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Exploring free pregnancy associated plasma protein a (fPAPP-A) as a biomarker in early pregnancy 将游离妊娠相关血浆蛋白 a(fPAPP-A)作为孕早期生物标志物的探索
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-09-16 DOI: 10.1016/j.plabm.2024.e00428
Jesper Friis Petersen , Vilma Tiittanen , Saara Wittfooth , Ellen Løkkegaard , Lennart Jan Friis-Hansen

Objectives

In combined first trimester screening for Down syndrome, Pregnancy-Associated Plasma Protein A (PAPP-A) is pivotal. PAPP-A tests evaluate total PAPP-A, consisting of the biologically active free PAPP-A (fPAPP-A) and PAPP-A complexed with eosinophil major basic protein's proform (proMBP). While PAPP-A is well-researched, limited understanding persists regarding fPAPP-A's first trimester concentrations and diagnostic utility.

Design

and methods: PAPP-A and fPAPP-A levels were gauged in 602 serum samples at 2-week intervals (gestational weeks 4–14) from 159 women with delivery of a healthy neonate and 80 samples from 37 miscarriages. The final sample at the time of diagnosis from women who miscarried was included in analyses.

Results

During the first trimester, PAPP-A and fPAPP-A levels displayed significant and strong correlation (r = 0.94), with median values doubling weekly. Free PAPP-A constituted only 3.0 % of PAPP-A over gestational weeks. Low fPAPP-A linked to miscarriage (p < 0.001), maternal weight (p < 0.001), and smoking (p = 0.02). For miscarriage prediction fPAPP-A was equal to PAPP-A (area under the receiver operating characteristics curve 0.79 vs. 0.81, p = 0.44).

Conclusions

Investigating fPAPP-A presence and concentration directly in first trimester serum has not been done previously. This study report lower fPAPP-A values than anticipated from prior enzymatic studies of fPAPP-A. fPAPP-A was not superior to PAPP-A as a first trimester biomarker in this dataset.
目标在唐氏综合征的首胎联合筛查中,妊娠相关血浆蛋白 A (PAPP-A) 至关重要。PAPP-A 检测可评估总 PAPP-A,包括具有生物活性的游离 PAPP-A(fPAPP-A)和与嗜酸性粒细胞主要碱性蛋白原形(proMBP)复合物的 PAPP-A。虽然对 PAPP-A 的研究较多,但对 fPAPP-A 在妊娠头三个月的浓度和诊断作用的了解仍然有限:设计与方法:对 159 名分娩健康新生儿的妇女和 37 名流产妇女的 80 份血清样本中的 602 份血清样本进行了 PAPP-A 和 fPAPP-A 水平测定,每隔 2 周(孕周 4-14)测定一次。结果在妊娠头三个月,PAPP-A 和 fPAPP-A 水平显示出显著的强相关性(r = 0.94),中位值每周翻一番。游离 PAPP-A 仅占孕周 PAPP-A 的 3.0%。低 fPAPP-A 与流产(p < 0.001)、产妇体重(p < 0.001)和吸烟(p = 0.02)有关。在预测流产方面,fPAPP-A 与 PAPP-A(接收者操作特征曲线下面积 0.79 vs. 0.81,p = 0.44)相当。本研究报告的 fPAPP-A 值低于之前对 fPAPP-A 进行酶学研究的预期值。
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引用次数: 0
Evaluation of the EUROIMMUN automated chemiluminescence immunoassays for measurement of four core biomarkers for Alzheimer’s disease in cerebrospinal fluid 评估 EUROIMMUN 自动化学发光免疫测定法,用于测量脑脊液中阿尔茨海默病的四种核心生物标记物
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00425
Katharina Römpler , Philipp Arendt , Britta Brix , Viola Borchardt-Lohölter , Anette Schulz , Mandy Busse , Stefan Busse

Introduction

Robust immunoassays for quantification of Alzheimer's disease (AD)-specific biomarkers are required for routine diagnostics. We report analytical performance characteristics of four new chemiluminescence immunoassays (ChLIA, EUROIMMUN) running on closed, fully automated random-access instruments for quantification of Aβ1-40, Aβ1-42, tTau, and pTau(181) in human cerebrospinal fluid (CSF).

Methods

ChLIAs were validated according to the guidelines of the Clinical and Laboratory Standards Institute (CLSI). Optimal cut-offs for biomarkers and biomarker ratios were determined using samples from 219 AD patients and 220 patients with AD-related symptoms. For performance comparison, biomarker concentrations were measured in 110 diagnostic leftover samples using the ChLIAs and established Lumipulse G assays (Fujirebio).

Results

All ChLIAs met CLSI criteria. Overall agreement between assays was 89.0%–97.3 % with highly correlating results (Pearson's correlation coefficients: 0.82–0.99). Passing-Bablok regression analysis revealed systematic differences.

Discussion

EUROIMMUN ChLIAs showed good analytical performances and represent new valuable tools for diagnostics of AD.

导言:常规诊断需要可靠的免疫测定来量化阿尔茨海默病(AD)特异性生物标记物。我们报告了在封闭式全自动随机接入仪器上运行的四种新型化学发光免疫测定(ChLIA,EUROIMMUN)的分析性能特点,它们可用于定量检测人脑脊液(CSF)中的Aβ1-40、Aβ1-42、tTau和pTau(181)。使用 219 例 AD 患者和 220 例 AD 相关症状患者的样本确定了生物标记物和生物标记物比率的最佳临界值。为了进行性能比较,使用 ChLIA 和现有的 Lumipulse G 检测方法(Fujirebio)测量了 110 份诊断残留样本中的生物标记物浓度。各检测方法之间的总体一致性为 89.0%-97.3 %,结果高度相关(皮尔逊相关系数:0.82-0.99)。Passing-Bablok 回归分析显示存在系统性差异。
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引用次数: 0
Analytical performance evaluation of a new integrated clinical chemistry and immunoassay analyzer 新型集成临床化学和免疫测定分析仪的分析性能评估
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00427
Ulla Ruffing, Sabrina Mickeler, Michaela Kraft, Peter Findeisen

Background

Clinical laboratories perform a wide range of tests that are used by healthcare professionals to guide medical decision making. Use of automated analyzers in the clinical laboratory can improve patient care by not only reducing the turn-around-time (TAT) of results but also improving accuracy of the reported results by reducing human error. The aim of this study was to evaluate the performance characteristics of a new automated laboratory instrument, the Atellica® CI Analyzer, Model 1900, over a 3-month period in a European laboratory setting.

Methods

Analytical performance of 17 analytes (13 chemistry and four immunochemistry) was assessed by evaluating repeatability and within-laboratory precision using anonymized remnant serum samples. Method comparison studies were performed on the Atellica CI Analyzer and the Roche cobas® 6000.

Results

Excellent precision was observed with coefficients of variation (CVs) less than 2 % for repeatability and less than 3 % within-laboratory imprecision for most analytes. Comparison of select assays with the cobas 6000 system resulted in correlation coefficients ranging from 0.980 to 1.000.

Conclusion

This is the first reported evaluation of the Atellica CI Analyzer in a clinical laboratory setting. The strong analytical performance of the Atellica CI Analyzer demonstrates that this instrument is suitable for routine clinical use.

背景临床实验室进行各种检验,医护人员利用这些检验来指导医疗决策。在临床实验室中使用自动分析仪不仅能缩短结果的周转时间(TAT),还能通过减少人为错误提高报告结果的准确性,从而改善患者护理。本研究的目的是在欧洲实验室环境中对新型自动实验室仪器 Atellica® CI 分析仪(1900 型)的性能特点进行为期 3 个月的评估。方法使用匿名残留血清样本评估重复性和实验室内精确度,从而评估 17 种分析物(13 种化学和 4 种免疫化学)的分析性能。结果表明,大多数分析物的重复性变异系数(CV)小于2%,实验室内不精密度小于3%,具有极佳的精密度。将某些测定与 cobas 6000 系统进行比较,得出的相关系数从 0.980 到 1.000 不等。Atellica CI 分析仪强大的分析性能表明该仪器适合常规临床使用。
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引用次数: 0
An assessment of analytical performance using the six sigma scale in second-trimester maternal prenatal screening practices in China 使用六西格玛量表评估中国孕产妇第二胎产前筛查实践中的分析绩效
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00422
Jinming Zhang , Xingtong Chen , Jiaming Wu , Penghui Feng , Wei Wang , Kun Zhong , Shuai Yuan , Yuxuan Du , Chuanbao Zhang , Falin He

Objectives

We aimed to evaluate the analytical performance of second-trimester maternal serum screening in China, and to compare if there are differences in sigma levels across different methods and months.

Methods

A retrospective study was conducted to assess the analytical quality levels of laboratories by calculating the Sigma metrics with prenatal screening biomarkers: AFP, Total β-hCG, free β-hCG, uE3. Data from 591 laboratories were selected. Sigma metrics were computed using the formula: Sigma metrics(σ) = (%TEa - |%Bias|)/%CV. The Friedman test and Mann-Whitney test were used to compare differences across various methods and different months. The Hodges–Lehmann was used for determining 95 % confidence intervals of pseudo-medians.

Results

Only uE3 showed significant monthly variations in sigma calculations. However, around 8 % of laboratories across all four analytes demonstrated sigma levels both above 6 and below 3 in different months. Laboratories utilizing time-resolved fluorescence methods significantly outperformed those using chemiluminescence in sigma level. For AFP, the pseudo-median difference between these methods lies within a 95 % confidence interval of (−3.22, −1.93), while for uE3, it is at (−2.30, −1.40). Notably, the median sigma levels for all analytes reached the 4-sigma threshold, with free β-hCG even attaining the 6-sigma level.

Conclusion

With current standards, China's second-trimester maternal serum screening is of relatively high analytical quality, and variations in sigma levels exist across different months and methods.

目的 我们旨在评估中国第二胎孕产妇血清筛查的分析性能,并比较不同方法和月份的西格玛水平是否存在差异。方法 我们进行了一项回顾性研究,通过计算产前筛查生物标志物的西格玛指标来评估实验室的分析质量水平:AFP、总β-hCG、游离β-hCG、uE3。选取了 591 个实验室的数据。西格玛指标的计算公式为Sigma metrics(σ) = (%TEa - |%Bias|)/%CV。弗里德曼检验和曼-惠特尼检验用于比较不同方法和不同月份之间的差异。结果只有 uE3 在西格玛计算中显示出显著的月度差异。然而,在所有四种分析物中,约有 8% 的实验室在不同月份的西格玛水平高于 6 和低于 3。使用时间分辨荧光方法的实验室在西格玛水平上明显优于使用化学发光方法的实验室。就甲胎蛋白而言,这些方法之间的假中值差异在 95 % 置信区间(-3.22,-1.93)内,而就 uE3 而言,则在 95 % 置信区间(-2.30,-1.40)内。值得注意的是,所有分析物的中位数西格玛水平都达到了 4 西格玛阈值,游离β-hCG 甚至达到了 6 西格玛水平。
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引用次数: 0
Analytical performance of publicly dispensed glucometers in primary health care in a southern Brazilian city 巴西南部城市初级卫生保健中公共配发血糖仪的分析性能
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00421
Isabelle L. Silva, Flávia Martinello

Aims

This study aimed to assess the use of glucometers by patients and the analytical performance of glucometers provided by the primary care services.

Methods

The analytical performance of 48 glucometers Accu-Chek® Active, was assessed through quintuplicate analyses of one Roche and one PNCQ (National Quality Control Program) control sample at different concentrations; 31 were also evaluated by a single proficiency testing sample. The evaluation metrics included imprecision, bias, and total error and were measured according to quality specifications based on biological variation (QSBV). Glucometer users answered a questionnaire regarding their experience.

Results

Among the 48 glucometers evaluated with internal control samples, 17 met precision criteria at both control levels according to QSBV, while 24 met the criteria at only one control level. Of the 31 glucometers further evaluated through proficiency test, 11 met accuracy criteria according to QSBV, and only one device showed an unacceptable result. Out of these 31, only 15 demonstrated a total error within the acceptable maximum limits based on QSBV.

Conclusions

Overall, our findings showed that patients had a good understanding of glucometer usage and suggested that some glucometers should be replaced, as they sometimes failed to meet even the manufacturer’s acceptable variation limits, and/or did not meet QSBV.

本研究旨在评估患者使用血糖仪的情况以及基层医疗服务机构提供的血糖仪的分析性能。方法通过对不同浓度的一个罗氏和一个 PNCQ(国家质量控制计划)对照样本进行五次重复分析,评估了 48 台 Accu-Chek® Active 血糖仪的分析性能;还通过一个能力测试样本评估了 31 台血糖仪的分析性能。评估指标包括不精确度、偏差和总误差,并根据基于生物变异(QSBV)的质量规范进行测量。结果在使用内部对照样本进行评估的 48 台血糖仪中,17 台在两个对照水平上都符合 QSBV 的精度标准,24 台仅在一个对照水平上符合标准。通过能力验证进一步评估的 31 台血糖仪中,有 11 台符合 QSBV 的准确度标准,只有一台的结果不可接受。结论总体而言,我们的研究结果表明,患者对血糖仪的使用方法非常了解,但也建议更换一些血糖仪,因为这些血糖仪有时甚至达不到生产商规定的可接受误差范围,和/或不符合 QSBV 标准。
{"title":"Analytical performance of publicly dispensed glucometers in primary health care in a southern Brazilian city","authors":"Isabelle L. Silva,&nbsp;Flávia Martinello","doi":"10.1016/j.plabm.2024.e00421","DOIUrl":"10.1016/j.plabm.2024.e00421","url":null,"abstract":"<div><h3>Aims</h3><p>This study aimed to assess the use of glucometers by patients and the analytical performance of glucometers provided by the primary care services.</p></div><div><h3>Methods</h3><p>The analytical performance of 48 glucometers Accu-Chek® Active, was assessed through quintuplicate analyses of one Roche and one PNCQ (National Quality Control Program) control sample at different concentrations; 31 were also evaluated by a single proficiency testing sample. The evaluation metrics included imprecision, bias, and total error and were measured according to quality specifications based on biological variation (QSBV). Glucometer users answered a questionnaire regarding their experience.</p></div><div><h3>Results</h3><p>Among the 48 glucometers evaluated with internal control samples, 17 met precision criteria at both control levels according to QSBV, while 24 met the criteria at only one control level. Of the 31 glucometers further evaluated through proficiency test, 11 met accuracy criteria according to QSBV, and only one device showed an unacceptable result. Out of these 31, only 15 demonstrated a total error within the acceptable maximum limits based on QSBV.</p></div><div><h3>Conclusions</h3><p>Overall, our findings showed that patients had a good understanding of glucometer usage and suggested that some glucometers should be replaced, as they sometimes failed to meet even the manufacturer’s acceptable variation limits, and/or did not meet QSBV.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000672/pdfft?md5=4da41e980a7e2125105f74c43088cc49&pid=1-s2.0-S2352551724000672-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141846706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Analytical performances of a novel fluorescent immunoassay of anti-Müllerian hormone and establishment of the reference intervals in Chinese children 抗缪勒氏管激素新型荧光免疫测定在中国儿童中的分析性能及参考区间的确定
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00419
Li Li , Mingyi Li , Wenqian Zhu, Lisong Shen, Limin Jiang

Background

AMH is important in child growth and the concentrations change with age and gender. This study aimed to evaluate the performance of the Pylon AMH assays and establish pediatric reference intervals.

Methods

The experiments on imprecision, sensitivity, linearity, reportable range, interference and comparison were carried out to evaluate the analytical performance. The AMH reference ranges were calculated in 238 females and 346 males aged 0–18 years using robust methods.

Results

The repeatability and the within-laboratory imprecision CVs of the assay were 3.7 % and 6.4 % at 2.25 ng/mL, and 4.6 % and 6.4 % at 15.49 ng/mL, respectively. The sensitivity (LoB = 0.05 ng/mL, LoD = 0.1 ng/mL and LoQ = 0.3 ng/mL) was verified. The linearity was 0.1–19.55 ng/mL and report up to 391 ng/mL with 20x pre-dilution. There was no significant interference from hemoglobin (500 mg/dL), triglyceride (500 mg/dL), bilirubin (10 mg/dL), cholesterol (800 mg/dL) and biotin (3000 ng/mL). The AMH measured by the Pylon assays correlated to those measured by the Elecsys assays. In males, the AMH levels were high at birth (0 d-1 m: median 95.10 ng/mL) and increased to a peak (7 m-1y: median 158.80 ng/mL) before they decreased with age (15–18 y: median 6.31 ng/mL). In females, the AMH concentrations were low at birth (0 d-1 m: median 0.20 ng/mL) and increased with age (15–18 y: median 3.03 ng/mL).

Conclusion

The Pylon AMH assays showed good analytical performance and the AMH reference intervals in chinese children determined may provide a basis in clinical diagnosis and treatment of related diseases.

背景AMH对儿童生长非常重要,其浓度随年龄和性别而变化。本研究旨在评估 Pylon AMH 检测试剂盒的性能,并建立儿科参考区间。方法 对不精密度、灵敏度、线性度、可报告范围、干扰和比较进行了实验,以评估分析性能。结果测定的重复性和实验室内不精密度CV值在2.25 ng/mL时分别为3.7%和6.4%,在15.49 ng/mL时分别为4.6%和6.4%。灵敏度(LoB = 0.05 ng/mL,LoD = 0.1 ng/mL,LoQ = 0.3 ng/mL)得到验证。线性范围为 0.1-19.55 纳克/毫升,在 20 倍预稀释的情况下,线性范围可达 391 纳克/毫升。血红蛋白(500 毫克/分升)、甘油三酯(500 毫克/分升)、胆红素(10 毫克/分升)、胆固醇(800 毫克/分升)和生物素(3000 纳克/毫升)均无明显干扰。Pylon 分析法测得的 AMH 与 Elecsys 分析法测得的 AMH 相关。男性的 AMH 水平在出生时很高(0 d-1 m:中位数为 95.10 纳克/毫升),并上升到峰值(7 m-1y:中位数为 158.80 纳克/毫升),然后随着年龄的增长而下降(15-18 y:中位数为 6.31 纳克/毫升)。结论Pylon AMH测定显示了良好的分析性能,所测定的中国儿童AMH参考区间可为相关疾病的临床诊断和治疗提供依据。
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引用次数: 0
Accidental bufotoxin intoxication: Arenobufagin identification by liquid chromatography coupled to mass spectrometry 意外布福毒素中毒:液相色谱-质谱法鉴定阿伦布法金
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00424
Alessandro Bonari , Mauro Leucio Mattei , Giovanni Cappelli , Francesca Romano , Nicoletta Cini , Francesca Luceri , Donato Squillaci , Stefano Dugheri , Alessandra Fanelli , Nicola Mucci

Background: Since ancient times, poisoning, even serious poisoning, has been known to occur during nature walks. Intentional or unintentional ingestion of toxins of animal origin is one of the possible causes of poisoning. Bufadienolide poisoning is a critical case. This is because of its high potency and its ability to cross the blood-brain barrier. Due to the rarity of these poisonings in humans in Central Europe, their identification is often difficult. The following is a case report of a poisoning by toad eggs in an Italina child, that presented vertigo, fussiness and sleepiness. A method of toxin identification using the prince of pharmacotoxicology, liquid chromatography (LC) coupled with tandem mass spectrometry (MS/MS), and an innovative reasoning were used. This method can be applied to other poisoning cases.

背景:自古以来,人们就知道在大自然漫步时会发生中毒事件,甚至是严重中毒。有意或无意摄入动物源毒素是中毒的可能原因之一。Bufadienolide 中毒是一个严重的案例。这是因为它的毒性很强,而且能够穿过血脑屏障。由于此类中毒在中欧地区非常罕见,因此通常很难鉴别。以下是一例伊塔利纳儿童蟾蜍卵中毒的病例报告,中毒者表现为眩晕、烦躁和嗜睡。该病例采用了药理毒理学、液相色谱法(LC)和串联质谱法(MS/MS)的毒素鉴定方法,并进行了创新性推理。该方法可应用于其他中毒病例。
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引用次数: 0
A comparison of anti-cyclic citrullinated peptides (CCP3 and CCP3.1) autoantibody tests in rheumatoid arthritis 类风湿性关节炎患者的抗环瓜氨酸肽(CCP3 和 CCP3.1)自身抗体检测比较
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00420
Heather A. Nelson , Dipanwita Banerjee , Camille L. Novis , Kevin D. Deane , Marie L. Feser , Vijayalakshmi Nandakumar

Background

Anti-citrullinated protein antibodies (ACPA) are a specific serological biomarker used in the diagnosis of rheumatoid arthritis (RA). In clinical practice ACPA can be identified using immunoassays targeting synthetic cyclic citrullinated peptides (CCP). The 3rd generation anti-CCP IgG antibody (CCP3) offers improved sensitivity compared to the earlier versions. Recently, CCP3.1, capable of detecting both IgG and IgA antibodies, was introduced to enhance sensitivity, especially in patients with early RA.

Methods

We assessed serum CCP3.1 against CCP3 in 331 subjects undergoing RA panel serology, comprising 136 patients with RA and 195 patients without RA. Sera were tested for anti-CCP IgG (CCP3) and anti-CCP IgG/IgA (CCP3.1) antibodies. Clinical performance of these tests was compared at manufacturer-suggested cutoffs. A separate set of 81 patients with a diagnosis of RA by 2010 criteria and whose samples were obtained from within 1-year of RA diagnosis was similarly assessed to evaluate assay performance in an independent clinical RA cohort.

Results

Overall diagnostic accuracy was similar; CCP3 had an area under the curve (AUC) of 0.88, CCP3.1 had an AUC of 0.89. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for CCP3 were 79 %, 91 %, 86 %, and 86 %, respectively. For CCP3.1, sensitivity was 78 %, specificity 93 %, PPV 89 %, NPV 86 %. Both assays demonstrated excellent agreement; positive percent agreement of 94 % and negative percent agreement of 99 %.

Conclusion

Our findings indicate comparable diagnostic accuracy between CCP3 and CCP3.1 assays in these clinical cohorts.

背景抗瓜氨酸蛋白抗体(ACPA)是诊断类风湿性关节炎(RA)的一种特异性血清学生物标记物。在临床实践中,可以使用针对合成环瓜氨酸肽(CCP)的免疫测定来鉴定 ACPA。与早期版本相比,第三代抗 CCP IgG 抗体(CCP3)的灵敏度更高。最近又推出了能检测 IgG 和 IgA 抗体的 CCP3.1,以提高灵敏度,尤其是对早期 RA 患者的灵敏度。方法我们对 331 名接受 RA 血清学检查的受试者(包括 136 名 RA 患者和 195 名非 RA 患者)的血清 CCP3.1 抗 CCP3 进行了评估。我们对血清中的抗 CCP IgG(CCP3)和抗 CCP IgG/IgA (CCP3.1)抗体进行了检测。按照制造商建议的临界值比较了这些检测的临床表现。结果总体诊断准确性相似;CCP3的曲线下面积(AUC)为0.88,CCP3.1的曲线下面积(AUC)为0.89。CCP3 的灵敏度、特异性、阳性预测值 (PPV) 和阴性预测值 (NPV) 分别为 79%、91%、86% 和 86%。CCP3.1 的灵敏度为 78%,特异性为 93%,PPV 为 89%,NPV 为 86%。结论我们的研究结果表明,在这些临床队列中,CCP3 和 CCP3.1 检测方法的诊断准确性相当。
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引用次数: 0
Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever 将长线程测序用于家族性地中海热的常规分子诊断
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00423
X. Vanhoye, P. Mouty, S. Mouty, N. Bargues, N. Couprie, E. Fayolle, V. Géromel, M. Taoudi, L. Raymond, J.-F. Taly

Background

Long-read sequencing technology, widely used in research, is proving useful in clinical diagnosis, especially for infectious diseases. Despite recent advances, it hasn't been routinely applied to constitutional human diseases. Long-read sequencing detects intronic variants and phases variants, crucial for identifying recessive diseases.

Methods

We integrated long-read sequencing into the clinical diagnostic workflow for the MEFV gene, responsible for familial Mediterranean fever (FMF), using a Nanopore-based workflow. This involved long-range PCR amplification, native barcoding kit library preparation, GridION sequencing, and in-house bioinformatics. We compared this new workflow against our validated method using 39 patient samples and 3 samples from an external quality assessment scheme to ensure compliance with ISO15189 standards.

Results

Our evaluation demonstrated excellent performance, meeting ISO15189 requirements for reproducibility, repeatability, sensitivity, and specificity. Since October 2022, 150 patient samples were successfully analyzed with no failures. Among these samples, we identified 13 heterozygous carriers of likely pathogenic (LP) or pathogenic (P) variants, 1 patient with a homozygous LP/P variant in MEFV, and 4 patients with compound heterozygous variants.

Conclusion

This study represents the first integration of long-read sequencing for FMF clinical diagnosis, achieving 100 % sensitivity and specificity. Our findings highlight its potential to identify pathogenic variants without parental segregation analysis, offering faster, cost-effective, and accurate clinical diagnosis. This successful implementation lays the groundwork for future applications in other constitutional human diseases, advancing precision medicine.

背景长读取测序技术广泛应用于科研领域,并被证明可用于临床诊断,尤其是传染病的诊断。尽管最近取得了进展,但它尚未被常规应用于人类宪法疾病。我们利用基于 Nanopore 的工作流程,将长线程测序技术整合到了家族性地中海热(FMF)的 MEFV 基因的临床诊断工作流程中。这包括长程 PCR 扩增、原生条形码试剂盒文库制备、GridION 测序和内部生物信息学。我们使用 39 份患者样本和 3 份来自外部质量评估计划的样本,将这一新工作流程与我们的验证方法进行了比较,以确保符合 ISO15189 标准。自 2022 年 10 月以来,我们成功分析了 150 份患者样本,无一失败。在这些样本中,我们发现了13个可能致病(LP)或致病(P)变异的杂合子携带者,1个MEFV同源LP/P变异患者,以及4个复合杂合子变异患者。我们的研究结果突显了它在不进行亲本分离分析的情况下识别致病变异的潜力,从而提供更快、更经济、更准确的临床诊断。这项研究的成功实施为未来应用于其他人类遗传性疾病奠定了基础,推动了精准医学的发展。
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引用次数: 0
Longevity of Schistosoma mansoni circulating cathodic antigens in filter paper dried urine spots 滤纸干燥尿点中曼氏血吸虫循环阴性抗原的寿命
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00426
Abdallah Zacharia , Clemence Kinabo , Twilumba Makene , Huda Omary , George Ogweno , Faraja Lyamuya , Billy Ngasala

Objectives

This study aims to determine the temporal stability of Schistosoma mansoni circulating cathodic antigens (CCA) in filter paper-based dried urine spot (FP-DUS) samples under varying temperatures condition.

Methods

Urine from 20 children confirmed to have S. mansoni infection using Kato-Katz (at least 1 egg per gram of stool) and Schisto POC-CCA (2+ and 3+) methods were stored in form of FP-DUS and urine at room temperature (RT), 4 °C and −20 °C. Standard urine and FP-DUS Schisto POC-CCA methods were employed to detect CCA in urine and FP-DUS samples respectively, at weeks 4, 8 and 12. The results were reported as negative or positive (trace, 1+. 2+, and 3+).

Results

In FP-DUS samples, POC-CCA scores initially increase after 4–8 weeks, but then showed a decrease in intensity while still remaining positive, independent of temperature condition. From week 4 to week 12, at least 80 % of urine samples had POC-CCA score of 3+, independent of temperature condition. However, 2 urine samples at RT tested negative at weeks 8 and 12.

Conclusions

Despite the decrease in the intensity of test line in many samples, S. mansoni CCA remains stable and detectable in urine samples stored in FP-DUS.

方法用Kato-Katz(每克粪便中至少有1个虫卵)和Schisto POC-CCA(2+和3+)方法确认感染曼氏血吸虫的20名儿童的尿液以FP-DUS和尿液的形式分别储存在室温(RT)、4 °C和-20 °C。采用标准尿液和 FP-DUS Schisto POC-CCA 方法分别检测第 4、8 和 12 周尿液和 FP-DUS 样品中的 CCA。结果在 FP-DUS 样本中,POC-CCA 评分在 4-8 周后开始上升,但随后强度下降,但仍为阳性,与温度条件无关。从第 4 周到第 12 周,至少 80% 的尿样的 POC-CCA 评分为 3+,与温度条件无关。结论尽管许多样本中检测线的强度有所下降,但曼氏沙门氏菌 CCA 在 FP-DUS 中储存的尿液样本中仍然保持稳定并可检测到。
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引用次数: 0
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Practical Laboratory Medicine
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