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Application and concentration selection of dithiothreitol for correcting false elevation of D-dimer 二硫苏糖醇在纠正d -二聚体假升高中的应用及浓度选择
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-03-20 DOI: 10.1016/j.plabm.2025.e00469
Jia-Wei Zeng , Guang-Hao Song , Mao Xia

Background

Immunological methods for D-dimer detection are prone to interference, leading to falsely elevated values. This study evaluates the optimal concentration and corrective efficacy of dithiothreitol (DTT) in addressing false D-dimer elevations.

Methods

Plasma samples from seven patients with falsely elevated D-dimer levels, identified using the Sysmex CS5100 coagulation analyzer, were analyzed. Correction was performed using the Stago STA-R Max analyzer with alternative detection antibodies. Additionally, plasma samples from thirty patients with confirmed D-dimer elevations were treated with varying concentrations of DTT (0.01, 0.05, 0.10, and 0.20 mol/L) and normal saline (NS). The optimal concentration of 0.01 mol/L DTT was identified and applied to the experimental group. The results were compared with those obtained using an alternative immunoassay method.

Results

In the true elevation group, samples treated with 0.01 mol/L DTT showed no significant difference in D-dimer levels compared to the NS control or original results (all P > 0.05). Higher concentrations of DTT significantly lowered D-dimer levels compared to the NS group (all P < 0.05). In the experimental group, 0.01 mol/L DTT treatment and the alternative immunoassay method similarly reduced D-dimer levels, with no significant difference between the two correction methods (P > 0.05).

Conclusion

A 0.01 mol/L DTT solution effectively corrects falsely elevated D-dimer levels without affecting true elevations, yielding results comparable to those achieved by changing the immunoassay method.
d -二聚体检测的免疫学方法容易受到干扰,导致错误的升高值。本研究评估了二硫苏糖醇(DTT)在解决假d -二聚体升高中的最佳浓度和矫正效果。方法采用Sysmex CS5100凝血分析仪对7例d -二聚体水平虚高患者的血浆样本进行分析。校正使用Stago STA-R Max分析仪与替代检测抗体。此外,对30例确诊d -二聚体升高的患者的血浆样本进行不同浓度的DTT(0.01、0.05、0.10和0.20 mol/L)和生理盐水(NS)治疗。确定了0.01 mol/L DTT的最佳浓度,并应用于实验组。将结果与采用另一种免疫测定方法获得的结果进行比较。结果在真抬高组中,0.01 mol/L DTT处理的样品d -二聚体水平与NS对照组或原始结果相比无显著差异(P >;0.05)。与NS组相比,高浓度DTT显著降低d -二聚体水平(P <;0.05)。在实验组中,0.01 mol/L DTT处理与替代免疫分析法相似地降低了d -二聚体水平,两种校正方法之间无显著差异(P >;0.05)。结论0.01 mol/L DTT溶液可有效纠正假升高的d -二聚体水平,而不影响真实升高,其结果与改变免疫测定方法的结果相当。
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引用次数: 0
A 9-year-old child presenting with anemia accompanied by abnormal red blood cell morphology 一名9岁儿童,表现为贫血并伴有红细胞形态异常
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-03-20 DOI: 10.1016/j.plabm.2025.e00459
Huijun Qin , Yuan He , Zaixiang Xie
Cases of anemia presenting with abnormal erythrocyte morphology often pose diagnostic challenges, particularly in patients with refractory anemia. Here, we present the case of a 9-year-old male patient under investigation for anemia, who had a history of anemia and received a blood transfusion at birth. Despite the absence of obvious clinical manifestations related to anemia thereafter, his condition was not given due consideration. The patient experienced a sudden onset of illness and was initially suspected to have thalassemia. However, subsequent pertinent examinations, notably bone marrow aspiration and genetic testing, led to the diagnosis of hereditary sideroblastic anemia alongside chronic atrophic gastritis. This case illustrates the diagnostic journey of anemia characterized by abnormal red blood cell morphology, aiming to facilitate early and accurate diagnosis, as well as prompt treatment, for such patients in clinical practice.
以红细胞形态异常为表现的贫血病例常常给诊断带来挑战,特别是难治性贫血患者。在这里,我们提出的情况下,9岁的男性患者贫血接受调查,谁有贫血史,并接受输血出生。尽管此后没有明显的与贫血相关的临床表现,但他的病情没有得到应有的考虑。患者突然发病,最初被怀疑患有地中海贫血。然而,随后的相关检查,特别是骨髓穿刺和基因检测,导致遗传性铁母细胞性贫血和慢性萎缩性胃炎的诊断。本病例阐述了以红细胞形态异常为特征的贫血的诊断历程,旨在促进临床对这类患者的早期准确诊断和及时治疗。
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引用次数: 0
Evaluation of CircHIPK3 biomarker potential in breast cancer CircHIPK3生物标志物在乳腺癌中的潜力评估
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-03-20 DOI: 10.1016/j.plabm.2025.e00470
Ensiyeh Bahadoran , Davood Mohammadi , Manijeh Jalilvand , Sahar Moghbelinejad

Background

Nowadays, the investigation of circular RNAs (circRNAs) in various cancers is of great interest. In this research, we evaluated circHIPK3 biomarker potential in breast cancer (BC).

Methods

The studied samples were 100 cancer and adjacent normal tissues, plasma from 95 cancer patients, 42 patients with fibroadenomatosis, and 93 healthy donors. Illumina high-throughput Hi Seq 2000 sequencing performed expression profiling on 4 pairs of cancerous and normal breast tissues. For expression confirmation, Quantitative real-time fluorescent polymerase chain reaction (qRT-PCR) was used to detect the expression level of circHIPK3. CircHIPK3 diagnostic efficacy was evaluated by the receiver operating characteristic curve (ROC).

Results

Based on high-throughput sequencing and bioinformatics results circHIPK3 had the highest expression in cancer tissues (P = 0.00034). Real-time results showed expression upregulation of circHIPK3 in BC tissues and plasma in comparison to healthy controls (P < 0.0001). For diagnostic potential, the area under the curve (AUC) result was 0.8087 (95 % CI: 0.7309 to 0.8866, P < 0.0001). Also, our results showed high specificity and sensitivity of circHIPK3 when evaluated alongside the CA-15-3 and CEA. Pathologic criteria evaluation showed that upregulation of circHIPK3 correlates with tumor size.

Conclusions

CircHIPK3 is significantly upregulated in BC tissues and plasma compared to healthy controls, demonstrating high diagnostic potential with an AUC of 0.8087. The expression of circHIPK3 correlates with tumor size, indicating its relevance in the pathologic assessment of BC.
目前,环状rna (circRNAs)在各种癌症中的研究引起了人们极大的兴趣。在这项研究中,我们评估了circHIPK3生物标志物在乳腺癌(BC)中的潜力。方法选取100例肿瘤及邻近正常组织、95例肿瘤患者、42例纤维腺瘤患者和93例健康供体的血浆。Illumina高通量Hi Seq 2000测序对4对癌性和正常乳腺组织进行了表达谱分析。为确认表达,采用定量实时荧光聚合酶链反应(qRT-PCR)检测circHIPK3的表达水平。采用受试者工作特征曲线(ROC)评价CircHIPK3的诊断效果。结果基于高通量测序和生物信息学结果,circHIPK3在肿瘤组织中表达最高(P = 0.00034)。实时结果显示,与健康对照组相比,circHIPK3在BC组织和血浆中的表达上调(P <;0.0001)。对于诊断潜力,曲线下面积(AUC)结果为0.8087 (95% CI: 0.7309 ~ 0.8866, P <;0.0001)。此外,我们的结果显示,当与CA-15-3和CEA一起评估时,circHIPK3具有很高的特异性和敏感性。病理标准评估显示circHIPK3的上调与肿瘤大小相关。结论与健康对照相比,scirchipk3在BC组织和血浆中表达显著上调,AUC为0.8087,具有较高的诊断潜力。circHIPK3的表达与肿瘤大小相关,表明其与BC的病理评估相关。
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引用次数: 0
Gene variant analysis in pediatrics with early-onset epilepsy: Identification of novel variants 早发性癫痫患儿的基因变异分析:新变异的鉴定
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-03-19 DOI: 10.1016/j.plabm.2025.e00462
Pooyan Alizadeh , Armin Jahangiri Babadi , Nemat Ghadiri , Mostafa Neissi , Masoud Zeinali

Background

Epilepsy encompasses a range of brain disorders, often accompanied by growth delay and cerebral palsy. The identification of gene variants is critical for guiding treatment strategies in patients with epilepsy. This study investigates the genetic variants in patients with early-onset epilepsy (EOE) through whole-exome sequencing (WES).

Materials and methods

DNA was extracted from peripheral blood using a standard salting-out method. Gene variants were identified using WES, and sequencing data were analyzed through a two-step approach.

Results

Among 20 subjects, WES identified two novel variants. The first variant, AP3B2 (NM_001278512.2: c.3190G > A; p. Val1064Ile), was located in exon 27 and exhibited homozygosity in the proband and heterozygosity in the parents. The second variant, PIGB (NM_004855.5: c.1664G > C; p.Ter555Serext∗54), was located in exon 12 and demonstrated a similar inheritance pattern. Notably, the PIGB variant was associated with elevated ALP levels.

Conclusion

This study highlights the value of WES in identifying genetic variants associated with epilepsy, particularly the novel AP3B2 and PIGB variants. By focusing on these impactful findings, the study advances understanding of epilepsy genetics and emphasizes the role of WES in enabling early diagnosis, personalized treatment, and improved management strategies.
癫痫包括一系列脑部疾病,常伴有生长迟缓和脑瘫。基因变异的鉴定对于指导癫痫患者的治疗策略至关重要。本研究通过全外显子组测序(WES)研究早发性癫痫(EOE)患者的遗传变异。材料与方法采用标准盐析法从外周血中提取dna。利用WES鉴定基因变异,并通过两步法分析测序数据。结果在20名受试者中,WES鉴定出2个新的变异。第一种改型AP3B2 (NM_001278512.2: c.3190G >;一个;p. Val1064Ile),位于第27外显子,在先证者中表现为纯合性,在父母中表现为杂合性。第二种改型PIGB (NM_004855.5: c.1664G >;C;p.Ter555Serext * 54),位于第12外显子,表现出类似的遗传模式。值得注意的是,PIGB变异与ALP水平升高有关。结论本研究强调了WES在识别癫痫相关遗传变异,特别是新型AP3B2和PIGB变异方面的价值。通过关注这些有影响力的发现,本研究推进了对癫痫遗传学的理解,并强调了WES在早期诊断、个性化治疗和改进管理策略方面的作用。
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引用次数: 0
Comparison of routine blood parameters by altitude and residence duration in the Western Sichuan Plateau 川西高原海拔和居住时间对血常规指标的影响
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-03-19 DOI: 10.1016/j.plabm.2025.e00467
Liang Wan , Qing Yuan , Mingxia Tang, Zhu Zhu, Yanwu Liu, Zhenglin Huang, Shuzhi Zhou, Ling Zhang, Qiaoling Wang, Yuntao Guo, Jian Yang

Background

This study explores how routine blood test parameters change over time in acclimatized individuals at different altitudes on the Western Sichuan Plateau.

Methods

Healthy men aged 20–40 from low-altitude areas who moved to Ganzi Prefecture to live and work were recruited. The observation sites were Guzan Town (1400 m), Kangding County Seat (2500 m), Luhuo County Seat (3400 m), and Litang County Seat (4100 m). Participants at the same altitude were grouped according to residence duration. The relationships between blood test parameters, altitude, and residence duration were analyzed.

Results

After moving to the plateau, white blood cell, red blood cell, hemoglobin, and hematocrit levels rose quickly in the short term, then declined and stabilized. In contrast, platelet levels increased steadily and were positively correlated with altitude.

Conclusions

Changes in blood parameters during high-altitude acclimatization are significant physiological responses to hypoxia and are affected by both altitude and residence duration.
本研究探讨川西高原不同海拔环境下个体血常规检测参数随时间的变化。方法招募20 ~ 40岁低海拔地区迁入甘孜州生活和工作的健康男性。观察点为古瓒镇(1400米)、康定县城(2500米)、鲁火县城(3400米)、理塘县城(4100米)。同一海拔的参与者按居住时间分组。分析血检参数与海拔、居住时间的关系。结果进入高原后,白细胞、红细胞、血红蛋白和红细胞压积在短期内迅速上升,随后下降并趋于稳定。相比之下,血小板水平稳步上升,并与海拔高度呈正相关。结论高原适应过程中血液参数的变化是对缺氧的显著生理反应,受海拔和停留时间的影响。
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引用次数: 0
Technical improvement on next-generation sequencing in clinical application 新一代测序在临床应用中的技术改进
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-03-08 DOI: 10.1016/j.plabm.2025.e00465
Xiaolei Xie, Weiguo Yin, Shuxia Xuan, Fuguang Li
The next-generation sequencing (NGS) technology is currently widely utilized in clinical laboratories. This paper describes a method of technical improvement on NGS, which increases the success rates of NGS detection. This study reveals that the DNA library concentration is the highest at a molar ratio of 100:1 for the adapter to DNA. The self-revised method for adaptor ligation can effectively improve the success rate of DNA library, particularly in manual operations. Additionally, the modified pooling method, which incorporates various DNA fragment sizes for different NGS projects, proves beneficial for medical laboratory applications.
新一代测序(NGS)技术目前广泛应用于临床实验室。本文介绍了一种对NGS进行技术改进的方法,提高了NGS检测的成功率。这项研究表明,DNA库浓度是最高的摩尔比为100:1的适配器DNA。自修订的接头连接方法可以有效提高DNA文库的成功率,特别是人工操作的成功率。此外,改进的汇集方法为不同的NGS项目纳入了不同的DNA片段大小,证明对医学实验室应用有益。
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引用次数: 0
The value of loop-mediated isothermal amplification in diagnosing lower respiratory tract infections in children 环介导的等温扩增在诊断儿童下呼吸道感染中的价值
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-03-08 DOI: 10.1016/j.plabm.2025.e00463
Feng Yan, Shikun Xu, Meijing Shen, Yu Zhao, Huabo Tong, Kaifeng Wu, He Zha

Objective

To evaluate the diagnostic value of loop-mediated isothermal amplification(LAMP) chip method (hereinafter referred to as "LAMP") in the detection of pathogens in children with lower respiratory tract infections(LRTIs).

Methods

Sputum samples from 1723 children with LRTIs hospitalized from April 2020 to April 2021 were collected. Pathogen detection was performed using both LAMP and sputum culture method(SCM).Detection rates and consistency between the two methods were analyzed using the Chi-square test and Kappa analysis.

Results

The positive detection rates of the LAMP and the SCM were 58.97 %(1016/1723) and 43.64 %(752/1723), respectively(P<0.001). The detection rates of Streptococcus pneumoniae (Spn)(24.26 %/13.52 %), Staphylococcus aureus(Sau)(13.12 %/10.39 %), Acinetobacter baumannii (Aba)(1.33 %/0.48 %), Stenotrophomonas maltophilia (Sma)(0.58 %/0.12 %), and Haemophilus influenzae(Hin)(31.05 %/16.19 %) were significantly higher with the LAMP than with the SCM(P<0.05). Both methods showed that single infections were predominant among children, with positive rates of 65.06 % and 87.23 %, respectively, with Hin(49.92 %/33.69 %) being the most common pathogen.In mixed infections, the positive rates were 34.94 % and 12.77 %, respectively, with mixed infections of Hin and Spn being the most common, accounting for 48.89 % and 32.29 % of cases, respectively. There were significant differences in the detection rates of Spn, Sau, Klebsiella pneumoniae(Kpn), Sma, Hin, and Escherichia coli(Eco) between single and mixed infections(P < 0.05). The detection results of Spn, Sau, Kpn, Hin, and Eco exhibited high consistency between the two methods, while the consistency for Pseudomonas aeruginosa(Pae), Aba, and Sma was lower.

Conclusion

The LAMP is simpler, faster, more sensitive and specific than SCM, offering a reliable laboratory diagnostic basis for clinical management of LRTIs in children.
目的 评价环介导等温扩增芯片法(LAMP)(以下简称 "LAMP")在下呼吸道感染(LRTI)患儿病原体检测中的诊断价值。方法 收集2020年4月至2021年4月期间住院的1723名LRTI患儿的痰标本。结果 LAMP 和 SCM 的阳性检出率分别为 58.97 %(1016/1723)和 43.64 %(752/1723)(P<0.001)。肺炎链球菌(Spn)(24.26 %/13.52 %)、金黄色葡萄球菌(Sau)(13.12 %/10.39 %)、鲍曼不动杆菌(Aba)(1.33 %/0.48 %)、嗜麦芽血单胞菌(Sma)(0.58 %/0.12 %)和流感嗜血杆菌(Hin)(31.05 %/16.19 %)。两种方法均显示,单一感染在儿童中占主导地位,阳性率分别为 65.06 % 和 87.23 %,其中 Hin(49.92 %/33.69 %)是最常见的病原体;在混合感染中,阳性率分别为 34.94 % 和 12.77 %,其中 Hin 和 Spn 混合感染最常见,分别占 48.89 % 和 32.29 %。Spn、Sau、肺炎克雷伯菌(Kpn)、Sma、Hin和大肠埃希菌(Eco)的检出率在单一感染和混合感染之间存在明显差异(P <0.05)。两种方法对 Spn、Sau、Kpn、Hin 和 Eco 的检测结果一致性较高,而对铜绿假单胞菌(Pae)、Aba 和 Sma 的检测结果一致性较低。
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引用次数: 0
Indirect reference intervals for TSH in a sample of lebanese pregnant women 黎巴嫩孕妇样本中TSH的间接参考间隔
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-03-08 DOI: 10.1016/j.plabm.2025.e00460
Dollen Eid , Nizar El Bcherawi , Georges Abi Tayeh , Nada El Ghorayeb , Marie-Hélène Gannagé-Yared

Background

Thyroid dysfunction in pregnant women can lead to fetal complications. Thyroid-stimulating hormone (TSH) is the key hormone for diagnosis of thyroid dysfunction. No previous study has established reference intervals (RI) for TSH in Lebanese pregnant women. The objective of this study is to define the TSH RIs for each trimester of pregnancy in healthy Lebanese pregnant women using an indirect method.

Materials and methods

This retrospective study included 287 pregnancies selected from the records of an obstetric clinic at Hôtel-Dieu de France University Hospital from January 2021 to May 2023. A control group of 103 non-pregnant women was also included in the study. The collected TSH values were stratified by trimester (first and second) of pregnancy and postpartum. After applying the exclusion criteria, a total of 458 TSH values were included in the analysis.

Results

The respective medians and RIs for TSH during the first, second pregnancy trimesters and postpartum are 1.57 (0.43–3.20 mIU/L), 1.84 (0.56–4.41 mIU/L), and 1.38 (0.30–3.60 mIU/L), while for the control group it is 1.66 (0.64–4.24 mIU/L). There is a significant correlation between TSH values in the first trimester and those in the second trimester and postpartum (p ≤ 0.001 and p = 0.002 respectively). No significant correlation was observed between age and TSH levels in the first and second trimesters and as well as in postpartum.

Conclusion

Our RIs are close to the revised American Thyroid Association (ATA) recommendations. Further research is needed to understand the mechanisms and clinical impact of these differences.
背景:孕妇甲状腺功能障碍可导致胎儿并发症。促甲状腺激素(TSH)是诊断甲状腺功能障碍的关键激素。以前没有研究确定黎巴嫩孕妇TSH的参考区间(RI)。本研究的目的是使用间接方法确定健康黎巴嫩孕妇妊娠每个孕期的TSH RIs水平。材料和方法本回顾性研究选取了2021年1月至2023年5月期间Hôtel-Dieu法兰西大学医院产科门诊287例妊娠病例。研究还包括103名未怀孕妇女作为对照组。收集的TSH值按妊娠初、中期和产后进行分层。应用排除标准后,共有458个TSH值被纳入分析。结果妊娠1、2期及产后TSH的中位值和RIs分别为1.57 (0.43 ~ 3.20 mIU/L)、1.84 (0.56 ~ 4.41 mIU/L)、1.38 (0.30 ~ 3.60 mIU/L),对照组为1.66 (0.64 ~ 4.24 mIU/L)。妊娠早期TSH值与妊娠中期及产后TSH值有显著相关性(p≤0.001,p = 0.002)。在妊娠早期和中期以及产后,年龄和TSH水平之间没有明显的相关性。结论:我们的ri接近修订后的美国甲状腺协会(ATA)推荐值。需要进一步的研究来了解这些差异的机制和临床影响。
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引用次数: 0
Biogenic amine testing in the South African public health care system 南非公共卫生保健系统中的生物胺检测
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-01-28 DOI: 10.1016/j.plabm.2025.e00457
D. Legg-E’Silva , E.M. Cave , T. Snyman, S. Currin, N. Kone, K.L. Prigge

Background

Phaeochromocytoma, paraganglioma and neuroblastoma are catecholamine secreting neuroendocrine tumours. Biochemical screening for suspected cases of these tumours involves the measurement of catecholamines and their metabolites in either urine or plasma. The South African National Health Laboratory service (NHLS) measures urine fractionated metanephrines (UMF) and normetanephrines (UNF), urine vanillylmandelic acid (UVMA) and urine homovanillic acid (UHVA).

Objectives

To analyse the demographic, biochemical and testing patterns of patients’ UMF, UNF, UVMA and UHVA in the NHLS.

Methods

Data from January 2015 to December 2016 for all patients undergoing UMF, UNF, UVMA and UHVA testing was extracted from the NHLS central data warehouse. Neuroendocrine tumours were biochemically diagnosed when results were >2x multiples of the upper reference limits. Multiple testing was defined as ≥2 tests within a 14-day period. Ethnicity was determined through hot-deck imputation.

Results

Biochemically abnormal test results were identified by UMF/UNF measurements in 98.2 % of cases. In 1.8 % of cases, the addition of UVMA resulted in a previously unidentified biochemical positive. Adult white and coloured populations have significantly less biochemically positive UMF results compared to the African population. Multiple testing resulted in discordant results for 12.8 % of UMF and 13.1 % of UNF testing.

Conclusion

UVMA testing for phaeochromocytoma and paraganglioma offers little benefit over testing with UMF alone. Requesting consecutive multiple samples is preferred, however, a single 24-h fractionated UMF/UNF is efficient and cost-effective for phaeochromocytoma and paraganglioma screening, with further testing recommended when clinically indicated. African individuals are more likely to have raised catecholamines and requires further investigation.
背景嗜铬细胞瘤、副神经节瘤和神经母细胞瘤是分泌儿茶酚胺的神经内分泌肿瘤。对这些肿瘤疑似病例的生化筛查包括测量尿液或血浆中的儿茶酚胺及其代谢物。南非国家卫生实验室服务(NHLS)测量尿分离肾上腺素(UMF)和去甲肾上腺素(UNF)、尿香草酸(UVMA)和尿同型香草酸(UHVA)。目的分析国家健康保险系统患者UMF、UNF、UVMA和UHVA的人口学、生化和检测模式。方法从NHLS中央数据仓库中提取2015年1月至2016年12月所有接受UMF、UNF、UVMA和UHVA检测的患者的数据。当结果为参考上限的2倍时,生物化学诊断神经内分泌肿瘤。多次检测定义为14天内≥2次检测。种族是通过热甲板归罪法确定的。结果98.2%的病例通过UMF/UNF检测发现生化异常。在1.8%的病例中,UVMA的加入导致了先前未知的生化阳性。与非洲人口相比,成年白人和有色人种的生物化学阳性UMF结果明显较少。多重测试导致12.8%的UMF和13.1%的UNF测试结果不一致。结论uvma检测对嗜铬细胞瘤和副神经节瘤的检测效果与单独使用UMF检测相比效果不大。然而,对于嗜铬细胞瘤和副神经节瘤筛查而言,单个24小时分离UMF/UNF是高效且经济的,临床需要时建议进行进一步检测。非洲人更有可能产生儿茶酚胺,这需要进一步的调查。
{"title":"Biogenic amine testing in the South African public health care system","authors":"D. Legg-E’Silva ,&nbsp;E.M. Cave ,&nbsp;T. Snyman,&nbsp;S. Currin,&nbsp;N. Kone,&nbsp;K.L. Prigge","doi":"10.1016/j.plabm.2025.e00457","DOIUrl":"10.1016/j.plabm.2025.e00457","url":null,"abstract":"<div><h3>Background</h3><div>Phaeochromocytoma, paraganglioma and neuroblastoma are catecholamine secreting neuroendocrine tumours. Biochemical screening for suspected cases of these tumours involves the measurement of catecholamines and their metabolites in either urine or plasma. The South African National Health Laboratory service (NHLS) measures urine fractionated metanephrines (UMF) and normetanephrines (UNF), urine vanillylmandelic acid (UVMA) and urine homovanillic acid (UHVA).</div></div><div><h3>Objectives</h3><div>To analyse the demographic, biochemical and testing patterns of patients’ UMF, UNF, UVMA and UHVA in the NHLS.</div></div><div><h3>Methods</h3><div>Data from January 2015 to December 2016 for all patients undergoing UMF, UNF, UVMA and UHVA testing was extracted from the NHLS central data warehouse. Neuroendocrine tumours were biochemically diagnosed when results were &gt;2x multiples of the upper reference limits. Multiple testing was defined as ≥2 tests within a 14-day period. Ethnicity was determined through hot-deck imputation.</div></div><div><h3>Results</h3><div>Biochemically abnormal test results were identified by UMF/UNF measurements in 98.2 % of cases. In 1.8 % of cases, the addition of UVMA resulted in a previously unidentified biochemical positive. Adult white and coloured populations have significantly less biochemically positive UMF results compared to the African population. Multiple testing resulted in discordant results for 12.8 % of UMF and 13.1 % of UNF testing.</div></div><div><h3>Conclusion</h3><div>UVMA testing for phaeochromocytoma and paraganglioma offers little benefit over testing with UMF alone. Requesting consecutive multiple samples is preferred, however, a single 24-h fractionated UMF/UNF is efficient and cost-effective for phaeochromocytoma and paraganglioma screening, with further testing recommended when clinically indicated. African individuals are more likely to have raised catecholamines and requires further investigation.</div></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"44 ","pages":"Article e00457"},"PeriodicalIF":1.7,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143140812","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
Preparation of recombinant myoglobin and investigation of the liquid antigen stability for quality control materials 重组肌红蛋白的制备及液抗原稳定性的研究
IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-01-28 DOI: 10.1016/j.plabm.2025.e00456
Yu-Hui Wang, Xi-Feng Sun, Chun-Xin Xu, Feng-Qiang Sun, Rong-Rong Wang, Xiao-Kun Bian, Zhan-Zhao Wang, Qiang Wu
Myoglobin (Mb) has been used as a biomarker for acute myocardial infarction. This study aimed to evaluate the stability of liquid Mb as quality control materials for Mb determination. Mb protein was expressed in Escherichia coli system and purified using Ni2+ chelate affinity chromatography. The purity of purified recombinant Mb reached to 95 %. The immunoreactivity of Mb was investigated using Mb assay kits. The coefficient of determination (R2) of the curve fitted with dilution ratio and Mb concentration as variables was greater than 0.95, which indicated that Mb had good immunoreactivity. The concentrations per gradient measured using different kits had no significant difference (p-value>0.05), which indicated that the reactivity between the Mb antigen and Mb antibodies with different epitopes was good. The effects of different storage buffer, storage temperature and storage times on the stability of liquid Mb were investigated by detecting the concentration changes. At 2–8 °C for two months, Mb concentration in buffer B (Tris-HCl, pH 7.8, containing 1 % BSA and 0.05 % NaN3) decreased within 10 % compared with the initial concentration. The long-term storage stability was investigated by the thermal acceleration experiment. At 37 °C for one week, Mb concentration decreased by less than 15 %, indicating that the Mb had good long-term storage stability. The prepared liquid Mb had good immunoreactivity and stability, avoiding storage in freeze-dried powder. It was a promising alternative as the quality control material for Mb detection.
肌红蛋白(Mb)已被用作急性心肌梗死的生物标志物。本研究旨在评价液态微量元素作为微量元素测定的质量控制材料的稳定性。Mb蛋白在大肠杆菌体系中表达,采用Ni2+螯合亲和层析纯化。重组Mb的纯度可达95%。采用Mb检测试剂盒检测Mb的免疫反应性。以稀释比和Mb浓度为变量拟合曲线的决定系数R2均大于0.95,表明Mb具有良好的免疫反应性。不同试剂盒测定的每梯度浓度无显著差异(p值>;0.05),说明不同表位的Mb抗原与Mb抗体的反应性较好。通过检测其浓度变化,考察了不同储存缓冲液、储存温度和储存时间对液态Mb稳定性的影响。在2-8°C条件下,缓冲液B (Tris-HCl, pH 7.8,含1% BSA和0.05% NaN3)中Mb浓度较初始浓度下降10%以内。通过热加速实验考察了其长期贮存稳定性。在37℃下放置一周,Mb浓度下降幅度小于15%,表明Mb具有良好的长期储存稳定性。制备的Mb液具有良好的免疫反应性和稳定性,可避免冻干粉储存。作为Mb检测的质控材料,是一种很有前途的选择。
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Practical Laboratory Medicine
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