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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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604 full-text articles. Page 3 of 26.

Bcl11a Enhancer Edited Hematopoietic Stem Cells Persist In Rhesus Monkeys Without Toxicity, Selami Demirci, Jing Zeng, Yuxuan Wu, Naoya Uchida, Anne H. Shen, Danilo Pellin, Jackson Gamer, Morgan Yapundich, Claire Drysdale, Jasmine Bonanno, Aylin C. Bonifacino, Allen Krouse, Nathaniel Seth. Linde, Theresa Engels, Robert E. Donahue, Juan J. Haro-Mora, Alexis Leonard, Tina Nassehi, Kevin Luk, Shaina N. Porter, Cicera R. Lazzarotto, Shengdar Q. Tsai, Mitchell Weiss, Shondra M. Pruett-Miller, Scot A. Wolfe, Daniel E. Bauer, John F. Tisdale 2020 National Institutes of Health

Bcl11a Enhancer Edited Hematopoietic Stem Cells Persist In Rhesus Monkeys Without Toxicity, Selami Demirci, Jing Zeng, Yuxuan Wu, Naoya Uchida, Anne H. Shen, Danilo Pellin, Jackson Gamer, Morgan Yapundich, Claire Drysdale, Jasmine Bonanno, Aylin C. Bonifacino, Allen Krouse, Nathaniel Seth. Linde, Theresa Engels, Robert E. Donahue, Juan J. Haro-Mora, Alexis Leonard, Tina Nassehi, Kevin Luk, Shaina N. Porter, Cicera R. Lazzarotto, Shengdar Q. Tsai, Mitchell Weiss, Shondra M. Pruett-Miller, Scot A. Wolfe, Daniel E. Bauer, John F. Tisdale

Open Access Publications by UMMS Authors

Gene editing of the erythroid-specific BCL11A enhancer in hematopoietic stem and progenitor cells (HSPCs) from sickle cell disease (SCD) patients induces fetal hemoglobin (HbF) without detectable toxicity as assessed by mouse xenotransplant. Here, we evaluated autologous engraftment and HbF induction potential of erythroid-specific BCL11A enhancer edited HSPCs in four non-human primates. We utilized a single guide RNA (sgRNA) with identical human and rhesus target sequences to disrupt a GATA1 binding site at the BCL11A +58 erythroid enhancer. Cas9 protein and sgRNA ribonucleoprotein complex (RNP) was electroporated into rhesus HSPCs, followed by autologous infusion after myeloablation. We found that gene edits ...


Flash Pulmonary Edema: A Case And Review Of Left Ventricular Non-Compaction Cardiomyopathy, Paula J. Watts, Oliver S. Garbo, Wendy Barrett, Michael Kopstein, Ryan Maybrook, Dmitriy Scherbak 2020 HCA Health One - Sky Ridge Medical Center

Flash Pulmonary Edema: A Case And Review Of Left Ventricular Non-Compaction Cardiomyopathy, Paula J. Watts, Oliver S. Garbo, Wendy Barrett, Michael Kopstein, Ryan Maybrook, Dmitriy Scherbak

HCA Healthcare Journal of Medicine

Left ventricular non-compaction cardiomyopathy is an uncommon type of cardiomyopathy caused by malformation of the myocardium during embryogenesis. This results in trabeculations within the ventricular wall that can affect the left and, less commonly, right ventricles. Presentation ranges from clinically asymptomatic to life-threatening arrhythmias. It is a rare and relatively unknown form of cardiomyopathy, though thought to be underdiagnosed. Prevalence is increasing due to improvements in imaging and awareness. Management is similar to that of other cardiomyopathies including angiotensin-converting-enzyme inhibitors or angiotensin receptor blockers, beta-blockers, diuretics, automatic implantable cardioverter defibrillator placement and cardiac transplantation. We present a case of a ...


Natural Variation In A Glucuronosyltransferase Modulates Propionate Sensitivity In A C. Elegans Propionic Acidemia Model, Huimin Na, Stefan Zdraljevic, Robyn E. Tanny, Albertha J. M. Walhout, Erik C. Andersen 2020 University of Massachusetts Medical School

Natural Variation In A Glucuronosyltransferase Modulates Propionate Sensitivity In A C. Elegans Propionic Acidemia Model, Huimin Na, Stefan Zdraljevic, Robyn E. Tanny, Albertha J. M. Walhout, Erik C. Andersen

Open Access Publications by UMMS Authors

Mutations in human metabolic genes can lead to rare diseases known as inborn errors of human metabolism. For instance, patients with loss-of-function mutations in either subunit of propionyl-CoA carboxylase suffer from propionic acidemia because they cannot catabolize propionate, leading to its harmful accumulation. Both the penetrance and expressivity of metabolic disorders can be modulated by genetic background. However, modifiers of these diseases are difficult to identify because of the lack of statistical power for rare diseases in human genetics. Here, we use a model of propionic acidemia in the nematode Caenorhabditis elegans to identify genetic modifiers of propionate sensitivity. Using ...


Incidental Discovery Of Anomalous Left Coronary Artery Arising From The Pulmonary Artery In A Coronavirus Disease-2019 Patient: A Blessing In Disguise, Masood Ghori, Rizwan Ahmed 2020 Sheikh Khalifa Medical City ,Abu Dhabi,United Arab Emirates

Incidental Discovery Of Anomalous Left Coronary Artery Arising From The Pulmonary Artery In A Coronavirus Disease-2019 Patient: A Blessing In Disguise, Masood Ghori, Rizwan Ahmed

Journal of the Saudi Heart Association

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a serious congenital malformation. Reports about asymptomatic, incidentally discovered ALCAPA in adults are scarce. We describe a patient with no known pre-existing cardiac condition admitted to our hospital with coronavirus disease 2019 (COVID-19) and was incidentally found to have ALCAPA. To the best of our knowledge, this is the first reported case of incidentally discovered ALCAPA in a COVID-19 patient and highlights the importance of appropriate investigation of the coronary status by Multidetector Cardiac Computed Tomographic Angiography (MDCCTA) in individuals with asymptomatic left ventricular dysfunction. The presentation ...


Upregulating Beta-Hexosaminidase Activity In Rodents Prevents Alpha-Synuclein Lipid Associations And Protects Dopaminergic Neurons From Alpha-Synuclein-Mediated Neurotoxicity, Oeystein R. Brekk, Joanna A. Korecka, Cecile C. Crapart, Mylene Huebecker, Zachary K. MacBain, Sara Ann Rosenthal, Miguel Sena-Esteves, David A. Priestman, Frances M. Platt, Ole Isacson, Penelope J. Hallett 2020 Harvard Medical School

Upregulating Beta-Hexosaminidase Activity In Rodents Prevents Alpha-Synuclein Lipid Associations And Protects Dopaminergic Neurons From Alpha-Synuclein-Mediated Neurotoxicity, Oeystein R. Brekk, Joanna A. Korecka, Cecile C. Crapart, Mylene Huebecker, Zachary K. Macbain, Sara Ann Rosenthal, Miguel Sena-Esteves, David A. Priestman, Frances M. Platt, Ole Isacson, Penelope J. Hallett

Open Access Publications by UMMS Authors

Sandhoff disease (SD) is a lysosomal storage disease, caused by loss of beta-hexosaminidase (HEX) activity resulting in the accumulation of ganglioside GM2. There are shared features between SD and Parkinson's disease (PD). alpha-synuclein (aSYN) inclusions, the diagnostic hallmark sign of PD, are frequently found in the brain in SD patients and HEX knockout mice, and HEX activity is reduced in the substantia nigra in PD. In this study, we biochemically demonstrate that HEX deficiency in mice causes formation of high-molecular weight (HMW) aSYN and ubiquitin in the brain. As expected from HEX enzymatic function requirements, overexpression in vivo of ...


Fosl1 Is A Novel Mediator Of Endotoxin/Lipopolysaccharide-Induced Pulmonary Angiogenic Signaling., Christopher R. Nitkin, Sheng Xia, Heather Menden, Wei Yu, Min Xiong, Daniel P. Heruth, Shui Qing Ye, Venkatesh Sampath 2020 Children's Mercy Hospital

Fosl1 Is A Novel Mediator Of Endotoxin/Lipopolysaccharide-Induced Pulmonary Angiogenic Signaling., Christopher R. Nitkin, Sheng Xia, Heather Menden, Wei Yu, Min Xiong, Daniel P. Heruth, Shui Qing Ye, Venkatesh Sampath

Manuscripts, Articles, Book Chapters and Other Papers

Systemic sepsis is a known risk factor for bronchopulmonary dysplasia (BPD) in premature infants, a disease characterized by dysregulated angiogenesis and impaired vascular and alveolar development. We have previoulsy reported that systemic endotoxin dysregulates pulmonary angiogenesis resulting in alveolar simplification mimicking BPD in neonatal mice, but the underlying mechanisms remain unclear. We undertook an unbiased discovery approach to identify novel signaling pathways programming sepsis-induced deviant lung angiogenesis. Pulmonary endothelial cells (EC) were isolated for RNA-Seq from newborn C57BL/6 mice treated with intraperitoneal lipopolysaccharide (LPS) to mimic systemic sepsis. LPS significantly differentially-regulated 269 genes after 6 h, and 1,934 ...


Gain-Of-Function Variants And Overexpression Of Runx2 In Patients With Nonsyndromic Midline Craniosynostosis, Araceli Cuellar, Krithi Bala, Lorena Di Pietro, Marta Barba, Garima Yagnik, Jia Lie Liu, Christina Stevens, David J. Hur, Roxann G. Ingersoll, Cristina M. Justice, Hicham Drissi, Jinoh Kim, Wanda Lattanzi, Simeon A. Boyadjiev 2020 University of California Davis School of Medicine

Gain-Of-Function Variants And Overexpression Of Runx2 In Patients With Nonsyndromic Midline Craniosynostosis, Araceli Cuellar, Krithi Bala, Lorena Di Pietro, Marta Barba, Garima Yagnik, Jia Lie Liu, Christina Stevens, David J. Hur, Roxann G. Ingersoll, Cristina M. Justice, Hicham Drissi, Jinoh Kim, Wanda Lattanzi, Simeon A. Boyadjiev

Biomedical Sciences Publications

Craniosynostosis (CS), the premature fusion of one or more cranial sutures, is a relatively common congenital anomaly, occurring in 3–5 per 10,000 live births. Nonsyndromic CS (NCS) accounts for up to 80% of all CS cases, yet the genetic factors contributing to the disorder remain largely unknown. The RUNX2 gene, encoding a transcription factor critical for bone and skull development, is a well known CS candidate gene, as copy number variations of this gene locus have been found in patients with syndromic craniosynostosis. In the present study, we aimed to characterize RUNX2 to better understand its role in ...


Nutrient Sensing Pathways Mediating Igfbp1 Phosphorylation In Fgr, Shapnil Bhuiyan 2020 The University of Western Ontario

Nutrient Sensing Pathways Mediating Igfbp1 Phosphorylation In Fgr, Shapnil Bhuiyan

Electronic Thesis and Dissertation Repository

Impairment of fetal oxygen levels and nutrient delivery contributes to fetal growth restriction (FGR), which affects 20% of pregnancies. Such cellular stress induces hepatic Insulin-like Growth Factor Binding Protein 1 (IGFBP1) phosphorylation, which sequesters Insulin-like Growth Factor 1 (IGF-I) and markedly reduces fetal growth signaling. IGFBP1 hyperphosphoryaltion in hypoxia is mediated through the mTOR signaling pathway and through the Amino Acid Response (AAR) pathway during amino acid deprivation. Hypoxia stimulates upstream mTORC1 regulators, AMPK and REDD1 which are well-established upstream regulators of one of the two mTOR complexes, mTORC1. The molecular mechanisms by which upstream mTORC1-driven processes regulate IGFBP1 phosphorylation ...


Lower Ca2+ Enhances The K+-Induced Force Depression In Normal And Hyperkpp Mouse Muscles, Francine Uwera, Tarek Ammar, Callum McRae, Lawrence J. Hayward, Jean-Marc Renaud 2020 University of Ottawa

Lower Ca2+ Enhances The K+-Induced Force Depression In Normal And Hyperkpp Mouse Muscles, Francine Uwera, Tarek Ammar, Callum Mcrae, Lawrence J. Hayward, Jean-Marc Renaud

Neurology Publications

Hyperkalemic periodic paralysis (HyperKPP) manifests as stiffness or subclinical myotonic discharges before or during periods of episodic muscle weakness or paralysis. Ingestion of Ca2+ alleviates HyperKPP symptoms, but the mechanism is unknown because lowering extracellular [Ca2+] ([Ca2+]e) has no effect on force development in normal muscles under normal conditions. Lowering [Ca2+]e, however, is known to increase the inactivation of voltage-gated cation channels, especially when the membrane is depolarized. Two hypotheses were tested: (1) lowering [Ca2+]e depresses force in normal muscles under conditions that depolarize the cell membrane; and (2) HyperKPP muscles have a greater sensitivity to low ...


Schizophrenia And Genomics, Tiffini Lasch 2020 Otterbein University

Schizophrenia And Genomics, Tiffini Lasch

Nursing Student Class Projects (Formerly MSN)

There are several advancements in genomics under specific categories, such as cancer and autism. Mental health is one of the leading diseases to cause a significant debt burden in today's society. However, genomics has not translated well into mental health treatment. One area of focus is schizophrenia. Those with schizophrenia suffer from severe and devastating symptoms. The symptoms can lead to harsh complications. Which can make it impossible to function in everyday life. Many believe it is not just genetics alone, but also environmental factors that contribute to schizophrenia. Through large genome-wide associated studies, discoveries are being made. There ...


Prognostic Factors For Changes In The Timed 4-Stair Climb In Patients With Duchenne Muscular Dystrophy, And Implications For Measuring Drug Efficacy: A Multi-Institutional Collaboration, Nathalie Goemans, Brenda L. Wong, Marleen Van den Hauwe, James Signorovitch, Gautam Sajeev, David Cox, John Landry, Madeline Jenkins, Ibrahima Dieye, Zhiwen Yao, Intekhab Hossain, Susan J. Ward 2020 University Hospitals Leuven

Prognostic Factors For Changes In The Timed 4-Stair Climb In Patients With Duchenne Muscular Dystrophy, And Implications For Measuring Drug Efficacy: A Multi-Institutional Collaboration, Nathalie Goemans, Brenda L. Wong, Marleen Van Den Hauwe, James Signorovitch, Gautam Sajeev, David Cox, John Landry, Madeline Jenkins, Ibrahima Dieye, Zhiwen Yao, Intekhab Hossain, Susan J. Ward

Open Access Publications by UMMS Authors

The timed 4-stair climb (4SC) assessment has been used to measure function in Duchenne muscular dystrophy (DMD) practice and research. We sought to identify prognostic factors for changes in 4SC, assess their consistency across data sources, and the extent to which prognostic scores could be useful in DMD clinical trial design and analysis. Data from patients with DMD in the placebo arm of a phase 3 trial (Tadalafil DMD trial) and two real-world sources (Universitaire Ziekenhuizen, Leuven, Belgium [Leuven] and Cincinnati Children's Hospital Medical Center [CCHMC]) were analyzed. One-year changes in 4SC completion time and velocity (stairs/second) were ...


A Case Of Simpson-Golabi-Behmel Syndrome Presenting With Cutaneous Findings, Tessa B. Mullins, Abigail Russell, Chad Johnston 2020 HCA Healthcare

A Case Of Simpson-Golabi-Behmel Syndrome Presenting With Cutaneous Findings, Tessa B. Mullins, Abigail Russell, Chad Johnston

Capital Division Virtual Research Day 2020

Simpson-Golabi-Behmelsyndrome is a rare, X-linked recessive syndrome associated with mutations in the genes encoding glypican 3 (GPC3). The majority of cases have been described in pediatric males, with those affected showing manifestations of overgrowth, congenital heart defects, and increased incidence of neoplasia. Due to the X-linked nature of this disorder, penetrance is not well understood in female cases. Very few cases of female presentations of Simpson-Golabi-Behmelsyndrome have been described. We present a case of GPC3 gene mutation suggestive of Simpson-Golabi-Behmelsyndrome in an adult female patient, diagnosed based on genetic testing performed due to a diagnosis of sebaceous carcinoma.


Atrioventricular Nodal Reentrant Tachycardia In Patients With Complex Congenital Heart Disease And Twin Atrioventricular Nodes., John Papagiannis, Christopher Mathis, Lindsey Malloy-Walton, Svjetlana Tisma-Dupanovic 2020 Children's Mercy Hospital

Atrioventricular Nodal Reentrant Tachycardia In Patients With Complex Congenital Heart Disease And Twin Atrioventricular Nodes., John Papagiannis, Christopher Mathis, Lindsey Malloy-Walton, Svjetlana Tisma-Dupanovic

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.


Similac Special Care And Elecare Cause Neonatal Gut Injury In Mice, Karishma Rao, Heather L. Menden, Wei Yu, Inamul Haque, Susana Chavez-Bueno, Alain C. Cuna, Shahid Umar, Venkatesh Sampath 2020 CMH

Similac Special Care And Elecare Cause Neonatal Gut Injury In Mice, Karishma Rao, Heather L. Menden, Wei Yu, Inamul Haque, Susana Chavez-Bueno, Alain C. Cuna, Shahid Umar, Venkatesh Sampath

Research Days

No abstract provided.


Clinical Validation And Diagnostic Rate/Outcomes Of A Dual Molecular Diagnostic Assay For Myotonic Dystrophy 1., Maxime Cadieux-Dion, Isabelle Thiffault, Midhat S. Farooqi, Joseph Alaimo 2020 Children's Mercy Hospital

Clinical Validation And Diagnostic Rate/Outcomes Of A Dual Molecular Diagnostic Assay For Myotonic Dystrophy 1., Maxime Cadieux-Dion, Isabelle Thiffault, Midhat S. Farooqi, Joseph Alaimo

Research Days

No abstract provided.


Two Cases Of Severe Combined Immunodeficiency Disease With No Known Variants Identified In Genes Associated With Immunodeficiencies, Megan H. Tucker 2020 Children's Mercy Kansas City

Two Cases Of Severe Combined Immunodeficiency Disease With No Known Variants Identified In Genes Associated With Immunodeficiencies, Megan H. Tucker

Research Days

No abstract provided.


Fmrp Links Optimal Codons To Mrna Stability In Neurons [Preprint], Huan Shu, Elisa Donnard, Botao Liu, Ruijia Wang, Joel D. Richter 2020 University of Massachusetts Medical School

Fmrp Links Optimal Codons To Mrna Stability In Neurons [Preprint], Huan Shu, Elisa Donnard, Botao Liu, Ruijia Wang, Joel D. Richter

University of Massachusetts Medical School Faculty Publications

Fragile X syndrome (FXS) is caused by inactivation of the FMR1 gene and loss of encoded FMRP, an RNA binding protein that represses translation of some of its target transcripts. Here we use ribosome profiling and RNA-seq to investigate the dysregulation of translation in the mouse brain cortex. We find that most changes in ribosome occupancy on hundreds of mRNAs are largely driven by dysregulation in transcript abundance. Many downregulated mRNAs, which are mostly responsible for neuronal and synaptic functions, are highly enriched for FMRP binding targets. RNA metabolic labeling demonstrates that in FMRP-deficient cortical neurons, mRNA downregulation is caused ...


Complications And Management In Pediatric Heart Surgery, Hannah Berndt 2020 University of Arkansas, Fayetteville

Complications And Management In Pediatric Heart Surgery, Hannah Berndt

The Eleanor Mann School of Nursing Undergraduate Honors Theses

The purpose of this literature review is to evaluate current research surrounding management of pediatric patients after cardiac surgery. Acute kidney injury (AKI) and neurodevelopmental deficits are the main discussion topics. This review analyzes the causes, risk factors, and effects of AKI. The diagnostic and management methods surrounding AKI are compared, and diagnostic approaches such as serum Cystatin C and fibroblast growth factor 23 are analyzed as potential future replacements to serum creatinine. The modality of renal replacement therapy is evaluated, and early initiation of peritoneal dialysis is preferred. This review discusses the most common causes, effects, and management of ...


Polysubstance Exposure And Its Relationship To Pharmacological Treatment Characteristics, Parker Miller 2020 East Tennessee State University

Polysubstance Exposure And Its Relationship To Pharmacological Treatment Characteristics, Parker Miller

Undergraduate Honors Theses

Neonatal Abstinence Syndrome (NAS) remains an ever-growing public health issue and a continued avenue for future research. The research question for this retrospective study was whether polysubstance exposure is related to the dose of medication the infant received or to the number of opioid-medications required to treat the infants’ withdrawal symptoms? The hypothesis for the retrospective study was there will be a significant relationship between polysubstance exposure and the dose of medication the infant received as well as the number of opioid-medications required to treat the infants’ withdrawal symptoms. A bivariate correlational indicated that there was not a significant association ...


The Educational Needs Of Children Ages 0-5 Born With Neonatal Abstinence Syndrome In Maine, Julia Casey 2020 University of Maine

The Educational Needs Of Children Ages 0-5 Born With Neonatal Abstinence Syndrome In Maine, Julia Casey

Honors College

The goal of this study is to better understand the educational needs of children born with neonatal abstinence syndrome (NAS) in Maine. This study will consider two questions. First, what is currently being done to help children born with NAS in Maine? To answer this question, I looked into previous studies that evaluate the needs of children born with prenatal drug exposure. I also looked into Maine’s Strategic Action Opioid Plan to determine what initiatives the state is taking towards helping these children. Second, what should Maine be doing to help the children born with NAS? To answer this ...


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