Practical Laboratory Medicine最新文献

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Exploring free pregnancy associated plasma protein a (fPAPP-A) as a biomarker in early pregnancy 将游离妊娠相关血浆蛋白 a(fPAPP-A)作为孕早期生物标志物的探索
IF 1.7
Practical Laboratory Medicine Pub Date : 2024-09-16 DOI: 10.1016/j.plabm.2024.e00428
Jesper Friis Petersen , Vilma Tiittanen , Saara Wittfooth , Ellen Løkkegaard , Lennart Jan Friis-Hansen
{"title":"Exploring free pregnancy associated plasma protein a (fPAPP-A) as a biomarker in early pregnancy","authors":"Jesper Friis Petersen ,&nbsp;Vilma Tiittanen ,&nbsp;Saara Wittfooth ,&nbsp;Ellen Løkkegaard ,&nbsp;Lennart Jan Friis-Hansen","doi":"10.1016/j.plabm.2024.e00428","DOIUrl":"10.1016/j.plabm.2024.e00428","url":null,"abstract":"<div><h3>Objectives</h3><div>In combined first trimester screening for Down syndrome, Pregnancy-Associated Plasma Protein A (PAPP-A) is pivotal. PAPP-A tests evaluate total PAPP-A, consisting of the biologically active free PAPP-A (fPAPP-A) and PAPP-A complexed with eosinophil major basic protein's proform (proMBP). While PAPP-A is well-researched, limited understanding persists regarding fPAPP-A's first trimester concentrations and diagnostic utility.</div></div><div><h3>Design</h3><div>and methods: PAPP-A and fPAPP-A levels were gauged in 602 serum samples at 2-week intervals (gestational weeks 4–14) from 159 women with delivery of a healthy neonate and 80 samples from 37 miscarriages. The final sample at the time of diagnosis from women who miscarried was included in analyses.</div></div><div><h3>Results</h3><div>During the first trimester, PAPP-A and fPAPP-A levels displayed significant and strong correlation (r = 0.94), with median values doubling weekly. Free PAPP-A constituted only 3.0 % of PAPP-A over gestational weeks. Low fPAPP-A linked to miscarriage (p &lt; 0.001), maternal weight (p &lt; 0.001), and smoking (p = 0.02). For miscarriage prediction fPAPP-A was equal to PAPP-A (area under the receiver operating characteristics curve 0.79 vs. 0.81, p = 0.44).</div></div><div><h3>Conclusions</h3><div>Investigating fPAPP-A presence and concentration directly in first trimester serum has not been done previously. This study report lower fPAPP-A values than anticipated from prior enzymatic studies of fPAPP-A. fPAPP-A was not superior to PAPP-A as a first trimester biomarker in this dataset.</div></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142424976","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
Evaluation of the EUROIMMUN automated chemiluminescence immunoassays for measurement of four core biomarkers for Alzheimer’s disease in cerebrospinal fluid 评估 EUROIMMUN 自动化学发光免疫测定法,用于测量脑脊液中阿尔茨海默病的四种核心生物标记物
IF 1.7
Practical Laboratory Medicine Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00425
Katharina Römpler , Philipp Arendt , Britta Brix , Viola Borchardt-Lohölter , Anette Schulz , Mandy Busse , Stefan Busse
{"title":"Evaluation of the EUROIMMUN automated chemiluminescence immunoassays for measurement of four core biomarkers for Alzheimer’s disease in cerebrospinal fluid","authors":"Katharina Römpler ,&nbsp;Philipp Arendt ,&nbsp;Britta Brix ,&nbsp;Viola Borchardt-Lohölter ,&nbsp;Anette Schulz ,&nbsp;Mandy Busse ,&nbsp;Stefan Busse","doi":"10.1016/j.plabm.2024.e00425","DOIUrl":"10.1016/j.plabm.2024.e00425","url":null,"abstract":"<div><h3>Introduction</h3><p>Robust immunoassays for quantification of Alzheimer's disease (AD)-specific biomarkers are required for routine diagnostics. We report analytical performance characteristics of four new chemiluminescence immunoassays (ChLIA, EUROIMMUN) running on closed, fully automated random-access instruments for quantification of Aβ<sub>1-40</sub>, Aβ<sub>1-42</sub>, tTau, and pTau(181) in human cerebrospinal fluid (CSF).</p></div><div><h3>Methods</h3><p>ChLIAs were validated according to the guidelines of the Clinical and Laboratory Standards Institute (CLSI). Optimal cut-offs for biomarkers and biomarker ratios were determined using samples from 219 AD patients and 220 patients with AD-related symptoms. For performance comparison, biomarker concentrations were measured in 110 diagnostic leftover samples using the ChLIAs and established Lumipulse G assays (Fujirebio).</p></div><div><h3>Results</h3><p>All ChLIAs met CLSI criteria. Overall agreement between assays was 89.0%–97.3 % with highly correlating results (Pearson's correlation coefficients: 0.82–0.99). Passing-Bablok regression analysis revealed systematic differences.</p></div><div><h3>Discussion</h3><p>EUROIMMUN ChLIAs showed good analytical performances and represent new valuable tools for diagnostics of AD.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000714/pdfft?md5=97eaafe39fae3e30f93e744afd267114&pid=1-s2.0-S2352551724000714-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142230684","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
Analytical performance evaluation of a new integrated clinical chemistry and immunoassay analyzer 新型集成临床化学和免疫测定分析仪的分析性能评估
IF 1.7
Practical Laboratory Medicine Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00427
Ulla Ruffing, Sabrina Mickeler, Michaela Kraft, Peter Findeisen
{"title":"Analytical performance evaluation of a new integrated clinical chemistry and immunoassay analyzer","authors":"Ulla Ruffing,&nbsp;Sabrina Mickeler,&nbsp;Michaela Kraft,&nbsp;Peter Findeisen","doi":"10.1016/j.plabm.2024.e00427","DOIUrl":"10.1016/j.plabm.2024.e00427","url":null,"abstract":"<div><h3>Background</h3><p>Clinical laboratories perform a wide range of tests that are used by healthcare professionals to guide medical decision making. Use of automated analyzers in the clinical laboratory can improve patient care by not only reducing the turn-around-time (TAT) of results but also improving accuracy of the reported results by reducing human error. The aim of this study was to evaluate the performance characteristics of a new automated laboratory instrument, the Atellica® CI Analyzer, Model 1900, over a 3-month period in a European laboratory setting.</p></div><div><h3>Methods</h3><p>Analytical performance of 17 analytes (13 chemistry and four immunochemistry) was assessed by evaluating repeatability and within-laboratory precision using anonymized remnant serum samples. Method comparison studies were performed on the Atellica CI Analyzer and the Roche cobas® 6000.</p></div><div><h3>Results</h3><p>Excellent precision was observed with coefficients of variation (CVs) less than 2 % for repeatability and less than 3 % within-laboratory imprecision for most analytes. Comparison of select assays with the cobas 6000 system resulted in correlation coefficients ranging from 0.980 to 1.000.</p></div><div><h3>Conclusion</h3><p>This is the first reported evaluation of the Atellica CI Analyzer in a clinical laboratory setting. The strong analytical performance of the Atellica CI Analyzer demonstrates that this instrument is suitable for routine clinical use.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000738/pdfft?md5=7ddf564e23e32bba0c10890fee87712a&pid=1-s2.0-S2352551724000738-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163636","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
An assessment of analytical performance using the six sigma scale in second-trimester maternal prenatal screening practices in China 使用六西格玛量表评估中国孕产妇第二胎产前筛查实践中的分析绩效
IF 1.7
Practical Laboratory Medicine Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00422
Jinming Zhang , Xingtong Chen , Jiaming Wu , Penghui Feng , Wei Wang , Kun Zhong , Shuai Yuan , Yuxuan Du , Chuanbao Zhang , Falin He
{"title":"An assessment of analytical performance using the six sigma scale in second-trimester maternal prenatal screening practices in China","authors":"Jinming Zhang ,&nbsp;Xingtong Chen ,&nbsp;Jiaming Wu ,&nbsp;Penghui Feng ,&nbsp;Wei Wang ,&nbsp;Kun Zhong ,&nbsp;Shuai Yuan ,&nbsp;Yuxuan Du ,&nbsp;Chuanbao Zhang ,&nbsp;Falin He","doi":"10.1016/j.plabm.2024.e00422","DOIUrl":"10.1016/j.plabm.2024.e00422","url":null,"abstract":"<div><h3>Objectives</h3><p>We aimed to evaluate the analytical performance of second-trimester maternal serum screening in China, and to compare if there are differences in sigma levels across different methods and months.</p></div><div><h3>Methods</h3><p>A retrospective study was conducted to assess the analytical quality levels of laboratories by calculating the Sigma metrics with prenatal screening biomarkers: AFP, Total β-hCG, free β-hCG, uE3. Data from 591 laboratories were selected. Sigma metrics were computed using the formula: Sigma metrics(σ) = (%TEa - |%Bias|)/%CV. The Friedman test and Mann-Whitney test were used to compare differences across various methods and different months. The Hodges–Lehmann was used for determining 95 % confidence intervals of pseudo-medians.</p></div><div><h3>Results</h3><p>Only uE3 showed significant monthly variations in sigma calculations. However, around 8 % of laboratories across all four analytes demonstrated sigma levels both above 6 and below 3 in different months. Laboratories utilizing time-resolved fluorescence methods significantly outperformed those using chemiluminescence in sigma level. For AFP, the pseudo-median difference between these methods lies within a 95 % confidence interval of (−3.22, −1.93), while for uE3, it is at (−2.30, −1.40). Notably, the median sigma levels for all analytes reached the 4-sigma threshold, with free β-hCG even attaining the 6-sigma level.</p></div><div><h3>Conclusion</h3><p>With current standards, China's second-trimester maternal serum screening is of relatively high analytical quality, and variations in sigma levels exist across different months and methods.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000684/pdfft?md5=94fce0bc72c07b868b95e4af86aeb411&pid=1-s2.0-S2352551724000684-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141960300","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
Analytical performance of publicly dispensed glucometers in primary health care in a southern Brazilian city 巴西南部城市初级卫生保健中公共配发血糖仪的分析性能
IF 1.7
Practical Laboratory Medicine Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00421
Isabelle L. Silva, Flávia Martinello
{"title":"Analytical performance of publicly dispensed glucometers in primary health care in a southern Brazilian city","authors":"Isabelle L. Silva,&nbsp;Flávia Martinello","doi":"10.1016/j.plabm.2024.e00421","DOIUrl":"10.1016/j.plabm.2024.e00421","url":null,"abstract":"<div><h3>Aims</h3><p>This study aimed to assess the use of glucometers by patients and the analytical performance of glucometers provided by the primary care services.</p></div><div><h3>Methods</h3><p>The analytical performance of 48 glucometers Accu-Chek® Active, was assessed through quintuplicate analyses of one Roche and one PNCQ (National Quality Control Program) control sample at different concentrations; 31 were also evaluated by a single proficiency testing sample. The evaluation metrics included imprecision, bias, and total error and were measured according to quality specifications based on biological variation (QSBV). Glucometer users answered a questionnaire regarding their experience.</p></div><div><h3>Results</h3><p>Among the 48 glucometers evaluated with internal control samples, 17 met precision criteria at both control levels according to QSBV, while 24 met the criteria at only one control level. Of the 31 glucometers further evaluated through proficiency test, 11 met accuracy criteria according to QSBV, and only one device showed an unacceptable result. Out of these 31, only 15 demonstrated a total error within the acceptable maximum limits based on QSBV.</p></div><div><h3>Conclusions</h3><p>Overall, our findings showed that patients had a good understanding of glucometer usage and suggested that some glucometers should be replaced, as they sometimes failed to meet even the manufacturer’s acceptable variation limits, and/or did not meet QSBV.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000672/pdfft?md5=4da41e980a7e2125105f74c43088cc49&pid=1-s2.0-S2352551724000672-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141846706","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
Analytical performances of a novel fluorescent immunoassay of anti-Müllerian hormone and establishment of the reference intervals in Chinese children 抗缪勒氏管激素新型荧光免疫测定在中国儿童中的分析性能及参考区间的确定
IF 1.7
Practical Laboratory Medicine Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00419
Li Li , Mingyi Li , Wenqian Zhu, Lisong Shen, Limin Jiang
{"title":"Analytical performances of a novel fluorescent immunoassay of anti-Müllerian hormone and establishment of the reference intervals in Chinese children","authors":"Li Li ,&nbsp;Mingyi Li ,&nbsp;Wenqian Zhu,&nbsp;Lisong Shen,&nbsp;Limin Jiang","doi":"10.1016/j.plabm.2024.e00419","DOIUrl":"10.1016/j.plabm.2024.e00419","url":null,"abstract":"<div><h3>Background</h3><p>AMH is important in child growth and the concentrations change with age and gender. This study aimed to evaluate the performance of the Pylon AMH assays and establish pediatric reference intervals.</p></div><div><h3>Methods</h3><p>The experiments on imprecision, sensitivity, linearity, reportable range, interference and comparison were carried out to evaluate the analytical performance. The AMH reference ranges were calculated in 238 females and 346 males aged 0–18 years using robust methods.</p></div><div><h3>Results</h3><p>The repeatability and the within-laboratory imprecision CVs of the assay were 3.7 % and 6.4 % at 2.25 ng/mL, and 4.6 % and 6.4 % at 15.49 ng/mL, respectively. The sensitivity (LoB = 0.05 ng/mL, LoD = 0.1 ng/mL and LoQ = 0.3 ng/mL) was verified. The linearity was 0.1–19.55 ng/mL and report up to 391 ng/mL with 20x pre-dilution. There was no significant interference from hemoglobin (500 mg/dL), triglyceride (500 mg/dL), bilirubin (10 mg/dL), cholesterol (800 mg/dL) and biotin (3000 ng/mL). The AMH measured by the Pylon assays correlated to those measured by the Elecsys assays. In males, the AMH levels were high at birth (0 d-1 m: median 95.10 ng/mL) and increased to a peak (7 m-1y: median 158.80 ng/mL) before they decreased with age (15–18 y: median 6.31 ng/mL). In females, the AMH concentrations were low at birth (0 d-1 m: median 0.20 ng/mL) and increased with age (15–18 y: median 3.03 ng/mL).</p></div><div><h3>Conclusion</h3><p>The Pylon AMH assays showed good analytical performance and the AMH reference intervals in chinese children determined may provide a basis in clinical diagnosis and treatment of related diseases.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000659/pdfft?md5=42c6a900de6eb50328f578096f7c7513&pid=1-s2.0-S2352551724000659-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141715239","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
Accidental bufotoxin intoxication: Arenobufagin identification by liquid chromatography coupled to mass spectrometry 意外布福毒素中毒:液相色谱-质谱法鉴定阿伦布法金
IF 1.7
Practical Laboratory Medicine Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00424
Alessandro Bonari , Mauro Leucio Mattei , Giovanni Cappelli , Francesca Romano , Nicoletta Cini , Francesca Luceri , Donato Squillaci , Stefano Dugheri , Alessandra Fanelli , Nicola Mucci
{"title":"Accidental bufotoxin intoxication: Arenobufagin identification by liquid chromatography coupled to mass spectrometry","authors":"Alessandro Bonari ,&nbsp;Mauro Leucio Mattei ,&nbsp;Giovanni Cappelli ,&nbsp;Francesca Romano ,&nbsp;Nicoletta Cini ,&nbsp;Francesca Luceri ,&nbsp;Donato Squillaci ,&nbsp;Stefano Dugheri ,&nbsp;Alessandra Fanelli ,&nbsp;Nicola Mucci","doi":"10.1016/j.plabm.2024.e00424","DOIUrl":"10.1016/j.plabm.2024.e00424","url":null,"abstract":"<div><p>Background: Since ancient times, poisoning, even serious poisoning, has been known to occur during nature walks. Intentional or unintentional ingestion of toxins of animal origin is one of the possible causes of poisoning. Bufadienolide poisoning is a critical case. This is because of its high potency and its ability to cross the blood-brain barrier. Due to the rarity of these poisonings in humans in Central Europe, their identification is often difficult. The following is a case report of a poisoning by toad eggs in an Italina child, that presented vertigo, fussiness and sleepiness. A method of toxin identification using the prince of pharmacotoxicology, liquid chromatography (LC) coupled with tandem mass spectrometry (MS/MS), and an innovative reasoning were used. This method can be applied to other poisoning cases.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000702/pdfft?md5=e5a24c523b354e3bf3163d696432eabb&pid=1-s2.0-S2352551724000702-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141997278","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 comparison of anti-cyclic citrullinated peptides (CCP3 and CCP3.1) autoantibody tests in rheumatoid arthritis 类风湿性关节炎患者的抗环瓜氨酸肽(CCP3 和 CCP3.1)自身抗体检测比较
IF 1.7
Practical Laboratory Medicine Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00420
Heather A. Nelson , Dipanwita Banerjee , Camille L. Novis , Kevin D. Deane , Marie L. Feser , Vijayalakshmi Nandakumar
{"title":"A comparison of anti-cyclic citrullinated peptides (CCP3 and CCP3.1) autoantibody tests in rheumatoid arthritis","authors":"Heather A. Nelson ,&nbsp;Dipanwita Banerjee ,&nbsp;Camille L. Novis ,&nbsp;Kevin D. Deane ,&nbsp;Marie L. Feser ,&nbsp;Vijayalakshmi Nandakumar","doi":"10.1016/j.plabm.2024.e00420","DOIUrl":"10.1016/j.plabm.2024.e00420","url":null,"abstract":"<div><h3>Background</h3><p>Anti-citrullinated protein antibodies (ACPA) are a specific serological biomarker used in the diagnosis of rheumatoid arthritis (RA). In clinical practice ACPA can be identified using immunoassays targeting synthetic cyclic citrullinated peptides (CCP). The 3rd generation anti-CCP IgG antibody (CCP3) offers improved sensitivity compared to the earlier versions. Recently, CCP3.1, capable of detecting both IgG and IgA antibodies, was introduced to enhance sensitivity, especially in patients with early RA.</p></div><div><h3>Methods</h3><p>We assessed serum CCP3.1 against CCP3 in 331 subjects undergoing RA panel serology, comprising 136 patients with RA and 195 patients without RA. Sera were tested for anti-CCP IgG (CCP3) and anti-CCP IgG/IgA (CCP3.1) antibodies. Clinical performance of these tests was compared at manufacturer-suggested cutoffs. A separate set of 81 patients with a diagnosis of RA by 2010 criteria and whose samples were obtained from within 1-year of RA diagnosis was similarly assessed to evaluate assay performance in an independent clinical RA cohort.</p></div><div><h3>Results</h3><p>Overall diagnostic accuracy was similar; CCP3 had an area under the curve (AUC) of 0.88, CCP3.1 had an AUC of 0.89. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for CCP3 were 79 %, 91 %, 86 %, and 86 %, respectively. For CCP3.1, sensitivity was 78 %, specificity 93 %, PPV 89 %, NPV 86 %. Both assays demonstrated excellent agreement; positive percent agreement of 94 % and negative percent agreement of 99 %.</p></div><div><h3>Conclusion</h3><p>Our findings indicate comparable diagnostic accuracy between CCP3 and CCP3.1 assays in these clinical cohorts.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000660/pdfft?md5=583223d3ab9f7125ac49d9b57141b8d5&pid=1-s2.0-S2352551724000660-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141844296","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
Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever 将长线程测序用于家族性地中海热的常规分子诊断
IF 1.7
Practical Laboratory Medicine Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00423
X. Vanhoye, P. Mouty, S. Mouty, N. Bargues, N. Couprie, E. Fayolle, V. Géromel, M. Taoudi, L. Raymond, J.-F. Taly
{"title":"Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever","authors":"X. Vanhoye,&nbsp;P. Mouty,&nbsp;S. Mouty,&nbsp;N. Bargues,&nbsp;N. Couprie,&nbsp;E. Fayolle,&nbsp;V. Géromel,&nbsp;M. Taoudi,&nbsp;L. Raymond,&nbsp;J.-F. Taly","doi":"10.1016/j.plabm.2024.e00423","DOIUrl":"10.1016/j.plabm.2024.e00423","url":null,"abstract":"<div><h3>Background</h3><p>Long-read sequencing technology, widely used in research, is proving useful in clinical diagnosis, especially for infectious diseases. Despite recent advances, it hasn't been routinely applied to constitutional human diseases. Long-read sequencing detects intronic variants and phases variants, crucial for identifying recessive diseases.</p></div><div><h3>Methods</h3><p>We integrated long-read sequencing into the clinical diagnostic workflow for the MEFV gene, responsible for familial Mediterranean fever (FMF), using a Nanopore-based workflow. This involved long-range PCR amplification, native barcoding kit library preparation, GridION sequencing, and in-house bioinformatics. We compared this new workflow against our validated method using 39 patient samples and 3 samples from an external quality assessment scheme to ensure compliance with ISO15189 standards.</p></div><div><h3>Results</h3><p>Our evaluation demonstrated excellent performance, meeting ISO15189 requirements for reproducibility, repeatability, sensitivity, and specificity. Since October 2022, 150 patient samples were successfully analyzed with no failures. Among these samples, we identified 13 heterozygous carriers of likely pathogenic (LP) or pathogenic (P) variants, 1 patient with a homozygous LP/P variant in MEFV, and 4 patients with compound heterozygous variants.</p></div><div><h3>Conclusion</h3><p>This study represents the first integration of long-read sequencing for FMF clinical diagnosis, achieving 100 % sensitivity and specificity. Our findings highlight its potential to identify pathogenic variants without parental segregation analysis, offering faster, cost-effective, and accurate clinical diagnosis. This successful implementation lays the groundwork for future applications in other constitutional human diseases, advancing precision medicine.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000696/pdfft?md5=ef62fb79c08b487cc52051c4961e4d33&pid=1-s2.0-S2352551724000696-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141964663","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
Longevity of Schistosoma mansoni circulating cathodic antigens in filter paper dried urine spots 滤纸干燥尿点中曼氏血吸虫循环阴性抗原的寿命
IF 1.7
Practical Laboratory Medicine Pub Date : 2024-08-01 DOI: 10.1016/j.plabm.2024.e00426
Abdallah Zacharia , Clemence Kinabo , Twilumba Makene , Huda Omary , George Ogweno , Faraja Lyamuya , Billy Ngasala
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