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

Initial Experience With A Miniaturized Multiplane Transesophageal Probe In Small Infants Undergoing Cardiac Operations., Sinai C. Zyblewski, Girish S. Shirali, Geoffrey A. Forbus, Tain-Yen Hsia, Scott M. Bradley, Andrew M. Atz, Meryl S. Cohen, Eric M. Graham

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: There has been reluctance to use intraoperative transesophageal echocardiography (TEE) in small infants. We assessed the utility and safety of a new miniaturized multiplane micro-TEE probe in small infants undergoing cardiac operations.

DESCRIPTION: Hemodynamic and ventilation variables were prospectively recorded before and after micro-TEE insertion and removal in infants weighing 5 kg or less undergoing cardiac operations.

EVALUATION: The study included 42 patients with a mean weight of 3.6 +/- 0.9 kg (range, 1.7 to 5 kg). All probe insertions were successful. There were no complications or clinically significant changes in hemodynamic or ventilation variables. Information provided by TEE …

An Assessment Of Obesity And Hyperphagia In Individuals With Smith-Magenis Syndrome, Carrie A. Crain

Dissertations and Theses (Open Access)

Smith-Magenis syndrome (SMS;OMIM# 182290) is a multiple congenital anomalies and mental retardation syndrome caused by a 3.7- Mb deletion on chromosome 17p11.2 or a mutation in the RAI1 gene. Although the majority of the SMS phenotype has been well described, limited studies are available describing growth patterns in SMS. There is some evidence that individuals with SMS develop obesity. Thus, this study aims to characterize the growth and potential influence of hyperphagia in a cohort of individuals with SMS. A retrospective chart review was conducted of 78 individuals with SMS through Baylor College of Medicine (BCM) at Texas Children¡¯s Hospital …

Partial And Transitional Atrioventricular Septal Defect Outcomes., L Luann Minich, Andrew M. Atz, Steven D. Colan, Lynn A. Sleeper, Seema Mital, James Jaggers, Renee Margossian, Ashwin Prakash, Jennifer S. Li, Meryl S. Cohen, Ronald V. Lacro, Gloria L. Klein, John A. Hawkins, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Surgical and perioperative improvements permit earlier repair of partial and transitional atrioventricular septal defects (AVSD). We sought to describe contemporary outcomes in a multicenter cohort.

METHODS: We studied 87 patients undergoing primary biventricular repair of partial or transitional AVSD between June 2004 and February 2006 across seven North American centers. One-month and 6-month postoperative data included weight-for-age z-scores, left atrioventricular valve regurgitation (LAVVR) grade, residual shunts, and left ventricular ejection fraction. Paired methods were used to assess 6-month change.

RESULTS: Median age at surgery was 1.8 years; median weight z-score was -0.88. Median days for ventilation were 1, intensive …

Age- And Sex-Associated Changes In Mrna Expression Of Neurodegenerative Disorder-Related Molecules In The Hippocampus And Cerebellum Of Rat Brain, Srinivasarao Thulluri

Theses, Dissertations and Capstones

Age-associated oxidative stress is involved in neurodegenerative disorders such as Alzheimer’s and Parkinson’s diseases, and sex-associated differences may also affect the risk for these neurodegenerative diseases. We compared the effects of aging and sex on the mRNA expression of five molecules that are closely related to oxidative stress, along with Alzheimer’s and Parkinson’s diseases in the hippocampus of both male and female Fischer 344xBrown Norway (F344BN) rats. The reverse transcription polymerase chain reaction was used to determine the mRNA expression level of superoxide dismutase 2 (SOD2), heme oxygenase 1 (HO1), amyloid precursor protein (APP), -site APP-cleaving enzyme 1 (BACE1), and …

Spirituality And Organised Religion In Supporting Parents Of Children With Down Syndrome And Intellectual Disability, Divia Pillay

Theses : Honours

Background: Raising a child with an intellectual disability can present parents with many challenges. Factors that have been demonstrated to positively impact on the mental and physical health of parents of children with an intellectual disability include greater clinical, family and social supports. One avenue of support that has been rarely explored is the role of spirituality and organised religion in supporting parents of children with an intellectual disability. Aim: The aim of this literature review was to investigate the role of spirituality and organised religion in the lives of parents of children with intellectual disability, specifically Down syndrome. Methods: …

Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets With Alopecia Resulting From A Novel Missense Mutation In The Dna-Binding Domain Of The Vitamin D Receptor., Peter J. Malloy, Jining Wang, Tarak Srivastava, David Feldman

Manuscripts, Articles, Book Chapters and Other Papers

The rare genetic recessive disease, hereditary vitamin D resistant rickets (HVDRR), is caused by mutations in the vitamin D receptor (VDR) that result in resistance to the active hormone 1,25-dihydroxyvitamin D(3) (1,25(OH)(2)D(3) or calcitriol). In this study, we examined the VDR from a young boy with clinical features of HVDRR including severe rickets, hypocalcemia, hypophosphatemia and partial alopecia. The pattern of alopecia was very unusual with areas of total baldness, adjacent to normal hair and regions of scant hair. The child failed to improve on oral calcium and vitamin D therapy but his abnormal chemistries and his bone X-rays normalized …

Disclosure Of At-Risk Status For Huntington's Disease: Is There A "Right Time?", Krysten Ann Shipley

Honors Program Theses

The disclosure of at-risk status for HD can be a complicated and stress inducing process. The most difficult people to disclose this information to are most often those who are also at-risk, notably the children of individuals who are themselves at-risk for developing the disease or know that they will develop the disease. How and when a child finds out that he or she is at risk for a debilitating disease can have a tremendous impact on the development of the child. The purpose of this thesis is to assess the ideal course of action in dealing with how and …

Clinico-Morphological Correlations In The Categorization Of Holes Between The Ventricles., Brad A. Friedman, Anthony Hlavacek, Karen Chessa, Girish S. Shirali, Eowyn Corcrain, Diane Spicer, Robert H. Anderson, Sinai Zyblewski

Manuscripts, Articles, Book Chapters and Other Papers

Controversy still exists in the categorization of holes between the ventricles, although they are the most common congenital cardiac malformation. Advanced imaging techniques such as three-dimensional echocardiography and computed tomographic angiography offer superb anatomical details of these defects. In this review, we have sought to collate the features highlighted in different categorizations and identify their similarities, but also emphasize their differences. We hope that an analysis of this type, now achievable during life, using advanced imaging, might lead to the appearance of a unified system for diagnosis and description of holes between the ventricles.

Fas Behavioral Survey Of Traits: Screening For Effects Of Prenatal Exposure To Alcohol, Glena Andrews, C. Joe Robins

Faculty Publications - Doctor of Psychology (PsyD) Program

The FAS BeST was developed by parents and educators of children with Fetal Alcohol Syndrome rating behaviors characteristic of FASD including; easily influenced by others, difficulty learning from experience, appearing and declaring innocence even when confronted with evidence to the contrary, and experiencing difficulties in other domains. The FAS BeST differentiates between children with PEA, dysgenesis of the corpus callosum (DCC), and attention deficit hyperactivity disorder (ADHD; Porter & Andrews, 2004). The sample included 294 participants. Using the cutoff score suggested by Porter and Andrews (2004) the accuracy rates were 78% for FAS/E, 100% for controls, 85% for DCC, and …