Journal of Clinical Laboratory Analysis最新文献

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CYP2C19 Loss-of-Function Is an Independent Risk Factor of Coronary Artery Disease in Patients With Hypertension CYP2C19功能丧失是高血压患者冠状动脉疾病的独立危险因素
IF 2.9 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2025-07-25 DOI: 10.1002/jcla.70088
Guoliang Wei, Bin Li, Hao Wang, Wenhao Chen, Kehui Chen, Weihong Wang, Shen Wang, Hui Zeng, Yuanliang Liu, Yue Zeng, Hui Rao
{"title":"CYP2C19 Loss-of-Function Is an Independent Risk Factor of Coronary Artery Disease in Patients With Hypertension","authors":"Guoliang Wei,&nbsp;Bin Li,&nbsp;Hao Wang,&nbsp;Wenhao Chen,&nbsp;Kehui Chen,&nbsp;Weihong Wang,&nbsp;Shen Wang,&nbsp;Hui Zeng,&nbsp;Yuanliang Liu,&nbsp;Yue Zeng,&nbsp;Hui Rao","doi":"10.1002/jcla.70088","DOIUrl":"10.1002/jcla.70088","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Cytochrome P450 2C19 (CYP2C19) is affected by its gene polymorphisms and is involved in the occurrence and development of diseases. To assess the relationship between <i>CYP2C19</i> polymorphisms and coronary artery disease (CAD) susceptibility in hypertensive patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study retrospectively analyzed 3404 hypertensive patients who were admitted to Meizhou People's Hospital from November 2019 to August 2023, including 1438 CAD patients and 1966 nonCAD individuals. The <i>CYP2C19</i> rs4244285 (681G&gt;A, *2) and rs4986893 (636G&gt;A, *3) polymorphisms were genotyped by polymerase chain reaction (PCR)-chip technique. The relationship between <i>CYP2C19</i> polymorphisms and CAD was analyzed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There were 1567 (46.0%), 1491 (43.8%), and 346 (10.2%) individuals with <i>CYP2C19</i> extensive metabolizer (EM) (<i>CYP2C19</i>*1/*1), intermediate metabolizer (IM) (<i>CYP2C19</i>*1/*2 and *1/*3), and poor metabolizer (PM) (<i>CYP2C19</i>*2/*2, *2/*3, and *3/*3) phenotype. The CAD patients had higher frequencies of the *2 allele (30.2% vs. 26.0%, <i>p</i> &lt; 0.001), *3 allele (4.9% vs. 3.8%, <i>p</i> = 0.021) and lower frequency of *1 allele (64.8% vs. 70.2%, <i>p</i> &lt; 0.001) than controls. Logistic regression analysis showed that body mass index (BMI) ≥ 24.0 kg/m<sup>2</sup> (odds ratio (OR): 1.364, 95% confidence interval (CI): 1.184–1.571, <i>p</i> &lt; 0.001), history of alcoholism (OR: 1.761 95% CI: 1.211–2.559, <i>p</i> = 0.003), and <i>CYP2C19</i> IM + PM phenotypes (IM + PM vs. EM, OR: 1.314, 95% CI: 1.145–1.508, <i>p</i> &lt; 0.001) were independent risk factors for CAD in hypertensive patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p><i>CYP2C19</i> loss-of-function, BMI ≥ 24.0 kg/m<sup>2</sup>, and history of alcoholism were independent risk factors for CAD in hypertensive patients. Hypertensive patients who carried <i>CYP2C19</i> loss-of-function need to be aware of the risk of developing CAD, and it provides further evidence for the relationship between CYP2C19 and CAD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 18","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70088","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144717998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Serum Circ-DLGAP4 and miR-9 as Potential Biomarkers in Pancreatic Cancer 血清Circ-DLGAP4和miR-9作为胰腺癌的潜在生物标志物
IF 2.9 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2025-07-25 DOI: 10.1002/jcla.70076
Marwa A. Ali, Olfat G. Shaker, Eman M. Ezzat, Mohamed Saad Zaghloul Ahmed, Shimaa Mohammed Elasmer, Marwa Mamdouh Ahmed Abdelhafeez, Mohamed Zaidan, Raghda Yahia Abu El-Ela, Marwa N. AbdelHafez, Eman Fares, Ahmad A. Al Abdulqader, Aeshah A. Awaji, Mariam K. Alamoudi, Omayma O. Abdelaleem
{"title":"Serum Circ-DLGAP4 and miR-9 as Potential Biomarkers in Pancreatic Cancer","authors":"Marwa A. Ali,&nbsp;Olfat G. Shaker,&nbsp;Eman M. Ezzat,&nbsp;Mohamed Saad Zaghloul Ahmed,&nbsp;Shimaa Mohammed Elasmer,&nbsp;Marwa Mamdouh Ahmed Abdelhafeez,&nbsp;Mohamed Zaidan,&nbsp;Raghda Yahia Abu El-Ela,&nbsp;Marwa N. AbdelHafez,&nbsp;Eman Fares,&nbsp;Ahmad A. Al Abdulqader,&nbsp;Aeshah A. Awaji,&nbsp;Mariam K. Alamoudi,&nbsp;Omayma O. Abdelaleem","doi":"10.1002/jcla.70076","DOIUrl":"10.1002/jcla.70076","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Pancreatic cancer remains one of the malignancies characterized by the most insidious onset and dire prognosis. Preliminary diagnostic biomarkers are essential for timely identification and improved prognosis. CircularRNA-DLGAP4 (Circ-DLGAP4) and microRNA-9 (miR-9) are intriguing, easily accessible genetic indicators for numerous diseases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To quantify serum expression levels of Circ-DLGAP4 and miR-9 in pancreatic cancer patients and juxtapose these values with those of control persons to assess their potential as diagnostic biomarkers. It also aims to correlate their expression levels with the clinicopathological features of the disease.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Quantitative analysis of serum samples collected from 40 pancreatic cancer patients and 40 control subjects with RT-PCR.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There were statistically significant elevations in blood levels of Circ-DLGAP4 and miR-9 in pancreatic cancer patients compared to healthy persons, with median (range) values of 8.2 (0.39–17.32), <i>p</i>-value &lt; 0.001, and 9.5 (4.06–14.7), respectively. The blood level of Circ-DLGAP4 exhibited a significant positive correlation with the serum concentration of miR-9 (<i>r</i> = 0.89, <i>p</i> = 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Circ-DLGAP4 and miR-9 serve as diagnostic biomarkers for pancreatic cancer.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 16","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70076","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Performance Evaluation of a New HRD Assay (HRDsig) in Ovarian Carcinomas in Australia 一种新的HRD测定法(HRDsig)在澳大利亚卵巢癌中的性能评价。
IF 2.9 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2025-07-19 DOI: 10.1002/jcla.70085
Pranav Dorwal, Liyan Song, Priscillia Siswara, Amit Kumar, Julie Robin, Noel Djitro, Anna Fong Na Goh, Ravikiran Vedururu, Bin Yuan, Ashleigh Levine, Suzanne Svobodova, Beena Kumar
{"title":"Performance Evaluation of a New HRD Assay (HRDsig) in Ovarian Carcinomas in Australia","authors":"Pranav Dorwal,&nbsp;Liyan Song,&nbsp;Priscillia Siswara,&nbsp;Amit Kumar,&nbsp;Julie Robin,&nbsp;Noel Djitro,&nbsp;Anna Fong Na Goh,&nbsp;Ravikiran Vedururu,&nbsp;Bin Yuan,&nbsp;Ashleigh Levine,&nbsp;Suzanne Svobodova,&nbsp;Beena Kumar","doi":"10.1002/jcla.70085","DOIUrl":"10.1002/jcla.70085","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Homologous recombination repair (HRR) is the preferred pathway for repairing double-strand DNA breaks, using proteins like BRCA1 and BRCA2, among others, while the PARP-mediated repair pathway is primarily used for single-strand breaks. When a tumour becomes HRR-deficient (HRD), then those tumour cells become reliant on PARP-mediated repair. Poly ADP-ribose polymerase inhibitors, olaparib and niraparib, have been approved in Australia for advanced (FIGO III-IV), high-grade serous or other high-grade ovarian, fallopian tube or primary peritoneal carcinoma with homologous recombination deficiency (HRD).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>HRDsig (Roche Inc) is a new HRD biomarker that is part of the AVENIO Tumor Tissue CGP Kit V2. We have studied the performance of HRDsig against two NATA (National Association of Testing Authorities, Australia) accredited HRD assays in the cases of high-grade ovarian carcinomas. We have evaluated the performance of HRDsig using a total 40 HRD results against the two accredited HRD assays, as well as against commercial controls and inter-laboratory comparison samples.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>HRDsig has demonstrated a high concordance rate for HRD by comparing it with two different locally accredited HRD assays in cases of ovarian cancers.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These findings provide real-world evidence of the performance of a new HRD assay (HRDsig) in ovarian carcinomas.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 17","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70085","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144667747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Application of Six Sigma to Assess the Analytical Performance of Plasma Proteins and Design a Risk-Based Statistical Quality Control Strategy: A Multicenter Study 应用六西格玛评估血浆蛋白分析性能及设计基于风险的统计质量控制策略:一项多中心研究。
IF 2.9 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2025-07-18 DOI: 10.1002/jcla.70080
Ming Hu, Jiaping Wang, Huan Yang, Sugang Zang, Tingting Gao, Jian Zeng, Fumeng Yang
{"title":"The Application of Six Sigma to Assess the Analytical Performance of Plasma Proteins and Design a Risk-Based Statistical Quality Control Strategy: A Multicenter Study","authors":"Ming Hu,&nbsp;Jiaping Wang,&nbsp;Huan Yang,&nbsp;Sugang Zang,&nbsp;Tingting Gao,&nbsp;Jian Zeng,&nbsp;Fumeng Yang","doi":"10.1002/jcla.70080","DOIUrl":"10.1002/jcla.70080","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This study applied the six sigma model to evaluate plasma protein testing performance in six laboratories, with customized quality control programs and targeted improvements introduced where necessary.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Internal quality control (IQC) and external quality assessment (EQA) data for plasma proteins were gathered from six laboratories. Sigma values for each analyte were determined based on the coefficient of variation (CV), bias, and total allowable error (TEa). Using six sigma performance verification charts, we calibrated analyte performance and, guided by Westgard sigma rules, batch length, and quality goal index (QGI), developed laboratory-specific quality control schemes and improvement plans.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Despite standardized platforms and reagents, sigma values showed significant inter-laboratory variation, with some differences also observed within labs at varying analyte concentrations. For projects with sigma &lt; 6, tailored quality control measures were implemented, leading to marked performance improvements.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The six sigma model provides an objective framework for evaluating plasma protein test performance and enhancing quality. It enables quantitative assessment of laboratory management and supports the development and implementation of customized, risk-based statistical quality control (SQC) strategies and improvement measures across multiple laboratory systems.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 16","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70080","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144659362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Determination of Biotin Interference in Pediatric Obesity Related ELISA Research Kits Biotin Interference in Manual ELISA Kits 小儿肥胖相关ELISA试剂盒中生物素干扰的测定
IF 2.9 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2025-07-14 DOI: 10.1002/jcla.70079
Ezgi Kürkçü Kahraman, Orkide Donma, Mustafa Metin Donma, Ahsen Yılmaz, Savaş Güzel
{"title":"Determination of Biotin Interference in Pediatric Obesity Related ELISA Research Kits Biotin Interference in Manual ELISA Kits","authors":"Ezgi Kürkçü Kahraman,&nbsp;Orkide Donma,&nbsp;Mustafa Metin Donma,&nbsp;Ahsen Yılmaz,&nbsp;Savaş Güzel","doi":"10.1002/jcla.70079","DOIUrl":"10.1002/jcla.70079","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Although high-dose biotin interference in automated immunoassays is now considered, there are very few studies showing biotin interference in manually operated research kits, especially with enzyme-linked immunosorbent assay (ELISA). The aims of our study were to determine the effects of biotin interference on various parameters, including leptin, leptin receptor (LEPR), ghrelin, acylated ghrelin, deacylated ghrelin, ghrelin receptor (GHSR), kisspeptin (KISS1), kisspeptin receptor (KISS1R), preptin, peroxisome proliferator activated receptor gamma (PPARγ), nod-like receptor pyrin domain-containing 3 (NLRP3) and interleukin-18 (IL-18), which contribute to energy homeostasis in healthy and obese children.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Serum pools were prepared from healthy and obese individuals, and biotin concentrations in samples containing different amounts of biotin were measured via sandwich and competitive ELISA methods. In addition, possible biotin interactions were investigated by determining the concentrations of all the study parameters in serum pools containing different amounts of biotin.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We found that the biotin-competitive, ghrelin-competitive, KISS1-competitive, GHSR, leptin and LEPR ELISA kits were less affected by biotin interference and the results of these assay kits were more reliable. Unexpectedly, high levels were also measured in the biotin sandwich ELISA kit, indicating that biotin interference can also occur in manually operated assay kits.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Biotin exhibited an interference effect even in well-functioning, qualified kits, and this negative effect was less common in competitive kits. Biotin interference was closely associated with the quality of the research kit, the parameters studied, and the presence of high biotin concentrations in the blood.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 16","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70079","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort 协调新生儿SCID筛查中的TREC阈值:来自俄罗斯验证队列的见解。
IF 2.9 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2025-07-12 DOI: 10.1002/jcla.70078
Andrey Marakhonov, Ekaterina Kalinina, Sergey Larin, Maryam Khadzhieva, Ekaterina Dudina, Anna Mukhina, Yulia Rodina, Irina Efimova, Natalya Balinova, Irina Sermyagina, Olga Shchagina, Rena Zinchenko, Sergey Voronin, Anna Shcherbina, Sergey Kutsev
{"title":"Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort","authors":"Andrey Marakhonov,&nbsp;Ekaterina Kalinina,&nbsp;Sergey Larin,&nbsp;Maryam Khadzhieva,&nbsp;Ekaterina Dudina,&nbsp;Anna Mukhina,&nbsp;Yulia Rodina,&nbsp;Irina Efimova,&nbsp;Natalya Balinova,&nbsp;Irina Sermyagina,&nbsp;Olga Shchagina,&nbsp;Rena Zinchenko,&nbsp;Sergey Voronin,&nbsp;Anna Shcherbina,&nbsp;Sergey Kutsev","doi":"10.1002/jcla.70078","DOIUrl":"10.1002/jcla.70078","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Newborn screening (NBS) for severe combined immunodeficiency (SCID) relies on the measurement of T-cell receptor excision circle (TREC) for early diagnosis and intervention. However, considerable variation in TREC cutoff values across countries and testing platforms poses challenges for standardization and optimal screening performance. This study aimed to refine the TREC cutoff values in a large Russian pilot NBS cohort comprising 202,908 newborns, with a primary focus on improving SCID detection sensitivity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A retrospective analysis of 202,908 newborns from a pilot NBS project assessed TREC and KREC levels. Confirmed PID diagnoses were compared with TREC measurements in a group of 66 false-positive cases. The optimal TREC cutoff was established using ROC analysis, with validation across patients with SCID, 22q11.2 deletion syndrome (22q11.2DS), and syndromic forms of PID from an extended validation cohort of PID patients from the Dmitry Rogachev National Medical Research Center.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Receiver operating characteristic (ROC) analysis based on true-positive cases identified an optimal TREC cutoff of 150 copies/10<sup>5</sup> cells. Values between 150–200 copies/10<sup>5</sup> cells were found to identify high-risk newborns who require closer monitoring. This threshold was validated in an independent cohort, reducing missed SCID cases while improving the detection of 22q11.2 deletion syndrome and other syndromic primary immunodeficiencies (PIDs). Notably, elevated TREC levels in some SCID patients reflected “leaky” SCID phenotypes, which nonetheless required curative intervention. Additionally, syndromic PIDs and cases of transient idiopathic lymphopenia (TIL) were also more accurately identified, enabling timely clinical management.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These findings emphasize the need for broader evaluation of TREC cutoff values across diverse assay systems to improve the effectiveness, comparability, and global harmonization of NBS programs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 16","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70078","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144618133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ultra-Sensitive Quantification of Indoxyl Sulfate and 3-Carboxy-4-Methyl-5-Propyl-2-Furanpropanoic Acid in Plasma Using Ultra-Performance Liquid Chromatography Coupled to Quadrupole Time-of-Flight Mass Spectrometry 超高效液相色谱-四极杆飞行时间质谱联用超灵敏定量血浆中硫酸吲哚酚和3-羧基-4-甲基-5-丙基-2-呋喃丙酸
IF 2.9 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2025-07-11 DOI: 10.1002/jcla.70077
Jun Negami, Yosuke Suzuki, Haruki Sato, Daiki Toyama, Ayako Oda, Ryota Tanaka, Hiroyuki Ono, Tadasuke Ando, Toshitaka Shin, Hiroki Itoh, Keiko Ohno
{"title":"Ultra-Sensitive Quantification of Indoxyl Sulfate and 3-Carboxy-4-Methyl-5-Propyl-2-Furanpropanoic Acid in Plasma Using Ultra-Performance Liquid Chromatography Coupled to Quadrupole Time-of-Flight Mass Spectrometry","authors":"Jun Negami,&nbsp;Yosuke Suzuki,&nbsp;Haruki Sato,&nbsp;Daiki Toyama,&nbsp;Ayako Oda,&nbsp;Ryota Tanaka,&nbsp;Hiroyuki Ono,&nbsp;Tadasuke Ando,&nbsp;Toshitaka Shin,&nbsp;Hiroki Itoh,&nbsp;Keiko Ohno","doi":"10.1002/jcla.70077","DOIUrl":"10.1002/jcla.70077","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Uremic toxins such as indoxyl sulfate and 3-carboxy-4-methyl-5-propyl-2-furanpropanoic acid (CMPF) are accumulated in patients with chronic kidney disease (CKD). Recent studies have shown that the accumulation of indoxyl sulfate and CMPF alters the activity of organic anion transporting polypeptide (OATP) 1B and cytochrome P450 (CYP) 3A, respectively. We established and validated a novel ultra-sensitive method for simultaneous quantification of indoxyl sulfate and CMPF using ultra-performance liquid chromatography coupled to quadrupole time-of-flight mass spectrometry (UPLC-QTOF/MS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>In this method, plasma samples were prepared by solid phase extraction, then analyzed by UPLC-QTOF/MS to measure concentrations of analytes. Using only 5 μL of human plasma per assay, the calibration range was 0.05–200 μg/mL and the lower limit of quantification was 0.05 μg/mL for both indoxyl sulfate and CMPF.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>This assay met the acceptance criteria of the U.S. Food and Drug Administration bioanalytical method validation guidance. The clinical applicability of this assay was evaluated by measuring plasma concentrations in healthy volunteers and CKD patients. All measured concentrations were within the calibration range.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our novel assay may contribute to the estimation of variation of OATP1B and CYP3A activities in patients, including those with CKD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 16","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70077","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Evaluation of 16p13.11 Deletion and Duplication Syndromes: Preliminary Assessment of Fetal Genotype–Phenotype 16p13.11缺失和重复综合征的产前诊断、超声检查和随访评估:胎儿基因型-表型的初步评估
IF 2.6 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2025-06-19 DOI: 10.1002/jcla.70051
Xiaojin Luo, Liping Wu, Jinshuang Song, Jinmao Xu, Ruchun Huang, Hongyan Niu, Fei Zhou, Yuanyuan Pei, Weiqiang Liu, Fengxiang Wei
{"title":"Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Evaluation of 16p13.11 Deletion and Duplication Syndromes: Preliminary Assessment of Fetal Genotype–Phenotype","authors":"Xiaojin Luo,&nbsp;Liping Wu,&nbsp;Jinshuang Song,&nbsp;Jinmao Xu,&nbsp;Ruchun Huang,&nbsp;Hongyan Niu,&nbsp;Fei Zhou,&nbsp;Yuanyuan Pei,&nbsp;Weiqiang Liu,&nbsp;Fengxiang Wei","doi":"10.1002/jcla.70051","DOIUrl":"10.1002/jcla.70051","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To analyze the ultrasound findings, single nucleotide polymorphism microarray (SNP array) results, pregnancy outcomes, and follow-up information of fetuses with 16p13.11 deletion or duplication.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective study collected data from 14 fetuses diagnosed with 16p13.11 deletion and 12 fetuses with 16p13.11 duplication. The study involved a review and analysis of maternal demographics, ultrasound findings, SNP-array results, pregnancy outcomes, and follow-up information.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The copy number variations (CNVs) observed ranged in size from 0.92 to 2.85 Mb for 16p13.11 deletions and from 0.89 to 2.84 Mb for duplications. These CNVs included seven OMIM genes: <i>NDE1</i>, <i>MYH11</i>, <i>ABCC1</i>, <i>XYLT1</i>, <i>MARF1</i>, <i>CEP20</i>, and <i>ABCC6</i>. Among the 14 fetuses with 16p13.11 deletions, seven (50.0%, 7/14) revealed abnormalities in ultrasound findings. Cardiovascular anomalies were present in five cases (35.7%, 5/14); two cases (14.3%, 2/14) showed lateral ventricular widening. Cases 2 and 14 were particularly noteworthy, as both presented complex malformations affecting multiple organs. Among the 12 fetuses with duplications, five cases (41.7%, 5/12) exhibited ultrasound abnormalities. Of these, three cases (25.0%, 3/12) presented with cardiovascular abnormalities; two cases (16.7%, 2/12) displayed widened lateral ventricles. Case 25 was particularly distinct, featuring complex multiorgan malformations that included widened lateral ventricles, tricuspid regurgitation, and a right ear malformation. Of the eight fetuses with 16p13.11 deletions whose pregnancies were continued, three exhibited neurodevelopmental abnormalities. Ten fetuses with 16p13.11 duplications that were followed up, two cases showed neurodevelopmental abnormalities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our study expanded the clinical phenotype spectrum of fetuses with 16p13.11 deletion and duplication and conducted a preliminary evaluation of prenatal ultrasound findings in conjunction with postnatal clinical phenotypes. The primary manifestations observed in fetuses with 16p13.11 deletion and duplication are likely to be cardiovascular malformations and widened lateral ventricles.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 13","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70051","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Plasma Nerve Growth Factor Is Associated With Early Postoperative Shoulder Stiffness in Patients With Degenerative Rotator Cuff Tears 血浆神经生长因子与退行性肩袖撕裂患者术后早期肩关节僵硬相关
IF 2.6 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2025-06-12 DOI: 10.1002/jcla.70043
ZengXin Li, ZengYan Wang, Bo Sun, DengFeng Wang, JianPing Guo, Hua Pan
{"title":"Plasma Nerve Growth Factor Is Associated With Early Postoperative Shoulder Stiffness in Patients With Degenerative Rotator Cuff Tears","authors":"ZengXin Li,&nbsp;ZengYan Wang,&nbsp;Bo Sun,&nbsp;DengFeng Wang,&nbsp;JianPing Guo,&nbsp;Hua Pan","doi":"10.1002/jcla.70043","DOIUrl":"10.1002/jcla.70043","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study was to investigate the correlation between plasma nerve growth factor (NGF) and postoperative range of motion (ROM) in patients with rotator cuff tears (RCT).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>From January 2022 to March 2024, a total of 135 patients with degenerative RCT were included. The patients were divided into Stiff group (<i>n</i> = 42) and Non-Stiff group (<i>n</i> = 93) accordingly. The receiver operating characteristic curve (ROC) and area under the curve (AUC) were drawn to evaluate the predictive value of plasma NGF for postoperative joint stiffness. The Spearman test was used to analyze the relationship between plasma NGF and joint motion, VAS score, and joint function scores (UCLA score and Constant score). The relationship between plasma NGF and postoperative ROM and risk of joint stiffness was evaluated by restricted cubic spline (RCS) analysis of independent variables.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In the preoperative and postoperative comparison, the two groups improved in joint flexion, VAS pain score, and joint function, except that the external rotation of the Stiff group did not change before and after surgery. After surgery, the ROM of the Stiff group was still significantly limited, and the ROM and joint function scores were lower than those of the Non-Stiff group (<i>p</i> &lt; 0.01).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study suggests that reduced plasma NGF in patients with degenerative RCT may be associated with early shoulder stiffness, showing a negative non-linear dose–response relationship. On a clinical basis, plasma NGF is beneficial to quantify the risk of early shoulder stiffness after RCT.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 13","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70043","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Age Estimation From Blood Test Results Using a Random Forest Model 使用随机森林模型从血液测试结果估计年龄。
IF 2.6 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2025-06-12 DOI: 10.1002/jcla.70064
Satomi Kodera, Osamu Yokoi, Masaki Kaneko, Yuka Sato, Susumu Ito, Katsuhiko Hata
{"title":"Age Estimation From Blood Test Results Using a Random Forest Model","authors":"Satomi Kodera,&nbsp;Osamu Yokoi,&nbsp;Masaki Kaneko,&nbsp;Yuka Sato,&nbsp;Susumu Ito,&nbsp;Katsuhiko Hata","doi":"10.1002/jcla.70064","DOIUrl":"10.1002/jcla.70064","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Objectives</h3>\u0000 \u0000 <p>From a preventive medicine perspective, this study aims to clarify the role of screening data in aging and health problems by estimating age from screening data and verifying the number of data items required in widely used screening tests.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>A random forest model was applied to 11554 men and women (3043 and 8511, respectively) aged 0–95 years who underwent screening tests (60 blood tests, 8 urine tests and 2 saliva tests) between February 2020 and August 2023. All analyses were conducted in Python 3.10.12.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Using all 71 items including gender, a high accuracy of <i>R</i>\u0000 <sup>2</sup> = 0.7010 was achieved with 9243 training datasets (80% of total). <i>R</i>\u0000 <sup>2</sup> decreased slightly to 0.6937 when data items were reduced to 15 by removing less important variables. When datasets numbered fewer than 800 or data items fewer than 7, <i>R</i>\u0000 <sup>2</sup> fell below 0.6. Notably, postmenopausal women tended to have higher estimated ages compared to premenopausal women.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Age estimation from blood data using the random forest model (blood age) is sufficiently precise for assessing physical aging state. Blood age, as well as other biological ages estimated from various omics estimators, was shown to be a very promising method for exploring the problems of aging such as metabolic syndrome and frail syndrome.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 14","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70064","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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