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

Integument: Guidelines For The Care Of People With Spina Bifida, Patricia Beierwaltes, Sharon Munoz, Jennifer Wilhelmy

School of Nursing Publications

PURPOSE:

Skin-related issues have a significant impact on health, activities of daily living, and quality of life among people with spina bifida. Data presented by select clinics that participate in the National Spina Bifida Patient Registry reported that 26% of individuals had a history of pressure injuries with 19% having had one in the past year. The spina bifida community lack direct guidelines on prevention of these and other skin related issues. The Integument (skin) Guidelines focus on prevention, not treatment, of existing problems.

METHODS:

Using a consensus building methodology, the guidelines were written by experts in spina bifida and …

Bowel Function And Care - Guidelines For The Care Of People With Spina Bifida, Patricia Beierwaltes, Paige Church, Tiffany Gordon, Lusine Ambartsumyan

School of Nursing Publications

PURPOSE:

Bowel dysfunction, such as constipation and fecal incontinence, has a significant impact on health, activities of daily living, and quality of life among people with spina bifida. Secondary complications may result from bowel dysfunction and include urologic dysfunction, loss of skin integrity, shunt (hydrocephalus) function, as well as loss of social opportunities and employability.

METHODS:

Using a consensus building methodology, the guidelines for management of bowel dysfunction in spina bifida were written by experts in the field of spina bifida and bowel function and care.

RESULTS:

The evidence-based guidelines are presented in table format and provide age-specific recommendations to …

Care Coordination Guidelines For The Care Of People With Spina Bifida, Alexander Van Speybroeck, Patricia Beierwaltes, Betsy Hopson, Suzanne Mckee, Lisa Raman, Ravindra Rao, Rebecca Sherlock

School of Nursing Publications

Care coordination is the deliberate organization of patient care activities between two or more participants (including the patient) involved in a person’s care to facilitate the appropriate delivery of health care services. Organizing care involves the marshalling of personnel and other resources needed to carry out all required patient care activities. It is often managed by the exchange of information among participants responsible for different aspects of care. With an estimated 85% of individuals with Spina Bifida (SB) surviving to adulthood, SB specific care coordination guidelines are warranted. Care coordination (also described as case management services) is a process that …

The Effects Of Maternal Delta-9-Tetrahydrocannabinol And Cannabidiol Exposure On Fetal Heart Development In Mice, Gregory Robinson

Electronic Thesis and Dissertation Repository

Up to 22.6% of pregnant women consume cannabis during pregnancy despite the uncertainty of teratogenicity of the main ingredients in cannabis, delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD). This study tested the hypothesis that gestational THC and CBD exposure leads to heart abnormalities. Daily, oral THC exposure induced heart abnormalities in 68% of offspring with three main phenotypes including thickened semilunar valves, ventricular myocardial hypertrophy and hypoplastic coronary arteries in fetuses, and postnatal cardiac dysfunction. Altered gene expression of key cardiogenic regulators, increased proliferation, and reduced epicardial epithelial-to-mesenchymal-transition were demonstrated implicating potential mechanisms responsible for these abnormalities. Also, maternal CBD exposure resulted …

Beyond The Eye: The Neural Signature Of Cerebral Visual Processing In Children With Cerebral Palsy, Jacy R. Hannan

Theses & Dissertations

Cerebral palsy (CP) is a permanent, non-progressive neuromuscular disorder diagnosed early in childhood. Frequently the lesion that causes the motor impairments in individuals with CP concurrently disrupts the visual networks, placing them at a high risk of cerebral visual dysfunctions. Cerebral visual impairment (CVI) often remains unrecognized or misdiagnosed in people with CP. Despite the crucial role of visual function in the development of movement and cognition, the neurophysiological basis of the cerebral visual dysfunctions is almost entirely unknown. This investigation aimed to examine the neurophysiological mechanisms underlying cerebral visual dysfunction in children with CP. Specifically, this research used magnetoencephalographic …

Efficacy Of The Nutritional Supplement, Evenflo, In The Management Of Sickle Cell Disease: A Randomized Controlled Trial, Richard Muga, Arthur Ajwang, James Ouma, Josephine Ojigo, Juliana Otieno, Peter Okoth, Caroline Wafula, Sophia Ajwang, David Ogolla, Abraham Hollist, James Adefisoye

Nursing & Health Sciences Research Journal

Background: In this study, we investigated if a combination of the nutraceutical supplement, EvenFlo and folic acid will be superior to the standard stand-alone use of folic acid.

Methods: We conducted a randomized double-blind, active-controlled, clinical trial. A total of 70 subjects with SCD ages 5-12 years were enrolled into the study with 35 in the intervention group and 35 in the control group; 61 completed the trial (32 from the intervention group and 29 from the control group).

Results: Participants in the intervention group were significantly less likely to experience crises compared to subjects in the control group. None …

Managing May-Thurner Syndrome And Associated Complications Throughout Pregnancy And Postpartum, Jessica A. Young, Stephen Zweibach, Nicole L. Plenty, Tiffany Tonismae

OB-GYN

No abstract provided.

Early Impact Of The Covid-19 Pandemic On Congenital Heart Surgery Programs Across The World: Assessment By A Global Multi-Societal Consortium., Eleftherios M. Protopapas, Mauro Lo Rito, Vladimiro L. Vida, George E. Sarris, Christo I. Tchervenkov, Bohdan J. Maruszewski, Zdzislaw Tobota, Bistra Zheleva, Hao Zhang, Jeffery P. Jacobs, Joseph A. Dearani, Elizabeth H. Stephens, James S. Tweddell, Nestor F. Sandoval, Emile A. Bacha, Erle H. Austin, Kisaburo Sakamoto, Sachin Talwar, Hiromi Kurosawa, Zohair Y Al Halees, Marcello B. Jatene, Krishna S. Iyer, Cheul Lee, Rajesh Sharma, Yasutaka Hirata, Frank Edwin, Jorge L. Cervantes, James O'Brien, James D. St Louis, James K. Kirklin, Covid-19 International Congenital Heart Surgery Taskforce

Manuscripts, Articles, Book Chapters and Other Papers

The coronavirus disease 2019 (COVID-19) pandemic currently gripping the globe is impacting the entire health care system with rapidly escalating morbidities and mortality. Although the infectious risk to the pediatric population appears low, the effects on children with congenital heart disease (CHD) remain poorly understood. The closure of congenital heart surgery programs worldwide to address the growing number of infected individuals could have an unintended impact on future health for COVID-19-negative patients with CHD. Pediatric and congenital heart surgeons, given their small numbers and close relationships, are uniquely positioned to collectively assess the impact of the pandemic on surgical practice …

South Dakota Parents’ Knowledge Of Congenital Cytomegalovirus, Its Long-Term Health Effects, And Methods For Minimizing Exposure, Felicia Reimann, Jessica Messersmith, Hannah Williams, Emily Riley

Journal of Early Hearing Detection and Intervention

Congenital CMV (cCMV) is acknowledged as one of the most common causes of nonhereditary sensorineural hearing loss and an important cause of neurodevelopmental delay in children. Despite the danger cCMV poses, many parents are unaware of the virus, its sequelae, mode of transmission, and preventative behaviors. The purpose of the study was to determine South Dakota parents’ knowledge of cCMV, its sequelae, and ways to minimize exposure.

An electronic survey was utilized for data collection. Parents of children born in South Dakota from 2011 to 2018 were asked about their knowledge of CMV and cCMV, including common sequelae and ways …

Identifying Genetic Factors That Contribute To The Increased Risk Of Congenital Heart Defects In Infants With Down Syndrome., Cristina E. Trevino, Aaron M. Holleman, Holly Corbitt, Cheryl L. Maslen, Tracie C. Rosser, David J. Cutler, H Richard Johnston, Benjamin L. Rambo-Martin, Jai Oberoi, Kenneth J. Dooley, George T. Capone, Roger H. Reeves, Heather J. Cordell, Bernard D. Keavney, A J Agopian, Elizabeth Goldmuntz, Peter J. Gruber, James O'Brien, Douglas C. Bittel, Lalita Wadhwa, Clifford L. Cua, Jennifer G. Mulle, Michael P. Epstein, Stephanie L. Sherman, Michael E. Zwick

Manuscripts, Articles, Book Chapters and Other Papers

Atrioventricular septal defects (AVSD) are a severe congenital heart defect present in individuals with Down syndrome (DS) at a > 2000-fold increased prevalence compared to the general population. This study aimed to identify risk-associated genes and pathways and to examine a potential polygenic contribution to AVSD in DS. We analyzed a total cohort of 702 individuals with DS with or without AVSD, with genomic data from whole exome sequencing, whole genome sequencing, and/or array-based imputation. We utilized sequence kernel association testing and polygenic risk score (PRS) methods to examine rare and common variants. Our findings suggest that the Notch pathway, particularly …

Serious Neonatal Morbidities Are Associated With Differences In Dna Methylation Among Very Preterm Infants., Todd M. Everson, T Michael O'Shea, Amber Burt, Karen Hermetz, Brian S. Carter, Jennifer Helderman, Julie A. Hofheimer, Elisabeth C. Mcgowan, Charles R. Neal, Steven L. Pastyrnak, Lynne M. Smith, Antoine Soliman, Sheri A. Dellagrotta, Lynne M. Dansereau, James F. Padbury, Barry M. Lester, Carmen J. Marsit

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Infants born very preterm are more likely to experience neonatal morbidities compared to their term peers. Variations in DNA methylation (DNAm) associated with these morbidities may yield novel information about the processes impacted by these morbidities.

METHODS: This study included 532 infants born < 30 weeks gestation, participating in the Neonatal Neurobehavior and Outcomes in Very Preterm Infants study. We used a neonatal morbidity risk score, which was an additive index of the number of morbidities experienced during the NICU stay, including bronchopulmonary dysplasia (BPD), severe brain injury, serious neonatal infections, and severe retinopathy of prematurity. DNA was collected from buccal cells at discharge from the NICU, and DNAm was measured using the Illumina MethylationEPIC. We tested for differential methylation in association with the neonatal morbidity risk score then tested for differentially methylated regions (DMRs) and overrepresentation of biological pathways.

RESULTS: We identified ten differentially methylated CpGs (α Bonferroni-adjusted for 706,278 tests) that were associated with increasing neonatal morbidity risk scores at three intergenic regions and at HPS4, SRRD, FGFR1OP, TNS3, TMEM266, LRRC3B, ZNF780A, and TENM2. These mostly followed dose-response patterns, for 8 CpGs increasing DNAm associated with increased numbers of morbidities, while for 2 CpGs …

Frequency And Outcome Of Meconium Aspiration Syndrome In Babies Born With Meconium-Stained Liquor At Secondary Care Hospital In Pakistan: A Case Series Study, Abdul Moeed, Heeramani Lohana, Sarwat Urooj, Sheraz Ahmed, Khalil Ahmed, Khadija N Humayun

Department of Paediatrics and Child Health

Background: Meconium aspiration syndrome (MAS) in the newborn is characterized by hypoxia, hypercapnia, and acidosis. MAS is a leading cause of morbidity and mortality in neonates. The primary objective of this study was to estimate the frequency of meconium aspiration syndrome (MAP) in babies born with meconium-stained liquor. The secondary outcome was to estimate the meconium aspiration syndrome; in terms of hospital stay, complications, and mortality.
Methods: The study was done at Aga Khan Maternal and Child Care Centre, Hyderabad, Pakistan. Study design was case series and the duration of the study was of 6 months. All patients who fulfilled …

Flash Pulmonary Edema: A Case And Review Of Left Ventricular Non-Compaction Cardiomyopathy, Paula J. Watts, Oliver S. Garbo, Wendy Barrett, Michael Kopstein, Ryan Maybrook, Dmitriy Scherbak

HCA Healthcare Journal of Medicine

Left ventricular non-compaction cardiomyopathy is an uncommon type of cardiomyopathy caused by malformation of the myocardium during embryogenesis. This results in trabeculations within the ventricular wall that can affect the left and, less commonly, right ventricles. Presentation ranges from clinically asymptomatic to life-threatening arrhythmias. It is a rare and relatively unknown form of cardiomyopathy, though thought to be underdiagnosed. Prevalence is increasing due to improvements in imaging and awareness. Management is similar to that of other cardiomyopathies including angiotensin-converting-enzyme inhibitors or angiotensin receptor blockers, beta-blockers, diuretics, automatic implantable cardioverter defibrillator placement and cardiac transplantation. We present a case of a …

Incidental Discovery Of Anomalous Left Coronary Artery Arising From The Pulmonary Artery In A Coronavirus Disease-2019 Patient: A Blessing In Disguise, Masood Ghori, Rizwan Ahmed

Journal of the Saudi Heart Association

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a serious congenital malformation. Reports about asymptomatic, incidentally discovered ALCAPA in adults are scarce. We describe a patient with no known pre-existing cardiac condition admitted to our hospital with coronavirus disease 2019 (COVID-19) and was incidentally found to have ALCAPA. To the best of our knowledge, this is the first reported case of incidentally discovered ALCAPA in a COVID-19 patient and highlights the importance of appropriate investigation of the coronary status by Multidetector Cardiac Computed Tomographic Angiography (MDCCTA) in individuals with asymptomatic left ventricular dysfunction. The presentation …

Fosl1 Is A Novel Mediator Of Endotoxin/Lipopolysaccharide-Induced Pulmonary Angiogenic Signaling., Christopher R. Nitkin, Sheng Xia, Heather Menden, Wei Yu, Min Xiong, Daniel P. Heruth, Shui Qing Ye, Venkatesh Sampath

Manuscripts, Articles, Book Chapters and Other Papers

Systemic sepsis is a known risk factor for bronchopulmonary dysplasia (BPD) in premature infants, a disease characterized by dysregulated angiogenesis and impaired vascular and alveolar development. We have previoulsy reported that systemic endotoxin dysregulates pulmonary angiogenesis resulting in alveolar simplification mimicking BPD in neonatal mice, but the underlying mechanisms remain unclear. We undertook an unbiased discovery approach to identify novel signaling pathways programming sepsis-induced deviant lung angiogenesis. Pulmonary endothelial cells (EC) were isolated for RNA-Seq from newborn C57BL/6 mice treated with intraperitoneal lipopolysaccharide (LPS) to mimic systemic sepsis. LPS significantly differentially-regulated 269 genes after 6 h, and 1,934 genes after …

Nutrient Sensing Pathways Mediating Igfbp1 Phosphorylation In Fgr, Shapnil Bhuiyan

Electronic Thesis and Dissertation Repository

Impairment of fetal oxygen levels and nutrient delivery contributes to fetal growth restriction (FGR), which affects 20% of pregnancies. Such cellular stress induces hepatic Insulin-like Growth Factor Binding Protein 1 (IGFBP1) phosphorylation, which sequesters Insulin-like Growth Factor 1 (IGF-I) and markedly reduces fetal growth signaling. IGFBP1 hyperphosphoryaltion in hypoxia is mediated through the mTOR signaling pathway and through the Amino Acid Response (AAR) pathway during amino acid deprivation. Hypoxia stimulates upstream mTORC1 regulators, AMPK and REDD1 which are well-established upstream regulators of one of the two mTOR complexes, mTORC1. The molecular mechanisms by which upstream mTORC1-driven processes regulate IGFBP1 phosphorylation …

Schizophrenia And Genomics, Tiffini Lasch

Nursing Student Class Projects (Formerly MSN)

There are several advancements in genomics under specific categories, such as cancer and autism. Mental health is one of the leading diseases to cause a significant debt burden in today's society. However, genomics has not translated well into mental health treatment. One area of focus is schizophrenia. Those with schizophrenia suffer from severe and devastating symptoms. The symptoms can lead to harsh complications. Which can make it impossible to function in everyday life. Many believe it is not just genetics alone, but also environmental factors that contribute to schizophrenia. Through large genome-wide associated studies, discoveries are being made. There have …

Atypical Structural Connectivity And Integrity In Children With Hydrocephalus And Its Relation To Executive Function, Daamoon Ghahari

Electronic Thesis and Dissertation Repository

Infants with hydrocephalus are a high-risk group for adverse neurodevelopmental outcomes, including impairments in executive functions such as goal-directed behaviour, focusing, and shifting attention. The current pilot study aimed to profile white matter and executive dysfunction in school-aged children with ventriculoperitoneal (VP) shunted hydrocephalus and age-matched healthy controls using the Behaviour Rating Inventory for Executive Functions and diffusion tensor imaging. To assess the degree of similarity between patient structural networks and controls, probabilistic streamlines between striatal and cortical regions and their respective diffusivity metrics were assessed. For a number of patients with hydrocephalus, white matter in the striatal-executive network showed …

A Case Of Simpson-Golabi-Behmel Syndrome Presenting With Cutaneous Findings, Tessa B. Mullins, Abigail Russell, Chad Johnston

Capital Division Virtual Research Day 2020

Simpson-Golabi-Behmelsyndrome is a rare, X-linked recessive syndrome associated with mutations in the genes encoding glypican 3 (GPC3). The majority of cases have been described in pediatric males, with those affected showing manifestations of overgrowth, congenital heart defects, and increased incidence of neoplasia. Due to the X-linked nature of this disorder, penetrance is not well understood in female cases. Very few cases of female presentations of Simpson-Golabi-Behmelsyndrome have been described. We present a case of GPC3 gene mutation suggestive of Simpson-Golabi-Behmelsyndrome in an adult female patient, diagnosed based on genetic testing performed due to a diagnosis of sebaceous carcinoma.

Determining The Genetic Control Of Neural Tube Malformation Through Genetic Interactions With Idgf3, Elli N. Fox

Honors Projects

Genetic mutations disrupting human neural tube formation can lead to birth defects such as spina bifida and anencephaly. Defects can result in lack of neural tube closure in either the caudal (spina bifida) or cranial (anencephaly) regions. Little is known about the genes that cause these malformations. Researchers have been using the model organism Drosophila melanogaster in an attempt to determine genes responsible for neural tube malformations. Recently, an ortholog of human chitin-like protein, imaginal disc growth factor 3 (Idgf3), has been identified as important in the proper formation of Drosophila egg dorsal appendages. However, the molecular mechanism responsible for …

Atrioventricular Nodal Reentrant Tachycardia In Patients With Complex Congenital Heart Disease And Twin Atrioventricular Nodes., John Papagiannis, Christopher Mathis, Lindsey Malloy-Walton, Svjetlana Tisma-Dupanovic

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Similac Special Care And Elecare Cause Neonatal Gut Injury In Mice, Karishma Rao, Heather L. Menden, Wei Yu, Inamul Haque, Susana Chavez-Bueno, Alain C. Cuna, Shahid Umar, Venkatesh Sampath

Research Days

No abstract provided.

Clinical Validation And Diagnostic Rate/Outcomes Of A Dual Molecular Diagnostic Assay For Myotonic Dystrophy 1., Maxime Cadieux-Dion, Isabelle Thiffault, Midhat S. Farooqi, Joseph Alaimo

Research Days

No abstract provided.

Two Cases Of Severe Combined Immunodeficiency Disease With No Known Variants Identified In Genes Associated With Immunodeficiencies, Megan H. Tucker

Research Days

No abstract provided.

Factors That Impact Uptake Of Carrier Screening By Male Reproductive Partners Of Female Prenatal Patients, Wendi Betting

Dissertations & Theses (Open Access)

Carrier screening is a genomic technology that is used to identify individuals who are carriers of autosomal recessive conditions. Despite published recommendations, the majority of male partners do not complete carrier screening after their female partner is identified to be a carrier. Previous studieshave examined reasons why women elect or decline carrier screening, but there have been few published studies that examine factors that influence a male partner’s decision to elect or decline carrier screening, particularly when the female has been identified as a carrier. The aim of the study was to determine the factors that influence the uptake of …

A Replication And Extension Of A Prediction Tool Identifying Need For Treatment Among Opioid Exposed Infants, Loni Parrish

Electronic Theses and Dissertations

The incidences of maternal opioid use and neonatal opioid withdrawal syndrome (NOWS) have increased by nearly 400% over the past decade. Isemann and colleagues (2017) developed prediction tools (TiTE/TiTE²) to differentiate, within the first two days of life, between infants who will require pharmacotherapy for NOWS from those infants who will not require pharmacotherapy for NOWS. The goal of the current experiment was to replicate and extend their prediction model. The present experiments successfully replicated Isemann et al., (2017) results and also established alternative cutoff values for requiring treatment that provide better balance between all four metrics. Moreover, …

Complications And Management In Pediatric Heart Surgery, Hannah Berndt

The Eleanor Mann School of Nursing Undergraduate Honors Theses

The purpose of this literature review is to evaluate current research surrounding management of pediatric patients after cardiac surgery. Acute kidney injury (AKI) and neurodevelopmental deficits are the main discussion topics. This review analyzes the causes, risk factors, and effects of AKI. The diagnostic and management methods surrounding AKI are compared, and diagnostic approaches such as serum Cystatin C and fibroblast growth factor 23 are analyzed as potential future replacements to serum creatinine. The modality of renal replacement therapy is evaluated, and early initiation of peritoneal dialysis is preferred. This review discusses the most common causes, effects, and management of …

Segmental Neurofibromatosis: Isolated Eruption Of Neurofibromas On The Scapula In A Middle-Aged Man, Christopher White, Brett Brazen, Richard Miller

West Florida Division Virtual Research Day 2020

No abstract provided.

The Educational Needs Of Children Ages 0-5 Born With Neonatal Abstinence Syndrome In Maine, Julia Casey

Honors College

The goal of this study is to better understand the educational needs of children born with neonatal abstinence syndrome (NAS) in Maine. This study will consider two questions. First, what is currently being done to help children born with NAS in Maine? To answer this question, I looked into previous studies that evaluate the needs of children born with prenatal drug exposure. I also looked into Maine’s Strategic Action Opioid Plan to determine what initiatives the state is taking towards helping these children. Second, what should Maine be doing to help the children born with NAS? To answer this question, …

Polysubstance Exposure And Its Relationship To Pharmacological Treatment Characteristics, Parker Miller

Undergraduate Honors Theses

Neonatal Abstinence Syndrome (NAS) remains an ever-growing public health issue and a continued avenue for future research. The research question for this retrospective study was whether polysubstance exposure is related to the dose of medication the infant received or to the number of opioid-medications required to treat the infants’ withdrawal symptoms? The hypothesis for the retrospective study was there will be a significant relationship between polysubstance exposure and the dose of medication the infant received as well as the number of opioid-medications required to treat the infants’ withdrawal symptoms. A bivariate correlational indicated that there was not a significant association …