Pediatrics Commons^™

An Optimized O9-1/Hydrogel System For Studying Mechanical Signals In Neural Crest Cells, Tram P Le, Xiaolei Zhao, Shannon Erhardt, Jianhua Gu, Huie Wang, Tina O Findley, Jun Wang

Faculty, Staff and Student Publications

Neural crest cells (NCCs) are vertebrate embryonic multipotent cells that can migrate and differentiate into a wide array of cell types that give rise to various organs and tissues. Tissue stiffness produces mechanical force, a physical cue that plays a critical role in NCC differentiation; however, the mechanism remains unclear. The method described here provides detailed information for the optimized generation of polyacrylamide hydrogels of varying stiffness, the accurate measurement of such stiffness, and the evaluation of the impact of mechanical signals in O9-1 cells, a NCC line that mimics in vivo NCCs.

Hydrogel stiffness was measured using atomic force …

Occlusive Pulmonary Artery Thrombosis In A Healthy Neonate With No Identifiable Risk Factors, Cynthia Laviolette, Jason Turner, Latasha Lewis, Song-Gui Yang, Tim Pettitt, Kurt D Piggott

Faculty, Staff and Student Publications

Pulmonary artery thrombosis is reported in neonates with risk factors for hypercoagulability. No consensus exists regarding standard therapy for this condition. We present a neonate, with no risk factors for thrombosis, who was admitted after birth to the Pediatric Cardiac Intensive Care Unit with an occlusive left pulmonary artery thrombus.

The Design And Rationale Of A Multicenter Real-World Trial: The Southeastern Collaboration To Improve Blood Pressure Control In The Us Black Belt – Addressing The Triple Threat, Tina O Findley, Hope Northrup

Faculty, Staff and Student Publications

The incidence of congenital heart defect (CHD) has increased over the past fifty years, partly attributed to routine fetal anatomical examination by sonography during obstetric care and improvements in ultrasound technology and technique. Fetal findings on ultrasound in addition to maternal biomarkers are the backbone of first- and second-trimester screening for common genetic conditions, namely aneuploidy. Since the introduction of non-invasive prenatal testing (NIPT) using next-generation sequencing to sequence cell-free fetal DNA, the detection rate of common trisomies as well as sex chromosomal aneuploidies have markedly increased. As the use of NIPT continues to broaden, the best means of incorporating …

The Cgas–Sting Pathway In Diabetic Retinopathy And Age-Related Macular Degeneration, Shannon Erhardt, Mingjie Zheng, Xiaolei Zhao, Tram P Le, Tina O Findley, Jun Wang

Faculty, Staff and Student Publications

The neural crest (NC) is a multipotent and temporarily migratory cell population stemming from the dorsal neural tube during vertebrate embryogenesis. Cardiac neural crest cells (NCCs), a specified subpopulation of the NC, are vital for normal cardiovascular development, as they significantly contribute to the pharyngeal arch arteries, the developing cardiac outflow tract (OFT), cardiac valves, and interventricular septum. Various signaling pathways are shown to orchestrate the proper migration, compaction, and differentiation of cardiac NCCs during cardiovascular development. Any loss or dysregulation of signaling pathways in cardiac NCCs can lead to abnormal cardiovascular development during embryogenesis, resulting in abnormalities categorized as …

White Matter Disruption In Pediatric Traumatic Brain Injury: Results From Enigma Pediatric Moderate To Severe Traumatic Brain Injury, Emily L Dennis, Karen Caeyenberghs, Kristen R Hoskinson, Tricia L Merkley, Stacy J Suskauer, Robert F Asarnow, Talin Babikian, Brenda Bartnik-Olson, Kevin Bickart, Erin D Bigler, Linda Ewing-Cobbs, Anthony Figaji, Christopher C Giza, Naomi J Goodrich-Hunsaker, Cooper B Hodges, Elizabeth S Hovenden, Andrei Irimia, Marsh Königs, Harvey S Levin, Hannah M Lindsey, Jeffrey E Max, Mary R Newsome, Alexander Olsen, Nicholas P Ryan, Adam T Schmidt, Matthew S Spruiell, Benjamin S C Wade, Ashley L Ware, Christopher G Watson, Anne L Wheeler, Keith Owen Yeates, Brandon A Zielinski, Peter Kochunov, Neda Jahanshad, Paul M Thompson, David F Tate, Elisabeth A Wilde

Faculty, Staff and Student Publications

OBJECTIVE: Our study addressed aims (1) to test the hypothesis that moderate-severe traumatic brain injury (TBI) in pediatric patients is associated with widespread white matter (WM) disruption, (2) to test the hypothesis that age and sex affect WM organization after injury, and (3) to examine associations between WM organization and neurobehavioral outcomes.

METHODS: Data from 10 previously enrolled, existing cohorts recruited from local hospitals and clinics were shared with the Enhancing NeuroImaging Genetics Through Meta-Analysis (ENIGMA) Pediatric Moderate/Severe TBI (msTBI) working group. We conducted a coordinated analysis of diffusion MRI (dMRI) data using the ENIGMA dMRI processing pipeline.

RESULTS: Five …

Therapeutic Efficacy Of A Potent Anti-Venezuelan Equine Encephalitis Virus Antibody Is Contingent On Fc Effector Function, Vanja Krneta-Stankic, Mark E Corkins, Adriana Paulucci-Holthauzen, Malgorzata Kloc, Andrew B Gladden, Rachel K Miller

Faculty, Staff and Student Publications

E-cadherin junctions facilitate assembly and disassembly of cell contacts that drive development and homeostasis of epithelial tissues. In this study, using Xenopus embryonic kidney and Madin-Darby canine kidney (MDCK) cells, we investigate the role of the Wnt/planar cell polarity (PCP) formin Daam1 (Dishevelled-associated activator of morphogenesis 1) in regulating E-cadherin-based intercellular adhesion. Using live imaging, we show that Daam1 localizes to newly formed cell contacts in the developing nephron. Furthermore, analyses of junctional filamentous actin (F-actin) upon Daam1 depletion indicate decreased microfilament localization and slowed turnover. We also show that Daam1 is necessary for efficient and timely localization of junctional …

Trends In Race/Ethnicity Of Pediatric Residents And Fellows: 2007-2019, Kimberly Montez, Emma A Omoruyi, Kenya Mcneal-Trice, Wendy J Mack, Lahia Yemane, Alissa R Darden, Christopher J Russell

Faculty, Staff and Student Publications

BACKGROUND AND OBJECTIVES: A diverse pediatric workforce reflecting the racial/ethnic representation of the US population is an important factor in eliminating health inequities. Studies reveal minimal improvements over time in the proportions of underrepresented in medicine (URiM) physicians; however, studies assessing trends in pediatric URiM trainee representation are limited. Our objective was to evaluate longitudinal trends in racial/ethnic representation among a cross-section of US pediatric trainees and to compare it to the US population.

METHODS: Repeated cross-sectional study of graduate medical education census data on self-reported race/ethnicity of pediatric residents and subspecialty fellows from 2007 to 2019. To evaluate trends …

Inferior Turbinate Hypertrophy Presenting As Bilateral Nasal Masses In A Paediatric Patient, Nicholas Armando Rossi, Megan L Swonke, Shiva Daram

Faculty, Staff and Student Publications

No abstract provided.

Distraction Osteogenesis With Temporal Bone Remodeling For Unicoronal Craniosynostosis, Phuong D Nguyen, Ahmed Belal, George N Washington, Matthew R Greives, David I Sandberg, Stephen A Fletcher, Manish N Shah

Faculty, Staff and Student Publications

Unicoronal craniosynostosis correction with fronto-orbital advancement and cranial vault remodeling has traditionally been the gold standard. Distraction osteogenesis has the advantage of increased size of movement without constriction of the scalp and decreased morbidity. Although fronto-orbital advancement and cranial vault remodeling are usually performed at 6 months of age or later, distraction osteogenesis is performed at a younger age, between 3 and 6 months, to take advantage of the infant bony physiology. Herein, the authors demonstrate a case of distraction osteogenesis for unicoronal craniosynostosis in a 3-month-old female with significant improvement of her orbital, nasal, and frontal symmetry.

The video …

Hemorrhagic Giant Cell Tumor Of The Occipital Skull Base: A Case Report And Literature Review, Cihan Kadipasaoglu, Andrew Wahba, Meenakshi B Bhattacharjee, Branko Cuglievan, Stephen A Fletcher

Faculty, Staff and Student Publications

Giant cell tumor of bone is a benign but locally aggressive osteolytic neoplasm that represents 3% to 5% of all primary bone tumors, primarily found at the epiphyses of long bones. Less than 1% are of calvarial origin. Herein, we report a rare case of a nine-year-old girl with a hemorrhagic giant cell tumor of the left occipital skull base.

In Vivo Transplantation Of Human Intestinal Organoids Enhances Select Tight Junction Gene Expression, Mariaelena A Boyle, David J Sequeira, Eoin P Mcneill, Zachary K Criss, Noah F Shroyer, Allison L Speer

Faculty, Staff and Student Publications

BACKGROUND: Short bowel syndrome is a potentially fatal condition with inadequate management options. Tissue-engineered small intestine (TESI) is a promising solution, but confirmation of TESI function will be crucial before human application. We sought to define intestinal epithelial barrier function in human intestinal organoid (HIO)-derived TESI.

MATERIALS AND METHODS: HIOs were generated in vitro from human embryonic stem cells. After 1 mo, HIOs were collected for analysis or transplanted into the kidney capsule of immunocompromised mice. Transplanted HIOs (tHIOs) were harvested for analysis at 4 or 8 wk. Reverse transcription quantitative polymerase chain reaction and immunofluorescent staining were performed for …

Prevalence Of Functional Limitation In Covid-19 Recovered Patients Using The Post Covid-19 Functional Status Scale, Pankaj Pant, Aishana Joshi, Babin Basnet, Bibek Man Shrestha, Navindra Raj Bista, Niraj Bam, Santa Kumar Das

Faculty, Staff and Student Publications

INTRODUCTION: COVID-19 is an emerging global health pandemic causing tremendous morbidity and mortality worldwide. Chronic symptoms progressing to poor functional status have been reported in a substantial proportion of COVID-19 patients worldwide. This study aimed to determine the prevalence of functional limitation in COVID-19 recovered patients using the post-COVID-19 functional status scale.

METHODS: A descriptive cross-sectional study was conducted at Tribhuvan University Teaching Hospital. COVID-19 recovered patients with reverse transcription-polymerase chain reaction negative status were included and assessed using the post-COVID-19 functional status scale. Data entry and analysis was done in Statistical Package for the Social Sciences version 20.0. Descriptive …

Extensive Mycobacterium Abscessus Pneumonia In An Immunocompetent Infant With No Underlying Lung Pathology, Morouge M Alramadhan, James R Murphy, Michael L Chang

Faculty, Staff and Student Publications

Pulmonary infection due to Mycobacterium abscessus occurs in patients with cystic fibrosis, but rarely in immunocompetent children without underlying lung pathology. Treatment is complicated by frequent resistance to many antibiotics. We present a case report of a 4-month-old female infant with 2 months of cough, difficulty feeding, and failure to thrive, with extensive culture-confirmed M. abscessus pulmonary infection without identified immunodeficiency or underlying lung pathology following multidisciplinary evaluation. We describe our complete evaluation including immunodeficiency evaluation incorporating whole-exome sequencing, describe our antibiotic selection and treatment duration given complicated susceptibility pattern of the M. abscessus isolate, and review literature for nontuberculous …

“Doing What I Can, But I Got No Magic Wand:” A Snapshot Of Early Childhood Educator Experiences And Efforts To Ensure Quality During The Covid-19 Pandemic, April Crawford, Kelly A Vaughn, Cathy L Guttentag, Cheryl Varghese, Yoonkyung Oh, Tricia A Zucker

Faculty, Staff and Student Publications

The COVID-19 pandemic impacted early childhood programs serving infants, toddlers, and preschoolers in dramatic ways. After temporarily closing, many educators quickly adapted their procedures to ensure children's safety as they reopened to provide childcare for essential workers and then the community at large. This manuscript reports on statewide efforts to continue quality improvement initiatives for early childhood programs amidst the COVID-19 pandemic. We first describe the impacts of the COVID-19 pandemic for over 2000 educators-teachers, administrators, and specialists-who completed surveys in the Spring and Fall of 2020. These survey data come from a statewide system called the Texas Early Childhood …

The Effects Of Combined Transcranial Brain Stimulation And A 4-Week Visuomotor Stepping Training On Voluntary Step Initiation In Persons With Chronic Stroke-A Pilot Study, Ira H Gewolb, Babatunde T Sobowale, Frank L Vice, Abhijit Patwardhan, Nino Solomonia, Eric W Reynolds

Faculty, Staff and Student Publications

Background: Suck-swallow rhythmicity and the integration of breathing into infant feeding are developmentally regulated. Neurological injury and breathing abnormalities can both impact feeding in preterm infants.

Objective: To determine the effects of neurologic injury independent of effects of disordered breathing on feeding biorhythms in premature infants.

Methods: Low-risk preterm infants (LRP), infants with Grade 3–4 Intraventricular Hemorrhage (IVH), those with bronchopulmonary dysplasia (BPD), and those with both BPD and IVH (BPD+IVH) were identified. Forty-seven infants, 32–42 weeks Postmenstrual Age (PMA) were evaluated on one or more occasions (131 studies). Of these, 39 infants (81 studies) were performed at >35 weeks …

Orthostatic Headaches Associated With Spontaneous Intracranial Hypotension And Autonomic Dysfunction-A Case Series In Young Patients, Ankita Ghosh, Yen X Tran, Leon Grant, Mohammed T Numan, Rajan Patel, Ian J Butler

Faculty, Staff and Student Publications

Background: Orthostatic headaches can be noted in spontaneous intracranial hypotension and orthostatic intolerance. We present a case series of young patients diagnosed with spontaneous intracranial hypotension and were treated for the same but subsequently developed orthostatic intolerance. Methods: We retrospectively reviewed charts for seven young patients with orthostatic headaches related to spontaneous intracranial hypotension and orthostatic intolerance. Results: Patients were diagnosed with spontaneous intracranial hypotension. Diagnosis was confirmed by identifying epidural contrast leakage and three of seven patients were noted to have early renal contrast excretion on computerized tomography myelography. Patients were treated with epidural blood patches. All patients showed …

Pediatric Thalassemic Patients Have Higher Incidence Of Asthma: A Nationwide Population-Based Retrospective Cohort Study, Hsin-Yi Hsieh, Lin-Chi Huang, Hong-Ren Yu, Kuang-Che Kuo, Wan-Hsuan Chen, Chung-Hao Su, Chuan-Pin Lee, Ko-Jung Chen, Yao-Hsu Yang, Jiunn-Ming Sheen

Faculty, Staff and Student Publications

INTRODUCTION: Patients with hemoglobinopathies have been reported to have higher rates of pulmonary complications. Few studies have investigated the association between thalassemia and asthma in children.

METHODS: We used the data of one million individuals randomly selected from the Registry for Beneficiaries of the National Health Insurance Research Database. One thalassemic child was matched with four control children without thalassemia according to sex, birth year, birth season, prematurity, and previous enteroviral infection.

RESULTS: A total of 800 hundred thalassemic children and 3200 controls were included. Children with thalassemia had higher rates of developing asthma (41.81 vs 25.70 per 1000 person-years, …

Can Erythropoietin Reduce Hypoxemic Neurological Damages In Neonates With Congenital Heart Defects?, Sara Ottolenghi, Giuseppina Milano, Michele Dei Cas, Tina O Findley, Rita Paroni, Antonio F Corno

Faculty, Staff and Student Publications

Congenital heart defects (CHD), the most common cause of birth defects with increasing birth prevalence, affect nearly 1% of live births worldwide. Cyanotic CHD are characterized by hypoxemia, with subsequent reduced oxygen delivery to the brain, especially critical during brain development, beginning in the fetus and continuing through the neonatal period. Therefore, neonates with CHD carry a high risk for neurological comorbidities, even more frequently when there are associated underlying genetic disorders. We review the currently available knowledge on potential prevention strategies to reduce brain damage induced by hypoxemia during fetal development and immediately after birth, and the role of …

A Preliminary Dti Tractography Study Of Developmental Neuroplasticity 5–15 Years After Early Childhood Traumatic Brain Injury, Elisabeth A Wilde, Ilirjana Hyseni, Hannah M Lindsey, Jessica Faber, James M Mchenry, Erin D Bigler, Brian D Biekman, Laura L Hollowell, Stephen R Mccauley, Jill V Hunter, Linda Ewing-Cobbs, Mary E Aitken, Marianne Macleod, Zili D Chu, Linda J Noble-Haeusslein, Harvey S Levin

Faculty, Staff and Student Publications

Plasticity is often implicated as a reparative mechanism when addressing structural and functional brain development in young children following traumatic brain injury (TBI); however, conventional imaging methods may not capture the complexities of post-trauma development. The present study examined the cingulum bundles and perforant pathways using diffusion tensor imaging (DTI) in 21 children and adolescents (ages 10-18 years) 5-15 years after sustaining early childhood TBI in comparison with 19 demographically-matched typically-developing children. Verbal memory and executive functioning were also evaluated and analyzed in relation to DTI metrics. Beyond the expected direction of quantitative DTI metrics in the TBI group, we …

Cost Efficacy Of Rapid Whole Genome Sequencing In The Pediatric Intensive Care Unit, Erica Sanford Kobayashi, Bryce Waldman, Branden M Engorn, Katherine Perofsky, Erika Allred, Benjamin Briggs, Chelsea Gatcliffe, Nanda Ramchandar, Jeffrey J Gold, Ami Doshi, Elizabeth G Ingulli, Courtney D Thornburg, Wendy Benson, Lauge Farnaes, Shimul Chowdhury, Seema Rego, Charlotte Hobbs, Stephen F Kingsmore, David P Dimmock, Nicole G Coufal

Faculty, Staff and Student Publications

The diagnostic and clinical utility of rapid whole genome sequencing (rWGS) for critically ill children in the intensive care unit (ICU) has been substantiated by multiple studies, but comprehensive cost-effectiveness evaluation of rWGS in the ICU outside of the neonatal age group is lacking. In this study, we examined cost data retrospectively for a cohort of 38 children in a regional pediatric ICU (PICU) who received rWGS. We identified seven of 17 patients who received molecular diagnoses by rWGS and had resultant changes in clinical management with sufficient clarity to permit cost and quality adjusted life years (QALY) modeling. Cost …

As Time Goes By: Understanding Child And Family Factors Shaping Behavioral Outcomes After Traumatic Brain Injury, Linda Ewing-Cobbs, Janelle J Montroy, Amy E Clark, Richard Holubkov, Charles S Cox, Heather T Keenan

Faculty, Staff and Student Publications

Objective: To model pre-injury child and family factors associated with the trajectory of internalizing and externalizing behavior problems across the first 3 years in children with pediatric traumatic brain injury (TBI) relative to children with orthopedic injuries (OI). Parent-reported emotional symptoms and conduct problems were expected to have unique and shared predictors. We hypothesized that TBI, female sex, greater pre-injury executive dysfunction, adjustment problems, lower income, and family dysfunction would be associated with less favorable outcomes.

Methods: In a prospective longitudinal cohort study, we examined the level of behavior problems at 12 months after injury and rate of change from …

Hippo-Yap Pathway Orchestrates Neural Crest Ontogenesis, Xiaolei Zhao, Tram P Le, Shannon Erhardt, Tina O Findley, Jun Wang

Faculty, Staff and Student Publications

Neural crest (NC) cells are a migratory stem cell population in vertebrate embryogenesis that can give rise to multiple cell types, including osteoblasts, chondrocytes, smooth muscle cells, neurons, glia, and melanocytes, greatly contributing to the development of different tissues and organs. Defects in NC development are implicated in many human diseases, such as numerous syndromes, craniofacial aberration and congenital heart defects. Research on NC development has gained intense interest and made significant progress. Recent studies showed that the Hippo-Yap pathway, a conserved fundamental pathway with key roles in regulation of cell proliferation, survival, and differentiation, is indispensable for normal NC …

Recognizing A Mis-Chievous Cause Of Acute Viral Gastroenteritis, Rohit Josyabhatla, Ankur A Kamdar, Shabba A Armbrister, Rhea Daniel, Konstantinos Boukas, Keely G Smith, Melissa R Van Arsdall, Kokila Kakarala, Anthony R Flores, Audrey Wanger, Yuying Liu, Jon Marc Rhoads

Faculty, Staff and Student Publications

Historically, children evaluated for vomiting and diarrhea secondary to viral enteritis have symptoms lasting 2-4 days and respond to supportive care, including oral rehydration and anti-emetics if required. Recently, within a 14-day timespan, we encountered three children with severe diarrhea who rapidly became dehydrated and went into hypotensive shock. Although SARS-CoV-2 molecular tests were negative by nasopharyngeal swab, all were later found to have MIS-C. This small case series underscores features reported in previous larger studies and emphasizes the rapid clinical evolution of this condition. We highlight the importance of early recognition of cardinal laboratory findings characteristic of MIS-C (i.e., …

Indications For Inpatient Magnetoencephalography In Children - An Institution's Experience, Michael W Watkins, Ekta G Shah, Michael E Funke, Stephanie Garcia-Tarodo, Manish N Shah, Nitin Tandon, Fernando Maestu, Christopher Laohathai, David I Sandberg, Jeremy Lankford, Stephen Thompson, John Mosher, Gretchen Von Allmen

Faculty, Staff and Student Publications

Magnetoencephalography (MEG) is recognized as a valuable non-invasive clinical method for localization of the epileptogenic zone and critical functional areas, as part of a pre-surgical evaluation for patients with pharmaco-resistant epilepsy. MEG is also useful in localizing functional areas as part of pre-surgical planning for tumor resection. MEG is usually performed in an outpatient setting, as one part of an evaluation that can include a variety of other testing modalities including 3-Tesla MRI and inpatient video-electroencephalography monitoring. In some clinical circumstances, however, completion of the MEG as an inpatient can provide crucial ictal or interictal localization data during an ongoing …

Clonidine For The Treatment Of Agitation After Dexmedetomidine Discontinuation In Pediatric Patients: A Retrospective Cohort Study, Thao L Nguyen, Weng Man Lam, Hillary Orr, Brian Gulbis, Riza Mauricio, Eric Tom, Vinai M Modem, Alvaro Coronado-Munoz

Faculty, Staff and Student Publications

OBJECTIVE: Dexmedetomidine has become a widely used drug in PICUs for sedation. We aim to determine the effects of clonidine on pediatric patients after dexmedetomidine use.

METHODS: This was a retrospective cohort study that evaluated all pediatric patients admitted to a tertiary PICU who received dexmedetomidine infusion for >48 hours. Outcomes in patients exposed to clonidine (CLON) were compared with those of patients who were not exposed (NoCLON).

RESULTS: A total of 216 patients were included in this study (43 CLON and 173 NoCLON). The primary outcome, agitation, was less in the CLON cohort (9.3%) than in the NoCLON cohort …

Correlation Between Concentrations Of Four Heavy Metals In Cord Blood And Childhood Blood Of Jamaican Children, Mohammad H Rahbar, Maureen Samms-Vaughan, Manouchehr Hessabi, Jan Bressler, Shezeen Gillani, Megan L Grove, Sydonnie Shakspeare-Pellington, Katherine A Loveland

Faculty, Staff and Student Publications

This study investigated whether the concentrations of four metals [lead (Pb), mercury (Hg), manganese (Mn), and aluminum (Al)] are correlated in cord blood and childhood blood samples from Jamaican children. Cord blood samples were obtained from 21 pregnant women enrolled in the second Jamaican Birth Cohort Study from July 1, 2011 to September 30, 2011, and blood samples were drawn from their children who participated in a follow up study when the children were 4–8 years old. Correlations were assessed by the Pearson or the Spearman’s rank correlation coefficient. The mean ages of children at the childhood visit and their …

Epilepsy Risk Prediction Model For Patients With Tuberous Sclerosis Complex, Laura S Farach, Melissa A Richard, Philip J Lupo, Mustafa Sahin, Darcy A Krueger, Joyce Y Wu, Elizabeth M Bebin, Kit Sing Au, Hope Northrup, Tacern Study Group

Faculty, Staff and Student Publications

BACKGROUND: Individuals with tuberous sclerosis complex are at increased risk of epilepsy. Early seizure control improves developmental outcomes, making identifying at-risk patients critically important. Despite several identified risk factors, it remains difficult to predict. The purpose of the study was to evaluate the combined risk prediction of previously identified risk factors for epilepsy in individuals with tuberous sclerosis complex.

METHODS: The study group (n = 333) consisted of individuals with tuberous sclerosis complex who were enrolled in the Tuberous Sclerosis Complex Autism Center of Excellence Research Network and UT TSC Biobank. The outcome was defined as having an epilepsy diagnosis. …

Social And Leisure Activities Predict Transitions In Cognitive Functioning In Older Mexican Adults: A Latent Transition Analysis Of The Mexican Health And Aging Study, Heather Mary Brown, Stephen A Murray, Hope Northrup, Kit Sing Au, Lee A Niswander

Faculty, Staff and Student Publications

Disruptions in neural tube (NT) closure result in neural tube defects (NTDs). To understand the molecular processes required for mammalian NT closure, we investigated the role of Snx3, a sorting nexin gene. Snx3−/− mutant mouse embryos display a fully-penetrant cranial NTD. In vivo, we observed decreased canonical WNT target gene expression in the cranial neural epithelium of the Snx3−/− embryos and a defect in convergent extension of the neural epithelium. Snx3−/− cells show decreased WNT secretion, and live cell imaging reveals aberrant recycling of the WNT ligand-binding protein WLS and mis-trafficking to the lysosome for degradation. The importance …

Identification Of Novel Candidate Risk Genes For Myelomeningocele Within The Glucose Homeostasis/Oxidative Stress And Folate/One-Carbon Metabolism Networks, Paul Hillman, Craig Baker, Luke Hebert, Michael Brown, James Hixson, Allison Ashley-Koch, Alanna C Morrison, Hope Northrup, Kit Sing Au

Faculty, Staff and Student Publications

BACKGROUND: Neural tube defects (NTDs) are the second most common complex birth defect, yet, our understanding of the genetic contribution to their development remains incomplete. Two environmental factors associated with NTDs are Folate and One Carbon Metabolism (FOCM) and Glucose Homeostasis and Oxidative Stress (GHOS). Utilizing next-generation sequencing of a large patient cohort, we identify novel candidate genes in these two networks to provide insights into NTD mechanisms.

METHODS: Exome sequencing (ES) was performed in 511 patients, born with myelomeningocele, divided between European American and Mexican American ethnicities. Healthy control data from the Genome Aggregation database were ethnically matched and …

Outcomes After In Utero Myelomeningocele Repair Based On Delivery Location, Eric P Bergh, Kuojen Tsao, Mary T Austin, Stephen A Fletcher, Suzanne M Lopez, Kenneth J Moise, Anthony Johnson, Ramesha Papanna

Faculty, Staff and Student Publications

Maternal and pediatric delivery outcomes may vary in patients who underwent open fetal myelomeningocele repair and elected to deliver at the fetal center where their fetal intervention was performed versus at the referring physician’s hospital. A prospective cohort study of 88 patients were evaluated following in utero open fetal myelomeningocele repair at a single fetal center between the years 2011–2019. Exclusion criteria included patients that delivered within two weeks of the procedure (n = 6), or if a patient was lost to follow-up (n = 1). Of 82 patients meeting inclusion criteria, 36 (44%) patients were delivered at …