PURPOSE: The multidimensional health locus of control (MHLC) measures the degree to which an individual feels they are in control of their own health. In order to better tailor interventions to the psychosocial needs of Healthy Black Family Project (HBFP) participants, we explored relationships between MHLC, risk perception, and participation in health behaviors. METHODS: Risk perception analysis was assessed in 87 participants using Fishers exact tests to search for relationships between MHLC scores and risk perception accuracy for diabetes, cardiovascular disease, and cancer (breast, ovarian and colon). Health behavior was assessed in 68 participants. Outcome measures included physical activity level, information seeking behavior and enrollment in the Minority Research Recruitment Database. Change in physical activity was assessed using the Transtheoretical model. Wilsons model was used to assess changes in information seeking behavior. Fishers exact tests were used to test for relationships among MHLC and the outcome measures. RESULTS: Individuals at high risk for diabetes were more likely to underestimate their risk if they scored low on powerful others (p= 0.011). Individuals at moderate risk for cardiovascular disease were more likely to overestimate their risk if they scored high on powerful others (p=0.005). Women at low risk for ovarian cancer were more likely to overestimate their risk if they were externals (p= 0.04). Overall, the majority of individuals maintained or increased their level of physical activity, and information seeking and enrolled in the database regardless of their health locus of control. CONCLUSIONS: These findings highlight diabetes, cardiovascular disease, and ovarian cancer as areas in which participants would benefit from risk education tailored to their locus of control. Maximizing the role of community members, improving patient doctor communication, and the family health history initiative may be appropriate approaches to improve risk awareness. The pattern of behavior change observed in this study may be preliminary evidence that the HBFP is effective at promoting positive health behavior change in individuals regardless of their health locus of control. PUBLIC HEALTH SIGNIFICANCE: Community health outreach programs can use MHLC to explore how to better tailor interventions to their target population. The HBFP may serve as a model for future health promotion efforts.

Women who are found to carry BRCA1 or BRCA2 mutations are given recommendations of management options ranging from surveillance, to chemoprevention, and surgery. Choices regarding management may be influenced by experiences with cancer in a family. Besides management options, young women with a BRCA mutation may be concerned about reproductive choices. This study investigates the reproductive concerns in young women with BRCA mutations and how their choices regarding management are influenced by their family history. A secondary analysis employing a thematic analysis method was performed using interview transcripts. In the initial study open-ended email and telephone interviews were guided by grounded theory methodology. The current study was comprised of 14 women, aged 18-30 who tested positive for a BRCA1 or BRCA2 mutation. Two main themes were identified: 1. Management choices are highly influenced by the cancer histories of family members, 2. Young women who have a BRCA mutation experience a sense of urgency about their reproductive choices. Perceived closeness to family members with cancer appeared to impact decisions for medical management. The results of this study suggest which the participants who elected for prophylactic surgeries had an eminent sense of cancer risks that was largely based on the family history of cancer. A sense of feeling rushed into starting a family and concerns of passing on the BRCA mutation to their children were the reproductive concerns in young women with a BRCA mutation. From these results, health professionals may gain insight into the management choices and concerns of young BRCA mutation carriers. This work also has relevance to public health by being applicable to common diseases and how management choices can be influenced by experiences within a family.

Sickle cell disease (SCD) is associated with significant morbidity, mortality and impaired quality of life. Vaso-occlusive pain crises are the hallmark of sickle cell disease and require frequent visits to the emergency room and admissions to the hospital. Even though national guidelines are available that address the ethical issues of pain management, patients with SCD often receive suboptimal pain control, especially during acute painful episodes. This project planned to determine some methods of improving patient care and satisfaction of pain management in hopes of being able to translate these methods to other health care systems. At the Childrens Hospital of Pittsburgh (CHP) individualized pain plans, which include lists of each patients most recent pain medications, have been in place since 2002. Retrospective data was analyzed to determine whether admission rates have decreased since this time due to improved care and treatment of patients with SCD. Additionally, patient and parent satisfaction with current pain management was evaluated by the use of surveys, with questions regarding overall perceptions of treatment and care. We had also proposed to implement a quality improvement program in the ED to further improve care of patients with sickle cell disease presenting with vaso-occlusive pain crises and then reassess patient and parent satisfaction. However, time restraints did not allow a quality improvement program to be implemented at this time. This study found that admission rates since 2002 had decreased at CHP, since the time that individualized pain plans were designed and put into practice. Baseline measurements of patient and parent satisfaction found that, overall, participants were satisfied with the care and treatment of pain they received in the ED. Future studies should involve developing further methods of improving patient satisfaction with pain management; a possible avenue to pursue may be working on decreasing wait times in the ED. The public health significance of this research is that increasing satisfaction by improved care, treatment, and pain management may lead to improved quality of life for patients with SCD; additionally, similar steps to be taken in other hospitals to increase the level of pain management that sickle cell patients receive.

Sickle cell disease (SCD) is a severe autosomal recessive blood disorder that affects around 1 in 500 African Americans in the United States. Approximately, 1 in 12 African Americans are carriers of sickle cell trait (SCT). The high prevalence of sickle cell trait carriers highlights the importance of having education and trait testing available for individuals, particularly those, who are of childbearing age. Misconceptions and misinformation about sickle cell disease and sickle cell trait can be the reason for an individual to not be motivated to get sickle cell trait testing. This study was created to provide education to the African American community. A pre-post survey research design was used to evaluate 1) knowledge acquisition and retention among study participants who received genetic counseling in the barbershop and beauty salon; and 2) the feasibility of delivering a health education module on sickle cell disease in barbershops and salons in the African American community. As a result of this project, knowledge of sickle cell disease, concern over trait testing, and attitudes toward receiving genetic counseling in a non-clinical setting were evaluated. The data collected suggested that there was significant knowledge gain in 7 of the 9 knowledge questions administered with a p-value <0.05. Concern about trait testing remained low for both the pre and post questionnaires. Attitude about trait testing and genetic counseling remained high for both the pre and post questionnaires as well, resulting in an overall supportive attitude about trait testing and genetic counseling. The mean amount of knowledge gain overall knowledge questions were evaluated using a paired t-test with significance (p<0.05). Overall knowledge gain had a significance of (p<0.001). The public health relevance from the results of this study can inform development of health education materials on genetic disorders common in the African American community. Medical and public health professionals can use the insights gained from this study to provide better education and outreach to the community through non-clinical settings in the community.

PURPOSE: Cleft lip with or without cleft palate (CLP) is a common birth defect, with phenotypes ranging from overt clefts to minimal microforms. Occult defects of the superior orbicularis oris (OO) muscle appear to be a part of this phenotypic spectrum. Analysis of the OO phenotype as a clinical tool is hypothesized to improve recurrence risk estimates in families. METHODS: Upper lip ultrasound images were collected as a component of the Oral-Facial Cleft (OFC) study. Breaks in the continuity of the OO muscle visualized on ultrasound were scored as OO defects. Occurrences of CLP were compared between families with &ge; 1 family member with an OO defect and families without OO defects. Recurrence risks of CLP and of OO muscle defects among siblings and first degree relatives (FDRs) of probands with CLP were calculated using empiric proportions. Similar methods were used to calculate the recurrence risks of CLP and of OO defects among siblings and FDRs of probands with isolated OO defects. RESULTS: The occurrences of CLP in families with and without a history of OO defects are 0.1863 and 0.1165, respectively (p < 0.01, OR = 1.735). The sibling recurrence risk of CLP in this cohort is 9.1%; the FDR risk is 15.7%, which are both significantly different from published CLP recurrence risk data. The likelihoods of one or more siblings or FDRs of a proband with CLP to have an OO defect are 14.7% and 11.4%, respectively. The sibling recurrence of isolated OO muscle defects in this cohort is 17.2%; the FDR recurrence is 16.4%. The chances for one or more siblings or FDRs of a proband with an OO defect to have a CLP are 3.3% and 7.3%, respectively, which are similar to the published recurrence risk estimates of nonsyndromic (NS) CLP. CONCLUSIONS: This study supports OO muscle defects as being part of the CLP spectrum and suggests an improvement in the accuracy of recurrence risk estimates of CLP. Carefully defining the CLP phenotype has considerable public health relevance, as it is a critical component to the enhancement of genetic studies investigating the etiology of CLP.

Secondary lymphedema is the accumulation of protein-rich fluid in the interstitial spaces of the extremities. It typically occurs as a result of a trauma or infection in the lymphatic system. This is a significant public health issue because lymphedema has emerged as one of the most debilitating consequences of breast cancer treatment and currently no model exists to predict who will be affected. The aim of this study was to examine genes that may increase the susceptibility to developing secondary lymphedema following breast cancer surgery and/or radiation. Perometry and bioelectrical impedance spectrometry (BIS) were also used to examine clinical and subclinical swelling in individuals. This is a case-control study that sequenced connexin genes of 70 women with secondary lymphedema and over 100 control participants without lymphedema. Connexins form gap junction channels that facilitate communication between cells. The connexins that were sequenced include connexin 47 (GJA12), connexin 37 (GJA4), connexin 40 (GJA5), and exon 2 of connexin 43 (GJA1). Four missense mutations and one synonymous substitution were identified in connexin 47. The mutations were not found to be polymorphic in control individuals. The identification of connexin 47 mutations is compelling and warrants further research to determine if and how this gene increases the risk of secondary lymphedema after breast cancer treatment. These findings could have implications for prevention, management, and early diagnosis of breast cancer-associated secondary lymphedema.

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.

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.

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.

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.