Pub Date : 2025-09-01Epub Date: 2025-08-11DOI: 10.1016/j.plabm.2025.e00497
Ali Akbar Samadani , Sogand Vahidi , Kosar Babaei , Seyedeh Elham Norollahi , Kourosh Delpasand , Elaheh Asghari Gharakhyli
The biggest health issue in the world right now is the COVID-19 pandemic. This outbreak has caused a lot more people to be hospitalized for pneumonia and serious health problems, leading to many deaths. This report talks about many studies that showed the causes and how common COVID-19 is, as well as how to diagnose it in clinics and labs, and how to prevent and control it. These studies are very important and directly related to COVID-19 to help manage the current public emergency. Many parts of this dangerous disease, like how it spreads, how to diagnose it, how it infects people, and how to treat it, are still not well understood. It's important that to prevent, diagnose, and treat COVID-19 well, we need research at the molecular and clinical levels, along with public health measures and medical treatments. Clearly, new treatments like mesenchymal stem cell therapy have shown great promise in this area. Here, we will talk about and show the advanced lab methods used to understand how COVID-19 spreads, how it is diagnosed, and how it can be treated.
{"title":"Comprehensive and translational pathobiology of COVID-19 based on cellular and molecular techniques","authors":"Ali Akbar Samadani , Sogand Vahidi , Kosar Babaei , Seyedeh Elham Norollahi , Kourosh Delpasand , Elaheh Asghari Gharakhyli","doi":"10.1016/j.plabm.2025.e00497","DOIUrl":"10.1016/j.plabm.2025.e00497","url":null,"abstract":"<div><div>The biggest health issue in the world right now is the COVID-19 pandemic. This outbreak has caused a lot more people to be hospitalized for pneumonia and serious health problems, leading to many deaths. This report talks about many studies that showed the causes and how common COVID-19 is, as well as how to diagnose it in clinics and labs, and how to prevent and control it. These studies are very important and directly related to COVID-19 to help manage the current public emergency. Many parts of this dangerous disease, like how it spreads, how to diagnose it, how it infects people, and how to treat it, are still not well understood. It's important that to prevent, diagnose, and treat COVID-19 well, we need research at the molecular and clinical levels, along with public health measures and medical treatments. Clearly, new treatments like mesenchymal stem cell therapy have shown great promise in this area. Here, we will talk about and show the advanced lab methods used to understand how COVID-19 spreads, how it is diagnosed, and how it can be treated.</div></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"46 ","pages":"Article e00497"},"PeriodicalIF":1.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144842607","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}
Pub Date : 2025-09-01Epub Date: 2025-06-18DOI: 10.1016/j.plabm.2025.e00485
Yuanyuan Guo , Kun Wang , Liying Wang, Shuang Liu, Zhijie Li, Tian Li, Changchun Niu
Background
To achieve the goal of eliminating viral hepatitis as a public health threat by 2030, accurate detection of HBV-DNA and HCV-RNA is crucial. This study presents the implementation of HBV-DNA and HCV-RNA External Quality Assessment (EQA) programs conducted in Chongqing, China, from 2009 to 2024, highlighting the significant contributions made by clinical laboratories.
Methods
Over a span of 16 years, a total of 160 samples were distributed in the HBV-DNA EQA program, while the HCV-RNA EQA program disseminated 105 samples encompassing diverse concentration levels. Factors such as the number of participating laboratories, employed detection methodologies, utilized reagents, and test outcomes were evaluated to assess the HBV-DNA and HCV-RNA detection capabilities of clinical laboratories over the past decade.
Results
By 2024, the number of laboratories participating in HBV-DNA EQA activities had increased from 45 in 2009 to 110 in 2024, representing a 144.44 % increase. Similarly, the number of laboratories participating in HCV-RNA EQA activities had risen from 7 in 2014 to 30 in 2024, marking a 328.57 % increase. The accuracy rate for HBV-DNA EQA activity results improved from 85.37 % in 2009 to 98.18 % in 2024, while the accuracy rate for HCV-RNA EQA activity results rose from 66.67 % in 2014 to 96.67 % in 2024. Satisfactory reproducibility was observed in parallel samples. However, certain laboratories exhibited significant bias in low- and high-concentration samples.
Conclusion
The performance of laboratories in Chongqing, China, for HBV-DNA and HCV-RNA testing has consistently improved through their participation in EQA programs. In the future, sample distribution should include more challenging ones, particularly low- or high-concentration samples. Emphasis should also be placed on standardized operation and performance validation of the assay system.
{"title":"External quality assessment for nucleic acid quantitative testing of human hepatitis B and hepatitis C virus in Chongqing, China: 2009–2024","authors":"Yuanyuan Guo , Kun Wang , Liying Wang, Shuang Liu, Zhijie Li, Tian Li, Changchun Niu","doi":"10.1016/j.plabm.2025.e00485","DOIUrl":"10.1016/j.plabm.2025.e00485","url":null,"abstract":"<div><h3>Background</h3><div>To achieve the goal of eliminating viral hepatitis as a public health threat by 2030, accurate detection of HBV-DNA and HCV-RNA is crucial. This study presents the implementation of HBV-DNA and HCV-RNA External Quality Assessment (EQA) programs conducted in Chongqing, China, from 2009 to 2024, highlighting the significant contributions made by clinical laboratories.</div></div><div><h3>Methods</h3><div>Over a span of 16 years, a total of 160 samples were distributed in the HBV-DNA EQA program, while the HCV-RNA EQA program disseminated 105 samples encompassing diverse concentration levels. Factors such as the number of participating laboratories, employed detection methodologies, utilized reagents, and test outcomes were evaluated to assess the HBV-DNA and HCV-RNA detection capabilities of clinical laboratories over the past decade.</div></div><div><h3>Results</h3><div>By 2024, the number of laboratories participating in HBV-DNA EQA activities had increased from 45 in 2009 to 110 in 2024, representing a 144.44 % increase. Similarly, the number of laboratories participating in HCV-RNA EQA activities had risen from 7 in 2014 to 30 in 2024, marking a 328.57 % increase. The accuracy rate for HBV-DNA EQA activity results improved from 85.37 % in 2009 to 98.18 % in 2024, while the accuracy rate for HCV-RNA EQA activity results rose from 66.67 % in 2014 to 96.67 % in 2024. Satisfactory reproducibility was observed in parallel samples. However, certain laboratories exhibited significant bias in low- and high-concentration samples.</div></div><div><h3>Conclusion</h3><div>The performance of laboratories in Chongqing, China, for HBV-DNA and HCV-RNA testing has consistently improved through their participation in EQA programs. In the future, sample distribution should include more challenging ones, particularly low- or high-concentration samples. Emphasis should also be placed on standardized operation and performance validation of the assay system.</div></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"46 ","pages":"Article e00485"},"PeriodicalIF":1.7,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144514013","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}
Pub Date : 2025-09-01Epub Date: 2025-07-05DOI: 10.1016/j.plabm.2025.e00489
Nazmin Bithi, Ridwan B. Ibrahim, Estella Tam, Radwa Almamoun, Annett C. Frenk Oquendo, Ayse Akcan-Arikan, Sridevi Devaraj
{"title":"Corrigendum to “Validation of an assay for NGAL in a Pediatric Population” [Practical Laboratory Medicine, PLABM 486, e00486]","authors":"Nazmin Bithi, Ridwan B. Ibrahim, Estella Tam, Radwa Almamoun, Annett C. Frenk Oquendo, Ayse Akcan-Arikan, Sridevi Devaraj","doi":"10.1016/j.plabm.2025.e00489","DOIUrl":"10.1016/j.plabm.2025.e00489","url":null,"abstract":"","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"46 ","pages":"Article e00489"},"PeriodicalIF":1.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144988318","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}
Pub Date : 2025-09-01Epub Date: 2025-06-24DOI: 10.1016/j.plabm.2025.e00486
Nazmin Bithi , Ridwan B. Ibrahim , Estella L. Tam , Radwa Almamoun , Annette C. Frenk Oquendo , Ayse Akcan-Arikan , Sridevi Devaraj
Background and objectives
Acute kidney injury (AKI) poses a serious clinical challenge, particularly in high-risk environments, due to its association with increased morbidity and mortality. Traditional diagnostic markers, such as serum creatinine, often detect AKI only after significant kidney damage has occurred, limiting opportunities for early intervention. Neutrophil gelatinase-associated lipocalin (NGAL) has emerged as a promising early biomarker due to its rapid upregulation following kidney ischemia. NGAL supports renal recovery by reducing toxicity and promoting tubular regeneration via heme oxygenase-1 activity. This study aimed to validate the BioPorto ProNephro AKI™ turbidimetric immunoassay for urinary NGAL on the Ortho Vitros XT7600 analyzer and evaluate its clinical utility in detecting early-stage AKI.
Design and methods
Assay performance was evaluated in accordance with CLSI guidelines, assessing precision, linearity, method agreement, specificity, and reference range. Method comparison involved 20 urine samples, while reference range verification used 57 pediatric samples. A clinical validation study included 21 pediatric CRRT patient samples to assess real-world diagnostic performance.
Results
The assay demonstrated strong precision (intra-assay CV: 1.3–1.8 %; inter-assay CV: 1.8–2.7 %) and excellent linearity (18–1140 ng/mL; extended to 15,000 ng/mL with dilution). High correlation (r = 0.9836) was observed in method comparison. Specificity tests showed minimal interference. Clinical validation yielded 76.19 % sensitivity and 100 % specificity for AKI detection.
Conclusions
The BioPorto ProNephro AKI™ assay on the Ortho Vitros XT7600 shows high sensitivity and specificity for urinary NGAL detection in pediatric patients, enabling early AKI identification, timely intervention, and potentially improved clinical outcomes through enhanced diagnostic performance.
{"title":"Validation of an assay for NGAL in a pediatric population","authors":"Nazmin Bithi , Ridwan B. Ibrahim , Estella L. Tam , Radwa Almamoun , Annette C. Frenk Oquendo , Ayse Akcan-Arikan , Sridevi Devaraj","doi":"10.1016/j.plabm.2025.e00486","DOIUrl":"10.1016/j.plabm.2025.e00486","url":null,"abstract":"<div><h3>Background and objectives</h3><div>Acute kidney injury (AKI) poses a serious clinical challenge, particularly in high-risk environments, due to its association with increased morbidity and mortality. Traditional diagnostic markers, such as serum creatinine, often detect AKI only after significant kidney damage has occurred, limiting opportunities for early intervention. Neutrophil gelatinase-associated lipocalin (NGAL) has emerged as a promising early biomarker due to its rapid upregulation following kidney ischemia. NGAL supports renal recovery by reducing toxicity and promoting tubular regeneration via heme oxygenase-1 activity. This study aimed to validate the BioPorto ProNephro AKI™ turbidimetric immunoassay for urinary NGAL on the Ortho Vitros XT7600 analyzer and evaluate its clinical utility in detecting early-stage AKI.</div></div><div><h3>Design and methods</h3><div>Assay performance was evaluated in accordance with CLSI guidelines, assessing precision, linearity, method agreement, specificity, and reference range. Method comparison involved 20 urine samples, while reference range verification used 57 pediatric samples. A clinical validation study included 21 pediatric CRRT patient samples to assess real-world diagnostic performance.</div></div><div><h3>Results</h3><div>The assay demonstrated strong precision (intra-assay CV: 1.3–1.8 %; inter-assay CV: 1.8–2.7 %) and excellent linearity (18–1140 ng/mL; extended to 15,000 ng/mL with dilution). High correlation (r = 0.9836) was observed in method comparison. Specificity tests showed minimal interference. Clinical validation yielded 76.19 % sensitivity and 100 % specificity for AKI detection.</div></div><div><h3>Conclusions</h3><div>The BioPorto ProNephro AKI™ assay on the Ortho Vitros XT7600 shows high sensitivity and specificity for urinary NGAL detection in pediatric patients, enabling early AKI identification, timely intervention, and potentially improved clinical outcomes through enhanced diagnostic performance.</div></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"46 ","pages":"Article e00486"},"PeriodicalIF":1.7,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144491144","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}
The UF-1500 is the new fully automated urine particle analyser by Sysmex specifically tailored for small and medium laboratories. This study aim to validate its analytical and diagnostic performance.
Methods
754 first morning mid-stream urines were analysed on UF-1500; 550 samples were used for the UF-5000 comparison and 204 were used for the correlation with manual count on Fuchs-Rosenthal chamber. Carry-over, linearity and imprecision of the UF-1500 were also assessed.
Results
Correlation with the UF-5000 was excellent, with r coefficient range between 0.88 and 1.00. Correlation with Fuchs-Rosenthal chamber was very good for all the parameters; r coefficient ranged between 0.67 and 0.94. Linearity regression coefficient of determination (R2) was excellent for almost all the parameters. No carry-over was observed. The within-run imprecision range between 2.93 % for RBC and 35.63 % for WBC. The between-run imprecision ranged between 2.1 % for RBC and 23.9 % for CAST, using low and high positive quality controls, respectively.
Conclusion
The analytical and diagnostic performance is satisfactory for almost all the parameters, when compared with the UF-5000; the correlation with the reference method is equally good.
{"title":"Performance verification of the new UF-1500 urine particle analyser: a new opportunity for small and medium laboratories","authors":"Giulia Previtali, Michela Seghezzi, Roberto Marozzi, Monica Fortino, Gianluca Agnolet, Mauro Barretta, Claudia Bizzoni, Valeria Bolla, Greta Bolzoni, Alessia Cesani, Matteo Diambrini, Sara Apassiti Esposito, Giorgia Giuliani, Alina Picciau, Maria Grazia Alessio","doi":"10.1016/j.plabm.2025.e00481","DOIUrl":"10.1016/j.plabm.2025.e00481","url":null,"abstract":"<div><h3>Background</h3><div>The UF-1500 is the new fully automated urine particle analyser by Sysmex specifically tailored for small and medium laboratories. This study aim to validate its analytical and diagnostic performance.</div></div><div><h3>Methods</h3><div>754 first morning mid-stream urines were analysed on UF-1500; 550 samples were used for the UF-5000 comparison and 204 were used for the correlation with manual count on Fuchs-Rosenthal chamber. Carry-over, linearity and imprecision of the UF-1500 were also assessed.</div></div><div><h3>Results</h3><div>Correlation with the UF-5000 was excellent, with <em>r</em> coefficient range between 0.88 and 1.00. Correlation with Fuchs-Rosenthal chamber was very good for all the parameters; <em>r coefficient</em> ranged between 0.67 and 0.94. Linearity regression coefficient of determination (R<sup>2</sup>) was excellent for almost all the parameters. No carry-over was observed. The within-run imprecision range between 2.93 % for RBC and 35.63 % for WBC. The between-run imprecision ranged between 2.1 % for RBC and 23.9 % for CAST, using low and high positive quality controls, respectively.</div></div><div><h3>Conclusion</h3><div>The analytical and diagnostic performance is satisfactory for almost all the parameters, when compared with the UF-5000; the correlation with the reference method is equally good.</div></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"46 ","pages":"Article e00481"},"PeriodicalIF":1.7,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144212482","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}
Pub Date : 2025-09-01Epub Date: 2025-06-25DOI: 10.1016/j.plabm.2025.e00487
Hongyu Zhang , Baixiu Wu , Liuhua Ke , Zheng Peng
Objective
To verify and evaluate the performance of the Abbott Alinity i chemiluminescence analyzer for five thyroid function tests.
Method
Referring to the relevant documents of the Clinical and Laboratory Standards Institute (CLSI) and related literature, the precision, accuracy, linear range, reference interval, and sample carryover effect of Abbott Alinity i immunoassay system for measuring FT3, FT4, T3, T4, and TSH were verified and analyzed.
Results
Precision: Repeatability ranged from 1.23 % to 6.11 %, and intermediate precision ranged from 1.84 % to 7.33 %, both meeting the quality targets (≤6.25 % and ≤8.33 %, respectively). Accuracy: The deviation between the mean value and the target value was less than 12.5 %, indicating good agreement. Linearity: For T3, T4, and TSH, the 95 % confidence intervals of the deviation from linearity (difference between measured and expected value) were entirely within the allowable deviation limits (ADL). For FT3 and FT4, manufacturer guidelines preclude dilution; thus, linearity verification was omitted. Reference interval: All test values of 20 healthy individuals were within the reference intervals provided by the manufacturer. Sample carryover effect: The sample carryover effect ranged from −0.4 % to 0.17 %, which met the requirement of less than 1 %.
Conclusion
The Abbott Alinity i analyzer demonstrated acceptable performance in precision, accuracy, linearity (for T3, T4, and TSH), reference interval, and carry-over effect for the five thyroid function tests, meeting manufacturer specifications.
{"title":"Performance validation of Abbott Alinity i chemiluminescence analyzer for five thyroid function tests","authors":"Hongyu Zhang , Baixiu Wu , Liuhua Ke , Zheng Peng","doi":"10.1016/j.plabm.2025.e00487","DOIUrl":"10.1016/j.plabm.2025.e00487","url":null,"abstract":"<div><h3>Objective</h3><div>To verify and evaluate the performance of the Abbott Alinity i chemiluminescence analyzer for five thyroid function tests.</div></div><div><h3>Method</h3><div>Referring to the relevant documents of the Clinical and Laboratory Standards Institute (CLSI) and related literature, the precision, accuracy, linear range, reference interval, and sample carryover effect of Abbott Alinity i immunoassay system for measuring FT3, FT4, T3, T4, and TSH were verified and analyzed.</div></div><div><h3>Results</h3><div>Precision: Repeatability ranged from 1.23 % to 6.11 %, and intermediate precision ranged from 1.84 % to 7.33 %, both meeting the quality targets (≤6.25 % and ≤8.33 %, respectively). Accuracy: The deviation between the mean value and the target value was less than 12.5 %, indicating good agreement. Linearity: For T3, T4, and TSH, the 95 % confidence intervals of the deviation from linearity (difference between measured and expected value) were entirely within the allowable deviation limits (ADL). For FT3 and FT4, manufacturer guidelines preclude dilution; thus, linearity verification was omitted. Reference interval: All test values of 20 healthy individuals were within the reference intervals provided by the manufacturer. Sample carryover effect: The sample carryover effect ranged from −0.4 % to 0.17 %, which met the requirement of less than 1 %.</div></div><div><h3>Conclusion</h3><div>The Abbott Alinity i analyzer demonstrated acceptable performance in precision, accuracy, linearity (for T3, T4, and TSH), reference interval, and carry-over effect for the five thyroid function tests, meeting manufacturer specifications.</div></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"46 ","pages":"Article e00487"},"PeriodicalIF":1.7,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144517730","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}
Pub Date : 2025-09-01Epub Date: 2025-08-02DOI: 10.1016/j.plabm.2025.e00495
Yun Huang , Fang Li , Xiaofeng Li , He Wang
Background
To genetically analyze a prenatal specimen exhibiting mosaic 20q11.2 microdeletion syndrome with uniparental disomy of chromosome 20 (UPD20). The aim is to summarize the symptoms and prognosis of fetuses with this condition and provide guidance for genetic counseling and prenatal diagnosis in similar cases.
Methods
Chromosomal karyotyping and Chromosomal Microarray Analysis (CMA) were performed on prenatal amniotic fluid specimens and peripheral blood samples from the parents.
Results
The karyotype analysis of the fetal amniotic fluid cells revealed a mosaic pattern of 46,XN,+20[80]/46,XN[20], indicating an 80 % mosaicism ratio. The CMA results showed arr20p13q13.33(61,662–62,913,645)x2-3 mos with an 11 % mosaicism ratio and arr20p12.2q13.2(9,484,368–50,586,616)x2 hmz, inherited from the mother.
Conclusion
Through interdisciplinary team discussion and analysis of a 42-year-old pregnant woman's fetus exhibiting mosaic 20q11.2 microdeletion syndrome with mixed-type maternal UPD20, relevant genetic counseling was provided to the pregnant woman, assisting in informed decision-making. The reporting of this case is significant for summarizing the symptoms and prognosis of fetuses with this condition and guiding prenatal diagnosis and genetic counseling in similar cases.
{"title":"Prenatal diagnosis and genetic counseling of a case with trisomy 20 mosaicism and mixed-type maternal UPD20","authors":"Yun Huang , Fang Li , Xiaofeng Li , He Wang","doi":"10.1016/j.plabm.2025.e00495","DOIUrl":"10.1016/j.plabm.2025.e00495","url":null,"abstract":"<div><h3>Background</h3><div>To genetically analyze a prenatal specimen exhibiting mosaic 20q11.2 microdeletion syndrome with uniparental disomy of chromosome 20 (UPD20). The aim is to summarize the symptoms and prognosis of fetuses with this condition and provide guidance for genetic counseling and prenatal diagnosis in similar cases.</div></div><div><h3>Methods</h3><div>Chromosomal karyotyping and Chromosomal Microarray Analysis (CMA) were performed on prenatal amniotic fluid specimens and peripheral blood samples from the parents.</div></div><div><h3>Results</h3><div>The karyotype analysis of the fetal amniotic fluid cells revealed a mosaic pattern of 46,XN,+20[80]/46,XN[20], indicating an 80 % mosaicism ratio. The CMA results showed arr20p13q13.33(61,662–62,913,645)x2-3 mos with an 11 % mosaicism ratio and arr20p12.2q13.2(9,484,368–50,586,616)x2 hmz, inherited from the mother.</div></div><div><h3>Conclusion</h3><div>Through interdisciplinary team discussion and analysis of a 42-year-old pregnant woman's fetus exhibiting mosaic 20q11.2 microdeletion syndrome with mixed-type maternal UPD20, relevant genetic counseling was provided to the pregnant woman, assisting in informed decision-making. The reporting of this case is significant for summarizing the symptoms and prognosis of fetuses with this condition and guiding prenatal diagnosis and genetic counseling in similar cases.</div></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"46 ","pages":"Article e00495"},"PeriodicalIF":1.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144756843","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}
Pub Date : 2025-09-01Epub Date: 2025-06-11DOI: 10.1016/j.plabm.2025.e00484
Qi Zhang , Danni Mu , Yichen Ma , Yuemeng Li , Yumeng Gao , Yingying Hu , Kui Zhang , Fang Zhao , Ran Gao , Liangyu Xia , Huijuan Zhu , Songlin Yu , Ling Qiu , Xinqi Cheng
Objectives
Twenty-four-hour urinary free cortisol (UFC) measurement is the initial diagnostic test for Cushing's syndrome (CS). We compared UFC determination by four new immunoassays using Autobio A6200, Mindray CL-1200i, Snibe MAGLUMI X8 and Roche 8000 e801 with liquid chromatography-tandem mass spectrometry (LC-MS/MS). Additionally, we evaluated the value of 24-h UFC measured by four direct immunoassays for diagnosing CS.
Methods
Residual 24-hr urine samples of 94 CS and 243 non-CS patients collected from previous cohort were used. A laboratory-developed LC-MS/MS method was used as reference. UFC was measured by immunoassays using Autobio, Mindray, Snibe and Roche platforms. Method was compared using Passing–Bablok regression and Bland–Altman plot analyses. Cut-off values for each assay and corresponding sensitivities and specificities were calculated by ROC analysis.
Results
All four immunoassays showed strong correlations with LC-MS/MS (Spearman coefficient r = 0.950, 0.998, 0.967, and 0.951, respectively). All immunoassays showed proportionally positive bias. The areas under the curve were 0.953 for Autobio, 0.969 for Mindray, 0.963 for Snibe, and 0.958 for Roche. The cut-off values varied from 178.5 to 272.0 nmol/24 h). Assay sensitivity and specificity ranged from 89.66 % to 93.10 % and from 93.33 % to 96.67 %, respectively.
Conclusions
Four newly available direct immunoassays for measuring UFC show good analytical consistency compared to LC-MS/MS. The elimination of organic solvent extraction simplifies workflows while maintaining high diagnostic accuracy. Additionally, they exhibited similarly high diagnostic accuracy for CS identification. Future multi-center studies are needed to validate our findings and establish method-specific UFC cut-off values to enhance clinical utility.
{"title":"Comparative evaluation of four new immunoassays and LC-MS/MS for the measurement of urinary free cortisol in Cushing's syndrome diagnosis","authors":"Qi Zhang , Danni Mu , Yichen Ma , Yuemeng Li , Yumeng Gao , Yingying Hu , Kui Zhang , Fang Zhao , Ran Gao , Liangyu Xia , Huijuan Zhu , Songlin Yu , Ling Qiu , Xinqi Cheng","doi":"10.1016/j.plabm.2025.e00484","DOIUrl":"10.1016/j.plabm.2025.e00484","url":null,"abstract":"<div><h3>Objectives</h3><div>Twenty-four-hour urinary free cortisol (UFC) measurement is the initial diagnostic test for Cushing's syndrome (CS). We compared UFC determination by four new immunoassays using Autobio A6200, Mindray CL-1200i, Snibe MAGLUMI X8 and Roche 8000 e801 with liquid chromatography-tandem mass spectrometry (LC-MS/MS). Additionally, we evaluated the value of 24-h UFC measured by four direct immunoassays for diagnosing CS.</div></div><div><h3>Methods</h3><div>Residual 24-hr urine samples of 94 CS and 243 non-CS patients collected from previous cohort were used. A laboratory-developed LC-MS/MS method was used as reference. UFC was measured by immunoassays using Autobio, Mindray, Snibe and Roche platforms. Method was compared using Passing–Bablok regression and Bland–Altman plot analyses. Cut-off values for each assay and corresponding sensitivities and specificities were calculated by ROC analysis.</div></div><div><h3>Results</h3><div>All four immunoassays showed strong correlations with LC-MS/MS (Spearman coefficient r = 0.950, 0.998, 0.967, and 0.951, respectively). All immunoassays showed proportionally positive bias. The areas under the curve were 0.953 for Autobio, 0.969 for Mindray, 0.963 for Snibe, and 0.958 for Roche. The cut-off values varied from 178.5 to 272.0 nmol/24 h). Assay sensitivity and specificity ranged from 89.66 % to 93.10 % and from 93.33 % to 96.67 %, respectively.</div></div><div><h3>Conclusions</h3><div>Four newly available direct immunoassays for measuring UFC show good analytical consistency compared to LC-MS/MS. The elimination of organic solvent extraction simplifies workflows while maintaining high diagnostic accuracy. Additionally, they exhibited similarly high diagnostic accuracy for CS identification. Future multi-center studies are needed to validate our findings and establish method-specific UFC cut-off values to enhance clinical utility.</div></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"46 ","pages":"Article e00484"},"PeriodicalIF":1.7,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144272332","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}
Pub Date : 2025-09-01Epub Date: 2025-07-15DOI: 10.1016/j.plabm.2025.e00493
Hou-Long Luo , Anping Xu , Ling Ji
Therapeutic monoclonal antibodies (t-mAbs), such as daratumumab (anti-CD38), are increasingly used in plasma cell disorders including systemic AL amyloidosis. However, their exogenous IgG kappa/lambda components can mimic endogenous monoclonal immunoglobulins in serum immunofixation electrophoresis (IFE), leading to diagnostic challenges. We report a 48-year-old male with biopsy-confirmed lambda-restricted renal AL amyloidosis. After transitioning to daratumumab-CyBorD therapy following CyBorD failure, his serum IFE unexpectedly revealed biclonal bands—a cathodal IgG kappa and anodal IgG lambda—suggesting biclonal gammopathy. Suspecting daratumumab interference (an IgG kappa antibody), we employed mass spectrometry (iMS-LC assay) for definitive analysis. Post-treatment serum showed two distinct peaks (endogenous lambda: m/z 22,718; daratumumab kappa: m/z 23,389), while pre-treatment serum contained only the endogenous lambda peak (m/z 22,716). This confirms daratumumab generates a cathodal IgG kappa band mimicking pathological gammopathy. To prevent diagnostic errors in plasma cell disorder monitoring, laboratories should proactively identify t-mAb interference using historical controls and targeted mass spectrometry.
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Pub Date : 2025-09-01Epub Date: 2025-07-17DOI: 10.1016/j.plabm.2025.e00494
Joseph Boachie , Derrick Ahiable , Leticia Awonbiistemi Ajabuin , Richard Amissah , Abigail Asmah-Brown , Safianu Apalebilah , Ama Gyasiwaah Owusu-Poku , Henrietta Eshun , Patrick Adu , Joel Karikari Nyarkoh
Background
Malaria remains a public health issue. Its associated inflammatory responses can easily shift from benefit to detriment, making early detection of malarial inflammation crucial. The full blood count promises to be a less expensive assay serving as a surrogate marker for inflammation. This study, therefore, aimed to determine the diagnostic value of FBC-derived systemic inflammatory biomarkers in malaria infection.
Method
We employ a single point case-control design that included 45 malaria patients and 50 healthy individuals. We collected their anthropometric, sociodemographic, and clinical information. FBC estimation and malaria parasite enumeration were determined for each participant.
Results
Malaria patients had higher values of all the systemic inflammatory biomarkers (monocyte-to-lymphocyte ratio (MLR), neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and aggregate index of systemic inflammation (AISI)) compared with healthy individuals. There was significant moderate correlation between parasite count and NLR, and MLR (ρ = 0.5 and ρ = 0.4) and a weak negative correlation with PLR and AISI (ρ = - 0.2 each). A receiver operator characteristic (ROC) curve analysis showed that NLR (AUC = 0.937) had an excellent diagnostic and predictive value, with sensitivity of 86.7 % and specificity of 92.0 %.
Conclusion
We have shown that the FBC-derived inflammatory biomarker— NLR— increases as parasite count increases. At a level of 2.12 and above, NLR is 86.7 % sensitive and 92.0 % specific in identifying the inflammatory state in malaria patients. Our findings show that the FBC-derived systemic inflammatory biomarkers provide a solution to the need for cost-effective surrogate inflammatory markers, especially in resource-deprived areas.
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