Laboratory medicine最新文献

{"title":"Application of capillary electrophoresis-high-resolution mass spectrometry to diagnose 2 rare hemoglobin variants in the San Francisco Bay area.","authors":"Chenyin Lu, Carolyn V Wong, Priscilla S W Yeung, Ruben Y Luo","doi":"10.1093/labmed/lmaf029","DOIUrl":"https://doi.org/10.1093/labmed/lmaf029","url":null,"abstract":"<p><strong>Introduction: </strong>Hemoglobin (Hb) variants are genetic disorders that lead to structural impairment of Hb. Most of these disorders lack clinical symptoms and are typically detected through prenatal, newborn, or routine health screenings. Hemoglobinopathy evaluation typically starts with screening tests performed by electrophoresis or liquid chromatography. In some cases, on top of the conventional test results, racial or geographic information is incorporated to assess high-risk populations for certain mutations, but this addition can also at times be misleading.</p><p><strong>Methods: </strong>This report presents 2 rare cases of Hb variants in the San Francisco Bay area that were diagnosed using the capillary electrophoresis-high-resolution mass spectrometry (CE-HR-MS) method: Hb New York trait in case 1 and Hb Al-Ain Abu Dhabi trait in case 2.</p><p><strong>Results: </strong>Overall, these results demonstrate the utility of CE-HR-MS as an updated approach to definitively diagnose hemoglobin variants.</p><p><strong>Discussion: </strong>CE-HR-MS has the potential to be implemented into clinical practice as an alternative diagnostic method to gene sequencing.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144487592","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}

{"title":"Analytical performance of an assay for ergosterol, a potential biomarker for Naegleria fowleri in cerebrospinal fluid.","authors":"Stephen P Friedrichs, Christopher D Doern, Melissa J Jamerson, William J Korzun","doi":"10.1093/labmed/lmaf030","DOIUrl":"https://doi.org/10.1093/labmed/lmaf030","url":null,"abstract":"<p><strong>Introduction: </strong>Naegleria fowleri is a pathogenic free-living amoeba that causes primary amoebic meningoencephalitis, a rare and difficult-to-diagnose form of meningitis. By testing patient cerebrospinal fluid (CSF) for ergosterol, a membrane component unique to fungi and amoeba, cases of primary amoebic meningoencephalitis may be distinguished from cases of bacterial and viral meningitis.</p><p><strong>Methods: </strong>Pooled CSF was fortified with ergosterol, extracted, filtered, and measured by liquid chromatography-tandem mass spectrometry. Measurement method precision, sensitivity, recovery, and stability were evaluated. In vitro cell cultures of N fowleri and a sample (n = 200) of deidentified residual patient CSF specimens were also tested for ergosterol.</p><p><strong>Results: </strong>Ergosterol remained stable in CSF at 4 °C and -80 °C. The mean variation and total error of the method were 7.4% and 15.8%, respectively. The method limit of quantification (LOQ) was 1.0 ng/mL, which translated to an in vitro LOQ of 2650 cells/mL or higher. A trace of ergosterol, below the LOQ, was detected in a patient specimen positive for cryptococcal meningitis but not in any other CSF specimens.</p><p><strong>Discussion: </strong>Ergosterol can be reliably detected in spiked human CSF samples and in the supernatant of N fowleri CSF cultures at concentrations of 1.0 to 500 ng/mL. The clinical utility of this method, however, requires further exploration.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144487580","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}

{"title":"Evaluating rapid antimicrobial susceptibility testing directly from positive blood cultures for Escherichia coli, Klebsiella pneumoniae, and Pseudomonas aeruginosa in Chinese hospitals.","authors":"Zhu Mei, Xin-Lu Bai, Dong-Mei Huang, Qiao-Lin Zhang, Ling Yan","doi":"10.1093/labmed/lmaf018","DOIUrl":"https://doi.org/10.1093/labmed/lmaf018","url":null,"abstract":"<p><strong>Introduction: </strong>We sought to assess whether rapid antimicrobial susceptibility testing (AST) directly from positive blood culture bottles for Escherichia coli, Klebsiella pneumoniae, and Pseudomonas aeruginosa can be used in Chinese hospitals.</p><p><strong>Methods: </strong>Rapid AST was performed on each positive blood culture bottle. Categorical rapid AST results at 8 to 10 and 16 to 18 hours were compared with those from the VITEK 2 system (bioMérieux). Minimum inhibitory concentrations and zone diameter were interpreted according to Clinical and Laboratory Standards Institute (CLSI) standard M100-S34, published in 2024.</p><p><strong>Results: </strong>At 8 to 10 hours, the overall categorical agreement for E coli, K pneumoniae, and P aeruginosa was 99.1%, 98.4%, and 95.8%, respectively. At 16 to 18 hours, these rates were 97.4%, 98.9%, and 99.1%, respectively. For E coli, the categorical agreement ranged from 97.2% (ceftazidime at 8-10 hours) to 100% (ampicillin and meropenem at 8-10 and 16-18 hours and ciprofloxacin at 16-18 hours). The categorical agreement for K pneumoniae varied from 96.5%with ceftazidime at 8 to 10 hours to 100% with meropenem and ciprofloxacin at 16 to 18 hours. For P aeruginosa, the categorical agreement ranged from 93.7% (meropenem at 8-10 hours) to 100% (ciprofloxacin at 16-18 hours).</p><p><strong>Discussion: </strong>The CLSI rapid AST method is reliable for E coli, K pneumoniae, and P aeruginosa in Chinese hospitals.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144287678","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}

{"title":"Performance metrics for machine learning solutions in laboratory medicine.","authors":"Nicholas C Spies, David P Ng","doi":"10.1093/labmed/lmaf013","DOIUrl":"https://doi.org/10.1093/labmed/lmaf013","url":null,"abstract":"<p><p>Machine learning-based solutions to laboratory medicine problems have become commonplace in literature, but real-world implementations remain rare, in no small part because of the substantial investment required to incorporate such solutions into routine clinical care. A crucial step in advancing a machine learning solution from proof of concept into clinical application is a robust and comprehensive evaluation of its performance. In this review, we discuss the common methods, best practices, and potential pitfalls in evaluating machine learning-based solutions to clinical laboratory problems.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144287680","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}

{"title":"The impact of anti-M antibodies on patient blood typing and transfusion safety: a retrospective study.","authors":"Xusheng Chen, Shilong Zhang, Jingyi Bi, Mengya Wei, Jianjun Han, Peng Li, Yongtao Yang","doi":"10.1093/labmed/lmaf022","DOIUrl":"https://doi.org/10.1093/labmed/lmaf022","url":null,"abstract":"<p><strong>Background: </strong>Anti-M antibodies are a group of frequently detected, naturally occurring antibodies, most of which are immunoglobulin M (IgM) antibodies, inactive at 37 °C, and clinically insignificant in blood transfusion experiments, except for their effect on blood groups. Anti-M antibodies may be clinically significant in some exceptional cases, however, such as cardiac surgery, when the core body temperature drops, resulting in hemolytic transfusion reactions. The present study was conducted to explore the interference caused by the presence of anti-M antibodies on blood group identification, analyze the necessity of detecting such antibodies in advance for transfusion compatibility testing and clinical transfusion, and explore the importance of O-antigen erythrocytes in routine blood typing, especially in screening for IgM-class antibodies.</p><p><strong>Methods: </strong>This study was initiated by collecting blood typing specimens from January 2021 to December 2023 in the Blood Transfusion Department, where the O cell control tubes showed agglutination in the blood group reverse serotyping, which were ultimately determined to be influenced by the anti-M antibodies. This study further analyzed the absorption of plasma using M antigen-positive type O erythrocytes, followed by repeat ABO typing with either the absorbed plasma or standard reverse grouping erythrocytes without M antigen. Our subsequent steps included a cross-matching test with manual tube testing, the Polybrene method, and antiglobulin test, monitoring of the hemoglobin value after transfusion.</p><p><strong>Results: </strong>A total of 11 patients had anti-M antibodies detected in their serum. Among these 11 patients, 9 had blood type discrepancies identified during blood typing, and the other 2 cases were identified as type O. We saw 4 cases of IgM-type antibodies, 1 case of IgG-type antibodies, and 7 cases of IgM-type and IgG-type antibodies. The forward and reverse typing of 9 samples showed consistent results after serum reverse typing was rechecked by O cell absorption. Cross-matching was compatible with blood donors without M antigen, and 7 of these patients were treated with transfusion, all of whom had elevated hemoglobin levels after transfusion, with no adverse transfusion reactions.</p><p><strong>Discussion: </strong>In specimens with irregular anti-M antibodies, serum absorption can be used to eliminate the interference caused by the irregular antibodies and obtain the correct experimental results. Moreover, the addition of type O red blood cells in the experiment can improve the detection rate of partial antibodies. For specific patients, such as individuals undergoing surgery, regardless of whether the antibody reacts at 37 °C, we recommend choosing M antigen-negative donors for blood transfusion to ensure the safety of blood transfusion for patients in clinical settings.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144287681","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}

{"title":"Evaluation of CD73, PD-1, circHIPK3, and circNRIP1 expression in the peripheral blood of patients with colorectal cancer.","authors":"Zahra Shafaghat, Ali Arash Anoushirvani, Mehdi Nikkhah, Fatemeh Rahbari Solute, Mahdi Alem Rajabi, Iraj Alipourfard, Elaheh Safari","doi":"10.1093/labmed/lmaf015","DOIUrl":"https://doi.org/10.1093/labmed/lmaf015","url":null,"abstract":"<p><strong>Introduction: </strong>Colorectal cancer (CRC) is known to have an association with circular RNAs (circRNAs) and immune checkpoint factors. This study sought to examine the expression levels of hsa_circ_0000284 and hsa_circ_0004771 molecules and the programmed cell death 1 protein (PD-1) and ecto-5'-nucleotidase (CD73) immune checkpoints in the peripheral blood of patients with CRC as well as the ratios of circular to linear forms of homeodomain-interacting protein kinase 3 (HIPK3) and nuclear receptor interacting protein 1 (NRIP1).</p><p><strong>Methods: </strong>Real-time polymerase chain reaction (PCR) and flow cytometry were used to assess quantitatively the expression level of circRNAs, CD73, and PD-1 in blood samples from patients with CRC and healthy control individuals. The expression of CD73 and PD-1 molecules was analyzed using FlowJo software, and the expression levels of circRNAs, CD73, and PD-1 were calculated with real-time PCR analysis.</p><p><strong>Results: </strong>Real-time PCR analysis revealed a statistically significant increase in the linear form of hsa_circ_0004771 (linNRIP1) and PD-1 gene expression in patients' blood compared with control individuals. In addition, the circHIPK3:linHIPK3 and circNRIP1:linNRIP1 ratios are statistically significantly higher in patients than in healthy control individuals. The flow cytometry assessment indicated a statistically significant increase in PD-1 on the surface of lymphocytes and monocytes and an increase in CD73 on the granulocytes of patients compared with the healthy control individual.</p><p><strong>Discussion: </strong>Based on these findings, hsa_circ_0000284, hsa_circ_0004771, PD-1, and CD73 were statistically significantly increased in our cancer group. If further research were done, these blood markers could potential be biomarkers for CRC progression.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144287679","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}

{"title":"Anti-parietal cell antibodies in patients with Graves disease.","authors":"Sarra Melayah, Roua Talbi, Mariem Ghozzi, Ibtissem Ghedira","doi":"10.1093/labmed/lmaf019","DOIUrl":"https://doi.org/10.1093/labmed/lmaf019","url":null,"abstract":"<p><strong>Introduction: </strong>Since the 1960s, the term thyrogastric syndrome has defined the association of autoimmune gastritis with autoimmune thyroid disease (ATD). Graves disease, one of the most common autoimmune thyroid diseases, has been associated with autoimmune gastritis. The aim of this study was to evaluate the frequency of anti-parietal cell antibodies (APCAs) in a cohort of patients with Graves disease.</p><p><strong>Methods: </strong>Eighty-three patients with Graves disease and 83 healthy adult blood donors were enrolled. All patients were positive for thyroid-stimulating hormone receptor antibodies (TRAbs). The APCAs were detected using an indirect immunofluorescence technique.</p><p><strong>Results: </strong>The frequency of APCAs was significantly higher in the patients group than in the control group (12% vs 0% [95% UC, 5%-19%]; P = .001). The frequency of APCAs was slightly higher in female patients with Graves disease (12.7%) than in male patients (10%), but the difference was not statistically significant. The mean (SD) titer of TRAbs in APCA-positive patients was not statistically higher than in APCA-negative patients (21.4 [17] IU/L vs 16.8 [14.9] UI/L; P = .37). No correlation was found between titers of APCA and titers of TRAbs (r = -0.49, P = .148).</p><p><strong>Discussion: </strong>Although APCAs are frequent in patients with Graves disease, their significance has to be determined.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144268273","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}

{"title":"Influence of separator gel in blood sampling tubes for perfluoroalkyl and polyfluoroalkyl substances analysis.","authors":"Patrice Dufour, Catherine Pirard, Corinne Charlier","doi":"10.1093/labmed/lmaf023","DOIUrl":"https://doi.org/10.1093/labmed/lmaf023","url":null,"abstract":"<p><strong>Introduction: </strong>For several years, concerns about perfluoroalkyl and polyfluoroalkyl substances (PFAS) have been growing, and clinical laboratories may have to perform a growing number of PFAS analyses. The use of serum tubes without a separator gel is currently recommended for the quantification of PFAS due to the concern that the compounds may adsorb to the gel. The impact of gel adsorption on the accuracy of the results, however, has not been evaluated.</p><p><strong>Methods: </strong>Aliquots from a pool of blood spiked with PFAS were stored in gel-free clot activator tubes (CATs) and gel-containing BD SST II Advance tubes (serum separator tubes) for 2, 8, and 24 hours. The CATs and serum separator tubes were collected from 15 volunteers under typical sampling conditions. Concentrations of 16 PFAS were analyzed using liquid chromatography-tandem mass spectrometry, and the percentage of change in PFAS levels between both tube types was computed.</p><p><strong>Results: </strong>Results showed minimal changes (<5%) for most PFAS within 24 hours, except for long-chain perfluorosulfonates (including perfluorooctane sulfonate), which seemed to exhibit adsorption of the gel. In samples from volunteers, the observed changes were statistically significant for perfluorooctane sulfonate (P <.001).</p><p><strong>Discussion: </strong>Based on our analysis, we recommend using CATs to avoid PFAS underestimation.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144268274","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}

{"title":"The potential of ciliary neurotrophic factor receptor as a biomarker for urine-based noninvasive diagnosis of prostate cancer.","authors":"Hyunsik Kim, Sungryul Yu, Jung-Yoon Yoo","doi":"10.1093/labmed/lmaf025","DOIUrl":"https://doi.org/10.1093/labmed/lmaf025","url":null,"abstract":"<p><strong>Introduction: </strong>Prostate cancer is one of the most commonly diagnosed cancers in men worldwide, and early detection is essential for improving survival. Current diagnostic methods, such as prostate-specific antigen tests and biopsies, have limitations, emphasizing the need for noninvasive biomarkers.</p><p><strong>Methods: </strong>Proteomics analysis was performed on urine samples from patients with prostate cancer and healthy individuals to identify differentially expressed proteins. Publicly available datasets, including the National Center for Biotechnology Information Gene Expression Omnibus (GEO) and The Cancer Genome Atlas (TCGA), were analyzed to validate gene expression patterns and their association with survival outcomes.</p><p><strong>Results: </strong>Proteomics analysis identified 18 statistically significantly altered proteins in patients with prostate cancer, including reduced expression of ciliary neurotrophic factor receptor (CNTFR). Validation with GEO and TCGA datasets confirmed lower CNTFR expression in prostate cancer tissues than in normal tissues. Reduced CNTFR expression was associated with poorer overall survival and disease-free survival.</p><p><strong>Discussion: </strong>CNTFR is a promising noninvasive diagnostic biomarker for prostate cancer. Its reduced expression in urine and tissues, along with its association with poor prognosis, highlights its potential for improving prostate cancer diagnosis and outcomes through noninvasive methods.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144268276","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}

{"title":"A study of soluble CD30 in patients with primary immune thrombocytopenia.","authors":"Amira M N Abdelrahman, Yasser Mahmoud Ismail, Aliaa Mohammed Diab, Eman Abdel Gawad Abdel Wahab Rizk, Seham Gouda Ameen","doi":"10.1093/labmed/lmaf020","DOIUrl":"https://doi.org/10.1093/labmed/lmaf020","url":null,"abstract":"<p><strong>Introduction: </strong>The primary cause of immune thrombocytopenic purpura (ITP), an acquired type of thrombocytopenia, is the destruction of platelets by autoantibodies. Nowadays, there is a lot of interest in using noninvasive biomarkers to diagnose and detect the severity of many disorders. This study aimed to evaluate the association of one such biomarker, CD30, with primary immune thrombocytopenia.</p><p><strong>Methods: </strong>The study included 50 patients with ITP and 30 healthy individuals with matched age and sex used as a control group. For all participants, the messenger RNA (mRNA) expression of CD30 was measured by real-time polymerase chain reaction, and the concentration of plasma soluble CD30 (sCD30) was estimated using enzyme-linked immunosorbent assay.</p><p><strong>Results: </strong>The plasma sCD30 level was substantially higher in patients with ITP than in control individuals (P = .043), and the expression level of CD30 mRNA was substantially higher in patients with ITP than in control individuals (P < .001). In addition, the plasma sCD30 level was higher in active ITP cases than in remission ITP cases (P < .001), and the expression of CD30 mRNA was substantially higher in active ITP cases than in remission ITP cases (P < .001).</p><p><strong>Discussion: </strong>Estimation of plasma sCD30 and CD30 mRNA levels has good utility for assessing the disease activity in patients with ITP.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144268272","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}