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Standards and Practice Guidelines for Venous Blood Collection: Consensus Recommendations from the Korean Society for Laboratory Medicine. 静脉血采集的标准和实践指南:韩国检验医学学会的一致建议。
IF 4 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-07-01 Epub Date: 2025-06-17 DOI: 10.3343/alm.2025.0022
Jeonghyun Chang, Sooin Choi, Hanwool Cho, Sollip Kim, Jae-Woo Chung, Soo Jin Yoo, Eun Young Song, Sail Chun

High-quality specimens are essential for accurate laboratory results. Preanalytical errors due to issues, such as hemolysis, microclotting, and insufficient specimen volume, account for 60%-70% of laboratory errors and frequently result from improper blood collection techniques or negligence during the collection process. Therefore, standardized blood collection guidelines and continuous education are required. In Korea, standardized venous blood collection procedures have not yet been fully established, highlighting the need for an evidence-based protocol tailored to local requirements. The venous blood collection guideline presented here was adapted from international standards to conform to globally recognized practices and address the Korean clinical context. The guideline, developed by the Korean Society for Laboratory Medicine, outlines the critical steps in venous blood collection, from patient identification and consent to post-collection handling. Practical recommendations are provided for medical students, doctors, nurses, and medical technologists. The guideline addresses specific considerations for pediatric and older patients, as well as individuals undergoing blood culture tests, with an emphasis on minimizing errors and promoting the safety of patients and medical staff. The guideline includes practical tools, such as checklists and detailed information on sampling devices, to facilitate implementation. This initiative would help standardize blood collection practices, improve specimen quality, and enhance patient care by ensuring accurate laboratory results in clinical settings.

高质量的标本对准确的实验室结果至关重要。溶血、微凝和标本量不足等问题导致的分析前错误占实验室错误的60%-70%,通常是由于采血技术不当或采血过程中的疏忽造成的。因此,需要标准化的采血指南和持续的教育。在韩国,标准化的静脉血采集程序尚未完全建立,这突出表明需要制定适合当地需求的循证方案。这里提出的静脉血采集指南是根据国际标准改编的,以符合全球公认的做法,并解决韩国的临床情况。该指南由韩国检验医学学会(Korean Society for Laboratory Medicine)制定,概述了静脉血采集的关键步骤,从患者识别和同意到采集后的处理。为医学生、医生、护士和医疗技术人员提供了实用的建议。该指南涉及儿科和老年患者以及接受血培养试验的个人的具体考虑,重点是尽量减少错误并促进患者和医务人员的安全。该指南包括实用工具,如检查清单和采样设备的详细信息,以促进实施。这一举措将有助于标准化血液采集实践,提高标本质量,并通过确保临床环境中准确的实验室结果来加强对患者的护理。
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引用次数: 0
XN-1000 Hematology Analyzer as an Alternative to Flow Cytometry for Measuring Residual Cells in Blood Components. XN-1000血液学分析仪作为流式细胞术的替代,用于测量血液成分中的残留细胞。
IF 4 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-07-01 Epub Date: 2025-02-12 DOI: 10.3343/alm.2024.0448
Anita Siller, Lisa Seekircher, Daniela Schmidt, Lena Tschiderer, Peter Willeit, Harald Schennach, Marco Amato

Background: Measuring residual cells in blood products is legally required for monitoring the manufacturing process and ensuring recipient safety. We compared the accuracy and performance of the two methodologies.

Methods: Residual white blood cells (rWBCs), red blood cells (rRBCs), and platelets (rPLTs) were measured in RBC concentrates (rWBCs), fresh frozen plasma (rWBCs, rRBCs, and rPLTs), and PLT concentrates (rWBCs and rRBCs) using the Sysmex XN-1000 hematology analyzer (Sysmex, Kobe, Japan) equipped with Blood Bank mode and standard flow cytometry (fluorescence-activated cell sorting; FACS).

Results: rWBC counts in RBC concentrates and plasma were similar between XN-1000 and FACS. In pooled pathogen-inactivated PLT concentrates, XN-1000 yielded higher rWBC counts. Correlations between XN-1000 and FACS were moderate for rWBCs (0.42, 95% confidence interval: 0.15-0.69) in RBC inline-filtrated WBC-depleted RBC concentrates. In plasma, correlations were high for rWBC, rRBC, and rPLT counts, with Spearman correlation coefficients of 0.82-0.97. In pathogen-inactivated PLT concentrates, correlations were moderate for rWBCs (0.58, 0.33-0.84) and rRBCs (0.61, 0.35-0.87) in pooled samples but not significant in apheresis-derived samples. Median differences between FACS and XN-1000 were generally low, but XN-1000 overestimated residual cell counts in a subset of measurements. Residual cell cut-off values were surpassed in >90% of RBC concentrates, plasma, and apheresis pathogen-inactivated PLT concentrates using both methods. In pooled pathogen-inactivated PLT concentrates, 91.2% and 70.6% surpassed the cut-off using FACS and XN-1000, respectively.

Conclusions: Sysmex XN-1000 is suitable for residual cell measurements in RBC concentrates and plasma, with some limitations for PLT concentrates.

背景:法律要求测量血液制品中的残留细胞,以监测生产过程并确保受体安全。我们比较了两种方法的准确性和性能。方法:使用Sysmex XN-1000血液学分析仪(Sysmex, Kobe, Japan)检测红细胞浓缩物(rwbc)、新鲜冷冻血浆(rwbc、rrbc和rPLTs)和血小板浓缩物(rwbc和rrbc)中的残余白细胞(rwbc)、红细胞(rrbc)和血小板(rPLTs),该分析仪配备血库模式和标准流式细胞仪(荧光激活细胞分选;流式细胞仪)。结果:XN-1000与FACS红细胞浓缩物和血浆中rWBC计数相近。在混合的病原体灭活的PLT浓缩物中,XN-1000产生更高的rWBC计数。XN-1000与FACS在红细胞内联滤过的贫红细胞浓缩物中rwbc的相关性为中等(0.42,95%可信区间:0.15-0.69)。在血浆中,rWBC、rRBC和rPLT计数的相关性很高,Spearman相关系数为0.82-0.97。在病原体灭活的PLT浓缩物中,混合样本中rwbc(0.58, 0.33-0.84)和rrbc(0.61, 0.35-0.87)的相关性中等,但在分离来源的样本中不显著。FACS和XN-1000之间的中位数差异通常较低,但XN-1000在测量的子集中高估了剩余细胞计数。残余细胞切断值在⟩中超过90%的RBC浓缩物,血浆和单胞分离病原体灭活的PLT浓缩物使用这两种方法。在病原体灭活的PLT浓缩液中,使用FACS和XN-1000分别有91.2%和70.6%超过临界值。结论:Sysmex XN-1000适用于红细胞浓缩物和血浆中残留细胞的测定,但对血小板浓缩物有一定的局限性。
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引用次数: 0
Pancreatic Cancer Detection and Differentiation from Chronic Pancreatitis: Potential Biomarkers Identified through a High-Throughput Multiplex Proteomic Assay and Machine Learning-Based Analysis. 胰腺癌的检测和慢性胰腺炎的分化:通过高通量多重蛋白质组学分析和基于机器学习的分析确定的潜在生物标志物。
IF 4 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-07-01 Epub Date: 2025-04-02 DOI: 10.3343/alm.2024.0492
Young-Gon Kim, Sang-Mi Kim, Soo-Youn Lee

Background: Pancreatic cancer (PC)-screening methods have limited accuracy despite their high clinical demand. Differential diagnosis of chronic pancreatitis (CP) poses another challenge for PC diagnosis. Therefore, we aimed to identify blood protein biomarkers for PC diagnosis and differential diagnosis of CP using high-throughput multiplex proteomic analysis.

Methods: Two independent cohorts (N=88 and 80) were included, and residual serum samples were collected from all individuals (N=168). Each cohort consisted of four groups: healthy (H) individuals and those with CP, stage I/II PC (PC1), or stage III/IV PC (PC2). Protein expression in the first cohort was quantified using the Olink Immuno-Oncology and Oncology 3 proximity extension assay (PEA) panels and was analyzed using machine-learning (ML)-based analyses. Samples in the second cohort were utilized to verify candidate biomarkers in immunoassays.

Results: Both the PEA and immunoassay results confirmed that previously recognized biomarkers, such as the mucin-16 and interleukin-6 proteins, were more highly expressed in the PC (PC1 and PC2) groups than in the non-PC (CP and H) groups. Several novel biomarkers for PC diagnosis were identified via ML-based feature extraction, including C1QA and CDHR2, whereas pro-neuropeptide Y (NPY) appeared to be a promising biomarker for the differential diagnosis of CP. Applying XGBoost classification incorporating the selected features resulted in an area under the curve of 0.92 (0.85-0.98) for differentiating the PC group from the CP and H groups.

Conclusions: Promising blood biomarkers for PC diagnosis and differential diagnosis of CP were identified using a PEA platform and ML techniques.

背景:胰腺癌(PC)筛查方法的准确性有限,尽管其临床需求很高。慢性胰腺炎(CP)的鉴别诊断对PC的诊断提出了另一个挑战。因此,我们的目的是利用高通量多重蛋白质组学分析确定PC诊断和CP鉴别诊断的血液蛋白质生物标志物。方法:纳入两个独立的队列(N=88和80),收集所有个体的残留血清样本(N=168)。每个队列由四组组成:健康(H)个体和CP患者,I/II期PC (PC1)或III/IV期PC (PC2)。第一个队列的蛋白表达使用Olink免疫肿瘤学和肿瘤学3接近扩展测定(PEA)面板进行量化,并使用基于机器学习(ML)的分析进行分析。第二队列的样本用于验证免疫测定中的候选生物标志物。结果:PEA和免疫分析结果证实,先前识别的生物标志物,如粘蛋白-16和白细胞介素-6蛋白,在PC (PC1和PC2)组中的表达高于非PC (CP和H)组。通过基于ml的特征提取,我们发现了几种新的PC诊断生物标志物,包括C1QA和CDHR2,而前神经肽Y (NPY)似乎是一种很有希望用于CP鉴别诊断的生物标志物。应用结合所选特征的XGBoost分类,PC组与CP组和H组的鉴别曲线下面积为0.92(0.85-0.98)。结论:利用PEA平台和ML技术,确定了有希望用于PC诊断和CP鉴别诊断的血液生物标志物。
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引用次数: 0
MYD88 L265P Variant Detection with Droplet Digital PCR in Waldenström Macroglobulinemia: Clinical Implications as a Tumor Burden and Prognostic Marker. 用液滴数字PCR检测Waldenström巨球蛋白血症中MYD88 L265P变异:作为肿瘤负担和预后标志物的临床意义
IF 4.9 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-06-27 DOI: 10.3343/alm.2024.0644
Woo Jin Shin,Yoo Jin Kang,Aram Kim,Jeong-Ok Lee,Sang Mee Hwang
Waldenström macroglobulinemia (WM) is a B-cell lymphoproliferative disease characterized by IgM monoclonal gammopathy and bone marrow (BM) infiltration caused by lymphoplasmacytic lymphoma. The MYD88 L265P variant is present in >90% of WM cases. We used droplet digital PCR (ddPCR) to detect MYD88 L265P in initial BM samples from 15 patients with WM and assessed the implication of variant burden as a tumor load and prognostic marker. MYD88 L265P burden correlated with clinical indicators, including peripheral blood and BM lymphocyte percentages (P <0.001 and P =0.003, respectively), serum lactate dehydrogenase level (P =0.045), and platelet count (P =0.003). Patients classified into intermediate and high groups according to the Revised International Prognostic Score System for WM had higher MYD88 L265P copies/μL than patients in very low and low groups (P =0.017), as had patients with minor response or stable disease after primary treatment than those with complete, partial, or very good partial response (P =0.034). MYD88 L265P burden correlates well with multiple clinical indicators and has prognostic relevance, making it a potential marker for assessing tumor burden and predicting prognosis in WM.
Waldenström巨球蛋白血症(macroglobulinemia, WM)是一种由淋巴浆细胞性淋巴瘤引起的以IgM单克隆伽玛病和骨髓浸润为特征的b细胞淋巴增生性疾病。MYD88 L265P变异存在于90%的WM病例中。我们使用液滴数字PCR (ddPCR)在15例WM患者的初始BM样本中检测MYD88 L265P,并评估变异负荷作为肿瘤负荷和预后标志物的意义。MYD88 L265P负荷与外周血、BM淋巴细胞百分比(P <0.001、P =0.003)、血清乳酸脱氢酶水平(P =0.045)、血小板计数(P =0.003)等临床指标相关。根据修订的WM国际预后评分系统分为中高组的患者MYD88 L265P拷贝数/μL高于极低组和低组(P =0.017),初级治疗后轻度缓解或病情稳定的患者MYD88 L265P拷贝数/μL高于完全、部分或非常好的部分缓解的患者(P =0.034)。MYD88 L265P负荷与多个临床指标相关性良好,具有预后相关性,可作为评估WM肿瘤负荷、预测预后的潜在指标。
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引用次数: 0
MYD88 L265P Variant Detection with Droplet Digital PCR in Waldenström Macroglobulinemia: Clinical Implications as a Tumor Burden and Prognostic Marker. 用液滴数字PCR检测Waldenström巨球蛋白血症中MYD88 L265P变异:作为肿瘤负担和预后标志物的临床意义
IF 4 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-06-27 DOI: 10.3343/alm.2024.0644
Woo Jin Shin, Yoo Jin Kang, Aram Kim, Jeong-Ok Lee, Sang Mee Hwang

Waldenström macroglobulinemia (WM) is a B-cell lymphoproliferative disease characterized by IgM monoclonal gammopathy and bone marrow (BM) infiltration caused by lymphoplasmacytic lymphoma. The MYD88 L265P variant is present in >90% of WM cases. We used droplet digital PCR (ddPCR) to detect MYD88 L265P in initial BM samples from 15 patients with WM and assessed the implication of variant burden as a tumor load and prognostic marker. MYD88 L265P burden correlated with clinical indicators, including peripheral blood and BM lymphocyte percentages (P <0.001 and P =0.003, respectively), serum lactate dehydrogenase level (P =0.045), and platelet count (P =0.003). Patients classified into intermediate and high groups according to the Revised International Prognostic Score System for WM had higher MYD88 L265P copies/μL than patients in very low and low groups (P =0.017), as had patients with minor response or stable disease after primary treatment than those with complete, partial, or very good partial response (P =0.034). MYD88 L265P burden correlates well with multiple clinical indicators and has prognostic relevance, making it a potential marker for assessing tumor burden and predicting prognosis in WM.

Waldenström巨球蛋白血症(macroglobulinemia, WM)是一种由淋巴浆细胞性淋巴瘤引起的以IgM单克隆伽玛病和骨髓浸润为特征的b细胞淋巴增生性疾病。MYD88 L265P变异存在于90%的WM病例中。我们使用液滴数字PCR (ddPCR)在15例WM患者的初始BM样本中检测MYD88 L265P,并评估变异负荷作为肿瘤负荷和预后标志物的意义。MYD88 L265P负荷与外周血、BM淋巴细胞百分比(P =0.003)、血清乳酸脱氢酶水平(P =0.045)、血小板计数(P =0.003)等临床指标相关。根据修订的WM国际预后评分系统分为中高组的患者MYD88 L265P拷贝数/μL高于极低组和低组(P =0.017),初级治疗后轻度缓解或病情稳定的患者MYD88 L265P拷贝数/μL高于完全、部分或非常好的部分缓解的患者(P =0.034)。MYD88 L265P负荷与多个临床指标相关性良好,具有预后相关性,可作为评估WM肿瘤负荷、预测预后的潜在指标。
{"title":"<i>MYD88</i> L265P Variant Detection with Droplet Digital PCR in Waldenström Macroglobulinemia: Clinical Implications as a Tumor Burden and Prognostic Marker.","authors":"Woo Jin Shin, Yoo Jin Kang, Aram Kim, Jeong-Ok Lee, Sang Mee Hwang","doi":"10.3343/alm.2024.0644","DOIUrl":"https://doi.org/10.3343/alm.2024.0644","url":null,"abstract":"<p><p>Waldenström macroglobulinemia (WM) is a B-cell lymphoproliferative disease characterized by IgM monoclonal gammopathy and bone marrow (BM) infiltration caused by lymphoplasmacytic lymphoma. The <i>MYD88</i> L265P variant is present in >90% of WM cases. We used droplet digital PCR (ddPCR) to detect <i>MYD88</i> L265P in initial BM samples from 15 patients with WM and assessed the implication of variant burden as a tumor load and prognostic marker. <i>MYD88</i> L265P burden correlated with clinical indicators, including peripheral blood and BM lymphocyte percentages (<i>P</i> <0.001 and <i>P</i> =0.003, respectively), serum lactate dehydrogenase level (<i>P</i> =0.045), and platelet count (<i>P</i> =0.003). Patients classified into intermediate and high groups according to the Revised International Prognostic Score System for WM had higher <i>MYD88</i> L265P copies/μL than patients in very low and low groups (<i>P</i> =0.017), as had patients with minor response or stable disease after primary treatment than those with complete, partial, or very good partial response (<i>P</i> =0.034). <i>MYD88</i> L265P burden correlates well with multiple clinical indicators and has prognostic relevance, making it a potential marker for assessing tumor burden and predicting prognosis in WM.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144504686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants. 基于SLC25A13致病变异综合分析的东亚和韩国人柠檬素缺乏的携带者频率和流行程度
IF 4.9 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-06-24 DOI: 10.3343/alm.2024.0631
Mi-Ae Jang,Won Young Heo,Jong Kwon Lee,Jong-Won Kim,Sang-Mi Kim,Ja-Hyun Jang,Hyung-Doo Park
BackgroundCitrin deficiency is an autosomal recessive disorder caused by pathogenic variants in SLC25A13, presenting with various age-dependent clinical phenotypes and a broad spectrum of severity. However, few studies have examined the frequency and prevalence of citrin deficiency. We aimed to analyze the carrier frequency and disease prevalence in East Asian populations and Koreans.MethodsWe comprehensively reviewed the literature and conducted a cross-sectional study to analyze genomic databases, including the Genome Aggregation Database (gnomAD), Korean Variant Archive (KOVA), and Tohoku Medical Megabank Organization (ToMMo), to identify pathogenic SLC25A13 variants in East Asian populations. A founder 3-kilobase (kb) insertion in intron 16 of SLC25A13 was investigated using whole-genome sequencing data from 681 Koreans with the Linux grep command.ResultsTwenty-three pathogenic SLC25A13 variants were identified, with c.852_855del being the most common. Analysis of data from 17,501 East Asian individuals in the gnomAD and ToMMo databases revealed a carrier frequency of 1 in 62 people. Analysis of data from 7,214 individuals in the gnomAD and KOVA databases revealed a carrier frequency of 1 in 86, corresponding to an estimated disease prevalence of 1 in 29,502. c.1177+1G>A was identified as the most prevalent pathogenic variant in Koreans. The 3 kb insertion in intron 16 was detected in three out of 681 individuals, indicating a carrier frequency of 1 in 228.ConclusionsThe high carrier frequency of citrin deficiency in East Asians highlights the need for enhanced genetic screening and counseling, particularly in Korea, providing a valuable reference for future studies on genetic diversity and pathogenic variants in this population.
citrin缺乏症是一种常染色体隐性遗传病,由SLC25A13的致病变异引起,表现为各种年龄依赖性临床表型和广泛的严重程度。然而,很少有研究调查了柠檬酸缺乏症的频率和流行程度。我们的目的是分析东亚人群和韩国人群的携带者频率和疾病流行情况。方法综合文献,采用横断面研究方法,分析基因组数据库(Genome Aggregation Database, gnomAD)、韩国变异档案(Korean Variant Archive, KOVA)和东北医学大库组织(Tohoku Medical Megabank Organization, ToMMo),以确定东亚人群中致病的SLC25A13变异。利用681名韩国人的全基因组测序数据,用Linux grep命令研究了SLC25A13内含子16上的一个3千碱基(kb)插入。结果共检出23个SLC25A13致病变异,其中以c.852_855del最为常见。对gnomAD和ToMMo数据库中17,501名东亚人的数据分析显示,62人中有1人携带这种基因。对gnomAD和KOVA数据库中7,214人的数据进行分析后发现,携带者频率为1 / 86,相当于估计疾病患病率为1 / 29,502。c.1177+1G>A是韩国人中最常见的致病变异。681个个体中有3个检测到内含子16的3kb插入,表明载体频率为1 / 228。结论东亚人群柠檬酸缺乏症的高携带频率突出了加强遗传筛查和咨询的必要性,特别是在韩国,为进一步研究该人群的遗传多样性和致病变异提供了有价值的参考。
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引用次数: 0
Falsely Elevated Thyroid-Stimulating Hormone Level Due to Macro-TSH Interference: A Case Report. 巨量促甲状腺激素干扰导致促甲状腺激素水平虚高1例报告。
IF 4.9 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-06-19 DOI: 10.3343/alm.2025.0006
Jing Jin,Xueqi Zhang,Songwen Wang,Zhongyan Shan,Weiping Teng,Xiaochun Teng
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引用次数: 0
Advancing Accuracy in Chronic Kidney Disease Diagnosis and Management: Reference Materials and Reference Measurement Procedures for Clinical Markers. 提高慢性肾脏疾病诊断和管理的准确性:临床标志物的参考材料和参考测量程序。
IF 4.9 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-06-18 DOI: 10.3343/alm.2024.0583
Hwee Tong Tan,Qinde Liu,Tang Lin Teo
Chronic kidney disease (CKD) is a major non-communicable disease and a leading cause of mortality worldwide. With the increasing prevalence of risk factors such as diabetes mellitus, obesity, and hypertension in the 21st century, CKD currently affects over 10% of the global population. The clinical and economic burden of this widespread disease is projected to continue to rise worldwide. Early detection, treatment, and monitoring of this progressive condition through accurate clinical laboratory testing of CKD biomarkers are paramount to mitigate this growing healthcare challenge. The development of reference materials (RMs) and reference measurement procedures (RMPs) for these clinical analytes is pivotal to ensuring accurate measurements using in vitro diagnostics. In this review, we emphasize the importance of establishing RMs and RMPs to standardize the measurements of key clinical markers for CKD, i.e., urine and serum creatinine, urine albumin, serum cystatin C, and urea. Standardizing CKD biomarker measurements based on RMs and RMPs can help support global efforts to reduce CKD-related morbidity and healthcare costs by ensuring reliable diagnostic practices.
慢性肾脏疾病(CKD)是一种主要的非传染性疾病,也是世界范围内死亡的主要原因。随着21世纪糖尿病、肥胖、高血压等危险因素的日益流行,CKD目前影响了全球10%以上的人口。这一广泛疾病的临床和经济负担预计将在世界范围内继续增加。通过对CKD生物标志物进行准确的临床实验室检测,早期发现、治疗和监测这一进展性疾病,对于缓解这一日益增长的医疗挑战至关重要。这些临床分析物的标准物质(RMs)和参考测量程序(RMPs)的开发对于确保使用体外诊断进行准确测量至关重要。在这篇综述中,我们强调建立均方根值和均方根值对于标准化CKD关键临床指标的测量的重要性,即尿和血清肌酐、尿白蛋白、血清胱抑素C和尿素。标准化基于均方根和均方根的CKD生物标志物测量可以通过确保可靠的诊断实践,帮助支持全球减少CKD相关发病率和医疗成本的努力。
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引用次数: 0
Advances in Circulating Biomarkers for Neurodegenerative Diseases, Traumatic Brain Injuries, and Central Nervous System Tumors. 神经退行性疾病、创伤性脑损伤和中枢神经系统肿瘤循环生物标志物研究进展
IF 4.9 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-06-18 DOI: 10.3343/alm.2024.0611
Ming Yang,Allison Zhang,Meng Chen,Jing Cao
Neurological disorders, including neurodegenerative diseases, traumatic brain injuries (TBI), and central nervous system (CNS) tumors, are complex conditions that significantly impact patients globally. Timely diagnosis and monitoring are critical for improving outcomes, driving the need for reliable biomarkers. Specifically, biomarkers detectable in cerebrospinal fluid (CSF) and blood offer important insights into disease presence and progression. This review explores the evolution of circulating blood biomarkers for neurodegenerative diseases, TBI, and CNS tumors, highlighting advanced detection technologies from enzyme-linked immunosorbent assays (ELISAs) to electrochemiluminescence (ECL) assays, single-molecule arrays (Simoa), and mass spectrometry. Advanced technologies with enhanced sensitivity and specificity, particularly in detecting low-abundance analytes, facilitate the investigation of CSF biomarkers for various neurological disorders. We also describe the progress in blood-based biomarkers for , emerging as less invasive alternatives to CSF sampling. Clinically, the implementation of Alzheimer's disease (AD) blood biomarkers Aβ42/Aβ40 ratio and Apolipoprotein E isoform-specific peptide can aid the diagnosis, while p-tau181 and p-tau217 differentiates AD dementia from non-AD neurodegenerative diseases. Blood glial fibrillary acidic protein and ubiquitin C-terminal hydrolase-L1 are used in ruling out mild TBI. Despite these innovations, challenges remain, including assay standardization, sensitivity/specificity trade-offs, and the requirement for longitudinal studies to understand biomarker utility over time. Future research should focus on addressing these challenges to fully realize the potential of blood-based biomarkers in neurological disorder diagnostics and patient care.
神经系统疾病,包括神经退行性疾病、创伤性脑损伤(TBI)和中枢神经系统(CNS)肿瘤,是严重影响全球患者的复杂疾病。及时诊断和监测对于改善结果至关重要,这推动了对可靠生物标志物的需求。具体来说,在脑脊液(CSF)和血液中检测到的生物标志物为疾病的存在和进展提供了重要的见解。本文综述了循环血液生物标志物在神经退行性疾病、TBI和中枢神经系统肿瘤中的发展,重点介绍了从酶联免疫吸附测定(elisa)到电化学发光(ECL)测定、单分子阵列(Simoa)和质谱分析等先进检测技术。先进的技术具有更高的灵敏度和特异性,特别是在检测低丰度分析物方面,有助于研究各种神经系统疾病的脑脊液生物标志物。我们还描述了基于血液的生物标志物的进展,作为脑脊液取样的侵入性较小的替代品。临床上,阿尔茨海默病(AD)血液生物标志物Aβ42/Aβ40比值和载脂蛋白E亚型特异性肽可以帮助诊断,而p-tau181和p-tau217可以区分AD痴呆与非AD神经退行性疾病。血液胶质纤维酸性蛋白和泛素c端水解酶- l1用于排除轻度TBI。尽管有这些创新,挑战仍然存在,包括分析标准化,敏感性/特异性权衡,以及纵向研究的要求,以了解生物标志物随时间的效用。未来的研究应集中于解决这些挑战,以充分发挥血液生物标志物在神经疾病诊断和患者护理中的潜力。
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引用次数: 0
Clinical Utility of Monitoring Circulating Tumor DNA Using a Targeted Next-generation Sequencing Panel in Patients with Colorectal Cancer. 使用靶向新一代测序面板监测结直肠癌患者循环肿瘤DNA的临床应用
IF 4.9 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-06-18 DOI: 10.3343/alm.2024.0598
Hyoeun Shim,Soobeen Heo,Jiyu Sun,Moon Ki Choi,Sung Chan Park,Chang Won Hong,Seong Hoon Kim,Seog-Yun Park,Sun-Young Kong,Ji Yeon Baek
BackgroundCirculating tumor DNA (ctDNA) profiling from peripheral blood allows relatively noninvasive monitoring of solid tumors; however, its utility post-surgery or chemotherapy in colorectal cancer remains underexplored. We evaluated the clinical implications of a ctDNA next-generation sequencing (NGS) panel post-surgery or chemotherapy in patients with colorectal cancer.MethodsWe collected samples from 23 patients with colorectal cancer (17 men, median age 65 yrs) at baseline and post-surgery or chemotherapy at the National Cancer Center, Korea, between January 2021 and September 2023. ctDNA was analyzed using an NGS panel including 46 genes, and variant allele frequencies (VAFs) were determined. Follow-up samples were analyzed using the NGS panel or droplet digital PCR (ddPCR) when probes were available. Clinical status was compared with ctDNA results, and survival was analyzed using a time-dependent Cox model.ResultsMutations were identified in 13 out of 14 patients (92.8%) with stage II/III cancer and in all nine patients (100%) with stage IV cancer. Mutations were detected in KRAS (N=15, 65%), APC (N=8, 35%), TP53 (N=7, 30%), PIK3CA (N=5, 22%), and RET (N=4, 17%). A 1% increase in KRAS and TP53 VAFs was associated with 48% and 32% increased mortality risk, respectively. Changes in VAF correlated well with clinical findings.ConclusionsThe detection of and an increase in KRAS and TP53 VAFs were associated with poor prognosis. ddPCR-based ctDNA monitoring results were comparable to those obtained with the NGS panel. ctDNA monitoring during treatment is clinically informative in managing colorectal cancer.
来自外周血的循环肿瘤DNA (ctDNA)谱分析允许对实体肿瘤进行相对无创的监测;然而,它在结直肠癌手术或化疗后的应用仍未得到充分探索。我们评估了ctDNA下一代测序(NGS)面板在结直肠癌患者手术或化疗后的临床意义。方法:我们收集了2021年1月至2023年9月期间在韩国国立癌症中心基线和术后或化疗期间的23例结直肠癌患者(17名男性,中位年龄65岁)的样本。采用包含46个基因的NGS面板分析ctDNA,并确定变异等位基因频率(VAFs)。在有探针的情况下,使用NGS面板或液滴数字PCR (ddPCR)分析后续样品。将临床状态与ctDNA结果进行比较,并使用时间依赖的Cox模型分析生存期。结果14例II/III期癌症患者中有13例(92.8%)发现了突变,9例IV期癌症患者中(100%)发现了突变。KRAS (N=15, 65%)、APC (N=8, 35%)、TP53 (N=7, 30%)、PIK3CA (N=5, 22%)和RET (N=4, 17%)检测到突变。KRAS和TP53 VAFs每增加1%,死亡风险分别增加48%和32%。VAF的变化与临床表现密切相关。结论VAFs中KRAS和TP53的检测及升高与预后不良有关。基于ddpcr的ctDNA监测结果与NGS面板获得的结果相当。治疗期间的ctDNA监测对结直肠癌的治疗具有临床参考价值。
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Annals of Laboratory Medicine
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