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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons

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Galactose-1-Phosphate Uridyl Transferase (Galt) And Galactosemia A Review Of Galt Function And Current Theories On Galactosemia Pathogenesis, Lydia R. Rehrer 2014 Liberty University

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 2014 Children's Mercy Hospital

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 (n = 57 ...


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 2014 Universidade Estadual de Maringá

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 ...


A Comparison Of Parenting Dimensions Between Mothers Of Children With Down Syndrome And Mothers Of Typically Developing Children, B. Allyson Phillips 2014 Ouachita Baptist University

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 ...


Hutchinson-Gilford Progeria Syndrome: Pathophysiology And Possible Treatments, Pearl Hersh 2014 Touro College

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 ...


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 2014 Children's Mercy Hospital

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 ...


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 2014 Children's Mercy Hospital

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 6 ...


Supporting Families With Congenital Adrenal Hyperplasia: Encouraging Whole Family Health, Kathryn A. Kraft 2014 Antioch University - New England

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

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 ...


Immortalized Myogenic Cells From Congenital Muscular Dystrophy Type1a Patients Recapitulate Aberrant Caspase Activation In Pathogenesis: A New Tool For Mdc1a Research, Soonsang Yoon, Guido Stadler, Mary Lou Beermann, Eric V. Schmidt, James A. Windelborn, Peter Schneiderat, Woodring E. Wright, Jeffrey Boone Miller 2013 Boston University School of Medicine

Immortalized Myogenic Cells From Congenital Muscular Dystrophy Type1a Patients Recapitulate Aberrant Caspase Activation In Pathogenesis: A New Tool For Mdc1a Research, Soonsang Yoon, Guido Stadler, Mary Lou Beermann, Eric V. Schmidt, James A. Windelborn, Peter Schneiderat, Woodring E. Wright, Jeffrey Boone Miller

University of Massachusetts Medical School Faculty Publications

BACKGROUND: Congenital muscular dystrophy Type 1A (MDC1A) is a severe, recessive disease of childhood onset that is caused by mutations in the LAMA2 gene encoding laminin-alpha2. Studies with both mouse models and primary cultures of human MDC1A myogenic cells suggest that aberrant activation of cell death is a significant contributor to pathogenesis in laminin-alpha2-deficiency.

METHODS: To overcome the limited population doublings of primary cultures, we generated immortalized, clonal lines of human MDC1A myogenic cells via overexpression of both CDK4 and the telomerase catalytic component (human telomerase reverse transcriptase (hTERT)).

RESULTS: The immortalized MDC1A myogenic cells proliferated indefinitely when cultured at ...


Multicenter Study Comparing Shunt Type In The Norwood Procedure For Single-Ventricle Lesions: Three-Dimensional Echocardiographic Analysis., Gerald R. Marx, Girish S. Shirali, Jami C. Levine, Lin T. Guey, James F. Cnota, Jeanne M. Baffa, William L. Border, Steve Colan, Gregory Ensing, Mark K. Friedberg, David J. Goldberg, Salim F. Idriss, J Blaine John, Wyman W. Lai, Minmin Lu, Shaji C. Menon, Richard G. Ohye, David Saudek, Pierre C. Wong, Gail D. Pearson, Pediatric Heart Network Investigators 2013 Children's Mercy Hospital

Multicenter Study Comparing Shunt Type In The Norwood Procedure For Single-Ventricle Lesions: Three-Dimensional Echocardiographic Analysis., Gerald R. Marx, Girish S. Shirali, Jami C. Levine, Lin T. Guey, James F. Cnota, Jeanne M. Baffa, William L. Border, Steve Colan, Gregory Ensing, Mark K. Friedberg, David J. Goldberg, Salim F. Idriss, J Blaine John, Wyman W. Lai, Minmin Lu, Shaji C. Menon, Richard G. Ohye, David Saudek, Pierre C. Wong, Gail D. Pearson, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The Pediatric Heart Network's Single Ventricle Reconstruction (SVR) trial randomized infants with single right ventricles (RVs) undergoing a Norwood procedure to a modified Blalock-Taussig or RV-to-pulmonary artery shunt. This report compares RV parameters in the 2 groups using 3-dimensional echocardiography.

METHODS AND RESULTS: Three-dimensional echocardiography studies were obtained at 10 of 15 SVR centers. Of the 549 subjects, 314 underwent 3-dimensional echocardiography studies at 1 to 4 time points (pre-Norwood, post-Norwood, pre-stage II, and 14 months) for a total of 757 3-dimensional echocardiography studies. Of these, 565 (75%) were acceptable for analysis. RV volume, mass, mass:volume ratio ...


Factors Impacting Echocardiographic Imaging After The Fontan Procedure: A Report From The Pediatric Heart Network Fontan Cross-Sectional Study., Richard V. Williams, Renee Margossian, Minmin Lu, Andrew M. Atz, Timothy J. Bradley, Michael Jay Campbell, Steven D. Colan, Dianne Gallagher, Wyman W. Lai, Gail D. Pearson, Ashwin Prakash, Girish S. Shirali, Meryl S. Cohen, Pediatric Heart Network Investigators 2013 Children's Mercy Hospital

Factors Impacting Echocardiographic Imaging After The Fontan Procedure: A Report From The Pediatric Heart Network Fontan Cross-Sectional Study., Richard V. Williams, Renee Margossian, Minmin Lu, Andrew M. Atz, Timothy J. Bradley, Michael Jay Campbell, Steven D. Colan, Dianne Gallagher, Wyman W. Lai, Gail D. Pearson, Ashwin Prakash, Girish S. Shirali, Meryl S. Cohen, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

Echocardiographic image quality in Fontan survivors may be limited by a variety of factors. We sought to describe echocardiographic quality and factors associated with study quality in subjects participating in the Pediatric Heart Network Fontan Cross-Sectional Study. Echocardiograms were obtained at 7 clinical sites using a standard protocol. Quality grading and analysis were performed by a core laboratory. Univariate and multivariable modeling were performed to assess factors associated with quality and ability to obtain images sufficient for prespecified quantitative analysis. A total of 543 echocardiograms were obtained. The quality of echocardiograms improved over the duration of the study. The great ...


Facioscapulohumeral Muscular Dystrophy: Are Telomeres The End Of The Story, Guido Stadler, Oliver D. King, Jerome D. Robin, Jerry W. Shay, Woodring E. Wright 2013 University of Texas Southwestern Medical Center

Facioscapulohumeral Muscular Dystrophy: Are Telomeres The End Of The Story, Guido Stadler, Oliver D. King, Jerome D. Robin, Jerry W. Shay, Woodring E. Wright

Neurology Publications

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy with a relatively late age of onset (usually in the late teens) compared with Duchenne and many other muscular dystrophies. The current FSHD disease model postulates that contraction of the D4Z4 array at chromosome 4q35 leads to a more open chromatin conformation in that region and allows transcription of the DUX4 gene. DUX4 mRNA is stable only when transcribed from certain haplotypes that contain a polyadenylation signal. DUX4 protein is hypothesized to cause FSHD by mediating cytotoxicity and impairing skeletal muscle differentiation. We recently showed in a cell culture model that DUX4 ...


Evaluating The Utility Of Clinical Criteria For The Identification Of Lynch Syndrome Among Endometrial Cancer Patients, Amanda S. Bruegl 2013 The University of Texas Graduate School of Biomedical Sciences at Houston

Evaluating The Utility Of Clinical Criteria For The Identification Of Lynch Syndrome Among Endometrial Cancer Patients, Amanda S. Bruegl

The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Dissertations and Theses (Open Access)

Background: Lynch Syndrome (LS) is a familial cancer syndrome with a high prevalence of colorectal and endometrial carcinomas among affected family members. Clinical criteria, developed from information obtained from familial colorectal cancer registries, have been generated to identify individuals at elevated risk for having LS. In 2007, the Society of Gynecologic Oncology (SGO) codified criteria to assist in identifying women presenting with gynecologic cancers at elevated risk for having LS. These criteria have not been validated in a population-based setting.

Materials and Methods: We retrospectively identified 412, unselected endometrial cancer cases. Clinical and pathologic information were obtained from the electronic ...


Early Echocardiographic Changes After Percutaneous Implantation Of The Edwards Sapien Transcatheter Heart Valve In The Pulmonary Position., Shahryar M. Chowdhury, Ziyad M. Hijazi, John Rhodes, Saibal Kar, Raj Makkar, Michael Mullen, Qi-Ling Cao, Lydia King, Jodi Akin, Girish S. Shirali 2013 Children's Mercy Hospital

Early Echocardiographic Changes After Percutaneous Implantation Of The Edwards Sapien Transcatheter Heart Valve In The Pulmonary Position., Shahryar M. Chowdhury, Ziyad M. Hijazi, John Rhodes, Saibal Kar, Raj Makkar, Michael Mullen, Qi-Ling Cao, Lydia King, Jodi Akin, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: To evaluate echocardiographic changes after SAPIEN valve implantation in the pulmonary position.

BACKGROUND: The feasibility of the SAPIEN transcatheter pulmonary valve (TPV) has recently been demonstrated. We evaluated changes in pulmonary valve function and the right ventricle after SAPIEN TPV placement.

METHODS: We evaluated echocardiograms at baseline, discharge, 1 and 6 months after TPV placement in 33 patients from 4 centers. Pulmonary insufficiency severity was graded 0-4. TPV peak and mean gradients were measured. Right ventricular (RV) size and function were quantified using routine measures derived from color, spectral, and tissue Doppler indices and two-dimensional echocardiography.

RESULTS: At baseline ...


Blinded By The Light: Retinal Phototoxicity In The Context Of Safety Studies, Maria Cristina De Vera Mudry, Sven Kronenberg, Shun-ichiro Komatsu, Gustavo D. Aguirre 2013 University of Pennsylvania

Blinded By The Light: Retinal Phototoxicity In The Context Of Safety Studies, Maria Cristina De Vera Mudry, Sven Kronenberg, Shun-Ichiro Komatsu, Gustavo D. Aguirre

Departmental Papers (Vet)

No abstract provided.


A Case Of Worsening Stridor In A Neonate, Richard J. Mazzaccaro MD 2013 Lehigh Valley Health Network

A Case Of Worsening Stridor In A Neonate, Richard J. Mazzaccaro Md

Department of Pediatrics

No abstract provided.


Gene-Based Therapy For Alpha-1 Antitrypsin Deficiency, Christian Mueller, Terence Flotte 2013 University of Massachusetts Medical School

Gene-Based Therapy For Alpha-1 Antitrypsin Deficiency, Christian Mueller, Terence Flotte

Christian Mueller

Alpha-1 antitrypsin Deficiency (AATD) has been an attractive target for the development of gene therapy because it is a common single gene disorder, for which there would appear to be significant benefit to be gained for lung disease patients by augmentation of plasma levels of wild-type (M) alpha-1 antitrypsin (AAT). While a significant proportion of patients also have liver disease, which is unlikely to be benefitted by augmentation, the potential to treat or prevent lung disease by replacement of plasma levels to at least 11 microMolar (571 mcg/ml) is the basis upon which several protein replacement therapies have been ...


The Longitudinal Course Of Attention Deficit/Hyperactivity Disorder In Velo-Cardio-Facial Syndrome, Kevin M. Antshel, Kaitlin Hendricks, Robert J. Shprintzen, Wanda Fremont, Anne Marie Higgins, Stephen V. Faraone, Wendy R. Kates 2013 Sacred Heart University

The Longitudinal Course Of Attention Deficit/Hyperactivity Disorder In Velo-Cardio-Facial Syndrome, Kevin M. Antshel, Kaitlin Hendricks, Robert J. Shprintzen, Wanda Fremont, Anne Marie Higgins, Stephen V. Faraone, Wendy R. Kates

Communication Disorders Faculty Publications

OBJECTIVE: To evaluate predictors of persistence of attention deficit/hyperactivity disorder (ADHD) in a large sample of children with velo-cardio-facial syndrome (VCFS) with and without ADHD followed prospectively into adolescence. STUDY DESIGN: Children with VCFS with (n = 37) and without (n = 35) ADHD who were on average 11 years old at the baseline assessment and 15 years old at the follow-up assessment were comprehensively assessed with structured diagnostic interviews and assessments of behavioral, cognitive, social, school, and family functioning. Control participants both with and without ADHD were also followed prospectively. RESULTS: In adolescence, 65% of children with VCFS continued to ...


Epigenetic Variability Is A Modifier Of Facioscapulohumeral Muscular Dystrophy, Takako I. Jones, Chia-Yun Sun, Celine Debarnot, Charis Himeda, Charles P. Emerson, Jr., Peter L. Jones 2013 University of Massachusetts Medical School

Epigenetic Variability Is A Modifier Of Facioscapulohumeral Muscular Dystrophy, Takako I. Jones, Chia-Yun Sun, Celine Debarnot, Charis Himeda, Charles P. Emerson, Jr., Peter L. Jones

UMass Center for Clinical and Translational Science Research Retreat

Facioscapulohumeral muscular dystrophy (FSHD), the most prevalent myopathy afflicting both children and adults, is strongly associated with epigenetic changes of the 4q35-localized macrosatellite D4Z4 repeat. Recent studies propose that FSHD pathology is caused by the misexpression and missplicing of the DUX4 (double homeobox 4) gene, encoded within the repeat array, resulting in production of a pathogenic protein, DUX4-FL. We have analyzed DUX4 mRNA and protein expression in a large collection of myogenic cells and muscle biopsies derived from muscles of FSHD1 affected subjects and their unaffected first-degree relatives. We confirmed that stable DUX4-fl mRNA and protein were expressed in myogenic ...


Stimulation Through Tlr4 Increases Fviii Inhibitor Formation In A Mouse Model Of Hemophilia A, Claire K. Holley 2013 The University of Texas Graduate School of Biomedical Sciences at Houston

Stimulation Through Tlr4 Increases Fviii Inhibitor Formation In A Mouse Model Of Hemophilia A, Claire K. Holley

The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Dissertations and Theses (Open Access)

Hemophilia A is a clotting disorder caused by functional factor VIII (FVIII) deficiency. About 25% of patients treated with therapeutic recombinant FVIII develop antibodies (inhibitors) that render subsequent FVIII treatments ineffective. The immune mechanisms of inhibitor formation are not entirely understood, but circumstantial evidence indicates a role for increased inflammatory response, possibly via stimulation of Toll-like receptors (TLRs), at the time of FVIII immunization. I hypothesized that stimulation through TLR4 in conjunction with FVIII treatments would increase the formation of FVIII inhibitors. To test this hypothesis, FVIII K.O. mice were injected with recombinant human FVIII with or without concomitant ...


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