Annals of Laboratory Medicine最新文献_第9页

A Case of Bidirectional ABO- and RhD-Incompatible Liver Transplantation in a Mongolian Patient With Asian-Type DEL. 一例双向 ABO 和 RhD 不相容的蒙古族亚洲型 DEL 患者的肝移植。

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-01-01 Epub Date: 2024-10-31 DOI: 10.3343/alm.2024.0399

Takho Kang, Ryoojung Choi, Dong-Sik Kim, Duck Cho, Dae Won Kim

引用次数: 0

Endogenous Thrombin Potential Level Helps Predict High Blood Loss in Patients Undergoing Cardiac Surgery. 内源性凝血酶潜能值有助于预测心脏手术患者的高失血率

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-01-01 Epub Date: 2024-11-06 DOI: 10.3343/alm.2024.0216

Yujin Jung, Jae Woong Choi, Ho Young Hwang, Ja Yoon Gu, Kyung Hwan Kim, Hyun Kyung Kim

引用次数: 0

Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans. 基于数据库分析的东亚人和韩国人 MUTYH 相关性息肉病的携带者频率和发病率。

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-01-01 Epub Date: 2024-11-05 DOI: 10.3343/alm.2024.0242

Jong Eun Park, Taeheon Lee, Eun Hye Cho, Mi-Ae Jang, Dongju Won, Boyoung Park, Chang-Seok Ki, Sun-Young Kong

{"title":"Carrier Frequency and Incidence of MUTYH-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":"10.3343/alm.2024.0242","url":null,"abstract":"Background: 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.Methods: 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.Results: 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.Conclusions: 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.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"77-84"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609714/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Rare Non-Cryptic NUP98 Rearrangements Associated With Myeloid Neoplasms and Their Poor Prognostic Impact. 与骨髓性肿瘤相关的罕见非加密 NUP98 重排及其不良预后影响

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-01-01 Epub Date: 2024-09-30 DOI: 10.3343/alm.2024.0190

Min-Seung Park, Boram Kim, Jun Ho Jang, Chul Won Jung, Hee-Jin Kim, Hyun-Young Kim

{"title":"Rare Non-Cryptic NUP98 Rearrangements Associated With Myeloid Neoplasms and Their Poor Prognostic Impact.","authors":"Min-Seung Park, Boram Kim, Jun Ho Jang, Chul Won Jung, Hee-Jin Kim, Hyun-Young Kim","doi":"10.3343/alm.2024.0190","DOIUrl":"10.3343/alm.2024.0190","url":null,"abstract":"Background: NUP98 rearrangements (NUP98r), associated with various hematologic malignancies, involve more than 30 partner genes. Despite their clinical significance, reports on the clinicopathological characteristics of rare NUP98r remain limited. We investigated the characteristics of patients with myeloid neoplasms harboring NUP98r among those identified as having 11p15 translocation in chromosomal analysis.Methods: We retrospectively reviewed results from bone marrow chromosomal analyses conducted between 2011 and 2023 and identified 15 patients with 11p15 translocation. Subsequently, NUP98r were evaluated using FISH and/or reverse transcription PCR, and clinical and laboratory data of the patients were analyzed.Results: NUP98r were identified in 11 patients initially diagnosed as having AML (N=8), myelodysplastic syndrome (N=2), or chronic myelomonocytic leukemia (N=1), with a median age of 44 yrs (range, 4-77 yrs). Three patients had a history of chemotherapy. In total, five NUP98 fusions were identified: NUP98::DDX10 (N=3), NUP98::HOXA9 (N=2), NUP98::PSIP1 (N=2), NUP98::PRRX1 (N=1), and NUP98::HOXC11 (N=1). Patients with NUP98r exhibited a poor prognosis, with a median overall survival of 12.0 months (95% confidence interval [CI], 3.4-29.6 months) and a 5-yr overall survival rate of 18.2% (95% CI, 5.2%-63.7%).Conclusions: Our study revealed the clinical and genetic characteristics of patients with myeloid neoplasms harboring rare and non-cryptic NUP98r. Given its association with poor prognosis, a comprehensive evaluation is crucial for identifying previously underdiagnosed NUP98r in patients with myeloid neoplasms.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"53-61"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609711/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142340072","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}

引用次数: 0

Ability of the Capillary Electrophoresis-based HbA1c Assay to Detect Rare Hemoglobin Variants. 基于毛细管电泳的 HbA1c 检测法检测罕见血红蛋白变异的能力。

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-01-01 Epub Date: 2024-11-12 DOI: 10.3343/alm.2024.0182

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

引用次数: 0

Evaluation of the Disk Diffusion Test for Bacteroides fragilis Group Clinical Isolates. 对脆弱拟杆菌群临床分离菌的盘扩散试验进行评估。

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-01-01 Epub Date: 2024-09-30 DOI: 10.3343/alm.2024.0159

Yangsoon Lee, Mi-Hyun Bae, Hyukmin Lee, Myungsook Kim, Kyungwon Lee

{"title":"Evaluation of the Disk Diffusion Test for Bacteroides fragilis Group Clinical Isolates.","authors":"Yangsoon Lee, Mi-Hyun Bae, Hyukmin Lee, Myungsook Kim, Kyungwon Lee","doi":"10.3343/alm.2024.0159","DOIUrl":"10.3343/alm.2024.0159","url":null,"abstract":"Background: Bacteroides fragilis group (BFG) isolates are the most frequently isolated gram-negative anaerobic bacteria and exhibit higher levels of antimicrobial resistance than other anaerobic bacteria. Reliable susceptibility testing is needed because of reports of resistance to the most active antibiotics. Recently, the European Committee on Antimicrobial Susceptibility Testing (EUCAST) introduced disk zone diameter breakpoints. We evaluated the disk diffusion test (DDT) for susceptibility testing of BFG isolates compared with the agar dilution method.Methods: In total, 150 BFG isolates were collected from three institutes in Korea. The agar dilution method was conducted according to the CLSI guidelines. DDT was performed following the EUCAST guideline. Fastidious anaerobe agar supplemented with 5% defibrinated horse blood was used as the culture medium. Nine antimicrobials were evaluated: penicillin, cefoxitin, cefotetan, imipenem, meropenem, piperacillin-tazobactam, clindamycin, moxifloxacin, and metronidazole.Results: The categorical agreement (CA) between the two methods was >90.0% for imipenem, meropenem, clindamycin, and metronidazole. However, the CA for piperacillintazobactam was low, at 83.2%. Major errors were found: 5.4% for imipenem, 7.4% for meropenem, and 12.8% for piperacillin-tazobactam. All minor errors were <10%. We propose using the area of technical uncertainty (ATU) zone-overlapping area for susceptible and resistant strains to reduce errors in the DDT. Outside the ATU, the CAs of cefoxitin, cefotetan, and piperacillin-tazobactam were >90.0%, whereas that of moxifloxacin was increased to 88.5%.Conclusions: The DDT can be a useful alternative antimicrobial susceptibility test for BFG isolates when using the ATU zone to reduce errors.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"70-76"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142340170","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}

引用次数: 0

Toward High-Quality Real-World Laboratory Data in the Era of Healthcare Big Data. 医疗保健大数据时代的高质量真实世界实验室数据。

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-01-01 Epub Date: 2024-09-30 DOI: 10.3343/alm.2024.0258

Sollip Kim, Won-Ki Min

{"title":"Toward High-Quality Real-World Laboratory Data in the Era of Healthcare Big Data.","authors":"Sollip Kim, Won-Ki Min","doi":"10.3343/alm.2024.0258","DOIUrl":"10.3343/alm.2024.0258","url":null,"abstract":"With Industry 4.0, big data and artificial intelligence have become paramount in the field of medicine. Electronic health records, the primary source of medical data, are not collected for research purposes but represent real-world data; therefore, they have various constraints. Although structured, laboratory data often contain unstandardized terminology or missing information. The major challenge lies in the lack of standardization of test results in terms of metrology, which complicates comparisons across laboratories. In this review, we delve into the essential components necessary for integrating real-world laboratory data into high-quality big data, including the standardization of terminology, data formats, equations, and the harmonization and standardization of results. Moreover, we address the transference and adjustment of laboratory results, along with the certification for quality of laboratory data. By discussing these critical aspects, we seek to shed light on the challenges and opportunities inherent to utilizing real-world laboratory data within the framework of healthcare big data and artificial intelligence.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"1-11"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609703/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142340073","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}

引用次数: 0

Feasibility of Circulating Tumor DNA Detection in the Cerebrospinal Fluid of Patients With Central Nervous System Involvement in Large B-Cell Lymphoma. 大 B 细胞淋巴瘤中枢神经系统受累患者脑脊液中循环肿瘤 DNA 检测的可行性

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-01-01 Epub Date: 2024-09-30 DOI: 10.3343/alm.2024.0257

Seok Jin Kim, Jin Ju Kim, Mi Ri Park, Bon Park, Kyung Ju Ryu, Sang Eun Yoon, Won Seog Kim, Saeam Shin, Seung-Tae Lee

{"title":"Feasibility of Circulating Tumor DNA Detection in the Cerebrospinal Fluid of Patients With Central Nervous System Involvement in Large B-Cell Lymphoma.","authors":"Seok Jin Kim, Jin Ju Kim, Mi Ri Park, Bon Park, Kyung Ju Ryu, Sang Eun Yoon, Won Seog Kim, Saeam Shin, Seung-Tae Lee","doi":"10.3343/alm.2024.0257","DOIUrl":"10.3343/alm.2024.0257","url":null,"abstract":"We explored the utility of cerebrospinal fluid (CSF) circulating tumor DNA (ctDNA) sequencing as a noninvasive diagnostic tool for detecting central nervous system (CNS) involvement in patients with diffuse large B-cell lymphoma (DLBCL). Secondary CNS involvement in DLBCL, although rare (~5% of cases), presents diagnostic and prognostic challenges during systemic disease progression or relapse. Effective treatment is impeded by the blood-brain barrier. This was a prospective cohort study (Samsung Lymphoma Cohort Study III) involving 17 patients with confirmed CNS involvement. High-throughput sequencing was conducted using targeted gene panels designed to detect low-frequency variants and copy number alterations pertinent to lymphomas in ctDNA extracted from archived CSF samples. Despite challenges such as low DNA concentrations affecting library construction, the overall variant detection rate was 76%. Detected variants included those in genes commonly implicated in CNS lymphoma, such as MYD88. The study highlights the potential of CSF ctDNA sequencing to identify CNS involvement in DLBCL, providing a promising alternative to more invasive diagnostic methods such as brain biopsy, which are not always feasible. Further validation is necessary to establish the clinical utility of this method, which could significantly enhance the management and outcomes of DLBCL patients with suspected CNS involvement.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"90-95"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142340171","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}

引用次数: 0

The First Korean Case of MAN1B1-Congenital Disorder of Glycosylation Diagnosed Using Whole-Exome Sequencing and Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry. 韩国首例利用全外显子组测序和基质辅助激光解吸电离飞行时间质谱法诊断出的 MAN1B1 先天性糖基化紊乱病例

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-01-01 Epub Date: 2024-11-07 DOI: 10.3343/alm.2024.0226

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

引用次数: 0

Development and Validation of a Novel Isotope Dilution-Ultraperformance Liquid Chromatography-Tandem Mass Spectrometry Method for Serum C-Peptide. 新型同位素稀释-超高效液相色谱-串联质谱法的开发与验证

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-01-01 Epub Date: 2024-08-23 DOI: 10.3343/alm.2024.0072

Sung-Eun Cho, Jungsun Han, Juyoung You, Jun Hyung Lee, Ahram Yi, Sang Gon Lee, Eun Hee Lee

{"title":"Development and Validation of a Novel Isotope Dilution-Ultraperformance Liquid Chromatography-Tandem Mass Spectrometry Method for Serum C-Peptide.","authors":"Sung-Eun Cho, Jungsun Han, Juyoung You, Jun Hyung Lee, Ahram Yi, Sang Gon Lee, Eun Hee Lee","doi":"10.3343/alm.2024.0072","DOIUrl":"10.3343/alm.2024.0072","url":null,"abstract":"Background: Mass spectrometry (MS) methods exhibit higher accuracy and comparability in measuring serum C-peptide concentrations than immunoassays. We developed and validated a novel isotope dilution-ultraperformance liquid chromatography-tandem MS (ID-UPLC-MS/MS) assay to measure serum C-peptide concentrations.Methods: Sample pretreatment involved solid-phase extraction, ion-exchange solid-phase extraction, and derivatization with 6-aminoquinolyl-N-hydroxysuccinimidylcarbamate (Cayman Chemical, Ann Arbor, Michigan, USA). We used an ExionLC UPLC system (Sciex, Framingham, MA, USA) and a Sciex Triple Quad 6500+ MS/MS system (Sciex) for electrospray ionization in positive-ion mode with multiple charge states of [M+3H]3+ and multiple reaction monitoring transitions. The total run time was 50 mins, and the flow rate was 0.20 mL/min. We evaluated the precision, trueness, linearity, lower limit of quantitation (LLOQ), carryover, and matrix effects. Method comparison with electrochemiluminescence immunoassay (ECLIA) was performed in 138 clinical specimens.Results: The intra- and inter-run precision coefficients of variation were <5% and the bias values for trueness were <4%, which were all acceptable. The verified linear interval was 0.050-15 ng/mL, and the LLOQ was 0.050 ng/mL. No significant carryover or matrix effects were observed. The correlation between this ID-UPLC-MS/MS method and ECLIA was good (R=0.995, slope=1.564); however, the ECLIA showed a positive bias (51.8%).Conclusions: The developed ID-UPLC-MS/MS assay shows acceptable performance in measuring serum C-peptide concentrations. This will be useful in situations requiring accurate measurement of serum C-peptide in clinical laboratories.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"62-69"},"PeriodicalIF":4.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142035102","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}

引用次数: 0