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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
41

INVESTIGATING THE DISEASE-CAUSING MUTATIONS IN DUCHENNE MUSCULAR DYSTROPHY

Hache, Lauren Patricia 29 June 2009 (has links)
Duchenne muscular dystrophy (DMD) is a progressive, degenerative muscle disease. It is caused by a large variety of mutations in the dystrophin gene. Studies of new therapies that are based on specific genotypes are generating a high level of interest among both researchers and patients. This investigation examines the mutations reported in patients with DMD by the large international academic research group, the Cooperative International Neuromuscular Research Group (CINRG). It also compares the types of mutations reported in two large mutation databases, Leiden DMD mutation database and the French Universal Mutation Database-Duchenne Muscular Dystrophy (UMD-DMD), to those reported in DMD patients from three CINRG studies. Diagnostic, strength, and medical history data were reviewed retrospectively for 374 DMD patients from 20 CINRG centers worldwide. The frequency of each type of mutation found in the CINRG data was compared with similar information abstracted from the Leiden and UMD-DMD mutation databases. On an exploratory basis, the distribution of DMD-causing lesions in the CINRG data was also compared to data from the patient registry, DuchenneConnect. The distribution of dystrophin mutations within the CINRG database is similar to the two large published databases and the patient registry data collection. The immediate results improve understanding of the many mutations in the dystrophin gene. These results suggest the need for more rigorous and harmonized genetic screening as well as the continued collection of global data in easily accessed, searchable databases. The results of this work have a public health importance because DMD is the most common form of muscular dystrophy. Furthermore, the creation and improvements to existing disease databases can advance the standard of care for all patients and families with muscular dystrophy over diverse geographies and cultures. Harmonization of mutation data collection for DMD studies will benefit clinical trials and ultimately enhance pairing of eligible patients to specific molecular-based treatments.
42

HOW DOES KNOWLEDGE OF THE TUSKEGEE SYPHILIS STUDY AND BELIEFS IN HIV CONSPIRACY THEORIES AFFECT AFRICAN AMERICANS PERCEPTION OF MEDICAL RESEARCH?

Lauricella, Christopher 29 June 2009 (has links)
OBJECTIVES: The Tuskegee Syphilis Study and HIV conspiracy beliefs have continuing effects on perceptions of medical research in the African American community. This study was designed to explore how knowledge and beliefs concerning the Tuskegee Study and HIV impact African Americans willingness to partake in medical research, how research incentives may influence that willingness and what level of importance they believe medical research has in their lives. METHODS: Responses to medical research questionnaires were assessed for 100 participants. Outcome measures included accuracy of Tuskegee study knowledge, likelihood of participation in research based on incentives, level of importance of research and enrollment into a recruitment database. Data concerning knowledge and beliefs of the Tuskegee Study and HIV, likelihood of participation and level of importance were analyzed via two-way correlation tables and chi-square analysis. RESULTS: Analysis revealed a relatively high level of inaccuracy of Tuskegee study knowledge and HIV. Influences of these topics in relation to willingness to participate in research and overall perceptions of medical research were minimal. However, there were associations indicating that individuals with moderate or greater knowledge of the Tuskegee Study were less likely to participate in research if free medical care was offered when compared to individuals who knew little or nothing regarding the study. CONCLUSIONS: In order to improve the likelihood of minority participation, the medical research community should tailor their recruitment efforts to take into account common beliefs in the African American community concerning medical research. PUBLIC HEALTH SIGNIFICANCE: The data have implications related to the ability to garner trust between the African American and medical research communities, with the ultimate goal to improve likelihood of minority participation in medical research. With a significant degree of misconceptions concerning both the Tuskegee Study and HIV being prevalent in the community, it is vital to take into account these beliefs in order to more effectively recruit African Americans. Outwardly dismissing these beliefs could result in further distrust between the scientific and African American community.
43

AN EXPLORATION OF BODY IMAGE PERCEPTION IN AN AFRICAN AMERICAN POPULATION

Amburgey, Kimberly 29 June 2009 (has links)
PURPOSE: This study examined body image perception among participants of the Healthy Black Family Project (HBFP) through the Center for Minority Health. As part of this examination, body image perception of the participants social networks, differences between ethnicities, and the association of disease risk with body image perception were studied. METHODS: The participants perceptions of body image were assessed using responses in words as well as pictures. Body image satisfaction was assessed by comparing current and ideal bodies selected from a pictorial scale. Chi-square analysis and Fishers Exact tests were performed to assess the accuracy of the participants perceptions of body image in comparison to measured BMI. Body image perceptions of the social networks were compared with the participants perceived and measured BMI using ANOVA and linear regression analysis. Comparisons between ethnicities were also assessed using Fishers Exact test and 95% confidence intervals. Risk perception between weight categories was assessed using ANOVA and Fishers Exact tests. RESULTS: This analysis revealed body image perceptions underestimated measured BMIs. Consistent with other published studies, females wished to lose weight, while males wished to remain the same or gain weight. Obese participants were more accurate in assessing their weight category using the pictorial scale, while normal weight participants were more accurate in words. The majority of social networks were perceived as obese and participants of both genders associated with female family members of similar size. HBFP participants perceived larger bodies as obese than a previously studied Caucasian population and female participants chose larger bodies as ideal. Disease risks were not consistently associated with body image perceptions. CONCLUSIONS: In this population, significant differences in body image perception exist. Accuracy of body image differs between weight categories and body image satisfaction differs between genders. In contrast to Caucasian populations, different perceptions of obesity exist and larger female bodies are perceived as ideal. PUBLIC HEALTH SIGNIFICANCE: Programs involving disease prevention and weight management should involve components of body image perception education. In order for these education programs to be more effective, they should include factors that encompass differences in ethnicity, gender, and weight class.
44

Familial correlation in dental caries and periodontal disease: indicators and risk factors

Moeller, Jennifer Rose 29 June 2009 (has links)
RESEARCH AIMS: Many studies have identified an association between cardiovascular disease and periodontal disease. Awareness is growing that oral health is important in an individuals general health. There is evidence suggesting that oral conditions, such as dental caries and periodontal disease, are due to bacteria contained in plaque and treatable, possibly preventable conditions. The aims of this study are 1) determine if there is a familial correlation in the ability to host supragingival and subgingival bacteria, 2) determine familiality in the development of dental caries and periodontal disease, and 3) if there is a familial correlation, propose modifications to the oral health hygiene standard of care that may influence the development of oral disease, which in turn may lower the risk of developing cardiovascular disease. METHODS: Data were obtained from the COHRA study (IRB #020773 and #0506048). Participants (n = 2,570) contacted the study coordinator and attended a clinic at which DNA samples were obtained, dental examinations were performed, and questionnaires were completed. FCOR, a S.A.G.E. statistical program, was used to analyze the data and determine the familial correlation between relative pair-types. RESULTS: The influences of environment and genetic make-up in regards to oral health, specifically the ability to host bacteria and the development of dental caries and periodontal disease, are complex. The correlations of all pair-types were similar and likely overlap when the standard error is considered. CONCLUSION: Results suggested that there was no strong evidence of a genetic influence on the ability to host supragingival or subgingival bacteria or the development of dental caries or periodontal disease. However, the amount of influence environment and genetic factors have in the development of oral disease remains unclear. PUBLIC HEALTH SIGNIFICANCE: The relationship between cardiovascular disease and periodontal disease is not understood. A continuated attempt to understand the components of oral disease status and its influence on cardiovascular disease may provide an avenue by which to decrease an individuals risk to develop cardiovascular disease.
45

Sequence Variation in the APOA1 and APOA4 Genes and their Relationship with Plasma HDL-Cholesterol Levels

Hill, Sarah Elizabeth 29 June 2009 (has links)
Heart disease continues to be the leading cause of death in the United States, making it one of the foremost public health concerns. Many factors influence the risk to develop heart disease, including abnormal blood lipid levels. High levels of plasma high-density lipoprotein (HDL)-cholesterol have been shown to have a protective effect. Recent genome-wide association studies (GWAS) and candidate gene studies have identified genes thought to contribute to HDL-cholesterol levels. Two genes, APOA1 and APOA4, have been associated with HDL-cholesterol levels in multiple studies with inconsistent results. The majority of these studies focused on the common variant-common disease hypothesis whereas only one study by Cohen et al. (2004) evaluated APOA1 using the rare variant-common disease hypothesis. The aim of this study was to further investigate the role of common and rare variation in these two genes by sequencing individuals having extremely low and high HDL-cholesterol levels in two populations, U.S. Non-Hispanic Whites (NHWs), and African Blacks, and then screening the identified variants in the entire sample. In the initial sequence analysis, 54 variants were identified in APOA1 (25 of which were new), and 43 in APOA4 (21 of which were new). According to preliminary analysis of the sequencing data for APOA1 and APOA4, no striking difference was noticed between the distribution of rare variants between high and low HDL groups in either population. To date, screening data was compiled for the entire NHWs and Black samples for a total of seven common variants: 2 for APOA1 (rs5070 and rs5072), and 5 in APOA4 (rs5092, rs5100, rs5104, rs5106, and rs5109). All 7 variants were present in the Black population; five were present in NHWs (rs5070, rs5072, rs5092, rs5100, and rs5104). Modest or marginal significant p-values were observed; however, none would maintain significance after multiple testing correction in either population. Additional variants identified in sequencing remain to be screened in the entire NHWs and Black samples.
46

Identifying the Informational and Emotional Needs of Individuals with Brugada Syndrome and Their Families to Guide the Development of an Educational Resource

Chevalier, Amber 28 June 2010 (has links)
PURPOSE: Brugada syndrome is an autosomal dominant arrhythmia condition caused by genetic mutations affecting the cardiac conduction system. It is characterized by an abnormal electrocardiogram pattern and a predisposition to syncope and sudden cardiac death. Penetrance is incomplete and expressivity varies greatly within families. This condition is endemic in Southeast Asia, but was described in North America and Europe in 1992. Due to its novelty and complexity there is a scarcity of informational resources. The first aim of this project was to gain insight from individuals and families with Brugada syndrome and to use this information to accomplish the second aim: an educational resource well-suited for families coping with Brugada syndrome. The public health relevance of this project reflects its application to genetic counseling: the development of patient educational resources involves a careful assembly of content and design with attention to patient needs. METHODS: Ten participants completed a questionnaire which addressed general understanding of the condition, personal experiences, terms and concepts related to Brugada syndrome, and individual perspectives. The responses to the questionnaire were used to help shape an educational resource. RESULTS: Analysis of the questionnaire responses revealed that some main concepts are well-understood by this study population, while there is considerable lack of understanding of other important concepts associated with Brugada syndrome. Overall participants expressed needs for more information and tools for coping with the condition. CONCLUSION: A two part educational resource was created to address these needs. A short introductory pamphlet was produced for use as an initial introduction to the condition and an in-depth resource called Brugada syndrome: A Guide for Families was created. The resources include patient-friendly explanations of symptoms, diagnosis, treatment, children, inheritance, genetic testing, and support resources.
47

Phenotypic and Genetic Analysis of Indices of Liability to Addiction

Infante, Elena Marie 28 June 2010 (has links)
The inability to measure individual risk for SUD, particularly at a young age, hinders etiologic research and prevention. Previous research has developed an index of transmissible liability (TLI)that covers the entire range of liability phenotypes, does not rely on SUD symptoms, is derived from items drawn from psychological and psychopathological instruments, and can be applied in a young or otherwise asymptomatic population. TLI has high heritability and has been validated as a measure of transmissible risk for SUD in previous studies. This index, however, requires information obtained not only from the individuals but also from their parents and teachers. Developing SUD liability indices that do not involve those additional informants could augment the feasibility and efficiency of measurement. One of the goals of this study was to construct new indices based on a reduced number of questionnaire items used to derive the original TLI and determine their utility in measuring risk for SUD. Another purpose of this study was to investigate composition of phenotypic variance of the newly developed liability indices. Participants were self-selected twin pairs attending the 2006, 2007, and 2009 Twins Day Festivals in Twinsburg, OH, and participants in the CEDAR database from the University of Pittsburgh. Results of this research indicate that the ability of the newly developed liability indices to predict SUD is similar to that of the original TLI. Biometrical genetic analysis showed that the phenotypic variance of the new SUD liability indices is comprised of approximately equal additive genetic and unique environmental components. This study has public health relevance as it developed new measurement techniques to identify individuals at high risk of developing SUD, which will be beneficial for prevention and intervention.
48

Sequence variation in the CD36 gene and its relationship with plasma HDL cholesterol levels

Hughes, Sarah Caitlin 29 June 2010 (has links)
Heart disease (HD) is a primary public health concern, with HD being one of the leading causes of death every year in the United States. Many risk factors influence HD, including lipid levels, and studies have shown that higher levels of plasma high density lipoprotein (HDL) cholesterol have a protective effect against HD. Recent genome-wide linkage scans have associated a locus on chromosome 7, harboring CD36, as being involved in components of the metabolic syndrome, including HDL-C levels. Therefore, identifying variation in this gene affecting HDL-C levels is of great public health importance. The "common variant-common disease" hypothesis has been tested by a limited number of studies through common SNP genotyping with inconsistent results. To date, no studies to our knowledge have evaluated CD36 using the "rare variant-common disease" hypothesis. The aim of this study was to further evaluate the role of common and rare variation in CD36 by sequencing individuals having extremely low and high HDL-cholesterol levels in two populations, U.S. Non-Hispanic Whites (NHWs), and African Blacks. In our initial sequence analysis, 343 variants were identified in CD36, 168 of which were previously unreported in the SeattleSNPs database. According to preliminary analysis of the sequencing data, our findings support the associations of three SNPs with HDL-C levels reported in the literature. No striking difference was noticed between the distribution of rare variants between high and low HDL-C groups. We identified four common variants (MAF ≥ 5%) in our sequencing data from our small sample that displayed statistically significant differences in MAF between the low and high HDL-C groups but have not been confirmed yet by genotyping in the entire NHW and Black populations while thirteen common variants had p-values between 5-10%, which may be statistically significant due to the small sample size. To date, screening data was compiled for the entire NHWs and Black samples for a total of nineteen common variants. None of these variants displayed a significant p-value in our entire NHW and Black samples. Additional variants identified in sequencing remain to be screened in the entire NHW and Black samples.
49

A Candidate Gene Study of Late-Onset Alzheimer's Disease

Burns, Lauren Christina 28 June 2010 (has links)
Late-onset Alzheimers disease (LOAD) is a multifactorial disease with the potential involvement of multiple genes. Complex diseases such as LOAD have a large affect on public health due to the significant financial burden of health care for these individuals. Genetics plays a significant role in the etiology of the disease, therefore it is of public health importance that the genetics of LOAD be investigated. There is a known association between APOE gene variants and LOAD. No additional genes have been consistently demonstrated to be associated with risk of LOAD. Multiple recent genome-wide association studies (GWAS) have found variants showing significant association with LOAD. Twelve SNPs were chosen from four GWAS for a replication study to determine if the associations seen between SNPs and AD risk in the respective studies were present in our population. Ten additional positional candidate SNPs were chosen on chromosome 10 because of observed linkage peaks for AD and predicted imprinted genes in this region. We genotyped these 22 SNPs as well the E2/E3/E4 APOE polymorphism in up to 993 Caucasian Americans with LOAD and up to 976 age-matched healthy Caucasian Americans. Our data showed no statistically significant associations between the 22 SNPs examined and the risk of AD. Stratification by APOE*4 carrier status also failed to reveal statistically significant associations. Additional analyses were performed to examine the potential associations between the 22 SNPs and age-at-onset, disease duration, and baseline MMSE score. The analysis revealed significant associations between two SNPs, rs3746319 (p=0.002) and rs16934131 (p=0.045), and age-at-onset. One SNP, rs16934131 (p=0.0002), was found to be significantly associated with disease duration. Three SNPs, rs16934131 (p=0.002), rs12781609 (p=0.012), and rs5984894 (p=0.009), were found to be associated with baseline MMSE score in controls. Of note, rs16934131, demonstrated statistically significant association with age at onset, disease duration, and MMSE score. Further study may be necessary to definitively rule out associations between these variants and LOAD.
50

Sickle Cell Trait Testing in the Athlete: Experience at the University of Pittsburgh

Aloe, Amy Elizabeth 28 June 2010 (has links)
There is a general lack of awareness regarding sickle cell trait in the field of athletics. While sickle cell trait is usually considered a benign condition, there have been reports of serious complications during extreme conditions (i.e. high altitude or hot temperatures) among competitive athletes. In June 2009, the National Collegiate Athletic Association (NCAA) recommended that all of its student athletes determine their sickle cell trait status, if unknown. Testing athletes for sickle cell trait has possible undesirable implications, such as stigmatization and discrimination against athletes with sickle cell trait. This project aimed to prevent these negative implications by developing a novel program to provide sickle cell education, testing, and pre/post-test counseling for students in collegiate athletic programs. The Pediatric Sickle Cell Program at Childrens Hospital of Pittsburgh (CHP) collaborated with the University of Pittsburgh in July of 2009 to facilitate voluntary testing of student athletes for sickle cell trait. Our program provided pre-test counseling, testing within the University of Pittsburghs athletic training facilities for each student athlete, and post-test counseling, regardless of trait status. We met with athletic department staff to provide sickle cell trait education, methods to prevent exercise-related sudden death, and emphasized the importance against stigmatizing student athletes with sickle cell trait. Testing and education were received well by both coaches and athletes. In total, we tested 79 student athletes; two of which were found to have sickle cell trait. Our program in the future plans to work with the University of Pittsburgh Athletic Department again and expand testing protocols to other universities in the area. In addition, future studies will assess the student athletes experience during testing and reasons why some athletes chose not to be tested. The public health significance of this project is two-fold: to create a testing protocol and educational plan that can be individualized for the needs of a university, while maintaining the autonomy and privacy of the student athletes, and ensuring beneficence and non-malfeasance. In addition, the project raised awareness of sickle cell trait in the field of athletics, which will prevent sudden death among otherwise healthy, young athletes.

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