Practical Laboratory Medicine最新文献_第9页

Assay precision, 99th percentile reference value and proportion of detected healthy european adults for VIDAS® high-sensitive troponin I VIDAS®高敏感肌钙蛋白I的检测精度、99百分位参考值和检测到的健康欧洲成年人比例。

IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY

Practical Laboratory Medicine

Pub Date : 2024-11-01 Epub Date: 2024-11-29 DOI: 10.1016/j.plabm.2024.e00441

Nathalie Auberger , Isabelle Coin , Laure Marillet , Frédérique Raymond , Sandrine Michel-Busseret , Pierre-Géraud Claret , Camille Pease

Introduction/objectives

Following the IFCC (The International Federation of Clinical Chemistry and Laboratory Medicine) guidelines concerning high-sensitivity cardiac troponin assays, we performed an assessment of the VIDAS® High-Sensitive Troponin I (TNHS) assay. The test was evaluated on its capacity to detect at least 50 % of healthy individuals and checked that the coefficient of variation was less than 10 % at the 99th percentile.

Methods

High-sensitivity performance was assessed by examining the limits of detection, the determination of the 99th percentile value, the evaluated imprecision at said value and the detectable results above limit of detection (LoD) in a cohort of healthy European individuals. The capacity of detection on a healthy population of VIDAS® TNHS was validated on a total of 808 plasma samples.

Results

One thousand six hundred and nineteen values (888 values for male samples and 731 values for female samples) were included in the analysis. The total imprecision of VIDAS® High-Sensitive Troponin I assay at the 99th percentile was 5.2 %, and 57.4 % of healthy individuals had troponin I values exceeding the LoD. Since the test detected more than 50 % of healthy individuals and had a coefficient of variation less than 10 % at the 99th percentile, it met the criteria of high-sensitivity cardiac troponin assays.

Conclusion

VIDAS® High-Sensitive Troponin I assay is a high-sensitivity cardiac troponin assays meeting the definition provided by IFCC guidelines.

简介/目的：根据IFCC（国际临床化学和检验医学联合会）关于高灵敏度心肌肌钙蛋白检测的指南，我们对VIDAS®高灵敏度肌钙蛋白I （TNHS）检测进行了评估。评估了该测试至少检测50%健康个体的能力，并在第99个百分位数检查变异系数小于10%。方法：通过检查检测限、测定第99百分位值、在该值处的评价不精确度和检测结果高于检测限（LoD）对欧洲健康人群进行高灵敏度评价。在总共808份血浆样本上验证了VIDAS®TNHS在健康人群中的检测能力。结果：共纳入1619个值，其中男性样本888个，女性样本731个。VIDAS®高敏感肌钙蛋白I检测在第99百分位的总不精确性为5.2%，57.4%的健康个体的肌钙蛋白I值超过LoD。由于该测试检测到超过50%的健康个体，并且在第99百分位数的变异系数小于10%，因此它符合高灵敏度心肌肌钙蛋白检测的标准。结论：VIDAS®高灵敏度肌钙蛋白I检测是一种高灵敏度心肌肌钙蛋白检测，符合IFCC指南提供的定义。

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引用次数: 0

Corrigendum to “Unified calibration of D-dimer can improve the uniformity of different detection systems” [Practical Laboratory Medicine 40 (2024) e00413] 对 "统一校准 D-二聚体可提高不同检测系统的一致性 "的更正 [Practical Laboratory Medicine 40 (2024) e00413]。

IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY

Practical Laboratory Medicine

Pub Date : 2024-11-01 Epub Date: 2024-11-29 DOI: 10.1016/j.plabm.2024.e00442

Kun Wang , Xinwei Zang , Wenjie Zhang , Xiangyu Cao , Huiru Zhao , Chunyan Li , Cuiying Liang , Jun Wu

引用次数: 0

The measurement of immunosuppressive drugs by mass spectrometry and immunoassay in a South African transplant setting 在南非移植环境中通过质谱法和免疫测定法测量免疫抑制药物

IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY

Practical Laboratory Medicine

Pub Date : 2024-11-01 Epub Date: 2024-11-06 DOI: 10.1016/j.plabm.2024.e00440

Amy Strydom, Doreen Jacob, Taryn Pillay, Refeletse Malahlela, Sean Currin

Objectives

Liquid chromatography tandem mass spectrometry (LC-MS/MS) is the gold standard for measurement of immunosuppressive drugs (ISDs), but is technically demanding and less accessible in resource-limited countries. Immunoassays can also measure ISD concentrations, but may be limited by cross-reactivity. We evaluated the performance of the Roche electrochemiluminescence immunoassay (ECLIA) for cyclosporine, everolimus and sirolimus against LC-MS/MS in an African population for the first time.

Methods

Bias for ECLIA was estimated by comparing ECLIA-measured ISD concentrations to those obtained by LC-MS/MS in 42, 43 and 47 patient samples for cyclosporine, everolimus and sirolimus, respectively. Precision was assessed by performing replicate measurements of quality control materials.

Results

Deming regression analysis for all ISDs showed strong correlation between ECLIA and LC-MS/MS with a Pearson's r of >0.94. The slopes for cyclosporine, everolimus and sirolimus were 0.94 [95 % CI: 0.87–1.03], 1.35 [95 % CI: 1.23–1.44] and 0.96 [95 % CI: 0.85–1.15] with y-intercepts of 31.60 μg/L [95 % CI: 2.02–57.63], 0.23 μg/L [95 % CI: 0.21 – 0.72] and 2.61 μg/L [95 % CI: 1.30–3.56], respectively. Difference plots showed a median bias of 2.07 % [95 % CI: 1.42 – 6.99 %], 41.2 % [95 % CI: 34.9–51.8 %] and 34.9 % [95 % CI: 28.4–47.3 %] for cyclosporine, everolimus and sirolimus, respectively.

Conclusions

The cyclosporine ECLIA yielded results comparable to LC-MS/MS while poorly comparable results were obtained for everolimus and sirolimus, which may be explained by ISD metabolite cross-reactivity, amongst other factors. The poor comparability, although not unique, is noteworthy and the clinical consequences of these differences require further investigation.

目标液相色谱串联质谱法（LC-MS/MS）是测量免疫抑制剂（ISD）的黄金标准，但技术要求高，在资源有限的国家较难获得。免疫测定也可以测量 ISD 的浓度，但可能会受到交叉反应的限制。我们首次在非洲人群中评估了罗氏电化学发光免疫分析法（ECLIA）与液相色谱-质谱联用法（LC-MS/MS）在环孢素、依维莫司和西罗莫司方面的性能。结果对所有 ISD 进行的回归分析表明，ECLIA 与 LC-MS/MS 之间具有很强的相关性，Pearson's r 为 0.94。环孢素、依维莫司和西罗莫司的斜率分别为 0.94 [95 % CI: 0.87-1.03]、1.35 [95 % CI: 1.23-1.44]和 0.96 [95 % CI: 0.85-1.15]，Y-截距分别为 0.15、0.15 和 0.15。15]，Y-截距分别为 31.60 μg/L [95 % CI：2.02-57.63]、0.23 μg/L [95 % CI：0.21-0.72] 和 2.61 μg/L [95 % CI：1.30-3.56]。差异图显示，环孢素、依维莫司和西罗莫司的中位偏差分别为 2.07 % [95 % CI: 1.42 - 6.99 %]、41.2 % [95 % CI: 34.9 - 51.8 %]和 34.9 % [95 % CI: 28.4 - 47.3 %]。结论环孢素 ECLIA 的检测结果可与 LC-MS/MS 相媲美，而依维莫司和西罗莫司的检测结果可比性较差，这可能与 ISD 代谢物交叉反应等因素有关。可比性差虽然不是独一无二的，但值得注意，这些差异的临床后果需要进一步研究。

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引用次数: 0

The potential relationship between EasyNAT system Tt values and Cobas z480 Ct values in the detection of SARS-Cov-2 EasyNAT 系统 Tt 值与 Cobas z480 Ct 值在检测 SARS-Cov-2 中的潜在关系

IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY

Practical Laboratory Medicine

Pub Date : 2024-11-01 Epub Date: 2024-09-26 DOI: 10.1016/j.plabm.2024.e00431

Lu-Qing Zheng, Qing-Yong Wang

Objectives

This study aimed to evaluate the potential relationship between the time threshold (Tt) values of a commercial EasyNAT system, which is based on cross priming amplification (CPA) technology, and the cycle threshold (Ct) values of the Cobas z480 analyzer, which is based on a real-time fluorescence polymerase chain reaction (PCR) method, in the detection of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) from oropharyngeal swabs. Design and Methods: Data were retrospectively collected from a clinical laboratory between December 4, 2022 and July 1, 2024.

Results

A total of 277 EasyNAT-positive samples (Tt values from 3.83 to 29.5) were simultaneously investigated using the Cobas z480 analyzer (Ct values from 10.74 to 38.78). The concordance rate between the two systems was 100 %. Among the positive samples, the mean and maximum PCR Ct values of O and N genes increased in line with increasing Tt values of the left and right amplification areas of the EasyNAT system. The maximum Ct values of the O or N gene determined by the Cobas z480 analyzer were no more than 29.52 when the Tt values of the left or right amplification areas of the UC0116 analyzer were no more than 6.

Conclusions

The safe, simple, fast, accurate, and automatic EasyNAT system used in conjunction with a PCR system might be a better choice for the detection of SARS-CoV-2 in hospitals, especially in settings without sophisticated PCR facilities. The Tt value (≤6) of the EasyNAT system can be a reference index for estimating the maximum Ct value (29.52) in SARS-CoV-2-positive samples.

目的本研究旨在评估基于交叉引物扩增（CPA）技术的商用 EasyNAT 系统的时间阈值（Tt）与基于实时荧光聚合酶链反应（PCR）方法的 Cobas z480 分析仪的周期阈值（Ct）之间在检测口咽拭子中的严重急性呼吸系统综合征冠状病毒-2（SARS-CoV-2）方面的潜在关系。设计与方法：结果使用 Cobas z480 分析仪同时检测了 277 份 EasyNAT 阳性样本（Tt 值从 3.83 到 29.5 不等）（Ct 值从 10.74 到 38.78 不等）。两个系统的吻合率为 100%。在阳性样本中，O 和 N 基因的平均 PCR Ct 值和最大 PCR Ct 值随着 EasyNAT 系统左右扩增区 Tt 值的增加而增加。当 UC0116 分析仪左右扩增区的 Tt 值不超过 6 时，Cobas z480 分析仪测定的 O 或 N 基因的最大 Ct 值不超过 29.52。EasyNAT 系统的 Tt 值（≤6）可以作为估计 SARS-CoV-2 阳性样本中最大 Ct 值（29.52）的参考指标。

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引用次数: 0

Glycated albumin in pregnancy correlates negatively with body mass index and contributes to the risk of gestational diabetes mellitus 孕期糖化白蛋白与体重指数呈负相关，并增加妊娠糖尿病的风险

IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY

Practical Laboratory Medicine

Pub Date : 2024-11-01 Epub Date: 2024-10-23 DOI: 10.1016/j.plabm.2024.e00439

Toril Ø. Osestad , Kristin Lilleholt , Øyvind Skadberg , Linda R. Sagedal , Ingvild Vistad , Thomas Hundhausen

Objectives

The aims of our study were to establish a reference interval for glycated albumin (GA) in gestational week 30, to investigate whether GA can replace or reduce the need for oral glucose tolerance test (OGTT) in pregnancy, and to reassess the usefulness of body mass-index (BMI), age and fasting glucose in detection of gestational diabetes (GDM).

Design

and methods: We measured GA in 486 healthy pregnant women. Reference interval was calculated using the central 95 % of the results. ROC curves were created to assess the ability of GA, fasting glucose and BMI separately to detect GDM, and logistic regression analysis was used to estimate risk of developing GDM given the level of the same markers. Finally, multiple logistic regression analysis based on GA, fasting glucose and BMI was used to find a strategy of predicting a patient's risk of GDM.

Results

The reference interval for GA at week 30 of gestation is 6.8–10.3 %. The analysis has a low AUC (0.53) with respect to detecting GDM. It increases slightly to 0.64 when corrected for BMI, as GA is inversely correlated to BMI. Combining GA with fasting glucose and BMI at gestational weeks 16–20 could raise the AUC to 0.80.

Conclusion

GA cannot be recommended to replace OGTT for the diagnosis of GDM. Nor can it be used to identify women at risk of developing GDM. GA combined with fasting glucose and BMI in early pregnancy could be a useful model to estimate risk of GDM.

目的我们的研究旨在确定妊娠 30 周糖化白蛋白（GA）的参考区间，研究 GA 是否可以取代或减少妊娠期口服葡萄糖耐量试验（OGTT），并重新评估体重指数（BMI）、年龄和空腹血糖在检测妊娠糖尿病（GDM）中的作用：我们测量了 486 名健康孕妇的妊娠期糖尿病。以结果的 95% 为中心计算参考区间。绘制了 ROC 曲线，分别评估 GA、空腹血糖和体重指数检测 GDM 的能力，并使用逻辑回归分析估算在相同指标水平下罹患 GDM 的风险。最后，基于 GA、空腹血糖和 BMI 的多重逻辑回归分析被用来寻找预测患者 GDM 风险的策略。该分析在检测 GDM 方面的 AUC 较低（0.53）。由于 GA 与体重指数成反比，因此在对体重指数进行校正后，AUC 略微上升至 0.64。将 GA 与空腹血糖和孕 16-20 周时的 BMI 相结合，可将 AUC 提高到 0.80。GA不能取代OGTT用于诊断GDM，也不能用于识别有患GDM风险的妇女。GA与孕早期空腹血糖和体重指数相结合，可作为估计GDM风险的有用模型。

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引用次数: 0

Performance evaluation of Eu3+-based CRP/SAA and PCT/IL-6 lateral flow immunoassay kits and their diagnostic value in respiratory tract infections 基于 Eu3+ 的 CRP/SAA 和 PCT/IL-6 侧流免疫测定试剂盒的性能评估及其在呼吸道感染中的诊断价值

IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY

Practical Laboratory Medicine

Pub Date : 2024-11-01 Epub Date: 2024-09-27 DOI: 10.1016/j.plabm.2024.e00432

Mingxin Lin , Jing Zhang , Jianxing Cai , Jumei Liu , Min Zhu , Ke Li , Miaoyun Hu , Chenxi Li , Huiming Ye

Objectives

Respiratory infections are among the most common infectious diseases, resulting in significant morbidity and mortality. C-reactive protein (CRP), serum amyloid A (SAA), procalcitonin (PCT), and interleukin-6 (IL-6) are advantageous for diagnosing respiratory tract infections. This study assessed the analytical performance and accuracy of new kits for Eu3⁺-based CRP/SAA and PCT/IL-6 lateral flow immunoassay and its diagnostic value in respiratory tract infections.

Methods

This study evaluated the detection performance of a test kit using guidelines from the Center for Medical Device Evaluation (CMDE) and the Clinical and Laboratory Standards Institute (CLSI). The test results were compared to those of the commercial kits (CRP: Mindray; SAA: Norman; PCT: Shanghai Upper; IL-6: Wantai BioPharm). A total of 156 patients with respiratory tract infections (53 with bacterial infections (Bac group); 50 with viral infections (Vir group); and 53 with co-infections (Bac + Vir group)) were enrolled, along with 50 healthy controls (HC group). Venous blood samples were collected to measure levels of SAA, PCT, CRP, and IL-6 using both the test and commercial kits. The diagnostic value of these biomarkers was assessed using receiver operating characteristic (ROC) curves.

Results

Correlation analysis demonstrated a strong concordance between the test kits and commercial kits (CRP: r = 0.9396, P < 0.0001; SAA: r = 0.8986, P < 0.0001; PCT: r = 0.9594, P < 0.0001; IL-6: r = 0.9009, P < 0.0001). The diagnostic performance of the test kits in identifying bacterial, viral, and co-infections was highly consistent with that of the commercial kit.

Conclusions

The Eu3⁺-based CRP/SAA and PCT/IL-6 lateral flow immunoassay test kits demonstrated high levels of consistency with commercial kits in terms of quantitative outcomes and diagnostic performance for respiratory tract infections.

目的呼吸道感染是最常见的传染病之一，会导致严重的发病率和死亡率。C反应蛋白（CRP）、血清淀粉样蛋白A（SAA）、降钙素原（PCT）和白细胞介素-6（IL-6）是诊断呼吸道感染的有利指标。本研究评估了基于 Eu3+ 的 CRP/SAA 和 PCT/IL-6 侧流免疫测定新试剂盒的分析性能和准确性及其在呼吸道感染中的诊断价值。检测结果与商用试剂盒（CRP：Mindray；SAA：Norman；PCT：Shanghai Upper；IL-6：Wantai BioPharm）的检测结果进行了比较。共招募了 156 名呼吸道感染患者（53 名细菌感染患者（Bac 组）；50 名病毒感染患者（Vir 组）；53 名合并感染患者（Bac + Vir 组））和 50 名健康对照组（HC 组）。采集静脉血样本，使用检测试剂盒和商业试剂盒测量 SAA、PCT、CRP 和 IL-6 的水平。结果相关性分析表明，检测试剂盒与商用试剂盒之间具有很强的一致性（CRP：r = 0.9396，P <；0.0001；SAA：r = 0.8986，P <；0.0001；PCT：r = 0.9594，P <；0.0001；IL-6：r = 0.9009，P <；0.0001）。结论基于 Eu3+ 的 CRP/SAA 和 PCT/IL-6 侧流免疫测定试剂盒在呼吸道感染的定量结果和诊断性能方面与商业试剂盒具有高度的一致性。

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引用次数: 0

The interference and elimination of nitrite on determination of total urinary protein by Pyrogallol Red–Molybdate method 焦红-钼酸盐法测定尿总蛋白时亚硝酸盐的干扰与消除

IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY

Practical Laboratory Medicine

Pub Date : 2024-11-01 Epub Date: 2024-10-15 DOI: 10.1016/j.plabm.2024.e00436

Shijian Fan , Jiaqing Liu , Yu Wei , Jie Yao , Juan Cheng , Yang Tong , Qiang Zhou , Yuanhong Xu

Background

Some urine samples showed negative values of total urinary protein by Pyrogallol red–molybdate (PRM) method. Interestingly, these samples showed notably high levels of nitrite in the urine dipstick test.

Methods

A total of 120 urine samples were collected and categorized into four groups (0 - < 100, 100-<500, 500-<1000, ≥1000 mg/L) based on total urinary protein concentration. Various concentrations of nitrite (2, 10, 50, 100, and 200 mg/L) were added to urine samples to investigate potential interference of nitrite in total urinary protein measurement by the PRM method. Additionally, different concentrations of L-ascorbic acid (100, 500, 1000, and 2000 mg/L) were added to urine-nitrite mixtures to explore the possibility of reversing the interference effects.

Results

2 mg/L nitrite had no impact on the test results.10 mg/L nitrite only showed significant effects on the detection results among the groups with 0 - < 100 and 100-<500 mg/L (P < 0.05). 200 mg/L nitrite caused a noticeable decrease in the urinary protein detection results of the four groups (0 - < 100, 100-<500, 500-<1000, ≥1000 mg/L), and the concentrations were reduced to 2.7 %, 26.85 %, 75.22 %, and 89.33 % of their original levels, respectively. 500 mg/L L-ascorbic acid effectively eliminated the interference from 200 mg/L nitrite and almost had no effect on detection.

Conclusions

Nitrite had negative effect on the detection of total urinary protein by PRM method and L-ascorbic acid was effective in counteracting the interference caused by nitrite.

背景部分尿样经焦聚醇红钼酸盐（PRM）法检测显示尿总蛋白呈阴性。方法共收集了 120 份尿液样本，并根据尿液总蛋白浓度分为四组（0 - 100、100-500、500-1000、≥1000 mg/L）。在尿样中加入不同浓度的亚硝酸盐（2、10、50、100 和 200 mg/L），以研究亚硝酸盐对 PRM 方法测定尿蛋白总量的潜在干扰。结果2 毫克/升亚硝酸盐对检测结果没有影响。10 毫克/升亚硝酸盐只对 0 - < 100 和 100 - < 500 毫克/升组的检测结果有显著影响（P < 0.05）。200 mg/L 亚硝酸盐使四组（0 - <100、100-<500、500-<1000、≥1000 mg/L）的尿蛋白检测结果明显下降，浓度分别降至原来的 2.7 %、26.85 %、75.22 % 和 89.33 %。结论亚硝酸盐对 PRM 法检测尿总蛋白有负面影响，L-抗坏血酸能有效抵消亚硝酸盐的干扰。

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引用次数: 0

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

Practical Laboratory Medicine

Pub Date : 2024-11-01 Epub 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

Falsely abnormal serum protein electrophoresis after administration of intravenous immunoglobulins (IVIG): A retrospective cohort study 静脉注射免疫球蛋白（IVIG）后血清蛋白电泳异常：回顾性队列研究

IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY

Practical Laboratory Medicine

Pub Date : 2024-11-01 Epub Date: 2024-10-19 DOI: 10.1016/j.plabm.2024.e00434

Andrew Sulaiman, Patrizio Caturegli

Intravenous immunoglobulin (IVIG) therapy, used in several neurologic, hematologic, immunologic and dermatologic conditions, is known to interfere with the results of some serum laboratory tests. We analyzed the potential interference of IVIG on serum protein electrophoresis (SPEP) by reviewing more than a decade of SPEP studies performed by the clinical immunology laboratory of the Johns Hopkins Hospital. Of the total 100,350 SPEP performed between January 1, 2013 and December 31, 2023, 395 contained the keyword IVIG in the pathologist report, contributed by 348 patients confirmed to have received IVIG by chart review. Of the 348 patients, 20 (6 %) had a M-spike on SPEP suggestive of monoclonal gammopathy, while 328 (94 %) did not have it. Of the 20 patients, 14 received IVIG within 30 days from the SPEP collection date, while 6 received beyond 30 days. Serum immunofixation electrophoresis (SIFE) and clinical follow up showed no evidence of monoclonal gammopathy in 5 of the 14 patients. Overall, this 11-year retrospective cohort study showed that 5 of 348 (1.4 %) patients treated with IVIG and tested by SPEP had a false M-spike, that is a spike not confirmed to be caused by a monoclonal gammopathy by subsequent studies. Although small, the false positive rate of 1.4 % suggests that integrating knowledge of recent IVIG administration into the pathologist report would reduce SPEP misdiagnosis.

众所周知，静脉注射免疫球蛋白（IVIG）疗法会干扰某些血清实验室检测的结果，该疗法可用于多种神经、血液、免疫和皮肤病的治疗。我们通过回顾约翰霍普金斯医院临床免疫学实验室十多年来进行的 SPEP 研究，分析了 IVIG 对血清蛋白电泳（SPEP）的潜在干扰。在 2013 年 1 月 1 日至 2023 年 12 月 31 日期间进行的总共 100,350 例 SPEP 中，有 395 例病理学家报告中包含 IVIG 关键字，其中 348 例患者通过病历审查确认接受了 IVIG 治疗。在这 348 名患者中，有 20 人（6%）在 SPEP 中出现了提示单克隆性腺病的 M 峰，而 328 人（94%）没有出现 M 峰。在这 20 名患者中，14 人在 SPEP 采集日期后 30 天内接受了 IVIG 治疗，6 人在 30 天后接受了 IVIG 治疗。血清免疫固定电泳（SIFE）和临床随访显示，14 名患者中有 5 人未发现单克隆抗体病。总体而言，这项为期 11 年的回顾性队列研究显示，在 348 例接受 IVIG 治疗并接受 SPEP 检测的患者中，有 5 例（1.4%）出现了假 M-棘波，即后续研究未证实是由单克隆丙种球蛋白病引起的棘波。1.4% 的假阳性率虽然很小，但表明将近期 IVIG 用药知识纳入病理学家报告可减少 SPEP 误诊。

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引用次数: 0

A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China 产前诊断后出现 Hb Bart 胎儿水肿的新病例：来自中国惠州的病例报告

IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY

Practical Laboratory Medicine

Pub Date : 2024-11-01 Epub Date: 2024-10-23 DOI: 10.1016/j.plabm.2024.e00438

Zeyan Zhong , Dina Chen , Zhiyang Guan , Guoxing Zhong , Zhiyong Wu , Jianmin Chen , Jianhong Chen

Objective

Presentation of a novel case of a patient with Hb Bart's hydrops fetalis, which was accurately identified by SMRT sequencing leading to expand the mutation spectrum of α-thalassemia.

Case report

A 26-year-old pregnant woman and her husband underwent molecular analysis of thalassemia due to abnormal hematological results. The molecular analysis showed that the pregnant woman carried -α^3.7/--^SEA, while her husband exhibited a negative result. Accordingly, the pregnant woman continued the pregnancy until the 19-week gestational age. She was subsequently referred to our department for genetic counseling due to abnormal ultrasound findings in the fetus. A novel deletional α-thal mutation was detected for the husband by MLPA, and the precise location of the mutation was determined through SMRT sequencing, which revealed a 45.2 kb deletion. Later, an interventional umbilical cord blood puncture was offered for the pregnant woman. The cord blood was subjected to capillary electrophoresis, which revealed apparent Hb Bart's and Hb Portland peaks associated with Hb Bart's hydrops fetalis syndrome.

Conclusion

It is imperative that Hb Bart's hydrops fetalis syndrome be diagnosed with the utmost expediency. If results of molecular analysis are not consistent with the clinical hematological findings, the presence of a novel thalassemia could be suspected. To identify the novel genotype, the SMRT sequencing represents an effective method for achieving an accurate diagnosis.

病例报告一位 26 岁的孕妇及其丈夫因血液学结果异常而接受了地中海贫血分子分析。分子分析结果显示，孕妇携带-α3.7/--SEA，而其丈夫的结果为阴性。因此，孕妇继续妊娠至孕 19 周。由于胎儿的超声检查结果异常，她随后被转诊到我科接受遗传咨询。通过 MLPA 检测，发现丈夫有一个新的缺失α-thal 基因突变，并通过 SMRT 测序确定了基因突变的确切位置，发现有一个 45.2 kb 的缺失。随后，为孕妇进行了介入性脐带血穿刺。对脐带血进行了毛细管电泳，发现明显的 Hb Bart's 峰和 Hb Portland 峰与 Hb Bart's 胎儿水肿综合征有关。如果分子分析结果与临床血液学结果不一致，则可能怀疑存在新型地中海贫血。要确定新型基因型，SMRT 测序是实现准确诊断的有效方法。

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