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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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The Impact Of Epigallocatechin-3-Gallate (Egcg) On Ts65dn Down Syndrome Mouse Models, Nicole Santana 2019 University of Central Florida

The Impact Of Epigallocatechin-3-Gallate (Egcg) On Ts65dn Down Syndrome Mouse Models, Nicole Santana

The Pegasus Review: UCF Undergraduate Research Journal

Down syndrome (DS) is caused by the trisomy 21 genetic disorder, which produces a unique craniofacial phenotype. The purpose of this research is to better understand how Epigallocatechin-3-gallate (ECGC) influences the development of DS craniofacial phenotypes. Ts65Dn DS mouse models have been genetically modified to have 3 copies of numerous genes found on human chromosome 21, including DYRK1A, which plays a role in bone and brain development. EGCG is a known inhibitor of Dyrk1a activity. For this study, pregnant Ts65Dn mice were treated with 200 mg/kg of ECGC twice daily on days 7 and 8 of pregnancy. It was ...


A Comprehensive Review Of Pegvaliase, An Enzyme Substitution Therapy For The Treatment Of Phenylketonuria, Tasmina Hydery, Valerie Azzopardi Coppenrath 2019 University of Massachusetts Medical School

A Comprehensive Review Of Pegvaliase, An Enzyme Substitution Therapy For The Treatment Of Phenylketonuria, Tasmina Hydery, Valerie Azzopardi Coppenrath

Open Access Publications by UMMS Authors

Objective: To review the pharmacology, pharmacokinetics, efficacy, safety, and place in therapy of a phenylalanine-metabolizing enzyme indicated to reduce blood phenylalanine concentrations, pegvaliase injection.

Data Sources: Searches of MEDLINE (1946-September 1, 2018) were conducted using the terms pegvaliase and phenylalanine ammonia lyase (PAL). Additional data were obtained from the prescribing information, the product dossier obtained from the manufacturer, and Clinicaltrials.gov.

Study Selection and Data Extraction: All English language articles related to pharmacology, pharmacokinetics, efficacy, or safety of the combination therapy in human subjects were reviewed.

Data Synthesis: Pegvaliase is a pegylated PAL enzyme that converts phenylalanine to ammonia and ...


Neverland: A Critical Autoethnography Of Aging With Cystic Fibrosis, Alexandra CH Nowakowski 2019 Florida State University College of Medicine

Neverland: A Critical Autoethnography Of Aging With Cystic Fibrosis, Alexandra Ch Nowakowski

The Qualitative Report

In this autoethnography, I analyze stereotypes and misconceptions about people with cystic fibrosis (CF). I examine these illness representations and their social underpinnings through critical analysis of my journey to conclusive diagnosis with CF after first being tested for the disease in early life, and the events that have followed from that turning point. Using experiential data and prior research, I explore and refute harmful misconceptions about life with CF. I challenge the notion that people with CF never grow old. I also contest the idea that people who receive conclusive diagnoses during adulthood only then transition into patient identities ...


Recommendations For The Design Of Therapeutic Trials For Neonatal Seizures., Janet S. Soul, Ronit Pressler, Marilee Allen, Geraldine Boylan, Heike Rabe, Ron Portman, Pollyanna Hardy, Sarah Zohar, Klaus Romero, Brian Tseng, Varsha Bhatt-Mehta, Cecil Hahn, Scott Denne, Stephane Auvin, Alexander Vinks, John Lantos, Neil Marlow, Jonathan M. Davis, International Neonatal Consortium 2019 Children's Mercy Hospital

Recommendations For The Design Of Therapeutic Trials For Neonatal Seizures., Janet S. Soul, Ronit Pressler, Marilee Allen, Geraldine Boylan, Heike Rabe, Ron Portman, Pollyanna Hardy, Sarah Zohar, Klaus Romero, Brian Tseng, Varsha Bhatt-Mehta, Cecil Hahn, Scott Denne, Stephane Auvin, Alexander Vinks, John Lantos, Neil Marlow, Jonathan M. Davis, International Neonatal Consortium

Manuscripts, Articles, Book Chapters and Other Papers

Although seizures have a higher incidence in neonates than any other age group and are associated with significant mortality and neurodevelopmental disability, treatment is largely guided by physician preference and tradition, due to a lack of data from well-designed clinical trials. There is increasing interest in conducting trials of novel drugs to treat neonatal seizures, but the unique characteristics of this disorder and patient population require special consideration with regard to trial design. The Critical Path Institute formed a global working group of experts and key stakeholders from academia, the pharmaceutical industry, regulatory agencies, neonatal nurse associations, and patient advocacy ...


Genetic Discrimination: Why Bragdondoes Not Ensure Protection, Laura F. Rothstein 2019 Selected Works

Genetic Discrimination: Why Bragdondoes Not Ensure Protection, Laura F. Rothstein

Laura Rothstein

No abstract provided.


The Impact Of Cleft Lip/Palate And Clp Surgical Intervention On The Social Integration Of Adolescents In India, Mustafa Zahid 2019 The University of San Francisco

The Impact Of Cleft Lip/Palate And Clp Surgical Intervention On The Social Integration Of Adolescents In India, Mustafa Zahid

Master's Theses

Cleft Lip/Palate, a congenital orofacial anomaly, carries an incidence rate of approximately 1 in every 1000 births. In addition to the stigma associated with the condition, the varying levels of cleft severity might result in lower life outcomes which could include lower cognitive ability, physical and psychological well-being, social and behavioral outcomes of adolescents. This paper focuses on the social integration element of life outcomes, which is composed of the social inclusion and prosocial behavior of the adolescent. Despite the affordability of restorative surgeries, patients in rural areas of Low and Middle-Income Countries (LMICs) such as India face accessibility ...


Permanent Junctional Reciprocating Tachycardia In Infants And Children, Ranjit I. Kylat MD, Ricardo A. Samson 2019 University of Arizona

Permanent Junctional Reciprocating Tachycardia In Infants And Children, Ranjit I. Kylat Md, Ricardo A. Samson

School of Medicine Faculty Publications

Permanent junctional reciprocating tachycardia (PJRT) is a rare form of supraventricular tachycardia (SVT). It generally presents in infants but can be difficult to diagnose. The characteristic EKG findings, response to Adenosine and persistence or frequent recurrences are helpful in making the diagnosis. It is usually difficult to manage with the initial and single medications used in SVT. Many patients are misdiagnosed and not treated effectively and end up having end stage cardiomyopathy and are diagnosed in patients referred for transplant. Hence all patients referred for a cardiac transplant with dilated cardiomyopathy need to be evaluated for this arrhythmia. If appropriate ...


The Effects Of Antenatal Betamethasone On Late Preterm Infants, Jennifer Hummel D.O., Abigail Prest D.O., Xinhua Chen M.D. 2019 Rowan University

The Effects Of Antenatal Betamethasone On Late Preterm Infants, Jennifer Hummel D.O., Abigail Prest D.O., Xinhua Chen M.D.

Stratford Campus Research Day

Administration of steroids to mothers expected to deliver in the late preterm period has previously been found to decrease neonatal respiratory morbidity. In this retrospective chart review, there were no significant differences between groups in the primary outcome of required respiratory support for the neonate, incidence of periventricular hemorrhage or neonatal death. However, this study found that their rate of hyperbilirubinemia, need for phototherapy, and NICU stays were longer than their counterparts whose mothers did not receive steroids or who only received one dose.These findings may provide support for future protocols directed to improve neonatal morbidity secondary to jaundice.


Metabolic Control, Quality Of Life, And Body Image In Patients With Glycogen Storage Disease Type Ia, Alexa Bream 2019 The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences

Metabolic Control, Quality Of Life, And Body Image In Patients With Glycogen Storage Disease Type Ia, Alexa Bream

The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Dissertations and Theses (Open Access)

Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary to an inability to properly break down glycogen and to perform gluconeogenesis. Complex management is then necessary for patients and includes dietary modification, frequent cornstarch usage, and evaluation for additional complications such as hepatic adenomas, hypertriglyceridemia, and kidney disease. Previous studies have found lower scores in quality of life and body image in GSDIa patients; however, the specific factors influencing this ...


The Effects Of Two Novel Anti-Inflammatory Compounds On Prepulse Inhibition And Neural Microglia Cell Activation In A Rodent Model Of Schizophrenia, Heath W. Shelton 2019 East Tennessee State University

The Effects Of Two Novel Anti-Inflammatory Compounds On Prepulse Inhibition And Neural Microglia Cell Activation In A Rodent Model Of Schizophrenia, Heath W. Shelton

Electronic Theses and Dissertations

Recent studies have shown elevated neuroinflammation in a large subset of individuals diagnosed with schizophrenia. A pro-inflammatory cytokine, tumor necrosis factor-alpha (TNFα), has been directly linked to this neuroinflammation. This study examined the effects of two TNFα modulators (PD2024 and PD340) produced by our collaborators at P2D Bioscience, Inc., to alleviate auditory sensorimotor gating deficits and reduce microglial cell activation present in the polyinosinic:polycytidylic (Poly I:C) rodent model of schizophrenia. Auditory sensorimotor gating was assessed using prepulse inhibition and microglial activation was examined and quantified using immunohistochemistry and confocal microscopy, respectively. Both PD2024 and PD340 alleviated auditory sensorimotor ...


Validity Of Neonatal Poc Glucose Testing, Matthew Turnquist, Amy Haskins, Christina Holt 2019 Maine Medical Center

Validity Of Neonatal Poc Glucose Testing, Matthew Turnquist, Amy Haskins, Christina Holt

Maine Medical Center

Background:

Glucose monitoring a common invasive intervention in newborn period

•most commonly obtained laboratory value

Appropriate identification of hypoglycemia is critical:

•Severe hypoglycemia can lead to neurologic insult

•Cerebral palsy, developmental delay, seizures, death


Embryonic Lethality Of Cranial Neural Crest Deletion Of Cdc73, Lilia Shen 2019 University of Connecticut - Storrs

Embryonic Lethality Of Cranial Neural Crest Deletion Of Cdc73, Lilia Shen

Honors Scholar Theses

Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a disease characterized by parathyroid tumors, renal cysts or tumors, uterine tumors, and ossifying jaw fibromas. The cause of this syndrome is linked to a tumor suppressor gene called Cdc73, which encodes the protein product parafibromin. The loss of proper expression of Cdc73/parafibromin is implicated in the development of the tumors typical of HPT-JT, although the exact mechanisms of tumorigenesis are unclear. In particular, not much is understood about the development of ossifying fibromas (OF) of the jaw in this syndrome. OF is a benign bone neoplasm that can affect the mandible and maxilla ...


Fetal Ventricular Measurement In Determination For Intrauterine Closure Of Myelomeningoceles, Paige Lundy, Emanuel Vlastos, Paul A. Grabb 2019 Children's Mercy Hospital

Fetal Ventricular Measurement In Determination For Intrauterine Closure Of Myelomeningoceles, Paige Lundy, Emanuel Vlastos, Paul A. Grabb

Posters

Prenatal closure of myelomeningoceles for fetuses with ventricular width of greater than 15 mm at the time of intrauterine screening (19-25 weeks) has been discouraged, but little is documented regarding the details of ventricle measurement, modality, and timing. This study concludes that ultrasound and MRI provide different results in regards to fetal ventricle size. If treatment recommendations are going to be offered or withheld based on the 15 mm "rule" the method of fetal imaging must be taken into account.


A Unique Model For Palliative Care In A Level Iv Neonatal Intensive Care Unit, Kelstan L. Ellis DO, Megan Tucker, Jennifer Linebarger 2019 Childrens Mercy Kansas City

A Unique Model For Palliative Care In A Level Iv Neonatal Intensive Care Unit, Kelstan L. Ellis Do, Megan Tucker, Jennifer Linebarger

Posters

This poster describes a review of the relationship between the Fetal Health Center and the Palliative Care team as the Palliative Care Team follows the patient family from prenatal through neonatal intensive care.


Improving Nicu Referrals To The Missouri Early Intervention Program (First Steps), Luke Prest, Lauren Fenstermann, Ayman Khmour 2019 Children's Mercy Hospital

Improving Nicu Referrals To The Missouri Early Intervention Program (First Steps), Luke Prest, Lauren Fenstermann, Ayman Khmour

Posters

First Steps is the statewide early intervention program in Missouri, but a review of referrals from the Truman neonatal intensive care unit revealed that only 24% of eligible patients were being referred. This poster describes efforts to increase awareness among residents and to refer all eligible patients to First Steps upon discharge.


Who Codes In The Nicu: An Analysis Of Demographics And Factors That Place Neonates At Higher/Lower Risk Of A Serious Code Event And Prognosis Post-Code, Danielle N. Gonzales, Ashley K. Sherman, Jennifer Dremann, Staci Elliott, Amelia Gute, Amber Bellinghausen, Jessica Brunkhorst, Danielle Reed 2019 Children's Mercy Hospital

Who Codes In The Nicu: An Analysis Of Demographics And Factors That Place Neonates At Higher/Lower Risk Of A Serious Code Event And Prognosis Post-Code, Danielle N. Gonzales, Ashley K. Sherman, Jennifer Dremann, Staci Elliott, Amelia Gute, Amber Bellinghausen, Jessica Brunkhorst, Danielle Reed

Posters

This study analyzed resuscitation events in a level IV neonatal intensive care unit from 2012-2017 to determine whether there are identifiable differences between those who have a rapid response event and those with a short or long code and determine factors post-event that may impact survival to discharge.


Weighted Pathway Genetic Load Analysis Of Hyperbilirubinemic Infants Indicates A Potential Genetic Component For Susceptibility To Bilirubin Neurotoxicity, Sean M. Riordan, Jean-Baptiste LePichon, Steven Shapiro, John Cowden, Monica VillaGullen, Laurence Thielemans, Dina Villanueva Garcia, Jesus Aguirre-Hernandez 2019 Children's Mercy Hospital

Weighted Pathway Genetic Load Analysis Of Hyperbilirubinemic Infants Indicates A Potential Genetic Component For Susceptibility To Bilirubin Neurotoxicity, Sean M. Riordan, Jean-Baptiste Lepichon, Steven Shapiro, John Cowden, Monica Villagullen, Laurence Thielemans, Dina Villanueva Garcia, Jesus Aguirre-Hernandez

Posters

Severe kernicterus spectrum disorder (KSD) is described as motor and auditory deficits resulting from brain damage caused by hyperbilirubinemia. The severity of HB does not always predict the severity of injury. The lack of a strong monogenetic link to susceptibility suggests bilirubin-induced brain damage may be due to impaired bilirubin response pathways. This poster describes work to use a modified pathway genetic load (mPGL) score method to perform a targeted genetic analysis of whole exome data from patients with various degrees of neonatal HB, with an ultimate goal of developing a neonatal screen to susceptibiltiy to bilirubin neurotoxicity.


Total And Free Plasma Bilirubin And Clinical Outcomes In Severe Hyperbilirubinemia, Sean M. Riordan, Jean-Baptiste LePichon, Steven Shapiro, Tina Slusher, Fatima Abdullahi, Hafsat M. Suleiman, Victor C. Pam, Mamu B. Samuel, Christopher S. Yilgwan, Christian Isichei, Idris Y. Mohammed 2019 Children's Mercy Hospital

Total And Free Plasma Bilirubin And Clinical Outcomes In Severe Hyperbilirubinemia, Sean M. Riordan, Jean-Baptiste Lepichon, Steven Shapiro, Tina Slusher, Fatima Abdullahi, Hafsat M. Suleiman, Victor C. Pam, Mamu B. Samuel, Christopher S. Yilgwan, Christian Isichei, Idris Y. Mohammed

Posters

Acute bilirubin encephalopathy (ABE) and kernicterus spectrum disorder (KSD) have become relatively uncommon in high income countries but remain a major cause of morbidity and mortality in low- and middle-income countries. To better understand the relationship between free (Bf) and total (TB) bilirubin levels and the development of ABE and KSD we followed infants born in three large tertiary centers in northern and central Nigeria (Jos, Kano and Zaria).


Aortoduodenal Fistula Forms From Primary Aortic Stump Graft In A Two-Time Multi-Visceral Transplant Patient With Presentation Of Gastrointestinal Bleed And Bowel Perforation: A Case Report, Brielle Corrente 2019 Duquesne University

Aortoduodenal Fistula Forms From Primary Aortic Stump Graft In A Two-Time Multi-Visceral Transplant Patient With Presentation Of Gastrointestinal Bleed And Bowel Perforation: A Case Report, Brielle Corrente

Graduate Student Research Symposium

Usually not diagnosed until open laparotomy, aortoduodenalfistulas (ADF) are one of the rarest complications of intestinal transplant surgery. With an incidence rate of only 0.04% at autopsy and only 250 documented cases since the early 1800’s, aortoduodenal fistulas are the most deadly complications of intestinal transplantation with a mortality rate of 100% without surgical intervention. A 39 year old, two-time multi-visceral transplant African American female patient suffered from a primary aortoduodenal fistula formation in a primary modified multi-visceral transplant aortic stump graft site. With emergency open laparotomy repair, revascularization of the secondary multi-visceral transplant was performed, saving the ...


Identifying Cystic Fibrosis (Cf) Skeletally: A Proposed Differential Diagnosis, Clare Remy 2019 University of Tennessee, Knoxville

Identifying Cystic Fibrosis (Cf) Skeletally: A Proposed Differential Diagnosis, Clare Remy

EURēCA: Exhibition of Undergraduate Research and Creative Achievement

Cystic fibrosis (CF) is an inherited disorder that affects the mucosal lining of the lungs and digestive system due to a defective gene that causes blockages of tubes, ducts, and passageways. The type of mutation correlates with the severity of the condition, but with modern medicine individuals can live into their 50s. We propose a differential diagnosis for identifying CF in the skeleton based on bony pathologies that occur in higher frequency in CF patients. CF patients exhibit chronic sinusitis, clubbing of hands and feet, vertebral fractures/collapse and abnormal curvature, significantly shorter stature, lower bone density, rib fractures, and ...


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