, Robert A. Sandhaus, Michaela Durigova, Francis H. Glorieux, Frank Rauch, Vernon Reid Sutton, Brendan Lee, Members Of The Brittle Bone Disorders Consortium, Eric T. Rush, Sandesh C S Nagamani

Manuscripts, Articles, Book Chapters and Other Papers

Pulmonary complications are a significant cause for morbidity and mortality in osteogenesis imperfecta (OI). However, to date, there have been few studies that have systematically evaluated pulmonary function in individuals with OI. We analyzed spirometry measurements, including forced vital capacity (FVC) and forced expiratory volume in the first second (FEV₁ ), in a large cohort of individuals with OI (n = 217) enrolled in a multicenter, observational study. We show that individuals with the more severe form of the disease, OI type III, have significantly reduced FVC and FEV₁ which do not follow the expected trends of the …

The Effects Of Tracheal Occlusion On Wnt Signaling In A Rabbit Model Of Congenital Diaphragmatic Hernia, Martina M. Mudri

Electronic Thesis and Dissertation Repository

Purpose: Tracheal occlusion (TO) reverses pulmonary hypoplasia (PH) in congenital diaphragmatic hernia (CDH), but its effect on epithelial-mesenchymal transition (EMT) in lung development remains poorly understood. The purpose of this study was to a) confirm the CDH rabbit model produced PH which was reversed by TO and b) determine the effects of CDH +/- TO on EMT pathways.

Methods: CDH was created at 23 days, TO at 28 days and lung collection at 31 days gestation in fetal rabbits. Lung body weight ratio (LBWR), mean terminal bronchiole density (MTBD), and expression of mRNA and micro-RNA was determined.

Results: Fifteen CDH, …

Case Report: A Hard Cyst To Swallow, Anjalee Choudhury, Joshua Wood, Kristan Diaz-Rios, Jyothi Swarup

School of Medicine Publications and Presentations

One day old neonate was born at 37 weeks gestation to a 41-year-old Gravida 5 Para 5 born via uncomplicated caesarean section. A physical exam of the newborn had unremarkable findings except for minor skin tags on the neck and a cleft palate.

An Eqtl Landscape Of Kidney Tissue In Human Nephrotic Syndrome., Christopher E. Gillies, Rosemary Putler, Rajasree Menon, Edgar Otto, Kalyn Yasutake, Viji Nair, Paul Hoover, David Lieb, Shuqiang Li, Sean Eddy, Damian Fermin, Michelle T. Mcnulty, Nephrotic Syndrome Study Network (Neptune), Nir Hacohen, Krzysztof Kiryluk, Matthias Kretzler, Xiaoquan Wen, Matthew G. Sampson, Tarak Srivastava

Manuscripts, Articles, Book Chapters and Other Papers

Expression quantitative trait loci (eQTL) studies illuminate the genetics of gene expression and, in disease research, can be particularly illuminating when using the tissues directly impacted by the condition. In nephrology, there is a paucity of eQTL studies of human kidney. Here, we used whole-genome sequencing (WGS) and microdissected glomerular (GLOM) and tubulointerstitial (TI) transcriptomes from 187 individuals with nephrotic syndrome (NS) to describe the eQTL landscape in these functionally distinct kidney structures. Using MatrixEQTL, we performed cis-eQTL analysis on GLOM (n = 136) and TI (n = 166). We used the Bayesian "Deterministic Approximation of Posteriors" (DAP) to fine-map …

An Adult With A Remnant Urachus Anomaly Diagnosed In The Emergency Department., Alan Lucerna, James Lee, James Espinosa, Risha Hertz, Victor Scali

Rowan-Virtua School of Osteopathic Medicine Faculty Scholarship

The urachus is a midline tubular structure that stretches from the apex of the bladder and connects to the umbilicus. Urachal remnants result from incomplete regression of the fetal urachus in infancy. We report the case of a 21-year-old male who presented to the emergency department with purulent drainage from his umbilicus in association with a chronic intermittent "pulling sensation" in the umbilicus and suprapubic areas. An infected urachal remnant was diagnosed and was treated with an oral antibiotic and ultimately with outpatient excision of the remnant. Such cases are rare but have the potential to progress to sepsis. In …

Abnormal Dendritic Maturation Of Developing Cortical Neurons Exposed To Corticotropin Releasing Hormone (Crh): Insights Into Effects Of Prenatal Adversity?, Megan M. Curran, Curt A. Sandman, Elyssia Poggi Davis, Laura M. Glynn, Tallie Z. Baram

Psychology Faculty Articles and Research

Corticotropin releasing hormone (CRH) produced by the hypothalamus initiates the hypothalamic- pituitary-adrenal (HPA) axis, which regulates the body's stress response. CRH levels typically are undetectable in human plasma, but during pregnancy the primate placenta synthesizes and releases large amounts of CRH into both maternal and fetal circulations. Notably, placental CRH synthesis increases in response to maternal stress signals. There is evidence that human fetal exposure to high concentrations of placental CRH is associated with behavioral consequences during infancy and into childhood, however the direct effects on of the peptide on the human brain are unknown. In this study, we used …

Role Of Biomechanical Forces In Hyperfiltration-Mediated Glomerular Injury In Congenital Anomalies Of The Kidney And Urinary Tract., Tarak Srivastava, Ganesh Thiagarajan, Uri S. Alon, Ram Sharma, Ashraf El-Meanawy, Ellen T. Mccarthy, Virginia J. Savin, Mukut Sharma

Manuscripts, Articles, Book Chapters and Other Papers

Congenital anomalies of the kidney and urinary tract (CAKUT) including solitary kidney constitute the main cause of progressive chronic kidney disease (CKD) in children. Children born with CAKUT develop signs of CKD only during adolescence and do not respond to renin-angiotensin-aldosterone system blockers. Early cellular changes underlying CKD progression to end-stage renal disease by early adulthood are not well understood. The mechanism of maladaptive hyperfiltration that occurs from loss of functional nephrons, including solitary kidney, is not clear. We re-examine the phenomenon of hyperfiltration in the context of biomechanical forces with special reference to glomerular podocytes. Capillary stretch exerts tensile …