Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication

The clinical significance of Xp22.31 microduplication is controversial as it is reported in subjects with developmental delay (DD), their unaffected relatives and unrelated controls. We performed multifaceted studies in a family of a boy with hypotonia, dysmorphic features and DD who carried a 600?Kb Xp22.31 microduplication (7515787-8123310bp, hg19) containing two genes, VCX and PNPLA4. The duplication was transmitted from his cognitively normal maternal grandfather.We found no evidence of the duplication causing the proband's DD and congenital anomalies based on unaltered expression of PNPLA4 in the proband and his mother in comparison to controls and preferential activation of the paternal chromosome X with Xp22.31 duplication in proband's mother. However, a de novo, previously reported deleterious, missense mutation in Pur-alpha gene (PURA) (5q31.2), with a role in neuronal differentiation was detected in the proband by exome sequencing.We propose that the variability in the phenotype in carriers of Xp22.31 microduplication can be due to a second and more deleterious genetic mutation in more severely affected carriers. Widespread use of whole genome next generation sequencing in families with Xp22.31 CNV could help identify such cases.     

湖南省2012—2017年学生肺结核登记情况及流行特征

目的分析湖南省学生肺结核患者登记情况,了解流行特征,为完善全省学校结核防治策略提供依据。方法利用2012-2017年中国结核病信息管理系统中登记的资料,统计分析湖南省学生结核病患者登记率及其流行特征。结果2012-2017年湖南省发现学生肺结核患者7 940例,登记发病率为13.23/10万,涂阳肺结核患者2 203例,登记发病率为3.67/10万。2012-2017年学生活动性肺结核登记发病率比较,差异有统计学意义（χ2=80.079,P<0.001）;2012-2017年学生涂阳肺结核登记发病率比较,差异有统计学意义（χ2=112.213,P<0.001）。二季度学生肺结核登记人数最多（占32.2%）,以男性为主（占60.8%）,年龄以15～19岁为主（占61.8%）。2012-2017年各市州学生肺结核登记情况比较,差异有统计学意义（χ2=320.432,P<0.001）,累计登记总数居前三位的分别是长沙市、湘西州、衡阳市。2012-2017年登记学生肺结核患者来源以转诊为主（占38.8%）,99.8%患者接受抗结核治疗,诊断治疗以涂阴患者、非重症、非耐药、初治患者为主,分别占67.9%、95.2%、99.5%、99.3%。结论应加强学校结核病防治工作,加强对高中和大学入学新生的结核病筛查,定期开展学校结核病知识的宣传,提高学校结核病防治的意识。     

穴位埋线治疗寒热错杂型功能性消化不良临床研究

目的:观察穴位埋线治疗寒热错杂型功能性消化不良(Functional dyspepsia,FD)的临床疗效。方法:将120例符合FD诊断标准的患者随机分西药组、中药组和治疗组,每组各40例。西药组口服莫沙必利分散片,中药组口服半夏泻心汤,治疗组给予穴位埋线疗法治疗。观察各组患者的临床疗效,比较各组患者治疗前后症状积分、胃电节律的变化和胃肠激素变化情况。结果:西药组有效率为82.5%,中药组有效率为92.5%,治疗组有效率为97.5%,各组之间比较,差异具有统计学意义(P0.05)。各组患者治疗后症状积分均低于治疗前,且中药组低于西药组,治疗组低于中药组,各组之间比较,差异具有统计学意义(P0.05)。治疗后,治疗组可显著提高胃电主频率、电幅值及减低胃电节律紊乱系数,与其他两组比较,差异均有统计学意义(P0.05)。治疗后,治疗组显著提高患者血浆胃动素(motilin,MTL)、血清胃泌素(gastrin,GAS)水平;降低患者胆囊收缩素(Cholecystokinin,CCK)成分及血管活性肠肽(Vasoactiveintestinalpolypeptide,VIP),与其他两组比较,差异均有统计学意义(P0.05)。结论:穴位埋线治疗寒热错杂型FD临床疗效确切,可显著促进胃肠蠕动、提高胃肠动力、调节胃电图及其胃肠激素。     

从麻黄用量揣度仲景表里用药心法

麻黄汤证纯属表寒;大青龙汤证除有表寒外,尚有里热、烦躁。而麻黄汤方药纯以麻黄、桂枝、杏仁、甘草解表宣肺;大青龙汤方药在麻黄、桂枝、杏仁、甘草、生姜、大枣解表宣肺、辛散和营的基础上,尚有石膏清里热、除烦躁,且方中石膏是一变量。仲景之麻黄汤、桂枝汤,虚实各有偏重,虚实的掌握也相当科学,基本达到了比例、量化的水平,如桂枝麻黄各半汤、桂枝二麻黄一汤。而单纯解表、解表清里之麻黄汤、大青龙汤,层次递进分明。解表时分虚实,由表及里又是一个表里渐进、表里参差分明的过程。方药有其固有的作用,但用之于人,药物的疗效如何,除取决于组方中药物之间的相互作用、药物剂型、给药途径、生物利用度等,方药的剂量尤是一重要环节,而药物的剂量尤和机体因素密切相关,如何全面的、辨证的、动态的把握经方用量,无疑是安全、有效使用经方的重要内容。故而,从经方主药用量的变化揣度仲景用药心法实有裨益。     

UPLC同时测定秦皮配方颗粒中7种成分

目的:建立UPLC同时测定秦皮配方颗粒中7种成分(秦皮甲素、毛柳苷、秦皮乙素、丁香苷、秦皮苷、秦皮素和东莨菪内酯)的方法,比较不同厂家及批次秦皮配方颗粒中7种成分含量的差异,为秦皮配方颗粒的科学质量控制提供依据。方法:采用Waters超高效液相色谱仪,Waters ACQUITY UPLC BEH C_(18)色谱柱(2.1 mm×50 mm,1.7μm),以甲醇(A)-0.1%磷酸水溶液(B)为流动相,梯度洗脱(0~1 min,5%~10%A;1~10 min,10%~12%A),流速0.4 m L·min~(-1),进样量2μL,柱温38℃,检测波长220 nm。结果:色谱峰纯度结果表明方法专属性良好。秦皮甲素、毛柳苷、秦皮乙素、丁香苷、秦皮苷、秦皮素和东莨菪内酯分别在各自范围内峰面积与浓度呈良好的线性关系;平均回收率分别为100.0%(RSD 2.0%),99.5%(RSD2.1%),99.9%(RSD 1.5%),99.7%(RSD 2.2%),99.4%(RSD 1.4%),100.8%(RSD 1.8%),99.4%(RSD 2.6%)。结论:该方法简便、准确,适用于秦皮配方颗粒中7种成分的同时定量测定,分析时间明显缩短,并对秦皮配方颗粒中除秦皮甲素和秦皮乙素之外的多种成分首次进行了定量测定,不同厂家及批次的秦皮配方颗粒主要成分含量存在一定的差异。     

健肝颗粒Ⅱ方联合恩替卡韦对HBeAg阳性慢性乙型病毒性肝炎患者外周血T淋巴细胞亚群的影响

目的:观察健肝颗粒Ⅱ方联合恩替卡韦对HBe Ag阳性慢性乙型肝炎(CHB)患者外周血T淋巴细胞亚群的影响。方法:将HBe Ag阳性CHB患者300例随机分为对照组和治疗组各150例,治疗组采用健肝颗粒Ⅱ方联合恩替卡韦治疗,对照组单用恩替卡韦治疗。观察比较2组治疗前及治疗12周、24周、52周外周血T淋巴细胞亚群的变化。结果:治疗前2组CD3+、CD4~+、CD8~+T细胞数及CD4~+/CD8~+比值比较,差异无统计学意义(P0.05);治疗组CD3+、CD4~+、CD8~+T细胞数及CD4~+/CD8~+比值从治疗12周起及其后各时间点较治疗前升高,差异具有统计学意义(P0.01);对照组CD3+、CD4~+、CD8~+T细胞数及CD4~+/CD8~+比值从治疗24周起及其后各时间点较治疗前升高,差异具有统计学意义(P0.05);治疗组各指标在各对应时间点的升高幅度均大于对照组,差异具有统计学意义(P0.05)。结论:健肝颗粒Ⅱ方联合恩替卡韦治疗HBe Ag阳性CHB可提高患者外周血CD3+、CD4~+、CD8~+T细胞计数及CD4~+/CD8~+比值,提高患者细胞免疫功能,其疗效优于单用恩替卡韦。     

龙胆泻肝汤合溃疡散治疗溃疡性结肠炎临床观察

目的观察龙胆泻肝汤联合溃疡散治疗溃疡性结肠炎的临床疗效。方法将120例溃疡性结肠炎患者随机分为两组。对照组采用溃疡散纳肛;治疗组在对照组治疗基础上加用龙胆泻肝汤口服。对两组患者的临床疗效及治疗后两组C-反应蛋白水平进行比较。结果总有效率治疗组(93.3%)明显高于对照组(70.0%),差异具有统计学意义(P0.05);治疗后治疗组C-反应蛋白水平低于对照组(P0.05)。结论龙胆泻肝汤联合溃疡散治疗溃疡性结肠炎,能有效降低机体C-反应蛋白水平,疗效显著。     

Using NHANES oral health examination protocols as part of an esophageal cancer screening study conducted in a high-risk region of China

Background

The oral health status of rural residents in the People's Republic of China has not been extensively studied and the relationship between poor oral health and esophageal cancer (EC) is unclear. We aim to report the oral health status of adults participating in an EC screening study conducted in a rural high-risk EC area of China and to explore the relationship between oral health and esophageal dysplasia.

Methods

National Health and Nutrition Examination Survey (NHANES) oral health examination procedures and the Modified Gingival Index (MGI) were used in a clinical study designed to examine risk factors for esophageal cancer and to test a new esophageal cytology sampling device. This study was conducted in three rural villages in China with high rates of EC in 2002 and was a collaborative effort involving investigators from the National Institutes of Health and the Cancer Institute of the Chinese Academy of Medical Sciences.

Results

Nearly 17% of the study participants aged 40–67 years old were edentulous. Overall, the mean number of adjusted missing teeth (including third molars and retained dental roots) was 13.8 and 35% had 7 contacts or less. Women were more likely to experience greater tooth loss than men. The average age at the time of first tooth loss for those with no posterior functional contacts was approximately 41 years for men and 36 years for women. The mean DMFT (decayed, missing, and filled teeth) score for the study population was 8.5. Older persons, females, and individuals having lower educational attainment had higher DMFT scores. The prevalence of periodontal disease (defined as at least one site with 3 mm of attachment loss and 4 mm of pocket depth) was 44.7%, and 36.7% of the study participants had at least one site with 6 mm or more of attachment loss. Results from a parsimonious multivariate model indicate that participants with poor oral health wemore likely to have esophageal dysplasia (OR = 1.59; 95% CI 1.06, 2.39).

Conclusion

This report describes the first use of NHANES oral health protocols employed in a clinical study conducted outside of the United States. The extent and severity of poor oral health in this Chinese study group may be an important health problem and contributing factor to the prevalence of EC.