自制复合质控品在α、β-地中海贫血基因检测中的应用价值

目的探讨自制复合质控品在α、β-地中海贫血基因检测中的应用价值。方法将2017年9月至2018年12月检测出α、β-地中海贫血基因的阳性标本等比例混匀,分装,-70℃保存备用。试验前将自制复合质控品取出,室温复溶20 min,和待测标本一起检测,评价其DNA水平及纯度、稳定性、阳性预测值、阴性预测值。结果共检测126次,自制复合质控品DNA水平及纯度均满足试剂盒要求,阳性预测值为100.0%,阴性预测值为0,稳定性良好。结论自制复合质控品制备方法简单,成本低,稳定性良好,可用于α、β-地中海贫血基因检测室内质控。     

染色体病的分子诊断

染色体数目或者结构的异常是导致染色体病的物质基础。随着人类基因组计划(HGP)的成功完成以及结构基因组学、功能基因组学等学科的发展,高通量测序、PCR技术、生命科学领域的基因芯片技术与生物信息学技术相结合,使染色体病的研究日益深入,染色体病的检测方法也日益增多。新的分子诊断技术以其高灵敏度、高准确性和高通量的特点在染色体疾病的检验和诊断中应用越来越广泛,目前已逐步与传统的细胞遗传学分析相互结合、互为印证,共同实现对染色体疾病的实验室诊断。该文就染色体病的分子诊断技术及临床应用进行述评。     

儿童尿崩症病因分析及诊治体会

目的探讨儿童尿崩症的病因及临床特点。方法选择西安市儿童医院内分泌遗传代谢科收治的58例尿崩症患儿作为研究对象。分析患儿的临床资料、实验室检查结果及诊疗结果。结果尿崩症患儿需行禁水加压素试验、鞍区MRI扫描。中枢性尿崩症54例,肾性尿崩症4例。结论儿童尿崩症的病因以中枢性尿崩症居多。中枢性尿崩症由下丘脑-垂体病变所致,需完善检查明确病因,针对不同病因给予对症治疗,监测患儿生长发育及尿量,改善患儿生活质量。肾性尿崩症多为精氨酸加压素受体2(AVPR2)基因突变引起,临床可完善基因检测,提高其诊断准确度。     

Preamble to the proposal for a United Nations second assembly

Maralinga, South Australia was an important site in the United Kingdom nuclear weapons test programme. Seven bombs were exploded and a series of ‘safety’ tests carried out; the latter in particular disseminated appreciable amounts of uranium and plutonium over a wide area. A programme to clean up the test site over several years was instituted, with in-situ vitrification as a principal measure. The final report on the programme has now been published. However, both the programme and the Report are seriously flawed; this article provides criticisms of both.     

散发性基因变异性CJD2例报告及文献回顾

目的探讨散发性基因变异性CJD的临床表现及脑电图、核磁特征,为其早期诊断与治疗提供帮助。方法对2例经外周血进行基因检测而确诊的CJD患者的临床表现、脑电图、核磁等检查进行回顾性分析,并进行相关的文献回顾。结果在病例1中我们报道了1例71岁的女性,PRNP等位基因E196K变异,129密码子是蛋氨酸纯合子基因型。该患起病无特殊的症状,但是很快出现进行性加重的言语、记忆、认知和运动障碍。在整个病程中脑电图无周期性三相波。整个病程7个月。病例2中我们报道了1例76岁的男性,PRNP等位基因E196A变异,129密码子是蛋氨酸纯合子基因型。该患以精神症状起病,很快出现言语不能、震颤、肌张力增高。脑电图记录到典型的周期性三相波,核磁表现典型,示双额顶叶、左枕叶脑表见条片状稍高信号。结论散发性基因变异性CJD起病快,临床表现多样,脑电图与核磁检查有助于诊断,结合外周血基因检测可以明确诊断。     

Demystifying Analytical Approaches for Urine Drug Testing to Evaluate Medication Adherence in Chronic Pain Management

ABSTRACT

This comprehensive review of analytical methods used for urine drug testing for the support of pain management describes the methods, their strengths and limitations, and types of analyses used in clinical laboratories today. Specific applications to analysis of opioid levels are addressed. Qualitative versus quantitative testing, immunoassays, chromatographic methods, and spectrometry are discussed. The importance of proper urine sample collection and processing is addressed. Analytical explanations for unexpected results are described. This article describes the scientific basis for urine drug testing providing information which will allow clinicians to differentiate between valid and questionable claims for urine drug testing to monitor medication adherence among chronic pain patients.     

Determination of teliospore concentration as surface contaminants in Karnal bunt-infected seed samples of wheat using indirect ELISA

The study describes the indirect ELISA method for the determination of teliospore concentration in infected seed lots employing anti-teliospore antiserum generated against intact teliospores of Tilletia indica – a quarantined pathogen. The detection limit is as small as 5–1000 teliospores. The teliospores were extracted by washing seed either one or three times using detergent to ensure complete removal of teliospores present as surface contaminants in wheat samples with varying per cent of Karnal bunt infection. To ensure the concentration of teliospores within the sensitivity range, optimal volume of different extracted samples was determined. The ELISA reactivity was used to extrapolate the number of teliospores present in wheat samples. Forty-nine wheat samples received for certification based on per cent of infection were also subjected to indirect ELISA to determine the sensitivity of the protocol. The samples having 0.05–26% infection were having teliospore concentration in the range of 7×10² to 6.6×10⁴/1000 seeds.