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Birth Defect Trends Within Texas Public Health Region 11, 2000-2019: An Analysis Of Texas Department Of State Health Services Public Data., Miguel A. Lopez, Jonathan M. Hebert, Padmanabhan Rengasamy 2024 The University of Texas Rio Grande Valley School of Medicine

Birth Defect Trends Within Texas Public Health Region 11, 2000-2019: An Analysis Of Texas Department Of State Health Services Public Data., Miguel A. Lopez, Jonathan M. Hebert, Padmanabhan Rengasamy

Research Symposium

South Texas is a predominantly Hispanic region with high rates of chronic illness, poor healthcare access, and a history of birth defect clusters. Between 1986 and 1991, 47 cases of anencephaly in Cameron County were linked to elevated fumonisins in the region’s corn-based diet, prompting a series of ongoing public health efforts. This paper aims to identify changes in prevalence for CNS defects, in addition to cardiac, circulatory, gastrointestinal, and genitourinary defects in South Texas within the last two decades. Public data on 20 birth defects from the Texas Department of State Health Services were obtained for decades 2000-2010 and …


History Of Clover Leaf Syndrome, Isabella Perez 2024 Nova Southeastern University

History Of Clover Leaf Syndrome, Isabella Perez

Mako: NSU Undergraduate Student Journal

The purpose of this paper is to summarize the history of clover leaf syndrome and describe the newest advancements made to treat it. Clover leaf syndrome is more formally referred to as Kleeblattschadel syndrome. Information was gathered from several scholarly, peer-reviewed articles, and was condensed down into the key takeaways. This syndrome impacts the formation of the skull due to premature fusion of its sutures, creating a tri-lobar skull that resembles a clover leaf. This premature fusion is referred to as a type of craniosynostosis and has been linked to causing several other health complications ranging in severity. This is …


Encephaloceles: A Comprehensive Exploration Of Research, Causes, Prevention, And Innovative Approaches To Diagnosis And Treatment, Amanda N. Bautista 2024 Nova Southeastern University

Encephaloceles: A Comprehensive Exploration Of Research, Causes, Prevention, And Innovative Approaches To Diagnosis And Treatment, Amanda N. Bautista

Mako: NSU Undergraduate Student Journal

Encephaloceles, a rare medical condition derived from Greek words meaning "brain hernia," involve the protrusion of brain tissue, cerebrospinal fluid, or membranes through a defect in the skull. These anomalies often present at birth and can occur in various locations on the skull. Recent research has shed light on the possible causes of encephaloceles, including genetic factors such as the Sonic Hedgehog pathway and inadequate folic acid intake during pregnancy. Folic acid is essential for proper neural tube closure during fetal development, making it a key preventive measure.

Emerging treatments for encephaloceles show promise, with a focus on mesenchymal stem …


Parental Instincts: The Neurological And Biological Factors Associated With Parenthood, Jared Reeder 2023 Gardner-Webb University

Parental Instincts: The Neurological And Biological Factors Associated With Parenthood, Jared Reeder

Undergraduate Honors Theses

The following project involves a systematic review of the scientific literature on neural and biological changes of mothers and fathers in parenthood. Until very recently, little scientific research was devoted to studying how bearing children affects a man or woman’s long-term biology. Over the last twenty years, studies of neuroplastic changes in new mothers show specific neural mechanisms responsible for altering the behaviors of mothers during and after pregnancy. These changes in neuroplasticity alter behavior in such a way that led to mothers requiring less sleep and being more prone to hearing the cries of their children. In addition to …


Therapies For Mitochondrial Disorders, Kayli Sousa Smyth, Anne Mulvihill 2022 Technological University of the Shannon: Midlands Midwest

Therapies For Mitochondrial Disorders, Kayli Sousa Smyth, Anne Mulvihill

SURE Journal: Science Undergraduate Research Experience Journal

Mitochondria are cytoplasmic, double-membrane organelles that synthesise adenosine triphosphate (ATP). Mitochondria contain their own genome, mitochondrial DNA (mtDNA), which is maternally inherited from the oocyte. Mitochondrial proteins are encoded by either nuclear DNA (nDNA) or mtDNA, and both code for proteins forming the mitochondrial oxidative phosphorylation (OXPHOS) complexes of the respiratory chain. These complexes form a chain that allows the passage of electrons down the electron transport chain (ETC) through a proton motive force, creating ATP from adenosine diphosphate (ADP). This study aims to explore current and prospective therapies for mitochondrial disorders (MTDS). MTDS are clinical syndromes coupled with abnormalities …


Primary Cilia Of The Cardiac Neural Crest & Hedgehog-Mediated Mechanisms Of Congenital Heart Disease, Lindsey A. Fitzsimons 2022 University of Maine

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

Electronic Theses and Dissertations

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


Fortuitous Diagnosis Of Total Anomalous Pulmonary Venous Return In A Newborn With Hypoglycemia, Joseph Maes, Terence Zach 2022 Creighton University

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

Child Health Research Institute Pediatric Research Forum

No abstract provided.


The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan 2021 University of Connecticut

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

Honors Scholar Theses

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


Use Of Umbilical Cord Mesencymal Stem Cells In The Treatment Of Severe Covid-19 Pneumonia, Michelle Joy De Vera, Marc Joseph Buensalido, Jan Jorge Francisco, Jia An Bello, Alan Olavere, Alma Calavera, Josephine Ramos, Norma Ona, Eyreka Escalambre, Marvin Delos Santos, Samuel Bernal, Vasiliki E. Kalodimou 2021 Ateneo School of Medicine and Public Health, Ateneo de Manila University

Use Of Umbilical Cord Mesencymal Stem Cells In The Treatment Of Severe Covid-19 Pneumonia, Michelle Joy De Vera, Marc Joseph Buensalido, Jan Jorge Francisco, Jia An Bello, Alan Olavere, Alma Calavera, Josephine Ramos, Norma Ona, Eyreka Escalambre, Marvin Delos Santos, Samuel Bernal, Vasiliki E. Kalodimou

Ateneo School of Medicine and Public Health Publications

A proposed mechanism of severe Corona virus Disease-2019 (COVID-19) is a deregulated innate immune response to an infection with SARS-CoV-2 resulting in cytokine release syndrome (CRS). Mesencymal stem cells (MSC) have been shown to have immunomodulatory effects and may attenuate the CRS. We present 11 cases of severe COVID-19 pneumonia treated with umbilical cord-derived, non-HLA matched MSC administered as four separate intravenous doses, 5×105 cells/kg. Clinical symptoms, measurements of inflammatory mediators and cytokines (IL6, IL10, IFN-γ, TNF-α), and radiological results were recorded for each patient. Although there were large variations in baseline cytokine pattern elevation, all cytokine levels decreased in …


Contraceptive Methods In The United States: The Question Of Abortive Mechanisms, Tara Ferenczy 2020 Liberty University

Contraceptive Methods In The United States: The Question Of Abortive Mechanisms, Tara Ferenczy

Senior Honors Theses

This thesis reviews the many methods of contraception available in the United States. Although society’s understanding of women’s health has become a major topic, there is still a significant deficit of information regarding how the accessible methods affect women’s bodies, specifically reproductive tissue. The thesis analyzes numerous contraceptive options focusing specifically on the mechanisms of action to determine whether options have abortifacient properties so that readers may develop educated opinions regarding medical and ethical uses. Information involving strengths and limitations of each technique and the effects on both the female body and the reproductive material assist in understanding the process …


Defects In Fetal Mouth Movement And Pharyngeal Patterning Underlie Cleft Palate Caused By Retinoid Deficiency., Regina Friedl 2019 University of Louisville

Defects In Fetal Mouth Movement And Pharyngeal Patterning Underlie Cleft Palate Caused By Retinoid Deficiency., Regina Friedl

Electronic Theses and Dissertations

Cleft palate is a common birth defect. Etiologic mechanisms of palate cleft include defects in palate morphogenesis, mandibular growth, or spontaneous fetal mouth movement. Cleft palate linked to deficient fetal mouth movement has been demonstrated directly only in a single experimental model of loss of neurotransmission. Here, using retinoid deficient mouse embryos, we demonstrate directly for the first time that deficient fetal mouth movement and cleft palate occurs as a result of mis-patterned development of pharyngeal peripheral nerves and cartilages. Retinoid deficient embryos were generated by inactivation of retinol dehydrogenase 10 (Rdh10), which is critical for production of …


Arterial Distribution Of The Human Aorta: An Examination Of The Evolutionary, Developmental, And Physiological Bases Of Asymmetry., Brandon Oddo, Cooker Storm 2019 Pepperdine University

Arterial Distribution Of The Human Aorta: An Examination Of The Evolutionary, Developmental, And Physiological Bases Of Asymmetry., Brandon Oddo, Cooker Storm

Seaver College Research And Scholarly Achievement Symposium

The study of anatomy contends that “form follows function”; a disciplinary theme purporting that anatomical structures (i.e., cells, tissues, and organs) have a shape that serves its proper function. With this in mind, it is unclear why human arterial distribution off the aortic arch is asymmetrical, while the corresponding venous anatomy is symmetrical. We investigated the evolutionary, developmental, and physiological bases for the asymmetry of aortic arch branches in humans. First, we investigated the cardiovascular anatomy of ancestral species to determine if, and at what level, anatomical divergence (from aortic symmetry to asymmetry) occurs. Second, we examined the formation of …


Spag17 Deficiency Impairs Neuronal Cell Differentiation In Developing Brain, Olivia J. Choi 2019 Virginia Commonwealth University

Spag17 Deficiency Impairs Neuronal Cell Differentiation In Developing Brain, Olivia J. Choi

Theses and Dissertations

The development of the nervous system is a multi-level, time-sensitive process that relies heavily on cell differentiation. However, the molecular mechanisms that control brain development remain poorly understood. We generated a knockout (KO) mouse for the cilia associated gene Spag17. These animals develop hydrocephalus and enlarged ventricles consistent with the role of Spag17 in the motility of ependymal cilia. However, other phenotypes that cannot be explained by this role were also present. Recently, a mutation in Spag17 has been associated with brain malformations and severe intellectual disability in humans. Therefore, we hypothesized that Spag17 plays a crucial role in …


Factors Affecting The Survival And Implantation Of Human Blastocysts Following Vitrification, Hamish Barblett 2019 Edith Cowan University

Factors Affecting The Survival And Implantation Of Human Blastocysts Following Vitrification, Hamish Barblett

Theses: Doctorates and Masters

The increased cell numbers, presence of the blastocoel and rapid cell re-organisation have required the development of specific survival criteria post warm to effectively select the most viable blastocyst for transfer. Pre-freeze blastocyst expansion and post warm re-expansion have been shown to contribute significantly to the chances of an implantation and subsequent live birth. The aim of this study was to explore factors that influence the outcome of blastocyst transfers after vitrification and warming, and hopefully improve outcomes by further applying improvements in future cycles. Variables from 8 years of vitrified/warmed blastocysts were retrospectively compiled and analysed to determine the …


Case Report: A Hard Cyst To Swallow, Anjalee Choudhury, Joshua Wood, Kristan Diaz-Rios, Jyothi Swarup 2018 The University of Texas Rio Grande Valley

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

School of Medicine Publications and Presentations

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


Extrinsic And Intrinsic Factors In Liver Development, Amrita Palaria 2018 University of Massachusetts Amherst

Extrinsic And Intrinsic Factors In Liver Development, Amrita Palaria

Doctoral Dissertations

Liver is the largest internal organ of the human body. It performs a multitude of functions. Therefore, it is provided with a huge regenerative capacity however, because of the same reason it is also prone to various diseases. Hence, it is essential to understand liver development in order to understand liver regeneration and liver diseases to provide better therapeutic targets and solutions. Liver development is orchestrated by a variety of intrinsic and extrinsic factors. The major focus of this dissertation thesis is to elucidate the role of BMP signals and YY1/VEGFA regulated signals in liver development. Liver organogenesis initiates with …


Identifying The 5’End Of The Camta1 Genes In Zebrafish, Morgan Fronk 2018 Brigham Young University

Identifying The 5’End Of The Camta1 Genes In Zebrafish, Morgan Fronk

Undergraduate Honors Theses

Congenital heart diseases (CHDs) are a significant cause of infant death and are frequently caused by mutations in transcription factors. Camta1 (calmodulin binding transcription activator 1) is a transcription factor that has been proposed as a modulator in embryonic heart development and a possible cause of CHDs. The only other known member of its family in vertebrates is involved in activating a hypertrophy gene program in adult heart failure. Unlike camta2, camta1 is expressed in the embryonic heart during heart looping. However, few studies have been done on camta1. In zebrafish, there are two camta1 ohnologs (homologs created through …


Embryonic Transcription Factor Expression In Mice Predicts Medial Amygdala Neuronal Identity And Sex-Specific Responses To Innate Behavioral Cues., Julieta E Lischinsky, Katie Sokolowski, Li Peijun, Shigeyuki Esumi, Yasmin Kamal, Meredith Goodrich, Livio Oboti, Timothy R Hammond, Meera Krishnamoorthy, Daniel Feldman, Molly Huntsman, Judy Liu, Joshua G Corbin 2017 George Washington University

Embryonic Transcription Factor Expression In Mice Predicts Medial Amygdala Neuronal Identity And Sex-Specific Responses To Innate Behavioral Cues., Julieta E Lischinsky, Katie Sokolowski, Li Peijun, Shigeyuki Esumi, Yasmin Kamal, Meredith Goodrich, Livio Oboti, Timothy R Hammond, Meera Krishnamoorthy, Daniel Feldman, Molly Huntsman, Judy Liu, Joshua G Corbin

Pediatrics Faculty Publications

The medial subnucleus of the amygdala (MeA) plays a central role in processing sensory cues required for innate behaviors. However, whether there is a link between developmental programs and the emergence of inborn behaviors remains unknown. Our previous studies revealed that the telencephalic preoptic area (POA) embryonic niche is a novel source of MeA destined progenitors. Here, we show that the POA is comprised of distinct progenitor pools complementarily marked by the transcription factors Dbx1 and Foxp2. As determined by molecular and electrophysiological criteria this embryonic parcellation predicts postnatal MeA inhibitory neuronal subtype identity. We further find that Dbx1-derived and …


Mechanism For Generation Of Left Isomerism In Ccdc40 Mutant Embryos, Kelsey Sugrue, Irene E. Zohn 2017 George Washington University

Mechanism For Generation Of Left Isomerism In Ccdc40 Mutant Embryos, Kelsey Sugrue, Irene E. Zohn

Pediatrics Faculty Publications

Leftward fluid flow in the mouse node is generated by cilia and is critical for initiating asymmetry of the left-right axis. Coiled-coil domain containing-40 (Ccdc40) plays an evolutionarily conserved role in the assembly of motile cilia and establishment of the left-right axis. Approximately one-third of Ccdc40lnks mutant embryos display situs defects and here we investigate the underlying mechanism. Ccdc40lnks mutants show delayed induction of markers of the left-lateral plate mesoderm (L-LPM) including Lefty1, Lefty2 and Nodal. Consistent with defective cilia motility compromising fluid flow across the node, initiation of asymmetric perinodal Cerberus like-2 ( …


Dreadlocks (Dock) Is Necessary To Regulate Growth Of The Germline Ring Canals In The Developing Drosophila Melanogaster Egg Chamber, Olivia Crowe 2017 Butler University

Dreadlocks (Dock) Is Necessary To Regulate Growth Of The Germline Ring Canals In The Developing Drosophila Melanogaster Egg Chamber, Olivia Crowe

Undergraduate Honors Thesis Collection

Infertility is a prevalent issue in the United States, impacting 1.5 million women (1). A possible cause of infertility is defects in gametogenesis, or the formation of sperm and egg. Therefore, understanding the basic mechanisms that promote normal gamete formation could impact our understanding of infertility. The Drosophila melanogaster egg develops from an organ-like structure called an egg chamber. The egg chamber is composed of a central cluster of 16 germ cells that are connected to one another by intercellular bridges, called ring canals. These ring canals are composed of filamentous actin and allow the transfer of materials from supporting …


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