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41.
Cardiomyopathy is a genetically and clinically heterogeneous, life threatening disease which affects people of all ages. Recent guidelines provide recommendations for cardiac screening and genetic testing in at-risk relatives, but the uptake and impact of these measures in the United States is unknown. This is a single institution retrospective study that characterizes the uptake of cardiac screening and genetic testing for relatives of a cohort of 57 probands with hypertrophic (HCM) and dilated cardiomyopathy (DCM) who underwent both clinical evaluation and genetic testing. Cardiac screening was indicated for 302 relatives. One hundred and seventy-three (57 %) completed cardiac screening. Forty of the 57 probands were mutation positive and genetic testing was indicated for 213 relatives. Eighty-four (39 %) completed genetic testing. The uptake of cardiac surveillance was greater than the uptake of genetic testing (p?<?0.0001) among relatives of mutation positive probands. Within the group of at-risk, asymptomatic relatives of probands, cardiac screening and genetic testing were positive in 25 % and 40 % of cases, respectively. These data demonstrate the important role and utility of cascade cardiac screening and genetic testing in the care of patients and families with HCM or DCM. The approach to cardiac screening and genetic testing should be family-specific and requires expertise in the genetics of cardiomyopathy. 相似文献
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Two hundred undergraduate students participated in a repeated-trials binary choice procedure in which choice of one outcome was correct on 75% of trials. Subjects received 192 trials and were divided into five conditions: (1) control; (2) subjects were given the actual probabilities; (3) subjects were told if they did well they could leave early; (4) competition condition; (5) midway through the task subjects were asked to recommend a strategy for another subject. Half of the subjects in each group were told that the best they could do was to be correct on 75% of the trials. This manipulation permitted assessment of the hypothesis that subjects in probability-matching tasks are seeking a strategy that will be correct on 100% of the trials. The results partially confirmed this hypothesis. In addition, two of the variables improved performance significantly (giving probabilities and asking subjects to recommend a strategy). However, while subjects in all groups improved significantly over trials, optimal choice did not occur in this task. 相似文献
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Young people report frequent worry, but we know little about the extent, character, or consequence of worry in adolescence, or individual differences associated with worry. Adolescents with chronic pain are one population that are known to have high levels of anxiety, which is associated with higher levels of disability and depression, impairing function. In this study we report a diary study: adolescents (N = 60; aged 16–18) recorded their worry over seven days. Our first aim was to describe the characteristics of adolescent worry and its consequences in a community sample. Our second aim was to compare the experience of girls to boys, and to compare the experience of those with and without chronic pain. Adolescents reported characteristics of each worry they had throughout the week, including content, frequency, strength, interference, emotion, and the strength of emotion associated with worry content. Adolescents reported the consequence for each content and the strength of the consequence. Worry content and consequences were categorised into four categories; health, relationship, personal competence, and other. Adolescents reported 675 unique episodes of worry over the seven-day period that were predominantly about personal competence. The strength of worry content was (M = 6.61, SD = 1.27) and the strength associated with the worry consequence was (M = 5.59, SD = 1.41). Worries were not reported as highly interfering (M = 4.14, SD = 1.61). Contrary to predictions, there were no differences in worry characteristics between adolescents with and without chronic pain. To conclude, worry is a frequent occurrence in older adolescents and the characteristics of worry are discussed. Adolescents worry mostly about personal competence. Adolescents with and without chronic pain reported similar worry characteristics. 相似文献
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Owen Ware 《Canadian journal of philosophy》2017,47(1):116-147
It is commonly held that Kant ventured to derive morality from freedom in Groundwork III. It is also believed that he reversed this strategy in the second Critique, attempting to derive freedom from morality instead. In this paper, I set out to challenge these familiar assumptions: Kant’s argument in Groundwork III rests on a moral conception of the intelligible world, one that plays a similar role as the ‘fact of reason’ in the second Critique. Accordingly, I argue, there is no reversal in the proof-structure of Kant’s two works. 相似文献