An Exploration of Gene-Gene Interactions and Their Effects on Hypertension.

Hypertension tends to perpetuate in families and the heritability of hypertension is estimated to be around 20-60%. So far, the main proportion of this heritability has not been found by single-locus genome-wide association studies. Therefore, the current study explored gene-gene interactions that have the potential to partially fill in the missing heritability. A two-stage discovery-confirmatory analysis was carried out in the Framingham Heart Study cohorts. The first stage was an exhaustive pairwise search performed in 2320 early-onset hypertensive cases with matched normotensive controls from the offspring cohort. Then, identified gene-gene interactions were assessed in an independent set of 694 subjects from the original cohort. Four unique gene-gene interactions were found to be related to hypertension. Three detected genes were recognized by previous studies, and the other 5 loci/genes (MAN1A1, LMO3, NPAP1/SNRPN, DNAL4, and RNA5SP455/KRT8P5) were novel findings, which had no strong main effect on hypertension and could not be easily identified by single-locus genome-wide studies. Also, by including the identified gene-gene interactions, more variance was explained in hypertension. Overall, our study provides evidence that the genome-wide gene-gene interaction analysis has the possibility to identify new susceptibility genes, which can provide more insights into the genetic background of blood pressure regulation.

Kansas City Cardiomyopathy Questionnaire Administered to Hospitalized Patients With Heart Failure.

BACKGROUND AND PURPOSE: The psychometric properties of the Kansas City Cardiomyopathy Questionnaire (KCCQ) have been examined primarily in community-dwelling patients with heart failure (HF). The objective of this research was to examine the properties of the KCCQ administered to patients hospitalized with HF (N = 233). METHODS: Confirmatory factor analysis, Cronbach's alphas, and correlations were performed to examine the scale's dimensions, reliability, and validity. RESULTS: Confirmatory factor analysis indicated a 5-factor solution (63.6% of the variance). The Cronbach's alpha levels were greater than .70, except for the self-efficacy dimension (.60). Convergent validity was not verified between the KCCQ and several illness severity measures. CONCLUSIONS: The psychometric properties of the KCCQ may be different based on the population in which the KCCQ is administered, which may have clinical implications.

Leisure Activity Enjoyment of Children with Autism Spectrum Disorders.

Enjoyment is a fundamental component of activity participation. This study compared leisure activity enjoyment experienced by typically developing children (TD; n = 64) and those with autism spectrum disorders (ASD; n = 67) from age 6 to 13. The TD children enjoyed formal and physical activities significantly more than the children with ASD. Symptom severity was negatively related to enjoyment of overall, formal, physical and social activities. Older children with ASD enjoyed overall, informal, recreational, and self-improvement activities significantly less than younger children, but no differences were seen across TD age groups. Children with ASD enjoyed swimming significantly more than TD children. Understanding patterns of activity enjoyment is useful for being better able to address a child's motivation to participate in various life activities.

Psychometrics of the Kansas City Cardiomyopathy Questionnaire Adapted for Family Caregiver/Significant Other.

BACKGROUND AND PURPOSE: The Kansas City Cardiomyopathy Questionnaire (KCCQ) was adapted to be administered to the family caregiver/significant other (FC/SO) of hospitalized patients with heart failure (HF). The objective was to examine the psychometrics of the adapted scale (KCCQ-SO). METHODS: Factor analysis, Cronbach's alpha, and correlations were used. RESULTS: A 5-factor solution was found that explained 67.9% of the variance. The internal consistency of the KCCQ-SO factors were all greater than .70. Patient and FC/SO perceived health status scores were significantly related. CONCLUSIONS: Because the scores were found to have high internal consistency and correlated with patient scores on the KCCQ, there is evidence that the FC/SOs' reports may be used in circumstances when the patient is unable or unwilling to answer questions.

Multi-joint foot kinetics during walking in people with Diabetes Mellitus and peripheral neuropathy.

Neuropathic tissue changes can alter muscle function and are a primary reason for foot pathologies in people with Diabetes Mellitus and peripheral neuropathy (DMPN). Understanding of foot kinetics in people with DMPN is derived from single-segment foot modeling approaches. This approach, however, does not provide insight into midfoot power and work. Gaining an understanding of midfoot kinetics in people with DMPN prior to deformity or ulceration may help link foot biomechanics to anticipated pathologies in the midfoot and forefoot. The purpose of this study was to evaluate midfoot (MF) and rearfoot (RF) power and work in people with DMPN and a healthy matched control group. Thirty people participated (15 DMPN and 15 Controls). An electro-magnetic tracking system and force plate were used to record multi-segment foot kinematics and ground reaction forces during walking. MF and RF power, work, and negative work ratios were calculated and compared between groups. Findings demonstrated that the DMPN group had greater negative peak power and reduced positive peak power at the MF and RF (all p≤0.05). DMPN group negative work ratios were also greater at the MF and RF [Mean difference MF: 9.9%; p=0.24 and RF: 18.8%; p<0.01]. In people with DMPN, the greater proportion of negative work may negatively affect foot structures during forward propulsion, when positive work and foot stability should predominate. Further study is recommended to determine how both MF and RF kinetics influence the development of deformity and ulceration in people with DMPN.

Living with advanced heart failure or COPD: experiences and goals of individuals nearing the end of life.

The last phase of life of patients with end-stage heart failure (HF) or chronic obstructive pulmonary disease (COPD) is marked by high symptom burden and uncertainty about the future. Few enroll in hospice, and their preferences for care remain unknown. The purpose of this qualitative study was to describe the experiences and goals for care of patients with end-stage HF and COPD who were recently discharged from the hospital. Forty semi-structured interviews were completed with 20 participants. Despite conditions considered life-threatening by clinicians, participants believed they still had time. They hoped that their illnesses would remain stable, although specific experiences made them think they might be worsening. All expected that their doctors would tell them when their illnesses became life-threatening.

Patient and family members' perceptions of palliative care in heart failure.

PURPOSE: To describe patients with HF and their family members' (FMs) experiences with, and perceptions of, inpatient PC consultations. METHODS: 40 semi-structured interviews were completed with 24 patients with late-stage HF and/or 16 designated FMs. Content analysis was used to derive themes from the data. RESULTS: Four main themes resulted. PARTICIPANTS: 1) were generally ill-prepared for the PC consult; 2) pursued a plan that reflected their own understanding of patient prognosis, rather than that of the clinician; 3) described a primarily supportive role for PC; 4) often rejected or deferred PC services if they viewed hospice and PC as synonymous. CONCLUSION: Lack of awareness of PC and the conflation of PC and hospice were barriers to PC, and many participants felt that PC services are needed to fill the gaps in their care. A collaborative model of care may best meet the complex needs of this group.

Variations in patterns of care activities for nursing home residents with heart failure.

Early clues of change in heart failure (HF) status, such as weight gain or reduced exercise tolerance, may be missed by caregivers in nursing homes (NHs) since daily weight measurement and functional assessments may not be performed routinely. These factors are likely to contribute to a delay in non-emergent care for the resident. The purpose of this study was to examine patterns of care activities provided in the NH setting to residents with HF and document variations in these care patterns across a random national sample of NHs. Care activities performed daily within a large proportion of NHs for residents with HF were assessment for changes in HF symptoms (94%), changes in mental status (91%), and changes in swelling/edema (85%). There was wide variation in care patterns. Not all evidence-based guidelines for HF care and monitoring were followed in the NH setting, which could affect hospitalizations and other outcomes.

Practice patterns of heart failure nurses.

OBJECTIVE: Little is known about the practice patterns of nurses who work in the specialty of heart failure (HF). This specialty includes inpatient and outpatient sites for practice that incorporate intensive care to rehabilitation. The purpose of this study was to describe the current practice of nurses who are members of the American Association of Heart Failure Nurses (AAHFN). METHODS: A convenience sample of nurses attending the 2010 Annual Meeting of AAHFN was surveyed to determine current practice patterns. RESULTS: The mean age of the nurses completing the survey was 48 years (standard deviation [SD] +10), and the majority were white (85%) and female (98%). Approximately half (48%) completed a Master's degree. The mean time worked as a nurse was 23 years (SD +10), with a mean of 11 years (SD +8.2) caring for patients with HF. Both HF education and physical assessment were reported to be provided frequently. CONCLUSION: This survey provides insight into the practice patterns of HF nurses. Continued monitoring of this role is warranted and can serve to assist the AAHFN in advancing HF knowledge and skills.

Effect of leisure activities on inflammation and cognitive function in an aging sample.

Cardiovascular disease risk factors (CVDRFs) increase the risk of dementia. The purpose of this study was to examine whether leisure activities (mental, physical, and social activities) modified the effect of CVDRFs on inflammatory markers and cognitive function in middle and old age. A secondary-data analysis study was conducted using data from 405 middle-age participants (40-59 years) and 342 old-age participants (60-84 years) who participated in the Survey of Midlife Development in the United States (MIDUS). CVDRFs were obtained from a combination of self-report medical history and blood-based biomarkers. Three CVDRF groups (≤1, 2, and ≥3 CVDRFs) were identified. More CVDRFs were significantly associated with higher levels of inflammatory markers in both age groups, and associated with lower levels of executive function (EF) in the old age group. CVDRFs were not related to the frequency of leisure activities in either age group. After controlling for covariates, higher levels of physical activities were significantly associated with lower levels of inflammatory markers, and higher levels of mental activities were associated with higher levels of cognitive function. In the old age group, physical activities also moderated the effect of CVDRFs on episodic memory (EM), and mental activities moderated the effect of CVDRFs on interleukin-6 (IL-6). Multiple CVDRFs may be associated with poorer cognitive function and higher inflammatory markers, but middle-age and older adults with CVDRFs may not engage in frequent physical and cognitive activities that may be protective. It is important to develop strategies to facilitate engagement in these activities from midlife.

Who is attending? End-of-life decision making in the intensive care unit.

PURPOSE: Traditional expectations of the single attending physician who manages a patient's care do not apply in today's intensive care units (ICUs). Although many physicians and other professionals have adapted to the complexity of multiple attendings, ICU patients and families often expect the traditional, single physician model, particularly at the time of end-of-life decision making (EOLDM). Our purpose was to examine the role of ICU attending physicians in different types of ICUs and the consequences of that role for clinicians, patients, and families in the context of EOLDM. METHODS: Prospective ethnographic study in a university hospital, tertiary care center. We conducted 7 months of observations including 157 interviews in each of four adult critical care units. RESULTS: The term "attending physician" was understood by most patients and families to signify an individual accountable person. In practice, "the attending physician" was an ICU role, filled by multiple physicians on a rotating basis or by multiple physicians simultaneously. Clinicians noted that management of EOLDM varied in relation to these multiple and shifting attending responsibilities. The attending physician role in this practice context and in the EOLDM process created confusion for families and for some clinicians about who was making patient care decisions and with whom they should confer. CONCLUSIONS: Any intervention to improve the process of EOLDM in ICUs needs to reflect system changes that address clinician and patient/family confusion about EOLDM roles of the various attending physicians encountered in the ICU.

Family members' informal roles in end-of-life decision making in adult intensive care units.

BACKGROUND: To support the process of effective family decision making, it is important to recognize and understand informal roles that various family members may play in the end-of-life decision-making process. OBJECTIVE: To describe some informal roles consistently enacted by family members involved in the process of end-of-life decision making in intensive care units. METHODS: Ethnographic study. Data were collected via participant observation with field notes and semistructured interviews on 4 intensive care units in an academic health center in the mid-Atlantic United States from 2001 to 2004. The units studied were a medical, a surgical, a burn and trauma, and a cardiovascular intensive care unit. PARTICIPANTS: Health care clinicians, patients, and family members. RESULTS: Informal roles for family members consistently observed were primary caregiver, primary decision maker, family spokesperson, out-of-towner, patient's wishes expert, protector, vulnerable member, and health care expert. The identified informal roles were part of families' decision-making processes, and each role was part of a potentially complicated family dynamic for end-of-life decision making within the family system and between the family and health care domains. CONCLUSIONS: These informal roles reflect the diverse responses to demands for family decision making in what is usually a novel and stressful situation. Identification and description of these informal roles of family members can help clinicians recognize and understand the functions of these roles in families' decision making at the end of life and guide development of strategies to support and facilitate increased effectiveness of family discussions and decision-making processes.

Heart failure patients' time, symptoms, and actions before a hospital admission.

The objective of this study was to compare newly diagnosed heart failure (HF) patients (n = 64) with chronic HF patients (n = 148) who had been hospitalized on their presenting symptoms and treatment delay times, whom the 2 groups notified and when, the advice they were given by those notified, and the actions they initiated before their hospitalization. Participants in the 2 groups similarly reported shortness of breath on exertion, orthopnea, weakness, edema, and cough. A greater percent of participants in the group with an HF history reported having fatigue compared to the group with no HF history (chi2 = 4.32, P < .05). Both groups were similar in the time they spent with symptoms before hospital admission (median of 7 days), the time until they notified family members after symptom onset (6 hours to 1.5 days), and the time until they notified their physicians after symptom onset (1.5 to 3 days). The 2 groups varied significantly on the following findings: physicians advised participants with an HF history to call 911 significantly more often than they told the participants with no HF history to call 911 (chi2 = 4.33, P < .05), physicians told those with no HF history to come to the office (chi2 = 5.04, P < .05) or wait for an upcoming appointment (chi2 = 4.78, P < .05) more often than they made those recommendations to the group with an HF history, and participants with an HF history were significantly more likely to call 911 than the participants with no HF history do (chi2 = 4.18, P < .05). The clinical implication is that individuals with either new or worsening HF need to recognize a constellation of possible HF symptoms. Those with chronic HF need to also be aware that increasing fatigue may be an important symptom of worsening HF for them. Both groups of HF patients should report their symptoms promptly to their healthcare providers for early intervention.

Intensive care unit cultures and end-of-life decision making.

PURPOSE: Prior researchers studying end-of-life decision making (EOLDM) in intensive care units (ICUs) often have collected data retrospectively and aggregated data across units. There has been little research, however, about how cultures differ among ICUs. This research was designed to study limitation of treatment decision making in real time and to evaluate similarities and differences in the cultural contexts of 4 ICUs and the relationship of those contexts to EOLDM. MATERIALS AND METHODS: Ethnographic field work took place in 4 adult ICUs in a tertiary care hospital. Participants were health care providers (eg, physicians, nurses, and social workers), patients, and their family members. Participant observation and interviews took place 5 days a week for 7 months in each unit. RESULTS: The ICUs were not monolithic. There were similarities, but important differences in EOLDM were identified in formal and informal rules, meaning and uses of technology, physician roles and relationships, processes such as unit rounds, and timing of initiation of EOLDM. CONCLUSIONS: As interventions to improve EOLDM are developed, it will be important to understand how they may interact with unit cultures. Attempting to develop one intervention to be used in all ICUs is unlikely to be successful.

Symptom clusters in acute myocardial infarction: a secondary data analysis.

BACKGROUND: Early recognition of acute myocardial infarction (AMI) symptoms and reduced time to treatment may reduce morbidity and mortality. People having AMI experience a constellation of symptoms, but the common constellations or clusters of symptoms have yet to be identified. OBJECTIVES: To identify clusters of symptoms that represent AMI. METHODS: This was a secondary data analysis of nine descriptive, cross-sectional studies that included data from 1,073 people having AMI in the United States and England. Data were analyzed using latent class cluster analysis, an a theoretical method that uses only information contained in the data. RESULTS: Five distinct clusters of symptoms were identified. Age, race, and sex were statistically significant in predicting cluster membership. None of the symptom clusters described in this analysis included all of the symptoms that are considered typical. In one cluster, subjects had only a moderate to low probability of experiencing any of the symptoms analyzed. DISCUSSION: Symptoms of AMI occur in clusters, and these clusters vary among persons. None of the clusters identified in this study included all of the symptoms that are included typically as symptoms of AMI (chest discomfort, diaphoresis, shortness of breath, nausea, and lightheadedness). These AMI symptom clusters must be communicated clearly to the public in a way that will assist them in assessing their symptoms more efficiently and will guide their treatment-seeking behavior. Symptom clusters for AMI must also be communicated to the professional community in a way that will facilitate assessment and rapid intervention for AMI.

Delay in seeking care for symptoms of acute myocardial infarction: applying a theoretical model.

Thirty percent of people who experience symptoms of acute myocardial infarction (AMI) do not seek care until more than 2-6 hours after onset of symptoms, increasing their risk for morbidity and mortality. Using a model based on two frameworks, the common sense model of illness representation (CSM) and goal expectancy, variables associated with delay were examined to identify the most salient predictors of delay in seeking care for AMI. Hierarchical regression analysis revealed that the set of illness representation components from the CSM was a significant predictor of time to seek care, but individually, only recognition of symptoms as being caused by the heart was significant. Providing accurate information on symptoms of AMI may lead to early recognition, reduced delay, and reduced morbidity and mortality.

Perception of risk for coronary heart disease in women undergoing coronary angiography.

BACKGROUND: Even though coronary heart disease (CHD) is the leading cause of death among women in the United States, most women underestimate their risk of developing CHD. DESIGN: Survey to examine the relationship between women's recollection of being told they were at risk for CHD and the presence of risk factors. SETTING/PARTICIPANTS: A convenience sample of 450 women undergoing coronary angiography at 1 university hospital. MAIN OUTCOME MEASURES: Self-recollection of being told one was at risk for CHD and presence of CHD risk factors. RESULTS: Most women (83.6%) had 3 or more risk factors, 12.2% had 1 or 2 risk factors, and 0.9% had no risk factors. Only 35% of women recalled being told that they were at risk for CHD. Few relationships were found between being told one was at risk for CHD and the presence of individual risk factors. No difference was found in the mean number of risk factors among women who did and did not recall being told they were at risk. In logistic regression analysis, only 5% of the variance in recollection of being told one was at risk was predicted, with only age, education, and having a high cholesterol level significantly contributing to the equation. CONCLUSIONS: Even though women may not remember conversations with their health care provider about CHD risk, the possibility that risk factors were not adequately assessed cannot be discounted. Patient-provider conversations about CHD risk factors should be encouraged as the first step toward successful risk reduction.