Journal of Applied Laboratory Medicine最新文献_第5页

Using ddPCR to Identify Large Deletions of Complement Factor H-Related Genes in Atypical Hemolytic Uremic Syndrome. 利用ddPCR鉴定非典型溶血性尿毒症综合征补体因子h相关基因的大缺失。

IF 2.3

Journal of Applied Laboratory Medicine Pub Date : 2026-09-03 DOI: 10.1093/jalm/jfag061

Yu-Wei Cheng, Zhen Wang, Zheng Jin Tu, Frank Mularo, Xiangling Wang

{"title":"Using ddPCR to Identify Large Deletions of Complement Factor H-Related Genes in Atypical Hemolytic Uremic Syndrome.","authors":"Yu-Wei Cheng, Zhen Wang, Zheng Jin Tu, Frank Mularo, Xiangling Wang","doi":"10.1093/jalm/jfag061","DOIUrl":"10.1093/jalm/jfag061","url":null,"abstract":"Background: Atypical hemolytic uremic syndrome (aHUS) is a rare, complement-mediated disorder. Disease-associated variants have been found in complement factor H-related genes and complement regulatory genes. Particularly, homozygous deletions of CFHR1, CFHR3, or CFHR4 have been associated with aHUS. Generally, multiplex ligation-dependent probe amplification (MLPA) is used to detect copy number changes in the CFH and CFHR regions. We have developed a cost-effective droplet digital PCR (ddPCR) method for measuring copy number variations (CNVs) in these genes.Methods: A total of 41 DNA samples were analyzed using both ddPCR and MLPA to assess large deletions in the CFHR1, CFHR3, CFHR4 regions. The ddPCR primers were designed to avoid rare single nucleotide polymorphisms to enhance hybridization efficiency and accurate identification of deletions within the CFHR regions. The MLPA probe mix (Probemix P236 CFH Region) targeting CFHR regions was purchased from MRC Holland.Results: Multiple heterozygous deletions were observed in the CFHR1, CFHR3, and CFHR4 genes. Homozygous deletions of CFHR1 and CFHR3 were seen in 2 cases, while 2 other cases showed homozygous CFHR1 and heterozygous CFHR3 deletions. All 41 samples demonstrated 100% concordance in copy number results between ddPCR and MLPA, as well as consistent reproducibility in both inter- and intratechnologist evaluations.Conclusions: Our findings demonstrate that ddPCR is a robust platform to identify large deletions in the CFHR regions. Future studies are needed to evaluate its ability to distinguish full vs partial deletions and to further establish its clinical diagnostic value.","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"1212-1220"},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148007002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical Implications of the Duffy-Null Genotype in Patients on Azathioprine or Methotrexate in the All of Us Cohort. 在All of Us队列中使用硫唑嘌呤或甲氨蝶呤的患者Duffy-Null基因型的临床意义

IF 2.3

Journal of Applied Laboratory Medicine Pub Date : 2026-09-03 DOI: 10.1093/jalm/jfag056

Edgar Asiimwe, Donglei Hu, Jing Cheng, Alan H B Wu, Lawrence H Kushi, Franklin W Huang, Linda Kachuri, Akinyemi Oni-Orisan, Elad Ziv

{"title":"Clinical Implications of the Duffy-Null Genotype in Patients on Azathioprine or Methotrexate in the All of Us Cohort.","authors":"Edgar Asiimwe, Donglei Hu, Jing Cheng, Alan H B Wu, Lawrence H Kushi, Franklin W Huang, Linda Kachuri, Akinyemi Oni-Orisan, Elad Ziv","doi":"10.1093/jalm/jfag056","DOIUrl":"10.1093/jalm/jfag056","url":null,"abstract":"Background: The Duffy null variant (CC genotype) is associated with lower absolute neutrophil count (ANC) and increased risk of early discontinuation or ineligibility for certain treatments. Our primary objective was to evaluate the change in ANC over time among individuals on azathioprine or methotrexate. We also evaluated normality status (i.e., a designation of abnormal vs not) of ANC under genotype-adjusted and unadjusted thresholds.Methods: We used the UK Biobank to calculate genotype-adjusted and unadjusted thresholds. We included participants reporting azathioprine or methotrexate use in All of Us to examine the primary and secondary objectives. The primary outcome was the log-mean difference in ANC between 1 year before and 2 years post medication initiation. The secondary outcome was the odds of normality of ANC under genotype-adjusted vs unadjusted thresholds.Results: We found that in azathioprine users, those with the CC genotype had nonstatistically significant lower ANC (log-mean difference, -0.017; 95% CI, -0.072 to 0.038). For methotrexate, those with the CC genotype had a statistically significant lower ANC (log-mean difference, -0.042; 95% CI, -0.074 to -0.009). Evaluations of unadjusted ANC thresholds in those on azathioprine revealed that CC individuals were more likely to be abnormal (odds ratio [OR], 7.51; 95% CI, 1.64 to 34.43). Findings were similar for methotrexate (OR, 4.35; 95% CI, 1.48 to 12.79). However, under Duffy-adjusted thresholds, there were no significant differences between both genotypes in either treatment group: azathioprine (P = .491) and methotrexate (P = .269).Conclusion: We conclude that Duffy-adjusted ANC reference ranges reduce the proportion of individuals classified as abnormal, with several implications for Duffy-null individuals.","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"1039-1049"},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147989479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Commentary on Isoform-Specific TRIOBP Truncating Variants in Deafness, Autosomal Recessive 28: A Case Study of Postlingual Moderate Sensorineural Hearing Loss. 对常染色体隐性28型耳聋中同种异构体特异性TRIOBP截断变异的评论：语后中度感音神经性听力损失病例研究。

IF 2.3

Journal of Applied Laboratory Medicine Pub Date : 2026-09-03 DOI: 10.1093/jalm/jfag081

Kayra Somay

引用次数: 0

Correction to: Samples for the Determination of Total 25-Hydroxyvitamin D Levels Were Stable at Ambient Temperature. 校正：测定总25-羟基维生素D水平的样品在室温下是稳定的。

IF 2.3

Journal of Applied Laboratory Medicine Pub Date : 2026-09-03 DOI: 10.1093/jalm/jfag086

引用次数: 0

Inconsistency of the FIB-4 Score in Hospitalized Patients. 住院患者FIB-4评分的不一致性

IF 2.3

Journal of Applied Laboratory Medicine Pub Date : 2026-09-03 DOI: 10.1093/jalm/jfag097

Henning Nilius, Petra Strajhar, Fammi Parokkaran, Michael Stickel, Annalisa Berzigotti, Michael Nagler

引用次数: 0

Agreement Statistics for Methods Comparison Based on Total Error Per CLSI EP46 and FDA Assay Criteria Using Web Tool. 基于CLSI EP46和FDA检测标准总误差的方法比较协议统计使用网络工具。

IF 2.3

Journal of Applied Laboratory Medicine Pub Date : 2026-09-03 DOI: 10.1093/jalm/jfag077

Lawrence I Kuei Lin

{"title":"Agreement Statistics for Methods Comparison Based on Total Error Per CLSI EP46 and FDA Assay Criteria Using Web Tool.","authors":"Lawrence I Kuei Lin","doi":"10.1093/jalm/jfag077","DOIUrl":"10.1093/jalm/jfag077","url":null,"abstract":"Background: Per CLSI EP46 (2025), the validation of a test device, when compared to a reference device, should focus on evaluating the total analytical error (TAE) and show that it is within an allowable total error (ATE). Specifically, FDA Assay criteria (2013) suggest that 95% of test device data should be within ATE from those of a reference device. This article presents statistical tools for assessing agreement in method comparisons and assay validations that satisfy the above guidance. Here, we emphasize the concept and provide examples using a web tool.Methods: The validated web tool, free for public use, is available to satisfy the above hard-defined criteria for device acceptance and provides information regarding accuracy and precision. We use test and reference measurements of selected clinical chemistry and hematology analytes as examples. We selected 4 analyte cases to evaluate: precise and accurate, precise and inaccurate, imprecise and accurate, and imprecise and inaccurate.Results: Among the 4 analytes, the precise and accurate case is the only one that passed the FDA Assay criteria. We also present the misleading results indicated by traditional paired t-test and regression analyses, which rejected the case that passed the FDA Assay criteria.Conclusions: The freely accessible and validated web tool successfully identifies analytes that meet the FDA Assay criteria and provides an indication of when an investigation of a potential precision and/or accuracy problem is required.","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"1174-1183"},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148206375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sixth Generation High-Sensitivity Cardiac Troponin T: Will a Better Assay Make a Better Biomarker? 第六代高灵敏度心肌肌钙蛋白T：更好的检测方法会产生更好的生物标志物吗？

IF 2.3

Journal of Applied Laboratory Medicine Pub Date : 2026-09-03 DOI: 10.1093/jalm/jfag085

Amber Pollock, Alexander J F Thurston, Andrew R Chapman, Nicholas L Mills

引用次数: 0

Automated Biochemical Analysis of Pericardial Fluid: Validation of the Assays for Lactate Dehydrogenase, Total Protein, Albumin, Amylase, Urea Nitrogen, Cholesterol, Direct and Total Bilirubin, and Lactate on an Automated Chemistry Analyzer. 心包液的自动生化分析：乳酸脱氢酶、总蛋白、白蛋白、淀粉酶、尿素氮、胆固醇、直接和总胆红素和乳酸在自动化学分析仪上测定的验证

IF 2.3

Journal of Applied Laboratory Medicine Pub Date : 2026-09-03 DOI: 10.1093/jalm/jfag065

Shaimaa Maher, Suttida Parnprome, Imir G Metushi, Lu Song

{"title":"Automated Biochemical Analysis of Pericardial Fluid: Validation of the Assays for Lactate Dehydrogenase, Total Protein, Albumin, Amylase, Urea Nitrogen, Cholesterol, Direct and Total Bilirubin, and Lactate on an Automated Chemistry Analyzer.","authors":"Shaimaa Maher, Suttida Parnprome, Imir G Metushi, Lu Song","doi":"10.1093/jalm/jfag065","DOIUrl":"10.1093/jalm/jfag065","url":null,"abstract":"Background: Biochemical analysis of pericardial fluid (PF) can aid in the determination of the etiology of pericardial effusions. We validated 9 assays for albumin, amylase, blood urea nitrogen, cholesterol, direct and total bilirubin, lactate, lactate dehydrogenase, and total protein on the Roche Cobas c702 analyzer for PF.Methods: For each analyte, a recovery study was conducted to assess the effect of matrix; intra- and interassay precisions were determined at 3 levels; linearity was evaluated using 5 concentrations across the analytical measurement range; common interferences of hemoglobin, bilirubin, and triglycerides were investigated; and the stability at 22°C up to 7 days, 2°C to 8°C up to 14 days, and -20°C up to 4 weeks was studied.Results: For all analytes, the recoveries were within 90% to 110%; the coefficient of variation ranged from 0% to 6% for intraassay and 1.1% to 6.9% for interassay precision. All assays exhibited linear response; the slopes ranged from 0.99 to 1.008, and R2 ranged from 0.999 to 1.000. No significant interferences of hemoglobin, bilirubin, or lipids were observed for all analytes except for direct bilirubin, which was negatively affected by hemoglobin and lipids. At -20°C, all analytes were stable for 4 weeks. At 2°C to 8°C, all were stable for 14 days except lactate dehydrogenase (2 days) and direct bilirubin (2 days). At 22°C, all were stable for 7 days except for direct bilirubin (8 hours) and total bilirubin (3 days).Conclusion: No matrix effects were observed with the assays for these 9 analytes in PF on the Cobas c702 analyzer.","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"1122-1136"},"PeriodicalIF":2.3,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148158584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hidden Figures of DNA. 2. Florence Bell. 隐藏的DNA。2. 弗洛伦斯贝尔。

IF 2.3

Journal of Applied Laboratory Medicine Pub Date : 2026-09-03 DOI: 10.1093/jalm/jfag109

Thomas M Annesley

引用次数: 0

Accuracy of T3 Uptake Was Significantly Impacted by Unit Conversion and Reference Interval Change. 单位转换和参考区间变化显著影响T3摄取的准确性。

IF 2.3

Journal of Applied Laboratory Medicine Pub Date : 2026-09-03 DOI: 10.1093/jalm/jfag090

Francis Felix, Nga Yeung Tang

引用次数: 0