串联质谱技术在临床检验中的应用进展

串联质谱技术以其高度的检测灵敏性和特异性，在医药领域得到广泛应用。它对样本的需求量小，预处理简单，大大提高了检测和临床诊断的效率。现对串联质谱技术在临床检验和药物毒理学方面的研究进展作一报道。     

液相色谱-串联质谱技术的临床应用进展

液相色谱-串联质谱技术(liquid chromatography-tandem mass spectrometry,LC-MS/MS)与免疫学方法相比具有特异性高、灵敏度高、多组分检测能力等方面的优势,已经成为临床检验领域重要的新技术之一。目前LC-MS/MS主要在激素检测、新生儿筛查、治疗药物监测、维生素D代谢物检测、蛋白质与多肽定量等项目应用比较成熟。虽然LC-MS/MS技术凭借其独特的优势,已经在临床检验领域占得一席之地,但也存在自动化及标准化程度低、仪器操作复杂等不足。自动化、标准化、蛋白质定量、高分辨质谱等将是今后LC-MS/MS在临检应用的主要发展方向。     

液相色谱串联质谱技术在罕见病诊断中的临床应用

罕见病具有种类多、发病率低、诊治困难等特点,近年来备受国家重视.常规实验室检测项目往往不能满足罕见病的诊断需求,液相色谱串联质谱(liquid chromatography-tandem mass spectrometry,LC-MS/MS)技术以其特异度高、可同时区分/定量多种代谢物等特点而广泛受到临床关注,正逐渐从...     

液相色谱与串联质谱在检验医学中的应用

1987年Bruins和Coney等发明了大气压离子化技术，由于该技术可在常温和常压下实现离子化过程，并对不易挥发、热不稳定性化合物，肽、蛋白质、核酸等生物大分子进行分析，当时即引起世界性轰动。1989年第一台商业化液相色谱串联质谱仪（LC-TMS）随即问世。尽管现在色谱和质谱技术已成为生物医学和蛋白组学研究的重要技术，但距临床检验应用仍有一段距离。     

质谱技术在检验医学中的应用现状和前景

质谱分析是一种测量离子质荷比(质量/电荷比)的分析方法。质谱仪的基本原理是使样本成分在离子化元件中发生电离,生成不同荷质比的带正电荷离子,经加速电场的作用,在质量分析器中利用电场或磁场分离不同质荷比的离子,从而获得按带电原子、分子或者分子碎片质荷比(或质量)大小排列的图谱。世界上第一台质谱仪于1912年由英国物理学家Joseph John Thomson研制成功,但直到20世     

液相色谱-串联质谱化学衍生技术在临床检验中的应用

在质谱检测过程中,有部分目标分析物由于离子化效率低、化学稳定性不佳等原因难以通过直接分析得到高质量的定量结果。为提升检测效率,利用化学衍生技术修饰其分子结构成为关键。此项技术涉及检验医学、有机化学、分离科学等多学科交叉,在方法学建立和评价方面对实验室人员的专业水平提出较高的要求。近年来,化学衍生技术已开始广泛应用于对维...     

液相色谱串联质谱技术在病原菌鉴定中的初步应用

摘要：目的 初步评估应用液相色谱串联质谱技术（ＬＣ ＭＳ ／ ＭＳ）对病原菌进行鉴定的可行性，为该技术临床应用提供实验依 据。方法 以全基因基础上的蛋白质组学库作为通用细菌鉴定数据库，用ＬＣ ＭＳ ／ ＭＳ技术对 ４１ 株标准菌株以及临床分离的 ２２ 株奈瑟菌和 ４６ 株大肠埃希菌进行鉴定。结果 串联质谱技术鉴定病原菌在种的水平鉴定准确率为 １００％。以 １３ 株标准 菌株样品稀释倍数和检测获得的肽段数量进行线性分析发现，二者之间具有很好的线性关系，相关系数均在 ０．９０ 以上。结论 ＬＣ ＭＳ ／ ＭＳ 有望成为病原菌鉴定检测新方法。     

串联质谱技术在新生儿遗传代谢性疾病筛查中的临床应用分析

目的在新生儿遗传代谢性疾病筛查中应用串联质谱技术,并分析其临床应用效果。方法在2018年2月-2019年2月间,选取在我院进行串联质谱技术筛查的5548例新生儿作为分析对象。结果5548例新生儿中具有41例可疑阳性新生儿,概率为0.74%,1年后确诊病情为高瓜氨酸血症、甲基丙二酸血症、尿素循环障碍、异戊酸血症、脂肪酸代谢异常的例数为1例、5例、3例、2例、4例。15例患儿及时确诊病情,并及时得到有效的治疗干预。结论在新生儿遗传代谢性疾病筛查中应用串联质谱技术,为遗传代谢性疾病的诊断提供参考,应用效果显著,值得在临床中推广应用。     

液相色谱串联质谱技术平台在临床代谢组学研究中的应用

代谢组学是研究生物体内源性代谢物质的整体及其随内因和外因变化的科学分支,是系统生物学的一个重要组成部分.代谢组学是继基因组学、蛋白组学之后又一热点学科.本文着重介绍液相串联质谱和其统计分析软件在代谢组学中的应用,和目前临床生物标志物发现上取得的成果.     

液相色谱串联质谱在检验医学中的应用

尽管色谱和质谱技术已经成为生物医学中的重要技术,但是其在临床实验室中的应用仍然比较少,一般只在少数专业实验室中进行。这是因为与现在普遍应用的临床化学和免疫学分析方法相比,这些技术要求非常熟练的操作,而且经常会出现复杂的故障。随着液相色谱串联质谱(liquid chromatography-tandem mass spectrometry,LC-TMS)技术的出现,该技术在临床检验医学工作中的应用不断扩展。1液相色谱—质谱(liquid chrematography-mass spectrometry,LC-MS)70年代后期及80年代早期HPLC技术的发展,推动了质谱技术的发展。然而,LC-MS的临床应用仍然…     

Tandem mass spectrometry in the clinical chemistry laboratory

Tandem mass spectrometry is becoming an increasingly important analytical technology in the clinical laboratory environment. Applications in toxicology and therapeutic drug monitoring have opened the door for tandem mass spectrometry and now we are seeing a vast array of new applications being developed. It has been the combination of tandem mass spectrometry with sample introduction techniques employing atmospheric pressure ionization that has enabled this technology to be readily implemented in the clinical laboratory. Although its major research applications started with pharmacology and proteomics, tandem mass spectrometry is being used for a great variety of analyses from steroids to catecholamines to peptides. As with chromatographic methods, tandem mass spectrometry is most cost effective when groups of compounds need to be measured simultaneously. However as the price/performance of this technology continues to improve, it will become even more widely utilized for clinical laboratory applications.     

Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects

Newborn screening started in the 1960s for the purpose of identifying phenylketonuric patients to begin early intervention and to prevent mental retardation in these patients. Soon thereafter, screening programs expanded to include additional genetic disorders added individually one at a time. In the 1980s, tandem mass spectrometry (MS/MS) was introduced in clinical laboratories, and in the 1990s, the technique was used for newborn screening. Unlike measuring one analyte at a time, MS/MS allows measurement of >40 analytes, in a few minutes with the use of a single assay. Currently, MS/MS is being used for the identification of several amino acid, organic acid and fatty acid disorders. Several states in the United States and many other countries are using MS/MS in newborn screening. However, there is a significant disparity among different newborn screening programs for disorders being screened by MS/MS and many other challenges are faced by the expanded newborn screening. It is anticipated that in the future the use of MS/MS in newborn screening will expand both at the analyte and geographic levels. Clinicians and laboratory scientists should become familiar with MS/MS, disorders being screened in their patients' population and the future of this emerging technology.     

衍生化串联质谱检测55种酰基肉碱方法的建立及其临床应用

目的 建立衍生化串联质谱检测人体中55种酰基肉碱的方法,考察该方法的影响因素及其在西部地区新生儿遗传代谢性病筛查中的应用和意义,为其有效防治提供科学的依据.方法 利用衍生化串联质谱法分析比较2869例出生3 d至1岁婴幼儿的干血滤纸片.采足跟血于空白采血滤纸上,完全渗透.用已知水平的酰基肉碱同位素内标液萃取干血滤纸片中...     

Performance characteristics of a novel tandem mass spectrometry assay for serum testosterone

BACKGROUND: Commercial immunoassays for testosterone (Te) may give inaccurate results for samples from women and children, leading to misdiagnosis and inappropriate treatment. We developed a sensitive and specific tandem mass spectrometric assay for measurement of Te at the concentrations encountered in women and children. METHODS: Te was extracted with methyl tert-butyl ether from 100 microL of serum or plasma, derivatized to form an oxime, and reextracted by solid-phase extraction. Instrumental analysis was performed on an API 4000 HPLC tandem mass spectrometer in the multiple-reaction monitoring (MRM) mode. The MRM transitions (m/z) were 304-->124 and 304-->112 for Te and 307-->124 and 307-->112 for d3-Te. RESULTS: Within- and between-run CVs were <12% and 7.9%, respectively. The limit of quantification was 0.0346 nmol/L (1 ng/dL). Reference intervals for sex hormone-binding globulin and total, free, and bioavailable Te were established for children of Tanner stages 1 through 5 and adult males and females. CONCLUSIONS: The sensitivity and specificity of the method are adequate for analysis of Te in samples from women and children. The method requires small sample volumes, has adequate precision, and is not subject to interferences.     

非衍生化串联质谱法检测酰基肉碱方法的应用

目的 建立非衍生化串联质谱检测酰基肉碱的方法,以便用于有机酸和脂肪酸代谢病的检测和筛查.方法 使用含13种稳定同位素标记的酰基肉碱内标准品的溶剂萃取滤纸干血片中的游离肉碱和酰基肉碱,串联质谱仪直接进样,检测游离肉碱(CO)、乙酰基肉碱(C2)、丙酰基肉碱(C3)、丁酰基肉碱(C4)、异戊酰基肉碱(CS)、戊二酰基肉碱(...     

Liquid chromatography tandem mass spectrometry assay for fast and sensitive quantification of estrone-sulfate

BackgroundThe circulating pool of estrone-sulfate is considered as a “reservoir” of slowly-metabolized estrogen that can be exploited for assessing overall individual estrogenicity. The aim of this study was to develop a rapid and sensitive liquid chromatography–tandem mass spectrometry assay for the determination of estrone-sulfate, suitable for routine clinical investigations.MethodsThe proposed assay is based on a simple protein precipitation procedure and on a fast measurement with a triple–quadrupole mass spectrometer operating in negative ion mode and in multiple reaction monitoring. The method was assessed for intra- and inter-day precision, accuracy, recovery, and clinical suitability. A comparison with available radioimmunoassay was also performed.ResultsThe LC–MS/MS method is able to detect estrone-sulfate concentrations ≤1 pg/mL and has a low limit of quantification of 7.8 pg/mL. Intra- and inter-day precision and accuracy were less than 10.5% and 5.0% respectively. The recovery was in the range of 93%–110%. When compared with radioimmunoassay the method resulted more accurate and therefore more suitable for quantifying the estrone-sulfate in different clinical settings, including patients treated with aromatase inhibitors.ConclusionsThe proposed LC–MS/MS method represents a convincing alternative to the immunoassay for a fast, cost-effective and reliable measurement of estrone-sulfate in routine clinical investigations and in large epidemiological studies. It may contribute in shedding a new light on the diagnostic value of estrone-sulfate in normal and pathological conditions.     

Liquid chromatography tandem mass spectrometry for analysis of steroids in clinical laboratories

Liquid chromatography tandem mass spectrometry is one of the most specific techniques available in clinical laboratories. In the past, immunoassays were the primary methodology for analysis of steroids in biological samples because they are rapid and easy to perform. However, these methods were shown to suffer from the lack of specificity for measuring many of the diagnostically important steroids. LC-MS/MS overcomes many of the limitations of immunoassays, enhances diagnostic utility of the testing, and expands diagnostic capabilities in endocrinology. In addition to the superior quality of the measurements, LC-MS/MS allows high throughput testing using small sample volume with minimal sample preparation, and frees the laboratory from dependence on suppliers of assay specific reagents. LC-MS/MS is being widely employed for routine measurement of steroids, and the methodology plays an important role in the standardization and harmonization of measurements among clinical laboratories.