Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations

Lynch syndrome or hereditary non-polyposis colorectal cancer is caused by mutations of DNA mismatch repair (MMR) genes. The extracolonic tumour spectrum includes endometrial, ovarian, gastric, small bowel, pancreatic, hepatobiliary, brain, and urothelial neoplasms. Families were referred on the basis of clinical criteria. Tumour immunohistochemistry and microsatellite testing were performed. Appropriate patients underwent sequencing of relevant exons of the MMR genes. Proven and obligate mutation carriers and first-degree relatives (FDRs) with a Lynch syndrome spectrum cancer were considered mutation carriers, as were a proportion of untested, unaffected FDRs based on the proportion of unaffected relatives testing positive in each age group. Kaplan–Meier analysis of risk to 70 years was calculated. One hundred and eighty-four Lynch syndrome spectrum extracolonic cancers in 839 proven, obligate, or assumed mutation carriers were analysed. Cumulative risk for females of an extracolonic tumour is 47.4% (95% CI 43.9–50.8). The risk to males is 26.5% (95% CI 22.6–30.4). There was no reduction in gynaecological malignancies due to gynaecological screening (examination, transvaginal ultrasound scan, hysteroscopy and endometrial biopsy). Males have a higher risk of gastric cancer than females (p = 0.0003). Gastric cancer risk in those born after 1935 does not justify surveillance. These penetrance estimates have been corrected for ascertainment bias and are appropriate for those referred to a high-risk clinic.     

The future in clinical genetics: affective forecasting biases in patient and clinician decision making

When clinicians facilitate and patients make decisions about predictive genetic testing, they often base their choices on the predicted emotional consequences of positive and negative test results. Research from psychology and decision making suggests that such predictions may often be biased. Work on affective forecasting—predicting one's future emotional states—shows that people tend to overestimate the impact of (especially negative) emotional events on their well‐being; a phenomenon termed the impact bias. In this article, we review the causes and consequences of the impact bias in medical decision making, with a focus on applying such findings to predictive testing in clinical genetics. We also recommend strategies for reducing the impact bias and consider the ethical and practical implications of doing so.     

AD/HD and the capture of attention by briefly exposed delay-related cues: evidence from a conditioning paradigm

BACKGROUND: The selective attention of children with attention deficit/hyperactivity disorder (AD/HD) to briefly exposed delay-related cues was examined in two experiments using a dot-probe conditioning paradigm. METHOD: Colour cues were paired with negatively (i.e., imposition of delay) and positively valenced cues (i.e., escape from or avoidance of delay) during a conditioning phase. These cues were presented alongside neutral cues in a subsequent dot-probe detection phase. RESULTS: In experiment 1 teacher-identified children with AD/HD (N = 12), but not controls (N = 12), displayed an attentional bias towards both positively and negatively valenced cues. In experiment 2 children with a diagnosis of hyperkinetic disorder (N = 15), but not controls (N = 15), displayed a bias towards delay-related cues. However, this effect was largely carried by the response to positively valenced cues. CONCLUSIONS: These results confirm the dot-probe conditioning paradigm as a useful test of motivational influence on attention. They provide the first evidence of qualitative differences in the attentional style of children with AD/HD and give further support to those theories that highlight the motivational significance of delay in AD/HD.     

Implications of ideological bias in social psychology on clinical practice

Ideological bias is a worsening but often neglected concern for social and psychological sciences, affecting a range of professional activities and relationships, from self‐reported willingness to discriminate to the promotion of ideologically saturated and scientifically questionable research constructs. Though clinical psychologists co‐produce and apply social psychological research, little is known about its impact on the profession of clinical psychology. Following a brief review of relevant topics, such as “concept creep” and the significance of the psychotherapeutic relationship, the relevance of ideological bias to clinical psychology, counterarguments and a rebuttal, clinical applications, and potential solutions are presented. For providing empathic and multiculturally competent clinical services, in accordance with professional ethics, psychologists would benefit from treating ideological diversity as another professionally recognized diversity area.     

Facial and prosodic emotion recognition in social anxiety disorder

Introduction: Patients with social anxiety disorder (SAD) have a cognitive preference to negatively evaluate emotional information. In particular, the preferential biases in prosodic emotion recognition in SAD have been much less explored. The present study aims to investigate whether SAD patients retain negative evaluation biases across visual and auditory modalities when given sufficient response time to recognise emotions.

Methods: Thirty-one SAD patients and 31 age- and gender-matched healthy participants completed a culturally suitable non-verbal emotion recognition task and received clinical assessments for social anxiety and depressive symptoms. A repeated measures analysis of variance was conducted to examine group differences in emotion recognition.

Results: Compared to healthy participants, SAD patients were significantly less accurate at recognising facial and prosodic emotions, and spent more time on emotion recognition. The differences were mainly driven by the lower accuracy and longer reaction times for recognising fearful emotions in SAD patients. Within the SAD patients, lower accuracy of sad face recognition was associated with higher severity of depressive and social anxiety symptoms, particularly with avoidance symptoms.

Conclusion: These findings may represent a cross-modality pattern of avoidance in the later stage of identifying negative emotions in SAD. This pattern may be linked to clinical symptom severity.     

医学新生儿童期心理虐待与创造力、认知偏差的调查分析

目的:了解海南医学新生的儿童心理虐待状况;比较不同创造力、认知偏差类型的学生的儿童期心理虐待差异。方法:方便取样,采用儿童心理虐待量表、卡特尔多项人格量表-创造力、认知偏差问卷对365名自愿参与的海南省某医学院临床医学专业2014级新生进行测量,对数据进行t检验和方差分析。结果:男生的恐吓、贬损、干涉、纵容维度得分高于女生(t=2.38,2.17,2.40,2.72;P均0.05);独生子女医学新生的忽视维度得分低于非独生子女者,而干涉维度得分高于后者(t=-3.82,2.17;P均0.05);单亲家庭医学新生的忽视和贬损维度得分高于非单亲学生(t=2.80,3.24;P均0.05)。不同创造力等级的医学新生在儿童心理虐待得分上的差异无统计学意义。不同认知偏差类型的医学新生在贬损、干涉维度得分上的差异均有统计学意义(F=10.92,13.54;P均0.001)。结论:不同性别、是否独生、是否单亲的医学新生在儿童期遭受的心理虐待不一样;不同创造力的医学新生在儿童期遭受的心理虐待无差异;不同认知偏差类型的医学新生在童年期遭受的贬损和干涉高于其他类型者。     

人心肌肌钙蛋白Ⅰ基因的人工合成及高效表达

目的人工设计合成完整的人心肌肌钙蛋白I(hcTnI)基因,克隆并在大肠杆菌中获得高效表达。方法根据大肠杆菌遗传密码的偏爱性,人工设计合成hcTnI基因,测序正确后通过DNA重组技术将其插入温控型表达载体pBV220,转化大肠杆菌(E.coli)DH5α,构建cTnI基因的非融合表达菌hcTnI-pBV220/DH5α,热激后诱导非融合蛋白的表达,用单克隆抗体检测特异性hcTnI蛋白表达。结果序列分析表明克隆载体中的cTnI人工基因与设计相符,双酶切电泳结果证明表达载体构建成功,经SDS-PAGE证实重组蛋白的相对分子质量(Mr)约24000,凝胶密度扫描约占菌体总蛋白的25%,能与cTnI单克隆抗体特异性结合。结论成功获得cTnI人工基因,构建了cTnI基因原核表达载体并获得了高效表达,为制备高特异性的抗体及临床检测应用奠定了基础。