Annals of Laboratory Medicine最新文献

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Utility of ABO Genotyping by Integrating the ABO Gene into Diagnostic Gene Panels for Patients with Hematologic Malignancies. 通过将ABO基因整合到血液恶性肿瘤患者的诊断基因面板中的ABO基因分型的应用。
IF 4.9 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-04-28 DOI: 10.3343/alm.2024.0573
Yun Mi Park,Gye Cheol Kwon,Seon Young Kim
{"title":"Utility of ABO Genotyping by Integrating the ABO Gene into Diagnostic Gene Panels for Patients with Hematologic Malignancies.","authors":"Yun Mi Park,Gye Cheol Kwon,Seon Young Kim","doi":"10.3343/alm.2024.0573","DOIUrl":"https://doi.org/10.3343/alm.2024.0573","url":null,"abstract":"Serologic ABO typing might be hampered in some patients with hematologic malignancies. We performed ABO genotyping using next-generation sequencing as part of a routine hematologic malignancy gene panel to determine the ABO blood type of patients with hematologic malignancies. Targeted sequencing of seven ABO gene exons was performed within a hematologic malignancy gene panel for 520 patients diagnosed with various hematologic malignancies. The distribution of predicted ABO blood phenotypes determined through genotyping was as follows: 33.3% A, 27.3% B, 26.7% O, and 12.7% AB. No significant associations were identified between ABO allele distributions and specific hematologic malignancy diagnoses. We compared the phenotypes predicted using ABO genotyping with serological ABO testing results in 502 samples where serological data were available. All genotyping-based phenotypes were accurate, with 99.8% (501/502) of initial serological results aligning with the true phenotypes. Unusual serological results were observed in 21 samples (4.2%). The percentages of recipient cells containing ABO allele variants indicated chimerism in relapsed patients who had undergone ABO-mismatched transplantation. Thus, incorporating ABO genotyping into the hematology gene panel provides valuable information offering a cost-effective approach to address challenges in blood typing and post-transplant care.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"69 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143885492","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}
引用次数: 0
Evaluation of Six Large Language Models for Clinical Decision Support: Application in Transfusion Decision-making for RhD Blood-type Patients. 6大语言模型临床决策支持评价:在RhD血型患者输血决策中的应用。
IF 4.9 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-04-28 DOI: 10.3343/alm.2024.0588
Jong Kwon Lee,Sooin Choi,Sholhui Park,Sang-Hyun Hwang,Duck Cho
{"title":"Evaluation of Six Large Language Models for Clinical Decision Support: Application in Transfusion Decision-making for RhD Blood-type Patients.","authors":"Jong Kwon Lee,Sooin Choi,Sholhui Park,Sang-Hyun Hwang,Duck Cho","doi":"10.3343/alm.2024.0588","DOIUrl":"https://doi.org/10.3343/alm.2024.0588","url":null,"abstract":"BackgroundLarge language models (LLMs) have the potential for clinical decision support; however, their use in specific tasks, such as determining the RhD blood type for transfusion, remains underexplored. Therefore, we evaluated the accuracy of six LLMs in addressing RhD blood type-related issues in Korean healthcare.MethodsFifteen multiple-choice and true/false questions, based on real-world transfusion scenarios and reviewed by specialists, were developed. The questions were administered twice to six LLMs (Clova X, Gemini 1.0, Gemini 1.5, ChatGPT-3.5, GPT-4.0, and GPT-4o) in both Korean and English. Results were compared against the performance of 22 transfusion medicine experts. For particularly challenging questions, prompt engineering was applied, and the questions were reevaluated.ResultsGPT-4o demonstrated the highest accuracy rate in Korean (0.6), with significant differences compared with those of Clova X and Gemini (P <0.05). In English, the results were similar across all models. The transfusion experts achieved a higher accuracy rate (0.8). Among the five questions subjected to prompt engineering, only GPT-4o correctly responded to one, whereas the other models failed. All LLM models changed their responses or did not respond when the same question was repeated.ConclusionsGPT-4o showed the best overall performance among the models tested and may be beneficial in RhD blood product transfusion decision-making. However, its performance suggests that it may serve best in a supportive role rather than as a primary decision-making tool.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"10 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143885494","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}
引用次数: 0
Comparison of Two Quinupristin-dalfopristin Susceptibility Testing Methods and Two Interpretive Criteria for Enterococcus faecium Bloodstream Isolates from Korean Hospitals. 国内医院两种奎奴普司汀-达福普司汀药敏试验方法及两种粪肠球菌血液分离株解释标准的比较
IF 4.9 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-04-28 DOI: 10.3343/alm.2024.0585
Yong Jun Kwon,Ha Jin Lim,Soo Hyun Kim,Seung A Byun,Ga Yeong Lee,Ga-Gyeong Kim,Seok Hoon Jeong,Jeong Hwan Shin,Young Ah Kim,Young Uh,Jong Hee Shin
{"title":"Comparison of Two Quinupristin-dalfopristin Susceptibility Testing Methods and Two Interpretive Criteria for Enterococcus faecium Bloodstream Isolates from Korean Hospitals.","authors":"Yong Jun Kwon,Ha Jin Lim,Soo Hyun Kim,Seung A Byun,Ga Yeong Lee,Ga-Gyeong Kim,Seok Hoon Jeong,Jeong Hwan Shin,Young Ah Kim,Young Uh,Jong Hee Shin","doi":"10.3343/alm.2024.0585","DOIUrl":"https://doi.org/10.3343/alm.2024.0585","url":null,"abstract":"Enterococcus faecium, particularly in its multidrug-resistant forms, causes invasive nosocomial infections. Given the limited data comparing the effectiveness of the European Committee on Antimicrobial Susceptibility Testing (EUCAST) and the CLSI clinical breakpoints (CBPs) for quinupristin-dalfopristin (QD) resistance and the need to evaluate their practical application, we retrospectively investigated the susceptibility patterns of 287 E. faecium bloodstream isolates from Korean hospitals to QD using the updated EUCAST and CLSI CBPs and two antimicrobial susceptibility testing methods: disk diffusion (DD) and Sensititre broth microdilution (Sensititre). QD resistance rates were 5.9% (CLSI) and 18.8% (EUCAST) for DD and 22.6% (CLSI) and 28.2% (EUCAST) for Sensititre. The most prevalent QD resistance gene types among QD-resistant isolates were ermB+msrC+ or ermB-msrC+. Categorical agreement between DD and Sensititre ranged from 77.7% to 90.7%, depending on the testing method and CBPs applied. The EUCAST zone diameter CBPs more effectively help identify QD-resistant E. faecium isolates using the DD method than the CLSI zone diameter CBPs. In comparison, the CLSI minimum inhibitory concentration (MIC) CBPs provide more reliable results for resistance classification in the Sensititre method than EUCAST MIC CBPs. These findings would help improve clinical decision-making for treating multidrug-resistant E. faecium infections.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"39 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143885495","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}
引用次数: 0
In-vitro Activities of Zoliflodacin and Solithromycin Against Neisseria gonorrhoeae Isolates from Korea. 唑氟菌素和索红霉素对韩国淋病奈瑟菌的体外活性研究。
IF 4.9 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-04-28 DOI: 10.3343/alm.2024.0522
Kyoung Ho Roh,Nguyen Dinh Luong,Changseung Liu,Young Hee Seo,Hyukmin Lee,Magnus Unemo,Kyungwon Lee
{"title":"In-vitro Activities of Zoliflodacin and Solithromycin Against Neisseria gonorrhoeae Isolates from Korea.","authors":"Kyoung Ho Roh,Nguyen Dinh Luong,Changseung Liu,Young Hee Seo,Hyukmin Lee,Magnus Unemo,Kyungwon Lee","doi":"10.3343/alm.2024.0522","DOIUrl":"https://doi.org/10.3343/alm.2024.0522","url":null,"abstract":"Novel antimicrobial agents are continually developed to address the global threat of multidrug-resistant Neisseria gonorrhoeae. Promising candidates include zoliflodacin and, possibly, solithromycin. We evaluated their in-vitro activities against gonococcal isolates collected in Korea. In total, 250 N. gonorrhoeae isolates obtained across Korea between 2016 and 2018 were used to determine the minimum inhibitory concentrations (MICs) of 10 therapeutic agents using the CLSI agar dilution method. Most isolates (94.8%, 237/250) demonstrated non-susceptibility to penicillin G, tetracycline, and ciprofloxacin, and susceptibility to ceftriaxone and spectinomycin was substantially high. The half-maximal IC (MIC50) and 90% IC (MIC90) values for zoliflodacin were 0.03 and 0.06 μg/mL, respectively; 0.06 and 0.12 μg/mL, respectively, for solithromycin; and 0.03 and 0.12 μg/mL, respectively, for ceftriaxone. Notably, no cross-resistance was observed between zoliflodacin and ciprofloxacin, despite both targeting DNA topoisomerase II enzymes. Zoliflodacin and solithromycin demonstrated significant in-vitro activity against multidrug-resistant N. gonorrhoeae isolates, and zoliflodacin has shown non-inferiority to ceftriaxone/azithromycin dual therapy in a clinical phase 3 trial. Collectively, our findings highlight the potential of zoliflodacin as a novel therapeutic agent for gonococcal infections, particularly in the context of rising multidrug resistance, and highlight the need for continued surveillance and development of alternative antimicrobial strategies.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"36 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143885541","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}
引用次数: 0
Vitamin K Deficiency: Diagnosis and Management. 维生素K缺乏:诊断和管理。
IF 4.9 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-04-24 DOI: 10.3343/alm.2024.0590
Natalie Mathews,Catherine P M Hayward
{"title":"Vitamin K Deficiency: Diagnosis and Management.","authors":"Natalie Mathews,Catherine P M Hayward","doi":"10.3343/alm.2024.0590","DOIUrl":"https://doi.org/10.3343/alm.2024.0590","url":null,"abstract":"Vitamin K (VK) deficiency (VKD) commonly causes coagulopathy across the age spectrum. The reduced form of VK is an essential cofactor for the post-translational γ-carboxylation of coagulation factors (Fs) II, VII, IX, and X; proteins C and S; and additional proteins. This carboxylation creates high-affinity calcium-binding sites that are important for their functions. VK is a fat-soluble vitamin, with half of the daily needs met by vitamin K1 from the diet (particularly green leafy vegetables) and the other half met by vitamin K2 produced by gut flora. VKD can develop within days because of limited tissue stores of VK. VKD increases risks for bleeding, with neonates and infants at the highest risk unless they are administered routine VK prophylaxis at birth. Diagnosing VKD is challenging because of the different forms and half-lives of VK isoforms. Often, patients with suspected VKD-related coagulopathies are assessed for coagulopathy correction within 1-2 days after receiving VK, either orally or parenterally. VKD increases the plasma levels of proteins induced by the absence of VK, such as des-γ-carboxylated factor II, which is more commonly used as a biomarker for hepatocellular carcinoma than as a VKD biomarker. VKD causes notable discrepancies in FII levels measured by factor assays based on the prothrombin time (PT) rather than Ecarin reagents, as the Ecarin prothrombin activator directly converts normal and des-γ-carboxylated FII to meizothrombin (resulting in higher FII levels than estimated with PT reagents). In this review, we summarize current information on the causes, consequences, diagnosis, prevention, and treatment of VKD.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"69 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143872110","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}
引用次数: 0
Optimized Protocol for Producing Pathogen-inactivated Double-dose Platelet Concentrates From Six Pooled Buffy Coats 从六件汇集的 Buffy Coat 中生产病原体灭活的双剂量血小板浓缩物的优化方案。
IF 3.9 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-21 DOI: 10.3343/alm.2024.0555
Marco Amato, Lisa Seekircher, Lena Tschiderer, Peter Willeit, Harald Schennach, Anita Siller
{"title":"Optimized Protocol for Producing Pathogen-inactivated Double-dose Platelet Concentrates From Six Pooled Buffy Coats","authors":"Marco Amato, Lisa Seekircher, Lena Tschiderer, Peter Willeit, Harald Schennach, Anita Siller","doi":"10.3343/alm.2024.0555","DOIUrl":"10.3343/alm.2024.0555","url":null,"abstract":"<p><strong>Background: </strong>Pooled platelet (PLT) production methods differ worldwide. In Europe, the buffy coat (BC) method is predominantly used, with four to eight BCs being pooled to produce single- or double-dose PLT products. The European Directorate for the Quality of Medicines & HealthCare (EDQM) blood guide and Austrian legislation define a therapeutic PLT unit as ≥ 2 × 10<sup>11</sup> PLTs/unit. We optimized the manufacturing steps to produce doubledose PLT products from six BCs, aiming to enhance production efficiency while maintaining product quality.</p><p><strong>Methods: </strong>We stepwise optimized our protocol starting from five BCs (BC5) (N=107). First, we included an additional BC (BC6) (N=110). Second, we used a hematology analyzer (Sysmex XN-1000) equipped with blood bank mode, which is a novel software application for measuring PLT counts in PLT units (BC6+XN-1000) (N=106). Third, we optimized the blood cell separator (BCS) settings to produce higher-volume BCs (BC6+XN-1000+BCS) (N=107). Fourth, we adapted the centrifugation (BC6+XN-1000+BCS+CF) (N=197). All units were pathogen-inactivated using the INTERCEPT blood system (amotosalen/ultraviolet A).</p><p><strong>Results: </strong>Each optimization step significantly increased the yield ( × 10<sup>11</sup>/PLT concentrate) (<i>P</i> <0.001). The mean yield increased from 2.83 (SD 0.39) for BC5 to 4.81 (SD 0.58) for BC6+XN-1000+BCS+CF. The mean BC volume increased from 47.78 mL (SD 5.09) to 55.59 mL (SD 5.11) following BCS adaptions (<i>P</i> <0.001).</p><p><strong>Conclusions: </strong>After stepwise protocol optimization, we could produce pathogen-inactivated double-dose PLT concentrates by pooling six BCs, complying with national regulations and EDQM quality requirements while reducing costs and minimizing blood wastage.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143668943","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}
引用次数: 0
Advancing Natural Killer Cell Therapy: Genetic Engineering Strategies for Enhanced Cancer Immunotherapy. 推进自然杀伤细胞治疗:增强癌症免疫治疗的基因工程策略。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-01 Epub Date: 2025-01-08 DOI: 10.3343/alm.2024.0380
Joo Dong Park, Ha Eun Shin, Yeon Su An, Hye Jung Jang, Juwon Park, Se-Na Kim, Chun Gwon Park, Wooram Park
{"title":"Advancing Natural Killer Cell Therapy: Genetic Engineering Strategies for Enhanced Cancer Immunotherapy.","authors":"Joo Dong Park, Ha Eun Shin, Yeon Su An, Hye Jung Jang, Juwon Park, Se-Na Kim, Chun Gwon Park, Wooram Park","doi":"10.3343/alm.2024.0380","DOIUrl":"10.3343/alm.2024.0380","url":null,"abstract":"<p><p>Natural killer (NK) cells are pivotal innate immune system components that exhibit spontaneous cytolytic activity against abnormal cells, such as infected and tumor cells. NK cells have shown significant promise in adoptive cell therapy because of their favorable safety profiles and minimal toxicity in clinical settings. Despite their advantages, the therapeutic application of unmodified NK cells faces challenges, including limited in vivo persistence, particularly in the immunosuppressive tumor microenvironment. Recent advances in genetic engineering have enhanced the therapeutic potential of NK cells by addressing these limitations and improving their therapeutic efficacy. In this review, we have described various methodologies for the genetic modification of NK cells, including viral vectors, electroporation, and nanoparticle-based approaches. The ongoing research on nanomaterialbased approaches highlights their potential to overcome current limitations in NK cell therapy, paving the way for advanced cancer therapy and improved clinical outcomes. In this review, we also emphasize the potential of engineered NK cells in cancer immunotherapy and other clinical applications, highlighting the expanding scope of NK cell-based treatments and the critical role of innovative genetic engineering techniques.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"146-159"},"PeriodicalIF":4.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11788708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142943421","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
Artificial Intelligence in Diagnostics: Enhancing Urine Test Accuracy Using a Mobile Phone-Based Reading System. 人工智能在诊断中的应用:利用基于手机的读取系统提高尿液检测的准确性。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-01 Epub Date: 2024-12-16 DOI: 10.3343/alm.2024.0304
Hyun Jin Kim, Manmyung Kim, Hyunjae Zhang, Hae Ri Kim, Jae Wan Jeon, Yuri Seo, Qute Choi
{"title":"Artificial Intelligence in Diagnostics: Enhancing Urine Test Accuracy Using a Mobile Phone-Based Reading System.","authors":"Hyun Jin Kim, Manmyung Kim, Hyunjae Zhang, Hae Ri Kim, Jae Wan Jeon, Yuri Seo, Qute Choi","doi":"10.3343/alm.2024.0304","DOIUrl":"10.3343/alm.2024.0304","url":null,"abstract":"<p><strong>Background: </strong>Urinalysis, an essential diagnostic tool, faces challenges in terms of standardization and accuracy. The use of artificial intelligence (AI) with mobile technology can potentially solve these challenges. Therefore, we investigated the effectiveness and accuracy of an AI-based program in automatically interpreting urine test strips using mobile phone cameras, an approach that may revolutionize point-of-care testing.</p><p><strong>Methods: </strong>We developed novel urine test strips and an AI algorithm for image capture. Sample images from the Chungnam National University Sejong Hospital were collected to train a k-nearest neighbor classification algorithm to read the strips. A mobile application was developed for image capturing and processing. We assessed the accuracy, sensitivity, specificity, and ROC area under the curve for 10 parameters.</p><p><strong>Results: </strong>In total, 2,612 urine test strip images were collected. The AI algorithm demonstrated 98.7% accuracy in detecting urinary nitrite and 97.3% accuracy in detecting urinary glucose. The sensitivity and specificity were high for most parameters. However, this system could not reliably determine the specific gravity. The optimal time for capturing the test strip results was 75 secs after dipping.</p><p><strong>Conclusions: </strong>The AI-based program accurately interpreted urine test strips using smartphone cameras, offering an accessible and efficient method for urinalysis. This system can be used for immediate analysis and remote testing. Further research is warranted to refine test parameters such as specific gravity to enhance accuracy and reliability.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"178-184"},"PeriodicalIF":4.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11788702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142827006","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
Abnormalities in Chromosomes 5 and 7 in Myelodysplastic Syndrome and Acute Myeloid Leukemia. 骨髓增生异常综合征和急性髓系白血病中5号和7号染色体的异常。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-01 Epub Date: 2025-01-08 DOI: 10.3343/alm.2024.0477
Tulene S Kendrick, Daria Buic, Kathy A Fuller, Wendy N Erber
{"title":"Abnormalities in Chromosomes 5 and 7 in Myelodysplastic Syndrome and Acute Myeloid Leukemia.","authors":"Tulene S Kendrick, Daria Buic, Kathy A Fuller, Wendy N Erber","doi":"10.3343/alm.2024.0477","DOIUrl":"10.3343/alm.2024.0477","url":null,"abstract":"<p><p>Chromosomes 5 and 7 are large chromosomes that contain close to 1,000 genes each. Deletions of the long arms or loss of the entire chromosome (monosomy) are common defects in myeloid disorders, particularly MDS and AML. Loss of material from either chromosome 5 or 7 results in haploinsufficiency of multiple genes, with some implicated in leukemogenesis. Abnormalities of one or both occur in up to 15% of MDS and AML cases and co-segregate in half of these. Generally, these chromosomal abnormalities are harbingers of adverse risk in both myeloid disorders. A notable exception is del(5q) in 5q- syndrome, a subtype of MDS. In this review, we describe the pathogenesis and genetic consequences of deletions in chromosomes 5 and 7. Furthermore, we provide an overview of current testing methodologies used in the assessment of these chromosomal defects in hematological malignancies and describe the disease associations and prognostic implications of aberrations in chromosomes 5 and 7 in both MDS and AML.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"133-145"},"PeriodicalIF":4.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11788707/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142943420","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
Clinical Outcomes and Molecular Characteristics of Bacteroides fragilis Infections. 脆弱拟杆菌感染的临床结果和分子特征
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-01 Epub Date: 2024-10-31 DOI: 10.3343/alm.2024.0369
Bongyoung Kim, Myungsook Kim, Kyungwon Lee, Yangsoon Lee
{"title":"Clinical Outcomes and Molecular Characteristics of <i>Bacteroides fragilis</i> Infections.","authors":"Bongyoung Kim, Myungsook Kim, Kyungwon Lee, Yangsoon Lee","doi":"10.3343/alm.2024.0369","DOIUrl":"10.3343/alm.2024.0369","url":null,"abstract":"<p><p><i>Bacteroides fragilis</i> is the most common opportunistic anaerobic pathogen. In the absence of appropriate antimicrobial therapy, mortality rates associated with <i>B. fragilis</i> group infections can reach as high as 50%. Therefore, we aimed to elucidate the clinical characteristics and outcomes of <i>B. fragilis</i> infections and the molecular genetic characteristics of <i>B. fragilis</i> isolates. Forty <i>B. fragilis</i> clinical isolates were collected at Hanyang University Hospital between January 2022 and December 2023. Antimicrobial susceptibility was tested using the agar dilution method. Whole-genome sequencing was conducted using the Illumina platform (Illumina, San Diego, CA, USA). Various multilocus sequence types of <i>B. fragilis</i> were identified, including ST149 (N=4), ST11 (N=4), ST1 (N=3), ST21 (N=2), and ST157 (N=1). The insertion sequence (IS) IS<i>1187</i>, located upstream of <i>cfiA</i>, was associated with high-level carbapenem resistance in the ST157 isolate. <i>B. fragilis</i> toxin genes (bft ) were identified in 30% of isolates. The most common comorbidities were diabetes mellitus (26.5%) and non-metastatic cancer (23.5%). Five patients (14.7%) died within 30 days, and two (5.9%) deaths were directly attributable to <i>B. fragilis</i> infection. The emergence of high-level MIC carbapenem-resistant <i>B. fragilis</i> ST157 has led to caution in the presence of <i>B. fragilis</i> infections.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"223-227"},"PeriodicalIF":4.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11788700/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543375","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
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