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

The Cystic Fibrosis Transmembrane Conductance Regulator: Regulation By Hsp-90, Kevin Marrs

Theses and Dissertations (ETD)

The hypothesis of this project is that a functionally relevant association exists between CFTR and Hsp90. In testing this hypothesis, (a) the association of CFTR and Hsp90 is confirmed via crosslinking and immunoprecipitation of CFTR from stably transfected HEK-293 cells, electrophoretic separation of cross-linked proteins, and protein identification via SDS-PAGE, western blotting, and mass spectrometry. Also, this hypothesis is tested by (b) functionally assessing the effect of Hsp90 on CFTR function via Ussing chamber analysis, two-electrode voltage clamp analysis, preliminary in vivoanimal studies, and protein phosphorylation. The HEK-293 Flag-CFTR cells used in this study allows for a high degree …

The Neural Correlates Of Non-Spatial Working Memory In Velocardiofacial Syndrome (22q11.2 Deletion Syndrome), Wendy R. Kates, Beth R. Krauss, Nuria Abdulsabur, Dierdre Colgan, Kevin M. Antshel, Anne Marie Higgins, Robert J. Shprintzen

Communication Disorders Faculty Publications

Velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome, is a neurogenetic disorder that is associated with both learning disabilities and a consistent neuropsychological phenotype, including deficits in executive function, visuospatial perception, and working memory. Anatomic imaging studies have identified significant volumetric reductions in the parietal lobe of individuals with VCFS, but several studies have reported that the frontal lobe is relatively preserved. We used functional magnetic resonance imaging to investigate the neural correlates of non-spatial working memory in 17 youths with VCFS, 10 of their unaffected siblings, and 10 community controls (with the same proportion of learning disabilities as …

Survival After Bidirectional Cavopulmonary Anastomosis: Analysis Of Preoperative Risk Factors., Mark A. Scheurer, Elizabeth G Hill, Nagavardhan Vasuki, Scott Maurer, Eric M. Graham, Varsha Bandisode, Girish S. Shirali, Andrew M. Atz, Scott M. Bradley

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: Prognostic factors for survival after bidirectional cavopulmonary anastomosis for functionally single ventricle are not well defined. We analyzed preoperative hemodynamic and echocardiographic data to determine risk factors for death or transplantation at least 1 year after bidirectional cavopulmonary anastomosis.

METHODS: Data for all patients who underwent bidirectional cavopulmonary anastomosis before 5 years of age at our institution from September 1995 through June 2005 were analyzed. Available preoperative echocardiograms and catheterizations were reviewed. Survivors were compared with those who died or underwent transplantation. Bivariable associations between demographic and clinical risk factors and survival status (alive without transplantation vs dead or …

Impact Of Suture Choice On Stricture Formation Following Repair Of Esophageal Atresia, Shawn D. St Peter, Patricia A. Valusek, Charles L. Snyder, G W. Holcomb Iii, Daniel J. Ostlie

Manuscripts, Articles, Book Chapters and Other Papers

Background/ Purpose: The most common complication following repair of esophageal atresia is anastomotic stricture. Despite strong opinions of pediatric surgeons regarding the type of suture used for the anastomosis, these opinions remain unsubstantiated by any data present in the literature. Therefore, we investigated the rate and severity of stricture formation relative to the suture size and material.
Materials & Methods: A retrospective analysis of our most recent 20-year experience with repair of esophageal atresia and tracheoesophageal fistula (EA/TEF) was performed. Stricture was defined as the need for dilation. Outcomes were analyzed based on absorbability, texture, and type of …

Manic Symptoms And Behavioral Dysregulation In Youth With Velocardiofacial Syndrome (22q11.2 Deletion Syndrome)., Alka Aneja, Wanda Fremont, Kevin M. Antshel, Stephen V. Faraone, Nuria Abdulsabur, Anne Marie Higgins, Robert J. Shprintzen, Wendy R. Kates

Communication Disorders Faculty Publications

Mania and bipolar disorder have been reported in adolescents and adults with velocardiofacial syndrome (VCFS; also known as 22q11.2 deletion syndrome). Children with VCFS have a high prevalence of attention-deficit/hyperactivity disorder (ADHD), which may constitute a risk factor for the eventual development of bipolar disorder in this population. Therefore, we sought to determine whether children with VCFS exhibit more manic symptoms than community controls that also may have learning disorders and ADHD. The study population consisted of 86 children with VCFS and 36 community controls from ages 9 to 15 years, using measures of Young Mania Rating Scale-Parent Version, Schedule …