Clinical biochemistry最新文献_第3页

Comparison of mean platelet component and mean platelet mass in immune thrombocytopenia versus hypoproductive thrombocytopenias 免疫性血小板减少症与低生成性血小板减少症平均血小板成分和平均血小板质量的比较。

IF 2.1 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2025-12-22 DOI: 10.1016/j.clinbiochem.2025.111070

Hrvoje Melinscak , Tahir Mirzoyev , Yu-Tong Hong , Mala Varma

Introduction

The Siemens (Bayer) ADVIA 120 has the capacity to calculate the mean platelet component (MPC), a measure of platelet density, and the mean platelet mass (MPM). In September 2013, we initiated a prospective study to determine if the MPC and MPM are significantly higher in immune thrombocytopenia than in hypoproductive thrombocytopenias.

Methods

Lavender tri-potassium EDTA tubes were filled and analyzed on the Siemens (Bayer) ADVIA 120 within a period not exceeding two hours from their collection. The student’s t-test was used to compare these parameters in the patient groups. Coefficients of variation were used to study intra-individual variability and inter-individual variability.

Results

Twenty patients with immune thrombocytopenia and 20 patients with hypoproductive thrombocytopenias were enrolled. The MPC and MPM were significantly higher in immune thrombocytopenia than in hypoproductive thrombocytopenias. A unique patient was studied when he had immune thrombocytopenia and then when he had chemotherapy-induced thrombocytopenia during treatment of lymphoma. His MPC and MPM were significantly higher during immune thrombocytopenia than during chemotherapy-induced thrombocytopenia. Intra-individual variability and inter-individual variability were low in this study.

Conclusion

A strength of our study is that the MPC and MPM assays were measured within 2 h of collection, since the MPC decreases over time. Our results attest to the clinical utility of MPC and MPM toward distinguishing immune thrombocytopenia from hypoproductive thrombocytopenias.

西门子（拜耳）ADVIA 120具有计算平均血小板成分（MPC），血小板密度的测量和平均血小板质量（MPM）的能力。2013年9月，我们启动了一项前瞻性研究，以确定MPC和MPM在免疫性血小板减少症中是否明显高于低生成性血小板减少症。方法：收集薰衣草三钾EDTA管后，在不超过2小时的时间内，在Siemens (Bayer) ADVIA 120上进行填充和分析。使用学生t检验来比较患者组中的这些参数。变异系数用于研究个体内变异和个体间变异。结果：共纳入20例免疫性血小板减少症患者和20例低增殖性血小板减少症患者。免疫性血小板减少症患者MPC和MPM明显高于低生成性血小板减少症患者。我们研究了一个独特的病人，当他有免疫性血小板减少症，然后当他在治疗淋巴瘤期间化疗引起的血小板减少症。他的MPC和MPM在免疫性血小板减少时明显高于化疗引起的血小板减少。本研究的个体内变异性和个体间变异性较低。结论：我们研究的一个优势是MPC和MPM检测在收集后2 h内测量，因为MPC随着时间的推移而降低。我们的结果证明了MPC和MPM在区分免疫性血小板减少症和低生成性血小板减少症方面的临床应用。

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引用次数: 0

Simple lithium measurement in capillary dried plasma microsamples collected with the HealthID PSD device 用HealthID PSD设备收集的毛细管干燥等离子体微样品中的简单锂测量

IF 2.1 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2025-12-19 DOI: 10.1016/j.clinbiochem.2025.111069

Eduarda Milena Reichert , Carolina Weber Ferrareze , Mayara Bernardes , Giovana Piva Peteffi , Amanda Pachedo Bondan , Mariele Feiffer Charão , Rafael Linden

Background

Monitoring serum lithium concentrations is essential during bipolar disorder treatment. This study aimed to develop and validate a simple approach for estimating serum lithium concentrations using dried plasma spots (DPS) obtained from the HealthID PSD device after application of capillary blood.

Methods

Lithium was extracted using BSA solution and quantified with a colorimetric assay on an automated clinical analyzer. A chloride-based correction factor was applied to account for variable plasma volumes in DPS extracts. Analytical validation included linearity, extraction yield, imprecision, hematocrit and volume effects, chromatographic uniformity during plasma migration, and stability at different temperatures. A clinical comparison study was performed using paired serum samples and DPS from 40 patients undergoing lithium therapy. Serum-equivalent lithium concentrations were calculated by applying a multiplication factor derived from the serum-to-DPS ratio. Agreement was assessed by Passing–Bablok regression, Bland–Altman analysis, median percentage predictive error (MPPE), median absolute percentage error (MAPE), and total error (TE).

Results

Linearity was demonstrated from 0.1–2.5 mmol/L. Extraction yields were 93.2–95.7 %, and chloride correction significantly improved imprecision. Hematocrit (30–50 %) and applied volume (160–240 µL) showed minimal influence on corrected concentrations. Lithium remained stable for 21 days. Serum-equivalent DPS lithium showed strong correlation with serum (r = 0.984), no proportional or systematic bias, MPPE 0.91 %, MAPE 6.7 %, and TE 11.9 %.

Conclusions

Lithium can be reliably quantified in DPS generated with the HealthID PSD device using a routine colorimetric assay. The method enables stable, minimally invasive capillary microsampling suitable for clinical monitoring of lithium therapy.

背景：在双相情感障碍治疗过程中监测血清锂浓度是必不可少的。本研究旨在开发和验证一种简单的方法，利用从HealthID PSD装置获得的毛细管血后的干血浆斑点（DPS）来估计血清锂浓度。方法采用牛血清白蛋白溶液提取钪，在全自动临床分析仪上用比色法定量。氯基校正因子用于解释DPS提取物中可变的血浆体积。分析验证包括线性度、提取率、不精密度、红细胞压积和体积效应、等离子体迁移过程中的色谱均匀性和不同温度下的稳定性。对40例接受锂治疗的患者的配对血清样本和DPS进行了临床比较研究。通过应用从血清- dps比率得出的倍增因子来计算血清等效锂浓度。采用Passing-Bablok回归、Bland-Altman分析、中位数百分比预测误差（MPPE）、中位数绝对百分比误差（MAPE）和总误差（TE）评估一致性。结果在0.1 ~ 2.5 mmol/L范围内呈线性关系。提取率为93.2 ~ 95.7%，经氯离子校正可显著改善不精密度。红细胞压积（30 - 50%）和应用体积（160-240µL）对校正浓度的影响最小。锂在21天内保持稳定。血清等效DPS锂与血清有很强的相关性（r = 0.984），无比例偏倚或系统偏倚，MPPE为0.91%，MAPE为6.7%，TE为11.9%。结论采用常规比色法，HealthID PSD装置产生的DPS中可以可靠地定量测定硫。该方法使稳定，微创毛细管微采样适合于锂治疗的临床监测。

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引用次数: 0

The influence of kidney function on the prognostic value of cardiac troponin 肾功能对心肌肌钙蛋白预后价值的影响。

IF 2.1 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2025-12-16 DOI: 10.1016/j.clinbiochem.2025.111068

Rasmus Bo Hasselbalch , Martin Schultz , Nicholas Carlson , Nina Strandkjær , Sophie Sander Knudsen , Alexander Holst Kronborg , Kristian H. Kragholm , Mikkel Porsborg Andersen , Henning Bundgaard , Christian Torp-Pedersen , Kristin M. Aakre , Kasper Karmark Iversen

Background

Kidney function influences the concentration of cardiac troponin T (cTnT) and I (cTnI). We investigate how this impacts their prognostic ability.

Methods

This Danish nationwide study included patients from 2013 to 2023 with at least two measurements of Roche hs-cTnT, Abbott hs-cTnI, or Siemens hs-cTnI Vista or Atellica during the index admission. Patients were stratified by estimated glomerular filtration rate (eGFR). We assessed prognostic ability by Cox models and area under the receiver operating characteristics curve (AUC). The primary endpoint was 30-day all-cause mortality.

Results

We included 277,723 patients (median age 69 years, 38.4 % female) of whom 19,565 (7.0 %) died within 30 days. Almost all patients with eGFR <30 ml/min/1.73 m² had myocardial injury using hs-cTnT (99.4 %) compared to hs-cTnI (85.4 %). Hazard ratios (HRs) for overall myocardial injury were higher than for acute myocardial injury and declined with worsening eGFR, particularly for hs-cTnT: HR 15.58 (95 % CI 12.77–19.00) for eGFR ≥90 ml/min/1.73 m², while estimation was impossible at eGFR 15–30 ml/min/1.73 m² due to few normal values. The highest HR for acute myocardial injury at eGFR ≥90 ml/min/1.73 m² was for hs-cTnI Abbott, HR 3.50 (95 % CI 2.79–4.38). AUC decreased with worsening eGFR across assays, 0.68–0.76 for eGFR ≥90 ml/min/1.73 m² to 0.59–0.63 for eGFR <15 ml/min/1.73 m². At eGFR ≥90 ml/min/1.73 m² the optimal cutoff was 16.5 ng/l for hs-cTnT and below the sex-specific 99th percentile for all hs-cTnI assays, increasing 5–20-fold with lower eGFR for all assays.

Conclusion

Kidney function affects cTn prognostic performance, with reduced predictive ability and higher optimal cutoff concentrations for lower eGFR.

背景：肾功能影响心肌肌钙蛋白T （cTnT）和I （cTnI）的浓度。我们调查这如何影响他们的预后能力。方法：这项丹麦全国范围的研究纳入了2013年至2023年在入院期间至少两次测量罗氏hs-cTnT、雅培hs-cTnI或西门子hs-cTnI Vista或Atellica的患者。通过估计肾小球滤过率（eGFR）对患者进行分层。我们通过Cox模型和受试者工作特征曲线下面积（AUC）评估预后能力。主要终点为30天全因死亡率。结果：我们纳入了277,723例患者（中位年龄69 岁，女性38.4% %），其中19,565例（7.0 %）在30 天内死亡。与使用hs-cTnI（85.4 %）相比，几乎所有的eGFR 2患者使用hs-cTnT（99.4 %）都有心肌损伤。整体心肌损伤的危险比（HR）高于急性心肌损伤，并随着eGFR的恶化而下降，特别是hs-cTnT: eGFR≥90 ml/min/1.73 m2时，HR为15.58(95 % CI 12.77-19.00)，而eGFR 15-30 ml/min/1.73 m2时，由于正常值很少，无法估计。当eGFR≥90 ml/min/1.73 m2时，hs-cTnI Abbott急性心肌损伤的HR最高，HR为3.50（95% % CI 2.79-4.38）。AUC随eGFR的恶化而降低，eGFR≥90时为0.68-0.76 ml/min/1.73 m2， eGFR 2时为0.59-0.63。当eGFR≥90 ml/min/1.73 m2时，hs-cTnT的最佳临界值为16.5 ng/l，所有hs-cTnI检测的最佳临界值均低于性别特异性的第99个百分点，随着eGFR的降低，所有检测的最佳临界值均增加5-20倍。结论：肾功能影响cTn的预后，其预测能力降低，eGFR越低，最佳切断浓度越高。

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引用次数: 0

A novel fluorescent-labeled serum protein electrophoresis method for detection of monoclonal free light chains in serum 荧光标记血清蛋白电泳检测血清中单克隆游离轻链的新方法。

IF 2.1 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2025-12-15 DOI: 10.1016/j.clinbiochem.2025.111067

Gaoyang Pang , Xiaojun Kang , Yan Li , Xiaojuan Zhang , Huijun Ren

Background

Current guidelines recommend a combination of serum protein electrophoresis (SPE), immunofixation electrophoresis (IFE), and serum free light chain (FLC) assays for monoclonal immunoglobulin (M−protein) screening. However, the high cost of this comprehensive panel limits its widespread use. In routine clinical practice in China, SPE alone is commonly employed for general population screening, but it suffers from low sensitivity for detecting monoclonal free light chains (LC-M−proteins), leading to a high rate of missed diagnoses. There is a clear clinical need for a novel method that enhances LC-M−protein detection while preserving the practicality of SPE.

Methods

We established a fluorescent-labeled serum protein electrophoresis (FSPE) technique. The method utilizes 2-(diphenylphosphino)ethylamine (DPEA) to selectively reduce the C-terminal thiols of LC-M−proteins (4 °C, 60 min, dark), followed by specific fluorescent labeling with sulfo-Cyanine5 maleimide (4 °C, 30 min, dark). After agarose gel electrophoresis separation, synchronous identification and quantification of LC-M−proteins and intact M−proteins are achieved via dual-channel (fluorescence and protein staining) imaging.

Results

Method validation demonstrated that DPEA enables efficient and selective reduction. The detection limit of FSPE for LC-M−proteins reached 400 mg/L. Quantitative analysis showed excellent performance (linearity: R2 = 0.9887; total precision: relative standard deviation, RSD = 6.61%). FSPE results were highly correlated with the reference Freelite™ FLC assay (Spearman’s r_s = 0.895, p < 0.01), although Bland-Altman analysis revealed quantitative differences between individual samples.

Conclusion

FSPE represents a significant upgrade to conventional SPE, effectively addressing its critical flaw of missing LC-M−proteins while achieving sensitivity comparable to IFE. It retains the key advantages of SPE, namely operational simplicity and low cost. Therefore, FSPE emerges as a potential standalone method for efficient M−protein screening.

背景：目前的指南推荐结合血清蛋白电泳（SPE）、免疫固定电泳（IFE）和血清游离轻链（FLC）检测来筛选单克隆免疫球蛋白（m蛋白）。然而，这种综合面板的高成本限制了它的广泛应用。在中国的常规临床实践中，SPE通常单独用于普通人群筛查，但其检测单克隆游离轻链（lc - m蛋白）的灵敏度较低，导致漏诊率高。显然，临床需要一种新的方法来增强lc - m蛋白检测，同时保持SPE的实用性。方法建立荧光标记血清蛋白电泳（FSPE）技术。该方法利用2-（二苯基膦）乙胺（DPEA）选择性地还原lc - m蛋白的C端硫醇（4 °C, 60 min，暗），然后用磺基氰胺5马来酰亚胺（4 °C, 30 min，暗）进行特异性荧光标记。琼脂糖凝胶电泳分离后，通过双通道（荧光和蛋白染色）成像实现lc - m蛋白和完整m蛋白的同步鉴定和定量。结果：方法验证表明，DPEA具有高效、选择性的还原效果。FSPE对lc - m蛋白的检出限达到400 mg/L。定量分析结果良好（线性关系：R2 = 0.9887；总精密度：相对标准偏差，RSD = 6.61%）。FSPE结果与参考Freelite™FLC分析高度相关（Spearman’s rs = 0.895, p < 0.01），尽管Bland-Altman分析显示个体样品之间存在定量差异。结论：FSPE代表了传统SPE的重大升级，有效地解决了lc - m蛋白缺失的关键缺陷，同时获得了与IFE相当的灵敏度。它保留了SPE的主要优点，即操作简单和成本低。因此，FSPE成为高效m蛋白筛选的潜在独立方法。

{"title":"A novel fluorescent-labeled serum protein electrophoresis method for detection of monoclonal free light chains in serum","authors":"Gaoyang Pang , Xiaojun Kang , Yan Li , Xiaojuan Zhang , Huijun Ren","doi":"10.1016/j.clinbiochem.2025.111067","DOIUrl":"10.1016/j.clinbiochem.2025.111067","url":null,"abstract":"<div><h3>Background</h3><div>Current guidelines recommend a combination of serum protein electrophoresis (SPE), immunofixation electrophoresis (IFE), and serum free light chain (FLC) assays for monoclonal immunoglobulin (M−protein) screening. However, the high cost of this comprehensive panel limits its widespread use. In routine clinical practice in China, SPE alone is commonly employed for general population screening, but it suffers from low sensitivity for detecting monoclonal free light chains (LC-M−proteins), leading to a high rate of missed diagnoses. There is a clear clinical need for a novel method that enhances LC-M−protein detection while preserving the practicality of SPE.</div></div><div><h3>Methods</h3><div>We established a fluorescent-labeled serum protein electrophoresis (FSPE) technique. The method utilizes 2-(diphenylphosphino)ethylamine (DPEA) to selectively reduce the C-terminal thiols of LC-M−proteins (4 °C, 60 min, dark), followed by specific fluorescent labeling with sulfo-Cyanine5 maleimide (4 °C, 30 min, dark). After agarose gel electrophoresis separation, synchronous identification and quantification of LC-M−proteins and intact M−proteins are achieved via dual-channel (fluorescence and protein staining) imaging.</div></div><div><h3>Results</h3><div>Method validation demonstrated that DPEA enables efficient and selective reduction. The detection limit of FSPE for LC-M−proteins reached 400 mg/L. Quantitative analysis showed excellent performance (linearity: R2 = 0.9887; total precision: relative standard deviation, RSD = 6.61%). FSPE results were highly correlated with the reference Freelite™ FLC assay (Spearman’s r<sub>s</sub> = 0.895, p < 0.01), although Bland-Altman analysis revealed quantitative differences between individual samples.</div></div><div><h3>Conclusion</h3><div>FSPE represents a significant upgrade to conventional SPE, effectively addressing its critical flaw of missing LC-M−proteins while achieving sensitivity comparable to IFE. It retains the key advantages of SPE, namely operational simplicity and low cost. Therefore, FSPE emerges as a potential standalone method for efficient M−protein screening.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"141 ","pages":"Article 111067"},"PeriodicalIF":2.1,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145773764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Improving the environmental impact paradox of clinical medical laboratories 改善临床医学实验室环境影响悖论。

IF 2.1 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2025-12-15 DOI: 10.1016/j.clinbiochem.2025.111063

Pernilla Sörme, Scott Weitze

The global healthcare system is a substantial contributor to planetary greenhouse gas emissions and the climate crisis. Healthcare also has additional negative effects on the environment through the pollution of water, soil, and air, and the generation of general and regulated biomedical waste. The healthcare system’s lagging sustainability has both direct and indirect consequences for human health, these factors present a paradox. Healthcare Without Harm has estimated that global healthcare systems are emitting two gigatons of carbon dioxide yearly, accounting for 4.4% of total global net emissions. Healthcare systems should address their negative environmental impact, while still treating patients to the highest standards of care.

Laboratories are resource-intensive spaces and should be a principal consideration when addressing the overall sustainability strategy of a healthcare system. Clinical medical laboratories, in particular, have often not optimised operations for sustainability, and have overlooked carbon emissions. The last decade has seen slow adoption of sustainable practices in clinical diagnostic laboratories even though numerous tools and programs are available for implementation, a disappointing result that also suggests an opportunity for rapid and dramatic improvement.

This article will describe:

•
The impact of clinical laboratories on the environment.
•
What actions clinical laboratories can take to reduce the environmental footprint of the healthcare system.
•
How third-party certification standards and established organizations are being utilized by hospitals and diagnostic laboratories.
•
Progress towards expanding the My Green Lab Certification framework to address the unique operational and environmental challenges of clinical laboratories.

全球医疗保健系统是造成全球温室气体排放和气候危机的重要因素。医疗保健还通过污染水、土壤和空气以及产生一般和受管制的生物医学废物对环境产生额外的负面影响。医疗保健系统的滞后可持续性对人类健康有直接和间接的影响，这些因素呈现出一个悖论。“无伤害医疗保健”组织估计，全球医疗保健系统每年排放20亿吨二氧化碳，占全球净排放量的4.4%。卫生保健系统应解决其对环境的负面影响，同时仍以最高的护理标准治疗患者。实验室是资源密集型空间，在解决医疗保健系统的整体可持续性战略时应主要考虑。特别是临床医学实验室，往往没有优化可持续性操作，并且忽视了碳排放。在过去的十年中，尽管有许多工具和程序可供实施，但临床诊断实验室对可持续实践的采用速度缓慢，这一令人失望的结果也表明了快速和显著改善的机会。本文将描述。

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引用次数: 0

Evaluation of three NT-proBNP assays for heart failure 三种NT-proBNP检测心力衰竭的评价。

IF 2.1 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2025-12-06 DOI: 10.1016/j.clinbiochem.2025.111062

Isaiah K. Mensah , Brittany Roemmich , Sydny Lawless , Alexis Wysocki , David Daghfal , Christian J. Hunter , Christopher W. Farnsworth

Background

N-terminal pro-B-type natriuretic peptide (NT-proBNP) measurement is recommended by guidelines for diagnosing and managing heart failure (HF). Accurate NT-proBNP measurement is critical for timely and effective treatment, but limited studies have compared NT-proBNP results from multiple platforms, and few studies have compared their concordance using commonly used clinical cutpoints.

Methods

The Alinity, PathFast, and Roche NT-proBNP assays were assessed in 276 patient samples, comprising 188 inpatients and 88 outpatients with normal renal function. Correlation and bias among the assays were assessed, and guideline-endorsed clinical cutpoints were used to evaluate concordance.

Results

Passing-Bablok regression revealed a slope of 1.00 (95% CI: 0.99–1.01) for Alinity vs. Roche, 1.14 (1.11–1.16) for PathFast vs. Roche, and 1.11 (1.01–1.13) for PathFast vs. Alinity. Bland-Altman analysis revealed minimal bias among the assays, with the closest agreement observed between PathFast and Alinity (−1.85%, −43.36 to 39.65). On inpatients, the concordance was 0.97 (0.94–0.99) for Alinity vs. Roche, 0.95 (0.92–0.99) for PathFast vs. Roche, and 0.94 (0.91–0.98) for PathFast vs. Alinity. For outpatients, the concordance was 0.92 (0.84–1.00) for Alinity vs. Roche, 0.90 (0.80–1.00) for PathFast vs. Roche, and 0.97 (0.92–1.00) for PathFast vs. Alinity.

Conclusion

Three NT-proBNP assay platforms demonstrated high correlation, minimal bias, and high clinical concordance. The results support the clinical interchangeability of these assays at commonly used and guideline-endorsed cutpoints.

背景：n -末端前b型利钠肽（NT-proBNP）测量被心力衰竭（HF）的诊断和管理指南推荐。准确的NT-proBNP测量对于及时有效的治疗至关重要，但是比较多个平台NT-proBNP结果的研究有限，而且很少有研究使用常用的临床切点比较它们的一致性。方法：对276例患者样本进行Alinity、PathFast和Roche NT-proBNP检测，其中包括188例住院患者和88例门诊正常肾功能患者。评估试验之间的相关性和偏倚，并使用指南认可的临床切点来评估一致性。结果：Passing-Bablok回归显示Alinity与Roche的斜率为1.00 (95% CI: 0.99-1.01)， PathFast与Roche的斜率为1.14 (1.11-1.16)，PathFast与Alinity的斜率为1.11（1.01-1.13）。Bland-Altman分析显示，两种检测方法之间的偏倚最小，PathFast和Alinity的一致性最接近（-1.85%,-43.36至39.65）。在住院患者中，Alinity与Roche的一致性为0.97 (0.94-0.99)，PathFast与Roche的一致性为0.95 (0.92-0.99)，PathFast与Alinity的一致性为0.94（0.91-0.98）。对于门诊患者，Alinity与Roche的一致性为0.92 (0.84-1.00)，PathFast与Roche的一致性为0.90 (0.80-1.00)，PathFast与Alinity的一致性为0.97（0.92-1.00）。结论：三个NT-proBNP检测平台具有高相关性、最小偏倚和高临床一致性。结果支持这些检测在常用和指南认可的切点的临床互换性。

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引用次数: 0

Comparability of venous and capillary blood measurements for a host-protein test differentiating bacterial from viral infections 用于区分细菌和病毒感染的宿主蛋白试验的静脉和毛细血管血液测量的可比性。

IF 2.1 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2025-12-06 DOI: 10.1016/j.clinbiochem.2025.111065

Mary Hainrichson , Nitzan Shamir , Naftalie Senderovich , May Levin , Husein Darawsha , Ayelet Raz , Salim Halabi , Oded Shaham , Roy Navon , Tanya M. Gottlieb , Barak Hershkovitz

Background

MeMed BV is a host-protein test for discriminating bacterial and viral infections. It was analytically and clinically validated in serum and venous whole blood samples. Here we investigated the comparability of venous versus capillary blood measurements of the MeMed BV score and of tumor necrosis factor-related apoptosis-inducing ligand (TRAIL), interferon gamma-induced protein-10 (IP-10), and C-reactive protein (CRP) biomarkers.

Methods

Adult patients with suspected acute infection were enrolled prospectively at three medical centers. Eligibility criteria were based on MeMed BV instructions for use. Paired venous and capillary samples (50 µL) were collected and measured.

Three predetermined acceptance criteria for comparability for MeMed BV score were: (1) Slope 0.9–1.1 and intercept −5 to 5 in Passing-Bablok regression; (2) 95 % confidence intervals (CI) for bias at score bin cutoffs fall within −12.5 to 12.5; and (3) <5 % of paired scores fall in non-adjacent clinical interpretation bins.

Results

Among 58 patients (median age 58.5 years), TRAIL, IP-10, and CRP measurements in venous and capillary blood were highly correlated (r = 0.98–0.99). For the MeMed BV score, slope was 1.00 (95 % CI: 0.99, 1.01), intercept 0.00 (−1.04, 0.08), 95 % CI for bias at each cutoff was within limits and no paired scores fell in non-adjacent bins. All three criteria were met and findings were consistent in a single replicates analysis.

Conclusion

Venous and capillary blood yield comparable MeMed BV scores and biomarker values. The findings can serve as the basis for expanding MeMed BV’s use to include capillary blood specimens, potentially widening its clinical utility.

背景：MeMed BV是一种区分细菌和病毒感染的宿主蛋白检测方法。在血清和静脉全血样本中进行了分析和临床验证。在这里，我们研究了静脉与毛细血管血液测量MeMed BV评分以及肿瘤坏死因子相关凋亡诱导配体（TRAIL）、干扰素γ诱导蛋白-10 （IP-10）和c反应蛋白（CRP）生物标志物的可比性。方法：前瞻性纳入3个医疗中心疑似急性感染的成年患者。资格标准基于MeMed BV使用说明。采集配对静脉和毛细血管样本（50 µL）并测量。MeMed BV评分可比性的三个预定接受标准为：(1)passingbablok回归斜率为0.9 ~ 1.1，截距为-5 ~ 5；(2)分数bin截止点偏差的95% %置信区间（CI）在-12.5到12.5之间；(3)结果：58例患者（中位年龄58.5 岁），静脉血、毛细血管血中TRAIL、IP-10、CRP测量高度相关（r = 0.98-0.99）。对于MeMed BV评分，斜率为1.00(95 % CI: 0.99, 1.01)，截距为0.00(-1.04,0.08)，每个截止点的偏差95 % CI在限制范围内，非相邻箱中没有配对分数下降。所有三个标准均满足，结果在单次重复分析中是一致的。结论：静脉血和毛细血管血产率与MeMed BV评分和生物标志物值具有可比性。这些发现可以作为将MeMed BV的应用范围扩大到毛细血管血液标本的基础，潜在地扩大其临床应用范围。

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引用次数: 0

Constructive critique on the development and validation of a multiplex LC-MS/MS DBS assay 对多重LC-MS/MS DBS分析的开发和验证提出建设性意见。

IF 2.1 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2025-12-05 DOI: 10.1016/j.clinbiochem.2025.111059

Parth Aphale, Shashank Dokania, Himanshu Shekhar

引用次数: 0

Novel and known fibrinogen gene mutations in Chinese pediatric patients with congenital dysfibrinogenemia: genetic and functional characterization 中国儿童先天性纤维蛋白异常血症患者中新的和已知的纤维蛋白原基因突变：遗传和功能特征。

IF 2.1 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2025-12-02 DOI: 10.1016/j.clinbiochem.2025.111064

Juan Huang , Duocai Wang , Ying Wang , Yongqiang Yang , Dong Peng , Meizhu Luo , Xiaoying Fu

Objectives

Congenital dysfibrinogenemia (CD) is a rare inherited disorder caused by qualitative abnormalities in fibrinogen, leading to discordance between functional and antigenic fibrinogen levels. Genetic testing plays a pivotal role in confirming diagnosis and elucidating phenotypic heterogeneity. This study aims to emphasize the diagnostic value of combining coagulation assays with genetic testing and underscore the clinical heterogeneity of CD through clinical cases of novel mutations.

Design & methods

Five pediatric patients with incidentally identified CD were diagnosed at Shenzhen Children’s Hospital. Peripheral blood samples were analyzed for coagulation parameters, including fibrinogen activity (FIB:C) by the Clauss method, fibrinogen derived from the prothrombin time (PT-dF), as well as activated partial thromboplastin time （aPTT）, PT, thrombin time (TT), and thromboelastography (TEG). Sanger sequencing was conducted to assess mutations in FGA, FGB, and FGG genes.

Results

Two unrelated patients harbored a known heterozygous mutation in FGG (c.902G > A; p.Arg301His). Two novel heterozygous mutations were identified: FGA (c.113G > A; p.Arg38Lys) and FGG (c.902G > T; p.Arg301Leu). A homozygous mutation in FGB (c.292G > A; p.Ala98Thr) was detected in another patient; this variant has been reported only twice before in the literature. All patients were asymptomatic. Coagulation testing revealed consistently decreased FIB:C with normal PT-dF, characteristic of CD. TEG analysis showed variable alterations in fibrinogen-related parameters, although no consistent genotype–phenotype correlation was observed.

Conclusion

This study expands the genetic and phenotypic spectrum of CD in children, reporting two novel mutations and documenting the first pediatric cases of these variants in a Chinese cohort. Given the potential long-term risks and diagnostic complexity in asymptomatic pediatric patients, individualized surveillance and management strategies are warranted. Further research is needed to evaluate the functional consequences of novel mutations and their implications for pediatric hemostasis.

目的：先天性纤维蛋白异常血症（CD）是一种罕见的遗传性疾病，由纤维蛋白原质的异常引起，导致功能性和抗原性纤维蛋白原水平不一致。基因检测在确认诊断和阐明表型异质性方面起着关键作用。本研究旨在强调凝血试验与基因检测相结合的诊断价值，并通过新突变的临床病例强调CD的临床异质性。设计与方法：在深圳市儿童医院对5例偶然发现的乳糜泻患儿进行诊断。分析外周血样本的凝血参数，包括纤维蛋白原活性（FIB:C）通过Clauss方法，纤维蛋白原衍生的凝血酶原时间（PT- df），以及活化部分凝血活素时间，PT，凝血酶时间，和血栓弹性图（TEG）。Sanger测序评估FGA、FGB和FGG基因的突变。结果：两名不相关的患者携带已知的FGG杂合突变（c.902G > a; p.Arg301His）。鉴定出两个新的杂合突变：FGA （c.113G > A; p.Arg38Lys）和FGG （c.902G > T; p.Arg301Leu）。在另一名患者中检测到FGB纯合突变（c.292G > A; p.Ala98Thr）；这种变异在以前的文献中只报道过两次。所有患者均无症状。凝血试验显示FIB:C持续下降，PT-dF正常，这是CD的特征。TEG分析显示纤维蛋白原相关参数的变化，尽管没有观察到一致的基因型-表型相关性。结论：本研究扩大了儿童CD的遗传和表型谱，报告了两个新的突变，并记录了中国队列中这些突变的第一例儿科病例。鉴于无症状儿童患者的潜在长期风险和诊断复杂性，个性化的监测和管理策略是必要的。需要进一步的研究来评估新突变的功能后果及其对儿童止血的影响。

{"title":"Novel and known fibrinogen gene mutations in Chinese pediatric patients with congenital dysfibrinogenemia: genetic and functional characterization","authors":"Juan Huang , Duocai Wang , Ying Wang , Yongqiang Yang , Dong Peng , Meizhu Luo , Xiaoying Fu","doi":"10.1016/j.clinbiochem.2025.111064","DOIUrl":"10.1016/j.clinbiochem.2025.111064","url":null,"abstract":"<div><h3>Objectives</h3><div>Congenital dysfibrinogenemia (CD) is a rare inherited disorder caused by qualitative abnormalities in fibrinogen, leading to discordance between functional and antigenic fibrinogen levels. Genetic testing plays a pivotal role in confirming diagnosis and elucidating phenotypic heterogeneity. This study aims to emphasize the diagnostic value of combining coagulation assays with genetic testing and underscore the clinical heterogeneity of CD through clinical cases of novel mutations.</div></div><div><h3>Design & methods</h3><div>Five pediatric patients with incidentally identified CD were diagnosed at Shenzhen Children’s Hospital. Peripheral blood samples were analyzed for coagulation parameters, including fibrinogen activity (FIB:C) by the Clauss method, fibrinogen derived from the prothrombin time (PT-dF), as well as activated partial thromboplastin time （aPTT）, PT, thrombin time (TT), and thromboelastography (TEG). Sanger sequencing was conducted to assess mutations in <em>FGA</em>, <em>FGB</em>, and <em>FGG</em> genes.</div></div><div><h3>Results</h3><div>Two unrelated patients harbored a known heterozygous mutation in <em>FGG</em> (c.902G > A; p.Arg301His). Two novel heterozygous mutations were identified: <em>FGA</em> (c.113G > A; p.Arg38Lys) and <em>FGG</em> (c.902G > T; p.Arg301Leu). A homozygous mutation in <em>FGB</em> (c.292G > A; p.Ala98Thr) was detected in another patient; this variant has been reported only twice before in the literature. All patients were asymptomatic. Coagulation testing revealed consistently decreased FIB:C with normal PT-dF, characteristic of CD. TEG analysis showed variable alterations in fibrinogen-related parameters, although no consistent genotype–phenotype correlation was observed.</div></div><div><h3>Conclusion</h3><div>This study expands the genetic and phenotypic spectrum of CD in children, reporting two novel mutations and documenting the first pediatric cases of these variants in a Chinese cohort. Given the potential long-term risks and diagnostic complexity in asymptomatic pediatric patients, individualized surveillance and management strategies are warranted. Further research is needed to evaluate the functional consequences of novel mutations and their implications for pediatric hemostasis.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"141 ","pages":"Article 111064"},"PeriodicalIF":2.1,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145676361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Reducing inappropriate vitamin D testing: an analysis of three sequential diagnostic stewardship interventions and the carbon footprint implications 减少不适当的维生素D测试：对三个连续诊断管理干预措施和碳足迹影响的分析

IF 2.1 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry

Pub Date : 2025-11-26 DOI: 10.1016/j.clinbiochem.2025.111060

C. Hughes , M.A. Myers , M. Tickell-Painter , M. Aitchison , L. Roberts , R.J. Shorten

Introduction

The climate crisis is a health crisis, and healthcare contributes to this via consumption of resources, the release of greenhouse gases, and the generation of waste. Pathology testing underpins most healthcare, and the vast number of tests performed in clinical laboratories come with an environmental cost. There is a growing body of evidence demonstrating that many pathology tests are unnecessary, utilising finite resources, potentially causing patient harm, and generating a carbon footprint. Vitamin D testing is one such example.

Methods

A quasi-experimental study of three real-world diagnostic stewardship interventions to reduce inappropriate vitamin D testing. The number of vitamin D test requests were measured pre- and post- each intervention, and cardon dioxide equivalent (CO₂e) savings were estimated for any reduction in testing that was realised.

Results

An intervention that passively provided information on best practice did not reduce testing volumes. Interventions that removed automated reflex testing in the emergency department, and the implementation of a best-practice clinical decision tool utilising national testing guidelines resulted in a statistically significant reduction of vitamin D requests. These reductions cumulatively saved almost 44,000 g CO₂e across the three diagnostic stewardship interventions.

Discussion

This study showed that diagnostic stewardship interventions can reduce testing volumes and generate CO₂e savings. While these savings are modest, it is possible to consider that if such interventions were used widely to prevent inappropriate testing across multiple test types, laboratories, and healthcare settings, the cumulative carbon and financial savings could be substantial. Such ‘soft stop’ interventions do not prevent a clinician who is determined to send such tests, and future work should combine these tools with behavioural change interventions to maximise their benefit.

气候危机是一场健康危机，医疗保健通过消耗资源、排放温室气体和产生废物而加剧了这一危机。病理检测是大多数医疗保健的基础，而在临床实验室进行的大量检测会带来环境成本。越来越多的证据表明，许多病理检查是不必要的，利用有限的资源，可能对患者造成伤害，并产生碳足迹。维生素D测试就是这样一个例子。方法对三种现实世界诊断管理干预措施进行准实验研究，以减少不适当的维生素D检测。在每次干预之前和之后测量维生素D测试请求的数量，并估计实现测试减少的二氧化碳当量（CO2e）节约。结果被动提供最佳实践信息的干预措施并未减少检测量。在急诊科取消自动反射测试的干预措施，以及利用国家测试指南实施最佳实践临床决策工具，导致维生素D需求在统计上显著减少。在三种诊断管理干预措施中，这些减排措施累计节省了近44,000克二氧化碳当量。本研究表明，诊断管理干预措施可以减少检测量并节省二氧化碳排放量。虽然这些节省是适度的，但可以考虑，如果这些干预措施被广泛使用，以防止在多种测试类型、实验室和医疗保健环境中进行不适当的测试，那么累积的碳和财务节省可能是巨大的。这种“软停止”干预措施并不能阻止决心进行此类测试的临床医生，未来的工作应该将这些工具与行为改变干预措施结合起来，以最大限度地提高它们的效益。

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引用次数: 0