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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons

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All Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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Birth History As A Predictor Of Adverse Birth Outcomes: Evidence From State Vital Statistics Data, Dejun Su, Kaeli Samson, Ashvita Garg, Corrine Hanson, Ann L. Anderson Berry, Ge Lin Kan, Ming Qu 2018 University of Nebraska Medical Center

Birth History As A Predictor Of Adverse Birth Outcomes: Evidence From State Vital Statistics Data, Dejun Su, Kaeli Samson, Ashvita Garg, Corrine Hanson, Ann L. Anderson Berry, Ge Lin Kan, Ming Qu

Community Health Sciences Faculty Publications

One of the most important predictors of preterm births (PTBs) or low-birth-weight births (LBWBs) is whether a mother has had a history of these birth outcomes. This study examined how different characterizations of birth history (e.g., any previous incidence of PTBs or LBWBs, immediate previous birth that was preterm or of low birth weight, and number of previous PTBs or LBWBs) were associated with PTBs or LBWBs. Based on birth records (n = 98,776) reported to the vital statistics electronic registration system in Nebraska from 2005 to 2014, mothers with a history of PTBs or LBWBs were more likely ...


The Effect Of Diet On Craniofacial Growth In Osteogenesis Imperfecta Mouse Model, Summer H. Ladd 2018 University of North Texas Health Science Center at Fort Worth

The Effect Of Diet On Craniofacial Growth In Osteogenesis Imperfecta Mouse Model, Summer H. Ladd

Theses and Dissertations

Osteogenesis imperfecta (OI, or “brittle bone disease”) is a rare disorder that is caused by genetic point mutations (COL1A1/COL1A2) that affect type 1 collagen. In OI type III (severe) patients, limb bones are more susceptible to skeletal fractures and the bones of the craniofacial region are underdeveloped. Some OI type III patients also suffer from dental malocclusions or fractures (dentinogenesis imperfecta, DI). The goals of this project are 1) to describe the facial phenotype in an OI mouse model, to see if this model can be used to test potential behavioral and pharmaceutical interventions; and 2) to determine if ...


Extraction And Analysis Of Vector Flow Imaging Data In A Pediatric Population, Bailey Stinnett 2018 University of Arkansas, Fayetteville

Extraction And Analysis Of Vector Flow Imaging Data In A Pediatric Population, Bailey Stinnett

Biomedical Engineering Undergraduate Honors Theses

Vector flow imaging (VFI) is a new ultrasound technology that provides real time, angle-independent visualization of flow velocities in the heart and great vessels. Thus far, VFI has been used for superficial applications due to the limited penetration depth of available transducer probes; however, this depth in smaller pediatric patients enables adequate aortic views. In this project, VFI was used to study pediatric aortic stenosis (PAS)—a congenital heart defect that results in the narrowing of the aorta and/or aortic valve. The decision to refer PAS patients for surgical or catheter-based intervention is initially based on Doppler ultrasound. VFI ...


In Vitro Aortic Arch Flow Model For Vector Flow Imaging Testing, Jackson Mosley 2018 University of Arkansas, Fayetteville

In Vitro Aortic Arch Flow Model For Vector Flow Imaging Testing, Jackson Mosley

Biomedical Engineering Undergraduate Honors Theses

Pediatric stenosis is the narrowing of the aorta at the aortic valve, above the aortic valve, or below the aortic valve. Typically, this disease’s severity is diagnosed by conventional Doppler ultrasound methods, or echocardiography. Conventional Doppler can sometimes overestimate the pressure gradient over the area of stenosis, diagnosing some cases of PAS to be more severe than they actually are. This causes earlier intervention than is desired in children. A new US modality, Vector Flow Imaging (VFI), is an angle-independent US imaging method that can potentially more accurately quantify peak blood flow velocities and pressure gradients across stenotic sections ...


Dystrophic Calcifications Point The Way-Unusual And Early Diagnostic Clue Of Conradi-Hünermann-Happle Syndrome, Kenneth Yu, Alexander T. Reid, Stephanie J T Chen, Rajiv M. Patel, Steven M. Donn, Johann E. Gudjonsson, Lori Lowe 2018 University of Iowa

Dystrophic Calcifications Point The Way-Unusual And Early Diagnostic Clue Of Conradi-Hünermann-Happle Syndrome, Kenneth Yu, Alexander T. Reid, Stephanie J T Chen, Rajiv M. Patel, Steven M. Donn, Johann E. Gudjonsson, Lori Lowe

Stead Family Department of Pediatrics Publications

No abstract provided.


Impact Of Lumacaftor/Ivacaftor On Pulmonary Exacerbation Rates In Members With Cystic Fibrosis In A Medicaid Population, Mark A. Tesell, Karen Stevens, Bonnie C. Greenwood, Caroline J. Alper, Kimberly J. Lenz, Paul L. Jeffrey 2018 University of Massachusetts Medical School

Impact Of Lumacaftor/Ivacaftor On Pulmonary Exacerbation Rates In Members With Cystic Fibrosis In A Medicaid Population, Mark A. Tesell, Karen Stevens, Bonnie C. Greenwood, Caroline J. Alper, Kimberly J. Lenz, Paul L. Jeffrey

Commonwealth Medicine Publications

This poster gives an overview of pulmonary exacerbation rates pre- and post-initiation of Lumacaftor/Ivacaftor (LUM/IVA) in Massachusetts' Medicaid program. Pulmonary disease is one of the leading causes of morbidity and mortality among patients with cystic fibrosis. LUM/IVA has been effective in improving pulmonary outcomes in two observational studies, but before this study, there had been no published data evaluating real-world outcomes for Medicaid patients receiving this therapy.

This poster on the impact of a drug for patients with cystic fibrosis was shared during the 2018 Academy of Managed Care Pharmacy Managed Care & Specialty Pharmacy Annual Meeting and ...


High Maternal Dietary Glycemic Index And Sugar Consumption And Their Association With Birth Defects And Pregnancy Complications, Nicole Thornton 2018 Carroll College

High Maternal Dietary Glycemic Index And Sugar Consumption And Their Association With Birth Defects And Pregnancy Complications, Nicole Thornton

Carroll College Student Undergraduate Research Festival

Objective: The purpose of this systematic review was to look at existing peer reviewed articles regarding high maternal dietary glycemic index (DGI) and/or sugar consumption (including glucose, fructose, and sucrose) and the risk for birth defects or pregnancy complications.

Methods: PubMed was the primary database used to search for relevant articles. Other related articles were found in the reference sections of the articles screened in the original search.

Results: Nine case-control and cohort studies were used in this review. Five of the six case-control studies found a significant risk between high maternal DGI and/or sugar intake and birth ...


Cystic Fibrosis-Related Diabetes Is Caused By Islet Loss And Inflammation, Nathaniel J. Hart, Jenny Aurielle B. Babon, Megan E. DeNicola, Sally C. Kent, Alvin C. Powers 2018 Vanderbilt University Medical Center

Cystic Fibrosis-Related Diabetes Is Caused By Islet Loss And Inflammation, Nathaniel J. Hart, Jenny Aurielle B. Babon, Megan E. Denicola, Sally C. Kent, Alvin C. Powers

Open Access Articles

Cystic fibrosis-related (CF-related) diabetes (CFRD) is an increasingly common and devastating comorbidity of CF, affecting approximately 35% of adults with CF. However, the underlying causes of CFRD are unclear. Here, we examined cystic fibrosis transmembrane conductance regulator (CFTR) islet expression and whether the CFTR participates in islet endocrine cell function using murine models of beta cell CFTR deletion and normal and CF human pancreas and islets. Specific deletion of CFTR from murine beta cells did not affect beta cell function. In human islets, CFTR mRNA was minimally expressed, and CFTR protein and electrical activity were not detected. Isolated CF/CFRD ...


Maternal Coxsackievirus B Induced Dysregulation Of Sumoylation Processes As A Potential Cause Of Hypoplastic Left Heart Syndrome, Bailey Kemp, Sarah Severson 2018 University of Minnesota, Morris

Maternal Coxsackievirus B Induced Dysregulation Of Sumoylation Processes As A Potential Cause Of Hypoplastic Left Heart Syndrome, Bailey Kemp, Sarah Severson

Undergraduate Research Symposium 2018

Hypoplastic Left Heart Syndrome (HLHS) is a life-threatening congenital heart defect with unknown etiology. Here we hypothesize that HLHS has etiologic roots in maternal asymptomatic coxsackievirus B infection. Coxsackievirus has been demonstrated to disrupt normal distribution of small ubiquitin-like modifiers (SUMO) in the cell. The vital cardiac transcription factor, Nkx2-5, has been shown to be dependent on SUMOylation for proper function. Specifically, co-localization of SUMO and Nkx2.5 has been identified, as well as decreased SUMOylation associated with Nkx2-5 mutants. As Nxk2-5 is essential for fetal heart development and mutations in the gene for this vital transcription factor have been ...


Human Down Syndrome Fibroblasts Exhibit Changes In Cell Motility Due To Increased Adhesion, Paige Cassidy, Shelby Kelemen, Sami Bailey, Taylor Bumbledare, Leah Kershner, Kristy Welshhans 2018 Kent State University

Human Down Syndrome Fibroblasts Exhibit Changes In Cell Motility Due To Increased Adhesion, Paige Cassidy, Shelby Kelemen, Sami Bailey, Taylor Bumbledare, Leah Kershner, Kristy Welshhans

Undergraduate Research Symposium

Human Down syndrome fibroblasts exhibit changes in cell motility due to increased adhesion

Paige Cassidy1, Shelby Kelemen1, Sami Bailey B.S.1,Taylor Bumbledare1, Leah Kershner B.S.1, Kristy Welshhans Ph.D1,2

1Department of Biological Sciences, 2School of Biomedical Sciences

Kent State University, Kent, Ohio

Down syndrome is a common developmental disorder which results from the triplication of human chromosome 21. Intellectual disability is ubiquitous in Down syndrome, but our understanding of the cellular mechanisms underlying this phenotype are limited. Focal adhesions link the extracellular matrix to the intracellular cytoskeleton and regulate ...


Inhibition Of Tnf-Alpha Decreases Microglia Activation In Rats Neonatally Treated With Poly I:C, Heath W. Shelton, Russell W. Brown 2018 East Tennessee State University

Inhibition Of Tnf-Alpha Decreases Microglia Activation In Rats Neonatally Treated With Poly I:C, Heath W. Shelton, Russell W. Brown

Appalachian Student Research Forum

Introduction: Current medical treatment for individuals diagnosed with schizophrenia (SCHZ) primarily relies on the inhibition of the dopamine D2 receptor that has been shown to be supersensitive in these patients. Treatment occurs through the use of antipsychotic medication which leads to a number of debilitating dose-dependent side effects, such as weight gain, agranulocytosis, and seizures. Patients diagnosed with SCHZ have also been shown to have increased inflammation in their central nervous system (CNS), particularly within specific brain regions such as the prefrontal cortex and hippocampus. This is in large part due to the interaction between a pro-inflammatory cytokine called ...


Examining A Relationship Between Chronic Dietary Folic Acid Deficiency And Activation Of P53 Gene In Down Syndrome Ts65dn Mice, Julia Thomas, Susan E. Helm PhD, Jay Brewster 2018 Pepperdine University

Examining A Relationship Between Chronic Dietary Folic Acid Deficiency And Activation Of P53 Gene In Down Syndrome Ts65dn Mice, Julia Thomas, Susan E. Helm Phd, Jay Brewster

Seaver College Research And Scholarly Achievement Symposium

Seaver Undergraduate Research


Bibliometric Analysis Of Scholarly Publications On The Zika Virus, 1952-2016, Frances A. Delwiche 2018 University of Vermont

Bibliometric Analysis Of Scholarly Publications On The Zika Virus, 1952-2016, Frances A. Delwiche

University Libraries Faculty and Staff Publications

The 2015-2016 epidemic in the Americas caused by the Zika Virus (ZIKV) triggered a dramatic increase in the number of scholarly publications on this topic. In an effort to understand and characterize this body of literature, a bibliometric study was conducted on all articles found in PubMed that were published on the Zika virus between 1952 and 2016. Study parameters included publication date, source journal, subject and category of source journal, and country of first author. The data was frequency-ranked, enabling identification of the most highly productive journal titles, subject areas, and countries. The study concluded with a comparison between ...


Editing Out Five Serpina1 Paralogs To Create A Mouse Model Of Genetic Emphysema, Florie Borel, Huaming Sun, Marina Zieger, Andrew Cox, Brynn Cardozo, Weiying Li, Gabriella Oliveira, Airiel Davis, Alisha Gruntman, Terence R. Flotte, Michael H. Brodsky, Andrew M. Hoffman, Mai K. Elmallah, Christian Mueller 2018 University of Massachusetts Medical School

Editing Out Five Serpina1 Paralogs To Create A Mouse Model Of Genetic Emphysema, Florie Borel, Huaming Sun, Marina Zieger, Andrew Cox, Brynn Cardozo, Weiying Li, Gabriella Oliveira, Airiel Davis, Alisha Gruntman, Terence R. Flotte, Michael H. Brodsky, Andrew M. Hoffman, Mai K. Elmallah, Christian Mueller

Pediatric Publications and Presentations

Chronic obstructive pulmonary disease affects 10% of the worldwide population, and the leading genetic cause is alpha-1 antitrypsin (AAT) deficiency. Due to the complexity of the murine locus, which includes up to six Serpina1 paralogs, no genetic animal model of the disease has been successfully generated until now. Here we create a quintuple Serpina1a-e knockout using CRISPR/Cas9-mediated genome editing. The phenotype recapitulates the human disease phenotype, i.e., absence of hepatic and circulating AAT translates functionally to a reduced capacity to inhibit neutrophil elastase. With age, Serpina1 null mice develop emphysema spontaneously, which can be induced in younger mice ...


Genetic Correlations Among Psychiatric And Immune-Related Phenotypes Based On Genome-Wide Association Data, Daniel S. Tylee, Eric O. Mick 2018 SUNY Upstate Medical University

Genetic Correlations Among Psychiatric And Immune-Related Phenotypes Based On Genome-Wide Association Data, Daniel S. Tylee, Eric O. Mick

University of Massachusetts Medical School Faculty Publications

Individuals with psychiatric disorders have elevated rates of autoimmune comorbidity and altered immune signaling. It is unclear whether these altered immunological states have a shared genetic basis with those psychiatric disorders. The present study sought to use existing summary-level data from previous genome-wide association studies (GWASs) to determine if commonly varying single nucleotide polymorphisms (SNPs) are shared between psychiatric and immune-related phenotypes. We estimated heritability and examined pair-wise genetic correlations using the linkage disequilibrium score regression (LDSC) and heritability estimation from summary statistics (HESS) methods. Using LDSC, we observed significant genetic correlations between immune-related disorders and several psychiatric disorders, including ...


Cerebral Organoids Derived From Sandhoff Disease-Induced Pluripotent Stem Cells Exhibit Impaired Neurodifferentiation, Maria L. Allende, Emily K. Cook, Bridget C. Larman, Adrienne Nugent, Jacqueline M. Brady, Diane Golebiowski, Miguel Sena-Esteves, Cynthia J. Tifft, Richard L. Proia 2018 National Institutes of Health

Cerebral Organoids Derived From Sandhoff Disease-Induced Pluripotent Stem Cells Exhibit Impaired Neurodifferentiation, Maria L. Allende, Emily K. Cook, Bridget C. Larman, Adrienne Nugent, Jacqueline M. Brady, Diane Golebiowski, Miguel Sena-Esteves, Cynthia J. Tifft, Richard L. Proia

Open Access Articles

Sandhoff disease, one of the GM2 gangliosidoses, is a lysosomal storage disorder characterized by the absence of beta-hexosaminidase A and B activity and the concomitant lysosomal accumulation of its substrate, GM2 ganglioside. It features catastrophic neurodegeneration and death in early childhood. How the lysosomal accumulation of ganglioside might affect the early development of the nervous system is not understood. Recently, cerebral organoids derived from induced pluripotent stem (iPS) cells have illuminated early developmental events altered by disease processes. To develop an early neurodevelopmental model of Sandhoff disease, we first generated iPS cells from the fibroblasts of an infantile Sandhoff disease ...


A Cre-Inducible Dux4 Transgenic Mouse Model For Investigating Facioscapulohumeral Muscular Dystrophy, Takako I. Jones, Peter L. Jones 2018 University of Massachusetts Medical School

A Cre-Inducible Dux4 Transgenic Mouse Model For Investigating Facioscapulohumeral Muscular Dystrophy, Takako I. Jones, Peter L. Jones

Open Access Articles

The Double homeobox 4 (DUX4) gene is an important regulator of early human development and its aberrant expression is causal for facioscapulohumeral muscular dystrophy (FSHD). The DUX4-full length (DUX4-fl) mRNA splice isoform encodes a transcriptional activator; however, DUX4 and its unique DNA binding preferences are specific to old-world primates. Regardless, the somatic cytotoxicity caused by DUX4 expression is conserved when expressed in cells and animals ranging from fly to mouse. Thus, viable animal models based on DUX4-fl expression have been difficult to generate due in large part to overt developmental toxicity of low DUX4-fl expression from leaky transgenes. We have ...


Got Caries? Breast Milk And Early Childhood Caries?, Megan L. Dean, Rebecca Fields, Hannah Fritz 2018 VCU School of Dentistry

Got Caries? Breast Milk And Early Childhood Caries?, Megan L. Dean, Rebecca Fields, Hannah Fritz

Dental Hygiene Student Scholarship

Objective: To provide an analysis of the association between the longevity of breastfeeding and development of ECC. Determine the optimal time frame in which mothers should cease breastfeeding to reduce ECC development. Methods: Dr. Brickhouse, PubMed, Google Scholar and other scholarly databases were utilized to find current scientific evidence on the effects of breast milk on ECC. Relevant articles were summarized to write a review of literature. 16 articles published from 2015 to the present date were reviewed and cited. Results: From the studies, there is strong evidence to support breastfeeding beyond 12 months of age increases the prevalence of ...


Microcephaly, Christianne E. Albers 2018 Augustana College, Rock Island Illinois

Microcephaly, Christianne E. Albers

Global Issues in Public Health

Microcephaly is a noncommunicable condition causing the head of an infant to be smaller than what is typical. Microcephaly can cause delays in developmental milestones and/or can cause other conditions such as epilepsy, cerebral palsy, learning disabilities, hearing loss and vision problems. Microcephaly is found more frequently in certain populations of the world than others, specifically those with an increased number of cases with Zika virus. Women need to take preventative measures to ensure their unborn child is safe from the Zika virus. The Zika virus is not the only way microcephaly can occur. Many other causes like exposure ...


Type 2 Diabetes, AJ Mimlitz 2018 Augustana College, Rock Island Illinois

Type 2 Diabetes, Aj Mimlitz

Global Issues in Public Health

The purpose of this two page educational document is to inform not only educators, but also students about the description of type two diabetes and what populations are affected, the epidemiology of type 2 diabetes, including how get diagnosed and how that diagnosis will affect specific outcomes, and the solutions to how we can prevent or begin to cure type 2 diabetes. This brief project shows plenty of statistics revolving around these main points. Research shows that “type 2 diabetes already causes 5 million deaths per year, expecting to become the 7th cause of death globally by 2030” (Alidrisi & Nijpels ...


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