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。     

PTEN、p53和BAG-1在三阴乳腺癌中的表达及意义

为了研究PTEN、p53和BAG-1在三阴乳腺癌中的表达情况及临床病理意义,并讨论三者之间的关系.采用免疫组织化学SP法检测89例三阴乳腺癌中PTEN、p53、BAG-1的表达,其阳性表达率分别为44.9％、47.2％、73.0％,三者的表达均与患者的病理组织学分级、淋巴结转移情况有关(P＜0.05).PTEN的表达与p53、BAG-1表达呈负相关;BAG-1与p53的表达呈正相关,提示三者在三阴乳腺癌中的表达存在一定关联性,临床上联合检测三者可能为TNBC预后评估、患者的个体化治疗提供一定的参考.     

BE CAREFUL WHAT YOU WISH FOR! THE SURRENDER OF GENDER

Close examination of Freud's Three Essays on the Theory of Sexuality (1905a) reveals an ambiguity in Freud's language as he simultaneously tries to escape 19th‐century psychiatric paradigms concerning sexuality and perversion while also retaining a normative approach to adult sexuality that created new categories of pathology. The result is an ambivalent legacy that has both hampered and helped contemporary clinicians as they deal with a diverse array of presentations of gender and sexual orientation in today's world.     

“莱昂假说”与克隆性分析技术的思想启迪

克隆性分析技术已经很大程度上影响和改变着人们对肿瘤的思维。“莱昂假说”的创立、印证以及克隆性分析技术的发展、应用,已经使我们重新认识了许多肿瘤和肿瘤前期病变的性质。其间的研究工作启示我们,科学需要源于事实基础的大胆猜测,更需要有求异性思维,敢于突破、善于联想根源于深厚的知识沉淀。     

Continuation of Pregnancy Following the Diagnosis of a Fetal Sex Chromosome Abnormality: A Study of Parents' Counseling Needs and Experiences

Parents who decide to continue a pregnancy diagnosed with a sex chromosome abnormality (SCA) experience a variety of emotions as they deal with complex medical and genetic information. To better understand these individuals' psychosocial, educational, and support needs, 26 parents who received prenatal diagnosis of an SCA after 1989 and who had decided to continue their pregnancy were interviewed by telephone. Twenty (77%) reported they initially had a poor understanding of the predicted syndrome. All parents later met with a genetics professional. Twenty-two (92%) parents considered sterility and underdevelopment of secondary sexual characteristics to be the most negative aspects of SCAs. Contact with other parents of children with SCAs and with support organizations were generally viewed as helpful experiences. Insight gained from this study should be useful for genetic counselors and other health care providers involved with patients who have received abnormal prenatal diagnosis results.     

Schizotypy: An Organizing Framework for Schizophrenia Research

ABSTRACT— Schizophrenia is the most devastating form of psychopathology known to humankind, and it has been slow to yield clues to its origins. Meehl's (1962, 1990) model detailed the nature of the latent liability for schizophrenia known as schizotypy and provided a major organizing function for research on schizophrenia. The schizotypy model integrates genetic and environmental contributions to liability as well as accounting for a range of clinical outcomes, all deriving from a genuine liability for the illness. Schizotypy, as a latent personality organization that harbors the liability for schizophrenia, provides a framework for detecting fundamental features of liability to schizophrenia prior to the onset of clinical illness. The schizotypy model is reviewed, the strategic benefits of it are discussed, and methods for detecting schizotypy are presented. A focus on perceptual aberrations—a schizotypic feature—in individuals unaffected by schizophrenia has yielded valuable clues to preclinical disturbances in neurocognitive processes, risk for schizophrenia among biological relatives, and genomic substrates, all of which are of interest to schizophrenia researchers.     

The effect of early life stress on the cognitive phenotype of children with an extra X chromosome (47,XXY/47,XXX)

Studies on gene–environment interactions suggest that some individuals may be more susceptible to life adversities than others due to their genetic profile. This study assesses whether or not children with an extra X chromosome are more vulnerable to the negative impact of early life stress on cognitive functioning than typically-developing children.

A total of 50 children with an extra X chromosome and 103 non-clinical controls aged 9 to 18 years participated in the study. Cognitive functioning in domains of language, social cognition and executive functioning were assessed. Early life stress was measured with the Questionnaire of Life Events. High levels of early life stress were found to be associated with compromised executive functioning in the areas of mental flexibility and inhibitory control, irrespective of group membership. In contrast, the children with an extra X chromosome were found to be disproportionally vulnerable to deficits in social cognition on top of executive dysfunction, as compared to typically-developing children. Within the extra X group the number of negative life events is significantly correlated with more problems in inhibition, mental flexibility and social cognition. It is concluded that children with an extra X chromosome are vulnerable to adverse life events, with social cognition being particularly impacted in addition to the negative effects on executive functioning. The findings that developmental outcome is codependent on early environmental factors in genetically vulnerable children also underscores opportunities for training and support to positively influence the course of development.     

PTEN、p53和BAG-1在三阴乳腺癌中的表达及意义

为了研究PTEN、p53和BAG-1在三阴乳腺癌中的表达情况及临床病理意义,并讨论三者之间的关系.采用免疫组织化学SP法检测89例三阴乳腺癌中PTEN、p53、BAG-1的表达,其阳性表达率分别为44.9％、47.2％、73.0％,三者的表达均与患者的病理组织学分级、淋巴结转移情况有关（P＜0.05）.PTEN的表达与p53、BAG-1表达呈负相关;BAG-1与p53的表达呈正相关,提示三者在三阴乳腺癌中的表达存在一定关联性,临床上联合检测三者可能为TNBC预后评估、患者的个体化治疗提供一定的参考.     

Studies on wild house mice VI: Differential effects of the Y chromosome on intermale aggression

The aim of this study is to determine the effects of different parts of the Y chromosome of wild house mice on aggression. To reach this goal, intercrosses were made between two selection lines for attack latency (SAL and LAL) and their congenic strains (SAL. LY and LAL. SY). This procedure resulted in F₁ hybrids that carried the same autosomes, but differed in their X chromosome and the two different parts of their Y chromosomes, the different parts of the Y chromosome being a recombining part called the pseudoautosomal region (PAR) and a non-recombining part (non-PAR). We conclude that both parts of the Y chromosome contribute slightly but significantly to variation in aggression. The major effect is accomplished by the PAR of the aggressive parent; a mirror effect is achieved by the non-PAR of the aggressive parent in interaction with the PAR. © 1994 Wiley-Liss, Inc.