经颅直流电刺激对精神分裂症伴迟发性运动障碍患者空间 工作记忆的影响

目的 探讨经颅直流电刺激（tDCS）对精神分裂症伴迟发性运动障碍（TD）患者空间工作记 忆的影响。方法 选取2017 年6 月至2018 年1 月来源于苏州市广济医院、苏州市社会福利总院、太仓市 精神卫生中心、南充市第六人民医院四家精神专科医院的38 例住院精神分裂症伴TD 患者，随机分为试 验组（21 例）和对照组（17 例）。研究期间，两组患者均接受常规药物治疗，试验组予以tDCS 治疗，采用的 电流为2 mA，刺激部位为左侧背外侧前额叶皮质及对侧眶上缘；对照组相应地予以伪tDCS 治疗。在基 线期、治疗15 次结束后及2 周后进行随访，采用剑桥神经心理自动化成套测试（CANTAB）中的空间工作 记忆（SWM）模块分别对两组患者进行认知测评。结果 在完成15 次治疗后，试验组SWM 指标分析中 的总错误数［31.00（28.50，49.00）］、平均第一次响应时间（4 盒子）［3 289.500（1 871.750，5 018.000）ms］、 平均第一次响应时间（6 盒子）［2 862.500（2 128.500，4 672.250）ms］、平均第一次响应时间（8 盒子） ［3 328.500（2 611.250，5 120.750）ms］与对照组比较，差异无统计学意义（P＞ 0.05）；试验组SWM 指标分 析中的策略分［19.00（17.00，20.00）］低于对照组［21.00（19.50，23.00）］，差异有统计学意义（P ＜ 0.05）。 在2 周后的随访中，两组的SWM 各指标比较，差异均无统计学意义（P＞ 0.05）。结论 tDCS 可能对精神 分裂症患者使用策略的能力有即刻改善效应。     

Fibroblast growth factor receptors in cancer: genetic alterations,diagnostics, therapeutic targets and mechanisms of resistance

Fibroblast growth factor receptors (FGFRs) are aberrantly activated through single-nucleotide variants, gene fusions and copy number amplifications in 5–10% of all human cancers, although this frequency increases to 10–30% in urothelial carcinoma and intrahepatic cholangiocarcinoma. We begin this review by highlighting the diversity of FGFR genomic alterations identified in human cancers and the current challenges associated with the development of clinical-grade molecular diagnostic tests to accurately detect these alterations in the tissue and blood of patients. The past decade has seen significant advancements in the development of FGFR-targeted therapies, which include selective, non-selective and covalent small-molecule inhibitors, as well as monoclonal antibodies against the receptors. We describe the expanding landscape of anti-FGFR therapies that are being assessed in early phase and randomised controlled clinical trials, such as erdafitinib and pemigatinib, which are approved by the Food and Drug Administration for the treatment of FGFR3-mutated urothelial carcinoma and FGFR2-fusion cholangiocarcinoma, respectively. However, despite initial sensitivity to FGFR inhibition, acquired drug resistance leading to cancer progression develops in most patients. This phenomenon underscores the need to clearly delineate tumour-intrinsic and tumour-extrinsic mechanisms of resistance to facilitate the development of second-generation FGFR inhibitors and novel treatment strategies beyond progression on targeted therapy.Subject terms: Cancer, Cancer     

LEOPARD综合征一家系PTPN11基因突变分析

【摘要】 目的 明确1个LEOPARD综合征家系的PTPN11基因突变。方法 对中国科学院大学宁波华美医院确诊的1例LEOPARD综合征先证者的家系进行现场调查。提取家系内4例患者、2例健康成员及与该家系无关的100例健康对照外周血标本。PCR扩增PTPN11基因所有外显子，使用Sanger测序法进行突变位点分析。结果 该家系3代14人，其中6人患病（男3例，女3例），符合常染色体显性遗传。患者皮损主要分布于面部、躯干和四肢，具有特殊面容及心血管系统异常。4例患者存在PTPN11基因的错义突变c.1632G＞T（p.R558L），导致第558位由精氨酸变为亮氨酸，该突变既往未曾报道。该家系2例健康成员及100例健康对照未发现PTPN11基因突变。结论 该LEOPARD综合征家系患者PTPN11基因13号外显子发生c.1632G＞T错义突变，可能是该家系患者发病的分子基础。     

心肺转流期间突发电力中断的体外循环应急处理1例:病例报告

1病例资料患者,女,52岁,体质量46 kg,身高147 cm,体表面积1.37 m²,择期手术下行"二尖瓣置换+三尖瓣成形术"。体外循环使用Stockert V型心肺机(下称S5)连续血气监测系统(Maquet-BMU40),笔记本电脑(IBM-X220)作为电子记录模块[4],上述设备主电源线连接至抗电涌保护插板(公牛,GN-H3053)持续供电,应用Fusion氧合器(MedtronicBB841)等耗材.     

Mental Health Staff Perceptions of Improvement Opportunities around COVID-19: A Mixed-Methods Analysis

Psychiatric Quarterly - While COVID-19 has had widespread impact on the way behavioral health services are delivered, very little research exists characterizing how providers have perceived these...     

Abnormal glucose tolerance in a pediatric cystic fibrosis cohort: Trends in clinical outcomes and associated factors in the preceding years

Background and aimsDeterioration of anthropometric and lung function parameters was shown to precede the onset of cystic fibrosis-related diabetes (CFRD) in adults. In children, studies have been conducted in small cohorts with relatively short observation period. Study objectives were to document the longitudinal trends of anthropometric, pulmonary, nutritional and metabolic parameters from cystic fibrosis (CF) diagnosis to the ascertainment of abnormal glucose tolerance and identify parameters associated with the incidence of such abnormalities in a pediatric CF cohort.Methods and resultsRetrospective cohort study of 281 children with CF. Longitudinal trends of anthropometric, lung function, nutritional and metabolic data were generated from CF diagnosis to the ascertainment of abnormal glucose tolerance defined as the presence of either impaired glucose tolerance (IGT), unconfirmed CFRD or CFRD. Cox models and Kaplan–Meier curves were used to identify factors associated with developing abnormal glucose tolerance.Forty-five percent of cohort had normal glucose tolerance (NGT), 27% IGT, 10% unconfirmed CFRD and 18% CFRD. Children who developed CFRD displayed lower height z-scores from a very early age. Conversely, HbA1c levels began to rise closer to CFRD ascertainment. Height z-scores (HR: 0.45; CI 95% [0.29–0.69]) and HbA1c (HR: 2.43; CI 95% [1.86–3.18]) in years preceding ascertainment were associated with the risk of developing CFRD.ConclusionChildren who developed CFRD display distinctive trends for height z-scores from a very early age, whereas HbA1c appears as a marker of established glucose metabolism derangements.