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Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Examining The Role Of Specific Virulence Mechanisms During Pseudomonas Aeruginosa Infection In A Zebrafish Model Of Cystic Fibrosis, Ryan T. Phennicie
Examining The Role Of Specific Virulence Mechanisms During Pseudomonas Aeruginosa Infection In A Zebrafish Model Of Cystic Fibrosis, Ryan T. Phennicie
Electronic Theses and Dissertations
Cystic fibrosis (CF) is the most common lethal hereditary disease. CF is caused by recessive mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene and is associated with multi--organ defects resulting from improper ion transport across epithelial membranes. Chronic lung infection by the environmentally ubiquitous opportunistic human pathogen Pseudomonas aeruginosa and the subsequent hyperinflammation that occurs as the host immune system combats the bacterium cause substantial morbidity and mortality in CF. Despite numerous studies that have sought to elucidate the role of CFTR in the innate immune response, the links between CFTR, innate immunity, and P. aeruginosa infection remain …
Evaluation Of Recurrence Risks For Left-Sided Cardiac Lesions, Sarah Swain
Evaluation Of Recurrence Risks For Left-Sided Cardiac Lesions, Sarah Swain
Dissertations & Theses (Open Access)
It is widely accepted that hypoplastic left heart syndrome (HLHS), aortic valve stenosis with or without bicuspid aortic valve (AS/BAV) and coarctation of the aorta (CoA) occur in families more commonly with each other than with any other congenital heart defect (CHD). Genetic counseling for CHDs is currently based on empiric risk estimates derived from data collected on all types of CHDs between 1968 and 1990. Additionally, for the specific group of defects described above, termed left-sided lesions, estimates are available for sibling recurrence. Utilizing family history data from 757 probands recruited between 1997 and 2007 from The Children’s Hospital …
Natural History Study Of Arthrogryposis Multiplex Congenita, Amyoplasia Type, Trisha Nichols
Natural History Study Of Arthrogryposis Multiplex Congenita, Amyoplasia Type, Trisha Nichols
Dissertations & Theses (Open Access)
Arthrogryposis or Arthrogrypsosis Multiplex Congenita (AMC) are terms used to describe the clinical finding of multiple congenital contractures. There are more than 300 distinct disorders associated with arthrogryposis. Amyoplasia is the most common type of arthrogryposis and is often referred to as the “classic” type. There is no known cause of amyoplasia and no risk factors have been identified. Moreover, there is no established diagnostic criteria, which has led to inconsistency and confusion in the medical literature. The purpose of this study was to describe the natural history of amyoplasia, to determine if there are any identifiable risk factors and …