Practical Laboratory Medicine最新文献

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Differences in serum and plasma levels of microRNAs and their time-course changes after blood collection 采血后血清和血浆中 microRNA 水平的差异及其时程变化
IF 1.9
Practical Laboratory Medicine Pub Date : 2024-03-01 DOI: 10.1016/j.plabm.2024.e00376
Ichiro Wakabayashi , Mikio Marumo , Kazumi Ekawa , Takashi Daimon
{"title":"Differences in serum and plasma levels of microRNAs and their time-course changes after blood collection","authors":"Ichiro Wakabayashi ,&nbsp;Mikio Marumo ,&nbsp;Kazumi Ekawa ,&nbsp;Takashi Daimon","doi":"10.1016/j.plabm.2024.e00376","DOIUrl":"10.1016/j.plabm.2024.e00376","url":null,"abstract":"<div><h3>Background</h3><p>Serum and plasma are used for measurements of microRNAs (miRNAs) as biomarkers of various diseases. However, no consistent findings have been obtained regarding differences in serum and plasma levels of miRNAs. The purpose of this study was to clarify differences in serum and plasma levels of total miRNAs and their time-course changes after blood collection.</p></div><div><h3>Methods</h3><p>Venous blood was collected from healthy men, and samples were prepared at the time points of 0, 15, 30, 60 and 180 min after blood collection for plasma and after clot formation for serum. Levels of total miRNAs were analyzed by the hybridization method using the 3D-Gene miRNA Oligo chip.</p></div><div><h3>Results</h3><p>About one third of 2632 miRNAs tested showed levels high enough for comparison of serum and plasma levels and for investigation of their time-course changes. Levels of 299 miRNAs at time 0 were significantly different in serum and plasma. Levels of representative platelet-derived miRNAs including miR-185-5p, -22-3p and -320b were significantly higher in plasma than in serum, while levels of representative erythrocyte-derived miRNAs including miR-451a, -486-5p and -92a-3p were not significantly different in serum and plasma. Plasma levels of 173 miRNAs and 6 miRNAs showed significant decreasing and increasing tendencies, respectively, while there were no miRNAs in serum that showed significant time-course changes.</p></div><div><h3>Conclusion</h3><p>The results suggest that careful attention should be paid when comparing serum and plasma levels of miRNAs and that plasma samples should be prepared early after blood collection.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00376"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000222/pdfft?md5=146a328bc3e969bfc01944d8a2c71253&pid=1-s2.0-S2352551724000222-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139966171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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 reference intervals of micronutrients, vitamins, and interleukins among healthy adults in South-Western Nigeria 尼日利亚西南部健康成年人血清中微量营养素、维生素和白细胞介素的参考区间
IF 1.9
Practical Laboratory Medicine Pub Date : 2024-03-01 DOI: 10.1016/j.plabm.2024.e00363
Tewogbade Adeoye Adedeji , Nife Olamide Adedeji , Olusola Akanni Jeje , Abiodun Kofoworola Ajeigbe , Olufemi Samuel Smith , Temilola O. Owojuyigbe , Michael Bimbo Fawale , Olabamiji Abiodun Ajose , Simeon Adelani Adebisi , Adeyinka Abdulrasak Akande , Bashiru Adekunle Okesina
{"title":"Serum reference intervals of micronutrients, vitamins, and interleukins among healthy adults in South-Western Nigeria","authors":"Tewogbade Adeoye Adedeji ,&nbsp;Nife Olamide Adedeji ,&nbsp;Olusola Akanni Jeje ,&nbsp;Abiodun Kofoworola Ajeigbe ,&nbsp;Olufemi Samuel Smith ,&nbsp;Temilola O. Owojuyigbe ,&nbsp;Michael Bimbo Fawale ,&nbsp;Olabamiji Abiodun Ajose ,&nbsp;Simeon Adelani Adebisi ,&nbsp;Adeyinka Abdulrasak Akande ,&nbsp;Bashiru Adekunle Okesina","doi":"10.1016/j.plabm.2024.e00363","DOIUrl":"10.1016/j.plabm.2024.e00363","url":null,"abstract":"<div><h3>Objectives</h3><p>Clinical decision making depends mostly on appropriate application of numerical pathology reports from laboratory results, interpreted by comparison with reference intervals. We determined serum reference intervals of micronutrients, vitamins, and detectable interleukins among healthy adults in South-Western Nigeria.</p></div><div><h3>Design and methods</h3><p>This prospective study used a priori selection approach in blood-donors. They were screened for conditions that could elicit cytokine production.</p><p>Serum micronutrients were assayed using Atomic Absorption Spectrophotometry; interleukins and vitamins by high Performance Liquid Chromatography. The reference intervals (RIs) were estimated at 2.5th percentile and 97.5th percentile.</p></div><div><h3>Results</h3><p>One hundred and eighteen (118) apparently healthy subjects, aged 18–56 years; 113 (95.8%) being 18–44years, and 5 (4.2%): 45–56 years; mostly males, 13 (11.02%) females, all Africans of Yoruba ethnicity.</p><p>Estimated reference limits were: Zinc: 9.49–20.54 μmol/L, Selenium: 0.50–1.11 μmol/L, Copper: 13.86–27.97 μmol/L, Iron: 14.19–32.07 μmol/L, Manganese: 6.24–16.37 nmol/L; Magnesium: 0.78–1.62 mmol/L.</p><p>Vitamins: A-1.08–2.39 μmol/L; D: 59.89–164.42 μmol/L; E: 7.13–19.45 μmol/L; K: 0.16–0.42 nmol/L; B1: 74.09–201.56 nmol/L; B6: 0.12–0.29 nmol/L; B12: 155.55–407.96 pmol/L; C: 47.74–112.99 μmol/L.</p><p>Detected interleukins (IL-1 to IL-18): IL-1: 0.58–1.24 ng/L, IL-2: 0.09–0.18 ng/L, IL-3: 0.39–0.89 ng/L, IL-4: 0.27–0.58 ng/L, ….to IL-18: 0.74–1.56 ng/L.</p></div><div><h3>Conclusions</h3><p>The RI derived from this study for serum micronutrient, vitamin and interleukin concentrations are the first published for our population. They are in general agreement with those published from other geographical climes but there are differences at the lower and upper limits of the RI. The study reinforces the importance of deriving RI for the population that a clinical laboratory will serve.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00363"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S235255172400009X/pdfft?md5=a8282da3efb4b7eed07aa21db50ae45e&pid=1-s2.0-S235255172400009X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139966901","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Optimizing d-mannose and glyceraldehyde concentrations as glucose preservatives without clinically affecting biochemical test results 优化作为葡萄糖防腐剂的 d-甘露糖和甘油醛浓度,同时不影响临床生化测试结果
IF 1.9
Practical Laboratory Medicine Pub Date : 2024-03-01 DOI: 10.1016/j.plabm.2024.e00388
Renu Wiriyaprasit , Khundaw Moonla , Napaporn Apiratmateekul , Anchalee Chittamma , Gerald J. Kost , Wanvisa Treebuphachatsakul
{"title":"Optimizing d-mannose and glyceraldehyde concentrations as glucose preservatives without clinically affecting biochemical test results","authors":"Renu Wiriyaprasit ,&nbsp;Khundaw Moonla ,&nbsp;Napaporn Apiratmateekul ,&nbsp;Anchalee Chittamma ,&nbsp;Gerald J. Kost ,&nbsp;Wanvisa Treebuphachatsakul","doi":"10.1016/j.plabm.2024.e00388","DOIUrl":"10.1016/j.plabm.2024.e00388","url":null,"abstract":"<div><p>Objectives: The objectives were to evaluate blood additives that combined lithium heparin (LH)-salt with glyceraldehyde (GLY) or <span>d</span>-mannose (MAN) for preserving glucose levels in plasma samples and to simultaneously determine the compatibility of these additives with 14 other biochemical tests.</p></div><div><h3>Methods</h3><p>Blood samples from 40 subjects, equally divided into healthy and diabetic groups, were collected using five different additives. The three most effective additives, LH/GLY, LH/MAN, and LH/GLY/MAN, were selected for ensuring the best preservation of glucose levels and compatibility with 14 biochemical tests. One-way analysis of variance was used to analyze the mean paired differences of glucose level and biochemical tests. Simultaneously, the clinical criteria from Johns Hopkins Hospital were used to guide the interpretation and set acceptable thresholds for measurements that exceeded the standards.</p></div><div><h3>Results</h3><p>The combination of 160 mmol/L GLY, 8.4 mmol/L MAN, and LH, maintained glucose levels at approximately 93.4–93.7 % for healthy subjects and 91.3–92.8% for subjects with diabetes mellitus over 8 h. The mean paired differences of glucose levels in preservation were statistically insignificant. The biases in 14 biochemical tests for LH/GLY/MAN and LH/MAN remained within the acceptable clinical criteria during the 8 h.</p></div><div><h3>Conclusions</h3><p>Combining 160 mmol/L GLY, 8.4 mmol/L MAN, and LH, proved more effective in maintaining glucose levels than individual additives or the conventional sodium fluoride preservative. It did not yield clinical discrepancies in the 14 biochemical tests during 8 h at room temperature.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00388"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000349/pdfft?md5=745963d173c5bd0c7fffbabb8a1c4f14&pid=1-s2.0-S2352551724000349-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140270567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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 the Access HBsAg and Access HBsAg confirmatory assays on the DxI 9000 Access Immunoassay Analyzer DxI 9000 Access 免疫测定分析仪上的 Access HBsAg 和 Access HBsAg 确证测定的性能评估
IF 1.9
Practical Laboratory Medicine Pub Date : 2024-03-01 DOI: 10.1016/j.plabm.2024.e00390
Benoit Visseaux , Jérémie Gautier , Françoise Le Boulaire , Catherine Coignard , Claire Vincent , Sandrine Gréaume , Isabelle Voisin , Veronique Lemée , Jean-Christophe Plantier , Yves-Edouard Herpe , Etienne Brochot , Stephanie Bord , Marc Turini , Vanessa Roulet , Juliane Hey
{"title":"Performance evaluation of the Access HBsAg and Access HBsAg confirmatory assays on the DxI 9000 Access Immunoassay Analyzer","authors":"Benoit Visseaux ,&nbsp;Jérémie Gautier ,&nbsp;Françoise Le Boulaire ,&nbsp;Catherine Coignard ,&nbsp;Claire Vincent ,&nbsp;Sandrine Gréaume ,&nbsp;Isabelle Voisin ,&nbsp;Veronique Lemée ,&nbsp;Jean-Christophe Plantier ,&nbsp;Yves-Edouard Herpe ,&nbsp;Etienne Brochot ,&nbsp;Stephanie Bord ,&nbsp;Marc Turini ,&nbsp;Vanessa Roulet ,&nbsp;Juliane Hey","doi":"10.1016/j.plabm.2024.e00390","DOIUrl":"10.1016/j.plabm.2024.e00390","url":null,"abstract":"<div><h3>Introduction</h3><p>This study evaluated the clinical and analytical performances of the Access HBsAg and the Access HBsAg Confirmatory assays on the DxI 9000 Access Immunoassay Analyzer (Beckman Coulter, Inc.).</p></div><div><h3>Materials and methods</h3><p>Diagnostic specificity and sensitivity of the Access HBsAg and Access HBsAg Confirmatory assays were evaluated by comparing the Access assays to the final HBsAg sample status determined using the Architect, PRISM, or Elecsys HBsAg assays, along with Architect or PRISM HBsAg Confirmatory assays. Imprecision, sensitivity on seroconversion panels, analytical sensitivity on WHO, and recognition of HBV variants were also evaluated.</p></div><div><h3>Results</h3><p>A total of 7534 samples were included in the analysis (6047 blood donors, 1032 hospitalized patients, 455 positive patients’ samples). Access HBsAg assay sensitivity and specificity were at 100.00% (99.19–100.0) and 99.92% (99.82–99.97), respectively. Sensitivity of Access HBsAg Confirmatory assay was 100.00% (99.21–100.0) on the 464 HBsAg positive samples. The use of a high positive algorithm for the Access HBsAg assay, wherein samples with S/CO ≥ 100.00 were considered positive without requiring repeat or confirmatory testing, was successfully evaluated with all 450 specimens with S/CO greater than 100.00 (sensitivity 100.00%; 99.19–100.0). Access HBsAg assay demonstrated good analytical performance, equivalent recognition of seroconversion panels compared to Architect assay, and an analytical sensitivity between 0.022 and 0.025 IU/mL. All HBV genotypes, subtypes and mutants were well detected without analytical sensitivity loss.</p></div><div><h3>Conclusion</h3><p>Access HBsAg and Access HBsAg Confirmatory assays demonstrated robust performances. They provide low samples volume requirements and a simplified process, no systematic retesting for high positive samples.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00390"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000362/pdfft?md5=a16962dc823d09995cdfabbe93ad05f6&pid=1-s2.0-S2352551724000362-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140279881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Biological variation of PIVKA-II in blood serum of healthy subjects measured by automated electrochemiluminescent assay 通过自动电化学发光法测定健康受试者血清中 PIVKA-II 的生物变化
IF 1.9
Practical Laboratory Medicine Pub Date : 2024-03-01 DOI: 10.1016/j.plabm.2024.e00389
Antonín Jabor , Zdenek Kubíček , Jitka Čásenská , Tereza Vacková , Vanda Filová , Janka Franeková
{"title":"Biological variation of PIVKA-II in blood serum of healthy subjects measured by automated electrochemiluminescent assay","authors":"Antonín Jabor ,&nbsp;Zdenek Kubíček ,&nbsp;Jitka Čásenská ,&nbsp;Tereza Vacková ,&nbsp;Vanda Filová ,&nbsp;Janka Franeková","doi":"10.1016/j.plabm.2024.e00389","DOIUrl":"10.1016/j.plabm.2024.e00389","url":null,"abstract":"<div><h3>Background</h3><p>Prothrombin/Protein Induced by Vitamin K Absence-II (PIVKA-II) is a candidate biomarker of hepatocellular cancer, recommended both for diagnostics and monitoring. The aim was to evaluate biological variation (BV) of serum PIVKA-II.</p></div><div><h3>Methods</h3><p>Within-subject (CV<sub>I</sub>) and between-subject (CV<sub>G</sub>) BV estimates were assessed in 14 healthy volunteers in a 6-week protocol. Serum concentrations of PIVKA-II were measured by a Roche Elecsys PIVKA-II diagnostic kit (cobas e8000). Precision (CV<sub>A</sub>) was assessed from duplicate measurements of all volunteers' samples. Two methods were used for the estimation of CV<sub>I</sub>: SD-ANOVA and CV-ANOVA method. We calculated the index of individuality (II) and reference change value. The experiment was fully compliant with EFLM database checklist.</p></div><div><h3>Results</h3><p>The CV<sub>I</sub> of PIVKA-II in healthy persons, as calculated by two statistical methods, were 8.2% (SD-ANOVA with CV<sub>A</sub> of 3.2%) and 9.4% (CV-ANOVA) with CV<sub>A</sub> of 2.7%). The CV<sub>G</sub> was 19.5% (SD-ANOVA), and respective II and RCV were 0.42 and 24.4%.</p></div><div><h3>Conclusions</h3><p>CV<sub>I</sub> and CV<sub>G</sub> of PIVKA-II were 8.2% and 19.5%, respectively, with CV<sub>A</sub> below 4%. The low II and RCV below 25% enable the use of this biomarker both for diagnostics and monitoring. More data are needed before the introduction of PIVKA-II into clinical practice.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00389"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000350/pdfft?md5=844de81587423e7d4dbacb9cd70469dd&pid=1-s2.0-S2352551724000350-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140280317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparison of ELISA with automated ECLIA for IL-6 determination in COVID-19 patients: An Italian real-life experience 比较 ELISA 和自动 ECLIA 对 COVID-19 患者 IL-6 的测定:意大利的实际经验
IF 1.9
Practical Laboratory Medicine Pub Date : 2024-03-01 DOI: 10.1016/j.plabm.2024.e00392
Francesca Romano , Luisa Lanzilao , Edda Russo , Maria Infantino , Francesca Nencini , Giovanni Cappelli , Stefano Dugheri , Mariangela Manfredi , Alessandra Fanelli , Amedeo Amedei , Nicola Mucci
{"title":"Comparison of ELISA with automated ECLIA for IL-6 determination in COVID-19 patients: An Italian real-life experience","authors":"Francesca Romano ,&nbsp;Luisa Lanzilao ,&nbsp;Edda Russo ,&nbsp;Maria Infantino ,&nbsp;Francesca Nencini ,&nbsp;Giovanni Cappelli ,&nbsp;Stefano Dugheri ,&nbsp;Mariangela Manfredi ,&nbsp;Alessandra Fanelli ,&nbsp;Amedeo Amedei ,&nbsp;Nicola Mucci","doi":"10.1016/j.plabm.2024.e00392","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00392","url":null,"abstract":"<div><h3>Objectives</h3><p>Coronavirus disease 2019 (COVID-19) has a wide spectrum of clinical severity. A cytokine storm is associated with COVID-19 severity. Of these, IL-6 is significantly associated with higher mortality and is also a marker for predicting disease prognosis. IL-6 may act as a target for therapeutics and, a blockade of IL-6 function by Tocilizumab has been described as a treatment of the inflammatory process COVID-19-related. This study aims to describe our experience comparing two different methods, in detail Human IL-6 Instant ELISA and the Elecsys IL-6 based on ECLIA, for the IL-6 assessment.</p></div><div><h3>Design and methods</h3><p>IL-6 levels from serum samples of 104 COVID-19 patients, admitted to the AOU Careggi (Hospital in Florence -Italy), were assessed by using the two above-mentioned methods, and the results were analysed through Passing-Bablok regression fit and Bland-Altman plot.</p></div><div><h3>Results</h3><p>The regression exhibited a linear relation between the methods with a regression equation (y = - 0.13 + 0.63 x; 95 % C.I. intercept = − 0.13 to 4.55; 95 % C.I. slope = 1.03 to 1.26 with R<sup>2</sup> = 0.89, p &gt; 0.05), showing a positive slope. The agreement of the two methods reported a bias of −25.0 pg/mL. Thus, the two methods correlate but do not agree in terms of numeric results.</p></div><div><h3>Conclusions</h3><p>The two assays showed good comparability. However, because of the extremely wide linear range of the ECLIA, its throughput and its capacity for immune profiling, it represents an interesting emerging technology in the immunology field.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00392"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000386/pdfft?md5=64418fd3a8a63ef0df4c826f7a545a12&pid=1-s2.0-S2352551724000386-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140539747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel XNA-based Luminex assay to detect UBA1 somatic mutations associated with VEXAS syndrome 基于 XNA 的新型 Luminex 检测法可检测与 VEXAS 综合征相关的 UBA1 体细胞突变
IF 1.9
Practical Laboratory Medicine Pub Date : 2024-03-01 DOI: 10.1016/j.plabm.2024.e00380
Yunqing Ma , ShianPin Hu , Rui Ni , Wei Liu , Andrew Fu , Michael Sha , Aiguo Zhang , Chuanyi M. Lu
{"title":"A novel XNA-based Luminex assay to detect UBA1 somatic mutations associated with VEXAS syndrome","authors":"Yunqing Ma ,&nbsp;ShianPin Hu ,&nbsp;Rui Ni ,&nbsp;Wei Liu ,&nbsp;Andrew Fu ,&nbsp;Michael Sha ,&nbsp;Aiguo Zhang ,&nbsp;Chuanyi M. Lu","doi":"10.1016/j.plabm.2024.e00380","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00380","url":null,"abstract":"<div><h3>Objectives</h3><p>Patients with VEXAS syndrome carry mutations of UBA1 gene coding for the E1 enzyme. The three most frequent mutations are p.M41T(122T &gt; C), p.M41V (c.121A &gt; G), and p.M41L (c.121A &gt; C) in codon 41 of exon 3. Currently, sanger sequencing was mainly used to detect these mutations, which has low sensitivity and low throughput. There is a need of high sensitivity, simple and high throughput method to characterize patients with VEXAS syndrome.</p></div><div><h3>Methods</h3><p>Based on our proprietary XNA technology, we have developed a QClamp® Plex platform to detect eight mutations in a single reaction using the Luminex xMap technology. The assay sensitivity, specificity and precision were subsequently evaluated. Furthermore, the reference interval and clinical sensitivity/specificity were estimated using clinical healthy/positive DNA samples and the sanger sequencing method was used for comparison.</p></div><div><h3>Results</h3><p>With spiking synthetic mutant DNA in wildtype GM24385 cell line DNA, this assay can detect <em>UBA1</em> mutations with a detection limit of variant allele frequency (VAF) at 0.1–5%. Our assay shows 100% concordance with Sanger sequencing results when used for analyzing 15 positive and 19 negative clinical samples.</p></div><div><h3>Conclusions</h3><p>The QClamps® Plex <em>UBA1</em> Mutation Detection Assay is a quicker, simpler, and more sensitive assay that can accurately detect the <em>UBA1</em> mutations even at early stages with low mutation frequency.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00380"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S235255172400026X/pdfft?md5=18a5232c2069b2784ffcf90581aad19d&pid=1-s2.0-S235255172400026X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140000361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Compound heterozygous with Hb G-Taipei and Hb Lepore-Boston-Washington: An unexpected finding triggered by HbA1c measurement Hb G-台北和 Hb Lepore-波士顿-华盛顿的复合杂合子:HbA1c 测量引发的意外发现
IF 1.9
Practical Laboratory Medicine Pub Date : 2024-03-01 DOI: 10.1016/j.plabm.2024.e00379
Yu Li , Anping Xu , Juan He , Limin Huang , Li Lin , Jie Li , Yong Xia , Ling Ji
{"title":"Compound heterozygous with Hb G-Taipei and Hb Lepore-Boston-Washington: An unexpected finding triggered by HbA1c measurement","authors":"Yu Li ,&nbsp;Anping Xu ,&nbsp;Juan He ,&nbsp;Limin Huang ,&nbsp;Li Lin ,&nbsp;Jie Li ,&nbsp;Yong Xia ,&nbsp;Ling Ji","doi":"10.1016/j.plabm.2024.e00379","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00379","url":null,"abstract":"<div><h3>Background</h3><p>Hemoglobin A1c has been widely used to diagnose and monitor diabetes. However, the accuracy of HbA<sub>1c</sub> analysis can be significantly affected by hemoglobin variants, leading to falsely low or elevated levels and misdiagnosis or inappropriate diabetes management.</p></div><div><h3>Case report</h3><p>In this study, we present the case of a 23-year-old man with undetectable HbA<sub>1c</sub> levels during his annual checkup by high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). To investigate the reason for HbA<sub>1c</sub> absence, Sanger sequencing, multiplex ligation-dependent probe amplification assay (MLPA), long-read single molecule real-time sequencing (SMRT) and MALDI-TOF mass spectrometry (MS) were performed, and the proband was identified as compound heterozygous of β-thalassemia with Hb G-Taipei (HBB:c.68A &gt; G) and Hb Lepore-Boston-Washington (NG_000007.3:g.63632_71046del).</p></div><div><h3>Conclusion</h3><p>The combination of these molecular technologies including MLPA, long-read SMRT sequencing and MALDI-TOF MS is beneficial for identifying rare hemoglobin variants. This case also provides essential evidence for uncovering the effect of compound heterozygosity for Hb Lepore-Boston-Washington and Hb G-Taipei on hematological phenotypes and HbA<sub>1c</sub> analysis.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00379"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000258/pdfft?md5=971f18030faece1fb725e8b59655a834&pid=1-s2.0-S2352551724000258-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139993618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
New procalcitonin point-of-care test meets analytical performances to stratification of infectious syndrome 新型丙种球蛋白床旁检验符合传染病综合征分层的分析要求
IF 1.9
Practical Laboratory Medicine Pub Date : 2024-02-23 DOI: 10.1016/j.plabm.2024.e00372
Anne Marie Dupuy, Ahmed Yahyaoui, Anne Sophie Bargnoux, Caroline Coulon, Stéphanie Badiou, Jean Paul Cristol
{"title":"New procalcitonin point-of-care test meets analytical performances to stratification of infectious syndrome","authors":"Anne Marie Dupuy,&nbsp;Ahmed Yahyaoui,&nbsp;Anne Sophie Bargnoux,&nbsp;Caroline Coulon,&nbsp;Stéphanie Badiou,&nbsp;Jean Paul Cristol","doi":"10.1016/j.plabm.2024.e00372","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00372","url":null,"abstract":"","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00372"},"PeriodicalIF":1.9,"publicationDate":"2024-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000180/pdfft?md5=18362bf9457f2db6f3ef296a28d9404b&pid=1-s2.0-S2352551724000180-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139985449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Low specificity of Aspergillus spp. ELITe MGB assay, and potential risks in management of invasive aspergillosis 侵袭性曲霉菌病 ELITe MGB 检测的低特异性和潜在风险
IF 1.9
Practical Laboratory Medicine Pub Date : 2024-02-21 DOI: 10.1016/j.plabm.2024.e00378
Violaine Bothy , Maria A. Argudín , Nathalie Olive , Cindy Barbée , Benoît Kabamba-Mukadi , Hector Rodriguez-Villalobos
{"title":"Low specificity of Aspergillus spp. ELITe MGB assay, and potential risks in management of invasive aspergillosis","authors":"Violaine Bothy ,&nbsp;Maria A. Argudín ,&nbsp;Nathalie Olive ,&nbsp;Cindy Barbée ,&nbsp;Benoît Kabamba-Mukadi ,&nbsp;Hector Rodriguez-Villalobos","doi":"10.1016/j.plabm.2024.e00378","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00378","url":null,"abstract":"<div><h3>Objectives</h3><p>In recent years, commercial molecular tools for diagnosis of invasive aspergillosis have emerged, requiring evaluation to ensure quality. Here we assessed the specificity of <em>Aspergillus</em> spp.-ELITe MGB Assay a commercial assay tergeting 18S gene of <em>Aspergillus</em> spp.</p></div><div><h3>Design and methods</h3><p>As part of a method validation, we evaluate the specificity of the <em>Aspergillus</em> spp.-ELITe MGB Assay by testing fourteen culture based samples of sequenced non-Aspergillus fungal species. The benefits of a pre-lysis treatment was evaluated in parallel on serial dilutions of an <em>Aspergillus fumigatus</em> strain.</p></div><div><h3>Results</h3><p>Our findings revealed cross-reactivity in five strains using the 50 copies/mL cut-off recommended by the manufacturer, suggesting potential diagnostic errors and inappropriate management of patients. Pre-lysis treatment does not affect the limit of detection at serial dilution.</p></div><div><h3>Conclusions</h3><p>In conclusion, the <em>Aspergillus</em> spp. ELITe MGB Assay exhibits limited specificity in culture-based samples, underscoring the importance of careful utilization in laboratories. Further studies are warranted to better comprehend of the impact of this cross-reactivity on clinical samples.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"39 ","pages":"Article e00378"},"PeriodicalIF":1.9,"publicationDate":"2024-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000246/pdfft?md5=9dafc65c4696e5413903162494a44dcb&pid=1-s2.0-S2352551724000246-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139985605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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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