室间隔缺损(VSD)介入治疗中封堵器的个体化应用

 目的  研究室间隔缺损(ventricular septal defect,VSD)介入治疗中封堵器个体化选择对疗效和并发症的影响。方法  选择符合介入治疗标准的137例VSD患者为研究对象,男性71例,女性66例,年龄3~76 (31.52±16.13)岁。其中膜周部98例,单纯肌部10例,嵴内型12例,外科修补术后残余分流VSD11例,心肌梗死后室间隔穿孔VSD 5例,外伤引起的室间隔肌部穿孔VSD 1例。根据左心室造影VSD的形态、大小、与主动脉瓣及三尖瓣的关系进行个体化选择封堵器介入治疗,术后即刻、24 h、1个月、3个月、6个月和12个月观察随访其疗效、并发症、心腔大小和肺动脉压力的变化。结果  124例患者成功封堵(90.51%),共使用了126个封堵器(2例患者分别使用了2个封堵器)：对称型封堵器26个(20.6%),边3型18个(14.3%),边4型44个(34.9%),边5 型13个(10.3%),偏心型14个(11.1%),肌部11个(8.7%)。29例(23.4%)术后出现心律失常,分别是Ⅰ度房室传导阻滞、左前分支传导阻滞、完全性左束支传导阻滞、不完全性右束支传导阻滞、完全性右束支传导阻滞、室上性早搏和加速性交界性心动过速,总恢复率为96.6%,无Ⅲ度AVB。左心房前后径和左心室舒张末内径在术后24 h明显缩小(P=0.001及0.002);左心室收缩末内经在术后24 h及术后1个月均缩小(P=0.007);左心室射血分数在术前术后、24 h、术后随访中变化无明显统计学意义。肺动脉收缩压术后24 h较术前有明显下降(P=0.001),术后1、3、6、12个月均未见进一步下降(P=0.820)。结论  经导管介入治疗VSD,封堵器应个体化选择,选择合适的封堵器既能有效封堵VSD,又可减少发生或避免医源性并发症。     

Review of clopidogrel dose escalation in the current era of potent P2Y12 inhibitors

Dual anti-platelet therapy with aspirin and a P2Y12 inhibitor is the standard of care for patients with acute coronary syndromes (ACS) and for patients undergoing percutaneous coronary intervention (PCI). Clopidogrel is associated with increased risk of high on-treatment platelet reactivity (HTPR) compared to ticagrelor and prasugrel. Investigators have therefore sought to “escalate” clopidogrel dosing to overcome HTPR to reduce ischemic/thrombotic events. In this review, we will summarize the evidence for dose escalation in the context of genetic determinants of resistance and platelet function data. We will review contemporary clinical trials that have sought to improve delivery of dual antiplatelet therapy to patients with coronary artery disease and discuss the potential of clopidogrel dose escalation in specific populations.     

个性化护理对老年糖尿病患者出院后遵医行为的影响

目的：观察个性化护理对老年糖尿病患者出院后遵医行为的影响,探讨提高老年糖尿病患者护理质量的措施。方法选择同期住院治疗的老年2型糖尿病患者84例,随机均分为对照组和观察组,对照组住院期间给予常规专科护理,观察组住院期间施行个性化护理措施,比较两组患者出院6个月后血糖指标、遵医行为评分及生活质量评分。结果出院6个月后两组患者的血糖指标、遵医行为评分及生活质量评分比较,差异均具有统计学意义（P＜0.05）,观察组均优于对照组。结论对老年住院糖尿病患者应积极施行个性化护理措施,不仅有利于患者住院期间的恢复,还有利于患者出院后血糖水平的控制与生活质量的提高。     

个性化健康教育对哮喘患儿父母生活质量的影响

目的探讨社区个性化健康教育对哮喘患儿父母生活质量的影响。方法采用随机数字表法,将101名哮喘患儿及家长分为干预组52名和对照组49名。对照组采用传统授课和发放儿童哮喘知识宣教手册,干预组在此基础上实施个性化健康教育,即在传统授课的基础上加入家庭哮喘应对行动计划的书写及行动目标的拟定。采用儿童照护者生活质量问卷(paediatric asthma caregiver’s quality of life questionnaire,PACQLQ)测评干预前后两组患儿父母PACQLQ得分的差异。结果干预1个月后,干预组患儿父母PACQLQ总分、活动受限和情感功能维度得分均高于对照组和干预前,组间和组内比较,差异具有统计学意义(均P<0.001)。结论个性化健康教育提高了哮喘患儿父母的生活质量。     

在特殊教育个别化教育计划中纳入辅助技术:基于SETT框架①

为了使特殊教育教师能较快地了解和掌握在个别化教育计划(IEP)中考虑辅助技术的基本方法,本文介绍辅助技术适配模式中的SETT框架,根据IEP中考虑辅助技术的步骤,对考虑学生是否需要辅助技术,搜集学生信息,辅助技术评量、适配,形成辅助技术解决方案,将辅助技术纳入IEP以及执行辅助技术方案等步骤中涉及的方法与技术进行讨论.本文还介绍了保障评定适配品质的辅助技术服务品质指标(QIAT)以及进行辅助技术评定的IEP团队的人员构成.     

个体化康复训练对脑瘫患儿综合能力的影响

目的:观察个体化康复训练对脑瘫患儿综合能力的影响。方法:脑瘫患儿100例,分为2组各50例,均进行综合康复治疗,观察组根据规范化康复训练系统制定个体化训练计划,训练前后对2组患儿进行发育商、粗大运动功能评分、综合能力评分比较。结果:2组治疗3个月后,发育商、粗大运动功能及综合能力评分均较治疗前均有增加,观察组增加分值更高于对照组(P<0.05,0.01)。结论:根据规范化康复训练系统制定的个体化训练计划可全面提高脑瘫患儿的运动、智力等综合能力。     

Japanese version of The Cancer Genome Atlas,JCGA, established using fresh frozen tumors obtained from 5143 cancer patients

This study aimed to establish the Japanese Cancer Genome Atlas (JCGA) using data from fresh frozen tumor tissues obtained from 5143 Japanese cancer patients, including those with colorectal cancer (31.6%), lung cancer (16.5%), gastric cancer (10.8%) and other cancers (41.1%). The results are part of a single‐center study called “High‐tech Omics‐based Patient Evaluation” or “Project HOPE” conducted at the Shizuoka Cancer Center, Japan. All DNA samples and most RNA samples were analyzed using whole‐exome sequencing, cancer gene panel sequencing, fusion gene panel sequencing and microarray gene expression profiling, and the results were annotated using an analysis pipeline termed “Shizuoka Multi‐omics Analysis Protocol” developed in‐house. Somatic driver alterations were identified in 72.2% of samples in 362 genes (average, 2.3 driver events per sample). Actionable information on drugs that is applicable in the current clinical setting was associated with 11.3% of samples. When including those drugs that are used for investigative purposes, actionable information was assigned to 55.0% of samples. Germline analysis revealed pathogenic mutations in hereditary cancer genes in 9.2% of samples, among which 12.2% were confirmed as pathogenic mutations by confirmatory test. Pathogenic mutations associated with non–cancerous hereditary diseases were detected in 0.4% of samples. Tumor mutation burden (TMB) analysis revealed 5.4% of samples as having the hypermutator phenotype (TMB ≥ 20). Clonal hematopoiesis was observed in 8.4% of samples. Thus, the JCGA dataset and the analytical procedures constitute a fundamental resource for genomic medicine for Japanese cancer patients.     

肿瘤患者化疗药物相关单核苷酸多态性分布分析

目的探索我院肿瘤患者化疗药物相关单核苷酸多态性(SNPs)的分布特征,为临床药师开展以化疗药物相关SNPs为基础的肿瘤患者个体化用药指导提供参考。方法采用荧光原位杂交技术通过荧光标记的特异性探针检测化疗药物相关SNPs,回顾性分析北京大学肿瘤医院2016年4月~2018年12月肿瘤患者的化疗相关SNPs的分布特征。采用SPSS24.0软件统计相关基因位点的等位基因和基因型的频率分布差异,分析基因分布是否符合Hardy-Weinberg平衡。参照国外不同人群的基因型频率数据,探讨中国肿瘤患者化疗药物相关SNPs的分布特征。结果主要检测2554例肿瘤患者6大类化疗药物17个化疗药物相关基因位点,其中CYP2D6(100C>T)、ABCB1(2677T>G)不符合Hardy-Weinberg平衡,其余15个基因位点均符合Hardy-Weinberg平衡。DPD、CYP2D6、UGT1A1的SNPs与国外人群存在较大差异,与国内报道基本相符。结论中国肿瘤患者化疗药物相关SNPs分布有自身特点,临床药师应根据化疗药物相关SNPs提供个体化用药指导建议。基于药物基因组学的个体化用药,在参考PharmGKB等国际数据库的同时,国人的基因SNPs解读应结合国人的特点,不能完全参考国外人群数据库。     

Editor's choice: New concepts in the management of diffuse low-grade glioma: Proposal of a multistage and individualized therapeutic approach

Diffuse low-grade glioma grows, migrates along white matter tracts, and progresses to high-grade glioma. Rather than a “wait and see” policy, an aggressive attitude is now recommended, with early surgery as the first therapy. Intraoperative mapping, with maximal resection according to functional boundaries, is associated with a longer overall survival (OS) while minimizing morbidity. However, most studies have investigated the role of only one specific treatment (surgery, radiotherapy, chemotherapy) without taking a global view of managing the cumulative time while preserving quality of life (QoL) versus time to anaplastic transformation. Our aim is to switch towards a more holistic concept based upon the anticipation of a personalized and long-term multistage therapeutic approach, with online adaptation of the strategy over the years using feedback from clinical, radiological, and histomolecular monitoring. This dynamic strategy challenges the traditional approach by proposing earlier therapy, by repeating treatments, and by reversing the classical order of therapies (eg, neoadjuvant chemotherapy when maximal resection is impossible, no early radiotherapy) to improve OS and QoL. New individualized management strategies should deal with the interactions between the course of this chronic disease, reaction brain remapping, and oncofunctional modulation elicited by serial treatments. This philosophy supports a personalized, functional, and preventive neuro-oncology.