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

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

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

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

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

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

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, …

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 per admission and …

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 …

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

Department of Medicine

No abstract provided.

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

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 …

Galactose-1-Phosphate Uridyl Transferase (Galt) And Galactosemia A Review Of Galt Function And Current Theories On Galactosemia Pathogenesis, Lydia R. Rehrer

Senior Honors Theses

All living organisms depend on the metabolism of carbohydrates for energy and the biosynthesis of necessary glycoconjugates. One of these carbohydrates is the monosaccharide galactose. Galactose is metabolized by humans through the Leloir pathway of galactose metabolism, which contains three enzymes to modify galactose so that it can be incorporated into glycolysis for the production of cellular energy. The middle enzyme of this pathway, galactose-1-phosphate uridyltransferase, produces uridine diphosphogalactose (UDP-gal) from galactose-1-phosphate (gal-1P), and a deficiency of this enzyme results in the human disease galactosemia. Galactosemia is diagnosed soon after an infant begins feeding, and although a galactose-restricted diet eliminates …

Variation In Feeding Practices Following The Norwood Procedure., Linda M. Lambert, Nancy A. Pike, Barbara Medoff-Cooper, Victor Zak, Victoria L. Pemberton, Lisa Young-Borkowski, Martha L. Clabby, Kathryn N. Nelson, Richard G. Ohye, Bethany Trainor, Karen Uzark, Nancy Rudd, Louise Bannister, Rosalind Korsin, David S. Cooper, Christian Pizarro, Sinai C. Zyblewski, Bronwyn H. Bartle, Richard V. Williams, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: To assess variation in feeding practice at hospital discharge after the Norwood procedure, factors associated with tube feeding, and associations among site, feeding mode, and growth before stage II.

STUDY DESIGN: From May 2005 to July 2008, 555 subjects from 15 centers were enrolled in the Pediatric Heart Network Single Ventricle Reconstruction Trial; 432 survivors with feeding data at hospital discharge after the Norwood procedure were analyzed.

RESULTS: Demographic and clinical variables were compared among 4 feeding modes: oral only (n = 140), oral/tube (n = 195), nasogastric tube (N-tube) only (n = 40), and gastrostomy tube (G-tube) only …

Doença Renal Policística Autossômica Dominante Em Pacientes Em Hemodiálise No Sul Do Brasil; Autosomal Dominant Polycystic Kidney Disease In Hemodialysis Patients In Southern Brazil, Everton Fernando Alves

Everton Fernando Alves

Introdução: A doença renal policística autossômica dominante é a enfermidade renal hereditária mais comum em seres humanos. Objetivo: Analisar a prevalência, características clínicas e laboratoriais de pacientes com rins policísticos e relacionar as manifestações da doença por gênero. Métodos: Trata-se de um estudo observacional e retrospectivo. Foram revisados todos os prontuários médicos de pacientes com rins policísticos admitidos para hemodiálise entre 1995 e 2012, em quatro centros que atendem a área de abrangência da 15ª regional de saúde do Paraná, Brasil. Resultados: Fizeram parte do estudo 48 pacientes com rins policísticos, causa primária da doença renal crônica (DRC) estágio 5. …

Hutchinson-Gilford Progeria Syndrome: Pathophysiology And Possible Treatments, Pearl Hersh

The Science Journal of the Lander College of Arts and Sciences

Named after the two scientists who independently described the condition, Hutchinson-Gilford Progeria Syndrome (HGPS) occurs due to a mutation in the LMNA gene that codes for Lamin A, a filament protein that acts to form the nuclear lamina in the cell nucleus. This mutation is a single C-to-T substitution at nucleotide 1824 of the LMNA gene. As a result of this mutation, an abnormal protein named 'progerin' is synthesized instead of Lamin A, causing the nuclear membrane to be malformed. Since protein farnesylation is needed to target progerin to the nuclear rim, farnesyltransferase inhibitor has been proposed as a form …

A Comparison Of Parenting Dimensions Between Mothers Of Children With Down Syndrome And Mothers Of Typically Developing Children, B. Allyson Phillips

Books and Monographs

The purpose of the current study was to compare the parenting styles and dimensions in mothers of children with Down syndrome and mothers of typically developing children. Effective parenting is vital for a child’s intellectual, physical, social, and emotional development, and not all parenting techniques are equal in their effectiveness in raising a healthy, well-adjusted child. We expected that parents of children with Down syndrome would display more negative parenting techniques than parents of typically developing children because of their decreased parental well-being and increased caregiving demands.

The sample was comprised of 35 mothers of children with Down syndrome and …

Effects Of Whole Body Therapeutic Hypothermia On Gastrointestinal Morbidity And Feeding Tolerance In Infants With Hypoxic Ischemic Encephalopathy., Kimberly M. Thornton, Hongying Dai, Seth Septer, Joshua E. Petrikin

Manuscripts, Articles, Book Chapters and Other Papers

Objective. This retrospective cohort study evaluated the effects of whole body therapeutic hypothermia (WBTH) on gastrointestinal (GI) morbidity and feeding tolerance in infants with moderate-to-severe hypoxic ischemic encephalopathy (HIE). Study Design. Infants ≥ 35 weeks gestational age and ≥1800 grams birth weight with moderate-to-severe HIE treated from 2000 to 2012 were compared. 68 patients had documented strictly defined criteria for WBTH: 32 historical control patients did not receive WBTH (non-WBTH) and 36 cohort patients received WBTH. Result. More of the non-WBTH group infants never initiated enteral feeds (28% versus 6%; P = 0.02), never reached full enteral feeds (38% versus …

Fluid Flow Shear Stress Over Podocytes Is Increased In The Solitary Kidney., Tarak Srivastava, Gianni E. Celsi, Mukut Sharma, Hongying Dai, Ellen T. Mccarthy, Melanie Ruiz, Patricia A. Cudmore, Uri S. Alon, Ram Sharma, Virginia A. Savin

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Glomerular hyperfiltration is emerging as the key risk factor for progression of chronic kidney disease (CKD). Podocytes are exposed to fluid flow shear stress (FFSS) caused by the flow of ultrafiltrate within Bowman's space. The mechanism of hyperfiltration-induced podocyte injury is not clear. We postulated that glomerular hyperfiltration in solitary kidney increases FFSS over podocytes.

METHODS: Infant Sprague-Dawley rats at 5 days of age and C57BL/6J 14-week-old adult mice underwent unilateral nephrectomy. Micropuncture and morphological studies were then performed on 20- and 60-day-old rats. FFSS over podocytes in uninephrectomized rats and mice was calculated using the recently published equation …

Supporting Families With Congenital Adrenal Hyperplasia: Encouraging Whole Family Health, Kathryn A. Kraft

Antioch University Full-Text Dissertations & Theses

In this dissertation, I discuss the medical and psychological needs of families with children with Congenital Adrenal Hyperplasia (CAH). Due to these needs, I have designed and described a program of social support and psychoeducation to be offered to parents and families. Specifically, I discuss the difficulty that parents have when finding out that their child has CAH, the emotional toll this takes on a parent, on their relationship, and on their family. Using a Family Systems Illness Model, I designed a program that takes into account family functioning, organization, structure, and communication when determining what would be most helpful …