Open Access. Powered by Scholars. Published by Universities.®

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons

Open Access. Powered by Scholars. Published by Universities.®

604 Full-Text Articles 2,727 Authors 104,348 Downloads 93 Institutions

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

Faceted Search

604 full-text articles. Page 7 of 26.

Safe Sleep In The Nicu, Ashley Mirabile, Barb Haney, Dianne Wilderson, Beckie Palmer, Ashley Domsch, Eugenia K. Pallotto 2019 Children's Mercy Hospital

Safe Sleep In The Nicu, Ashley Mirabile, Barb Haney, Dianne Wilderson, Beckie Palmer, Ashley Domsch, Eugenia K. Pallotto

Posters

Goal: To evaluate a staff education program on approach to improve in the rate of eligible NICU infants in safe sleep in a busy 84-bed level IV NICU.

Outcome Measures; Improve safe sleep compliance for eligible patients to 90% or greater by December 2019.

Process Measures: Audits from bedside RNs showing compliance with safe sleep.

Planned Intervention: In December of 2018 a multidisciplinary work group brainstormed and implemented best practice safe sleep education for staff and parents. September 2019 a Safe Sleep Educational Toolkit was made available for staff.

Results: Safe Sleep compliance has gone from 53% to 90% in ...


The Kanga-Croo: Nurse Resident Champions Creating Momentum For Improvement, Brett Butler, Jacob Burden, Carly Creekmore, Blair Griffin, Taylor Godemann, Taylor Hagen, Theresa Koelling, Mary Anne Kucera, Halle Magid, Makenna Miller, Monica Page, Mary Riffel, Madison Stebbins, Sarah Stokes, Skylar Suppes 2019 Children's Mercy Hospital

The Kanga-Croo: Nurse Resident Champions Creating Momentum For Improvement, Brett Butler, Jacob Burden, Carly Creekmore, Blair Griffin, Taylor Godemann, Taylor Hagen, Theresa Koelling, Mary Anne Kucera, Halle Magid, Makenna Miller, Monica Page, Mary Riffel, Madison Stebbins, Sarah Stokes, Skylar Suppes

Posters

Topic Summary:

Kangaroo Care (skin to skin care) is a parent-led, evidence-based intervention which improves outcomes in neonatal patients including: decreased apnea, increased weight gain, increased parent satisfaction and decreased length of stay.

Results:

Nurse resident team interventions to support parent engagement and remove barriers to Kangaroo Care (KC) through iterative PDSA cycles from January 2018 to July 2019 yielded positive results within a subset of ICN patients.


Oligogenic Effects Of 16p11.2 Copy-Number Variation On Craniofacial Development, Yuqi Qiu, Curtis K. Deutsch, Jonathan Sebat 2019 University of California - San Diego

Oligogenic Effects Of 16p11.2 Copy-Number Variation On Craniofacial Development, Yuqi Qiu, Curtis K. Deutsch, Jonathan Sebat

Open Access Publications by UMMS Authors

A copy-number variant (CNV) of 16p11.2 encompassing 30 genes is associated with developmental and psychiatric disorders, head size, and body mass. The genetic mechanisms that underlie these associations are not understood. To determine the influence of 16p11.2 genes on development, we investigated the effects of CNV on craniofacial structure in humans and model organisms. We show that deletion and duplication of 16p11.2 have "mirror" effects on specific craniofacial features that are conserved between human and rodent models of the CNV. By testing dosage effects of individual genes on the shape of the mandible in zebrafish, we identify ...


Blue Rubber Bleb Nevus Syndrome, Danielle Kocsis, Anthony Dupuy, Stacey Wice, Aftab Ahmad, Tehmina Yaquibi 2019 HCA Healthcare

Blue Rubber Bleb Nevus Syndrome, Danielle Kocsis, Anthony Dupuy, Stacey Wice, Aftab Ahmad, Tehmina Yaquibi

Internal Medicine

No abstract provided.


Human Glb1 Knockout Cerebral Organoids: A Model System For Testing Aav9-Mediated Glb1 Gene Therapy For Reducing Gm1 Ganglioside Storage In Gm1 Gangliosidosis, Yvonne L. Latour, Robin Yoon, Sarah E. Thomas, Christina Grant, Cuiling Li, Miguel Sena-Esteves, Maria L. Allende, Richard L. Proia, Cynthia J. Tifft 2019 National Human Genome Research Institute

Human Glb1 Knockout Cerebral Organoids: A Model System For Testing Aav9-Mediated Glb1 Gene Therapy For Reducing Gm1 Ganglioside Storage In Gm1 Gangliosidosis, Yvonne L. Latour, Robin Yoon, Sarah E. Thomas, Christina Grant, Cuiling Li, Miguel Sena-Esteves, Maria L. Allende, Richard L. Proia, Cynthia J. Tifft

Open Access Publications by UMMS Authors

GM1 gangliosidosis is an autosomal recessive neurodegenerative disorder caused by the deficiency of lysosomal gangliosidebeta-galactosidase (beta-gal) and resulting in accumulation of GM1 ganglioside. The disease spectrum ranges from infantile to late onset and is uniformly fatal, with no effective therapy currently available. Although animal models have been useful for understanding disease pathogenesis and exploring therapeutic targets, no relevant human central nervous system (CNS) model system has been available to study its early pathogenic events or test therapies. To develop a model of human GM1 gangliosidosis in the CNS, we employed CRISPR/Cas9 genome editing to target GLB1 exons 2 and ...


Eugenics In The 21st Century, Jessica Linn Chin 2019 The Graduate Center, City University of New York

Eugenics In The 21st Century, Jessica Linn Chin

Dissertations, Theses, and Capstone Projects

Eugenics is the science of enhancing the human population through the management of breeding and hereditary traits. This thesis explores the history of eugenics and shows how eugenic practices continue in the 21st century with advancements in technology and positive eugenic goals that can result in adverse effects on the human body and society. When Sir Francis Galton coined the term eugenics in 1883, he intended to improve British society with the use of positive eugenics. Galton used positive eugenics to encourage people with good mental and physical qualities to produce more children. He avoided negative eugenics, which involved ...


Screening And Diagnosing Spinal Muscular Atrophy By Use Of Buccal Swabs: A Validation Study Using Ddpcr, Anna Mackay 2019 University of Connecticut

Screening And Diagnosing Spinal Muscular Atrophy By Use Of Buccal Swabs: A Validation Study Using Ddpcr, Anna Mackay

Honors Scholar Theses

Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder characterized by progressive muscle weakness due to the degeneration of motor neurons. SMA is caused by a homozygous deletion, mutation or rearrangement in the Survival Motor Neuron 1 (SMN1) gene. Survival Motor Neuron 2 (SMN2) is located tandem to SMN1 and is identical to SMN1 except for a single nucleotide substitution in exon 7. SMA diagnosis and carrier status can be determined by droplet digital PCR (ddPCR). This study sought to validate Bio-Rad’s ddPCR SMN1and SMN2 gene determination copy number assay for SMA diagnosis and screening using buccal swabs specimens ...


Pax9 Is Required For Cardiovascular Development And Interacts With Tbx1 In The Pharyngeal Endoderm To Control 4(Th) Pharyngeal Arch Artery Morphogenesis, Helen M. Phillips, Rene Maehr, Simon D. Bamforth 2019 Newcastle University

Pax9 Is Required For Cardiovascular Development And Interacts With Tbx1 In The Pharyngeal Endoderm To Control 4(Th) Pharyngeal Arch Artery Morphogenesis, Helen M. Phillips, Rene Maehr, Simon D. Bamforth

Open Access Publications by UMMS Authors

Developmental defects affecting the heart and aortic arch arteries are a significant phenotype observed in 22q11 deletion syndrome patients and are caused by a microdeletion on chromosome 22q11. TBX1, one of the deleted genes, is expressed throughout the pharyngeal arches and is considered a key gene, when mutated, for the arch artery defects. Pax9 is expressed in the pharyngeal endoderm and is downregulated in Tbx1 mutant mice. We show here that Pax9 deficient mice are born with complex cardiovascular malformations affecting the outflow tract and aortic arch arteries with failure of the 3(rd) and 4(th) pharyngeal arch arteries ...


Predicting Premature Birth Risk With Cfrna, Jason Lin, Jonathan Marin, John Santerre 2019 Southern Methodist University

Predicting Premature Birth Risk With Cfrna, Jason Lin, Jonathan Marin, John Santerre

SMU Data Science Review

Identifying which genes are early indicators for preterm births using cell-free ribonucleic acid (cfRNA) from non-invasive blood tests provided by pregnant women can improve prenatal care. Currently, there are no medical tests for early detection of preterm birth risk in routine checkups for pregnant women. Recent studies have shown potential genes that can predict preterm birth. Machine learning techniques are utilized to see if the Area Under the Curve (AUC) can be improved upon when evaluating the prediction accuracy for chosen genes sequences and concentrations. Using cell-free RNA data from non-invasive blood tests in conjunction with machine learning, we improve ...


Egfp Insertional Mutagenesis Reveals Multiple Fxr2p Fibrillar States With Differing Ribosome Association In Neurons, Emily E. Stackpole, Michael R. Akins, Mariya Ivshina, Anastasia C. Murthy, Nicolas L. Fawzi, Justin R. Fallon 2019 Brown University

Egfp Insertional Mutagenesis Reveals Multiple Fxr2p Fibrillar States With Differing Ribosome Association In Neurons, Emily E. Stackpole, Michael R. Akins, Mariya Ivshina, Anastasia C. Murthy, Nicolas L. Fawzi, Justin R. Fallon

Open Access Publications by UMMS Authors

RNA-binding proteins (RBPs) function in higher-order assemblages such as RNA granules to regulate RNA localization and translation. The Fragile X homolog FXR2P is an RBP essential for formation of neuronal Fragile X granules that associate with axonal mRNA and ribosomes in the intact brain. However, the FXR2P domains important for assemblage formation in a cellular system are unknown. Here we used an EGFP insertional mutagenesis approach to probe for FXR2P intrinsic features that influence its structural states. We tested 18 different in-frame FXR2P(EGFP) fusions in neurons and found that the majority did not impact assemblage formation. However, EGFP insertion ...


Burden Of Disease In Pediatric Patients With Hypophosphatasia: Results From The Hpp Impact Patient Survey And The Hpp Outcomes Study Telephone Interview., Eric T. Rush, Scott Moseley, Anna Petryk 2019 Children's Mercy Hospital

Burden Of Disease In Pediatric Patients With Hypophosphatasia: Results From The Hpp Impact Patient Survey And The Hpp Outcomes Study Telephone Interview., Eric T. Rush, Scott Moseley, Anna Petryk

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Hypophosphatasia (HPP) is a rare, inherited, metabolic bone disease caused by deficient tissue-non-specific isoenzyme of alkaline phosphatase activity that manifests as a broad range of signs/symptoms, including bone mineralization defects and systemic complications. The burden of disease is poorly characterized, particularly in children. This study aimed to characterize the patient-reported burden of disease among children with HPP using two survey instruments: the HPP Impact Patient Survey (HIPS) and the HPP Outcomes Study Telephone interview (HOST).

METHODS: Between September 2009 and June 2011, pediatric patients (aged younger than 18 years) with HPP were recruited to participate in the study ...


Investigating Potential Biomarkers In Autism Spectrum Disorder, Carolyn Bridgemohan, David E. Cochran, Andrew W. Zimmerman, Roula N. Choueiri, Jean A. Frazier 2019 Harvard Medical School

Investigating Potential Biomarkers In Autism Spectrum Disorder, Carolyn Bridgemohan, David E. Cochran, Andrew W. Zimmerman, Roula N. Choueiri, Jean A. Frazier

Open Access Publications by UMMS Authors

Background: Early identification and treatment of individuals with autism spectrum disorder (ASD) improves outcomes, but specific evidence needed to individualize treatment recommendations is lacking. Biomarkers that could be routinely measured within the clinical setting could potentially transform clinical care for patients with ASD. This demonstration project employed collection of biomarker data during regular autism specialty clinical visits and explored the relationship of biomarkers with clinical ASD symptoms.

Methods: Eighty-three children with ASD, aged 5-10 years, completed a multi-site feasibility study integrating the collection of biochemical (blood serotonin, urine melatonin sulfate excretion) and clinical (head circumference, dysmorphology exam, digit ratio, cognitive ...


Neurodevelopmental Outcomes Of Infantile Hydrocephalus: An Fmri Case Study, Ikhlas Ahmed Hashi 2019 The University of Western Ontario

Neurodevelopmental Outcomes Of Infantile Hydrocephalus: An Fmri Case Study, Ikhlas Ahmed Hashi

Electronic Thesis and Dissertation Repository

Ventricle dilatation caused by infantile hydrocephalus may result in extensive damage of the posterior cortex (parietal and occipital lobes). We hypothesize that pathological changes in the development of the posterior cortex can be linked to non-verbal learning disabilities in children with previous infantile hydrocephalus. This case study will investigate the neurodevelopmental outcomes of 3 treated hydrocephalus patients, when compared to a group of healthy control children (n = 12). Within the hydrocephalus group, patients displayed differences in non-verbal test performance as well as parietal brain activation during an fMRI number comparison task. We associated these differences with clinical variables such as ...


Barriers And Facilitators To Genetic Testing For Familial Hypercholesterolemia In The United States: A Review, Rachele M. Hendricks-Sturrup, Kathleen M. Mazor, Amy C. Sturm, Christine Y. Lu 2019 Harvard Medical School

Barriers And Facilitators To Genetic Testing For Familial Hypercholesterolemia In The United States: A Review, Rachele M. Hendricks-Sturrup, Kathleen M. Mazor, Amy C. Sturm, Christine Y. Lu

Open Access Publications by UMMS Authors

Familial Hypercholesterolemia (FH) is an underdiagnosed condition in the United States (US) and globally, affecting an estimated 1/250 individuals. It is a genetic risk factor for premature cardiovascular disease and is responsible for an estimated 600,000 to 1.2 million preventable vascular events. Studies show that FH genetic testing can identify a causal gene variant in 60 to 80% of clinically suspected FH cases. However, FH genetic testing is currently underutilized in clinical settings in the US despite clinical recommendations and evidence supporting its use. Reasons for underutilization are not well understood. We conducted a literature review in ...


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 ...


Digital Commons powered by bepress