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51.
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
52.
Claes E Evers-Kiebooms G Denayer L Decruyenaere M Boogaerts A Philippe K Legius E 《Journal of genetic counseling》2005,14(5):349-363
This prospective study evaluates emotional functioning and illness representations in 68 unaffected women (34 carriers/34
noncarriers) 1 year after predictive testing for BRCA1/2 mutations when offered within a multidisciplinary approach. Carriers had higher subjective risk perception of breast cancer
than noncarriers. Carriers who did not have prophylactic oophorectomy had the highest risk perception of ovarian cancer. No
differences were found between carriers and noncarriers regarding perceived seriousness and perceived control of breast and
ovarian cancer. Mean levels of distress were within normal ranges. Only few women showed an overall pattern of clinically
elevated distress. Cancer-specific distress and state-anxiety significantly decreased in noncarriers from pre- to posttest
while general distress remained about the same. There were no significant changes in distress in the group of carriers except
for ovarian cancer distress which significantly decreased from pre- to posttest. Our study did not reveal adverse effects
of predictive testing when offered in the context of a multidisciplinary approach. 相似文献
53.
One measure of the impact of genetic counseling and testing (GCT) is the extent to which it fosters behavioral change that is consistent with mutation status. We describe and illustrate how two different signal detection methods, receiver operating characteristic (ROC) analysis and recursive partitioning, can be used in this context to evaluate the impact of GCT. We analyzed real screening behavior data obtained in the 12 months following GCT for Hereditary Nonpolyposis Colon Cancer (HNPCC) using these two different signal detection approaches. Each approach demonstrated that GCT had an impact on behavioral outcomes, and was effective in fostering behavioral outcomes appropriate to mutation status. The ROC approach demonstrated that GCT was effective because mutation positive and mutation negative individuals could be distinguished on the basis of the number of recommended screening behaviors. The recursive partitioning approach demonstrated that GCT was effective because there were generally high rates of adherence to screening guidelines among subjects. The recursive partitioning technique also identified four subgroups of subjects, each with distinct characteristics, for which tailored interventions could be developed to increase rates of adherence to screening guidelines. Signal detection methods are easily implemented and are useful techniques for evaluating the impact of GCT. 相似文献
54.
Predicting traumatic stress using emotional intelligence 总被引:5,自引:0,他引:5
The study investigated whether emotional intelligence (EI) can predict how individuals respond to traumatic experiences. A random sample of 414 participants (181 male, 233 female) were administered a measure of EI along with the Impact of Event Scale--revised [IES-R; Weiss, D. S. & Marmar, C. R. (1997). The Impact of Events Scale--revised. In J.P. Wilson & T.M. Keane (Eds.), Assessing psychological trauma and PTSD (pp. 399-411). New York: Guilford Press], and the monitoring and blunting questionnaire [MBQ, Anxiety Stress Coping 7 (1994) 53]. The results showed that participants with higher NEIS scores report fewer psychological symptoms relating to their traumatic experiences, that monitors are more likely to have higher NEIS scores than blunters. Traumatic events had a greater impact on females than males, and males had higher EI than females. The implications of these findings for using EI as a predictor for individuals who may experience traumatic stress are discussed. 相似文献
55.
Wim?J.?van der?LindenEmail author Edith?M.?L.?A.?van?Krimpen-Stoop 《Psychometrika》2003,68(2):251-265
A lognormal model for response times is used to check response times for aberrances in examinee behavior on computerized adaptive tests. Both classical procedures and Bayesian posterior predictive checks are presented. For a fixed examinee, responses and response times are independent; checks based on response times offer thus information independent of the results of checks on response patterns. Empirical examples of the use of classical and Bayesian checks for detecting two different types of aberrances in response times are presented. The detection rates for the Bayesian checks outperformed those for the classical checks, but at the cost of higher false-alarm rates. A guideline for the choice between the two types of checks is offered.This study received funding from the Law School Admission Council (LSAC). The opinions and conclusions contained in this paper are those of the authors and do not necessarily reflect the policy and position of LSAC. The authors are most indebted to Wim M. M. Tielen for his computational assistance and to the US Defense Manpower Data Center for the permission to use the ASVAB data set in the empirical examples. 相似文献
56.
Ross LF 《Theoretical medicine and bioethics》2003,24(2):177-197
There are approximately one million cases oftype 1 diabetes in the US, and the incidenceis increasing worldwide. Given that two-thirdsof cases present in childhood, it is criticalthat prediction and prevention research involvechildren. In this article, I examine whethercurrent research methodologies conform to theethical guidelines enumerated by the NationalCommission for the Protection of Human Subjectsof Biomedical and Behavioral Research, andadopted into the federal regulations thatprotect research subjects. I then offer twopolicy recommendations to help researchersdesign studies that conform to these ethicalrequirements. 相似文献
57.
In a previous study, Kuroshima and colleagues demonstrated that capuchin monkeys (Cebus apella) learned to discriminate between a "knower" who inspected a box for food, and a "guesser" who did not. The aim of the present study was to specify whether the subjects learned a simple conditional discrimination or a causal relationship that seeing leads to knowing. In experiment 1, we introduced five types of novel containers to two subjects. Each container was of different shape and color. The subjects gradually learned to reach toward the container the knower suggested. In experiment 2, we diversified the behavior of the knower and the guesser. In experiment 3, in order to eliminate the possibility of discrimination based on differences in the magnitude and the complexity of two trainers, we equated their behaviors. One subject adapted to the novel behaviors of the knower and the guesser, successfully discriminating the two trainers. Thus this monkey clearly learned to use the inspecting action of the knower and the non-inspecting action of the guesser as a discriminative cue to recognize the baited container. This result suggests that one capuchin monkey learned to recognize the relationship between seeing and knowing. 相似文献
58.
David B. Suits 《Argumentation》1999,13(2):127-138
In recent philosophical debates a number of arguments have been used which have so much in common that it is useful to study them as having a similar structure. Many arguments – Searle's Chinese Room, for example – make use of thought experiments in which we are told a story or given a narrative context such that we feel we are in comfortable surroundings. A new notion is then introduced which clashes with our ordinary habits and associations. As a result, we do not bother to investigate seriously the new notion any further. I call such an arrangement, which is perhaps a variation of the fallacy of presumption, a Steep Cliff argument. One remedy for the misdirection of a Steep Cliff argument is to tell a counterstory from the point of view of the rejected notion. 相似文献
59.
James E. Wanek 《International Journal of Selection & Assessment》1999,7(4):183-195
This selective review of integrity and honesty testing addresses two primary questions: ‘What do we know about honesty testing?’ and ‘How do we use what we know?’ Up-to-date information about test reliability, validity, and construct definition from recent reviews of the research literature in the USA is presented and interpreted. Relationships to other selection devices and personality measures are discussed, as well as how integrity tests fit into a multiple assessment selection system. 相似文献
60.