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

The Impact Of Single Nucleotide Polymorphisms On Cortisol Receptor Activity In Populations With Obesity, Cassidy Michalicka

Honors Theses

Cortisol is a crucial part of the endocrine system; it has the capacity to affect nearly every organ and tissue in the human body. When functioning correctly, cortisol is known to regulate the body’s stress response, control metabolism, suppress inflammation, regulate blood pressure, regulate blood sugar, regulate our body’s circadian rhythm, and much more. When the concentration of cortisol in the blood is elevated for an excessive period, the body responds with symptoms such as hyperglycemia, hypertension, weight gain, and moon face. Commonly this is known as Cushing’s Syndrome (CS), and interestingly, we have seen a phenotypic resemblance when contrasted …

Hippocampal Connectivity In Parkinson's Disease, Landis Llewelyn

Honors Theses

Background: This thesis was conducted in order to investigate possible connections between functional connectivity of the hippocampus in individuals who have Parkinson’s disease.

Methods: The MRI images, the clinical data, and the demographic data of 93 individuals with PD and 18 individuals without PD were obtained from the Parkinson's Progression Markers Initiative. Resting-state fMRI data from a group of PD patients was compared to a control group of non-PD patients by using previously published methods with FMRIB Software Library (FSL) as well as Analysis of Functional Neuroimages (AFNI).

Results: Compared to the control (non-PD) group, results bilaterally showed lesser connectivity …

The Role Of Actin Polymerization In The Development Of The Fetal Vertebrate Heart During S-Looping, Kevan Benn

Honors Theses

Research on fetal cardiac looping is an important because cardiac looping is the first organ to undergo asymmetrical organogenesis. As well, birth defects occur due to errors in the development process, of which congenital heart defects are very common. Most heart defects begin in the looping process that preludes the shape of a mature heart. Therefore, research into heart looping can give light to how these defects develop. The looping process, which occurs between 30 and 56 hours post incubation (stage 10-16 in development), is divided into two processes. The first process, C-looping, is the process where the heart tube, …

Cystic Fibrosis: Biological And Ethical Considerations, Sarah Elizabeth Milam

Honors Theses

Cystic fibrosis (CF) is a progressive, multisystem disease whose etiology is a genetic mutation in the CF gene product, cystic fibrosis transmembrane conductance regulator (CFTR). The disorder affects all exocrine glands, with common symptoms involving the lungs and pancreas. Although the CF gene and its protein product have been identified, two aspects of the disease make CF particularly difficult to diagnose and manage: (a) variability in both degree and pattern of the mutation in different individuals and (b) lack of information regarding the precise molecular and cellular mechanisms responsible. Let us begin by examining the pathogenesis and pathophysiology of the …

Kuru, Scott Turner

Honors Theses

The paper begins with a discussion on the discovery of kuru, a degenerative disease of the central nervous system. This is followed by a look at the cultural life of the Fore tribe, the natural hosts of kuru. The clinical characteristics, laboratory data, post-mortem findings and histopathology of kuru victims are also discussed.

The extensive transmission experiments involving kuru is the next topic presented. Next, a classification of disease, the origin of kuru the infectious agent involved, the etiology, the epidemiology and a possible genetic basis for kuru is given.

The paper ends with a look into some of the …

The Great Potato Debate, James D. Hudson

Honors Theses

Anencephaly and spina bifida cystica are two of the most common severe congenital malformations consistently observed in human populations. Both represent defects in the neural tube and share a significant number of similar epidemiological associations among them, occupational class, geography, sex ratio, maternal age, year and season of the year. In anencephaly most of the brain and upper skull never form usually resulting in death within a few hours of birth. Spina bifida cystica is a malformation of the spinal cord often causing paralysis, vulnerability to infection, and early death. In 1972, Dr. J.H. Renwick presented a controversial hypothesis which …