Annals of Laboratory Medicine最新文献

{"title":"Ability of the Capillary Electrophoresis-based HbA1c Assay to Detect Rare Hemoglobin Variants.","authors":"Melania Olivieri, Marco Rosetti, Giovanni Poletti, Massimo Maffei, Domenico Coviello, Massimo Mogni, Francesca Capalbo, Morandini Maria Caterina, Valentina Polli, Alice Clementoni, Evita Massari, Marta Monti, Sauro Maoggi, Tommaso Fasano","doi":"10.3343/alm.2024.0182","DOIUrl":"https://doi.org/10.3343/alm.2024.0182","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Performance Evaluation of the LabGenius C-CT/NG-BMX Assay for <i>Chlamydia trachomatis</i> and <i>Neisseria gonorrhoeae</i> Detection.","authors":"Yong Kwan Lim, Oh Joo Kweon, Ae Ja Park, Hongkyung Kim, Sumi Yoon, Tae-Hyoung Kim, Mi-Kyung Lee","doi":"10.3343/alm.2024.0118","DOIUrl":"https://doi.org/10.3343/alm.2024.0118","url":null,"abstract":"<p><p>The LabGenius C-CT/NG-BMX assay (LabGenius CT/NG; BIOMEDUX, Gyeonggi, Republic of Korea) is a recently developed real-time PCR assay that can simultaneously detect the sexually transmitted pathogens <i>Chlamydia trachomatis</i> (CT) and <i>Neisseria gonorrhoeae</i> (NG) in genitourinary specimens. We evaluated the analytical performance of this assay in comparison with BD MAX CT/GC/TV (Becton Dickinson, Franklin Lakes, NJ, USA). The results of both assays were in nearly perfect agreement for the detection of CT and NG. LabGenius CT/NG demonstrated acceptable analytical performance, comparable with that of another commercially available kit, and provides a cost-effective option for detecting sexually transmitted pathogens in routine and follow-up testing.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142602922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The First Korean Case of <i>MAN1B1</i>-Congenital Disorder of Glycosylation Diagnosed Using Whole-exome Sequencing and Matrix-assisted Laser Desorption Ionization Time-of-flight Mass Spectrometry.","authors":"Kyoung Bo Kim, Gi Su Lee, Soyoung Shin, Dong-Chan Kim, Donggun Seo, Hyeongjin Kweon, Hyein Kang, Sunggyun Park, Do-Hoon Kim, Namhee Ryoo, Soyoung Lee, Jung Sook Ha","doi":"10.3343/alm.2024.0226","DOIUrl":"10.3343/alm.2024.0226","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142589819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endogenous Thrombin Potential Level Helps Predict High Blood Loss in Patients Undergoing Cardiac Surgery.","authors":"Yujin Jung, Jae Woong Choi, Ho Young Hwang, Ja Yoon Gu, Kyung Hwan Kim, Hyun Kyung Kim","doi":"10.3343/alm.2024.0216","DOIUrl":"https://doi.org/10.3343/alm.2024.0216","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142581841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Carrier Frequency and Incidence of <i>MUTYH</i>-Associated Polyposis Based on Database Analysis in East Asians and Koreans.","authors":"Jong Eun Park, Taeheon Lee, Eun Hye Cho, Mi-Ae Jang, Dongju Won, Boyoung Park, Chang-Seok Ki, Sun-Young Kong","doi":"10.3343/alm.2024.0242","DOIUrl":"https://doi.org/10.3343/alm.2024.0242","url":null,"abstract":"<p><strong>Background: </strong>MUTYH-associated polyposis is an autosomal recessive disorder associated with an increased lifetime risk of colorectal cancer and a moderately increased risk of ovarian, bladder, breast, and endometrial cancers. We analyzed the carrier frequency and estimated the incidence of MUTYH-associated polyposis in East Asian and Korean populations, for which limited data were previously available.</p><p><strong>Methods: </strong>We examined 125,748 exomes from the gnomAD database, including 9,197 East Asians, and additional data from 5,305 individuals in the Korean Variant Archive and 1,722 in the Korean Reference Genome Database. All MUTYH variants were interpreted according to the American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines and the Sequence Variant Interpretation guidelines from ClinGen.</p><p><strong>Results: </strong>The global carrier frequency of MUTYH-associated polyposis was 1.29%, with Europeans (non-Finnish) having the highest frequency of 1.86% and Ashkenazi Jews the lowest at 0.06%. East Asians and Koreans had a carrier frequency of 0.35% and 0.37% and an estimated incidence of 1 in 330,409 and 1 in 293,304 in Koreans, respectively, which were substantially lower than the global average of 1 in 24,160 and the European (non-Finnish) incidence of 1 in 11,520.</p><p><strong>Conclusions: </strong>This was the first study to investigate the frequency of carriers of MUTYH-associated polyposis in East Asians, including specific subgroups, utilizing gnomAD and a Korean genome database. Our data provide valuable reference information for future investigations of MUTYH-associated polyposis to understand the genetic diversity and specific variants associated with this condition in East Asian populations.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142575136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>TP53</i> Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study.","authors":"Hyun-Young Kim, Saeam Shin, Jong-Mi Lee, In-Suk Kim, Boram Kim, Hee-Jin Kim, Yu Jeong Choi, Byunggyu Bae, Yonggoo Kim, Eunhui Ji, Hyerin Kim, Hyerim Kim, Jee-Soo Lee, Yoon Hwan Chang, Hyun Kyung Kim, Ja Young Lee, Shinae Yu, Miyoung Kim, Young-Uk Cho, Seongsoo Jang, Myungshin Kim","doi":"10.3343/alm.2024.0351","DOIUrl":"https://doi.org/10.3343/alm.2024.0351","url":null,"abstract":"<p><strong>Background: </strong><i>TP53</i> mutations are associated with poor prognosis in myelodysplastic neoplasm (MDS) and AML. The updated 5th WHO classification and International Consensus Classification (ICC) categorize <i>TP53</i>-mutated MDS and AML as unique entities. We conducted a multicenter study in Korea to investigate the characteristics of <i>TP53</i>-mutated MDS and AML, focusing on diagnostic aspects based on updated classifications.</p><p><strong>Methods: </strong>This study included patients aged ≥ 18 yrs who were diagnosed as having MDS (N=1,244) or AML (N=2,115) at six institutions. The results of bone marrow examination, cytogenetic studies, and targeted next-generation sequencing, including <i>TP53</i>, were collected and analyzed.</p><p><strong>Results: </strong><i>TP53</i> mutations were detected in 9.3% and 9.2% of patients with MDS and AML, respectively. Missense mutation was the most common, with hotspot codons R248/R273/G245/Y220/R175/C238 accounting for 25.4% of <i>TP53</i> mutations. Ten percent of patients had multiple <i>TP53</i> mutations, and 78.4% had a complex karyotype. The median variant allele frequency (VAF) of <i>TP53</i> mutations was 41.5%, with a notable difference according to the presence of a complex karyotype. According to the 5th WHO classification and ICC, the multi-hit <i>TP53</i> mutation criteria were met in 58.6% and 75% of MDS patients, respectively, and the primary determinants were a <i>TP53</i> VAF >50% for the 5th WHO classification and the presence of a complex karyotype for the ICC.</p><p><strong>Conclusions: </strong>Collectively, we elucidated the molecular genetic characteristics of patients with <i>TP53</i>-mutated MDS and AML, highlighting key factors in applying <i>TP53</i> mutation-related criteria in updated classifications, which will aid in establishing diagnostic strategies.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142575133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating the Commutability of Reference Materials for α-Fetoprotein: Accurate Value Assignment With Multiple Systems and Trueness Verification.","authors":"Jianping Zhang, Jing Zhao, Qingtao Wang, Rui Zhang, Yuhong Yue","doi":"10.3343/alm.2023.0447","DOIUrl":"10.3343/alm.2023.0447","url":null,"abstract":"<p><strong>Background: </strong>The accurate measurement of α-fetoprotein (AFP) is critical for clinical diagnosis. However, different AFP immunoassays may yield different results. Appropriate AFP reference materials (RMs) were selected and assigned accurate values for applications with external quality assessment (EQA) programs to standardize AFP measurements.</p><p><strong>Methods: </strong>Forty individual clinical samples and six different concentrations of candidate RMs (Can-RMs, L1-L6) were prepared by the Beijing Center for Clinical Laboratories. The Can-RMs were assigned target values by performing five immunoassays, using WHO International Standard 72/225 as a calibrator, and sent to 45 clinical laboratories in Beijing for AFP measurements. The commutability of all RMs was assessed based on CLSI and the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) approaches. Analytical performance was assessed for compliance based on accuracy (total error, TE), trueness (bias), and precision (CV).</p><p><strong>Results: </strong>The Can-RMs were commutable for all immunoassays using the CLSI approach and for 6 of 10 assay combinations using the IFCC approach. RMs diluted in WHO RM 72/225 were commutable among all assays with the CLSI approach, except for serum matrix (Autolumo vs. Roche analyzer) and diluted water matrix (Abbott vs. Roche/Mindray analyzer), whereas some inconclusive and non-commutable results were found using the IFCC approach. The average pass rates based on the TE, bias, and CV were 91%, 81%, and 95%, respectively.</p><p><strong>Conclusions: </strong>The commutability of the RMs differed between both evaluation approaches. The Can-RMs exhibited good commutability with the CLSI approach, suggesting their suitability for use with that approach as commutable EQA materials with assigned values and for monitoring the performance of AFP measurements.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"507-517"},"PeriodicalIF":4.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375202/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141475828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and Molecular Characterization of Pharyngeal Gonorrhea in Korean Men With Urethritis.","authors":"Kyoung Ho Roh, Changseung Liu, Young Hee Seo, Hyukmin Lee, Sangbong Lee, Young Uh, Kyungwon Lee","doi":"10.3343/alm.2024.0025","DOIUrl":"10.3343/alm.2024.0025","url":null,"abstract":"<p><strong>Background: </strong>Pharyngeal infection is more difficult to diagnose and treat than genital or rectal infection and can act as a reservoir for gonococcal infection. We determined the prevalence of pharyngeal gonorrhea in Korean men with urethritis and analyzed the molecular characteristics and antimicrobial susceptibility of the isolates.</p><p><strong>Methods: </strong>Seventy-two male patients with symptoms of urethritis who visited a urology clinic in Wonju, Korea, between September 2016 and March 2018 were included. Urethral and pharyngeal gonococcal cultures, antimicrobial susceptibility testing, <i>Neisseria gonorrhoeae</i> multi-antigen sequence typing (NG-MAST), and multiplex real-time PCR (mRT-PCR) were performed.</p><p><strong>Results: </strong>Among the 72 patients, 59 tested positive for gonococcus by mRT-PCR. Of these 59 patients, 18 (30.5%) tested positive in both the pharynx and urethra, whereas 41 tested positive only in the urethra. NG-MAST was feasible in 16 out of 18 patients and revealed that 14 patients had the same sequence types in both urethral and pharyngeal specimens, whereas two patients exhibited different sequence types between the urethra and pharynx. Of the 72 patients, 33 tested culture-positive. All patients tested positive only in urethral specimens, except for one patient who tested positive in both. All culture-positive specimens also tested positive by mRT-PCR. All isolates were susceptible to azithromycin and spectinomycin, but resistance rates to ceftriaxone and cefixime were 2.9% and 14.7%, respectively.</p><p><strong>Conclusions: </strong>The prevalence of pharyngeal gonorrhea in Korean men with gonococcal urethritis is as high as 30.5%, highlighting the need for pharyngeal screening in high-risk groups. Ceftriaxone is the recommended treatment for pharyngeal gonorrhea.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"537-544"},"PeriodicalIF":4.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375188/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141733452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of <i>LMX1B</i>.","authors":"Joowon Jang, Hara Im, Hyesu Lee, Hobin Sung, Sung Im Cho, Jee-Soo Lee, Jung Min Ko, Moon-Woo Seong","doi":"10.3343/alm.2024.0140","DOIUrl":"10.3343/alm.2024.0140","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"625-627"},"PeriodicalIF":4.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141747342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review.","authors":"Kwan Hoon Jo, Jaewoong Lee, Jaeeun Yoo, Hoon Seok Kim, Eun Sook Kim, Je Ho Han, Yi Sun Jang, Jae-Seung Yun, Jang Won Son, Soon Jib Yoo, Seung Hwan Lee, Dong Jun Lim, Hyuk-Sang Kwon, Seungok Lee, Sungdae Moon, Myungshin Kim","doi":"10.3343/alm.2023.0376","DOIUrl":"10.3343/alm.2023.0376","url":null,"abstract":"<p><p>Genetic testing is recommended for all patients with pheochromocytomas and paragangliomas (PPGL) to establish genotype-phenotype associations. We investigated germline mutations in 59 patients with PPGL at six Korean university hospitals using next-generation sequencing (NGS) targeting 38 PPGL-associated genes, including those recommended by the Korean PPGL Task Force. Germline mutations were identified in 13 patients (22%), and affected four genes: <i>RET</i>, <i>NF1</i>, <i>VHL</i>, and <i>SDHD</i>. Germline mutations were significantly associated with a family history of PPGL, smaller tumor size, and the presence of other types of tumors. Using 95 Korean PPGL cases with germline mutations identified through a literature review and 13 cases from our cohort, we characterized genotype-phenotype correlations. Mutation hotspots were identified in specific codons of <i>RET</i> (codons 631 and 634), <i>VHL</i> (157 and 167), and <i>SDHB</i> (131 and 253). <i>NF1</i> mutations varied, indicating the absence of common hotspots. These findings highlight the efficacy of the recommended NGS panel for Korean patients with PPGL and the importance of genetic testing in establishing clinical management and personalized therapeutic strategies.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"591-597"},"PeriodicalIF":4.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375186/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141787153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}