Developing a Brief Neuropsychological Battery for Early Diagnosis of Cognitive Impairment

ObjectivesEarly diagnosis of cognitive impairment is increasingly emphasized in the literature to facilitate timely preventive interventions. Although bedside cognitive tests such as the Montreal Cognitive Assessment (MoCA) are widely used for such early diagnostic purposes, they may not have comparable performance to a full neuropsychological battery (FNB) in diagnosing early cognitive impairment. This study investigated whether a small subset of neuropsychological tests can be added on to MoCA to match its performance to that of the FNB in discriminating mild cognitive impairment and dementia (MCI/dementia) from normal cognition.DesignCross-sectional diagnostic study.SettingAlzheimer's Disease Centers across the United States.ParticipantsOlder participants (≥50 years) who completed MoCA and the FNB (N = 9187).MeasuresThe study sample was split into two: the derivation sample (n = 1837) was used to develop a brief neuropsychological battery that best discriminated MCI/dementia (using the best-subset approach with 10-fold cross-validation); while the validation sample (n = 7350) verified its actual performance in discriminating MCI/dementia.ResultsA 3-item neuropsychological battery was identified, comprising MoCA, Benson Complex Figure Recall, and Craft Story 21 Delayed Recall. It had excellent performance in discriminating MCI/dementia from normal cognition (area under the receiver operating characteristic curve [AUROC] 90.0%, 95% confidence interval [CI] 89.2%-90.7%), which was comparable to that of the FNB (AUROC 88.4%, 95% CI 87.6%-89.2%). By contrast, MoCA alone had significantly worse AUROC (86.9%, 95% CI 86.0%-87.7%) than that of the FNB.Conclusions/ImplicationsUsing rigorous methods, this study developed a brief neuropsychological battery that maintained the brevity of a bedside cognitive test, while rivaling the diagnostic performance of an FNB in early cognitive impairment. This brief battery offers a viable alternative when the FNB is needed but cannot be feasibly administered in nonspecialty clinics. It can have a wider health systems effect of improving patients’ access to accurate diagnosis in early cognitive impairment and facilitating timely interventions to delay the progression of cognitive impairment.     

Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high‐risk Chinese individuals

Identification of deleterious variants in hereditary breast and ovarian cancer (HBOC) susceptibility genes allows for increased clinical surveillance and early detection, and could predict the response to poly (ADP‐ribose) polymerase (PARP) inhibitor in patients with advanced ovarian carcinomas. To determine the prevalence and clinical prediction factors for HBOC syndrome, 882 selected individuals underwent multigene panel testing for HBOC risk assessment during the period from January 2015 to March 2018. Overall, 176 deleterious mutations were observed in 19.50% (n = 172) of individuals. Twenty‐six of 176 mutations could not be retrieved in related public databases and were considered to be novel. Among patients with ovarian cancer, 115 deleterious mutations were identified in 429 patients (48.6%) with significant enrichment for a family history of breast or ovarian cancer syndrome (P < .05). In the breast cancer subgroup, 31 deleterious mutations were identified in 261 patients. Besides BRCA1 (8; 25.8%) and BRCA2 (11; 35.5%), the most frequently occurring genes, an additional 12 deleterious mutations (38.7%) were found in seven other susceptibility genes. Higher mutation incidence (57.9%) was observed in subjects with histories of breast and ovarian cancer. Our results highlighted the genetic heterogeneity of HBOC and the efficiency of a multigene panel in carrying out risk assessment.     

中国优秀马拉松运动员ACE基因I/D多态性频率分布特征

通过分析中国马拉松运动员ACE基因I/D多态频率分布特征,探讨其作为杰出耐力基因标记的可行性。选择我国马拉松健将、国际健将级运动员26名作为马拉松运动员组,汉族学生216名作为对照组。对两组受试者进行ACE基因I/D多态性测定。结果显示:我国马拉松运动员组的等位基因频率和基因型频率与对照组比较无显著差异,其中15名国际健将中无一DD型纯合子,提示我国优秀马拉松运动员的纯合子DD型频率低下是其ACE基因多态频率分布的主要特征。     

铜绿假单胞菌噬菌体PaP3生物学特性的研究

目的测定铜绿假单胞菌噬菌体PaP3的最佳感染复数、一步生长曲线和吸附K值及交叉吸附K值等基本生物学特性。方法按照感染复数（MOI）分别为0．0001、0．001、0．01、0．1、1和10加入噬菌体纯培养液和宿主菌，充分裂解细菌后，测定噬菌体滴度；以MOI=10的比例加入噬菌体及宿主菌，进行一步生长实验；纯化PaP3颗粒，免疫家兔，获得抗血清，通过中和反应实验测定PaP3和其抗血清之间的吸附反应常数K值。同时，利用抗血清交叉中和试验确定本室分离的三株噬菌体之间的血清学关系。结果当MOI=0．001时PaP3感染其宿主菌产生的子代噬菌体滴度最高；根据一步生长实验结果绘制一步生长曲线；通过血清交叉中和反应得出不同的吸附常数。结论PaP3最佳感染复数为0．001，感染宿主菌的潜伏期是20min，爆发期是60min，平均爆发量约为31，其抗血清反应的吸附常数K值为262。     

子宫腔碘水加压法输卵管再通术的临床研究

目的寻求一种简便快速、安全有效、经济实用,将造影诊断与输卵管再通治疗结合起来的新方法。方法应用双腔球囊胶管插入子宫腔,充盈球囊堵塞子宫颈内口,用助推器注入碘海醇充盈子宫腔及输卵管,电视动态观察实时点片,完成造影诊断。当发现输卵管阻塞时,用手助推加压,逐渐增高宫腔内压力,使阻塞输卵管被造影剂压力钝性开通。结果本组2698例,插管成功2685例。其中,原发不孕806例,继发不孕1868例,其他24例,输卵管阻塞3082支(右1561支、左1521支),占实有输卵管的59%,加压开通率为77.8%(2397/3082);通而不畅343支(右175支、左168支),加压开通率:93.9%(322/343),出现静脉逆流27例。除局部疼痛及少量阴道流血外,无严重并发症病及病死率。结论该法简便快速,安全有效,经济实用,将造影诊断与输卵管再通相结合,深受患者欢迎,值得推广应用。     

积极主动为贫困人口服务--上海市北站医院平价病房的案例调查

目的:对上海市一所国有民营医院的平价病房进行案例调查,了解运行状况、经验及存在问题。方法:相关人员访谈和现场观察。结果:该院设立了14张床位的平价病房,收治对象是低保户、特困户及经济困难的外来务工人员。对医保病人和自费病人设定不同的减免优惠方案,包括减免50.0%的床位费和10.0%的护理、检查、治疗及手术等劳务费用(药费除外)。以收治急性病为主,住院时间原则上不超过2周。出院病人总费用的实际减免率约为6.0%￣10.0%。结论:创办平价病房的方向应予肯定。是民营机构委托管理医院的一种公益性(非营利性)的表现,对其他公立医疗机构具有促进作用。     

10对联体双胎分离术后的远期结果

背景／目的：从1978-2000年，有10对联体双胞胎成功接受了手术分离，结果14人存活。其中6对是因为他们的联体同胞死亡或濒临死亡而接受紧急分离手术。剩余的4对，每对至少一个同胞接受至少一次的急诊手术后，才接受联体分离手术。方法：对这一独特的队列进行包含6个项目的问卷调查。问题的设计是开放式的，为父母／家庭提供有关信息的最大机会。对每个家庭就相同的问题也进行了当面的问卷调查。医师询问了与身体健康和疾病相关的一些问题。而社会工作询问了与发育、教育、社会心理和家庭功能相关的问题。结果：前面提及的14人存活的双胞胎中，4人大学毕业，1人于1981年完成中学学业，剩余9人正在上学。14人在最初的手术后，还需要接受再次手术，尤其是需要矫正泌尿系统、畸形、神经外科和小儿外科的问题。结论：通过超声检查对联体双胎进行宫内诊断，可以使医师和胎儿父母在孕早期决定在终止妊娠时是进行双胎分离还是保全其中一个。这些病例报道通过描述14例手术存活的长期体格检查和心理学检查结果，为医师和父母在关键时刻做出决定提供了另外有助的依据。     

葡萄籽提取物(GSE)有效成分的分析

葡萄籽提取物（GSE）的多酚化合物包括原花青素和单体多酚，因此，采用Folin-Ciocalteu法测定葡萄籽提取物总多酚的质量分数，高效液相色谱法测定单体多酚质量分数，以总多酚质量分数减去单体多酚质量分数，即可代表样品中原花青素的质量分数。测定结果表明，自制GSE总多酚质量分数稍高于对照样品（天津尖峰天然产物研究开发公司产品），分别为90．5％和88．3％；没食子酸、儿茶素质量分数明显高于对照样品；而表儿茶素和表儿茶素没食子酸酯的质量分数稍低于对照样品。自制样品与对照样品的原花青素质量分数无显著差异，分别为74．6％和75．8％。     

丘脑底核电刺激治疗苍白球毁损术后的帕金森病(12例报告)

目的探讨帕金森病(Parkinson's disease,PD)苍白球腹后部毁损术(posteroventral pallidotomy,PVP)后再行丘脑底核(subthalamic nucleus,STN)脑深部电刺激术(deep brain stimulation,DBS)的可行性、术中电生理学特点和治疗结果。方法应用MR和微电极记录技术进行靶点定位,对12例单侧PVP术后症状再次加重的PD患者实施STN-DBS手术,其中4例行毁损灶对侧的STN-DBS,8例行双侧STN-DBS。结果STN-DBS对本组12例PD患者症状有不同程度的改善,双侧STN-DBS的效果尤为明显,术后3个月的UPDRS运动及ADL评分较术前明显减少(P<0．05或0．01),美多巴的用量明显减少(P<0．01),无明显术后并发症。术中电生理记录显示毁损灶同侧的细胞放电明显低于正常情况。结论曾行单侧PVP的PD患者如面临二次手术,可以选择DBS手术,以双侧STN的DBS效果最好,可减少药物用量。     

脊椎转移瘤增强减影MR成像

目的评估增强减影在脊椎转移瘤MR I中的应用价值。方法50例脊椎转移瘤病人进行MR I增强扫描,对比剂采用Gd-DTPA(0.1 mmol/kg),然后用T1W I增强后的图像与增强前的图像进行减影。通过对比噪声比(CNR)、信噪比(SNR)以及肿瘤边界清晰程度的比较,对MR I减影与否进行评估。结果MR I对比增强减影图像比传统的T1W I增强图像显示更清晰、更直观。所有脊椎转移瘤图像MR I减影的CNR和SNR比常规T1W I增强图像的CNR和SNR高。MR I减影CNR为155.05±24.73(x±SD),常规T1W I增强图像的CNR为11.11±14.26(t=35.65,Ρ<0.001)。MR I减影SNR为192.82±32.89(x±SD),常规T1W I增强图像的SNR为46.03±28.22(t=23.95,Ρ<0.001))。MR I对比增强减影图像比传统的T1W I增强图像能更好地显示脊椎转移瘤的边界和侵犯情况(2χ=29.34,Ρ<0.005)。结论MR I增强减影为探查和评估脊椎转移瘤提供了一个新的诊断方法。