Laboratory medicine最新文献

{"title":"Clinical application of a real-time polymerase chain reaction test for CYP2C19 genotyping based on genotype distribution in a healthy Korean population.","authors":"Kuenyoul Park, Soo Jin Yoo","doi":"10.1093/labmed/lmad070","DOIUrl":"10.1093/labmed/lmad070","url":null,"abstract":"<p><strong>Objective: </strong>With the recent reports of additional alleles of the CYP2C19 gene with decreased or no function, the clinical utility of real-time polymerase chain reaction (PCR)-based testing that detects only a small number of variant targets needs to be evaluated.</p><p><strong>Method: </strong>We retrospectively reviewed 7-year data for real-time PCR test records from a single hospital and analyzed CYP2C19 genotypes from publicly available whole-genome or whole-exome data from a healthy Korean population.</p><p><strong>Results: </strong>Of the 2327 test results in this hospital, the *1 allele was most common (60.5%), followed by *2 (28.0%), *3 (10.1%), and *17 (1.4%). Among 5305 healthy Korean individuals, the frequencies of the *2, *3, and *17 alleles were 28.6%, 9.9%, and 1.0%, respectively, which were not statistically different from those of the hospital data (P = .4439, P = .6025, and P = .1142, respectively). Interestingly, the total frequency of additional nonfunctional alleles (*4, *6, *22, and *24) that could not be detected using real-time PCR was only 0.1%, with a total allele count of 8.</p><p><strong>Conclusion: </strong>Our study shows that the clinical utility of real-time PCR for CYP2C19 genotyping remains satisfactory. However, caution should be exercised because the test can miss patients with decreased CYP2C19 function.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"234-237"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9995007","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":"Long-term alliance for pathology equipment and technology acquisition: a paradigm shift for improved quality and efficiency.","authors":"Gurmukh Singh, Kellie A Vinson, Kari Jones, Brandy Gunsolus, Jeremy Keever, Brooks A Keel","doi":"10.1093/labmed/lmad071","DOIUrl":"10.1093/labmed/lmad071","url":null,"abstract":"<p><strong>Objective: </strong>Personnel costs are the largest single budget item in the clinical laboratory, other major expenses being equipment, analyzers, blood and blood components, and cost of day-to-day consumables. This report describes our experience with developing a long-term relationship with a single major vendor as a paradigm shift from the traditional multiple vendors, multiple contracts, and recurrent extended negotiations. Our objective was to develop a long-term approach for replacement of effete equipment and upgrades to operations in a pathology and laboratory medicine department in collaboration with vendors providing equipment and services.</p><p><strong>Methods: </strong>Major vendors were invited to visit the department to analyze the workload and workflow and suggest integrated solutions to meet the goals of the department. Multiple iterations of the proposals were evaluated, and a recommendation made to the medical center leadership. The vendor, the medical center, and the department jointly developed a 15-year partnership plan to improve the operations of pathology services. The agreement encompasses a range of management and performance criteria for both sides. The salient items discussed were laboratory staffing, turnaround time, workload change, test insourcing, reference laboratory costs, and scholarly productivity and teaching.</p><p><strong>Results: </strong>The agreement reduced laboratory staffing by 21%, eliminated stat tests by reducing the turnaround time for routine tests to less than 45 minutes for 90% of tests, with an increase of 9.1% in the number of tests, Cost avoidance in salary and reference laboratory costs was $3,424,136/year against an expected target of $2 million in total savings, despite not including cost avoidance from promoting appropriate use of laboratory testing for inpatients and increase in revenue from increase in ambulatory testing. Vizient score in laboratory utilization improved from the 94th to 76th percentile. Scholarly output increased by more than 100%.</p><p><strong>Conclusion: </strong>This model of a long-term alliance with a chosen vendor led to improvements in quality and efficiency.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"117-126"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9890484","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 first reported case of double trisomy 10 and 20 in a product of conception.","authors":"Joshua Fernandez De La Vega, Arian Pourmehdi Lahiji, Caitlin Raymond, Song Han, Harshwardhan Thaker, Jianli Dong","doi":"10.1093/labmed/lmad052","DOIUrl":"10.1093/labmed/lmad052","url":null,"abstract":"<p><strong>Background: </strong>Double trisomies are rare findings among products of conception and are often lethal to the developing embryo or fetus.</p><p><strong>Methods: </strong>Here we describe a double trisomy case with symptoms of threatened miscarriage at 9 weeks gestation. Ultrasound revealed an anembryonic pregnancy. Pregnancy was terminated by dilation and curettage at gestational age 11 weeks and 6 days. Histologic examination and chromosome microarray were performed on a formalin-fixed product of conception (POC) sample to identify the cause of the anembryonic pregnancy.</p><p><strong>Results: </strong>Chromosome microarray analysis revealed a female chromosome complement with double trisomies 10 and 20, arr(10,20)x3, consistent with a karyotype of 48,XX,+10,+20.</p><p><strong>Conclusion: </strong>To the best of our knowledge, this is the first reported case of double trisomy 10 and 20 in a POC. Due to nonspecific histopathological findings, chromosomal microarray is a powerful tool in identifying and differentiating chromosomal aneuploidies.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"245-248"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9597818","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 novel high-resolution melting analysis strategy for detecting cystic fibrosis-causing variants.","authors":"Gerardo Raúl Díez Rodríguez, Juan Emilio Figueredo Lago, Anny Armas Cayarga, Yaimé Josefina González González, Iria García de la Rosa, Teresa Collazo Mesa, Ixchel López Reyes, Yulaimy Batista Lozada, Fidel Ramón Rodríguez Calá, Juan Bautista García Sánchez","doi":"10.1093/labmed/lmad058","DOIUrl":"10.1093/labmed/lmad058","url":null,"abstract":"<p><p>Cystic fibrosis (CF), an autosomal recessive disease, is caused by variants in both alleles of the CF transmembrane conductance regulator (CFTR) gene. A new assay based on allele-specific polymerase chain reaction and high-resolution melting analysis was developed for the detection of 18 CF-causing CFTR variants previously identified in Cuba and Latin America. The assay is also useful for zygosity determination of mutated alleles and includes internal controls. The reaction mixtures were normalized and evaluated using blood samples collected on filter paper. The evaluation of analytical parameters demonstrated the specificity and sensitivity of the method to detect the included CFTR variants. Internal and external validations yielded a 100% agreement between the new assay and the used reference tests. This assay can complement CF newborn screening not only in Cuba but also in Latin America.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"185-197"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9758729","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":"Comparison of Sampson and extended Martin/Hopkins methods of low-density lipoprotein cholesterol calculations with direct measurement in pediatric patients with hypertriglyceridemia.","authors":"S M Touhidul Islam, Alagar R Muthukumar, Patricia Mary Jones, Ibrahim Hashim, Jing Cao","doi":"10.1093/labmed/lmad047","DOIUrl":"10.1093/labmed/lmad047","url":null,"abstract":"<p><strong>Objective: </strong>The Friedewald equation is the commonly used method of low-density lipoprotein cholesterol (LDL-C) calculation, requiring reflex to direct LDL-C measurement when triglycerides (TG) ≥ 400 mg/dL. Recently formulated Sampson and extended Martin/Hopkins methods have been validated with TG up to 800 mg/dL and thus have the potential to replace direct LDL-C measurement. Given the growing prevalence of childhood dyslipidemia, the objective of this study was to compare Sampson and extended Martin/Hopkins methods of LDL-C calculation with the direct measurement in a pediatric cohort with 400 ≤ TG ≤ 799 mg/dL.</p><p><strong>Methods: </strong>This study retrieved standard lipid panels and corresponding direct LDL-C measurements of 131 patients with 400 ≤ TG ≤ 799 mg/dL from a pediatric population. Following the application of Sampson and extended Martin/Hopkins calculations, calculated values were compared with direct LDL-C measurements using ordinary least squares linear regression analysis and bias plotting.</p><p><strong>Results: </strong>Both Sampson and extended Martin/Hopkins LDL-C calculations exhibited a strong correlation with the direct measurements (Pearson r = 0.89) in patients with 400 ≤ TG ≤ 800 mg/dL. Average percentages of bias of 45% and 21% were found between the direct LDL-C measurements and Sampson or extended Martin/Hopkins calculations, respectively.</p><p><strong>Conclusion: </strong>Both Sampson and extended Martin/Hopkins calculations are applicable as clinical alternatives of direct LDL-C measurement in pediatric patients given 400 ≤ TG ≤ 799 mg/dL.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"140-144"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9918578","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":"Clinical impacts of the rapid diagnostic method on positive blood cultures.","authors":"Ya-Wen Tsai, Bin Zhang, Hsiu-Yin Chou, Hung-Jui Chen, Yu-Chi Hsu, Yow-Ling Shiue","doi":"10.1093/labmed/lmad057","DOIUrl":"10.1093/labmed/lmad057","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate the impact of short-term incubation (STI) protocol on clinical outcomes of bloodstream infection (BSI) patients.</p><p><strong>Methods: </strong>A total of 1363 positive blood culture records from January 2019 to December 2021 were included. The main clinical outcomes included pathogen identification turnaround time (TAT), antimicrobial susceptibility testing (AST) TAT, and length of total hospital stay.</p><p><strong>Results: </strong>The TAT of pathogen identification and AST significantly decreased after implementing the STI protocol (2.2 vs 1.4 days and 3.4 vs 2.5 days, respectively, with P < .001 for both). Moreover, for patients with Gram-negative bacteria (GNB)-infected BSIs, the length of total hospital stay decreased from 31.9 days to 27.1 days, indicating that these patients could be discharged 5 days earlier after implementing the STI protocol (P < .01).</p><p><strong>Conclusion: </strong>The protocol led to a significant reduction in TAT and improved clinical outcomes, particularly for GNB organisms. The findings suggest that the STI protocol can improve patient outcomes and hospital resource utilization in the management of BSIs.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"179-184"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9677164","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":"Approaches to nonlinear curve fitting in laboratory medicine.","authors":"Peter A C McPherson","doi":"10.1093/labmed/lmad069","DOIUrl":"10.1093/labmed/lmad069","url":null,"abstract":"<p><p>Nonlinear curve fitting is an important process in laboratory medicine, particularly with the increased use of highly sensitive antibody-based assays. Although the process is often automated in commercially available software, it is important that clinical scientists and physicians recognize the limitations of the various approaches used and are able to select the most appropriate model. This article summarizes the key nonlinear functions and demonstrates their application to common laboratory data. Following this, a basic overview of the statistical comparison of models is presented and then a discussion of important algorithms used in nonlinear curve fitting. An accompanying Microsoft Excel workbook is available that can be used to explore the content of this article.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"111-116"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9920278","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 novel pyrosequencing strategy for RHD zygosity for predicting risk of hemolytic disease of the fetus and newborn.","authors":"Piao Lv, Jixin Li, Yuan Yao, Xinxin Fan, Chixiang Liu, Hui Li, Huayou Zhou","doi":"10.1093/labmed/lmad051","DOIUrl":"10.1093/labmed/lmad051","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was the development of an accurate and quantitative pyrosequence (PSQ) method for paternal RHD zygosity detection to help risk management of hemolytic disease of the fetus and newborn (HDFN).</p><p><strong>Methods: </strong>Blood samples from 96 individuals were genotyped for RHD zygosity using pyrosequencing assay. To validate the accuracy of pyrosequencing results, all the samples were then detected by the mismatch polymerase chain reaction with sequence-specific primers (PCR-SSP) method and Sanger DNA sequencing. Serological tests were performed to assess RhD phenotypes.</p><p><strong>Results: </strong>Serological results revealed that 36 cases were RhD-positive and 60 cases were RhD-negative. The concordance rate between pyrosequencing assay and mismatch PCR-SSP assay was 94.8% (91/96). There were 5 discordant results between pyrosequencing and the mismatch PCR-SSP assay. Sanger sequencing confirmed that the pyrosequencing assay correctly assigned zygosity for the 5 samples.</p><p><strong>Conclusion: </strong>This DNA pyrosequencing method accurately detect RHD zygosity and will help risk management of pregnancies that are at risk of HDFN.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"145-152"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9675272","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":"Relationship between the systemic immune-inflammatory index and the severity of acute bronchiolitis in children.","authors":"Ömer Furkan Kızılsoy, Muhammet Furkan Korkmaz, Gülsüm Elif Şenkan, Şefika Elmas Bozdemir, Merve Korkmaz","doi":"10.1093/labmed/lmad055","DOIUrl":"10.1093/labmed/lmad055","url":null,"abstract":"<p><strong>Objective: </strong>Acute bronchiolitis (AB) is one of the most common respiratory diseases in early childhood and is still an important health problem worldwide. The systemic immune-inflammatory index (SII) is thought to have potential to be a new-generation inflammatory biomarker. We sought to investigate the value of SII for severity assessment in children with AB.</p><p><strong>Methods: </strong>A total of 74 AB patients were included in a prospective observational study. Patients were classified into 3 AB groups according to this classification: mild (1-5 points), moderate (6-10 points), and severe (11-12 points). Complete blood count, C-reactive protein, and procalcitonin tests were carried out. Modified Tal score was evaluated to determine severity. The performance of parameters to predict the severity of AB was assessed using the receiver operating characteristic (ROC).</p><p><strong>Results: </strong>Whereas neutrophil count (P = .037), neutrophil-to-lymphocyte ratio (P = .030), and SII (P = .030) values increased significantly with disease severity, red cell distribution width (P = .048) values were higher in the moderate AB group. The SII was found to have the highest area under the curve in the comparison of the mild-moderate groups combination and the high group on ROC analysis (P = .009).</p><p><strong>Conclusion: </strong>The SII values of pediatric patients hospitalized with the diagnosis of AB were significantly higher in the high-severity group. The SII may offer additional severity stratification in children with AB.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"169-173"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9682444","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":"Nitrate Reductase Assay for Rapid Determination of Methicillin-Resistant Staphylococcus aureus Clinical Isolates.","authors":"Kubra Yildirim, Cemilenur Atas, Esra Tanyel Akcit, Majda Licina, Ozlem Koyuncu Ozyurt, Mehmet Akif Gun, Ece Simsek, Ahmet Yilmaz Coban","doi":"10.1093/labmed/lmad056","DOIUrl":"10.1093/labmed/lmad056","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the performance of nitrate reductase assay (NRA), a rapid, colorimetric method for the determination of methicillin resistance in Staphylococcus aureus isolates obtained from the culture collection of the Akdeniz University Hospital Central Laboratory, Antalya, Türkiye.</p><p><strong>Materials and methods: </strong>Identification for all 290 S aureus isolates at the species level was performed via matrix-assisted laser desorption/ionization-time of flight. Isolates were tested with NRA for methicillin resistance. The cefoxitin broth microdilution (BMD) method recommended by the Clinical and Laboratory Standards Institute was used as the reference method in the study. S aureus ATCC 29213 and S aureus ATCC 43300 strains were used for quality control.</p><p><strong>Results: </strong>According to Food and Drug Administration criteria, the category agreement between NRA and BMD was found to be 100%. The essential agreement between both methods was determined to be 96.20%. There is no minor, major, or extremely major discrepancy between both methods.</p><p><strong>Conclusion: </strong>The results show that NRA is a rapid, practical, and reliable colorimetric method for detecting MRSA.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"174-178"},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9682446","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}