联合常规细胞遗传学技术、多重巢式聚合酶链反应技术检测120例急性白血病患者遗传学异常

探讨如何提高急性白血病患者染色体／特异融合基因异常的检出率与准确率。联合常规细胞遗传学技术、多重巢式聚合酶链反应技术对120例急性白血病患者进行检测。结果表明：应用常规细胞遗传学检测出82例核型异常,占68．3％,而应用多重巢式聚合酶链反应技术检测出54例融合基因异常,占45％。联合这两种技术,120例急性白血病患者的遗传学异常检出率为：75％（90／120）,其中有65例明确了具体染色体改变或特异性融合基因异常。30例患者经常规细胞遗传学检测出具有t（8;21）（q22;q22）或t（15;17）（q22;q12）,多重巢式聚合酶链反应技术检测出39例患者具有AML1／ETO、PML／RARA或CBFB／MYH11融合基因异常。当存在染色体数目异常,或者不存在19种融合基因之一时多重巢式聚合酶链反应结果为阴性。提示常规细胞遗传学技术联合多重巢式聚合酶链反应技术可以有效地提高急性白血病患者染色体异常／特异性融合基因的检出率。     

The embodied self: thinking psychoanalytically in a time of 'science'

Abstract :  In order to be relevant in our 'scientific' times, it is necessary that we psychoanalysts situate our ideas in thoughtful and respectful relationship to neighbouring disciplines such as genetics, cultural studies, and neuro-anatomy. In this paper I suggest that, although psychoanalysis still continues to have valuable contributions to make to the understanding of human sexual experience and behaviour, in order to make these contributions relevant we must tune in with openness to the challenges posed by the unfolding discoveries in the other disciplines that grapple with the arena of human sexuality.
I will suggest ways in which research on sexual desire and gender identity may be assimilated into psychoanalytic thinking and give some examples of its use in analytic practice.     

Global Aging: Challenges for Community Psychology

Older persons are among the major marginalized, disenfranchised citizens worldwide, yet this group has generally been ignored in the community psychology literature. In this paper, we trace the demographic trends in aging worldwide, and draw the field’s attention to the United Nations Program on Aging, which structures its policy recommendations in terms of concepts that are familiar to community psychologists. A central theme of the paper is that community psychology can have a role in producing the conceptual shifts needed to change societal attitudes now dominated by negative age stereotypes.     

Trajectories and predictors of indirect aggression: results from a nationally representative longitudinal study of Canadian children aged 2-10

The purposes of this study were to model the development of indirect aggression among a nationally representative sample of 1,401 Canadian children aged 4 at T2, 6 at T3, 8 at T4 and 10 at T5, and to examine predictors of trajectory group membership from T1 (age 2) child, familial, and parenting variables. Using a semi-parametric group-based modeling approach, two distinct trajectories were identified: "increasing users" comprising of 35% of the sample and "stable low users" comprising of 65% of the sample. Using logistic regression analyses to distinguish these two groups, we found that for girls, more frequent, increasing use of indirect aggression was associated with prior prosocial and physically aggressive behavior, low SES and low parental social support at age 2. For boys, increasing use of indirect aggression was associated with prior parenting issues at age 2-inconsistency and less positive parent-child interactions. Although this study provides unique information regarding the early development of indirect aggression and its predictors, more longitudinal research is needed to fully understand its development.     

成人学习不良的神经心理与行为遗传研究

介绍了成人学习不良者神经心理与行为遗传方面的研究,深入分析了成人学习不良中阅读不良的电生理和行为遗传特点,并简要总结了有关数学不良的神经心理与行为遗传的相关机制。     

On the heritability of inspection time and its covariance with IQ: a twin study

Using the classical twin design, this study investigates the influence of genetic factors on the large phenotypic variance in inspection time (IT), and whether the well established IT–IQ association can be explained by a common genetic factor. Three hundred ninety pairs of twins (184 monozygotic, MZ; 206 dizygotic, DZ) with a mean age of 16 years participated, and 49 pairs returned approximately 3 months later for retesting. As in many IT studies, the pi figure stimulus was used and IT was estimated from the cumulative normal ogive. IT ranged from 39.4 to 774.1 ms (159±110.1 ms) with faster ITs (by an average of 26.9 ms) found in the retest session from which a reliability of .69 was estimated. Full-scale IQ (FIQ) was assessed by the Multidimensional Aptitude Battery (MAB) and ranged from 79 to 145 (111±13). The phenotypic association between IT and FIQ was confirmed (−.35) and bivariate results showed that a common genetic factor accounted for 36% of the variance in IT and 32% of the variance in FIQ. The maximum likelihood estimate of the genetic correlation was −.63. When performance and verbal IQ (PIQ & VIQ) were analysed with IT, a stronger phenotypic and genetic relationship was found between PIQ and IT than with VIQ. A large part of the IT variance (64%) was accounted for by a unique environmental factor. Further genetic factors were needed to explain the remaining variance in IQ with a small component of unique environmental variance present. The separability of a shared genetic factor influencing IT and IQ from the total genetic variance in IQ suggests that IT affects a specific subcomponent of intelligence rather than a generalised efficiency.     

Germ-line gene therapy and the clinical ethos of medical genetics

Although the ability to perform gene therapy in human germ-line cells is still hypothetical, the rate of progress in molecular and cell biology suggests that it will only be a matter of time before reliable clinical techniques will be within reach. Three sets of arguments are commonly advanced against developing those techniques, respectively pointing to the clinical risks, social dangers and better alternatives. In this paper we analyze those arguments from the perspective of the client-centered ethos that traditionally governs practice in medical genetics. This perspective clarifies the merits of these arguments for geneticists, and suggests useful new directions for the professional discussion of germ-line gene therapy. It suggests, for example, that the much discussed prospect of germ-line therapy in human pre-embryos may always be more problematic for medical genetics than adult germ-line interventions, even though the latter faces greater technical difficulties.     

An educational program to overcome language and cultural barriers to genetic services

Providing genetic services to families who do not speak English and whose cultures are quite diverse presents a unique challenge to genetic specialists. One approach that is being employed successfully is the use of specially trained genetic assistants to provide outreach, case finding, referral, support, interpretation, advocacy, and follow-up counseling. A basic genetic assistant training program for five bicultural/bilingual Southeast Asian case managers is described. The course syllabus can be used to train health workers who represent a variety of cultures and languages.     

Preconceptional family health evaluation: A regional education program for family planning clients and health professionals

The Preconceptional Family Health Evaluation Program was a regional project developed and funded for 2 years by the New England Regional Genetics Group (NERGG) to educate family planning health professionals about genetics, and to offer family planning clients preconceptional identification of genetic and environmental exposure risks. To meet these goals, genetic education was provided on a regional basis to 45 family planning professionals. A self-administered family health risk questionnaire adaptable to individual family planning settings was developed. Five hundred and twenty-nine family planning clients voluntarily completed the questionnaire. Cigarette smoking (35%) and alcohol use (57%) were two major categories of risks identified. The Preconceptional Family Health Evaluation Program was well received by all participants and provided an effective means for regional education of family planning health professionals. As a result of the program, state program planners, clinical genetics services, and family planning health professionals developed a strong relationship that will serve future educational and genetic risk screening efforts.     

Professional preparation of individuals who provide genetic counseling services

An unprecedented increase has occurred in demand for genetic counseling services during the current decade. This study examined the complex issue of who currently provides genetic counseling services and the professional preparation of these personnel. A self-administered questionnaire was mailed to 325 genetic counseling professionals in the southeastern United States who were members of the Southeast Regional Genetics Group (SERGG), National Society of Genetic Counselors, or American Society of Human Genetics States; 204 completed the questionnaire (63%). Seventy percent of respondents were female and 30% were male. Thirty percent of respondents held MD degrees; nine physicians held PhD degrees. Most physicians were male. Thirty-two percent of respondents held master's degrees in genetic counseling; five counselors held PhD degrees. Twenty-three percent of respondents were nurses; eight nurses held master's degrees. Three percent of respondents were social workers. Individuals with other degrees, such as an associate of science in medical technology and a doctoral degree in education, also provided genetic counseling. Genetic counseling typically involved a team effort, consisting mainly of physicians and genetic counselors. Most respondents reported college coursework in human genetics, supervised training, and seminar/workshop training. Thirty percent reported college coursework in counseling techniques, supervised training, and seminar/workshop training. Policy recommendations are offered concerning professional preparation of genetic counselors.