基于TCGA数据库分析肿瘤突变负荷在肌层浸润性膀胱癌预后评估中的价值

目的：探讨肿瘤突变负荷（TMB）在肌层浸润性膀胱癌（MIBC）预后评估中的价值。方法：从TCGA数据库下载MIBC测序数据，结合临床数据分析TMB在MIBC中的临床意义，从TMB分组中识别出差异表达的免疫相关基因进行预后分析；另外采用非负矩阵分解CIBERSORT算法确定免疫细胞与TMB亚型之间的相关性。结果：纳入的375例MIBC患者样品中单核苷酸多态性（SNP）和C > T是最常见的错义突变；TP53、TTN、KMT2D、MUC16、ARID1A基因的突变率较高；与低TMB组MIBC患者相比，高TMB组的患者预后较好（P < 0.01）；以KIR2DL4、IL1RL1、SSTR5构建的COX回归模型中低风险组MIBC患者较高风险组预后更佳，曲线下面积（ROC）为0.71；与正常膀胱组织相比，高TMB组的CD8⁺ T细胞、活化的CD4⁺ T细胞、嗜酸性粒细胞表达较高，而在低TMB组中记忆B细胞及未活化的肥大细胞表达比例较高（P < 0.05）。结论：TMB较高的MIBC患者可能在免疫治疗中获得较好的预后，TMB具有预测肿瘤免疫治疗疗效的潜在应用价值；还发现了不同组分的免疫细胞在TMB分组的MIBC肿瘤微环境中存在表达差异。     

2020年ASCO《卵巢上皮性癌胚系和体细胞肿瘤检测指南》解读

        2020年初美国临床肿瘤学会（American Society of Clinical Oncology，ASCO）首次在Journal of Clinical Oncology发布了《卵巢上皮性癌胚系和体细胞肿瘤检测指南》［1］。该指南以2007—2019年间发表的6篇Meta分析、11篇随机对照试验、2篇观察性研究的相关文献为主要参考依据，为卵巢上皮性癌肿瘤基因突变检测相关临床应用和实施提供了指导和建议。该指南的框架架构由背景、方法、结果、推荐、医患沟通、健康差异、成本影响等十几个板块组成，主要阐述了3个主要问题：应在哪些个体中进行胚系和体细胞突变肿瘤风险评估、咨询和基因检测，哪些胚系基因突变已经被证明对卵巢癌临床治疗有指导价值，以及最合适的卵巢癌基因突变检测时机。本文对该指南进行剖析和解读，以期为卵巢癌基因检测的临床应用提供相关依据和指导，为卵巢癌的规范诊治提供借鉴，也为国内同道制定相关指南提供参考。 浏览更多请关注本刊微信公众号及当期杂志。     

Community exercise programing and its potential influence on quality of life and functional reach for individuals with spinal cord injury*

Context/Objective: After an individual with a Spinal Cord Injury (SCI) participates in the initial rehabilitation process, they often experience limited access to physical therapy services and other fitness activities. The purpose of this study was to examine previously collected data for changes in quality of life (QoL) and functional reach in individuals with SCI following an 8-week community exercise program.

Design: Secondary analysis of previously collected data.

Setting: Community-based exercise program.

Participants: Twenty-two participants with an average of 9 years post-SCI, both complete and incomplete injuries, and injury levels ranging from C2 to L5.

Interventions: Participants completed an 8-week program, once per week for 4 hours that included a four-station circuit of resistance training, aerobic exercise, trunk stability, and education.

Outcome Measures: Physical function was measured using the modified Functional Reach Test (mFRT). QoL was measured with the Life Satisfaction Questionnaire-9 (LiSAT-9).

Results: The mFRT improved by 2 inches (±7.04) P?<?0.001 and QoL improved as well, P?<?0.001.

Conclusion: The findings of this study are consistent with the hypothesis that a supervised post-rehabilitation community exercise program, like Spinal Mobility, may positively impact the QoL and functional reach in individuals with SCI.     

A brief fall prevention intervention for manual wheelchair users with spinal cord injuries: A pilot study

Objective: To conduct a pilot study of an intervention to decrease fall incidence and concerns about falling among individuals living with Spinal Cord Injury who use manual wheelchairs full-time.

Design: Pre/post. After a baseline assessment, a structured intervention was implemented. The assessment protocol was repeated 12 weeks after the baseline assessment.

Setting: Research laboratory and community.

Participants: 18 individuals living with SCI who use a manual wheelchair full-time with an average age of 35.78?±?13.89 years, lived with SCI for 17.06?±?14.6 years; 61.1% were female.

Intervention: A 1:1, 45 minute, in-person intervention focused on factors associated with falls and concerns about falling: transfers skills and seated postural control.

Outcome measures: Participants reported fall incidence and completed the Spinal Cord Injury Fall Concerns Scale, Community Participation Indicators and the World Health Organization Quality of Life – short version (WHOQOL-BREF). Transfer quality was assessed with the Transfer Assessment Instrument (TAI) and seated postural control with the Function In Seating Test (FIST).

Results: Recruitment, assessment and delivery of the intervention were successfully completed. After exposure to the intervention, fall incidence significantly decreased, (P?=?0.047, d_{z ?}=?0.507) and FIST scores improved (P?=?0.035, d_z? =?0.54). Significant improvements were also found in the WHOQOL-BREF Physical (P?=?0.05, d_{z ?}=?1.566) and Psychological (P?=?0.040, d_{z ?}=?0.760) domains.

Conclusion: The feasibility of the structured intervention was established and the intervention has the potential to reduce fall incidence and improve quality of life among individuals living with SCI who use a wheelchair. Appropriately powered randomized controlled trials of the program are warranted.     

Combining robotic exoskeleton and body weight unweighing technology to promote walking activity in tetraplegia following SCI: A case study

Context: To investigate the feasibility of combining the lower-limb exoskeleton and body weight unweighing technology for assisted walking in tetraplegia following spinal cord injury (SCI).

Findings: A 66-year-old participant with a complete SCI at the C7 level, graded on the American Spinal Injury Association Impairment Scale (AIS) as AIS A, participated in nine sessions of overground walking with the assistance from exoskeleton and body weight unweighing system. The participant could tolerate the intensity and ambulate with exoskeleton assistance for a short distance with acceptable and appropriate gait kinematics after training.

Conclusion: This report showed that using technology can assist non-ambulatory individuals following SCI to stand and ambulate with assistance which may promote general physical and psychological health if used in the long term.     

EMG breakthrough during cortical silent period in congenital hemiparesis: a descriptive case series

BackgroundThe cortical silent period is a transient suppression of electromyographic activity after a transcranial magnetic stimulation pulse, attributed to spinal and supraspinal inhibitory mechanisms. Electromyographic breakthrough activity has been observed in healthy adults as a result of a spinal reflex response within the cortical silent period.ObjectivesThe objective of this case series is to report the ipsilesional and contralesional cortical silent period and the electromyographic breakthrough activity of 7 children with congenital hemiparesis.MethodsTMS was delivered over the ipsilesional and contralesional primary motor cortices with resting motor threshold and cortical silent period measures recorded from first dorsal interosseous muscle.ResultsSeven children (13 ± 2 years) were included. Ipsilesional and contralesional resting motor thresholds ranged from 49 to 80% and from 38 to 63% of maximum stimulator output, respectively. Ipsilesional (n = 4) and contralesional (n = 7) cortical silent period duration ranged from 49 to 206 ms and 81 to 150 ms, respectively. Electromyographic breakthrough activity was observed ipsilesionally in 3/4 (75%) and contralesionally in 3/7 (42.8%) participants. In the 3 children with ipsilesional breakthrough activity during the cortical silent period, all testing trials showed breakthrough. Contralesional breakthrough activity was observed in only one of the analyzable trials in each of those 3 participants. The mean peak amplitude of breakthrough activity ranged from 45 to 214 μV (ipsilesional) and from 23 to 93 μV (contralesional).ConclusionFurther research is warranted to understand the mechanisms and significance of electromyographic breakthrough activity within the cortical silent period in congenital hemiparesis. Understanding these mechanisms may lead to the design of tailored neuromodulation interventions for physical rehabilitation.Trial registrationNCT02250092 (https://clinicaltrials.gov/ct2/show/NCT02250092)     

快速康复外科护理在经鼻蝶入路垂体瘤切除术围术期护理中的效果分析

目的 探讨快速康复外科护理在经鼻蝶入路垂体瘤切除术围术期护理中应用效果。方法 选择我院2016年3月～2019年3月收治的经鼻碟入路垂体切除术患者中50例作为研究对象,按照随机数字表法分为对照组(n=25)与研究组(n=25),对照组患者给予常规围手术期护理,研究组患者在此基础上实施快速康复外科护理,比较两组手术相关指标、护理不良事件及护理满意度。结果 两组术中出血量及手术时间比较,差异无统计学意义(P0.05);研究组患者的入住监护室时间、术后住院时间、不良事件总发生率、护理总满意度均优于对照组(P0.05)。结论 对经鼻碟入路垂体瘤切除术患者予围手术期快速康复外科护理,能够有效降低护理不良事件发生率,缩短患者住院时间,提高患者护理满意度,值得临床推广应用。