Diagnostic tests are available to detect several mutations related to adult-onset, autosomal dominant, neurodegenerative diseases.
We aimed to describe our experience in a presymptomatic testing program run by the Brazilian Public Health System from 1999
to 2009. A total of 184 individuals were eligible for presymptomatic testing due to a risk for spinocerebellar ataxia (SCA)
- SCA3 (80%), Huntington’s disease (11.9%), familial amyloidotic neuropathy (4.3%), SCA1, SCA2, SCA6, or SCA7. Most were women
(70%), married (54%), and had children prior to presymptomatic testing (67%). Their mean age at entrance was 34 (SD = 11 years).
Educational level was above the average Brazilian standard. After receipt of genetic counseling, 100 individuals (54%) decided
to undergo testing; of these, 51 were carriers. Since no individual returned for post-test psychological evaluation, we conducted
a subsequent survey, unrelated to test disclosures. We contacted 57 individuals of whom 31 agreed to participate (24 had been
tested, 7 had not). Several ascertainment concerns relating to these numerous losses prevented us from generalizing our results
from this second survey. We concluded that: decision-making regarding presymptomatic testing seems to be genuinely autonomous,
since after genetic counseling half the individuals who asked for presymptomatic testing decided in favor and half decided
against it; general characteristics of Brazilians who sought presymptomatic testing were similar to many European samples
studied previously; and individuals at risk for SCA3 may be at greater risk of depression. Although no clear-cut reason emerged
for rejection of follow-up psychological sessions after presymptomatic testing, this finding suggests adjustments to our presymptomatic
testing program are necessary. 相似文献
In the present paper, we describe a method for recording the coordinates of a fish in an aquarium in a three-dimensional space, using a single video camera and a mirror. We use photogrammetic equations for this, considering the image obtained in the mirror as a virtual image obtained by a second camera. A transformation of the coordinate system is required to express the obtained coordinates in anx,y,z system defined by the edges of the aquarium. The accuracy of the proposed method was estimated, and errors in extreme conditions were found to be 0.8% to 1.2 %, compared with the dimensions of the aquarium used in the test. 相似文献
Although interest development is often conceptualized as a process that occurs within an individual, interest can be developed through various social mechanisms. Messages that suggest that one is or is not welcome within a context may serve to bolster or attenuate interest in those contexts. In a sample of first semester freshmen undergraduate science students, we tested whether or not talking with close others about one’s interests, and receiving social recognition during those conversations, was related to having a greater science career interest over time. Our findings suggest that the way in which students perceive others’ reactions to their scientific interests (social recognition) during these conversations may have the greatest impact on students that face greater external barriers to persisting. We found that positive social recognition appraisals that convey that a listener understands and encourages one’s interest in science predicted a greater science career interest over time for women, but not men. The impact of positive social recognition appraisals on interest in a science career was greatest among women with relatively low or average science identities, but not for women with a relatively high science identity. The implications for the development of students’ interest and for broadening participation in science are discussed.
The objective of this article was to identify factors in the organizational context that may influence the inclusion of people with disabilities at work. To this end, we conducted three investigations in Brazil. The first study was conducted with 120 managers from 11 organizations and aimed to verify whether actions to adjust both working conditions and work practices affect the perception of managers about the performance of people with disabilities, considering the heterogeneity of disabilities. The second study included 75 people with disabilities and aimed to verify whether job satisfaction with contextual factors, for example, salary, the possibility of skill development, integration, and growth opportunity could explain the affective commitment of these people toward the organizations. The third study, which investigated 169 people with disabilities, included other contextual factors such as social and organizational support to verify if they would affect the meaning these workers assign to their work. The results of Study 1 indicated that types of disabilities are effectively perceived in different ways by the managers and require differentiated actions. From the perspective of the workers with disabilities (Study 2), there is evidence that job satisfaction is related to affective commitment. In addition, it appears that social and organizational support factors (Study 3) are directly related to the perception of fairness, participation, and the reception of these people. Results and theoretical and practical implications will be discussed. 相似文献
In none of the deception studies that used drawings to date, was the effect of sketching on both speech content and drawing content examined, making it unclear what the full potential is of the use of drawings as a lie detection tool. A total of 122 truth tellers and liars took part in the study who did or did not sketch while narrating their allegedly experienced event. We formulated hypotheses about the total amount of information and number of complications reported and about various features of the drawings. Participants in the Sketch-present condition provided more information than participants in the Sketch-absent condition, and truth tellers reported more details than liars, but only in the Sketch-present condition. In contrast to previous research, no Veracity differences occurred regarding the content of the drawings, perhaps because sketching was introduced as a tool that facilitated verbal recall and not as a stand-alone tool. 相似文献
High cognitive effort has been frequently related to better indices of motor learning through the study of many different paradigms. However, automaticity presumably invokes minimal cognitive processing but has often been related to high-level motor performance, which suggests a paradox. The objective of this study was to approach this paradox by examining the viability of the use of different cognitive strategies during practice and performance which promote the benefits of high cognitive effort and automaticity. Members of the university community (14 men and 15 women) divided into 3 groups practiced a discrete precision task. All participants completed four sessions totaling 320 trials and were tested on retention and transfer seven days later. Findings suggest that it is indeed possible to benefit from both effortful and minimal cognitive processing strategies and that they should be used complementarily. 相似文献
Religious beliefs have had a key role in shaping local responses to HIV and AIDS. As the world's largest Catholic country, Brazil is no exception. Yet little research has been conducted to document how religious doctrine is enacted in practice among its lay leaders and followers. In this article, we present ethnographic research from Recife, Brazil, conducted to understand the way in which religious doctrines are interpreted at a local level. Contextualised within the sociology of contemporary Brazilian Catholicism, we draw on interviews with clergy members, lay leaders, and parishioners to discuss how the Catholic Church's vision of sexuality translates into everyday lives of its followers. We explore the disjuncture between the Catholic ideals of fidelity and delaying sex until marriage with the everyday reality of the Church's followers, highlighting the role that gender plays in defining sexual roles and expectations. We conclude by posing questions for future research and HIV prevention strategies considering the formal institutional response of the Brazilian Catholic Church to AIDS on the one hand, and the social and cultural contexts in which Catholics live their daily lives on the other. 相似文献