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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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Knowledge Base Of Adolescents With Congenital Heart Disease, Mark Gelatt, Julie Martin, Jennifer A. Marshall, Jennifer Panuco, Jenea Schmidt, Pamela Finn 2015 Children's Mercy Hospital

Knowledge Base Of Adolescents With Congenital Heart Disease, Mark Gelatt, Julie Martin, Jennifer A. Marshall, Jennifer Panuco, Jenea Schmidt, Pamela Finn

Posters

Introduction:

Most congenital heart disease [CHD] is diagnosed and treated in early childhood with parents responsible for decision-making. The adolescent assumes this role in preparation for transition to an adult congenital heart program. We studied the knowledge base of our adolescent CHD patients and their parents.

Methods:

Established CHD patients, >11 y.o. and their parents, were independently surveyed in the outpatient clinic. Participation was voluntary. Cardiomyopathy, electrophysiology and transplant patients were excluded. Scores were assessed as full, partial or incomplete.

Results:

Most (98% parents; 83% adolescents) reported that their cardiologist had provided education. Adolescents provided a full (49%) and ...


Anthracycline-Related Cardiotoxicity In Patients With Acute Myeloid Leukemia And Down Syndrome: A Literature Review, Erik Hefti, Javier G. Blanco 2015 Harrisburg University of Science and Technology

Anthracycline-Related Cardiotoxicity In Patients With Acute Myeloid Leukemia And Down Syndrome: A Literature Review, Erik Hefti, Javier G. Blanco

Harrisburg University Faculty Works

Pediatric patients with Down syndrome (DS) are at an increased risk of developing certain cancers. Specifically, patients with DS have a reported 10–20-fold increased risk of developing acute myeloid leukemia (AML). Anthracycline-based treatment regimens achieve good results in patients with DS and AML. It has been proposed that DS status constitutes a risk factor for the cardiotoxicity associated with the use of anthracyclines in the pediatric setting. However, published evidence pointing toward an increased risk of cardiotoxicity in patients with DS is relatively scarce and conflictive. This concise review compiles literature relating to the incidence of anthracycline-related cardiotoxicity in ...


Why Are People With Laron Syndrome Immune To Cancer?, Raquel Margolis 2015 Touro College

Why Are People With Laron Syndrome Immune To Cancer?, Raquel Margolis

The Science Journal of the Lander College of Arts and Sciences

Laron syndrome is a congenital autosomal recessive disorder that is caused by a mutation in the growth hormone receptor. People with this syndrome have an insensitivity to growth hormone. Insulin-like growth factor 1 is produced by the liver in response to GH stimulus. It is responsible for systemic GH activities. If there is something wrong with the growth hormone receptor there will be decreased levels of IGF-1. Low IGF-1 levels cause physical deformities notable short stature. Additionally, people with low levels of IGF-1 have a natural resistance to cancer. This article discusses the ways that the decreased levels of IGF-1 ...


Functional Characterization Of Rai1 In Zebrafish, Joshua S. Beach 2015 Virginia Commonwealth University

Functional Characterization Of Rai1 In Zebrafish, Joshua S. Beach

Theses and Dissertations

Smith-Magenis Syndrome (SMS; OMIM #182290) is a multiple congenital abnormality and intellectual disability (ID) disorder caused by either an interstitial deletion of the 17p11.2 region containing the retinoic acid induced-1 (RAI1) gene or a mutation of the RAI1 gene. Individuals diagnosed with SMS typically present characteristics such as ID, self-injurious behavior, sleep disturbance, ocular and otolaryngological abnormalities, craniofacial and skeletal abnormalities, neurological and behavioral abnormalities, as well as other systemic defects and manifestations. Previous work by Vyas in 2009 showed temporal expression of rai1 in zebrafish embryos as early as 9 hpf. We hypothesize that there is maternal rai1 ...


Educator's Implementation Of The Connecticut Guidelines For The Identification And Education Of Children And Youth With Autism, Linda K. Grimm 2015 Andrews University

Educator's Implementation Of The Connecticut Guidelines For The Identification And Education Of Children And Youth With Autism, Linda K. Grimm

Dissertations

The Problem

As the number of children with autism needing educational support continues to increase, combined with the limited availability of resources, this study aims to examine how educators responsible for teaching children with autism have experienced implementation of the Connecticut Guidelines for the Identification and Education of Children and Youth with Autism (2005), (Guidelines). At this time there have been no studies done in the State of Connecticut to assess the implementation of the components for effective education of children with autism, as set forth in the Connecticut Guidelines.

Method

The Connecticut Autism Needs Survey, an on-line self-report survey ...


Pseudomonas Aeruginosa-Induced Bleb-Niche Formation In Epithelial Cells Is Independent Of Actinomyosin Contraction And Enhanced By Loss Of Cystic Fibrosis Transmembrane-Conductance Regulator Osmoregulatory Function, Amber L. Jolly, Desire Takawira, Olufolarin O. Oke, Sarah A. Whiteside, Stephanie W. Chang, Emily R. Wen, David J. Evans 2015 Touro University California

Pseudomonas Aeruginosa-Induced Bleb-Niche Formation In Epithelial Cells Is Independent Of Actinomyosin Contraction And Enhanced By Loss Of Cystic Fibrosis Transmembrane-Conductance Regulator Osmoregulatory Function, Amber L. Jolly, Desire Takawira, Olufolarin O. Oke, Sarah A. Whiteside, Stephanie W. Chang, Emily R. Wen, David J. Evans

Faculty Publications & Research of the TUC College of Pharmacy

The opportunistic pathogen Pseudomonas aeruginosa can infect almost any site in the body but most often targets epithelial cell-lined tissues such as the airways, skin, and the cornea of the eye. A common predisposing factor is cystic fibrosis (CF), caused by defects in the cystic fibrosis transmembrane-conductance regulator (CFTR). Previously, we showed that when P. aeruginosa enters epithelial cells it replicates intracellularly and occupies plasma membrane blebs. This phenotype is dependent on the type 3 secretion system (T3SS) effector ExoS, shown by others to induce host cell apoptosis. Here, we examined mechanisms for P. aeruginosa-induced bleb formation, focusing on its ...


A Calcium-Dependent Protease As A Potential Therapeutic Target For Wolfram Syndrome, Simin Lu, Clay F. Semenkovich, Peter A. Greer, Fumihiko Urano 2014 University of Massachusetts Medical School

A Calcium-Dependent Protease As A Potential Therapeutic Target For Wolfram Syndrome, Simin Lu, Clay F. Semenkovich, Peter A. Greer, Fumihiko Urano

GSBS Student Publications

Wolfram syndrome is a genetic disorder characterized by diabetes and neurodegeneration and considered as an endoplasmic reticulum (ER) disease. Despite the underlying importance of ER dysfunction in Wolfram syndrome and the identification of two causative genes, Wolfram syndrome 1 (WFS1) and Wolfram syndrome 2 (WFS2), a molecular mechanism linking the ER to death of neurons and β cells has not been elucidated. Here we implicate calpain 2 in the mechanism of cell death in Wolfram syndrome. Calpain 2 is negatively regulated by WFS2, and elevated activation of calpain 2 by WFS2-knockdown correlates with cell death. Calpain activation is also induced ...


Rare Presentation Of Pancreatitis Secondary To Intussusception Of Duodenal Duplication Cyst, A Pediatric Case Report, Valentina Shakhnovich, Jennifer Colombo, Amita A. Desai, Shawn D. St Peter 2014 Children's Mercy Hospital

Rare Presentation Of Pancreatitis Secondary To Intussusception Of Duodenal Duplication Cyst, A Pediatric Case Report, Valentina Shakhnovich, Jennifer Colombo, Amita A. Desai, Shawn D. St Peter

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.


Xk Aprosencephaly And Anencephaly In Sibs, Phillip Townes, Karen Reuter, E. Rosquete, B. Magee 2014 University of Massachusetts Medical School

Xk Aprosencephaly And Anencephaly In Sibs, Phillip Townes, Karen Reuter, E. Rosquete, B. Magee

B. Dale Magee

Recent studies have suggested a causal and pathogenetic relationship between holoprosencephaly and anencephaly. In support of the proposed relationship we report a sibship that includes anencephalic male twins and a female infant with a severe form of alobar holoprosencephaly, radial aplasia, and oligodactyly. The upper limb and brain malformations are considered to represent aprosencephaly syndrome. The coexistence of anencephaly and aprosencephaly within a sibship suggests that XK aprosencephaly syndrome may be an autosomal recessive disorder.


Rare Case Of Klinefelters Syndrome With 48xxyy, Vasudev G. Magaji MD, MS, Deborah Feden CRNP, Gretchen Perilli MD 2014 Lehigh Valley Health Network

Rare Case Of Klinefelters Syndrome With 48xxyy, Vasudev G. Magaji Md, Ms, Deborah Feden Crnp, Gretchen Perilli Md

Vasudev G Magaji MD, MS

No abstract provided.


Technical Performance Score Is Associated With Outcomes After The Norwood Procedure., Meena Nathan, Lynn A. Sleeper, Richard G. Ohye, Peter C. Frommelt, Christopher A. Caldarone, James S. Tweddell, Minmin Lu, Gail D. Pearson, J William Gaynor, Christian Pizarro, Ismee A. Williams, Steven D. Colan, Carolyn Dunbar-Masterson, Peter J. Gruber, Kevin Hill, Jennifer Hirsch-Romano, Jeffrey P. Jacobs, Jonathan R. Kaltman, S Ram Kumar, David Morales, Scott M. Bradley, Kirk Kanter, Jane W. Newburger, Pediatric Heart Network Investigators, Girish S. Shirali 2014 Children's Mercy Hospital

Technical Performance Score Is Associated With Outcomes After The Norwood Procedure., Meena Nathan, Lynn A. Sleeper, Richard G. Ohye, Peter C. Frommelt, Christopher A. Caldarone, James S. Tweddell, Minmin Lu, Gail D. Pearson, J William Gaynor, Christian Pizarro, Ismee A. Williams, Steven D. Colan, Carolyn Dunbar-Masterson, Peter J. Gruber, Kevin Hill, Jennifer Hirsch-Romano, Jeffrey P. Jacobs, Jonathan R. Kaltman, S Ram Kumar, David Morales, Scott M. Bradley, Kirk Kanter, Jane W. Newburger, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

Objectives: The technical performance score (TPS) has been reported in a single center study to predict the outcomes after congenital cardiac surgery. We sought to determine the association of the TPS with outcomes in patients undergoing the Norwood procedure in the Single Ventricle Reconstruction trial.

Methods: We calculated the TPS (class 1, optimal; class 2, adequate; class 3, inadequate) according to the predischarge echocardiograms analyzed in a core laboratory and unplanned reinterventions that occurred before discharge from the Norwood hospitalization. Multivariable regression examined the association of the TPS with interval to first extubation, Norwood length of stay, death or transplantation ...


Malignant Hyperthermia, Eric Weberding 2014 Otterbein University

Malignant Hyperthermia, Eric Weberding

Nursing Student Class Projects (Formerly MSN)

Malignant hyperthermia (MH) is an autosomal-dominant disorder that is inherited. The disturbance of calcium homeostasis associated with MH affects skeletal muscle (Schneiderbanger, Johannsen, Roewer, & Schuster, 2014). This hypermetabolic muscular disorder is triggered by exposure to depolarizing muscle relaxants such as succinylcholine or inhaled halogenated volatile anesthetics such as sevoflurane, halothane, desflurane, enflurane, and isoflurane (Stratman, Flynn, & Hatton, 2009). In susceptible individuals, this potentially lethal syndrome may cause hyperthermia, hypercapnia, muscular rigidity, hypoxemia, acidosis, tachycardia, and hyperkalemia (Schneiderbanger et al., 2014).


Impact Of Pre-Stage Ii Hemodynamics And Pulmonary Artery Anatomy On 12-Month Outcomes In The Pediatric Heart Network Single Ventricle Reconstruction Trial., Ranjit Aiyagari, John F. Rhodes, Peter Shrader, Wolfgang A. Radtke, Varsha M. Bandisode, Lisa Bergersen, Matthew J. Gillespie, Robert G. Gray, Lin T. Guey, Kevin D. Hill, Russel Hirsch, Dennis W. Kim, Kyong-Jin Lee, Andrew N. Pelech, Jeremy Ringewald, Cheryl Takao, Julie A. Vincent, Richard G. Ohye, Pediatric Heart Network Investigators, Girish S. Shirali 2014 Children's Mercy Hospital

Impact Of Pre-Stage Ii Hemodynamics And Pulmonary Artery Anatomy On 12-Month Outcomes In The Pediatric Heart Network Single Ventricle Reconstruction Trial., Ranjit Aiyagari, John F. Rhodes, Peter Shrader, Wolfgang A. Radtke, Varsha M. Bandisode, Lisa Bergersen, Matthew J. Gillespie, Robert G. Gray, Lin T. Guey, Kevin D. Hill, Russel Hirsch, Dennis W. Kim, Kyong-Jin Lee, Andrew N. Pelech, Jeremy Ringewald, Cheryl Takao, Julie A. Vincent, Richard G. Ohye, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To compare the interstage cardiac catheterization hemodynamic and angiographic findings between shunt types for the Pediatric Heart Network Single Ventricle Reconstruction trial. The trial, which randomized subjects to a modified Blalock-Taussig shunt (MBTS) or right ventricle-to-pulmonary artery shunt (RVPAS) for the Norwood procedure, demonstrated the RVPAS was associated with a smaller pulmonary artery diameter but superior 12-month transplant-free survival.

METHODS: We analyzed the pre-stage II catheterization data for the trial subjects. The hemodynamic variables and shunt and pulmonary angiographic data were compared between shunt types; their association with 12-month transplant-free survival was also evaluated.

RESULTS: Of 549 randomized subjects ...


Single Point Mutation In Rabenosyn-5 In A Female With Intractable Seizures And Evidence Of Defective Endocytotic Trafficking, Sylvia Stockler, Silvia Corvera, David G. Lambright, Kevin E. Fogarty, Ekaterina Nosova, Deborah Marie Leonard, Robert Steinfeld, Cameron Ackerley, Casper Shyr, Nicolas Au, Kathrin Selby, Margot van Allen, Hilary Vallance, Ron Wevers, David Watkins, David Rosenblatt, Colin J. Ross, Elizabeth Conibear, Wyeth Wasserman, Clara van Karnebeek 2014 University of British Columbia

Single Point Mutation In Rabenosyn-5 In A Female With Intractable Seizures And Evidence Of Defective Endocytotic Trafficking, Sylvia Stockler, Silvia Corvera, David G. Lambright, Kevin E. Fogarty, Ekaterina Nosova, Deborah Marie Leonard, Robert Steinfeld, Cameron Ackerley, Casper Shyr, Nicolas Au, Kathrin Selby, Margot Van Allen, Hilary Vallance, Ron Wevers, David Watkins, David Rosenblatt, Colin J. Ross, Elizabeth Conibear, Wyeth Wasserman, Clara Van Karnebeek

Open Access Publications by UMMS Authors

Background. We report a 6.5 year-old female with a homozygous missense mutation in ZFYVE20, encoding Rabenosyn-5 (Rbsn-5), a highly conserved multi-domain protein implicated in receptor-mediated endocytosis. The clinical presentation includes intractable seizures, developmental delay, microcephaly, dysostosis, osteopenia, craniofacial dysmorphism, macrocytosis and megaloblastoid erythropoiesis. Biochemical findings include transient cobalamin deficiency, severe hypertriglyceridemia upon ketogenic diet, microalbuminuria and partial cathepsin D deficiency.

Methods and results. Whole exome sequencing followed by Sanger sequencing confirmed a rare (frequency:0.003987) homozygous missense mutation, g.15,116,371 G inverted question mark > inverted question markA (c.1273G inverted question mark > inverted question markA), in ...


Inpatient Admissions And Costs Of Congenital Heart Disease From Adolescence To Young Adulthood, Yang Lu, Garima Agrawal, Chia-Wei Lin, Roberta Williams 2014 Harbor UCLA Medical Center

Inpatient Admissions And Costs Of Congenital Heart Disease From Adolescence To Young Adulthood, Yang Lu, Garima Agrawal, Chia-Wei Lin, Roberta Williams

Yang Lu

Background. Health care utilization patterns and associated costs of congenital heart disease (CHD) in young adulthood are not well understood.

Methods. California State Inpatient Databases 2005 to 2009 were used to conduct a retrospective study on inpatient admissions of CHD patients 10 to 29 years old (n = 7,419) and of all patients of the same age (n = 1,195,233).

Results. Compared with all patients, annual admission costs of CHD patients monotonically decreased, from $13.9 million at age 10 to 14 years to $7.2 million at age 25 to 29 years, which were due to lower costs ...


Factors Associated With Neurodevelopment For Children With Single Ventricle Lesions., Caren S. Goldberg, Minmin Lu, Lynn A. Sleeper, William T. Mahle, J William Gaynor, Ismee A. Williams, Kathleen A. Mussatto, Richard G. Ohye, Eric M. Graham, Deborah U. Frank, Jeffrey P. Jacobs, Catherine Krawczeski, Linda Lambert, Alan Lewis, Victoria L. Pemberton, Renee Sananes, Erica Sood, Stephanie B. Wechsler, David C. Bellinger, Jane W. Newburger, Pediatric Heart Network Investigators, Girish S. Shirali 2014 Children's Mercy Hospital

Factors Associated With Neurodevelopment For Children With Single Ventricle Lesions., Caren S. Goldberg, Minmin Lu, Lynn A. Sleeper, William T. Mahle, J William Gaynor, Ismee A. Williams, Kathleen A. Mussatto, Richard G. Ohye, Eric M. Graham, Deborah U. Frank, Jeffrey P. Jacobs, Catherine Krawczeski, Linda Lambert, Alan Lewis, Victoria L. Pemberton, Renee Sananes, Erica Sood, Stephanie B. Wechsler, David C. Bellinger, Jane W. Newburger, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To measure neurodevelopment at 3 years of age in children with single right-ventricle anomalies and to assess its relationship to Norwood shunt type, neurodevelopment at 14 months of age, and patient and medical factors.

STUDY DESIGN: All subjects in the Single Ventricle Reconstruction Trial who were alive without cardiac transplant were eligible for inclusion. The Ages and Stages Questionnaire (ASQ, n = 203) and other measures of behavior and quality of life were completed at age 3 years. Medical history, including measures of growth, feeding, and complications, was assessed through annual review of the records and phone interviews. The Bayley ...


Functional Health Status In Children And Adolescents After Fontan: Comparison Of Generic And Disease-Specific Assessments., Brian W. McCrindle, Victor Zak, Victoria L. Pemberton, Linda M. Lambert, Victoria L. Vetter, Wyman W. Lai, Karen Uzark, Renee Margossian, Andrew M. Atz, Amanda Cook, Jane W. Newburger, Pediatric Heart Network Investigators, Girish S. Shirali 2014 Children's Mercy Hospital

Functional Health Status In Children And Adolescents After Fontan: Comparison Of Generic And Disease-Specific Assessments., Brian W. Mccrindle, Victor Zak, Victoria L. Pemberton, Linda M. Lambert, Victoria L. Vetter, Wyman W. Lai, Karen Uzark, Renee Margossian, Andrew M. Atz, Amanda Cook, Jane W. Newburger, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: The aim of this study was to compare associations between generic versus disease-specific functional health status assessments and patient and clinical characteristics for patients with severe congenital heart disease.

METHODS: This was a cross-sectional observational study involving 325 single ventricle patients, aged 10-18 years, after Fontan procedure. Enrolled patients underwent a medical history review, laboratory testing, and assessment of the functional health status by completion of the generic Child Report Child Health Questionnaire and the disease-specific Congenital Heart Adolescent and Teenage questionnaire. Correlated conceptually equivalent domains from both questionnaires were identified and their associations with patient and clinical variables ...


Rare Case Of Klinefelters Syndrome With 48xxyy, Vasudev G. Magaji MD, MS, Deborah Feden CRNP, Gretchen Perilli MD 2014 Lehigh Valley Health Network

Rare Case Of Klinefelters Syndrome With 48xxyy, Vasudev G. Magaji Md, Ms, Deborah Feden Crnp, Gretchen Perilli Md

Department of Medicine

No abstract provided.


Congenital Pituitary Stalk Deformity, Maura Bucciarelli DO, Gretchen Perilli MD 2014 Lehigh Valley Health Network

Congenital Pituitary Stalk Deformity, Maura Bucciarelli Do, Gretchen Perilli Md

Department of Medicine

No abstract provided.


The Health-Related Quality Of Life Of Adults With Down Syndrome, Rebecca Jermyn Graves 2014 University of Tennessee Health Science Center

The Health-Related Quality Of Life Of Adults With Down Syndrome, Rebecca Jermyn Graves

Theses and Dissertations (ETD)

Purpose. The purpose of this study was to examine the health-related quality of life (HRQOL) and factors associated with the HRQOL of adults with Down syndrome (DS) as reported by adults with DS and their caregivers. The study was designed to compare measures of HRQOL, health problems, health risks, and health-care utilization of adults with DS based on self-report with those from caregiver-report and to explore associations between HRQOL and health problems, health risks, health-care utilization, adaptive behavior, and demographic characteristics. Background. The life expectancy of individuals with DS has lengthened from approximately 30 years around 1960 to over 50 ...


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