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51.
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors 总被引:3,自引:0,他引:3
Bennett RL Hart KA O'Rourke E Barranger JA Johnson J MacDermot KD Pastores GM Steiner RD Thadhani R 《Journal of genetic counseling》2002,11(2):121-146
The objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected or confirmed diagnosis of Fabry disease, with a family history of Fabry disease, and those identified as female carriers of Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as an individual with Fabry disease who is a founder of a Fabry disease patient advocacy group in the United States. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing and interpretation of results, psychosocial considerations, and references for professional and patient resources. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations. 相似文献
52.
Virbalis R 《Science and engineering ethics》2002,8(3):349-352
The current legal framework within the Lithuanian health system is described including a review of the physician’s autonomy,
rights and duties, and patients’ rights including the right to reimbursement. The role of ethical codes and the law are discussed.
An earlier version of this paper was presented at an International Conference on “Conflict of Interest and its Significance
in Science and Medicine” held in Warsaw, Poland on 5–6 April, 2002. 相似文献
53.
Relations between adult anxiety and mood disorders and retrospective reports of excessive childhood shyness were investigated in the US National Comorbidity, Survey (n=5877). Results indicated that 26% of women and 19% of men described themselves as 'very shy' when they were growing up. Of these shy individuals, 53% of women and 40% of men met criteria for a lifetime diagnosis of one or more anxiety or mood disorders. Relations between excessive shyness and each of the anxiety and mood disorders were examined after adjusting for elevated neuroticism, self-criticism, and low maternal care. The largest odds ratios were found for social phobia in both men and women, particularly for the complex subtype of this disorder. Significant associations also emerged for posttraumatic stress disorder in women and for major depressive disorder in men. Childhood shyness remained significantly associated with a lifetime history of social phobia when individuals with current (past year) social phobia were excluded from the analysis. The results of this study suggest that childhood shyness is strongly related to the complex subtype of social phobia in the general population. Excessive shyness does not appear to be strongly associated with other anxiety and mood disorders when related psychosocial and developmental dimensions are statistically controlled. Finally, many individuals who report excessive childhood shyness do not meet criteria for any anxiety or mood disorder. In a similar fashion, approximately 50% of individuals with a lifetime history of complex social phobia did not view themselves as very shy when growing up. 相似文献
54.
McConkie-Rosell A Finucane B Cronister A Abrams L Bennett RL Pettersen BJ 《Journal of genetic counseling》2005,14(4):249-270
These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families
with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published
in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a
continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular
genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated
tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning
options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions
of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are
based on clinical experience, review of pertinent English language articles, and reports of expert committees. These recommendations
should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular
outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case,
will always supersede these recommendations. 相似文献
55.
Bates BR 《Journal of genetic counseling》2005,14(6):423-434
Critics of genetic discourse are concerned that deterministic and discriminatory views of genetics are increasingly becoming
adopted. These views argue that current genetic discourse becomes a source of power whereby powerful institutions harm people
with so-called “bad” genes. This essay argues that current analyses of the power of genetics discourse are grounded in an
improper reading that disempowers patients. Deploying Michel Foucault's concept “care of the self,” this essay claims that
genetics discourse is better understood as a way that patients take on power through rhetoric rather than a force that has
power over patients. Through a close reading of the “My Family Health Portrait” program, this paper argues that patients experience
a process of “subjection” wherein they become agents of and objects of genetics discourse both. This alternative mode of analyzing
the power of genetics discourse has implications for our collective understanding of the operations of the care of the self
and the uses of genetic information that we propose. 相似文献
56.
Hostility and facial affect recognition: effects of a cold pressor stressor on accuracy and cardiovascular reactivity 总被引:2,自引:0,他引:2
The effects of hostility and a cold pressor stressor on the accuracy of facial affect perception were examined in the present experiment. A mechanism whereby physiological arousal level is mediated by systems which also mediate accuracy of an individual’s interpretation of affective cues is described. Right-handed participants were classified as high hostile (N=28) or low hostile (N=28) using the Cook Medley Hostility Scale. The high-hostile group met joint selection criteria. Only high-hostile participants who showed cardiovascular reactivity to the cold pressor, with systolic BP change exceeding the group mean were included. Groups were further subdivided into cold pressor and non-cold pressor test conditions. It was predicted that high-hostile men, relative to low-hostile men, would show decreased perceptual accuracy when presented with happy, angry, and neutral facial configurations within the left visual field (LVF). Results indicated that high-hostile men were less accurate than low-hostile men in the LVF. Further, pre-stress accuracy scores in the high-hostile men were similar to the post-stress accuracy scores of the low-hostile men. The lateralization of affective function and the role of physiological arousal in affective facial perception are discussed. 相似文献
57.
Three hundred participants, including volunteers from an obsessional support group, filled in questionnaires relating to disgust sensitivity, health anxiety, anxiety, fear of death, fear of contamination and obsessionality as part of an investigation into the involvement of disgust sensitivity in types of obsessions. Overall, the data supported the hypothesis that a relationship does exist between disgust sensitivity and the targeted variables. A significant predictive relationship was found between disgust sensitivity and total scores on the obsessive compulsive inventory (OCI; Psychological Assessment 10 (1998) 206) for both frequency and distress of symptomatology. Disgust sensitivity scores were significantly related to health anxiety scores and general anxiety scores and to all the obsessional subscales, with the exception of hoarding. Additionally, multiple regression analyses revealed that disgust sensitivity may be more specifically related to washing compulsions: frequency of washing behaviour was best predicted by disgust sensitivity scores. Washing distress scores were best predicted by health anxiety scores, though disgust sensitivity entered in the second model. It is suggested that further research on the relationship between disgust sensitivity and obsessionality could be helpful in refining the theoretical understanding of obsessions. 相似文献
58.
Studies using identical measures have identified different levels of depression in different countries or cultures. Until now, however, explanations for such differences, other than methodological ones, have not been empirically addressed. It was hypothesized and found that soft or feminine nations in which both women and men are offered equal opportunities for the fulfillment of multiple social roles that are associated with good self-rated health would score significantly lower on national depression levels than tough or masculine societies in which such opportunities exist to a clearly lesser extent. Analyses of data collected in 14 nations in Europe (total N>5000) demonstrated that higher scores on Hofstede's national masculinity index and lower ones on national wealth were independent predictors of higher national depression levels. National trait neuroticism did not mediate the relationship between national masculinity and national depression levels. 相似文献
59.
Revisiting Group Attachment: Ethnic and National Identity 总被引:1,自引:0,他引:1
Thomas C. Davis 《Political psychology》1999,20(1):25-47
The study of ethnic and national identity, owing to the complex interaction between individuals, groups, and systems, has not remained confined to traditional disciplinary boundaries. In particular, a branch of social-psychological research has provided insight into the most fundamental aspect of this phenomenon, subjective bonds between individuals and groups. Here, data derived from a Q-methodological study of Basque national identity are used to show that claims advanced within the existing literature appear to be restricted in their ability to explain subjective attachment to the nation; that is, they cannot adequately account for the types of bonds that emerged from the Basque case study. Primarily through Q methodology, an alternative explanation and method for uncovering the ties between individuals and groups is offered. In the place of previously vague and restrictive a priori categories of collective attachment, Q is shown to offer a means by which to explore the subjective nature of ethnic and national identification. 相似文献
60.
卫生资源优化配置的伦理要求 总被引:2,自引:0,他引:2
蒋广根 《医学与哲学(人文社会医学版)》1999,20(8):12-13
卫生资源是稀缺资源,卫生资源只有优化配置,才能达到我们的医学目的。卫生资源的优化配置的以公平为优先,坚持公平和效率相结合的原则。就目前所存在的和我们的医学目的不相适应的卫生资源配置方式的现状和主要问题进行分析,并提出了相应的改进方法。 相似文献