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81.
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
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Learning directions of objects specified by vision,spatial audition,or auditory spatial language
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Klatzky RL Lippa Y Loomis JM Golledge RG 《Learning & memory (Cold Spring Harbor, N.Y.)》2002,9(6):364-367
The modality by which object azimuths (directions) are presented affects learning of multiple locations. In Experiment 1, participants learned sets of three and five object azimuths specified by a visual virtual environment, spatial audition (3D sound), or auditory spatial language. Five azimuths were learned faster when specified by spatial modalities (vision, audition) than by language. Experiment 2 equated the modalities for proprioceptive cues and eliminated spatial cues unique to vision (optic flow) and audition (differential binaural signals). There remained a learning disadvantage for spatial language. We attribute this result to the cost of indirect processing from words to spatial representations. 相似文献
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Jack C. Carloye 《Philosophical Studies》1977,32(3):283-292
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Crystallization of desire and crystallization of discontent in narratives of life-changing decisions
Two studies of adults examined personal narratives of life-changing decisions in relation to personality and well-being. Participants whose decision narratives emphasized a crystallization of desire (i.e., approaching a desired future) rather than a crystallization of discontent (i.e., escaping an undesired past; Baumeister, 1991, 1994) reported higher well-being, fewer avoidance strivings, lower Neuroticism (in Study 1 only), and better decision outcomes (in Study 2). However, neither strivings, traits, nor outcomes accounted for the relationship between crystallization of desire and well-being. The discussion considers the roles of life-changing decisions and personal narratives in research on personality, well-being, and positive personal development. 相似文献
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Evaluating Genetic Counseling: Client Expectations,Psychological Adjustment and Satisfaction with Service 总被引:1,自引:0,他引:1
Periodic evaluations of genetic counseling services are useful for determining the effectiveness of counseling in meetings its psycho-educational aims, as well as identifying where improvements to the service may be made. This study aimed to evaluate the genetic counseling services provided by Genetic Services of Western Australia (GSWA) to determine the impact of counseling on client expectations, satisfaction with the service, and psychological adjustment, defined as wellbeing and perceived personal control (PPC). A total of 122 clients participated in a self-administered survey conducted pre- and post-counseling. Client expectations of the service as a means of providing information were met, and opportunities for counselors to meet client’s expectations of psychological support were identified. Furthermore, counseling was found to maintain and enhance psychological wellbeing of clients. The role of counseling in facilitating the development of PPC was a key contributor to a high sense of satisfaction in clients. 相似文献
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