Analysis of variability of clinical manifestations in Waardenburg syndrome

Expression of clinical findings of Waardenburg syndrome type 1 (WS1) and type 2 (WS2) is extremely variable. Using our collection of 26 WS1 and 8 WS2 families, we analyzed the occurrence, severity, and symmetry of clinical manifestations associated with WS. We found significant differences between WS1 and WS2 in deafness, and in pigmentary and craniofacial anomalies. Factor analysis was used to identify manifestations which covaried, resulting in 2 orthogonal factors. Since mean factor scores were found to differ when compared between WS1 and WS2, we suggest that these factors could be useful in distinguishing WS types. We found that the WS gene was transmitted from mothers more often than from fathers. We also extensively examined the W-Index, a continuous measure of dystopia canthorum. Our data suggest that use of the W-Index to discriminate between affected WS1 and WS2 individuals may be problematic since 1) ranges of W-Index scores of affected and unaffected individuals over-lapped considerably within both WS1 and WS2, and 2) a considerable number of both affected and unaffected WS2 individuals exhibited W-index scores consistent with dystopia canthorum. Misclassification of families may have implications for risk assessment of deafness, since WS2 families have been reported to have greater incidence of deafness, as confirmed in our study. © 1995 Wiley-Liss, Inc.     

Development of a diabetes care management curriculum in a family practice residency program.

Improving the quality of care for patients with chronic illness has become a high priority. Implementing training programs in disease management (DM) so the next generation of physicians can manage chronic illness more effectively is challenging. Residency training programs have no specific mandate to implement DM training. Additional barriers at the training facility include: 1) lack of a population-based perspective for service delivery; 2) weak support for self-management of illness; 3) incomplete implementation due to physician resistance or inertia; and 4) few incentives to change practices and behaviors. In order to overcome these barriers, training programs must take the initiative to implement DM training that addresses each of these issues. We report the implementation of a chronic illness management curriculum based on the Improving Chronic Illness Care (ICIC) Model. Features of this process included both patient care and learner objectives. These were: development of a multidisciplinary diabetes DM team; development of a patient registry; development of diabetes teaching clinics in the family practice center (nutrition, general management classes, and one-on-one teaching); development of a group visit model; and training the residents in the elements of the ICIC Model, ie, the community, the health system, self-management support, delivery system design, decision support, and clinical information systems. Barriers to implementing these curricular changes were: the development of a patient registry; buy-in from faculty, residents, clinic leadership, staff, and patients for the chronic care model; the ability to bill for services and maintain clinical productivity; and support from the health system key stakeholders for sustainability. Unique features of each training site will dictate differences in emphasis and structure; however, the core principles of the ICIC Model in enhancing self-management may be generalized to all sites.     

A Low Pulse Food Intake May Contribute to the Poor Nutritional Status and Low Dietary Intakes of Adolescent Girls in Rural Southern Ethiopia

Poor nutrition in adolescent girls poses critical health risks on future pregnancy and birth outcomes especially in developing countries. Our purpose was to assess nutritional status and dietary intake of rural adolescent girls and determine pulse and food intake patterns associated with poor nutritional status. A cross-sectional community-based study was conducted in a traditional pulse growing region of southern Ethiopia on 188 girls between 15 to 19 years of age, with 70% being from food insecure families. Prevalence of stunting (30.9%) and underweight (13.3%) were associated with low food and nutrient intake. Diets were cereal-based, with both animal source foods and pulses rarely consumed. Improving dietary intakes of female adolescents with nutrient dense foods would ensure better health for themselves and for the next generation.     

The impact of mobility limitations on health outcomes among older adults

The purpose of this study was to stratify an older adult population for subsequent interventions based on functional ability, and to estimate prevalence, characteristics and impact of mobility limitations on health outcomes. In 2016, surveys were sent to a stratified random sample of AARP^® Medicare Supplement insureds; mobility limitations were defined using two screening questions. Responses were stratified to three mobility limitation levels. Multivariate regression models determined characteristics and impact on health outcomes. Among weighted survey respondents (N = 15,989), severe, moderate and no limitation levels were 21.4%, 18.4% and 60.3%, respectively. The strongest predictors of increased limitations included pain and poor health. Individuals with more severe limitations had increased falls, decreased preventive services compliance and increased healthcare utilization and expenditures. Utilizing two screening questions stratified this population to three meaningful mobility limitation levels. Higher levels of mobility limitations were strongly associated with negative health outcomes. Mobility-enhancing interventions could promote successful aging.     

Spirituality,Social Support,and Survival in Hemodialysis Patients

Background and objectives: No studies have evaluated the relationship among spirituality, social support, and survival in patients with ESRD. This study assessed whether spirituality was an independent predictor of survival in dialysis patients with ESRD after controlling for age, diabetes, albumin, and social support.Design, setting, participants, & measurements: A total of 166 patients who had ESRD and were treated with hemodialysis completed questionnaires on psychosocial variables, quality of life, and religious and spiritual beliefs. The religious variables were categorized into three scores on a 0 to 20 scale (low to high levels): Spirituality, religious involvement, and religion as coping. Social support was assessed using the Multidimensional Scale for Perceived Social Support. Analyses were also performed including and excluding patients with HIV infection. Religious variables were categorized on the basis of means, medians, and tertiles.Results: In analyses that used religious variables, only the responses on the spirituality scale split at the mean were associated with survival. The association of other religious variables with survival did not reach significance. Social support correlated with spirituality, religion as coping, and religious involvement measures. Only social support and age were associated with survival when controlling for diabetes, albumin concentration, HIV infection, and spirituality.Conclusions: These data suggest that the effects of spirituality may be mediated by social support. Larger, multicenter, prospective studies that use well-validated tools to measure religiosity and spirituality are needed to determine whether there is an independent association of spirituality variables with survival in patients with ESRD.Relationships between spirituality and mortality have been investigated in medical populations but remain controversial (1–13). Variable associations have been found depending on definitions of spirituality and patient populations studied (1–11). Miller and Thoreson (12) explored nine different hypotheses regarding the relationship among religious beliefs, spirituality, and mortality. The only hypothesis that they found to be supported by persuasive evidence stated that “church/service attendance protects [only] healthy people against death.” Studies supporting a similar link in patients with chronic illnesses have also shown mixed results. Koenig et al. (14) evaluated approximately 4000 elderly patients to determine whether attendance at religious services during a 6-yr period was associated with survival. In adjusted analyses, there was a significantly lower mortality in patients who frequently attended church services.Many researchers have suggested a publication bias, whereby only the studies that indicate a significant relationship are published (13). Most studies cited the need for more research on the relationship between spirituality and mortality before any firm conclusions can be reached. In addition, the health dimensions of lack of belief have not been well explored.There also exists considerable debate on how to operationalize religiosity and spirituality. Whereas the first term often is associated with participation in social institutions and adherence to specific beliefs and practices, the latter is a broader term that typically pertains to life''s vital qualities and an overall broad belief in the immaterial features of life (12). Spirituality relates to transcendent values and relationships and the way people find meaning, purpose, and hope in life and in the midst of suffering (15). A person may be spiritual and not religiously observant or observe rituals without a spiritual focus.Few studies have specifically evaluated the potential association between spirituality and survival in patients with ESRD (16,17). We (18) previously showed that religious and spiritual beliefs are associated with decreased perception of burden of illness, decreased depressive affect, increased perception of social support, and higher satisfaction with life and perception of quality of life in an urban, predominantly black ESRD population. We also found that a “spiritual beliefs scale” correlated with several quality-of-life measures in patients with ESRD (19). Even though many of these psychosocial measures have been shown to be related to survival independently, no study to our knowledge has demonstrated a link between spirituality and survival in this population.We determined whether three variables related to spirituality, religious beliefs, and practices and faith (spirituality, religious involvement, and religion as a coping measure) were independently associated with survival in hemodialysis patients with ESRD. We then assessed the relationship between social support and survival, regardless of whether the spiritual variables were included in analyses. We hypothesized that spiritual variables would be associated with survival in patients with ESRD.     

The degree of kinship and its association with reciprocity and exchange in the relationships of visually impaired older adults

This study draws on an evolutionary model of exchange in relationships to examine the nature of perceived reciprocity in the context of kin and non-kin relationships among a sample of visually impaired older adults (age 63–99). Further, we examined the direct and moderating impact of functional impairment and adaptation to visual impairment on the nature of perceived reciprocity. Results showed that the greater the degree of genetic relatedness the more imbalanced the exchange. It was also found that degree of adaptation to visual impairment moderated the association between genetic relatedness and perceived exchange, such that the greater the degree of genetic relatedness the more people reported they gave rather than received except at very low levels of adaptation, when people received more than they gave the greater the degree of genetic relatedness. Thus, an evolutionary model was supported such that imbalanced exchange was found more with greater degrees of genetic relatedness, but the direction of exchange was different for high versus low levels of adaptation to vision impairment.     

Online Access to Doctors' Notes: Patient Concerns About Privacy

Background

Offering patients online access to medical records, including doctors’ visit notes, holds considerable potential to improve care. However, patients may worry about loss of privacy when accessing personal health information through Internet-based patient portals. The OpenNotes study provided patients at three US health care institutions with online access to their primary care doctors’ notes and then collected survey data about their experiences, including their concerns about privacy before and after participation in the intervention.

Objective

To identify patients’ attitudes toward privacy when given electronic access to their medical records, including visit notes.

Methods

The design used a nested cohort study of patients surveyed at baseline and after a 1-year period during which they were invited to read their visit notes through secure patient portals. Participants consisted of 3874 primary care patients from Beth Israel Deaconess Medical Center (Boston, MA), Geisinger Health System (Danville, PA), and Harborview Medical Center (Seattle, WA) who completed surveys before and after the OpenNotes intervention. The measures were patient-reported levels of concern regarding privacy associated with online access to visit notes.

Results

32.91% of patients (1275/3874 respondents) reported concerns about privacy at baseline versus 36.63% (1419/3874 respondents) post-intervention. Baseline concerns were associated with non-white race/ethnicity and lower confidence in communicating with doctors, but were not associated with choosing to read notes or desire for continued online access post-intervention (nearly all patients with notes available chose to read them and wanted continued access). While the level of concern among most participants did not change during the intervention, 15.54% (602/3874 respondents, excluding participants who responded “don’t know”) reported more concern post-intervention, and 12.73% (493/3874 respondents, excluding participants who responded “don’t know”) reported less concern.

Conclusions

When considering online access to visit notes, approximately one-third of patients had concerns about privacy at baseline and post-intervention. These perceptions did not deter participants from accessing their notes, suggesting that the benefits of online access to medical records may outweigh patients’ perceived risks to privacy.     

Immediate antiviral therapy appears to restrict resting CD4+ cell HIV-1 infection without accelerating the decay of latent infection

HIV type 1 (HIV-1) persists within resting CD4(+) T cells despite antiretroviral therapy (ART). To better understand the kinetics by which resting cell infection (RCI) is established, we developed a mathematical model that accurately predicts (r = 0.65, P = 2.5 × 10(-4)) the initial frequency of RCI measured about 1 year postinfection, based on the time of ART initiation and the dynamic changes in viremia and CD4(+) T cells. In the largest cohort of patients treated during acute seronegative HIV infection (AHI) in whom RCI has been stringently quantified, we found that early ART reduced the generation of latently infected cells. Although RCI declined after the first year of ART in most acutely infected patients, there was a striking absence of decline when initial RCI frequency was less than 0.5 per million. Notably, low-level viremia was observed more frequently as RCI increased. Together these observations suggest that (i) the degree of RCI is directly related to the availability of CD4(+) T cells susceptible to HIV, whether viremia is controlled by the immune response and/or ART; and (ii) that two pools of infected resting CD4(+) T cells exist, namely, less stable cells, observable in patients in whom viremia is not well controlled in early infection, and extremely stable cells that are established despite early ART. These findings reinforce and extend the concept that new approaches will be needed to eradicate HIV infection, and, in particular, highlight the need to target the extremely small but universal, long-lived latent reservoir.     

Bronchodilators in Heart Failure Patients With COPD: Is It Time for a Clinical Trial?

Chronic heart failure (HF) and chronic obstructive pulmonary disease (COPD) commonly coexist, and patients with both diseases fare worse than those with either disease alone. Several factors may contribute to worse outcomes, including an increased burden of care related to greater disease complexity, an overlap of symptoms resulting in misapplication of therapy, and the adverse effects of treatment for one disease on the symptoms and outcomes related to the other. For example, there are conflicting data about the cardiovascular risks of bronchodilators in HF patients who may experience worse outcomes with inhaled beta-2 agonists via arrhythmogenesis, ischemia, and/or attenuation of beta-blocker benefits. In contrast, the long-acting anticholinergic class of bronchodilators has a more reassuring safety profile. Anticholinergic bronchodilators may be the preferred first-line agents for COPD patients with comorbid HF, yet data supporting these recommendations are limited. Therapeutic trials in COPD patients have generally excluded patients with significant HF and vice-versa. This paper reviews bronchodilator therapy in HF and proposes a randomized trial designed to enroll patients with significant COPD and HF to determine the risks and/or benefits of adding a long-acting beta-2 agonist to patients currently taking a long-acting anticholinergic agent.