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Thyroglobulin measurement is the most powerful outcome predictor in differentiated thyroid cancer: a decision tree analysis in a European multicenter series. 甲状腺球蛋白测量是分化型甲状腺癌最有力的预后指标:欧洲多中心系列研究的决策树分析。
IF 6.8 2区 医学 Q1 Medicine Pub Date : 2024-05-07 DOI: 10.1515/cclm-2024-0405
Luca Giovanella, Lisa Milan, Wolfgang Roll, Manuel Weber, Simone Schenke, Michael Kreissl, Alexis Vrachimis, Kim Pabst, Tuncel Murat, Petra Petranović Ovčariček, Alfredo Campenni, Rainer Görges, Luca Ceriani

Objectives: An accurate prognostic assessment is pivotal to adequately inform and individualize follow-up and management of patients with differentiated thyroid cancer (DTC). We aimed to develop a predictive model for recurrent disease in DTC patients treated by surgery and 131I by adopting a decision tree model.

Methods: Age, sex, histology, T stage, N stage, risk classes, remnant estimation, thyroid-stimulating hormone (TSH), thyroglobulin (Tg), administered 131I activities and post-therapy whole body scintigraphy (PT-WBS) were identified as potential predictors and put into regression algorithm (conditional inference tree, c-tree) to develop a risk stratification model for predicting persistent/recurrent disease over time.

Results: The PT-WBS pattern identified a partition of the population into two subgroups (PT-WBS positive or negative for distant metastases). Patients with distant metastases exhibited lower disease-free survival (either structural, DFS-SD, and biochemical, DFS-BD, disease) compared to those without metastases. Meanwhile, the latter were further stratified into three risk subgroups based on their Tg values. Notably, Tg values >63.1 ng/mL predicted a shorter survival time, with increased DFS-SD for Tg values <63.1 and <8.9 ng/mL, respectively. A comparable model was generated for biochemical disease (BD), albeit different DFS were predicted by slightly different Tg cutoff values (41.2 and 8.8 ng/mL) compared to DFS-SD.

Conclusions: We developed a simple, accurate and reproducible decision tree model able to provide reliable information on the probability of structurally and/or biochemically persistent/relapsed DTC after a TTA. In turn, the provided information is highly relevant to refine the initial risk stratification, identify patients at higher risk of reduced structural and biochemical DFS, and modulate additional therapies and the relative follow-up.

目的:准确的预后评估是为分化型甲状腺癌(DTC)患者的随访和管理提供充分信息并使之个体化的关键。我们的目的是通过决策树模型建立一个预测模型,用于预测接受手术和 131I 治疗的 DTC 患者的复发疾病:方法:将年龄、性别、组织学、T期、N期、风险分级、残余估计、促甲状腺激素(TSH)、甲状腺球蛋白(Tg)、131I活性和治疗后全身闪烁扫描(PT-WBS)作为潜在的预测因素,并将其纳入回归算法(条件推理树,c-tree),建立了一个风险分层模型,用于预测持续/复发疾病的时间:PT-WBS模式将人群划分为两个亚组(远处转移PT-WBS阳性或阴性)。与无远处转移的患者相比,有远处转移的患者无病生存期(结构性无病生存期(DFS-SD)和生化性无病生存期(DFS-BD))较低。同时,根据 Tg 值将后者进一步分为三个风险亚组。值得注意的是,Tg 值 >63.1 纳克/毫升预示着生存时间较短,Tg 值越高,DFS-SD 越高:我们开发了一种简单、准确且可重复的决策树模型,能够提供可靠的信息,说明 TTA 后 DTC 在结构上和/或生化上持续存在/复发的概率。反过来,所提供的信息对于完善初始风险分层、识别结构和生化 DFS 下降风险较高的患者、调整额外疗法和相对随访非常重要。
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引用次数: 0
Insight into the status of plasma renin and aldosterone measurement: findings from 526 clinical laboratories in China 血浆肾素和醛固酮测定现状透视:来自中国 526 家临床实验室的研究结果
IF 6.8 2区 医学 Q1 Medicine Pub Date : 2024-04-30 DOI: 10.1515/cclm-2024-0373
Weiyan Zhou, Yuhang Deng, Wenjun Ma, Haijian Zhao, Kaijun Wang, Qian Zhang, Wei Gan, Wenxiang Chen, Jun Cai, Chuanbao Zhang
Objectives Accurate measurements of renin and aldosterone levels play an important role in primary aldosteronism screening, which is of great importance in the management and categorization of hypertension. The objective of this study is to investigate the current status of plasma renin and aldosterone measurements in China, which is achieved by analyzing the results of 526 clinical laboratories nationwide for three pooled fresh plasma samples derived from more than 2,000 patients. Methods Renin and aldosterone in three pooled plasma samples were measured four times in 526 laboratories employing various measurement systems. The inter- and intra-laboratory %CV were calculated and compared. To determine the source of the substantial inter-laboratory %CV, laboratories were categorized according to the measurement systems they are using, and both the inter- and intra-measurement-system %CV were calculated and compared. Results Regarding renin, the majority of laboratories use four primary commercial immunoassays. However, for aldosterone, in addition to commercial immunoassays, laboratory-developed liquid chromatography-tandem mass spectrometry (LC-MS) methods are also used by laboratories. The median values of intra-laboratory %CVs, intra-measurement-system %CVs, inter-laboratory %CVs, and inter-measurement systems %CVs varied between 1.6 and 2.6 %, 4.6 and 14.9 %, 8.3 and 25.7 %, and 10.0 and 34.4 % for renin, respectively. For aldosterone, these values ranged from 1.4 to 2.2 %, 2.5–14.7 %, 9.9–31.0 %, and 10.0–35.5 %, respectively. Conclusions The precision within laboratories and measurement systems for plasma renin and aldosterone measurements is satisfactory. However, the comparability between laboratories using different measurement systems remains lacking, indicating the long way to achieve standardization and harmonization for these two analytes.
目的 准确测定肾素和醛固酮水平在原发性醛固酮增多症筛查中发挥着重要作用,而原发性醛固酮增多症筛查对高血压的管理和分类具有重要意义。本研究旨在调查中国血浆肾素和醛固酮的测定现状,通过分析全国 526 家临床实验室对 2,000 多名患者的三份新鲜血浆样本的测定结果来实现这一目的。方法 526 家实验室采用不同的测量系统对三份血浆样本中的肾素和醛固酮进行了四次测量。计算并比较了实验室间和实验室内的%CV。为了确定实验室间百分比变异率高的原因,根据实验室使用的测量系统对其进行了分类,并计算和比较了测量系统间和测量系统内的百分比变异率。结果 关于肾素,大多数实验室使用四种主要的商业免疫测定法。然而,对于醛固酮,除了商用免疫测定法外,实验室还使用了实验室开发的液相色谱-串联质谱(LC-MS)方法。肾素的实验室内百分比变异系数、测量系统内百分比变异系数、实验室间百分比变异系数和测量系统间百分比变异系数的中值分别为 1.6% 至 2.6%、4.6% 至 14.9%、8.3% 至 25.7%、10.0% 至 34.4%。醛固酮的误差范围分别为 1.4%至 2.2%、2.5%至 14.7%、9.9%至 31.0%,以及 10.0%至 35.5%。结论 血浆肾素和醛固酮测量在实验室和测量系统内的精确度令人满意。但是,使用不同测量系统的实验室之间仍然缺乏可比性,这表明要实现这两种分析物的标准化和统一化还有很长的路要走。
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引用次数: 0
An improved implementation of metrological traceability concepts is needed to benefit from standardization of laboratory results 需要改进计量可追溯性概念的实施,以便从实验室结果标准化中获益
IF 6.8 2区 医学 Q1 Medicine Pub Date : 2024-04-30 DOI: 10.1515/cclm-2024-0428
Mauro Panteghini
Non-harmonization of laboratory results represents a concrete risk for patient safety. To avoid harms, it is agreed that measurements by in vitro diagnostic medical devices (IVD-MD) on clinical samples should be traceable to higher-order references and adjusted to give the same result. However, metrological traceability is not a formal claim and has to be correctly implemented, which in practice does not happen for a non-negligible number of measurands. Stakeholders, such as higher-order reference providers, IVD manufacturers, and External Quality Assessment organizers, have major responsibilities and should improve their contribution by unambiguously and rigorously applying what is described in the International Organization for Standardization 17511:2020 standard and other documents provided by the international scientific bodies, such as Joint Committee on Traceability in Laboratory Medicine and IFCC. For their part, laboratory professionals should take responsibility to abandon non-selective methods and move to IVD-MDs displaying proper selectivity, which is one of the indispensable prerequisites for the correct implementation of metrological traceability. The practicality of metrological traceability concepts is not impossible but relevant education and appropriate training of all involved stakeholders are essential to obtain the expected benefits in terms of standardization.
实验室结果不统一对患者安全构成具体风险。为避免危害,人们一致认为,体外诊断医疗设备(IVD-MD)对临床样本的测量结果应可溯源至更高阶的参照物,并经过调整以得出相同的结果。然而,计量溯源性并不是一种形式上的要求,它必须得到正确实施,而在实践中,有相当数量的测量值并不能做到这一点。利益相关者,如高阶参考品提供商、IVD 制造商和外部质量评估组织者,都负有重大责任,应通过明确、严格地应用国际标准化组织 17511:2020 标准和国际科学机构(如实验室医学可追溯性联合委员会和 IFCC)提供的其他文件中的描述来提高自身的贡献。实验室专业人员应承担起责任,放弃非选择性方法,转而使用具有适当选择性的 IVD-MD,这是正确实施计量学可追溯性不可或缺的先决条件之一。计量可追溯性概念的实用性并非不可能,但要想在标准化方面获得预期效益,就必须对所有相关方进行相关教育和适当培训。
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引用次数: 0
Macroprolactin in mothers and their babies: what is its origin? 母婴体内的巨泌乳素:其来源是什么?
IF 6.8 2区 医学 Q1 Medicine Pub Date : 2024-04-29 DOI: 10.1515/cclm-2024-0235
Norito Nishiyama, Naoki Hattori, Kohozo Aisaka, Masayuki Ishihara, Takanori Saito
Objectives Macroprolactinemia is one of the major causes of hyperprolactinemia. The aim of this study was to clarify the origin of macroprolactin (macro-PRL). Methods We examined macro-PRL in the sera of 826 pregnant women and in those of their babies’ umbilical cords at delivery. Macro-PRL was evaluated by precipitation with polyethylene glycol (PEG), gel filtration chromatography (GFC), and absorption with protein G (PG). Results We detected macro-PRL in 16 out of the 826 pregnant women (1.94 %) and in 14 of their babies, which may indicate the possibility of hereditary origin of macro-PRL. However, the macro-PRL ratios of the babies correlated positively with those of their mothers (r=0.72 for GFC, p<0.001 and r=0.77 for PG, p<0.001), suggesting that the immunoglobulin (Ig)G-type anti-PRL autoantibodies might be actively transferred to babies via the placenta and form macro-PRL by binding to their babies’ PRL or PRL-IgG complexes may possibly pass through the placenta. There were two cases in which only mothers had macro-PRL, indicating that the mothers had autoantibodies that did not pass through the placenta, such as IgA, PRL bound to the other proteins or PRL aggregates. No cases were found in which only the babies had macro-PRL and their mothers did not, suggesting that macro-PRL might not arise by non-hereditary congenital causes. Conclusions Macro-PRL in women of reproductive age might be mostly IgG-type anti-PRL autoantibody-bound PRL. The likely origin of macro-PRL in babies is the transplacental transfer of IgG-type anti-PRL autoantibodies or PRL-IgG complexes from the mothers to their babies.
目的 巨泌乳素血症是导致高泌乳素血症的主要原因之一。本研究旨在阐明巨泌乳素(macro-PRL)的来源。方法 我们检测了 826 名孕妇血清中的巨泌乳素及其分娩时婴儿脐带中的巨泌乳素。通过聚乙二醇(PEG)沉淀法、凝胶过滤色谱法(GFC)和蛋白G(PG)吸收法对巨PRL进行了评估。结果 我们在 826 名孕妇中的 16 名(1.94%)和 14 名婴儿中检测到了巨PRL,这可能表明巨PRL有遗传性。然而,婴儿的巨PRL比率与母亲的比率呈正相关(GFC的r=0.72,p<0.001;PG的r=0.77,p<0.001),这表明免疫球蛋白(Ig)G型抗PRL自身抗体可能会通过胎盘主动转移给婴儿,并通过与婴儿的PRL结合形成巨PRL,或PRL-IgG复合物可能会通过胎盘。有两例只有母亲出现大PRL,这表明母亲体内的自身抗体没有通过胎盘,如IgA、与其他蛋白结合的PRL或PRL聚集体。没有发现只有婴儿有巨PRL而母亲没有的病例,这表明巨PRL可能不是由非遗传性先天性原因引起的。结论 育龄妇女的巨PRL可能主要是IgG型抗PRL自身抗体结合的PRL。婴儿体内的巨PRL可能是IgG型抗PRL自身抗体或PRL-IgG复合物从母亲体内经胎盘转移到婴儿体内。
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引用次数: 0
Diagnostic performance of a point of care high-sensitivity cardiac troponin I assay and single measurement evaluation to rule out and rule in acute coronary syndrome 高灵敏度心肌肌钙蛋白 I 检测和单次测量评估在排除和诊断急性冠状动脉综合征方面的诊断性能
IF 6.8 2区 医学 Q1 Medicine Pub Date : 2024-04-26 DOI: 10.1515/cclm-2024-0225
Vincenzo De Iuliis, Anna Rita Gabriele, Francesca De Santis, Roberta De Rugeriis, Luigi Di Quinzio, Steeve Aloisi, Anna Carla Rosati, Manuela Benvenuto, Donatello Fabiani, Sofia Chiatamone Ranieri
Objectives About 10 million individuals in USA presented annually in the emergency department (ED) with chest pain or with signs and symptoms of acute coronary syndrome (ACS). The advent of point of care (POC) devices, able to measure high sensitivity troponin, are a very interesting tool in the ED setting for its rapid turnaround time (<10 min). Methods The present study evaluates the diagnostic performance of the Atellica VTLi (Siemens) in real life setting using the clinical data derived from integrated diagnoses of emergency room staff and cardiologist and in comparison with standard laboratory hs-cTnT assay (Cobas 8000, Elecsys, Roche). 966 patients admitted to the emergency department of “G. Mazzini Hospital” in Teramo, Italy, from July 27, 2022, through June 09, 2023, were enrolled. Results The diagnostic performance of POC hs-cTnI was evaluated. An appropriate POC hs-cTnI threshold values <4 ng/L supplied a sensitivity and an NPV of 100 % (95 % CI: 99.5–100) in order to achieve rapid rule out for MI through a single measurement at patient presentation in the ED. Furthermore, a derivation POC hs-cTnI concentration >54 ng/L provided a specificity of 97.2 % (95 % CI: 95.9–98.1) and a PPV of 43.5 % (95 % CI: 40.3–46.7) for ruling in MI. Conclusions This platform showed comparable diagnostic performance for myocardial infarction to the central laboratory. Our data suggest the possible use of the Atellica VTLi hs-cTnI POC assay either in emergency department of urban medical centre, either in rural hospital for triage and patient management.
目的 美国每年约有 1,000 万人因胸痛或伴有急性冠状动脉综合症(ACS)的症状和体征而到急诊科就诊。能够测量高灵敏度肌钙蛋白的护理点(POC)设备的出现因其快速的周转时间(10 分钟)而成为急诊科中非常有趣的工具。方法 本研究利用急诊室工作人员和心脏病专家综合诊断得出的临床数据,并与标准实验室 hs-cTnT 检测方法(Cobas 8000,Elecsys,罗氏)进行比较,评估 Atellica VTLi(西门子)在现实生活中的诊断性能。从 2022 年 7 月 27 日至 2023 年 6 月 9 日,意大利泰拉莫 G. Mazzini 医院急诊科收治了 966 名患者。结果 评估了 POC hs-cTnI 的诊断性能。合适的 POC hs-cTnI 阈值为 4 ng/L,灵敏度和 NPV 均为 100%(95% CI:99.5-100),可在急诊室患者就诊时通过一次测量快速排除心肌梗死。此外,推导 POC hs-cTnI 浓度为 54 纳克/升时,排除心肌梗死的特异性为 97.2%(95% CI:95.9-98.1),PPV 为 43.5%(95% CI:40.3-46.7)。结论 该平台对心肌梗死的诊断性能与中心实验室相当。我们的数据表明,Atellica VTLi hs-cTnI POC 检测仪既可用于城市医疗中心的急诊科,也可用于农村医院的分诊和患者管理。
{"title":"Diagnostic performance of a point of care high-sensitivity cardiac troponin I assay and single measurement evaluation to rule out and rule in acute coronary syndrome","authors":"Vincenzo De Iuliis, Anna Rita Gabriele, Francesca De Santis, Roberta De Rugeriis, Luigi Di Quinzio, Steeve Aloisi, Anna Carla Rosati, Manuela Benvenuto, Donatello Fabiani, Sofia Chiatamone Ranieri","doi":"10.1515/cclm-2024-0225","DOIUrl":"https://doi.org/10.1515/cclm-2024-0225","url":null,"abstract":"Objectives About 10 million individuals in USA presented annually in the emergency department (ED) with chest pain or with signs and symptoms of acute coronary syndrome (ACS). The advent of point of care (POC) devices, able to measure high sensitivity troponin, are a very interesting tool in the ED setting for its rapid turnaround time (&lt;10 min). Methods The present study evaluates the diagnostic performance of the Atellica VTLi (Siemens) in real life setting using the clinical data derived from integrated diagnoses of emergency room staff and cardiologist and in comparison with standard laboratory hs-cTnT assay (Cobas 8000, Elecsys, Roche). 966 patients admitted to the emergency department of “G. Mazzini Hospital” in Teramo, Italy, from July 27, 2022, through June 09, 2023, were enrolled. Results The diagnostic performance of POC hs-cTnI was evaluated. An appropriate POC hs-cTnI threshold values &lt;4 ng/L supplied a sensitivity and an NPV of 100 % (95 % CI: 99.5–100) in order to achieve rapid rule out for MI through a single measurement at patient presentation in the ED. Furthermore, a derivation POC hs-cTnI concentration &gt;54 ng/L provided a specificity of 97.2 % (95 % CI: 95.9–98.1) and a PPV of 43.5 % (95 % CI: 40.3–46.7) for ruling in MI. Conclusions This platform showed comparable diagnostic performance for myocardial infarction to the central laboratory. Our data suggest the possible use of the Atellica VTLi hs-cTnI POC assay either in emergency department of urban medical centre, either in rural hospital for triage and patient management.","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":null,"pages":null},"PeriodicalIF":6.8,"publicationDate":"2024-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140797983","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
Quality control in the Netherlands; todays practices and starting points for guidance and future research. 荷兰的质量控制;当今的做法以及指导和未来研究的出发点。
IF 6.8 2区 医学 Q1 Medicine Pub Date : 2024-04-26 DOI: 10.1515/cclm-2024-0316
H. V. van Rossum, Marith van Schrojenstein Lantman, Michel Severens, H. J. Vermeer, W. V. D. Verboeket-van de Venne, Wytze Oosterhuis, Niels de Jonge
OBJECTIVESAdequate analytical quality of reported results is primarily ensured by performing internal quality control (iQC). Currently, several different iQC practices are in use. As a prelude to the revision of a Dutch guidance document on analytical QC, a questionnaire was sent out to gain insights in the applied practices and the need for guidance.METHODSA questionnaire, containing 20 multiple-choice questions with possibilities for explanation and comment on iQC practices and aspects was distributed to all clinical chemistry laboratories within the Netherlands. Results were reported descriptively.RESULTSResponses were received from 27 clinical laboratories (response 43 %). In 30 % the iQC was based on the analytical characteristics only, while 30 % used a 6-Sigma method, 19 % risk-based beyond 6-Sigma and 22 % used an alternative approach. 89 % of laboratories used a virtual analyzer model for iQC setup within one or more laboratory sites. Practices for determining standard deviation (SD) values included determining SD for each new iQC material (35 %), using historical SD values for new materials (35 %), and incorporating clinical tolerances into the SD value (31 %). Furthermore, 44 % of laboratories used patient moving averages for one or more tests. Daily iQC management was based on either "traffic lights" indicating in or out of control status, and review of all QC charts, often using multiple software systems.CONCLUSIONSA large heterogeneity of iQC practices in clinical laboratories was observed in the Netherlands. Several starting points for further research and/or guidance were identified, particularly in relation to the determination of SD values, the virtual analyzer model and methods to ensure analyzer equivalence.
目的 主要通过内部质量控制(iQC)来确保报告结果具有足够的分析质量。目前,有几种不同的 iQC 方法在使用。作为修订荷兰分析质量控制指导文件的前奏,我们向荷兰所有临床化学实验室发放了一份调查问卷,以深入了解应用实践和对指导文件的需求。结果共收到 27 家临床实验室的回复(回复率为 43%)。30%的实验室仅根据分析特性进行 iQC,30%的实验室采用 6 西格玛方法,19%的实验室在 6 西格玛方法之外采用基于风险的方法,22%的实验室采用其他方法。89 % 的实验室使用虚拟分析仪模型在一个或多个实验室内建立 iQC。确定标准偏差(SD)值的做法包括为每种新的 iQC 材料确定 SD 值(35%),使用新材料的历史 SD 值(35%),以及将临床容差纳入 SD 值(31%)。此外,44% 的实验室在一项或多项检测中使用患者移动平均值。日常的 iQC 管理是基于 "交通灯 "指示控制中或控制外状态,以及对所有 QC 图表的审查,通常使用多个软件系统。结果发现,荷兰临床实验室的 iQC 实践存在很大差异,需要进一步研究和/或指导,特别是在确定 SD 值、虚拟分析仪模型和确保分析仪等效性的方法方面。
{"title":"Quality control in the Netherlands; todays practices and starting points for guidance and future research.","authors":"H. V. van Rossum, Marith van Schrojenstein Lantman, Michel Severens, H. J. Vermeer, W. V. D. Verboeket-van de Venne, Wytze Oosterhuis, Niels de Jonge","doi":"10.1515/cclm-2024-0316","DOIUrl":"https://doi.org/10.1515/cclm-2024-0316","url":null,"abstract":"OBJECTIVES\u0000Adequate analytical quality of reported results is primarily ensured by performing internal quality control (iQC). Currently, several different iQC practices are in use. As a prelude to the revision of a Dutch guidance document on analytical QC, a questionnaire was sent out to gain insights in the applied practices and the need for guidance.\u0000\u0000\u0000METHODS\u0000A questionnaire, containing 20 multiple-choice questions with possibilities for explanation and comment on iQC practices and aspects was distributed to all clinical chemistry laboratories within the Netherlands. Results were reported descriptively.\u0000\u0000\u0000RESULTS\u0000Responses were received from 27 clinical laboratories (response 43 %). In 30 % the iQC was based on the analytical characteristics only, while 30 % used a 6-Sigma method, 19 % risk-based beyond 6-Sigma and 22 % used an alternative approach. 89 % of laboratories used a virtual analyzer model for iQC setup within one or more laboratory sites. Practices for determining standard deviation (SD) values included determining SD for each new iQC material (35 %), using historical SD values for new materials (35 %), and incorporating clinical tolerances into the SD value (31 %). Furthermore, 44 % of laboratories used patient moving averages for one or more tests. Daily iQC management was based on either \"traffic lights\" indicating in or out of control status, and review of all QC charts, often using multiple software systems.\u0000\u0000\u0000CONCLUSIONS\u0000A large heterogeneity of iQC practices in clinical laboratories was observed in the Netherlands. Several starting points for further research and/or guidance were identified, particularly in relation to the determination of SD values, the virtual analyzer model and methods to ensure analyzer equivalence.","PeriodicalId":10390,"journal":{"name":"Clinical chemistry and laboratory medicine","volume":null,"pages":null},"PeriodicalIF":6.8,"publicationDate":"2024-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140652611","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
Novel thiopurine S-methyltransferase (TPMT) variant identified in Malay individuals. 在马来人中发现新的硫嘌呤 S-甲基转移酶(TPMT)变体。
IF 6.8 2区 医学 Q1 Medicine Pub Date : 2024-04-26 DOI: 10.1515/cclm-2024-0494
Chun Kiat Lee, Pei-Tee Huan, Chean Nee Chai, Li Jie Ng, Evelyn Siew-Chuan Koay, Ogestelli Fabia Lee, Malcolm Tan, T. P. Loh
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引用次数: 0
Skin in the game: a review of single-cell and spatial transcriptomics in dermatological research. 游戏中的皮肤:单细胞和空间转录组学在皮肤病研究中的应用综述。
IF 6.8 2区 医学 Q1 Medicine Pub Date : 2024-04-25 DOI: 10.1515/cclm-2023-1245
Samuel Schepps, Jonathan Xu, Henry Yang, Jenna Mandel, Jaanvi Mehta, Julianna Tolotta, Nicole Baker, Volkan Tekmen, Neda Nikbakht, Paolo Fortina, Ignacia Fuentes, Bonnie LaFleur, Raymond J Cho, Andrew P South
Single-cell RNA sequencing (scRNA-seq) and spatial transcriptomics (ST) are two emerging research technologies that uniquely characterize gene expression microenvironments on a cellular or subcellular level. The skin, a clinically accessible tissue composed of diverse, essential cell populations, serves as an ideal target for these high-resolution investigative approaches. Using these tools, researchers are assembling a compendium of data and discoveries in healthy skin as well as a range of dermatologic pathophysiologies, including atopic dermatitis, psoriasis, and cutaneous malignancies. The ongoing advancement of single-cell approaches, coupled with anticipated decreases in cost with increased adoption, will reshape dermatologic research, profoundly influencing disease characterization, prognosis, and ultimately clinical practice.
单细胞 RNA 测序(scRNA-seq)和空间转录组学(ST)是两种新兴的研究技术,它们能在细胞或亚细胞水平上独特地描述基因表达微环境。皮肤是一种临床可及的组织,由多种多样的重要细胞群组成,是这些高分辨率研究方法的理想目标。利用这些工具,研究人员正在汇集健康皮肤以及特应性皮炎、银屑病和皮肤恶性肿瘤等一系列皮肤病病理生理方面的数据和发现。单细胞方法的不断进步,以及随着采用率的提高而预期成本的降低,将重塑皮肤病学研究,对疾病特征描述、预后和最终临床实践产生深远影响。
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引用次数: 0
Computational pathology: an evolving concept. 计算病理学:一个不断发展的概念。
IF 6.8 2区 医学 Q1 Medicine Pub Date : 2024-04-23 DOI: 10.1515/cclm-2023-1124
Ioannis Prassas, Blaise Clarke, Timothy Youssef, Juliana Phlamon, Lampros Dimitrakopoulos, Andrew Rofaeil, George M Yousef
The initial enthusiasm about computational pathology (CP) and artificial intelligence (AI) was that they will replace pathologists entirely on the way to fully automated diagnostics. It is becoming clear that currently this is not the immediate model to pursue. On top of the legal and regulatory complexities surrounding its implementation, the majority of tested machine learning (ML)-based predictive algorithms do not display the exquisite performance needed to render them unequivocal, standalone decision makers for matters with direct implications to human health. We are thus moving into a different model of "computer-assisted diagnostics", where AI is there to provide support, rather than replacing, the pathologist. Herein we focus on the practical aspects of CP, from a pathologist perspective. There is a wide range of potential applications where CP can enhance precision of pathology diagnosis, tailor prognostic and predictive information, as well as save time. There are, however, a number of potential limitations for CP that currently hinder their wider adoption in the clinical setting. We address the key necessary steps towards clinical implementation of computational pathology, discuss the significant obstacles that hinders its adoption in the clinical context and summarize some proposed solutions. We conclude that the advancement of CP in the clinic is a promising resource-intensive endeavour that requires broad and inclusive collaborations between academia, industry, and regulatory bodies.
人们最初对计算病理学(CP)和人工智能(AI)的热情在于,它们将在实现全自动诊断的道路上完全取代病理学家。但现在看来,这显然不是当务之急。除了围绕其实施的法律和监管方面的复杂性之外,大多数经过测试的基于机器学习(ML)的预测算法并没有显示出所需的精湛性能,使其成为对人类健康有直接影响的问题的明确、独立的决策者。因此,我们正在进入一种不同的 "计算机辅助诊断 "模式,即人工智能为病理学家提供支持,而不是取代病理学家。在这里,我们从病理学家的角度出发,重点讨论计算机辅助诊断的实际问题。计算机辅助病理诊断可以提高病理诊断的精确度,提供预后和预测信息,并节省时间,其潜在应用范围非常广泛。然而,目前 CP 存在一些潜在的局限性,阻碍了其在临床环境中的广泛应用。我们探讨了计算病理学临床应用的关键必要步骤,讨论了阻碍其临床应用的重大障碍,并总结了一些建议的解决方案。我们的结论是,将计算病理学应用于临床是一项前景广阔的资源密集型工作,需要学术界、业界和监管机构之间广泛而包容的合作。
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引用次数: 0
Confounding factors of the expression of mTBI biomarkers, S100B, GFAP and UCH-L1 in an aging population 老龄人口中 mTBI 生物标志物 S100B、GFAP 和 UCH-L1 表达的干扰因素
IF 6.8 2区 医学 Q1 Medicine Pub Date : 2024-04-21 DOI: 10.1515/cclm-2024-0194
Emma Calluy, Charlotte Beaudart, Majed S. Alokail, Nasser M. Al-Daghri, Olivier Bruyère, Jean-Yves Reginster, Etienne Cavalier, Aurélie Ladang
Objectives To evaluate some confounding factors that influence the concentrations of S100 calcium binding protein B (S100B), glial fibrillary acidic protein (GFAP), and ubiquitin carboxyl-terminal hydrolase L-1 (UCH-L1) in older individuals. Indeed, recent guidelines have proposed the combined use of S100B and the “GFAP-UCH-L1” mTBI test to rule out mild traumatic brain injuries (mTBI). As older adults are the most at risk of mTBI, it is particularly important to understand the confounding factors of those mTBI rule-out biomarkers in aging population. Methods The protein S100B and the “GFAP and UCH-L1” mTBI test were measured using Liaison XL (Diasorin) and Alinity I (Abbott), respectively, in 330 and 341 individuals with non-suspected mTBI from the SarcoPhAge cohort. Results S100B, GFAP and UCH-L1 were all significantly correlated with renal function whereas alcohol consumption, Geriatric Depression Score (GDS), smoking habits and anticoagulant intake were not associated with any of these three biomarkers. Body mass index (BMI) and age were associated with GFAP and UCH-L1 expression while sex and mini-mental state examination (MMSE) were only associated with GFAP. According to the manufacturer’s cut-offs for mTBI rule-out, only 5.5 % of participants were positive for S100B whereas 66.9 % were positive for the “GFAP-UCH-L1” mTBI test. All positive “GFAP-UCH-L1” mTBI tests were GFAP+/UCH-L1-. Among individuals with cystatin C>1.55 mg/L, 25 % were positive for S100B while 90 % were positive for the mTBI test. Conclusions Our data show that confounding factors have different impacts on the positivity rate of the “GFAP-UCH-L1” mTBI test compared to S100B.
目的 评估影响老年人 S100 钙结合蛋白 B(S100B)、胶质纤维酸性蛋白(GFAP)和泛素羧基末端水解酶 L-1 (UCH-L1)浓度的一些干扰因素。事实上,最近的指南已建议联合使用 S100B 和 "GFAP-UCH-L1 "mTBI 检测来排除轻度脑外伤(mTBI)。由于老年人是轻微创伤性脑损伤的高危人群,因此了解在老年人群中排除轻微创伤性脑损伤的生物标志物的混杂因素尤为重要。方法 使用 Liaison XL(Diasorin)和 Alinity I(Abbott)分别对 SarcoPhAge 队列中的 330 名和 341 名非疑似 mTBI 患者进行了蛋白质 S100B 和 "GFAP 和 UCH-L1 "mTBI 检测。结果 S100B、GFAP 和 UCH-L1 均与肾功能显著相关,而饮酒量、老年抑郁评分 (GDS)、吸烟习惯和抗凝剂摄入量与这三种生物标记物中的任何一种均无关联。体重指数(BMI)和年龄与 GFAP 和 UCH-L1 表达相关,而性别和小型精神状态检查(MMSE)仅与 GFAP 相关。根据制造商提供的 mTBI 排除临界值,只有 5.5% 的参与者 S100B 呈阳性,而 66.9% 的参与者在 "GFAP-UCH-L1 "mTBI 检测中呈阳性。所有在 "GFAP-UCH-L1 "mTBI 检测中呈阳性的人都是 GFAP+/UCH-L1-。在胱抑素 C>1.55 mg/L 的个体中,25% 的人 S100B 检测呈阳性,而 90% 的人 mTBI 检测呈阳性。结论 我们的数据表明,与 S100B 相比,混杂因素对 "GFAP-UCH-L1 "mTBI 检测阳性率的影响不同。
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Clinical chemistry and laboratory medicine
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