Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors

These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are based on clinical experience, review of pertinent English language articles, and reports of expert committees. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.     

乳腺癌患者“创伤后成长”的研究进展

近年来,乳腺癌的发病率不断上升,乳腺癌已逐渐成为危害女性健康的首位恶性肿瘤。手术给患者的身心带来很大伤害,但研究者发现,在与乳腺癌这一疾病做斗争的过程中患者会产生一种正向的心理变化,这就是积极心理学领域研究的创伤后成长。本文从创伤后成长内涵、国内外研究现状、测量工具、影响因素、干预方法等几方面对乳腺癌创伤后成长研究现状进行文献综述,为乳腺癌患者心理护理提供依据。     

Quality of life and mental health among women with ovarian cancer: examining the role of emotional and instrumental social support seeking

The purpose of the present study was to examine the role of emotional and instrumental social support seeking in the quality of life (QOL) and mental health of women with ovarian cancer. Participants were recruited through the Pennsylvania Cancer Registry, and one hundred women took part in a mail questionnaire that collected information on their demographics, medical status, social support seeking, QOL and mental health including anxiety, depression and stress. Hierarchical linear regression analyses were conducted to assess the influence of emotional and instrumental social support seeking on QOL and mental health. After controlling for remission status, greater emotional social support seeking was predictive of higher overall QOL, social/family QOL, functional QOL and lower depression scores. Instrumental social support seeking was not significant in the models. The results illustrate that social support seeking as a coping mechanism is an important consideration in the QOL and mental health of women with ovarian cancer. Future studies should examine the psychological and behavioral mediators of the relationship to further understand the QOL and mental health of women with ovarian cancer.     

Case Report—Loyalty, Legacy, and Ledger: Contextual Therapy in a Patient with a Family History of Ovarian Cancer

A client's emotional experiences and reactions to those experiences are influenced by his/her family of origin and direct or indirect interactions with various family members. Contextual therapists propose that a client's satisfaction with a relationship depends on the equity of his/her emotional interactions with family members. When relationships are inequitable, trust between individuals disintegrates. In order to reestablish trust in a relationship, a balance of interests must be restored. If not, imbalances may be passed down to future generations. A case of a woman with a family history of ovarian cancer is reviewed with the principles of contextual therapy in mind. In her family, several legacies have resulted in unbalanced relationships between family members that lead to difficulty in establishing trust within the genetic counseling session.     

经肛直肠癌切除术的应用现状

在严格选择适应证的条件下,经肛直肠癌切除术是治疗早期低位直肠癌的可选术式之一。相比于直肠癌前切除术和经腹会阴切除术,经肛切除术具有创伤小,并发症少等特点。关于经肛切除术后的局部复发率以及综合治疗对经肛切除术治愈能力的影响尚存在争议。本文将对经肛切除术做一系统的回顾。     

从卡介苗成功治疗膀胱癌论肿瘤的免疫治疗

卡介苗(BCG)膀胱内灌注是治疗浅表性膀胱癌一种最有效的方法。通过对治疗后的监测发现,卡介苗灌注后可引发肿瘤部位显著的固有免疫和适应性免疫细胞反应,体内大多数的抗肿瘤免疫效应细胞参与这一反应过程。这一结果表明,有效的肿瘤免疫治疗必须由固有免疫和适应性免疫细胞协同作用才能完成。     

消化道肿瘤的过度治疗及其对策

尽管当前消化道肿瘤的临床治疗发展迅速,在取得突出成绩的同时,也存在着一些问题,比如过度治疗的现象普遍存在.从消化道肿瘤过度治疗的主要表现、危害入手,分析它的成因并制定相应对策.总之,只有以循证医学的原则为指导,树立正确的临床辩证思维模式,坚持肿瘤治疗的个体化,加强综合管理,才能避免过度治疗,消化道肿瘤治疗才能健康发展并取得更大突破.     

TACE术联合自体CIK细胞治疗原发性肝癌

探讨肝动脉栓塞化疗（TACE）联合自体细胞因子诱导的杀伤细胞（CIK）治疗原发性肝癌的临床疗效。比较TACE术＋CIK组（治疗组）和TACE组（对照组）患者的免疫功能、临床疗效及副反应。结果表明,TACE术＋CIK与TACE术比较安全有效。因此,TACE术联合自体CIK细胞是治疗原发性肝癌的一种有效方法。     

癌症患者家属选择是否告知患者真实病情的质性研究

在东方或发展中国家,家庭成员得了癌症后,家属通常反对告知患者真实病情。本研究运用质性研究方法对15例癌症患者家属进行深入访谈,探讨癌症患者家属选择是否告知患者真实病情的原因,以其为临床医护人员正确处理癌症病情告知问题提供指导。     

丙戊酸增强人罗同巢癌耐药细胞株COC1／DDP对顺铂敏感性的研究

探讨丙戊酸是否增强COC1/DDP对顺铂的敏感性并初步探讨其机制。采用WST-1、流式细胞术、免疫细胞化学法。结果丙戊酸与顺铂联合对细胞生长抑制和凋亡诱导明显强于顺铂组;NF-κB P65的表达量顺铂组高于对照组,联合组明显低于顺铂组。因此,丙戊酸增强COC1/DDP对顺铂的敏感性,且与NF-κB有关。