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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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Health Professional Treatment Practices For Pediatric Sickle Cell Disease In Nigeria, Natalie Wichelt 2018 University of Nebraska Medical Center

Health Professional Treatment Practices For Pediatric Sickle Cell Disease In Nigeria, Natalie Wichelt

Service Learning/Capstone Experience

Abstract

Sickle cell disease (SCD) is caused by a genetic defect that results in abnormal hemoglobin genes that can cause devastating health effects like chronic hemolytic anemia and vaso-occlusive crises. Additionally, sickle cell disease can cause defects in the immune system, leaving those with the disease highly susceptible to a variety of different infections. In the pediatric population specifically, the complications of sickle cell disease contribute significantly to the under-five mortality rate of Nigeria. In response to the Millennium Development Goals 4, 5 and 6, as well as with growing national concern over the challenges faced by sickle cell disease ...


Central Precocious Puberty In Boston Boys: A 10-Year Single Center Experience, Lisa Swartz Topor, Kimberly Bowerman, Jason T. Machan, Courtney L. Gilbert, Tairmae Kangarloo, Natalie D. Shaw 2018 Brown University

Central Precocious Puberty In Boston Boys: A 10-Year Single Center Experience, Lisa Swartz Topor, Kimberly Bowerman, Jason T. Machan, Courtney L. Gilbert, Tairmae Kangarloo, Natalie D. Shaw

Open Access Articles

OBJECTIVE: Recent studies in the US and abroad suggest that boys are undergoing puberty at a younger age. It is unknown if this secular trend extends to boys with central precocious puberty (CPP), who sit at the extreme end of the pubertal spectrum, and if neuroimaging should remain a standard diagnostic tool.

STUDY DESIGN: Retrospective chart review of all boys with CPP seen by Endocrinology at a US pediatric hospital from 2001-2010.

RESULTS: Fifty boys had pubertal onset at an average age of 7.31 years (95CI 6.83-7.89), though many did not present until nearly one year thereafter ...


Congenital Heart Defects And Ciliopathies Associated With Renal Phenotypes, George C. Gabriel, Gregory J. Pazour, Cecilia W. Lo 2018 University of Pittsburgh

Congenital Heart Defects And Ciliopathies Associated With Renal Phenotypes, George C. Gabriel, Gregory J. Pazour, Cecilia W. Lo

Open Access Articles

Congenital heart disease (CHD) is one of the most common birth defects, and recent studies indicate cilia-related mutations play a central role in the genetic etiology of CHD. As cilia are also known to have important roles in kidney development and disease, it is not surprising that renal anomalies were found to be enriched among CHD mutant mice recovered in a large-scale mouse forward genetic screen. Indeed 42% of mutations identified to cause both CHD and renal anomalies were cilia-related. Many of these cilia mutations comprise cilia transition zone or inversin compartment components, consistent with the known role of these ...


A Rationally Engineered Capsid Variant Of Aav9 For Systemic Cns-Directed And Peripheral Tissue-Detargeted Gene Delivery In Neonates, Dan Wang, Shaoyong Li, Dominic J. Gessler, Jun Xie, Li Zhong, Jia Li, Karen Tran, Kim Van Vliet, Lingzhi Ren, Qin Su, Ran He, Jason E. Goetzmann, Terence R. Flotte, Mavis Agbandje-McKenna, Guangping Gao 2018 University of Massachusetts Medical School

A Rationally Engineered Capsid Variant Of Aav9 For Systemic Cns-Directed And Peripheral Tissue-Detargeted Gene Delivery In Neonates, Dan Wang, Shaoyong Li, Dominic J. Gessler, Jun Xie, Li Zhong, Jia Li, Karen Tran, Kim Van Vliet, Lingzhi Ren, Qin Su, Ran He, Jason E. Goetzmann, Terence R. Flotte, Mavis Agbandje-Mckenna, Guangping Gao

Open Access Articles

Adeno-associated virus (AAV) has provided the gene therapy field with the most powerful in vivo gene delivery vector to realize safe, efficacious, and sustainable therapeutic gene expression. Because many clinically relevant properties of AAV-based vectors are governed by the capsid, much research effort has been devoted to the development of AAV capsids for desired features. Here, we combine AAV capsid discovery from nature and rational engineering to report an AAV9 capsid variant, designated as AAV9.HR, which retains AAV9's capability to traverse the blood-brain barrier and transduce neurons. This variant shows reduced transduction in peripheral tissues when delivered through ...


Identification Of Oral Clefts As A Risk Factor For Hearing Loss During Newborn Hearing Screening, Patricia L. Purcell, Kathleen CY Sie, Todd C. Edwards, Debra Lochner Doyle, Karin Neidt 2018 University of Washington

Identification Of Oral Clefts As A Risk Factor For Hearing Loss During Newborn Hearing Screening, Patricia L. Purcell, Kathleen Cy Sie, Todd C. Edwards, Debra Lochner Doyle, Karin Neidt

Journal of Early Hearing Detection and Intervention

Objective: This study assessed whether children with oral clefts are appropriately classified as at-risk for hearing loss at the time of newborn hearing screening and describes their screening and diagnostic results.

Design: Birth certificates were used to identify children with cleft lip and palate or isolated cleft palate born in Washington State from 2008–2013. These were cross-referenced with the state’s Early Hearing Detection, Diagnosis and Intervention (EHDDI) database. Multivariate logistic regression was used to examine associations.

Results: Birth records identified 235 children with cleft lip and palate and 116 with isolated cleft palate. Six children were listed as ...


Congenital Chagas Disease In The United States: Cost Savings Through Maternal Screening, Eileen Stillwaggon, Victoria Perez-Zetune, Stephanie R. Bialek, Susan P. Montgomery 2018 Gettysburg College

Congenital Chagas Disease In The United States: Cost Savings Through Maternal Screening, Eileen Stillwaggon, Victoria Perez-Zetune, Stephanie R. Bialek, Susan P. Montgomery

Economics Faculty Publications

Chagas disease, caused by Trypanosoma cruzi, is transmitted by insect vectors through transfusions, transplants, insect feces in food, and from mother to child during gestation. Congenital infection could perpetuate Chagas disease indefinitely, even in countries without vector transmission. An estimated 30% of infected persons will develop lifelong, potentially fatal, cardiac or digestive complications. Treatment of infants with benznidazole is highly efficacious in eliminating infection. This work evaluates the costs of maternal screening and infant testing and treatment of Chagas disease in the United States. We constructed a decision-analytic model to find the lower cost option, comparing costs of testing and ...


A Fresh Look At Huntingtin Mrna Processing In Huntington's Disease, Lindsay S. Romo, Emily S. Mohn, Neil Aronin 2018 University of Massachusetts Medical School

A Fresh Look At Huntingtin Mrna Processing In Huntington's Disease, Lindsay S. Romo, Emily S. Mohn, Neil Aronin

RNA Therapeutics Institute Publications

Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a mutation that expands the polyglutamine (CAG) repeat in exon 1 of the huntingtin (HTT) gene. Wild-type HTT protein interacts with other proteins to protect cells against toxic stimuli, mediate vesicle transport and endocytosis, and modulate synaptic activity. Mutant HTT protein disrupts autophagy, vesicle transport, neurotransmitter signaling, and mitochondrial function. Although many of the activities of wild-type HTT protein and the toxicities of mutant HTT protein are characterized, less is known about the activities of HTT mRNA. Most putative HD therapies aim to target mutant HTT mRNA before it ...


Aerobic Glycolysis Is Essential For Normal Rod Function And Controls Secondary Cone Death In Retinitis Pigmentosa, Lolita Petit, Shan Ma, Joris Cipi, Shun-Yun Cheng, Marina Zieger, Nissim Hay, Claudio Punzo 2018 University of Massachusetts Medical School

Aerobic Glycolysis Is Essential For Normal Rod Function And Controls Secondary Cone Death In Retinitis Pigmentosa, Lolita Petit, Shan Ma, Joris Cipi, Shun-Yun Cheng, Marina Zieger, Nissim Hay, Claudio Punzo

University of Massachusetts Medical School Faculty Publications

Aerobic glycolysis accounts for approximately 80%-90% of glucose used by adult photoreceptors (PRs); yet, the importance of aerobic glycolysis for PR function or survival remains unclear. Here, we further established the role of aerobic glycolysis in murine rod and cone PRs. We show that loss of hexokinase-2 (HK2), a key aerobic glycolysis enzyme, does not affect PR survival or structure but is required for normal rod function. Rods with HK2 loss increase their mitochondrial number, suggesting an adaptation to the inhibition of aerobic glycolysis. In contrast, cones adapt without increased mitochondrial number but require HK2 to adapt to metabolic ...


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, 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, 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 ...


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.


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 ...


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 ...


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