Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

High Incidence Of Fracture Events In Patients With Long-Gap Esophageal Atresia (Lgea): A Retrospective Review Prompting Implementation Of Standardized Protocol., Sigrid Bairdain, Brenda Dodson, David Zurakowski, Lawrence Rhein, Brian D Snyder, Melissa Putman, Russell W Jennings

Surgery Faculty Publications

PURPOSE: To identify factors associated with an increased risk of fractures in Long-Gap Esophageal Atresia (LGEA) patients. Following implementation of a risk-stratified program, we hypothesized a reduction in fracture incidence within this potentially high-risk population.

METHODS: A retrospective review of LGEA-patients admitted between 2005 and 2014 was conducted. Symptomatic fractures with radiographic confirmation were defined as events. Univariate and multivariable analysis evaluated factors including admission weight-for-age z-score, primary versus secondary Foker process (FP), weight at Foker Stage I, days and episodes of paralysis, number of parenteral nutrition (PN) days, cumulative dose of loop diuretics adjusted for body weight and days …

Geographic Distribution Of Infant Death During Birth Hospitalization And Maternal Group B Streptococcus Colonization: Eastern Wisconsin, Jessica J.F. Kram, Dennis J. Baumgardner, Kiley A. Bernhard, Melissa A. Lemke

Journal of Patient-Centered Research and Reviews

Background: Neonatal death rate in the United States is 4/1,000 live births; infant death rate is 6/1,000. Group B Streptococcus (GBS) may be transmitted from a colonized mother (rates vary from 15% to 35%) to the newborn during a vaginal delivery, and may contribute to neonatal death.

Purpose: To explore the geographic distribution and associated risk factors for maternal GBS colonization and infant death prior to discharge in eastern Wisconsin births.

Methods: Retrospective study of institutional data from PeriData.net, a comprehensive birth registry, utilizing data from 2007 through 2013 at all Aurora medical centers. Categorical variables were analyzed with chi-square …

Neonatal Presentation Of An Air-Filled Neck Mass That Enlarges With Valsalva: A Case Report., Jasminkumar Bharatbhai Patel, Howard Kilbride, Lorien Paulson

Manuscripts, Articles, Book Chapters and Other Papers

Branchial cleft cysts are common causes of congenital neck masses in the pediatric population. However, neonatal presentation of branchial cleft cysts is uncommon, but recognizable secondary to acute respiratory distress from airway compression or complications secondary to infection. We report a 1-day-old infant presenting with an air-filled neck mass that enlarged with Valsalva and was not associated with respiratory distress. The infant was found to have a third branchial cleft cyst with an internal opening into the pyriform sinus. The cyst was conservatively managed with endoscopic surgical decompression and cauterization of the tract and opening. We review the embryology of …

Speckle-Tracking Echocardiographic Measures Of Right Ventricular Function Correlate With Improvement In Exercise Function After Percutaneous Pulmonary Valve Implantation., Shahryar M. Chowdhury, Ziyad M. Hijazi, John T. Fahey, John F. Rhodes, Saibal Kar, Raj Makkar, Michael Mullen, Qi-Ling Cao, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Speckle-tracking echocardiographic (STE) measures of right ventricular (RV) function appear to improve after transcatheter pulmonary valve implantation (TPVI). Measures of exercise function, such as ventilatory efficiency (the minute ventilation [VE]/carbon dioxide production [VCO2] slope), have been shown to be prognostic of mortality in patients who may require TPVI. The aim of this study was to evaluate the correlation between STE measures of RV function and changes in VE/VCO2 after TPVI.

METHODS: Speckle-tracking echocardiography and cardiopulmonary exercise testing were performed at baseline and 6 months after TPVI in 24 patients from four centers. Conventional echocardiographic measures of RV function were …

Relationships Between Age And White Matter Integrity In Children With Phenylketonuria, Erika M. Wesonga

Arts & Sciences Electronic Theses and Dissertations

Objective: Phenylketonuria (PKU) is a hereditary metabolic disorder associated with cognitive compromise. Diffusion tensor imaging (DTI) has allowed detection of poorer microstructural white matter integrity in children with PKU, with decreased mean diffusivity (MD) in comparison with healthy children. However, very little research has been conducted to examine the trajectory of white matter development in this population. The present study investigated potential differences in the developmental trajectory of MD between children with early- and continuously-treated PKU and healthy children across a range of brain regions.

Methods: Children with PKU (n = 31, mean age = 12.2 years) were …

Screening For G6pd Deficiency Among Neonates With Neonatal Jaundice Admitted To Tertiary Care Center: A Need In Disguise, Kishwer Kumar, Arjumand Sohaila, Shiyam Sunder Tikmani, Iqtidar Ahmed Khan, Anila Zafar

Department of Paediatrics and Child Health

This study was conducted to determine the association of Glucose-6-Phosphate Dehydrogenase (G-6-PD) deficiency among neonates admitted with jaundice at the neonatal intensive care unit, well baby nursery and neonatal step down nursery of the Aga Khan University Hospital, Karachi, Pakistan, from January to June 2010. A total of 205 neonates following the selection criteria were included. All selected neonates have their venous blood drawn, saved in EDTA bottle and sent to laboratory of The Aga Khan University Hospital (AKUH). The laboratory results of whether G-6-PD deficiency was present or not was recorded in the proforma. G-6-PD was deficient in 19 …

Ankyrin-B And Mtor Complex 1 In The Regulation Of Electrical Activities In The Heart, Henry C. Wu, Henry C. Wu

Dissertations & Theses (Open Access)

The mammalian target of rapamycin complex 1 (mTORC1) activity is paramount in the regulation of electrical activities in the brain and the heart. In the brain, the tumor suppressor gene TSC2 encodes the protein product tuberin that interacts with hamartin to form a heterodimer Tuberous Sclerosis Complex (TSC) that regulates mTORC1. When TSC2 is disrupted, mTORC1 activity becomes dysregulated resulting in abnormal electrical activities in the brain manifesting in the form of epileptic seizures. In the heart, mTORC1 activity is triggered by a sustained increase in hemodynamic pressure causing the heart to electrically remodel. A likely candidate serving as the …

Scarnas Regulate Splicing And Vertebrate Heart Development., Prakash Patil, Nataliya Kibiryeva, Tamayo Uechi, Jennifer A. Marshall, James E. O'Brien, Michael Artman, Naoya Kenmochi, Douglas C. Bittel

Manuscripts, Articles, Book Chapters and Other Papers

Alternative splicing (AS) plays an important role in regulating mammalian heart development, but a link between misregulated splicing and congenital heart defects (CHDs) has not been shown. We reported that more than 50% of genes associated with heart development were alternatively spliced in the right ventricle (RV) of infants with tetralogy of Fallot (TOF). Moreover, there was a significant decrease in the level of 12 small cajal body-specific RNAs (scaRNAs) that direct the biochemical modification of specific nucleotides in spliceosomal RNAs. We sought to determine if scaRNA levels influence patterns of AS and heart development. We used primary cells derived …

Marfan Syndrome In Athletes, Chelsey Hastings

Nursing Student Class Projects (Formerly MSN)

Genetic disorders are widely misunderstood in our society and can lead to early mortality. Marfan syndrome (MFS) is a genetic disorder that affects connective tissue (Harris, Croce, & Tian, 2014). Antoine Marfan, a French pediatrician, first described this disease in 1896 (Elshershari & Harris, 2014). MFS can manifest in several different organ systems. The cardiovascular complications of aortic dilation and dissection often account for the morbidity associated with this disease (Harris et al., 2014). Understanding the inheritance, pathophysiology, and treatment of MFS is important for the advanced practice nurse (APN). Prevalence of the disease is approximately two per 10,000 individuals, …

Malignant Hyperthermia, Hailey Jones

Nursing Student Class Projects (Formerly MSN)

According to the Malignant Hyperthermia Association of the United States (2015), “Malignant hyperthermia (MH) is a potentially fatal, inherited disorder usually associated with the administration of certain general anesthetics and/or the drug succinylcholine.” Malignant hyperthermia has been presented to me during hospital skills days over the past year due to the increased need for knowledge regarding this topic. I choose this topic because I find it interesting due to the fact that I could encounter this in the remainder of my days in the intensive care unit, but most importantly because I will be dealing with these drugs on a …

Nonimmune Hydrops Fetalis, Heather Walker

Nursing Student Class Projects (Formerly MSN)

Hydrops fetalis is an excessive accumulation of fluid within the fetal extravascular compartments and body cavities generally characterized by: •placental enlargement •ascites •pericardial effusions •pleural effusions (Bellini, 2014, p. 1082). Nonimmune hydrops fetalis (NIHF) develops as a result of one or more nonimmune factors, distinguishing it from immune hydrops fetalis that results from a maternal antigen-body fetal antigen-mediated red blood cell hemolysis (Randenberg, 2010, p. 281).

Understanding Hereditary Hemochromatosis, Kari Davidson

Nursing Student Class Projects (Formerly MSN)

One of the most common genetic diseases, hereditary hemochromatosis is a disruption of iron regulation in the body. Its geographic distribution is worldwide, but it is most common in those of northern European origin. (Roach and Di Palma, 2012). Occurrence is rare in other racial or ethnic groups. (Emanuele, Tuason, & Edwards, 2014). Symptoms are due to significant iron overload, normally as a result of HFE gene mutation. (Centers for Disease Control and Prevention, 2010). The HFE gene plays an important role in regulating iron absorption in the GI tract, transport, and storage. (Emanuele, et al., 2014). If excess iron …

Hla-Dqa1 And Plcg2 Are Candidate Risk Loci For Childhood-Onset Steroid-Sensitive Nephrotic Syndrome., Rasheed A. Gbadegesin, Adebowale Adeyemo, Nicholas J A Webb, Larry A A. Greenbaum, Asiri Abeyagunawardena, Shenal Thalgahagoda, Arundhati Kale, Debbie Gipson, Tarak Srivastava, Jen-Jar Lin, Deepa Chand, Tracy E. Hunley, Patrick D. Brophy, Arvind Bagga, Aditi Sinha, Michelle N. Rheault, Joanna Ghali, Kathy Nicholls, Elizabeth Abraham, Halima S. Janjua, Abiodun Omoloja, Gina-Marie Barletta, Yi Cai, David D. Milford, Catherine O'Brien, Atif Awan, Vladimir Belostotsky, William E. Smoyer, Alison Homstad, Gentzon Hall, Guanghong Wu, Shashi Nagaraj, Delbert Wigfall, John Foreman, Michelle P. Winn, Mid-West Pediatric Nephrology Consortium

Manuscripts, Articles, Book Chapters and Other Papers

Steroid-sensitive nephrotic syndrome (SSNS) accounts for >80% of cases of nephrotic syndrome in childhood. However, the etiology and pathogenesis of SSNS remain obscure. Hypothesizing that coding variation may underlie SSNS risk, we conducted an exome array association study of SSNS. We enrolled a discovery set of 363 persons (214 South Asian children with SSNS and 149 controls) and genotyped them using the Illumina HumanExome Beadchip. Four common single nucleotide polymorphisms (SNPs) in HLA-DQA1 and HLA-DQB1 (rs1129740, rs9273349, rs1071630, and rs1140343) were significantly associated with SSNS at or near the Bonferroni-adjusted P value for the number of single variants that were …

Molecular Mechanisms Linking Amino Acid (Leucine) Deprivation To Igfbp-1 Hyperphosphorylation In Fetal Growth Restriction, Niyati M. Malkani

Electronic Thesis and Dissertation Repository

In this study, we explore the molecular mechanisms linking amino acid (leucine) deprivation to IGFBP-1 hyperphosphorylation in vitro. During pregnancy, a maladaptive fetal response to in utero amino acid deprivation leads to Fetal Growth Restriction (FGR). FGR infants display elevated phosphorylated IGFBP-1, which is associated with decreased IGF-I bioavailability. Leucine deprivation inhibits mechanistic target of rapamycin (mTOR) signaling and stimulates the amino acid response (AAR). Using HepG2 cells, a model for fetal hepatocytes, we demonstrate that in leucine deprivation, the AAR modulates total and phosphorylated IGFBP-1 while mTOR mediates total IGFBP-1 secretion only. We also reveal that protein kinases …

Oseltamivir-Warfarin Interaction In Hypoplastic Left Heart Syndrome: Case Report And Review., Jonathan B. Wagner, Susan M. Abdel-Rahman

Manuscripts, Articles, Book Chapters and Other Papers

An 8-year-old boy with hypoplastic left heart syndrome with a previous history of thrombosis within the inferior vena cava receiving stable warfarin dosing for anticoagulation was diagnosed with influenza B. He was subsequently placed on oseltamivir therapy according to the Centers for Disease Control and Prevention clinical practice guidelines. During the hospitalization, his international normalized ratio steadily increased to supratherapeutic levels and returned to baseline after discontinuation of oseltamivir therapy. This case represents a drug-drug interaction that has not been previously reported in children or adolescents. An extensive review of the pharmacokinetic and pharmacodynamic literature did not uncover a definitive …

Evaluating The Effectiveness Of Cranial Molding For Treatment Of Positional Plagiocephaly Using Finite Element Analysis, Maziyar Keshtgar

Master's Theses

Since the advent of recommendations for placing infants in the supine position during sleep to reduce the incidence of sudden infant death syndrome, clinicians have noted an increase in the frequency of cranial asymmetry due to deformation of suture sections of the infants’ skulls as a result of constant concentrated stress in one area at the back of their head. This specific form of cranial deformation is known as positional plagiocephaly and its rate of occurrence has increased from 0.3% in 8.2% within the past 30 years.

Current treatments and methodologies for preventing and correcting positional plagiocephaly such as stretching …

Hlhs Is Caused By The Up Regulation Of Hif1Α Due To Hypoxia Caused By A Polymorphism In Enos, Tyler J. Bruinsma, Kevin T. Curwick, Leah Ellman, Jared M. Grootwassink, Thomas M. O'Toole

Celebrating Scholarship & Creativity Day (2011-2017)

Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect occurring in fewer than 0.5% of live births in the United States (Fruitman, 2000). It is characterized by a critically underdeveloped left ventricle with accompanying imperfections including septal defects, under-sized aorta, and underdeveloped bicuspid and aortic semilunar valves (Mayo Clinic Staff, 2012; CDC, 2013). HLHS is detectable on ultrasound at the end of the first trimester of pregnancy allowing for early diagnosis and potential treatment in utero. While a protocol involving three surgeries exists to treat the condition, there is no cure for HLHS. Even with treatment, many …

Sickle Cell Disease Among African-American Children: Exploring Relevant Literature And Identifying Research Needs, Dawana Owens

Georgia State Undergraduate Research Conference

No abstract provided.

Why?-Abetes: Understanding Diabetes Management In Rural Kwa-Zulu Natal, South Africa, Kyra Wicklund

Independent Study Project (ISP) Collection

This project will investigate how diabetics, family members, and community members involved with diabetes relate to the disease and its continued management in a rural area of KwaZulu-Natal, South Africa. Although diabetes is an issue worldwide, it has been largely over-looked in sub-Saharan Africa. This study utilized interviews with diabetics, family members of diabetics, and clinic staff as well as personal observations to reveal the strategies, challenges, and stories of diabetes in this area. Conversations with local health experts verified that diabetes is a major issue in the area of this study. Topics of interest were support structures present; education; …

Clinical Outcomes Of Splenectomy In Children: Report Of The Splenectomy In Congenital Hemolytic Anemia Registry., Henry E. Rice, Brian R. Englum, Jennifer Rothman, Sarah Leonard, Audra Reiter, Courtney Thornburg, Mary Brindle, Nicola Wright, Matthew M. Heeney, Charles Smithers, Rebeccah L. Brown, Theodosia Kalfa, Jacob C. Langer, Michaela Cada, Keith T. Oldham, J Paul Scott, Shawn D. St Peter, Mukta Sharma, Andrew M. Davidoff, Kerri Nottage, Kathryn Bernabe, David B. Wilson, Sanjeev Dutta, Bertil Glader, Shelley E. Crary, Melvin S. Dassinger, Levette Dunbar, Saleem Islam, Manjusha Kumar, Fred Rescorla, Steve Bruch, Andrew Campbell, Mary Austin, Robert Sidonio, Martin L Blakely, Splenectomy In Congenital Hemolytic Anemia (Sicha) Consortium

Manuscripts, Articles, Book Chapters and Other Papers

The outcomes of children with congenital hemolytic anemia (CHA) undergoing total splenectomy (TS) or partial splenectomy (PS) remain unclear. In this study, we collected data from 100 children with CHA who underwent TS or PS from 2005 to 2013 at 16 sites in the Splenectomy in Congenital Hemolytic Anemia (SICHA) consortium using a patient registry. We analyzed demographics and baseline clinical status, operative details, and outcomes at 4, 24, and 52 weeks after surgery. Results were summarized as hematologic outcomes, short-term adverse events (AEs) (≤30 days after surgery), and long-term AEs (31-365 days after surgery). For children with hereditary spherocytosis, …

Changes In Speckle Tracking Echocardiography Measures Of Ventricular Function After Percutaneous Implantation Of The Edwards Sapien Transcatheter Heart Valve In The Pulmonary Position., Shahryar M. Chowdhury, Ziyad M. Hijazi, John F. Rhodes, Saibal Kar, Raj Makkar, Michael Mullen, Qi-Ling Cao, Lazar Mandinov, Jason Buckley, Nicholas P. Pietris, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Patients with free pulmonary regurgitation or mixed pulmonary stenosis and regurgitation and severely dilated right ventricles (RV) show little improvement in ventricular function after pulmonary valve replacement when assessed by traditional echocardiographic markers. We evaluated changes in right and left ventricular (LV) function using speckle tracking echocardiography in patients after SAPIEN transcatheter pulmonary valve (TPV) placement.

METHODS: Echocardiograms were evaluated at baseline, discharge, 1 and 6 months after TPV placement in 24 patients from 4 centers. Speckle tracking measures of function included peak longitudinal strain, strain rate, and early diastolic strain rate. RV fractional area change, tricuspid annular plane …

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 partial …

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 pediatric …

A Dangerous Polymer: Organic Synthesis Of Poly(Glutamine), Corbain Swain

Summer Community of Scholars Posters (RCEU and HCR Combined Programs)

No abstract provided.

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 …

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 …

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 …

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 …