修复基因XRCC4启动子-1394多态性与胃癌关联性的研究

XRCC4基因是一个非常重要的DNA损伤修复基因,在维持基因组的完整性与稳定性方面起着重要的作用,有效预防肿瘤的发生。本研究选取了210例胃癌患者及254例性别、年龄相匹配的正常对照者进行研究,采用限制性片段长度多态性方法,明确胃癌患者及正常对照者基因型。XRCC4基因启动子-1394多态性两组间有显著差异。XRCC4基因启动子-1394多态性的G等位基因频率,胃癌组明显高于正常对照组（OR=2．35,95％CI=1．24～4．46,P=0．007）;基因型频率胃癌组与正常对照组有显著差异（P=0．008）：携带基因型TG的个体比TT的个体罹患胃癌的风险提高了2．46倍（95％CI=1．27—4．76）。总之,XRCC4基因启动子-1394位点的G等位基因在胃癌的发生过程中起着至关重要的作用。     

论中医的辨证论治与肿瘤的分子靶向治疗

辨证论治是中医认识和治疗疾病的基本原则,“同病异治”和“异病同治”是辨证论治的精神实质。恶性肿瘤的分子靶向治疗在很多方面都贯彻了“辨证论治”观念,将所辨的证候落实到受体、基因和各种调控系统上。尽管两者理论基础完全不同,但都强调以患者为中心的综合治疗和个体化治疗理念,对建立正确的临床思维非常重要。     

进展期非小细胞肺癌维持治疗进展

化疗在进展期非小细胞肺癌的地位已经确立,现有的方案已经达到“化疗疗效平台”。延长化疗无潜在益处,有什么办法可以保持现有的疗效。为此,提出了维持治疗的概念,维持治疗是指患者在完成标准的几个周期化疗且疾病得到控制后再接受的化疗,架起一二线治疗间的桥梁。带来进一步的临床获益。     

局限期小细胞肺癌放疗中预防野照射和累及野照射的疗效分析

局限期小细胞肺癌综合治疗中采用三维适型或调强放疗技术,按不同照射范围分为累及野照射和预防野照射2个组进行比较,分析不同照射野对预后的影响。 67例局限期小细胞肺癌患者,随机分为累及野照射组37例和预防野照射组30例。累及野照射组照射范围包括化疗前CT所见肿瘤及转移淋巴结范围,预防野照射组照射范围包括原发灶、同侧肺门、纵隔及锁骨上淋巴引流区。两组均采用三维适形或调强技术,放疗剂量为DT50Gy～66Gy/5周～6周。结果全组总有效率为82.1%,局部复发率为29.9%,远处转移率为56.7%,1年、2年、3年生存率分别为68.7%、36.2%和20.1%,分组比较以上指标均无显著性差异（P＞0.05）。而两组病例急性放射性肺炎和食道炎发生率分别为5.4%、16.7%和2.7%、20.0%,累及野照射食管炎发生率显著低于预防野（P＜0.05）。     

Development of an Interactive Decision Aid for Female BRCA1/BRCA2 Carriers

Shared decision making between patients and providers is becoming increasingly common, particularly when there is no clear preferred course of action. As a result, decision aids are being adopted with growing frequency and have been applied to many medical decision-making issues. One such issue where there is uncertainty is breast cancer risk management among BRCA1/BRCA2 carriers. We present the development of a CD-ROM decision aid to facilitate risk management decision making in this population. Our decision aid was developed with the intention of providing it through a randomized clinical trial. The CD-ROM is a multimedia, interactive intervention which provides information about breast cancer, risks associated with BRCA1 and BRCA2 mutations, risk management options for hereditary breast cancer, and a breast cancer risk management decision aid. The goal of this CD-ROM, offered as an adjunctive intervention, is to reduce decisional conflict and psychological distress and improve comprehension of risk information, decisional satisfaction, medical adherence, and quality of life for this population of women at increased risk for breast cancer.     

Subjective and Objective Risks of Carrying a BRCA1/2 Mutation in Individuals of Ashkenazi Jewish Descent

This repeated measures study examines (1) the change in subjective risk of mutations pre- to postcounseling, (2) the accuracy of BRCAPRO estimates of mutations, and (3) the discrepancy between subjective risk and BRCAPRO estimates of mutations before and after genetic counseling. Ninety-nine Ashkenazi Jewish individuals pursued testing for BRCA1/2 mutations. Most had a personal cancer history (N = 51; family only: N = 48); and received uninformative negative results (N = 66; positives: N = 23; informative negative: N = 10). The coping strategy of defensive pessimism predicts that individuals will believe the worst case scenario to better cope with a potential negative outcome. Consistent with this, most felt they would have a mutation, if not mutations in both genes. The BRCAPRO model appeared to overestimate risk of having a mutation in this sample (p < .001). BRCAPRO overestimates notwithstanding, genetic counseling increased accuracy of subjective risk (p < .01). Individuals with a family-only cancer history had the least accurate estimates of risk (p < .05) and may need further intervention to either manage anxiety or improve knowledge.     

Breast Cancer in Men: A Need for Psychological Intervention

Male breast cancer is a serious issue that needs to be addressed more fully by the medical and public community. However, due to a lack of awareness and limited research on the topic, there is a general absence of knowledge concerning the psychological implications of this disease in men as well as a need for greater understanding of the medical diagnosis and treatment of male breast carcinoma. Similarly, there still remains a considerable gender difference between the awareness of female breast cancer and male breast cancer Although breast cancer in men makes up only 1% of all breast cancers reported in the United States, it is increasing in incidence. There are approximately 2000 new cases and approximately 450 deaths due to male breast cancer each year. Breast cancer diagnosis and treatment in men is very similar to that described in women, however, it has been shown that men are being diagnosed at a later stage of the disease than women.     

Emotional Reaction to Fragile X Premutation Carrier Tests Among Infertile Women

Female fragile X premutation carriers are at ∼10-fold increased risk of premature ovarian failure (follicle stimulating hormone >40 mIU/mL, amenorrhea, age <40). A milder degree of premature ovarian aging (diminished ovarian reserve, where follicle stimulating hormone levels are typically 10–20 mIU/mL) results in infertility. Approximately 10% of fertility clinic patients have this diagnosis. A cohort of 20 women diagnosed with diminished ovarian reserve provided a blood specimen (confidential results), and completed structured questionnaires that assessed emotional reactions to potentially being a premutation carrier (pretest questionnaire, n = 20) and the posttest known carrier status (3 month follow-up questionnaire, n = 18 non-carriers). Responses were measured using 9-point scales, and analyzed with Fisher exact and Wilcoxon exact tests. While most participants did not view fragile X premutations as a serious medical condition, perceptions of seriousness were positively correlated with anger and regret about not knowing sooner of the potential association of these premutations with infertility. Overall, when women (pretest) imagined themselves as carriers, their self-esteem and Health Orientation Scale responses were unchanged with the exception of feeling more afraid (p = 0.004). Despite strongly wishing for negative test results, they were glad to know there might be a medical explanation for their infertility. Financial Support: This work was financially supported by a University of Virginia School of Medicine Research & Development Award.     

Consenting to uncertainty: challenges for informed consent to disease screening—a case study

This paper uses chronic beryllium disease as a case study to explore some of the challenges for decision-making and some of the problems for obtaining meaningful informed consent when the interpretation of screening results is complicated by their probabilistic nature and is clouded by empirical uncertainty. Although avoidance of further beryllium exposure might seem prudent for any individual whose test results suggest heightened disease risk, we will argue that such a clinical precautionary approach is likely to be a mistake. Instead, advice on the interpretation of screening results must focus not on risk per se, but on avoidable risk, and must be carefully tailored to the individual. These points are of importance for individual decision-making, for informed consent, and for occupational health.

An efficient cervical disease diagnosis approach using segmented images and cytology reporting

Cervical cancer is the second most common cancer in women globally. A computer aided cervical disease diagnosis system that can relieve pressure on medical experts and save the cost is proposed. To implement our approach in the reality of cervical diseases diagnosis, a multi-modal framework is designed for three kinds of cervical diseases diagnosis that integrates uterine cervix images, Thinprep Cytology Test, human papillomavirus test, and patients’ age. However, too many features increase memory storage costs and computational costs, and it affects the spread of this system in poor areas. Feature selection not only eliminates redundant or irrelevant features but also finds the factors that influence the disease most first is performed in multi-modal frameworks for cervical diseases diagnosis. The detailed process of the method is as follows: first, according the representative color, an efficient image segmentation algorithm is developed; then from three different types of segmented images, we extract color features and texture features for interpreting uterine cervix images; next, Boruta algorithm is applied to feature selection; finally, the performance of Random Forests that utilizes selected features for cervical disease diagnosis is investigated. In the experiment, the proposed multi-modal diagnostic approach gives the final diagnosis for three different kinds of cervical diseases with 83.1% accuracy, which significantly outperforms methods using any single source of information alone. The validation cohort is applied to validate the efficiency of our method, and the performance of random forest obtained by using only 1.2% of features is like or even better than using 100% of features.