Offering predictive testing for Huntington disease in a medical genetics clinic: Practical applications

Predictive testing for Huntington disease is presently offered in a select few medical genetics centers in the United States. This is in part due to the labor intensive counseling and psychological testing suggested by the research protocols. We discuss some specific suggestions for establishing programs for Huntington disease predictive testing within pre-existing medical genetics clinics to encourage more centers to offer presymptomatic testing. This will allow more at risk individuals the opportunity to consider predictive testing and cut down the expenses of traveling to the few predictive testing centers that currently exist. The counseling principals will remain similar to those discussed here, even following the identification of the Huntington disease mutation.     

It's just (family) business: The impact of familial work experience on perceived qualification and hireability during the selection process

Though scholars have explored the impact of familial work experience (FWE) posthire, research has yet to determine the role of such experience during the selection process. Drawing from Attribution Theory and research on nepotism and family business dynamics, we suggest that the presence of FWE on an applicant's selection materials will lead to reduced perceptions of qualifications and hireability. Through two online experiments (N₁ = 170, N₂ = 251), we found mixed support for this proposition. In our first study focused on cover letters, we found that applicants who reported FWE were not appraised differently than those who did not. In our second study focused on letters of recommendation, however, we found that applicants who reported FWE were perceived as less qualified and less hireable. Moreover, we found that the level of job (i.e., service vs. managerial) moderates these relations, such that managerial applicants with FWE on their letter of recommendation were perceived as less hireable than those who did not. Implications for research and practice are discussed, and future research directions are offered.     

Evolution of the Colored Eco-Genetic Relationship Map (CEGRM) for Assessing Social Functioning in Women in Hereditary Breast-Ovarian (HBOC) Families

The CEGRM was initially conceived as a simple, concise, visual representation of the social interaction domains of information, tangible services and emotional exchanges (Kenen, R., & Peters, J. (2001). J Genet Counsel, 10, 289–309). A blend of the genetic pedigree, genogram, and ecomap, the CEGRM was developed to facilitate contemporary genetic counseling goals. An exploratory pilot study of 20 subjects showed that it was feasible, comfortable and efficiently accomplished, and that the process was useful both for assessment and as an intervention with study participants (Peters, J. A., Kenen, R., Giusti, R., Loud, J., Weissman, N., & Greene, M. H. (2004). Am J Med Genet Part A, 130A, 258–264). Subsequently, we have extended the CEGRM to 150 women from hereditary breast/ovarian cancer (HBOC) families; three different investigators have successfully administered this tool. The preliminary findings from the exploratory study were confirmed in the larger sample. Engaging in the interactive, insight-promoting CEGRM process provides a novel tool for assessing the social context of genetic testing, and helping high-risk women better understand and integrate genetic information into their personal and family identities, health beliefs, and decisions.     

Probing the human brain with stimulating electrodes: The story of Roberts Bartholow’s (1874) experiment on Mary Rafferty

Roberts Bartholow’s 1874 experiment on Mary Rafferty is widely cited as the first demonstration, by direct application of stimulating electrodes, of the motor excitability of the human cerebral cortex. The many accounts of the experiment, however, leave certain questions and details unexamined or unresolved, especially about Bartholow’s goals, the nature and quality of the evidence, and the experiment’s role in the history of theory and research on localisation of function. In this article, we try to fill these gaps and to tell the full story. We describe Bartholow’s career up to 1874, review the theoretical and empirical background for the experiment, and present Bartholow’s own account of the experiment as well as those of his supporters and critics. We then present our own analysis, assess the experiment’s influence on contemporaneous scientific opinion about cortical excitability, and trace its citation record into our own time. We also review and assess ethical criticisms of Bartholow and their effects on his career, and we close by discussing the role we think the experiment deserves to play in the history of theory and research on cortical excitability.     

A randomized clinical trial of Behavioral Activation (BA) therapy for improving psychological and physical health in dementia caregivers: Results of the Pleasant Events Program (PEP)

Dementia caregiving is associated with elevations in depressive symptoms and increased risk for cardiovascular diseases (CVD). This study evaluated the efficacy of the Pleasant Events Program (PEP), a 6-week Behavioral Activation intervention designed to reduce CVD risk and depressive symptoms in caregivers. One hundred dementia family caregivers were randomized to either the 6-week PEP intervention (N = 49) or a time-equivalent Information-Support (IS) control condition (N = 51). Assessments were completed pre- and post-intervention and at 1-year follow-up. Biological assessments included CVD risk markers Interleukin-6 (IL-6) and D-dimer. Psychosocial outcomes included depressive symptoms, positive affect, and negative affect. Participants receiving the PEP intervention had significantly greater reductions in IL-6 (p = .040), depressive symptoms (p = .039), and negative affect (p = .021) from pre- to post-treatment. For IL-6, clinically significant improvement was observed in 20.0% of PEP participants and 6.5% of IS participants. For depressive symptoms, clinically significant improvement was found for 32.7% of PEP vs 11.8% of IS participants. Group differences in change from baseline to 1-year follow-up were non-significant for all outcomes. The PEP program decreased depression and improved a measure of physiological health in older dementia caregivers. Future research should examine the efficacy of PEP for improving other CVD biomarkers and seek to sustain the intervention's effects.     

Some remarks on a research project of the centre D'Etudes des solidarites sociales (CESOL) integration: A challenge for business

The solidarity of business towards marginalized people can be expressed by insertion projects. Giving a job to someone who really needs it can also be a way of improving one's corporate image at the same time as doing something to solve a serious social problem.     

Motivation to Lead: Research on the Motives for Undertaking Leadership Roles in the Israel Defense Forces (IDF)

Sustained flight operations are likely to produce fatigue and performance decrement in aviators. We assessed changes in cognitive performance using a workhest schedule modeled on successive long-range attack missions. Twelve subjects performed several subtests of the Unified Tri-Service Cognitive Performance Assessment Battery and the Walter Reed Performance Assess- ment Battery 18 times during a simulated sustained operation. The scenario consisted of a 9-hr planning session followed by a 4-hr rest period and a 14-hr daytime mission. After 6 hr of rest, subjects repeated this schedule with a nighttime mission. For two spatial tests, subjects showed linear increases in response rate and one of its components, error rate. Subjects appeared to change strategy as the study progressed, possibly exchanging a higher failure rate for a savings in time. Any tendency to take chances when fatigued may have serious implications for aircrew in sustained operations.     

Countering Perfectionism in Research on Clinical Practice. III: Implications for Randomized Designs of the Presence of Uncontrolled Interactions and Spontaneous Changes

In a crossover study, we took pre-test, post-first-treatment, and post-second-treatment measures of self-expressiveness (assertiveness) and of acute emotional distress while we successively trained different groups of students in assertiveness and group therapy exercises. Our (unfulfilled) expectations were straightforward: We thought that assertiveness training would produce specific improvement in self-expression measures with little impact on overall distress and that group therapy would produce specific improvement in general distress with little impact on assertiveness. Both treatments improved assertiveness and decreased distress. The fact that our treatments had impure effects enhanced the likelihood of Type II statistical errors and compromised the effectiveness of our design. In addition, quite surprisingly, assertiveness training selectively improved the mental health of women students, and group therapy selectively improved the assertiveness of men students more than the alternative treatment did. This interaction between gender and randomly administered experimental treatment procedures raises serious, generally important questions about the logic of statistically controlled experimentation that relies on randomization to eliminate the effects of uncontrolled, but relevant, variables.     

Improving the Rigor of Mechanistic Behavioral Science: The Introduction of the Checklist for Investigating Mechanisms in Behavior-Change Research (CLIMBR)

Diverse fields rely on the development of effective interventions to change human behaviors, such as following prescribed medical regimens, engaging in recommended levels of physical activity, getting vaccinations that promote individual and public health, and getting a healthy amount of sleep. Despite recent advancements in behavioral intervention development and behavior-change science, systematic progress is stalled by the lack of a systematic approach to identifying and targeting mechanisms of action that underlie successful behavior change. Further progress in behavioral intervention science requires that mechanisms be universally prespecified, measurable, and malleable. We developed the CheckList for Investigating Mechanisms in Behavior-change Research (CLIMBR) to guide basic and applied researchers in the planning and reporting of manipulations and interventions relevant to understanding the underlying active ingredients that do—or do not—drive successful change in behavioral outcomes. We report the rationale for creating CLIMBR and detail the processes of its development and refinement based on feedback from behavior-change experts and NIH officials. The final version of CLIMBR is included in full.     

A brief review on the use of functional near-infrared spectroscopy (fNIRS) for language imaging studies in human newborns and adults

Upon stimulation, real time maps of cortical hemodynamic responses can be obtained by non-invasive functional near-infrared spectroscopy (fNIRS) which measures changes in oxygenated and deoxygenated hemoglobin after positioning multiple sources and detectors over the human scalp. The current commercially available transportable fNIRS systems have a time resolution of 1-10 Hz, a depth sensitivity of about 1.5 cm, and a spatial resolution of about 1 cm. The goal of this brief review is to report infants, children and adults fNIRS language studies. Since 1998, 60 studies have been published on cortical activation in the brain’s classic language areas in children/adults as well as newborns using fNIRS instrumentations of different complexity. In addition, the basic principles of fNIRS including features, strengths, advantages, and limitations are summarized in terms that can be understood even by non specialists. Future prospects of fNIRS in the field of language processing imaging are highlighted.     

尊重自主权:如何面对患者的知情不同意——全国10城市4000名住院患者问卷调查研究报告之五

如何面对患者的知情不同意,是医师尊重病人自主权时必须正确对待的问题,也是医师履行职业责任不可回避的事实.通过问卷调查及深入访谈,对目前我国病人及家属知情不同意的现状,知情不同意的类型、原因以及医师面对病人的知情不同意时容易走进的误区,正确处理知情不同意的意义做了分析和讨论,以便为维护患者的利益,减少医惠冲突,完善医师专业精神提供参考依据.     

Introducing the Expectations and Preference Scales for Couple Therapy (EPSCT): Development,Psychometric Evaluation,and Suggested Use in Practice and Research

While it is known that client factors account for the largest proportion of outcome variance across treatment modalities, little is known about how clients’ characteristics affect the process and effectiveness of couple therapy. To further knowledge in this area, we created a brief, practice‐friendly measure, the Expectation and Preference Scales for Couple Therapy (EPSCT). Three self‐report scales assess clients’ Outcome expectations (e.g., I expect our relationship to improve as a result of couple therapy) and role expectations for Self (e.g., I expect to listen to my partner's concerns) and Partner (e.g., I expect my partner to blame me). Three Cognitive‐Behavioral, Emotionally Focused, and Family Systems preference scales use a forced‐choice format to measure the comparative strength of respondents’ preferences for interventions broadly reflective of each approach. A large item pool was developed from relevant literature and clinical experience and refined based on face and content analyses with two panels of experienced couple therapists and researchers. Across four studies with 1,175 participants, the scales’ internal consistency reliabilities were similar and their construct validity was supported with confirmatory factor analyses and significant correlations with several established measures, including expectation measures developed for individual psychotherapy and measures of attitudes toward professional help seeking and valuing personal growth. Across all studies, participants had stronger role expectations for themselves than their partners, although gender effects differed by sample. We discuss how to use the 15‐item EPSCT in clinical practice and in future research as a predictor of couple therapy processes and outcomes.