42 results on '"Bodurtha, Joann N."'
Search Results
2. The 2019 medical genetics workforce: A focus on laboratory geneticists.
- Author
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Maiese DR, Lyon M, Reddi HV, Blitzer MG, Bodurtha JN, and Muenke M
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- Female, Humans, United States, Middle Aged, Laboratories, Health Personnel, Workforce, Genetics, Medical, Physicians
- Abstract
Purpose: The aim of this report is to inform the genetics and genomics field about the results of a 2019 workforce survey of US laboratory geneticists., Methods: The American Board of Medical Genetics and Genomics distributed an electronic survey to board-certified/eligible diplomates in 2019. Analysis of the responses was performed by the American College of Medical Genetics and Genomics., Results: A total of 422 individuals identified as laboratory geneticists. The respondents represent the range of possible certifications. Nearly one-third were Clinical Cytogenetics and Genomics diplomates, another third were Molecular Genetics and Genomics diplomates, and the others were Clinical Biochemical Genetics diplomates or held a combination of certificates. The majority of laboratory geneticists are PhDs. The others were physicians or other degree combinations. Most laboratory geneticists work in academic medical centers or commercial laboratories. Most respondents identified as females and White. The median age was 53 years. A third of the respondents have been in the profession for 21+ years and plan to reduce hours or retire in the next 5 years., Conclusion: The genetics field needs to foster the next generation of laboratory geneticists to meet the increasing complexity and demand for genetic testing., Competing Interests: Conflict of Interest All authors declare no conflicts of interest., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)
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- 2023
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3. Vascular aneurysms in Ehlers-Danlos syndrome subtypes: A systematic review.
- Author
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Shabani M, Abdollahi A, Brar BK, MacCarrick GL, Ambale Venkatesh B, Lima JAC, and Bodurtha JN
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- Humans, Arteries pathology, Aneurysm, Ruptured genetics, Ehlers-Danlos Syndrome complications, Ehlers-Danlos Syndrome genetics, Ehlers-Danlos Syndrome diagnosis
- Abstract
Aneurysmal lesions are commonly seen in Ehlers-Danlos Syndrome (EDS). To better identify the regional and vessel-specific spectrum of aneurysms in different subtypes of EDS, we performed a systematic review. We searched Medline for relevant studies from 1963 to April 2022. Studies providing a report of any EDS subtype by genetic diagnosis, histologic analysis, or clinical criteria were included. A total of 448 patients from 220 studies were included. 720 vessel-specific aneurysms were reported: 386 in the abdominopelvic area, 165 in the intracranial region, 98 in the thorax, 2 in the extremities, and 6 in the venous system. In 27 out of the 65 patients with ruptured aneurysms, the ruptured aneurysm was the initial presentation. Multiple aneurysms were present in 163 out of 249 patients who had been systematically evaluated for other locations of aneurysms. The head and neck and abdominopelvic regions are two potential foci for aneurysm formation in patients with EDS. The aneurysm development in EDS is not confined to arteries; the venous system and cardiac septa may also be affected. Many patients develop multiple aneurysms, either at the time of the initial presentation or throughout their lifetime and aneurysm formation or rupture may be the first presentation of EDS., (© 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
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- 2023
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4. Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report.
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Kannan S, Bodurtha JN, Hamosh A, and Jordan C
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- Female, Fetal Growth Retardation genetics, Humans, Twins, Monozygotic genetics, Heart Defects, Congenital genetics, Single Umbilical Artery
- Abstract
Background: Duplication of the distal end of chromosome 15q has been previously implicated in a characteristic overgrowth syndrome. Additionally, many patients have other congenital malformations, including cardiac, renal, genital, and musculoskeletal anomalies. However, some patients may present with intrauterine growth restriction and short stature. Different breakpoints within 15q, as well as different environmental factors, may underlie these varied presentations., Case Presentation: We discuss monochorionic-diamniotic twins with a ~345 kb maternally inherited duplication in 15q26.3. The twins presented with discordant pathology-one twin with a single umbilical artery, selective intrauterine growth restriction, and multiple cardiac defects including aortic coarctation, aortic valve stenosis, and ventricular septal defect, whereas the other twin was unaffected. To our knowledge, this case represents the smallest reported duplication of distal 15q., Conclusion: The discordant phenotype seen in the twins is likely due to a complex interplay between genetic and environmental causes. The affected infant presented prenatally with growth restriction and a single umbilical artery rather than overgrowth, potentially due to a unique breakpoint within 15q. This, in turn, may have produced hemodynamic perturbations between the twins, leading to discordant cardiac disease. Our report thus highlights the importance of genetic and nongenetic mechanisms underlying discordant anomalies in monochorionic twins., (© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This article has been contributed to by US Government employees and their work is in the public domain in the USA.)
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- 2022
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5. Demographic and socioeconomic trends in DNA banking utilization in the USA.
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Prudent J, Lopez E, Dorshorst D, Cox HC, and Bodurtha JN
- Abstract
Demographic and clinical information from de-identified individuals utilizing a single DNA banking service over a 22-year period was assessed using descriptive statistics. The socioeconomic characteristics of the study population were estimated using a zip code-level analysis of US Census data and compared to national US Metrics for 2016. Samples from 4,874 individuals were deposited to a single commercial DNA bank from 1997 to 2019. Samples originated from 31 countries across 6 continents, with the majority of samples originating from the United States (US; 97.37%; n = 4,746). A higher proportion of individuals identifying as females (55.58%; n = 2,709) utilized the service compared to males (41.18%; n = 2,007). The age distribution was bimodal, peaking around 5 years of age and again around 65 years of age. Whole blood was the preferred specimen for submission. Sample deposits peaked in 2015 with 559 annual deposits. Clinical genetic counselors were the most common referral source (41.73%; n = 2,034). Individuals utilizing DNA banking services are estimated to reside in wealthier, more educated and less racially diverse zip codes compared to national metrics. Although direct to consumer DNA banking is being utilized by the general public and clinical genetic counselors in the US, it is not widespread., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
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- 2021
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6. The 2019 US medical genetics workforce: a focus on clinical genetics.
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Jenkins BD, Fischer CG, Polito CA, Maiese DR, Keehn AS, Lyon M, Edick MJ, Taylor MRG, Andersson HC, Bodurtha JN, Blitzer MG, Muenke M, and Watson MS
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- Female, Genetic Services, Humans, Male, United States, Workforce, Genetics, Medical, Medicine, Physicians
- Abstract
Purpose: This study characterizes the US clinical genetics workforce to inform workforce planning and public policy development., Methods: A 32-question survey was electronically distributed to American Board of Medical Genetics and Genomics board-certified/eligible diplomates in 2019. We conducted a descriptive analysis of responses from practicing clinical geneticists., Results: Of the 491 clinical geneticists responding to the survey, a majority were female (59%) and White (79%), worked in academic medical centers (73%), and many engaged in telemedicine (33%). Clinical geneticists reported an average of 13 new and 10 follow-up patient visits per week. The average work week was 50 hours and the majority (58%) worked over half-time in clinical duties. Providers indicated that 39% of new emergency patients wait 3 days or more, and 39% of nonemergency patients wait over 3 months to be seen. Respondents were geographically concentrated in metropolitan areas and many reported unfilled clinical geneticist job vacancies at their institution of more than 3 years., Conclusion: With the rapid expansion of genomic medicine in the past decade, there is still a gap between genetics services needed and workforce capacity. A concerted effort is required to increase the number of clinical geneticists and enhance interdisciplinary teamwork to meet increasing patient needs., (© 2021. The Author(s).)
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- 2021
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7. "It's a Little Different for Men"-Sponsorship and Gender in Academic Medicine: a Qualitative Study.
- Author
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Levine RB, Ayyala MS, Skarupski KA, Bodurtha JN, Fernández MG, Ishii LE, and Fivush B
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- Academic Medical Centers, Faculty, Medical, Female, Humans, Leadership, Male, Mentors, Career Mobility, Physicians, Women
- Abstract
Background: Women remain underrepresented in top leadership positions in academic medicine. In business settings, a person with power and influence actively supporting the career advancement of a junior person is referred to as a sponsor and sponsorship programs have been used to diversify leadership. Little is known about how sponsorship functions in academic medicine., Objective: To explore perceptions of sponsorship and its relationship to gender and career advancement in academic medicine., Design: Qualitative study using semi-structured, one-on-one interviews with sponsors and protégés., Participants: Twelve sponsors (clinical department chairs) and 11 protégés (participants of a school of medicine executive leadership program [N = 23]) at the Johns Hopkins School of Medicine., Key Results: All sponsors were men and all were professors, six of the 11 protégés were women, and four of the 23 participants were underrepresented minorities in medicine. We identified three themes: (1) people (how and who): women seek out and receive sponsorship differently; (2) process (faster and further): sponsorship provides an extra boost, especially for women; and (3) politics and culture (playing favorites and paying it forward): sponsorship and fairness. Informants acknowledge that sponsorship provides an extra boost for career advancement especially for women. Sponsors and protégés differ in their perceptions of how sponsorship happens. Informants describe gender differences in how sponsorship is experienced and specifically noted that women were less likely to actively seek out sponsorship and be identified as protégés compared to men. Informants describe a tension between sponsorship and core academic values such as transparency, fairness, and merit., Conclusion: Sponsorship is perceived to be critical to high-level advancement and is experienced differently by women. Increased understanding of how sponsorship works in academic medicine may empower individual faculty to utilize this professional relationship for career advancement and provide institutions with a strategy to diversify top leadership positions.
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- 2021
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8. Mentorship Is Not Enough: Exploring Sponsorship and Its Role in Career Advancement in Academic Medicine.
- Author
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Ayyala MS, Skarupski K, Bodurtha JN, González-Fernández M, Ishii LE, Fivush B, and Levine RB
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- Adult, Female, Humans, Male, Maryland, Middle Aged, Young Adult, Academic Medical Centers, Career Choice, Career Mobility, Faculty, Medical psychology, Mentoring methods, Mentors psychology, Professional Role
- Abstract
Purpose: To explore how sponsorship functions as a professional relationship in academic medicine., Method: The authors conducted semistructured interviews with Johns Hopkins University School of Medicine faculty in 2016: department chairs (sponsors) and faculty participants of an executive leadership development program (protégés). Using editing analysis style, the authors coded interview transcripts for thematic content; a coding framework and themes were derived using an iterative process., Results: Five themes were identified from 23 faculty interviews (12 sponsors, 11 protégés): (1) Mentorship is different: Sponsorship is episodic and focused on specific opportunities; (2) Effective sponsors are career-established and well-connected talent scouts; (3) Effective protégés rise to the task and remain loyal; (4) Trust, respect, and weighing risks are key to successful sponsorship relationships; (5) Sponsorship is critical to career advancement. Sponsorship is distinct from mentorship, though mentors can be sponsors if highly placed and well connected. Effective sponsors have access to networks and provide unequivocal support when promoting protégés. Effective protégés demonstrate potential and make the most of career-advancing opportunities. Successful sponsorship relationships are based on trust, respect, mutual benefits, and understanding potential risks. Sponsorship is critical to advance to high-level leadership roles. Women are perceived as being less likely to seek sponsorship but as needing the extra support sponsorship provides to be successful., Conclusions: Sponsorship, in addition to mentorship, is critical for successful career advancement. Understanding sponsorship as a distinct professional relationship may help faculty and academic leaders make more informed decisions about using sponsorship as a deliberate career-advancement strategy.
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- 2019
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9. The Role of Palliative Medicine in Assessing Hereditary Cancer Risk.
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Abusamaan MS, Quillin JM, Owodunni O, Emidio O, Kang IG, Yu B, Ma B, Bailey L, Razzak R, Smith TJ, and Bodurtha JN
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- Academic Medical Centers, Aged, Attitude, Female, Genetic Predisposition to Disease psychology, Humans, Male, Middle Aged, Neoplasms psychology, Palliative Care psychology, Prospective Studies, Socioeconomic Factors, Electronic Health Records standards, Genetic Predisposition to Disease genetics, Neoplasms genetics, Palliative Care organization & administration
- Abstract
Background:: Hereditary cancer assessment and communication about family history risks can be critical for surviving relatives. Palliative care (PC) is often the last set of providers before death., Methods:: We replicated a prior study of the prevalence of hereditary cancer risk among patients with cancer receiving PC consultations, assessed the history in the electronic medical record (EMR), and explored patients' attitudes toward discussions about family history. This study was conducted at an academic urban hospital between June 2016 and March 2017., Results:: The average age of the 75 adult patients with cancer was 60 years, 49 (55%) male and 49 (65%) white. A total of 19 (25%) patients had no clear documentation of family history in the EMR, sometimes because no family history was included in the admission template or an automatically imported template lacked content. In all, 24 (32%) patients had high-risk pedigrees that merited referral to genetic services. And, 48 (64%) patients thought that PC was an appropriate venue to discuss the implications of family history. The mean comfort level in addressing these questions was high., Conclusions:: At an academic center, 25% of patients had no family history documented in the EMR. And, 32% of pedigrees warranted referral to genetic services, which was rarely documented. There is substantial room for quality improvement for oncologists and PC specialists-often the last set of providers-to address family cancer risk before death and to increase use and ease of documenting family history in the EMR. Addressing cancer family history could enhance prevention, especially among high-risk families.
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- 2018
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10. High-Risk Palliative Care Patients' Knowledge and Attitudes about Hereditary Cancer Testing and DNA Banking.
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Quillin JM, Emidio O, Ma B, Bailey L, Smith TJ, Kang IG, Yu BJ, Owodunni OP, Abusamaan M, Razzak R, and Bodurtha JN
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- Adult, BRCA1 Protein genetics, BRCA2 Protein genetics, Female, Genetic Testing methods, Humans, Middle Aged, Genetic Predisposition to Disease, Health Knowledge, Attitudes, Practice, Neoplasms genetics, Palliative Care
- Abstract
Even at the end of life, testing cancer patients for inherited susceptibility may provide life-saving information to their relatives. Prior research suggests palliative care inpatients have suboptimal understanding of genetic importance, and testing may be underutilized in this clinical setting. These conclusions are based on limited research. This study aimed to estimate genetic testing prevalence among high-risk palliative care patients in a National Cancer Institute-designated comprehensive cancer center. We also aimed to understand these patients' understanding of, and attitudes toward, hereditary cancer testing and DNA banking. Palliative care in-patients with cancer completed structured interviews, and their medical records were reviewed. Among patients at high risk for hereditary cancer, we assessed history of genetic testing/DNA banking; and related knowledge and attitudes. Among 24 high-risk patients, 14 (58.3%) said they/their relatives had genetic testing or they had been referred for a genetics consultation. Of the remaining 10 patients, seven (70%) said they would "probably" or "definitely" get tested. Patients who had not had testing were least concerned about the impact of future testing on their family relationships; two (20%) said they were "extremely concerned" about privacy related to genetic testing. Of patients without prior testing, five (50%) said they had heard or read "a fair amount" about genetic testing. No high-risk patients had banked DNA. Overall, 23 (95.8%) said they had heard or read "almost nothing" or "relatively little" about DNA banking. Written materials and clinician discussion were most preferred ways to learn about genetic testing and DNA banking. Overall, this study demonstrates underutilization of genetics services at the end of life continues to be problematic, despite high patient interest.
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- 2018
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11. A Cost Analysis of Universal versus Targeted Cholesterol Screening in Pediatrics.
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Smith AJ, Turner EL, Kinra S, Bodurtha JN, and Chien AT
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- Cardiovascular Diseases diagnosis, Child, Cholesterol analysis, Cost-Benefit Analysis, Decision Making, Dyslipidemias diagnosis, Female, Health Care Costs, Humans, Hyperlipidemias diagnosis, Hyperlipidemias economics, Male, Mass Screening economics, Prevalence, Cardiovascular Diseases economics, Dyslipidemias economics, Pediatrics economics
- Abstract
Objective: To compare the number of children needed to screen to identify a case of childhood dyslipidemia and estimate costs under universal vs targeted screening approaches., Study Design: We constructed a decision-analytic model comparing the health system costs of universal vs targeted screening for hyperlipidemia in US children aged 10 years over a 1-year time horizon. Targeted screening was defined by family history: dyslipidemia in a parent and/or early cardiovascular disease in a first-degree relative. Prevalence of any hyperlipidemia (low-density lipoprotein [LDL] ≥130 mg/dL) and severe hyperlipidemia (LDL ≥190 mg/dL or LDL ≥160 mg/dL with family history) were obtained from published estimates. Costs were estimated from the 2016 Maryland Medicaid fee schedule. We performed sensitivity analyses to evaluate the influence of key variables on the incremental cost per case detected., Results: For universal screening, the number needed to screen to identify 1 case was 12 for any hyperlipidemia and 111 for severe hyperlipidemia. For targeted screening, the number needed to screen was 7 for any hyperlipidemia and 49 for severe hyperlipidemia. The incremental cost per case detected for universal compared with targeted screening was $1980 for any hyperlipidemia and $32 170 for severe hyperlipidemia., Conclusions: Our model suggests that universal cholesterol screening detects hyperlipidemia at a low cost per case, but may not be the most cost-efficient way to identify children with severe hyperlipidemia who are most likely to benefit from treatment., (Copyright © 2018 Elsevier Inc. All rights reserved.)
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- 2018
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12. Family Ties: The Role of Family Context in Family Health History Communication About Cancer.
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Rodríguez VM, Corona R, Bodurtha JN, and Quillin JM
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- Adult, Family Relations, Female, Genetic Predisposition to Disease, Humans, Multivariate Analysis, Self Efficacy, Communication, Family psychology, Family Health, Neoplasms genetics
- Abstract
Family health history about cancer is an important prevention and health promotion tool. Yet few studies have identified family context factors that promote such discussions. We explored relations among family context (cohesion, flexibility, and openness), self-efficacy, and cancer communication (gathering family history, sharing cancer risk information, and frequency) in a diverse group of women enrolled in a randomized control trial. Baseline survey data for 472 women were analyzed. The women's average age was 34 years, 59% identified as Black, 31% had graduated high school, and 75% reported a family history of any cancer. Results showed that greater family cohesion and flexibility were related to higher communication frequency and sharing cancer information. Women who reported greater self-efficacy were more likely to have gathered family history, shared cancer risk information, and communicated more frequently with relatives. Openness was not associated with communication but was related to greater family cohesion and flexibility. Adjusting for demographic variables, self-efficacy, and family cohesion significantly predicted communication frequency. Women with higher self-efficacy were also more likely to have gathered family health history about cancer and shared cancer risk information. Future research may benefit from considering family organization and self-efficacy when developing psychosocial theories that in turn inform cancer prevention interventions.
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- 2016
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13. Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles.
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Diehl AC, Reader L, Hamosh A, and Bodurtha JN
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- Humans, Students, Medical, Surveys and Questionnaires, Curriculum, Databases, Genetic, Education, Medical, Undergraduate, Genetics, Medical education, Schools, Medical
- Abstract
Purpose: With the relentless expansion of genetics into every field of medicine, stronger preclinical and clinical medical student education in genetics is needed. The explosion of genetic information cannot be addressed by simply adding content hours. We proposed that students be provided a tool to access accurate clinical information on genetic conditions and, through this tool, build life-long learning habits to carry them through their medical careers., Methods: Surveys conducted at the Johns Hopkins University School of Medicine revealed that medical students in all years lacked confidence when approaching genetic conditions and lacked a reliable resource for accurate genetic information. In response, the school created a horizontal thread that stretches across the first-year curriculum and is devoted to teaching students how to use Online Mendelian Inheritance in Man (OMIM) (http://omim.org) and the databases to which it links as a starting point for approaching genetic conditions., Results: The thread improved the first-year students' confidence in clinical genetics concepts and encouraged use of OMIM as a primary source for genetic information. Most students showed confidence in OMIM as a learning tool and wanted to see the thread repeated in subsequent years., Conclusion: Incorporating OMIM into the preclinical curriculum improved students' confidence in clinical genetics concepts.
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- 2015
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14. What women think: cancer causal attributions in a diverse sample of women.
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Rodríguez VM, Gyure ME, Corona R, Bodurtha JN, Bowen DJ, and Quillin JM
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- Adult, Cultural Characteristics, Female, Humans, Neoplasms genetics, Sociological Factors, United States, Health Knowledge, Attitudes, Practice, Neoplasms psychology, Women psychology
- Abstract
Women hold diverse beliefs about cancer etiology, potentially affecting their use of cancer preventive behaviors. Research has primarily focused on cancer causal attributions survivors and participants from non-diverse backgrounds hold. Less is known about attributions held by women with and without a family history of cancer from a diverse community sample. Participants reported factors they believed cause cancer. Open-ended responses were coded and relations between the top causal attributions and key factors were explored. Findings suggest certain socio-cultural factors play a role in the causal attributions women make about cancer, which can, in turn, inform cancer awareness and prevention messages.
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- 2015
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15. Practical Considerations for Implementing Research Recruitment Etiquette.
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Gyure ME, Quillin JM, Rodríguez VM, Markowitz MS, Corona R, Borzelleca J Jr, Bowen DJ, Krist AH, and Bodurtha JN
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- Humans, Ethics Committees, Research, Human Experimentation ethics, Patient Selection ethics
- Published
- 2014
16. The KinFact intervention - a randomized controlled trial to increase family communication about cancer history.
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Bodurtha JN, McClish D, Gyure M, Corona R, Krist AH, Rodríguez VM, Maibauer AM, Borzelleca J Jr, Bowen DJ, and Quillin JM
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- Adolescent, Adult, Female, Humans, Mass Screening, Middle Aged, Virginia, Young Adult, Breast Neoplasms genetics, Communication, Family, Genetic Predisposition to Disease, Health Knowledge, Attitudes, Practice
- Abstract
Background: Knowing family history is important for understanding cancer risk, yet communication within families is suboptimal. Providing strategies to enhance communication may be useful., Methods: Four hundred ninety women were recruited from urban, safety-net, hospital-based primary care women's health clinics. Participants were randomized to receive the KinFact intervention or the control handout on lowering risks for breast/colon cancer and screening recommendations. Cancer family history was reviewed with all participants. The 20-minute KinFact intervention, based in communication and behavior theory, included reviewing individualized breast/colon cancer risks and an interactive presentation about cancer and communication. Study outcomes included whether participants reported collecting family history, shared cancer risk information with relatives, and the frequency of communication with relatives. Data were collected at baseline, 1, 6, and 14 months., Results: Overall, intervention participants were significantly more likely to gather family cancer information at follow-up (odds ratio [OR]: 2.73; 95% confidence interval [CI]: 2.01, 3.71) and to share familial cancer information with relatives (OR: 1.85; 95% CI: 1.37, 2.48). Communication frequency (1=not at all; 4=a lot) was significantly increased at follow-up (1.67 vs. 1.54). Differences were not modified by age, race, education, or family history. However, effects were modified by pregnancy status and genetic literacy. Intervention effects for information gathering and frequency were observed for nonpregnant women but not for pregnant women. Additionally, intervention effects were observed for information gathering in women with high genetic literacy, but not in women with low genetic literacy., Conclusions: The KinFact intervention successfully promoted family communication about cancer risk. Educating women to enhance their communication skills surrounding family history may allow them to partner more effectively with their families and ultimately their providers in discussing risks and prevention.
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- 2014
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17. AMEN in challenging conversations: bridging the gaps between faith, hope, and medicine.
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Cooper RS, Ferguson A, Bodurtha JN, and Smith TJ
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- Humans, Communication, Professional-Patient Relations, Religion and Medicine
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All health care practitioners face patients and families in desperate situations who say, "We are hoping for a miracle." Few providers have any formal training in responding to this common, difficult, and challenging situation. We want to do our best to preserve hope, dignity, and faith while presenting the medical issues in a nonconfrontational and helpful way. We present the acronym AMEN (affirm, meet, educate, no matter what) as one useful tool to negotiate these ongoing conversations., (Copyright © 2014 by American Society of Clinical Oncology.)
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- 2014
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18. Patient-reported hereditary breast and ovarian cancer in a primary care practice.
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Quillin JM, Krist AH, Gyure M, Corona R, Rodriguez V, Borzelleca J, and Bodurtha JN
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Identifying women appropriate for cancer genetic counseling referral depends on patient-reported family history. Understanding predictors of reporting a high-risk family is critical in ensuring compliance with current referral guidelines. Our objectives were to (1) assess prevalence of candidates for BRCA1 and BRCA2 counseling referral in a primary care setting, (2) explore associations with high-risk status and various patient (e.g., race) and family structure (e.g., number of relatives) characteristics, and (3) determine whether high-risk patients had genetic counseling and/or testing. Survey and pedigree data were collected between 2010 and 2012 for 486 Women's Health Clinic patients. Analyses in 2013 investigated perceived cancer risk and worry, family structure, and receipt of genetic counseling. We explored whether these were associated with meeting USPSTF guidelines for genetic counseling referral. Twenty-two (4.5 %) women met the criteria for BRCA referral. Only one of these women had previous genetic counseling, and one reported prior genetic testing. Older women were more likely to meet BRCA referral criteria (P < 0.001). Although perceived risk was higher among high-risk women, 27 % of high-risk women felt their breast cancer risk was "low", and 32 % felt their risk was lower than average. About one in 22 women in primary care may require genetics services for hereditary breast and ovarian cancer, but alarmingly, few actually receive these services. Also, a significant proportion do not perceive that they are at increased risk. Educational interventions may be needed for both providers and patients to increase awareness of familial risk and appropriate genetic counseling services.
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- 2014
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19. Hereditary renal hypouricemia: a new role for allopurinol?
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Bhasin B, Stiburkova B, De Castro-Pretelt M, Beck N, Bodurtha JN, and Atta MG
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- Acute Kidney Injury blood, Acute Kidney Injury etiology, Adolescent, Allopurinol administration & dosage, Athletic Injuries prevention & control, Biomarkers blood, Drug Administration Schedule, Gout Suppressants administration & dosage, Humans, Male, Renal Tubular Transport, Inborn Errors blood, Secondary Prevention, Treatment Outcome, Urinary Calculi blood, Acute Kidney Injury diagnosis, Acute Kidney Injury prevention & control, Allopurinol therapeutic use, Athletic Injuries diagnosis, Gout Suppressants therapeutic use, Renal Tubular Transport, Inborn Errors drug therapy, Renal Tubular Transport, Inborn Errors genetics, Urinary Calculi drug therapy, Urinary Calculi genetics
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- 2014
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20. Youth with special health care needs: transition to adult health care services.
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Oswald DP, Gilles DL, Cannady MS, Wenzel DB, Willis JH, and Bodurtha JN
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- Adolescent, Adult, Child, Child Health Services statistics & numerical data, Female, Health Surveys, Humans, Male, Surveys and Questionnaires, United States, Young Adult, Child Health Services methods, Continuity of Patient Care statistics & numerical data, Disabled Children statistics & numerical data, Health Services Needs and Demand statistics & numerical data
- Abstract
Transition to adult services for children and youth with special health care needs (CYSHCN) has emerged as an important event in the life course of individuals with disabilities. Issues that interfere with efficient transition to adult health care include the perspectives of stakeholders, age limits on pediatric service, complexity of health conditions, a lack of experienced healthcare professionals in the adult arena, and health care financing for chronic and complex conditions. The purposes of this study were to develop a definition of successful transition and to identify determinants that were associated with a successful transition. The 2007 Survey of Adult Transition and Health dataset was used to select variables to be considered for defining success and for identifying predictors of success. The results showed that a small percentage of young adults who participated in the 2007 survey had experienced a successful transition from their pediatric care.
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- 2013
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21. The "good planning panel".
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Smith TJ and Bodurtha JN
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- Humans, Advance Care Planning organization & administration, Directive Counseling organization & administration, Patient Protection and Affordable Care Act, Terminal Care organization & administration
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- 2013
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22. The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.
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Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, and Deardorff MA
- Subjects
- Abnormalities, Multiple genetics, Algorithms, Face abnormalities, Female, Hand Deformities, Congenital genetics, Humans, Intellectual Disability genetics, Male, Micrognathism genetics, Neck abnormalities, Polymorphism, Single Nucleotide, Abnormalities, Multiple diagnosis, Hand Deformities, Congenital diagnosis, Intellectual Disability diagnosis, Micrognathism diagnosis
- Abstract
Coffin-Siris syndrome (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/nail hypoplasia. Due to the clinical variability of facial and other features, this diagnosis is often difficult to confirm clinically and the existence of this disorder as a specific diagnosis has been at times an issue of debate. In an effort to further delineate the spectrum and key phenotypic features, we reviewed 80 previously reported cases to define features in patients that most closely correlated with a convincing diagnosis. There appear to be two subtypes of CSS, one which displays the "classic" coarse facial features previously described; another displays "variant" facial features which are less striking. Using these features, we defined an algorithm to rank the confidence of diagnosis and applied it to 15 additional patients who had been previously characterized by chromosome microarray. This approach will also facilitate uniform categorization for whole-exome analysis., (Copyright © 2012 Wiley Periodicals, Inc.)
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- 2012
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23. Intraventricular twin fetuses in fetu.
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Huddle LN, Fuller C, Powell T, Hiemenga JA, Yan J, Deuell B, Lyders EM, Bodurtha JN, Papenhausen PR, Jackson-Cook CK, Pandya A, Jaworski M, Tye GW, and Ritter AM
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- Adult, Anencephaly diagnosis, Anencephaly genetics, Anencephaly pathology, Anencephaly surgery, Brain Damage, Chronic diagnosis, Brain Damage, Chronic etiology, Calcinosis genetics, Calcinosis pathology, Calcinosis surgery, Cerebral Hemorrhage diagnosis, Cerebral Hemorrhage etiology, Craniotomy, Echocardiography, Female, Fetus surgery, Follow-Up Studies, Humans, Hydrocephalus genetics, Hydrocephalus pathology, Hydrocephalus surgery, Infant, Infant, Newborn, Magnetic Resonance Angiography, Magnetic Resonance Imaging, Polymorphism, Single Nucleotide genetics, Postoperative Complications diagnosis, Postoperative Complications etiology, Pregnancy, Status Epilepticus diagnosis, Status Epilepticus etiology, Tomography, X-Ray Computed, Ultrasonography, Prenatal, Calcinosis diagnosis, Fetus abnormalities, Hydrocephalus diagnosis, Twins, Monozygotic genetics
- Abstract
The authors report a rare case of multiple intracranial fetuses in fetu, fulfilling Willis' traditional criteria, which include an axial and appendicular skeleton with surrounding organized tissue. This case was ascertained from studies of a full-term female neonate who presented with ventriculomegaly. A CT scan showed intracranial calcifications that were suggestive of an axial skeleton. Her birth weight was 3.176 kg (50th-75th percentile), length was 52 cm (90th percentile), head circumference was 35 cm (50th-75th percentile), and Apgar scores were 7 and 8 at 1 and 5 minutes, respectively. Prenatal ultrasonography studies performed at 12 weeks and 5 days, and 19 weeks and 6 days revealed normal findings. A 37-week prenatal ultrasonography study showed ventriculomegaly and obstructive hydrocephalus, with a possible intracranial teratoma. Cranial imaging at birth with ultrasonography, CT and MR imaging, and MR angiography demonstrated 2 complex intraventricular masses with cystic, solid, and bony elements. A craniotomy with resection of the masses was performed at 3 months of age. The infant survived and is now 12 months old with some developmental progress. Two axial skeletons, with accompanying rib cage and extremities, including well-formed feet and toes, were noted. Both anencephalic structures had skin with hair, fat, skeletal and smooth muscle, and bony structures with bone marrow and focal areas of calcification. Multiple viscera were present and included thymus, bowel, stomach, salivary gland, kidney, adrenal gland, lung, and presumed adnexal structures. A diagnosis of fetuses in fetu was rendered. Chromosomal studies of the child and tissue from the 2 fetuses in fetu showed normal female karyotypes. A single nucleotide polymorphism array analysis from the proband infant and tissue from the 2 identified fetuses in fetu appeared to be genetically identical. These results are consistent with a monozygotic twin embryonic origin of the fetus in fetu tissue, which is a mechanism that has been suggested in previous reports in which karyotypes, blood types, and limited genetic loci have been studied. This is the first report of a rare example of intracranial intraventricular twin fetuses in fetu for which a genome-wide single nucleotide polymorphism assay has confirmed their genetic identity.
- Published
- 2012
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24. Impact of co-occurring birth defects on the timing of newborn hearing screening and diagnosis.
- Author
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Chapman DA, Stampfel CC, Bodurtha JN, Dodson KM, Pandya A, Lynch KB, and Kirby RS
- Subjects
- Continuity of Patient Care, Hearing Tests statistics & numerical data, Humans, Infant, Infant, Newborn, Prevalence, Registries statistics & numerical data, Time Factors, United States epidemiology, Congenital Abnormalities diagnosis, Congenital Abnormalities epidemiology, Hearing Loss diagnosis, Hearing Loss epidemiology, Neonatal Screening
- Abstract
Purpose: Early detection of hearing loss in all newborns and timely intervention are critical to children's cognitive, verbal, behavioral, and social development. The initiation of appropriate early intervention services before 6 months of age can prevent or reduce negative developmental consequences. The purpose of this study was to assess, using large, population-based registries, the effect of co-occurring birth defects (CBDs) on the timing and overall rate of hearing screening and diagnosis., Method: The authors linked statewide data from newborn hearing screenings, a birth defects registry, and birth certificates to assess the timeliness of newborn hearing screening and diagnosis of hearing loss (HL) for infants with and without CBDs in 485 children with confirmed HL., Results: Nearly one third (31.5%) of children with HL had 1 or more CBDs. The presence of CBDs prolonged the time of the initial infant hearing screening, which contributed to further delays in the subsequent diagnosis of HL., Conclusions: Better coordination of HL assessment into treatment plans for children with CBDs may enable earlier diagnosis of HL and provide opportunities for intervention that will affect long-term developmental outcomes for these children.
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- 2011
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- View/download PDF
25. Comparing screening and preventive health behaviors in two study populations: daughters of mothers with breast cancer and women responding to the behavioral risk factor surveillance system survey.
- Author
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Wilson DB, Quillin J, Bodurtha JN, and McClish D
- Subjects
- Adult, Behavioral Risk Factor Surveillance System, Effect Modifier, Epidemiologic, Female, Humans, Life Style, Mammography, Middle Aged, Patient Compliance psychology, Patient Participation psychology, Risk Factors, Virginia epidemiology, Adult Children psychology, Breast Neoplasms epidemiology, Breast Neoplasms psychology, Mass Screening methods, Mass Screening psychology, Mass Screening statistics & numerical data, Patient Compliance statistics & numerical data, Patient Participation statistics & numerical data
- Abstract
Background: Studies show that daughters of mothers with breast cancer may be at increased risk for developing the disease. However, daughters' adherence to health behavior and screening recommendations, compared to the general population, is unknown., Methods: Telephone interviews explored characteristics of adult daughters (n=147), including primary and secondary preventive behaviors, body mass index (BMI, kg/m(2)), physical activity, fruit/vegetable intake, alcohol intake, smoking, and mammography. Daughters of mothers with breast cancer were recruited from the community and were compared with Virginia women (n=2528) from the 2005 Behavioral Risk Factor Surveillance System (BRFSS) survey. Differences were examined using logistic regression, adjusting for demographic covariates., Results: Daughters were younger (p<0.001), more highly educated (p<0.001), and more likely to never have been married (p<0.001) than BRFSS participants, but groups were similar by race. In adjusted analyses, daughters were significantly more likely to have ever had a mammogram (p<0.001) and to have had one recently (p=0.001). Daughters also were significantly less likely to consume>3 fruit/vegetable servings daily (p=0.032) compared to BRFSS results. There were no differences in BMI, smoking rates, alcohol consumption, or level of physical activity at work., Conclusions: Daughters with familial breast cancer risk were more likely to receive mammography screening than BRFSS participants, but they were no different in BMI, physical activity at work, exercise, or smoking than BRFSS participants and were less likely to consume more fruits and vegetables. More research is needed to explore group differences in screening practices compared to modifiable health behaviors in daughters of mothers with breast cancer.
- Published
- 2011
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26. Physicians' current practices and opportunities for DNA banking of dying patients with cancer.
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Quillin JM, Bodurtha JN, Siminoff LA, and Smith TJ
- Abstract
Purpose: The availability of genetic tests for cancer susceptibility is increasing. Current tests, however, have limited clinical sensitivity. Even when clinically valid tests are available, the genetic counseling and informed consent process might not be feasible for dying patients with cancer. DNA banking preserves the opportunity for future research or clinical testing and may provide critical opportunities for surviving relatives. This study explored the current practices and potential for DNA banking for cancer susceptibility among oncologists specializing in palliative care., Methods: Palliative care oncologists actively providing clinical care for dying patients with cancer were recruited for an online survey. Descriptive statistics for DNA banking practices, perceived qualification to recommend banking, and potential predictors were assessed., Results: Data were collected from 49 physicians (37% recruitment rate). Eighty percent reported assessing at least some patients for genetic cancer susceptibility in the past 12 months. No participants reported banking DNA for patients in the past 12 months. Only 5% reported feeling at least somewhat qualified to order DNA banking. A Web-based risk assessment tool and genetic counselor on staff were perceived as the most helpful potential resources., Conclusion: Despite its potential, DNA banking is not being used by palliative care oncologists.
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- 2011
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- View/download PDF
27. Genetic screening and DNA banking at the end of life #206.
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Quillin JM, Bodurtha JN, and Smith TJ
- Subjects
- Humans, Professional-Family Relations, Genetic Testing, Genomic Library, Terminal Care
- Published
- 2011
- Full Text
- View/download PDF
28. Genetic risk, perceived risk, and cancer worry in daughters of breast cancer patients.
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Quillin JM, Bodurtha JN, McClish D, and Wilson DB
- Subjects
- Adult, Female, Genetic Counseling, Genetic Testing, Humans, Anxiety, Breast Neoplasms genetics, Breast Neoplasms psychology, Genetic Predisposition to Disease
- Abstract
This study explored relationships between worry, perceived risk for breast cancer, consulting a genetic counselor, having genetic testing, and genetic risk for women whose mothers had breast cancer. Analyses involved data from a community-based phone survey of women whose mothers had breast cancer. Participants were categorized as having low, intermediate, or high genetic risk based on their reported family history, in accordance with an accepted classification scheme. The Lerman Breast Cancer Worry Scale measured worry, and participants reported their perceived lifetime likelihood of breast cancer, risk compared to others, and chance from 1 to 100. ANOVA, chi-square, and multiple regression analyses were conducted as appropriate. One hundred-fifty women participated. Mean age was 38 years, and 81% were Caucasian. Fifty-two women had low, 74 had intermediate, and 24 had high genetic risk for breast cancer. There were no significant differences in worry or perceived risk by hereditary risk category. Most high-risk women (91%) had not spoken with a genetic counselor, and no one had previous genetic testing. These findings suggest perceived risk, worry about breast cancer, and use of expert consultation do not match the genetic contribution to risk. There is a need for effectively stratifying and communicating risk in the community and providing tailored reassurance or referral for high-risk assessment.
- Published
- 2011
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29. Evolution of an integrated public health surveillance system.
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Chapman DA, Ford N, Tlusty S, and Bodurtha JN
- Subjects
- Birth Certificates, Death Certificates, Efficiency, Organizational, Health Surveys standards, Hearing Loss epidemiology, Hearing Loss prevention & control, Humans, Infant, Newborn, Internet, Medical Record Linkage, Neonatal Screening standards, Program Development, Virginia epidemiology, Congenital Abnormalities epidemiology, Neonatal Screening organization & administration, Population Surveillance, Registries standards
- Abstract
There is a growing recognition in maternal and child health of the importance of social, behavioral, biological, and genetic factors across the entire life course. Unfortunately, most state maternal and child health surveillance systems are not designed to readily address longitudinal research questions or track and follow children across multiple programs over time. The Virginia Department of Health (VDH) recently integrated its birth defects registry, newborn hearing screening tracking and management system, and electronic birth certificate (EBC) into a robust, Web-based surveillance system called the Virginia Vital Events and Screening Tracking System (VVESTS). Completely redesigning the existing birth defects and newborn hearing screening system (the Virginia Infant Screening and Infant Tracking System--VISITS I) with minimal disruption of ongoing reporting presented a number of challenges. Because VVESTS had different requirements such as required fields and data validations, extensive data preparation was required to ensure that existing VISITS I data would be included in the new system (VISITS II). Efforts included record deduplication, conversion of free text fields into discrete variables, dealing with missing/invalid data, and linkage with birth certificate data. VISITS II serves multiple program needs; improves data quality and security; automates linkages within families, across programs, and over time; and improves the ability of VDH to provide children with birth defects and their families necessary follow-up services and enhanced care coordination.
- Published
- 2011
30. Disparities in the Clinical Encounter: Virginia's African American Children with Special Health Care Needs.
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Oswald DP, Bodurtha JN, Willis JH, Gilles DL, Christon LM, Ogston PL, and Tlusty SM
- Abstract
This study analyzed Virginia data from the most recent National Survey of Children with Special Health Care Needs. Logistic regression models were run for six Maternal and Child Health Bureau core outcomes and included demographics, child characteristics, health care providers, and health care access variables as predictors. Race/ethnicity disparities were judged to be present if the race/ethnicity variable was a significant predictor in the final model. Examining the components of disparate outcomes, African American children were found to be less likely than their white counterparts to have a usual source for sick and preventive care and to have a personal doctor or nurse. Their parents were less likely to say that doctors spent enough time, listened carefully, were sensitive to values and customs, and made them feel like a partner. These findings emphasize the need to examine health care disparities at a state level in order to guide efforts at remediation.
- Published
- 2011
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31. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
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Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, and Biesecker LG
- Subjects
- Craniofacial Abnormalities genetics, Genotype, Humans, Mouth Abnormalities genetics, Pallister-Hall Syndrome genetics, Phenotype, Polydactyly genetics, Syndactyly genetics, Zinc Finger Protein Gli3, Abnormalities, Multiple genetics, Kruppel-Like Transcription Factors genetics, Mutation, Nerve Tissue Proteins genetics, Pallister-Hall Syndrome pathology, Polydactyly pathology, Syndactyly pathology
- Abstract
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial-digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria., (Hum Mutat 31:1142-1154, 2010. © 2010 Wiley-Liss, Inc.)
- Published
- 2010
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32. Exploring hereditary cancer among dying cancer patients--a cross-sectional study of hereditary risk and perceived awareness of DNA testing and banking.
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Quillin JM, Bodurtha JN, Siminoff LA, and Smith TJ
- Subjects
- Cross-Sectional Studies, Decision Making, Genetic Counseling, Humans, Palliative Care, Awareness, DNA genetics, Genetic Predisposition to Disease, Genetic Testing, Neoplasms genetics
- Abstract
Hereditary cancer assessment at the end of life is a relatively unexplored area, but it could be critical for surviving family members. This study explored the prevalence of hereditary cancer among dying cancer patients and assessed patients' perceived awareness of DNA testing and/or banking in a public access hospital. Palliative care patients with cancer from a single institution (or their medical-decision-making surrogates for patients unable to answer for themselves) completed structured interviews. Information was collected through medical records review and structured interviews for 43 dying cancer patients. Information for 9 patients was collected from surrogates. Nine patients (21%, 95% CI = 8.8% to 33.1%) had strong genetic risk. Currently available genetic tests could have addressed this risk for several patients. None had previous genetic counseling, testing or DNA banking. Among strong-risk patients, about half of patients/surrogates had heard/read "almost nothing" about genetic testing (44%) and DNA banking (67%). Perceived genetic awareness was not associated with genetic risk, and neither were sociodemographic characteristics. The proportion of hereditary cancer may be at least as high in the palliative care population as in other clinical settings, but awareness and uptake among patients are low. These conditions are not being recognized upstream and families are losing valuable information.
- Published
- 2010
- Full Text
- View/download PDF
33. A genetic perspective on infant mortality.
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Causey TN, Bodurtha JN, and Ford N
- Subjects
- Congenital Abnormalities genetics, Female, Humans, Infant, Infant, Newborn, Pregnancy, Premature Birth genetics, Sudden Infant Death genetics, Infant Mortality
- Abstract
Despite significant advances in perinatal and neonatal medicine, infant mortality (IM) remains a significant public health problem. The causes of IM are complex, numerous, and a result of interacting genetic and environmental factors. This paper explores genetic contributions to IM using data from Virginia. Leading causes of IM in Virginia are disorders of prematurity/low birth weight, congenital anomalies, and sudden infant death syndrome (SIDS). Recognized single gene disorders as well as genetic polymorphisms are discussed in relation to their role in IM. While preconceptional prevention from a genetic standpoint may not currently be possible, this paper provides clinicians with information on identifying women at highest risk for IM and those in need of additional surveillance and intervention. Suggestions for simple health messages to provide to women of child-bearing age to decrease the risks for birth defects and obstetrical/perinatal complications resulting in IM are also discussed.
- Published
- 2010
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34. Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.
- Author
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Chang W, Barnes AM, Cabral WA, Bodurtha JN, and Marini JC
- Subjects
- Base Sequence, Cells, Cultured, Extracellular Matrix Proteins genetics, Fibroblasts metabolism, Hydroxylation, Membrane Glycoproteins genetics, Molecular Chaperones, Molecular Sequence Data, Mutation, Osteogenesis Imperfecta genetics, Prolyl Hydroxylases, Protein Binding, Proteoglycans genetics, Collagen metabolism, Endoplasmic Reticulum metabolism, Extracellular Matrix Proteins metabolism, Membrane Glycoproteins metabolism, Osteogenesis Imperfecta metabolism, Proteoglycans metabolism
- Abstract
Null mutations in cartilage-associated protein (CRTAP) and prolyl 3-hydroxylase 1 (P3H1/LEPRE1) cause types VII and VIII OI, respectively, two novel recessive forms of osteogenesis imperfecta (OI) with severe to lethal bone dysplasia and overmodification of the type I collagen helical region. CRTAP and P3H1 form a complex with cyclophilin B (CyPB) in the endoplasmic reticulum (ER) which 3-hydroxylates the Pro986 residue of alpha1(I) and alpha1(II) collagen chains. We investigated the interaction of complex components in fibroblasts from types VII and VIII OI patients. Both CRTAP and P3H1 are absent or reduced on western blots and by immunofluorescence microscopy in cells containing null mutations in either gene. Levels of LEPRE1 or CRTAP transcripts, however, are normal in CRTAP- or LEPRE1-null cells, respectively. Stable transfection of a CRTAP or LEPRE1 expression construct into cells with null mutations for the transfected cDNA restored both CRTAP and P3H1 protein levels. Normalization of collagen helical modification in transfected CRTAP-null cells demonstrated that the restored proteins functioned effectively as a complex. These data indicate that CRTAP and P3H1 are mutually stabilized in the collagen prolyl 3-hydroxylation complex. CyPB levels were unaffected by mutations in either CRTAP or LEPRE1. Proteasomal inhibitors partially rescue P3H1 protein in CRTAP-null cells. In LEPRE1-null cells, secretion of CRTAP is increased compared with control cells and accounts for 15-20% of the decreased CRTAP detected in cells. Thus, mutual stabilization of P3H1 and CRTAP in the ER collagen modification complex is an underlying mechanism for the overlapping phenotype of types VII and VIII OI.
- Published
- 2010
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35. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
- Author
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Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, and Jabs EW
- Subjects
- Amino Acid Sequence, Connexin 43 chemistry, Connexin 43 genetics, Humans, Molecular Sequence Data, Phenotype, Polymorphism, Genetic, Abnormalities, Multiple genetics, Mutation genetics
- Abstract
The predominantly autosomal dominant disorder, oculodentodigital dysplasia (ODDD) has high penetrance with intra- and interfamilial phenotypic variability. Abnormalities observed in ODDD affect the eye, dentition, and digits of the hands and feet. Patients present with a characteristic facial appearance, narrow nose, and hypoplastic alae nasi. Neurological problems, including dysarthria, neurogenic bladder disturbances, spastic paraparesis, ataxia, anterior tibial muscle weakness, and seizures, are known to occur as well as conductive hearing loss, cardiac defects, and anomalies of the skin, hair, and nails. In 2003, our analysis of 17 ODDD families revealed that each had a different mutation within the human gap junction alpha 1 (GJA1) gene which encodes the protein connexin 43 (Cx43). Since then at least 17 publications have identified an additional 26 GJA1 mutations and in this study, we present 28 new cases with 18 novel GJA1 mutations. We include tables summarizing the 62 known GJA1 nucleotide changes leading to Cx43 protein alterations and the phenotypic information available on 177 affected individuals from 54 genotyped families. Mutations resulting in ODDD occur in each of the nine domains of the Cx43 protein, and we review our functional experiments and those in the literature, examining the effects of 13 different Cx43 mutations upon gap junction activity., (Copyright 2009 Wiley-Liss, Inc.)
- Published
- 2009
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36. Duration of an intervention's impact on perceived breast cancer risk.
- Author
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Quillin JM, McClish DK, Jones RM, Wilson DB, Tracy KA, Bowen D, Borzelleca J, and Bodurtha JN
- Subjects
- Adult, Black or African American, Aged, Aged, 80 and over, Breast Neoplasms epidemiology, Female, Humans, Interviews as Topic, Middle Aged, Risk Assessment, United States epidemiology, White People, Breast Neoplasms psychology, Health Knowledge, Attitudes, Practice, Patient Education as Topic
- Abstract
This study explored risk perceptions after breast cancer risk appraisal. The study involved a randomized trial of Women's Health clinic patients (>or= 40 years old). Primary outcome was perceived breast cancer risk at baseline, 1 month, 6 months, and 18 months. Perceived breast cancer risks were higher than actual calculated risks at baseline. At baseline, 45% reported moderate/strong risk and 43% reported lower-than-average risk; 53% said that their risk was lower than 15%. Mean perceived lifetime risk was 31 out of 100. Throughout follow-up, the treatment group reported lower risks by all measures, as compared to controls. However, for African American women, perceived risk "out of 100 women" did not change. A brief health risk appraisal tends to lower breast cancer risk perceptions for at least 18 months, but the impact may vary by race/ethnicity. These findings could affect health behaviors, such as annual mammograms, which are influenced by perceived risk.
- Published
- 2008
- Full Text
- View/download PDF
37. Genetics assessment at the end of life: suggestions for implementation in clinic and future research.
- Author
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Quillin JM, Bodurtha JN, and Smith TJ
- Subjects
- DNA analysis, DNA blood, Family Health, Female, Genetic Counseling, Genetic Predisposition to Disease, Humans, Genetic Testing methods, Heart Failure genetics, Intracranial Hemorrhages genetics, Neoplasms genetics, Palliative Care methods, Terminal Care methods
- Abstract
Background: Approximately 5%-10% of all cancers and cardiovascular diseases have a significant genetic component. Of the 15 most frequent admission diagnoses for palliative care, at least one third have a significant genetic component which is testable, informative, and potentially life saving to the survivors. Once the patient has died, the chance to test or bank DNA for common inherited conditions such as breast cancer, colon cancer, cardiovascular disease, etc., is gone., Objective: To determine the frequency of genetic conditions for commonly seen palliative care conditions, the availability of testing or DNA banking for future testing, and how genetics assessment is helpful., Design: A case illustration and review of the currently published evidence., Results: Genetic testing fits the accepted model of family-centered palliative care, is ethical, and may lead to life-saving interventions. Risk assessment tools and helpful websites are available., Conclusions: While common genetic conditions should be recognized before end-of-life care, the palliative care health professional may be the only person to recognize the condition before death of the patient and loss of available DNA.
- Published
- 2008
- Full Text
- View/download PDF
38. The effect of a school-based educational intervention on gender differences in reported family cancer history.
- Author
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Quillin JM, Bodurtha JN, McClish DK, Hoy KN, Wallace IJ, Westerberg A, and Danish SJ
- Subjects
- Breast Neoplasms genetics, Breast Neoplasms prevention & control, Colonic Neoplasms genetics, Colonic Neoplasms prevention & control, Female, Humans, Male, Patient Education as Topic, Prostatic Neoplasms genetics, Prostatic Neoplasms prevention & control, School Health Services organization & administration, Sex Factors, Surveys and Questionnaires, Family Health, Health Education organization & administration, Medical History Taking, Schools
- Abstract
Background: Gender differences in reported family cancer history could reduce the effectiveness of genetic screening for cancer risk., Methods: We randomized 6 schools to teach ninth graders about health genealogy through workshops or offered a delayed intervention. We assessed the effect of the intervention on reported family history of various cancers along with gender and side of the family from which cancer was reported., Results: Girls reported more breast cancer in the family. Both sexes reported more maternal relatives with breast cancer. There were no treatment group effects., Conclusions: There are gender differences in reported family history of breast cancer.
- Published
- 2008
- Full Text
- View/download PDF
39. Recruiting diverse patients to a breast cancer risk communication trial--waiting rooms can improve access.
- Author
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Bodurtha JN, Quillin JM, Tracy KA, Borzelleca J, McClish D, Wilson DB, Jones RM, Quillin J, and Bowen D
- Subjects
- Adult, Aged, Female, Humans, Middle Aged, Risk, Breast Neoplasms therapy, Communication, Patient Acceptance of Health Care, Patient Selection, Randomized Controlled Trials as Topic
- Abstract
Low participation among underserved populations in health research constrains progress in public health practices. From 2003 to 2005, Women's Health Clinic patients at the VCU Health System were recruited to a trial investigating breast cancer risk communication. In secondary analyses, we examined dimensions of the recruitment of these diverse women. The sample characteristics (age, insurance, race and previous mammograms) were compared to the overall clinic. Of recruitment attempts for eligible women, 45% consented; of those who declined, the top cited reasons were lack of time (40%) and lack of interest (18%). Of 899 participants, 35% qualified for the indigent care program, compared to 31% of the overall clinic (P<0.001). Forty-five percent of participants were African American, compared to 54% of overall clinic patients (P<0.001). Participants were younger (50 vs. 53 years, P<0.001) than the overall clinic population. Nonrepresentative enrollment of patients in clinical trials is common and could lead to suboptimal applicability of findings. Although there were statistically significant race and age differences between the study sample and the overall population, we demonstrate that waiting room recruitment can engage diverse women in a clinical trial and cancer risk communication.
- Published
- 2007
40. Underinsurance and key health outcomes for children with special health care needs.
- Author
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Oswald DP, Bodurtha JN, Willis JH, and Moore MB
- Subjects
- Adolescent, Child, Child, Preschool, Female, Humans, Male, United States, Child Health Services standards, Medically Uninsured, Outcome Assessment, Health Care
- Abstract
Objective: The objective was to examine the relationship between underinsurance and other core outcomes for children with special health care needs., Methods: This study analyzed data from the National Survey of Children With Special Health Care Needs. Two alternative definitions of underinsurance, designated attitudinal and economic, were investigated. Logistic regression models in which the response variables were the child's status for each of the target core outcomes and underinsurance status was a dichotomous predictor variable were created. In addition to underinsurance status, 10 other predictor variables were included in the model., Results: Underinsurance is associated with the Maternal and Child Health Bureau core outcomes for children with special health care needs related to satisfaction with care and partnering with families in decision-making, access to a medical home, community-based service delivery that is easy to use, and access to services to make transitions to adulthood. In each case, children with special health care needs who were underinsured had significantly poorer outcomes than did children who were adequately insured., Conclusions: Although these results cannot clarify the cause of poorer outcomes, there are clear negative effects associated with the problem of underinsurance. Inadequate health care coverage for children with special health care needs may save dollars in the short-term but, if other outcomes are compromised, then children, their families, and society at large may pay a price in the longer term.
- Published
- 2007
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41. Spiritual coping, family history, and perceived risk for breast cancer--can we make sense of it?
- Author
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Quillin JM, McClish DK, Jones RM, Burruss K, and Bodurtha JN
- Subjects
- Adult, Female, Genetic Counseling methods, Genetic Predisposition to Disease, Humans, Mass Screening, Risk Factors, Surveys and Questionnaires, Adaptation, Psychological, Attitude to Health, Breast Neoplasms genetics, Breast Neoplasms psychology, Spirituality
- Abstract
Differences in spiritual beliefs and practices could influence perceptions of the role of genetic risk factors on personal cancer risk. We explored spiritual coping and breast cancer risk perceptions among women with and without a reported family history of breast cancer. Analyses were conducted on data from 899 women in primary care clinics who did not have breast cancer. Structural equation modeling (SEM), linear, and logistic modeling tested an interaction of family history of breast cancer on the relationship between spiritual coping and risk perceptions. Overall analyses demonstrated an inverse relationship between spiritual coping and breast cancer risk perceptions and a modifying effect of family history. More frequent spiritual coping was associated with lower risk perceptions for women with positive family histories, but not for those with negative family histories. Results support further research in this area that could influence communication of risk information to cancer genetic counseling patients.
- Published
- 2006
- Full Text
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42. Defining underinsurance among children with special health care needs: a Virginia sample.
- Author
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Oswald DP, Bodurtha JN, Broadus CH, Willis JH, Tlusty SM, Bellin MH, and McCall BR
- Subjects
- Child, Data Collection, Female, Humans, Male, Virginia, Disabled Persons, Health Services Needs and Demand, Medically Uninsured statistics & numerical data
- Abstract
Objectives: The study sought to: 1) examine the national Children with Special Health Care Needs (CSHCN) survey to determine whether there are items that can serve to operationalize alternative definitions of underinsurance; 2) construct definitions from the survey items that are consistent with Structural and Economic definitions of underinsurance and devise an algorithm for determining underinsurance for each; and 3) compare these two underinsurance definitions with the Maternal and Child Health definition of inadequate insurance, a definition that takes an Attitudinal approach to the construct., Methods: Analyses included Virginia children who were insured throughout the survey period. Survey items from the national CSHCN survey were examined to identify items related to underinsurance. Items were divided into groups corresponding to three definitions of insurance (Attitudinal, Structural, and Economic). Algorithms were established, and underinsurance rates calculated for each definition. Logistic regression models were constructed to investigate demographic characteristics related to underinsurance., Results: Different percentages of Virginia CSHCN were found to be underinsured based on the definitions of Attitudinal (28.9%), Economic (25.6%), and Structural (2.9%). Eight demographic characteristics and the pervasiveness of the child's special health care needs were examined in relation to underinsurance. For the Attitudinal definition, poverty level and pervasiveness were significant predictors in the model. In the model predicting Economic underinsurance status, pervasiveness and three of the demographic characteristics significantly predicted underinsurance status. In the multivariate logistic regression model for the Structural definition, none of the predictors was significantly related to underinsurance., Conclusions: These findings demonstrate that alternative definitions of underinsurance yield dramatically different underinsurance rates. Further, even when yielding similar rates, alternative definitions may identify substantially different sets of children. The likelihood of being underinsured has a strong association with low-income status and pervasiveness of the child's special health care needs. Understanding these factors and their implications will be important when planning accessible and comprehensive health plans and care systems for CSHCN.
- Published
- 2005
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