Medicine and Health Sciences Commons^™

Genome-Wide Systems Genetics Of Alcohol Consumption And Dependence, Kristin Mignogna

Theses and Dissertations

Widely effective treatment for alcohol use disorder is not yet available, because the exact biological mechanisms that underlie this disorder are not completely understood. One way to gain a better understanding of these mechanisms is to examine the genetic frameworks that contribute to the risk for developing this disorder. This dissertation examines genetic association data in combination with gene expression networks in the brain to identify functional groups of genes associated with alcohol consumption and dependence.

The first study took advantage of the behavioral complexity of human samples, and experimental capabilities provided by mouse models, by co-analyzing gene expression networks …

2nd Tier Assay For The Detection Of Congenital Adrenal Hyperplasia By Virginia’S Newborn Screening Laboratory: Steroid Profile By Hplc-Ms/Ms, Christopher E. Nixon

Theses and Dissertations

Congenital Adrenal Hyperplasia (CAH) encompasses several disorders related to disruptions in the adrenal steroid production pathway. These disruptions may cause virilization of the external female sex organs, incorrect gender assignment, precocious puberty, and in the most severe form, may cause life-threatening salt wasting and adrenal crisis if not detected and treated early in the newborn period.

17α-Hydroxyprogesterone (17-OHP) is the primary target for immunofluorescence detection of CAH from dried blood spots in newborn screening (NBS). Unfortunately, current immunoassay techniques for the detection of CAH suffer from high false positive rates. The primary factors contributing to false positive determinations can include …

Data Patterns Discovery Using Unsupervised Learning, Rachel A. Lewis

Electronic Theses and Dissertations

Self-care activities classification poses significant challenges in identifying children’s unique functional abilities and needs within the exceptional children healthcare system. The accuracy of diagnosing a child's self-care problem, such as toileting or dressing, is highly influenced by an occupational therapists’ experience and time constraints. Thus, there is a need for objective means to detect and predict in advance the self-care problems of children with physical and motor disabilities. We use clustering to discover interesting information from self-care problems, perform automatic classification of binary data, and discover outliers. The advantages are twofold: the advancement of knowledge on identifying self-care problems in …