Learning from the voiceless

This article is concerned with understanding what is at stake in the everyday lives of family members facing Huntington's Disease (HD). The methodological and analytical point of departure is German critical psychology, particularly the category of conduct of everyday life (Holzkamp, 1995; Dreier, 1999). Specifically, I address questions of accessing and understanding the conduct of everyday life of persons facing HD who are not visibly visibly active with respect to this circumstance. The question of access is not merely about getting in touch with persons who are not known to the research, professional and HD communities, but also about the consequences of establishing contact with persons who have not made an entry onto any of these public areanas themselves. The question of understanding is about developing an analysis from a first-person perspective on the personal conduct of everyday life that is not visibly active. The development of such an understanding has broader implications, not just for further research and health care practices, but importantly also for the prevailing moral and ethical demands made on persons living at risk of hereditary diseases.     

Measuring decision-making capacity in cognitively impaired individuals

Cognitive and functional losses are only part of the spectrum of disability experienced by persons with Alzheimer's disease and related dementias. They also experience losses in the ability to make decisions, known as decision-making capacity. Researchers have made substantial progress in developing a model of capacity assessment that rests upon the concept of the 4 decision-making abilities: understanding, appreciation, choice and reasoning. Empirical research has increased our understanding of the effects of late-life cognitive impairment on a person's ability to make decisions. This review examines studies of the capacity to consent to treatment, research and the management of everyday functional abilities. The results illustrate the clinical phenotype of the patient who retains the capacity to consent. They also suggest that measures of capacity can improve how researchers measure the benefits of cognitive enhancements and stage dementia.     

Genetic Testing for Huntington's Disease: How Is the Decision Taken?

Research on genetic decision-making normally constructs the decision as an opportunity for choice. However, minimal research investigates how these decisions are taken and whether those who live with genetic risk perceive the test as an opportunity for choice. Employing semistructured interviews with at-risk persons, this study explored decisions about genetic testing for Huntington's disease (HD)--a fatal genetic disorder. A primary aim was to understand how test decisions were perceived. Qualitative data analysis revealed four decision pathways: (1) no decision to be made, (2) constrained decisions, (3) reevaluating the decision, and (4) indicators of HD. Contrary to the rational, "information-processor" approach to decision making, some test decisions were immediate and automatic. These stories challenged the conventional construction of a genetic-test decision as an opportunity for choice. Participant narratives suggested that this construction may be inadequate, at least for some people who live with genetic risk. Test decisions were sometimes constrained by perceived responsibility to other family members, notably offspring. For others at risk, the test decision was a dynamic process of critical thought and evaluation. Finally, behaviors that could be symptoms of HD were the catalyst for testing.     

A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease

Prior to the implementation of predictive-testing programs for Huntington disease (HD), significant concern was raised concerning the likelihood of catastrophic events (CEs), particularly in those persons receiving an increased-risk result. We have investigated the frequency of CEs-that is, suicide, suicide attempt, and psychiatric hospitalization-after an HD predictive-testing result, through questionnaires sent to predictive-testing centers worldwide. A total of 44 persons (0.97%) in a cohort of 4,527 test participants had a CE: 5 successful suicides, 21 suicide attempts, and 18 hospitalizations for psychiatric reasons. All persons committing suicide had signs of HD, whereas 11 (52.4%) of 21 persons attempting suicide and 8 (44.4%) of 18 who had a psychiatric hospitalization were symptomatic. A total of 11 (84.6%) of 13 asymptomatic persons who experienced a CE during the first year after HD predictive testing received an increased-risk result. Factors associated with an increased risk of a CE included (a) a psychiatric history 相似文献   

Predictive testing for Huntington disease: nonparticipants compared with participants in the Dutch program.

Attitudes toward predictive testing programs, in individuals who choose not to undertake the test (i.e., nonparticipants), may be influenced by fears of an unfavorable result. The reasons not to participate in predictive testing programs for Huntington disease (HD) were studied in members of the Dutch Huntington Association who were at 50% risk. They had completed the same baseline psychological questionnaires as had the participants in the Dutch DNA-testing program. The group of 34 nonparticipants was similar to the tested participants in the Dutch predictive testing program, with respect to average age (31.1 years), male:female ratio (1:2), the frequency of a stable relationship (70%), and level of education (67% had high school education or higher). Testing did not seem to be a realistic option for nonparticipants for improving their quality of life. In comparison with participants, nonparticipants had a significantly more pessimistic outlook on themselves and their futures. When asked to consider the possibility of an unfavorable result, nonparticipants expected more difficulties in their families; more problems for their children, their partners, and themselves; a lowered quality of life; and, more often, a depressive reaction. In their opinion, a favorable result would reduce the problems for their children but not for themselves, a result that was found more often in the nonparticipant than in the participant group. Nonparticipants learned about their being at risk for HD during adolescence (mean age 15.6 years), whereas participants did so in adulthood (mean age 22.7 years). The nonparticipants' attitude toward the test might be explained by the influence of HD in the adolescent's separation-individuation process and personality development. This finding could be relevant for future research and for the discussion about testing minors for delayed-onset disorders.     

Ethnography, art, and death

A problem facing anthropologists, given the centrality of memory and imagination to all social life, is how to access memory and the imaginary when there is no independent access to consciousness. Moreover, the discipline has 'largely failed to distinguish itself' in response to understanding HIV/AIDS ( Annual Review of Anthropology 30 , 2001: 163). In response to these observations I would argue that orthodox approaches are limited and we need to create new forms of collaborative research and representation with regard to understanding experiences of illness. Accordingly this article attempts to bring to life the interior dialogue of persons living with HIV/AIDS through performance by 'mapping' the city of Kampala through its emotions and memories rather than buildings and streets.     

Huntington Disease without CAG Expansion: Phenocopies or Errors in Assignment?

Huntington disease (HD) has been shown to be associated with an expanded CAG repeat within a novel gene on 4p16.3 (IT15). A total of 30 of 1,022 affected persons (2.9% of our cohort) did not have an expanded CAG in the disease range. The reasons for not observing expansion in affected individuals are important for determining the sensitivity of using repeat length both for diagnosis of affected patients and for predictive testing programs and may have biological relevance for the understanding of the molecular mechanism underlying HD. Here we show that the majority (18) of the individuals with normal sized alleles represent misdiagnosis, sample mix-up, or clerical error. The remaining 12 patients represent possible phenocopies for HD. In at least four cases, family studies of these phenocopies excluded 4p16.3 as the region responsible for the phenotype. Mutations in the HD gene that are other than CAG expansion have not been excluded for the remaining eight cases; however, in as many as seven of these persons, retrospective review of these patients' clinical features identified characteristics not typical for HD. This study shows that on rare occasions mutations in other, as-yet-undefined genes can present with a clinical phenotype very similar to that of HD.     

Strategies to improve the evidence base of animal-assisted interventions

Animal-assisted interventions (AAIs) reflect an extraordinary opportunity to improve mental health given the special role that animals (pets) occupy in everyday life and general public receptivity to animals. To enhance the evidence-base for AAIs, four recommendations are discussed: (a) conduct more well-designed studies, including the use of a broader array of methodologies; (b) make explicit “small theories” about precisely why and how human-animal interaction changes health and well-being; (c) increase laboratory-based studies of processes likely to underlie therapeutic applications; and (d) develop a strategic plan to guide AAI research, a means of implementing that plan, and ways of monitoring progress to ensure implementation has had impact on AAI research. There is enormous potential for AAI to overcome many obstacles of more traditional physical and mental health services, but developing that potential depends on establishing a stronger evidence base.     

Selfish altruism,fierce cooperation and the predator*

This paper suggests a new way to think about a famous question: what explains cooperation in nature and in particular in humans? I argue that, for an evolutionary biologist as well as a quantitative social scientist, the triangle of two ‘teammates’ in the presence of a predator (passing and shooting in two-on-one situations) is one of the fundamental conceptual building-blocks for understanding these phenomena because in such a situation the fact that life is packaged in many distinct enclosures (and not in one big monolithic blob) can unfold its comparative advantage. I show how, in the presence of a predator, cooperative equilibria emerge among entirely selfish teammates if we infinitesimally bias the lead player in the selfish direction or assign a computational burden on the predator due to the presence of a teammate. I argue that ‘predators’ are common in the biological jungle but also in everyday human settings. Intuitively, this paper builds on the simple idea – a familiar one to a biologist observing the natural world but perhaps less so to social scientists – that everybody has enemies.     

Photography and Urban Marginality

In recent years several monographs have appeared in Italy, though even more abroad, as a report of ethnographic research into the everyday life practices of marginal urban social groups; all fall under a disciplinary subfield the author calls “Anthropology of urban marginality.” The authors of these works have increasingly been using technologies other than written representation, as for instance the medium of photography. There is a question at the core of this article which could be summed as, Why and how can this medium aid in a better understanding of the phenomena being investigated?     

Epidemiologic studies assessing the role of the Epstein-Barr virus in Hodgkin's disease.

The hypothesis that an infection plays a role in the etiology of Hodgkin''s disease (HD) is suggested by both its clinical and histologic features. Its bimodal age-incidence pattern also suggests an infectious process among younger persons. In economically advantaged populations, the first peak occurs among young adults, while in disadvantaged populations, it occurs among children at a much lower frequency. It appears that the age distribution of HD shadows that of susceptibility to common childhood infections, such as the Epstein-Barr virus (EBV); furthermore, that risk of HD is increased among those susceptible to a relatively late infection, in parallel with infectious mononucleosis (IM), and it has been found that people who have had IM have about three times the expected rate of HD. Serologically, there is a consistent association between EBV and HD. As a group, patients have an altered antibody pattern against EBV which suggests chronic reactivation, both following and preceding diagnosis. This altered pattern is common to all age groups. Severity of infection may alter host control among younger people, while diminished cellular immunity with aging may allow similar reactivation among older persons. Whether the EBV plays a direct role or simply reflects the action of a more primary factor is unknown.     

Proceed with Care: Direct Predictive Testing for Huntington Disease

The cloning of the Huntington disease (HD) gene allows highly accurate predictive testing using direct analysis of the CAG repeat. This new test provides results with almost complete certainty but poses unique counseling issues related to direct testing for an adult-onset disease. These include testing individuals who are at 25% risk, without the need for blood from a 50% at risk relative; the assessment of symptomatic individuals; the need for ongoing counseling despite simplification of laboratory procedures; and counseling of persons from families who represent a new mutation for HD. This paper describes protocols for direct predictive testing for adult and prenatal assessment, on the basis of the experience of the Canadian Collaborative Study on Predictive Testing (CCSPT). Over the past 8 years, we have provided >400 results by using linked markers and, more recently, 416 results by using direct assessment of CAG expansion in the HD gene. The vast majority (86%) of requests for direct predictive testing have been from persons who have not previously received results by using linked markers. Despite the ability to now directly assess for the mutation associated with HD, we still recommend assessment of DNA from an affected relative, as this may significantly enhance the accuracy of information to be provided to the at-risk individual. Distance from a genetics center has previously limited the availability of testing, and therefore we have developed approaches to providing predictive testing in the patient's own community.     

“Doing a Lynndie”: Iconography of a Gesture

In the fall of 2003, Lynndie England gave thumbs-up with one hand and lock-and-load with the other to a group of naked Iraqi detainees at Abu Ghraib prison, when facing a camera. Soon after the Abu Ghraib tortures became public knowledge, and Lynndie England became an iconic “Hillbilly” who tortures for fun, hundreds of people around the world, prompted by a British blog named Bad Gas, took up Lynndie's gesture and transformed it into a humorous everyday practice. This article attempts to illuminate the processes that transform iconic images into embodied commonsense cultural practices by tracing the life of Lynndie's gesture across a varied and complex media landscape. It poses questions about the role that popular media played in providing mainstream discursive frameworks about the Abu Ghraib tortures and about the role of social media in transforming these discourses into humorous practices.     

Validatieonderzoek Welzijnsmeter-dementie

The Well-Being Measure – dementia is a digital observation instrument that assesses the well-being of persons with dementia on four domains of quality of life: Mental well-being, Physical well-being, Participation, and Living arrangements. Its goal is to assess the well-being of persons with dementia in an easy and positive way. Besides illness-related symptoms and problems, the instrument also assesses positive aspects of functioning. It visualizes the results and provides specific behavioural advice to the caregivers. The goal of the present article is to conduct a first psychometric analysis: factor structure, reliability (Cronbach’s alpha), concurrent, and convergent validity.Observations were carried out among 168 persons with dementia in eleven different small-scale psychogeriatric wards. Five existing instruments were used among 63 persons to validate the Well-Being Measure-dementia: quality of life, neuropsychiatric symptoms, care dependency, depression, and agitation.The expected factor structure was found in each of the four domains. Coefficients were high on the expected factor and low on the other factor(s). The scale means were on the positive side, but showed an adequate range and variability. Reliability was satisfactory to good. The relation with existing scales was moderate to strong. The pattern of relations was consistent with the measurement intentions of the different existing instruments.The Well-Being Measure – dementia appears to be a valid and reliable scale. Further studies should assess its test-retest reliability, sensitivity to change and relation with the course of dementia. Current experience shows that the instrument is also useful in everyday practice.     

Signal transduction in cells of the immune system in microgravity

Life on Earth developed in the presence and under the constant influence of gravity. Gravity has been present during the entire evolution, from the first organic molecule to mammals and humans. Modern research revealed clearly that gravity is important, probably indispensable for the function of living systems, from unicellular organisms to men. Thus, gravity research is no more or less a fundamental question about the conditions of life on Earth. Since the first space missions and supported thereafter by a multitude of space and ground-based experiments, it is well known that immune cell function is severely suppressed in microgravity, which renders the cells of the immune system an ideal model organism to investigate the influence of gravity on the cellular and molecular level. Here we review the current knowledge about the question, if and how cellular signal transduction depends on the existence of gravity, with special focus on cells of the immune system. Since immune cell function is fundamental to keep the organism under imnological surveillance during the defence against pathogens, to investigate the effects and possible molecular mechanisms of altered gravity is indispensable for long-term space flights to Earth Moon or Mars. Thus, understanding the impact of gravity on cellular functions on Earth will provide not only important informations about the development of life on Earth, but also for therapeutic and preventive strategies to cope successfully with medical problems during space exploration.     

Justice in international clinical research

Debates about justice in international clinical research problematically conflate two quite different forms of obligation. International research ethics guidelines were intended to describe how to conduct biomedical research in a just manner at the micro or clinical level (within the researcher-participant interaction) but have come to include requirements that are clearly intended to promote justice at the global level. Ethicists have also made a variety of claims regarding what international research should contribute to global justice. This paper argues that the conflation of debates about justice at the micro and macro-levels has not only resulted in the placement of obligations upon the wrong actors but has also served to exclude relevant actors from the ethical picture. Suggestions for who should properly bear macro-level obligations of justice in international clinical research are offered. The paper further contends that, unlike researchers who violate informed consent requirements, no similar type of accountability exists for obligations of global justice, even for those obligation-bearers (incorrectly) identified by current ethics guidelines.     

Intermediary Varieties of Experience

This paper engages in a phenomenologically informed examination of the cultural and personal influences implicated in the constitution of experiences that may shift from subjective to objective, and to intermediate varieties. Drawing from extensive ethnographic research on the island of Yap, Federated States of Micronesia, the paper explores how a cultural phenomenological understanding of intermediary varieties of experience is resonant with aspects of Yapese ethno-epistemology in which material objects are understood as variously invested with subjective entailments, and vice versa. Two examples are used to illustrate the active inter-subjective constitution of such intermediate varieties of experience: the ambiguity of pain as an object of experience and the significance of food in everyday social life.     

Huntington disease--another chapter rewritten.

To those of us who began life when humans had 48 chromosomes and who began working in genetics when the (by then 46) chromosomes had no bands and chromosome 4 could not reliably be distinguished from chromosome 5, the mere ability to diagnose and correlate the clinical phenotypes of genetic disorders with their molecular genotypes is a source of continuing astonishment and pleasure. Indeed, molecular genetic analysis of neurogenetic disorders such as Huntington disease (HD) has provided a steady stream of challenges and surprises to all who believe the genetic principles that they were taught about these disorders. The paper by Rubinsztein et al. in this issue of the journal highlights yet another surprise, which was adumbrated even in the initial paper announcing the discovery of the HD gene: incomplete penetrance of HD gene mutations.     

IMMORTALITY, HUMAN NATURE, THE VALUE OF LIFE AND THE VALUE OF LIFE EXTENSION

The emerging discourse concerning the desirability of intervention in senescence to achieve radical life extension for persons has featured some striking blurring in traditional liberal and conservative commitments and positions. This affords an opportunity for re‐evaluation of these same. The canonical conservative view of the intrinsic value of life is re‐examined and found primarily to involve a denial of human prerogative, rather than an active underwriting of the value of life extension. A critique is offered of an attempted argument against aging intervention from a proto‐conservative worry about a purported threat to human nature. Immortality is found to be a red herring, but a revealing one. Further, the classic liberal view is examined and found wanting in terms of the gravity of its own commitment to, and fullness of its account of the value of life, and the value of life extension. An analysis of the liberal conception of personhood is proposed that both defines persons necessarily as processes, and demonstrates the inalienable quality of the value of life extension to persons so defined.