“Social Separation” Among Women Under 40 Years of Age Diagnosed with Breast Cancer and Carrying a BRCA1 or BRCA2 Mutation

We conducted an exploratory, qualitative study investigating experiences of women who had developed breast cancer under the age of 40 and who were identified as BRCA1 or BRCA2 mutation carriers. These germline mutation carriers face an increased lifetime risk of a second primary breast cancer and an increased risk for a primary ovarian cancer. Thirteen women who fit this criteria participated in three focus groups conducted at a major cancer center in the UK during Spring 2003. We asked broad, open-ended questions that allowed for a wide range of responses about their cancer and genetic testing experiences, physical and psycho-social concerns, family and partner reactions and their need for social support. The women expressed feelings of devastation, loneliness, feeling different and isolation, ambivalence about having to support family members, worries about partner’s anxiety and depression, and anxiety about talking to family members, especially children. These feelings were stronger after the cancer diagnosis and compounded by the genetic test results that occurred at a later time. We also found that, at least temporarily, the women experienced what we call “social separation”—emotional distance from, or dissonance with groups they interact with or are part of, e.g., family and friends, frequently leading to a reduction in communication or a change in previously unstated, but accepted normal interaction. We concentrate on a few characteristics of social separation—feelings of aloneness, isolation and separation, use of silence and verbal discretion, the relationship between estrangement and kinship interaction and norm disruption, and are looking at social patterns of interpersonal relationships that may occur when risk and illness statuses are new and framing and feeling rules have not as yet been clearly developed due to a cultural lag.     

Facilitating Family Communication About Predictive Genetic Testing: Probands’ Perceptions

The responsibility of informing relatives that predictive genetic testing is available often falls to the proband. Support is required during this process, however the perceived utility of genetic counseling and other strategies to facilitate communication have not been explored. We investigated the experiences of 12 individuals with hereditary nonpolyposis colorectal cancer (HNPCC) in a semistructured telephone interview. Respondents informed their immediate family about the availability of genetic testing, however many more-distant relatives were not directly informed. Respondents were mostly satisfied with the way they told family members about testing and had mixed views about the usefulness of genetic counseling. Gender differences were observed, with most men expressing a need for guidance or support in communicating to relatives. Letters and booklets were thought to enhance the quality of information but the provision of further aids is unlikely to increase the number of relatives made aware of predictive testing by the proband.     

Parental Locus of Control and Family Functioning in the Quality of Life of Children with Sickle Cell Disease

The objective was to examine the association of parental locus of control (PLOC) with pediatric quality of life (QOL) for children with sickle cell disease (SCD), specifically addressing the potential mediating role of family functioning. Associations with disease severity were also investigated. Thirty-one primary caregivers completed standard measures of parental locus of control, family functioning, and quality of life during their child's inpatient admission for pain or fever. Results indicated that the PLOC total score was significantly associated with QOL in terms of self-competence and showed marginal significance with QOL social competence; it was significantly negatively correlated with family functioning. The association of the PLOC with QOL subscales was maintained when controlling for family functioning. Disease severity was not associated with PLOC scores. Primary caregivers endorsed more external parental locus of control beliefs. Further investigation of the association of caregiver appraisals and family functioning is warranted with the goal of addressing the stress that disease management with sickle cell may add to parent–child relationships.     

Breast Cancer and the Descent: The Loss and Return of Spring

This article approaches breast cancer as an initiation into a healing process that provides the opportunity for the transformation of a basic fault in the personality. Breast cancer will be approached as a metaphor alerting one to a crises of interiority, a loss of connection to ones inner dimension and ones feminine consciousness. This metaphor contains both the loss of the connection and the possibility of its recovery. The process involves a velocity of descent very difficult to endure; it involves a profound and accelerated unraveling of the rationality that previously served as a container stabilizing the ego. The perilousness of the descent imagery reflects the precipitousness of this unraveling. The precipitous descent is seen as an attempt of the soul to heal and reintegrate the personality by revisiting and illuminating a space abandoned long ago. The integration of this part of the personality results in a return of generativity, energy, and creativity.     

Factors Influencing Men's Interest in Gene Testing for Prostate Cancer Susceptibility

Interest in genetic testing for inherited cancer susceptibility is high in the general population. Women at risk for BRCA1 and BRCA2 mutations represent the best-studied population undergoing genetic testing for cancer susceptibility. However, it is unclear whether factors influencing interest in genetic testing in women are directly applicable to men. We designed a study to examine factors associated with men's interest in genetic testing to identify prostate cancer susceptibility. Our sample consisted of 267 men present in waiting rooms of a urology clinic in an urban area. We examined whether the concept of monitoring could be used to predict the interest of men in a genetic test for prostate cancer susceptibility. Our results indicated that monitoring trait was positively associated with interest in genetic testing in these men, but principally for patients rather than nonpatients. Moreover we found that monitoring was associated with over estimation of risk in those men with prostate cancer. Other factors found to influence interest in genetic testing included recommendation by a doctor, family history of prostate cancer, and cost. This study indicated that interest in genetic testing and estimation of risk is influenced by a complex interaction between both psychological factors (monitoring) and nonbehavioral factors (such as patient status, cost, and doctor recommendation).     

模型方法在神经干细胞研究中的应用

神经干细胞(neural stem cell NSC)是一种终身具有自我更新能力的细胞,其子细胞能分化产生神经系统的各类细胞,这一特性为神经系统各类疾病的治疗带来了新的希望.模型方法是医学研究的基本方法.就模型方法在神经干细胞研究中的应用作一综述有重要意义.     

骨髓间充质干细胞移植治疗感音神经性聋的进展及评价

目前感音神经性聋缺乏直接有效的药物治疗措施,基因治疗及干细胞移植治疗为临床治疗提供新的思路。骨髓间充质干细胞具有异于其他干细胞的优点,耳蜗内移植后能起到基因治疗的目的,并有潜在的分化为内耳功能细胞的功能,但仍面临诸多尚待解决的问题。     

结直肠癌多学科专家组诊疗模式

结直肠癌多学科专家组诊疗模式(colorectal cancer multidisciplinary team,CRC-MDT),最早始于英国,它以病人为中心,多个学科共同参与诊治过程,制定出最适合病情的多模式相结合的科学合理的诊疗方案。此后,结直肠癌多学科专家组诊疗模式逐渐在德国、法国、意大利、美国等医疗中心相对集中的国家得到推广和完善。北京大学人民医院胃肠外科于2002年成立了包括内科、外科,病理科、影像科等8个学科专家组成的胃肠MDT。越来越多的临床实践证实,结直肠癌多学科专家组的诊疗方案,更具有科学性和合理性,明显改善结直肠癌病人预后,增加了患者的临床获益。目前,结直肠癌多学科专家组诊疗模式在世界范围内已经成为现代医院医疗体系的重要组成部分。结直肠癌MDT模式不只是对患者进行多学科会诊,而是对整个医疗过程全程指导,促进学科间的交流,增进学科间了解。在欧美CRC-MDT发展完善的地区,人们的目光不仅关注MDT在结直肠癌诊治中的应用,而且注意到了MDT作为一套宏观的医疗管理模式,在结直肠癌诊治流程运作中的社会效益、经济学价值的推动作用。