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。     

肿瘤标记物在大肠癌临床诊治中的应用进展

总结肿瘤标记物在大肠癌临床诊治中的应用进展。对有关大肠癌临床诊治中肿瘤标记物的文献进行综述,重点讨论血清、基因和急性期蛋白三类标记肿瘤物对大肠癌临床诊治方面的价值和潜力。结果是恰当选择肿瘤标记物有助于大肠癌临床诊治。目前,基因和急性期蛋白为大肠癌肿瘤标记物探索的新方向,有望成为提高大肠癌诊治效率的新检查方法。三类肿瘤标记物对大肠癌诊治有临床意义,联合检测可提高大肠癌诊治的准确性和有效性。     

代谢性炎症与代谢综合征

机体对营养物质和病原体在长期的进化过程中形成相同的感应系统。病原体的入侵和营养物质的过剩均可造成免疫系统活化,从而发生代谢性炎症,继而出现代谢综合征,使得以糖尿病为代表的代谢性疾病发病日益增多。代谢性炎症是代谢和免疫相互作用的交叉点,因此阻断代谢性炎症对于预防和控制代谢性疾病具有重要意义。     

Executive functions in children with Autism Spectrum Disorders

Executive dysfunction is a characteristic impairment of individuals with Autism Spectrum Disorders (ASD). However whether such deficits are related to autism per se, or to associated intellectual disability is unclear. This paper examines executive functions in a group of children with ASD (N = 54, all IQ?70) in relation to a typically developing control group individually matched on the basis of age, gender, IQ and vocabulary. Significant impairments in the inhibition of prepotent responses (Stroop, Junior Hayling Test) and planning (Tower of London) were reported for children with ASD, with preserved performance for mental flexibility (Wisconsin Card Sorting Task) and generativity (Verbal Fluency). Atypical age-related patterns of performance were reported on tasks tapping response inhibition and self-monitoring for children with ASD compared to controls. The disparity between these and previous research findings are discussed. A multidimensional notion of executive functions is proposed, with difficulties in planning, the inhibition of prepotent responses and self-monitoring reflecting characteristic features of ASD that are independent of IQ and verbal ability, and relatively stable across the childhood years.     

Visual pathway deficit in female fragile X premutation carriers: a potential endophenotype

Previous studies indicated impaired magnocellular (M) and relatively spared parvocellular (P) visual pathway functioning in patients with fragile X syndrome. In this study, we assessed M and P pathways in 22 female fragile X premutation carriers with normal intelligence and in 20 healthy non-carrier controls. Testing procedure included visual contrast sensitivity and vernier threshold measurements. Results revealed that carriers were selectively impaired on tests of M pathways (low spatial/high temporal frequency contrast sensitivity and frequency-doubling vernier), whereas they showed intact performance on P pathway tests. These results suggest that the deficit of the M pathway is an endophenotype of fragile X syndrome.     

A Model-Based Approach to Understanding Apraxia in Corticobasal Syndrome

Limb apraxia is a neurological disorder of higher cognitive function characterized by an inability to perform purposeful skilled movements and not attributable to an elementary sensorimotor dysfunction or comprehension difficulty. Corticobasal Syndrome (CBS) is an akinetic rigid syndrome with asymmetric onset and progression with at least one basal ganglia feature (rigidity, limb dystonia or myoclonus) and one cortical feature (limb apraxia, alien hand syndrome or cortical sensory loss). Even though limb apraxia is highly prevalent in CBS (70–80%), very few studies have examined the performance of CBS patients on praxis measures in detail. This review aims to (1) briefly summarize the clinical, neuroanatomical and pathological findings in CBS, (2) briefly outline what limb apraxia is and how it is assessed, (3) to comprehensively review the literature on limb apraxia in CBS to date and (4) to briefly summarize the literature on other forms of apraxia, such as limb-kinetic apraxia and buccofacial apraxia. Overall, the goal of the review is to bring a model-based perspective to the findings available in the literature to date on limb apraxia in CBS.     

Risk and dynamics of violence in Asperger's syndrome: A systematic review of the literature

The main purpose of this article is to delineate findings from a review of the literature on the empirical basis for the existence of a relationship between Asperger's syndrome (AS) and violence risk. A second aim is to examine whether certain characteristics of the disorder may have a higher violence-triggering potential. Results of this review show that there are very few empirical studies that confirm a stable link between AS and violence. Only 11 studies involving 22 patients and 29 violent incidents met the criteria for inclusion in the review after the search of the literature. However, a qualitative analysis of the studies yielded some indications of possible patterns of dynamics of violence that may prove to be typical of persons with AS. A tentative comparison of AS and psychopathy indicated that there may be qualitative differences in the characteristics of violent behavior between the disorders. Suggestions for further research are presented.     

Impaired embodiment and intersubjectivity

This paper considers the importance of the body for self-esteem, communication, and emotional expression and experience, through the reflections of those who live with various neurological impairments of movement and sensation; sensory deafferentation, spinal cord injury and Möbius Syndrome (the congenital absence of facial expression). People with severe sensory loss, who require conscious attention and visual feedback for movement, describe the imperative to use the same strategies to reacquire gesture, to appear normal and have embodied expression. Those paralysed after spinal cord injury struggle to have others see them as people rather than as people in wheelchairs and have been active in the disability movement, distinguishing between their medical impairment and the social induced disability others project onto them. Lastly those with Möbius reveal the importance of the face for emotional expression and communication and indeed for emotional experience itself. All these examples explore the crucial role of the body as agent for social and personal expression and self-esteem.     

An evaluation of counselling and rehabilitation courses for Chronic Fatigue Syndrome

The aim of the current study was to evaluate the services offered by Action for ME to sufferers of Chronic Fatigue Syndrome using measures developed and validated in previous research. Preliminary studies had suggested that clients attending rehabilitation residential courses were benefiting from the service. A further, more in‐depth evaluation process with a greater number of health‐related outcome measures was warranted. In addition, assessment was widened to include other services offered to sufferers of the illness. Data relating to the usefulness and success of the services (rated by the clients) were also collected. Data from client volunteers were collected at baseline (that is, before intervention) and approximately six months later. Quantitative comparative analyses were conducted using within‐group comparisons to assess any improvements in scores at six‐month follow‐up from baseline. Fifty‐six participants completed wide‐ranging questionnaires assessing illness history, psychopathology, psychosocial factors and health and well‐being. Data relating to improvements in illness status and acceptability of treatment were also collected by means of global outcome measures. Both the counselling and residential groups showed improvements in many areas assessed at follow‐up. Most importantly, improvements were indicated in areas such as fatigue and the levels of disability suffered by patients. In addition, there were significant improvements in ratings of mood, anxiety, depression and physical symptoms. Overall, clients reported satisfaction with the care received and most found the services useful. All of the participants who completed the evaluation stated that they would recommend Action for ME services to fellow sufferers. The outcome of the current study is encouraging. The data presented provides evidence of the high level of support and advice Action for ME offers to sufferers of this illness. Furthermore, measurable improvements in scores relating to illness status were accompanied by improvements in mental health and psychosocial variables in the patient group.     

Why neuroscience matters to cognitive neuropsychology

The broad issue in this paper is the relationship between cognitive psychology and neuroscience. That issue arises particularly sharply for cognitive neurospsychology, some of whose practitioners claim a methodological autonomy for their discipline. They hold that behavioural data from neuropsychological impairments are sufficient to justify assumptions about the underlying modular structure of human cognitive architecture, as well as to make inferences about its various components. But this claim to methodological autonomy can be challenged on both philosophical and empirical grounds. A priori considerations about (cognitive) multiple realisability challenge the thesis on philosophical grounds, and neuroscientific findings from developmental disorders substantiate that challenge empirically. The conclusion is that behavioural evidence alone is inadequate for scientific progress since appearances of modularity can be thoroughly deceptive, obscuring both the dynamic processes of neural development and the endstate network architecture of real cognitive systems.