Women's Knowledge of Genomic Testing and Precision Medicine in Breast Cancer Treatment Decision-Making.

PURPOSE: To understand awareness of genetic and genomic testing, as well as decision-making, in women diagnosed with breast cancer. PARTICIPANTS & SETTING: 29 African American/Black and Latina/Hispanic women diagnosed with breast cancer. METHODOLOGIC APPROACH: A semistructured interview guide was used in focus groups conducted via videoconference. Transcripts were analyzed using thematic analysis. FINDINGS: Many of the women understood the concept of genetic testing to identify the BRCA1/BRCA2 variant, but none of them were aware of genomic testing and its implications for personalized medicine. Participants discussed provider and patient roles in treatment decision-making, identifying roles that the physician might play in treatment planning, from primary decision-maker to collaborator. IMPLICATIONS FOR NURSING: As the number of precision cancer treatments expands, patients must be able to comprehend the information provided to make informed decisions about their treatment. Providers should do a better job of explaining potential treatments so that patients feel they are part of the decision-making process. Addressing gaps in treatment access and uptake requires providers to prioritize patient engagement and understanding.

Parental Perceptions and Child Emotional and Behavioral Problems in Autism.

Emotional and behavioral difficulties in children with autism often present problems for families seeking appropriate treatment interventions. Using data from the 2011 Survey of Pathways to Diagnosis and Services, ordinal logistic regression models were used to examine the association between parental perceptions about autism and their reports of child emotional and behavioral problems. Results showed that parents who attributed their child's autism to environmental factors, experienced emotional upset or confusion about autism, or perceived the condition to be pervasive or burdensome, were more likely to reported clinically significant emotional and behavioral difficulties. Findings suggest that support services must consider parent perceptions when developing interventions to assist with children's emotional and behavioral challenges. Implications for practice and research are discussed.

Sick of inequality: gender and support for paid sick days.

BACKGROUND: The availability of paid sick days (PSD) is on the forefront of policy issues relating to women's health and well-being. Previous research regarding PSD and other forms of family-work balance legislation has linked access to paid time off from work for addressing one's own or another's health concerns to a range of health benefits for working women and their families. In general, public support for such policies is high, but little work has tested the extent to which support extends to PSD. Researchers have yet to engage in a rigorous statistical analysis of public opinion on PSD, including whether opinion varies by gender. METHODS: Using data from a 2013 poll of adults in New Jersey (n = 925), we bridged this research gap by conducting the first multivariate analysis of public attitudes toward PSD. RESULTS: As expected, we found markedly high levels of support for PSD across all respondents, with a preponderance of most sociodemographic categories supporting proposed PSD legislation in New Jersey. We also found that gender was a strong predictor of support for PSD, with women significantly (odds ratio, 1.916; p ≤ .01) more likely than men to be in favor of such legislation. CONCLUSIONS: We discuss the implications of our findings for future work on PSD as well as for research concerning women, wellness, and work-life legislation more broadly.

Transcatheter closure of atrial septal communication during pregnancy in women with Ebstein's anomaly of the tricuspid valve and cyanosis.

Transcatheter atrial septal defect occlusion is described in three pregnant patients with Ebstein's anomaly and exercise-induced cyanosis. Procedures took place in the second and third trimester. Careful hemodynamic testing was performed prior to permanent atrial septal occlusion to confirm the capacity of the right ventricle to accept the entirety of systemic venous return in the volume-expanded state of pregnancy. Outcomes for mother and fetus were favorable in all patients with significant reduction in maternal symptoms and resolution of cyanosis.

Efficacy of endothelin blockade in adults with Fontan physiology.

OBJECTIVE: Phosphodiesterase-5 inhibitors have shown to improve cardiac output and functional capacity in Fontan patients. We sought to test the efficacy and safety of endothelin blockade with bosentan in adult patients with Fontan physiology. DESIGN: Ten patients were enrolled and seven patients completed this single-center open-label clinical trial. Patients were treated with bosentan for 4 months. Cardiac magnetic resonance imaging (MRI), 6-minute walking distance (6MWD), brain natriuretic peptide, and New York Heart Association functional class were compared before and after treatment using paired t-test. RESULTS: The 6MWD improved by 73 m, from a mean of 435 m (standard deviation [SD] = 92, standard error [SE] = 35) to 508 m (SD = 93, SE = 35) (P = .03). MRI resting aortic flow increased from 3.3 L/minute (SD = 1.27, SE = 0.73) to 4.4 L/minute (SD = 0.9, SE = 0.54) (P = .03). New York Heart Association class was unchanged in three patients, improved in three patients and worsened in one patient. Brain natriuretic peptide, aspartate aminotransferase, and alanine aminotransferase did not change significantly. Of the three patients with elevated baseline bilirubin, two normalized at the completion of the study, while the other was unchanged. Mean duration of therapy was 4.1 ± 0.51 months. Three adverse advents occurred. One patient complained of fatigue and chest pain after 87 days and withdrew from the study. After extensive workup, it was determined that her symptoms were not related to treatment. The second patient suffered palpitations and fatigue after 75 days; no concerning arrhythmias were identified and symptoms improved with increased antiarrhythmic dose. The third patient developed fatigue on therapy and decided to stop therapy; fatigue improved following drug discontinuation. There were no deaths or hospitalizations. CONCLUSIONS: In this cohort of adult patients with Fontan physiology, endothelin blockade with bosentan resulted in improved 6MWD and MRI-derived resting cardiac output, suggesting a positive effect on pulmonary vascular resistance and pulmonary blood flow. Bosentan was well tolerated and hepatic function was not adversely affected.

Improving heart disease knowledge and research participation in adults with congenital heart disease (the Health, Education and Access Research Trial: HEART-ACHD).

OBJECTIVE: The objective of this prospective multi-center study was to evaluate heart disease knowledge within the adult congenital heart disease (ACHD) population, pilot an educational intervention and assess interest in research participation among new patients at ACHD clinics. BACKGROUND: Many adults with congenital heart disease lack knowledge about their heart condition that may contribute to undesirable outcomes. METHODS: Patients ≥18 years of age were recruited upon their first presentation to an ACHD clinic and underwent an educational intervention consisting of creation of a personal health information 'passport' and an introduction to web-based resources. Subjects were asked to complete initial and follow-up surveys documenting their perceived knowledge. RESULTS: Nine hundred twenty-two subjects were recruited from 12 ACHD centers, and 520 (57%) completed follow-up surveys. Patients who completed the follow-up survey were more likely to be women, have more education, and have mild heart disease. At follow-up, the ability of the subjects to name their heart condition improved (78% to 83%, p=0.002). Improvements were seen in mean Likert items regarding perceived knowledge of appropriate exercise (p<0.0001), symptoms of heart rhythm problems or endocarditis (p<0.0001), reasons for cardiac tests (p<0.007), and birth control options and pregnancy safety (p<0.0001). On follow-up, subjects reported a better understanding of medical research (p<0.01), and higher interest in research participation (p<0.003). CONCLUSION: This joint clinician-patient pilot program will help inform future efforts toward patient education and participation in research with a focus on standardization of protocols for life-long longitudinal follow-up and continued multi-center collaboration in the ACHD population.

Prevalence and predictors of gaps in care among adult congenital heart disease patients: HEART-ACHD (The Health, Education, and Access Research Trial).

OBJECTIVES: The goal of this project was to quantify the prevalence of gaps in cardiology care, identify predictors of gaps, and assess barriers to care among adult congenital heart disease (adult CHD) patients. BACKGROUND: Adult CHD patients risk interruptions in care that are associated with undesired outcomes. METHODS: Patients (18 years of age and older) with their first presentation to an adult CHD clinic completed a survey regarding gaps in, and barriers to, care. RESULTS: Among 12 adult CHD centers, 922 subjects (54% female) were recruited. A >3-year gap in cardiology care was identified in 42%, with 8% having gaps longer than a decade. Mean age at the first gap was 19.9 years. The majority of respondents had more than high school education and knew their heart condition. The most common reasons for gaps included feeling well, being unaware that follow-up was required, and complete absence from medical care. Disease complexity was predictive of a gap in care with 59% of mild, 42% of moderate, and 26% of severe disease subjects reporting gaps (p < 0.0001). Clinic location significantly predicted gaps (p < 0.0001), whereas sex, race, and education level did not. Common reasons for returning to care were new symptoms, referral from provider, and desire to prevent problems. CONCLUSIONS: Adult CHD patients have gaps in cardiology care; the first lapse commonly occurred at age ∼19 years, a time when transition to adult services is contemplated. Gaps were more common among subjects with mild and moderate diagnoses and at particular locations. These results provide a framework for developing strategies to decrease gaps and address barriers to care in the adult CHD population.

Usefulness of serum brain natriuretic peptide to predict adverse events in patients with the Eisenmenger syndrome.

The aim of this study was to evaluate the prognostic value of brain natriuretic peptide (BNP) in outpatients with the Eisenmenger syndrome (ES). BNP is often elevated in patients with cyanotic congenital heart disease. The clinical utility of BNP in patients with cyanotic congenital heart disease and the ES has not been clearly delineated. Records of adults with ES who had undergone serum BNP measurement were reviewed. The primary end point was death or heart failure admission. Fifty-three patients were included, with 15 patients (28%) meeting the primary end point (death in 7, heart failure hospitalization in 8). Mean and median baseline BNP in patients meeting the primary end point were 322 ± 346 and 179 pg/ml, compared to 100 ± 157 and 41 pg/ml in those not meeting the primary end point (p = 0.0029). A Cox proportional-hazards model using baseline BNP between the 2 groups yielded a hazard ratio of 1.84 (95% confidence interval [CI] 1.19 to 2.85, p = 0.006). The relative risk for baseline BNP level >140 pg/ml was 4.62 (95% CI 1.80 to 11.3, p = 0.008). Patients who met the primary end point increased their BNP levels by 42.5 pg/ml per year (95% CI 12.09 to 72.95, p = 0.006) compared to 7.2 pg/ml per year (95% CI 2.01 to 12.47, p = 0.007) in patients who did not meet the primary end point. In conclusion, elevated BNP levels are predictive of death or heart failure admission in patients with the ES. A serum BNP level >140 pg/ml is a useful tool in identifying high-risk patients.

The effects of childhood SNAP use and neighborhood conditions on adult body mass index.

The disproportionate number of individuals who are obese or overweight in the low-income U.S. population has raised interest in the influence of neighborhood conditions and public assistance programs on weight and health. Generally, neighborhood effects and program participation effects have been explored in separate studies. We unite these two areas of inquiry, using the 1968-2005 Panel Study of Income Dynamics (PSID) to examine the long-term effects of childhood Supplemental Nutrition Assistance Program (SNAP) participation, neighborhood conditions, and the interaction of these two, on adult body mass index (BMI). Using sibling fixed-effects models to account for selection bias, we find that relative to children in other low-income families, children in SNAP-recipient households have higher average adult BMI values. However, the effects of childhood SNAP usage are sensitive to both residential neighborhood and age at receipt. For those growing up in advantaged neighborhoods, projected adult BMI is higher for children in SNAP-recipient households than for children in low-income, nonrecipient households. In contrast, for those growing up in less-advantaged areas, adult BMI differences between children in SNAP-recipient and those in low-income, nonrecipient households are small. SNAP usage during preschool years (0 to 4) has no impact on adult BMI scores. However, at later childhood ages, the time elapsed receiving SNAP income increases adult BMI values relative to a condition of low-income nonreceipt.

Efficacy and safety of bosentan in adults with simple and complex Eisenmenger's syndrome.

BACKGROUND: Eisenmenger's syndrome (ES) is associated with decreased longevity and reduced functional capacity. Targeted pharmacologic therapies improve functional capacity and survival in these patients. We sought to compare the response of patients with simple vs. complex ES following initiation of bosentan. METHODS: ES patients with a history of bosentan use were identified by chart review. Simple ES was defined as ES associated with atrial septal defect, ventricular septal defect, or patent ductus arteriosus. Complex ES consisted of patients with truncus arteriosus and single ventricle congenital heart disease. Six-minute walking distance (6MWD), maximal oxygen consumption (VO(2) max), brain natriuretic peptide (BNP), and resting oxygen saturation were compared between simple and complex ES patients before and after bosentan treatment. RESULTS: Twenty-four patients were included (11 simple, 13 complex). Resting oxygen saturation, 6MWD, VO(2) max, and BNP were not significantly different between the two groups prior to bosentan initiation. Ten patients received bosentan monotherapy, and bosentan was used in combination with sildenafil in 13 (five simple, eight complex). One patient received bosentan with iloprost. Mean duration of therapy was 38 ± 14 months in the simple group and 40 ± 8.1 months in the complex group (P= NS). Posttreatment, 6MWD increased from 274 ± 135 m to 326 ± 106 m in simple ES patients (P= .32). 6MWD in patients with complex ES increased from 332 ± 51 m to 364 ± 109 (P= .028). VO(2) max improved from 13.4 ± 3.8 to 17 ± 6 (P= .54) in the simple group, while VO(2) max in the complex group improved from 12.7 ± 2.3 to 15.5 ± 2.2 (P= .17). There was minimal change in BNP or resting oxygen saturation between the groups. CONCLUSIONS: Treatment with bosentan is both safe and effective in patients with both simple and complex forms of ES.

Arrhythmia recurrence in adult patients with single ventricle physiology following surgical Fontan conversion.

OBJECTIVES: To evaluate the incidence of atrial tachy-arrhythmia (AT) recurrence following conversion from right atrial-pulmonary artery (RA-PA) Fontan to total cavopulmonary connection (TCPC) in adults. BACKGROUND: AT is a recognized sequel of Fontan palliation, especially in RA-PA Fontans, and is associated with significant morbidity. While catheter ablation achieves fairly reliable short-term success with low morbidity, conversion to TCPC with arrhythmia surgery is a highly effective treatment option for the classical Fontan patients with incessant AT. METHODS: Single center retrospective review. RESULTS: Twenty-seven adults underwent Fontan conversion from RA-PA to TCPC, mostly for AT indications (n = 24). Nine (33%) underwent conversion to a lateral tunnel (LT) and 18 (67%) to an extracardiac (EC) Fontan. Two patients died <30 days post-operatively. Both had liver failure and had been turned down for cardiac/liver transplantation. In-hospital complications occurred in 15/27 patients (55%), including recurrence of AT requiring cardioversion in six patients (22%) and persistent pleural effusions in 4 (15%). Mean follow-up was 4.2 years (range 3 months-14 years). Functional capacity improved from mean New York Heart Association (NYHA) class 1.8 pre-conversion to 1.2 post-conversion (P= 0.008). Twenty-one patients had concomitant arrhythmia surgery (MAZE in 12 patients with IART and Cox-MAZE in nine patients with A-Fib +/- IART). Of these, 3/21 (14%) had AT recurrence >3 months following conversion. CONCLUSIONS: Conversion from RA-PA Fontan to TCPC, with arrhythmia surgery, decreases AT recurrence and improves functional capacity. The risk of peri-operative mortality is highest in patients with cirrhosis. AT recurred in 14% of patients.

The effects of childhood neighborhood conditions on self-reports of adult health.

Studies have shown that neighborhood conditions and experiences may individually or collectively impact health. Using 38 years of longitudinal data from the Panel Study of Income Dynamics (PSID), we clarify the relationship between child and adult neighborhood quality and self-reported adult health, using sibling fixed effects models. Overall, we find support for positive long-term health effects, both for growing up in affluent neighborhoods and for growing up in neighborhoods where one is surrounded by comparative advantage. Relative to childhood neighborhood factors, adult neighborhoods have little to no effect in almost every model specification. We find mixed evidence, as well, that these relationships are stronger for nonwhites than for whites. Our findings suggest that childhood is a critical point for intervention in the long-term health effects of residential conditions.