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.     

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.     

微流控分析芯片在循环肿瘤细胞检测中的运用

随着人们对于肿瘤性疾病的发生、发展、转移机制的进一步探索,循环肿瘤细胞（CTCs）逐渐进入人们视野,其应用价值日益体现,可用于肿瘤性疾病的早期诊断及治疗效果的监测,尤其是对于早期肿瘤的诊断具有独特优势。其富集技术及检测方法也在发生着日新月异的变化。近年来,微流控分析芯片技术运用于 CTCs 的富集及检测,具有高丰度、高富集度、高活性及不需要对样本进行预处理等优点使得人们聚焦于此技术,本文对微流控分析芯片在 CTCs 检测中的运用做简要综述。     

晚期乳腺癌原发灶局部处理的若干问题

乳腺癌仍然是严重威胁女性健康的重大疾病。每年新发乳腺癌患者中约有6％为Ⅳ期乳腺癌,而这类患者5年生存率小于20％,局部处理（外科、放疗）可以根除局部病灶及微小转移灶,以延缓或者缓解症状,但是否可以带来生存获益尚无定论。本文对Ⅳ期乳腺癌原发灶的局部处理等方面的若干问题作一综述。     

直肠间质瘤致下消化道大出血1例报告

胃肠道间质瘤是一种发生于消化道的少见的间叶肿瘤,直肠间质瘤更为罕见,在直肠肿瘤中的发生率0．1％以下。直肠问质瘤的临床表现无特异性,与其他直肠肿瘤相似,随肿瘤逐渐增大可表现为排便习惯改变、便血、排便困难等。临床确定诊断困难。手术治疗是能够治愈直肠问质瘤的唯一方法。格列卫作为一线化疗药物对术前降期及改善预后都有良好疗效。本例患者因下消化道大出血入院,肿瘤近肛缘,术中病理考虑为直肠闻质瘤,完整切除肿瘤后行保肛术。术后应用格列卫,随诊3个月无复发、转移。     

关注肿瘤患者避免过度诊疗——解析ASCO大会关于肿瘤诊疗的5项建议

现代肿瘤的诊疗水平已经有了长足的进步,先进的诊断技术使得很多肿瘤得以早期发现并积极治疗,很多晚期患者也不再面临无药可用的境地,但由于临床医生的认识存在偏差,存在过度诊断和过度治疗的问题,进而给患者带来不必要的负担和痛苦。美国临床肿瘤学会（ASC0）年会上发布了一篇名为“ASCO为改善肿瘤治疗质量及医疗花费的5项建议”的文章,特别提出要重视五项临床广泛应用、花费较大,但缺乏高级临床证据的肿瘤治疗或干预措施,也提示我们需要充分评估,综合思考,为合适的患者提供正确的诊治方案,才能给患者带来更大的获益。     

早期目标血糖管理下严重脓毒症患者HMGB1的变化及其临床意义

探讨早期目标血糖管理对严重脓毒症患者HMGB1变化的影响.严重脓毒症患者随机分为血糖控制A（4.4mmol/L~6.1mmol/L）、B（6.2mmol/L~8.3mmol/L）、C（8.4mmol/L~10.0mmol/L）三组.给予早期目标血糖管理,入ICU后0d、1d、3d、5d、7d采血测TNF-α、HMGB1浓度.三组TNF-α、HMGB1浓度及APACHEⅡ评分均呈下降趋势,A组HMGB1浓度及APACHEⅡ评分在第7d较B、C组明显降低（P＜0.05）.A组28d病死率较B、C组降低（P＆gt;0.05）.严重脓毒症患者在早期目标血糖管理下,显著降低HMGB1浓度,降低病死率和改善预后,HMGB1可用来评价脓毒症的严重程度及预后.     

胃肠道肿瘤的分子靶向治疗:未来的方向?

分子靶向治疗是这几年来消化道肿瘤治疗领域的热门话题.这类新一代的分子靶向生物治疗模式,将在临床治疗肿瘤实践中具有广阔的应用前景.从事肿瘤研究的临床医务人员需要综合归纳这些信息,融汇入自己的认知将之合理应用于患者.我们将真正进入传统的细胞毒性药物攻击与非细胞毒性靶向性药物相结合使用的时代,真正实现延长患者的生命,改善其生活质量的目标.     

Executive functions and social skills in survivors of pediatric brain tumor

Medical advances have resulted in increased survival rates for children with brain tumors. Consequently, issues related to survivorship have become more critical. The use of multimodal treatment, in particular cranial radiation therapy, has been associated with subsequent cognitive decline. Specifically, deficits in executive functions have been reported in survivors of various types of pediatric brain tumor. Survivors are left with difficulties, particularly in self-monitoring, initiation, inhibition, and planning, to name a few. Another domain in which survivors of pediatric brain tumor have been reported to show difficulty is that of social skills. Parents, teachers, and survivors themselves have reported decreased social functioning following treatment. Deficits in executive functions and social skills are likely interrelated in this population, as executive skills are needed to navigate various aspects of social interaction; however, this has yet to be studied empirically. Twenty-four survivors of pediatric brain tumor were assessed using a computerized task of executive functions, as well as paper-and-pencil measures of social skills and real-world executive skills. Social functioning was related to a specific aspect of executive functions, that is, the survivors' variability in response time, such that inconsistent responding was associated with better parent-reported and survivor-reported social skills, independent of intellectual abilities. Additionally, parent-reported real-world global executive abilities predicted parent-reported social skills. The implications of these findings for social skills interventions and future research are discussed.     

Treatment, Age, and Time-Related Predictors of Behavioral Outcome in Pediatric Brain Tumor Survivors

The research has shown that children surviving cancer are at risk for long-term emotional and behavioral problems secondary to the cumulative effects of cranial irradiation and chemotherapy. The purpose of this study was to investigate the emotional and behavioral outcome of children diagnosed with brain tumor and treated with cranial irradiation and chemotherapy by looking at the association between treatment, time, age, and cognitive-related variables on externalizing and internalizing behaviors at 3 years posttreatment. Fifty-four brain tumor survivors were administered a neuropsychological test battery, whereas the parents filled out the CBCL and Conners' Parent Rating Scale. The results indicate that chemotherapy treatment with vincristine, cytoxan, cisplantinum, and/or VP16 was related to poorer internalizing and externalizing behavioral outcome, especially attention, social withdrawal, and anxious–depressive symptomatology. Age at time of diagnosis or treatment, time since discontinuation of treatment, type and/or total dose of radiation therapy was not significantly correlated with any of the behavioral outcome scales. Verbal memory and learning deficits accounted for a significant portion of the variance in social withdrawal, whereas lower scores in overall intellectual functioning and verbal fluency was related to disturbances in attention, inhibition, and social functioning. The findings suggest that children treated with 1 or a combination of any of the aforementioned chemotherapy agents who exhibit declines in intellectual functioning and memory are at increased risk for long-term behavioral problems 3 years after treatment cessation. These findings support the importance for early psychotherapeutic and supportive intervention services immediately after treatment cessation, with the goal of circumventing these potentially debilitating emotional problems.