Laboratory medicine最新文献_第4页

Peripheral lymphocyte phenotypic characteristics in healthy populations across the lifespan, from infancy to older adults. 从婴儿期到老年健康人群的外周血淋巴细胞表型特征

IF 1

Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmae117

Ting Wang, Rujia Chen, Renren Ouyang, Yun Wang, Wei Wei, Feng Wang, Shiji Wu, Hongyan Hou

{"title":"Peripheral lymphocyte phenotypic characteristics in healthy populations across the lifespan, from infancy to older adults.","authors":"Ting Wang, Rujia Chen, Renren Ouyang, Yun Wang, Wei Wei, Feng Wang, Shiji Wu, Hongyan Hou","doi":"10.1093/labmed/lmae117","DOIUrl":"10.1093/labmed/lmae117","url":null,"abstract":"Introduction: Lymphocyte compartment undergoes dramatic changes during childhood and adulthood. Changes in lymphocyte subtypes with age, from infancy to senescence, are rare.Methods: A total of 364 healthy individuals were included in this study. The population was divided into 2 groups: children and adults.Results: The proportion of naive CD4 T cells decreased gradually in the children group (P < .001), and this decrease was significantly negatively correlated with the adult group (P = .008). Conversely, the percentage of memory CD4 T cells increased, with central memory CD4 T cells showing an increase in both groups and effector memory CD4 T cells especially increasing in the children group (P < .001). A similar pattern of changes was observed in naive CD8 T cells, memory CD8 T cells, and CD45RA-positive regulatory T cells. There was a negative correlation between age and the proportion of naive B cells in the children group (P < .001) as well as plasma B cells in the adult group (P < .001). Sex had no influence on the fluctuation of lymphocyte subsets. Furthermore, positive correlations were observed between the expression of T cells and B cells during the developmental process.Discussion: The observed trends in the distribution of naive and memory lymphocyte subsets offer valuable insights that can help physicians understand patients' immune state and assess prognostic conditions.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"460-468"},"PeriodicalIF":1.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756542","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}

引用次数: 0

Correction to: Is it anti-D or anti-LW? A brief synopsis of the biology of the LW blood group and the importance and differential laboratory methods to discriminate these specificities. 更正：它是反d还是反lw ？简要介绍LW血型的生物学特点，以及鉴别这些特异性的重要性和不同的实验室方法。

IF 1

Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmaf051

引用次数: 0

Genetic variations in pseudoachondroplasia: a review of case reports. 假性软骨发育不全的遗传变异：病例报告综述。

IF 1

Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmae121

Lukasz Petryka, Michal Ordak

引用次数: 0

DNA variants in teratomatous and embryonal components of primary mediastinal nonseminomatous germ cell tumor: a case report and literature review. 原发性纵隔非半细胞性生殖细胞肿瘤畸胎性和胚胎性成分的DNA变异：1例报告和文献复习。

IF 1

Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmae120

Jessica T Tran, Metha R Chea, Koushalya Sachdev, Joshua M Peterson, Gengming Huang, Song Han, Youmin Lin, Bryan Han, Juan Olano, Jianli Dong

{"title":"DNA variants in teratomatous and embryonal components of primary mediastinal nonseminomatous germ cell tumor: a case report and literature review.","authors":"Jessica T Tran, Metha R Chea, Koushalya Sachdev, Joshua M Peterson, Gengming Huang, Song Han, Youmin Lin, Bryan Han, Juan Olano, Jianli Dong","doi":"10.1093/labmed/lmae120","DOIUrl":"10.1093/labmed/lmae120","url":null,"abstract":"Introduction: Primary germ cell tumors (GCTs) are highly malignant and often affect young adult men. They commonly occur in the reproductive organs but can also affect structures along the body's midline, including the mediastinum, retroperitoneum, and pineal gland.Methods: We present the genetic analyses of a 21-year-old African American man diagnosed with primary GCT of the anterior mediastinum.Results: DNA variants of NRAS and TP53 were identified in the teratomatous and embryonic components of his tumor. These variants were not identified in benign tissue, indicating their somatic origin. Several copy number variants were detected in both tumor components, including gains of chromosome 1, 3p, 12p with loss of homozygosity, and 21; segmental loss of 9q; and 13q copy neutral loss of homozygosity. Divergent copy number variants were identified in either teratomatous or embryonic components, including gains of chromosomes 7, 9, and 17 in the teratomatous component and gains of chromosomes 2, 4, 6, 8, and 11 in the embryonic component.Discussion: These DNA alterations may be genetic drivers of tumor initiation or progression in our patient. They may have diagnostic and prognostic value for mediastinal GCTs.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"554-559"},"PeriodicalIF":1.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143733704","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}

引用次数: 0

Hsa-miR-2113-5p is not a key indicator for coronary artery disease: a case-controlled observational study. Hsa-miR-2113-5p不是冠状动脉疾病的关键指标：一项病例对照观察性研究

IF 1

Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmae124

Meisam Rostaminasab Dolatabad, Tayebeh Sadeghi, Zahra Taheri

{"title":"Hsa-miR-2113-5p is not a key indicator for coronary artery disease: a case-controlled observational study.","authors":"Meisam Rostaminasab Dolatabad, Tayebeh Sadeghi, Zahra Taheri","doi":"10.1093/labmed/lmae124","DOIUrl":"10.1093/labmed/lmae124","url":null,"abstract":"Introduction: Coronary artery disease (CAD) is a prevalent inflammatory disease. Interferon λ 1 (IFN-λ1) is a known factor that participates in the pathogenesis of proinflammatory diseases, but the roles of IFN-λ1 in CAD and its regulators have yet to be clarified. Bioinformatic analysis revealed that hsa-miR-2113-5p can target IFN-λ1 with a score of 84. Thus, this project was designed to explore the relative expression of hsa-miR-2113-5p in patients with CAD and its correlation with IFN-λ1 expression.Methods: In this project, 60 Iranian volunteers were enrolled, including 40 people with CAD and 20 people without CAD. Relative expression of hsa-miR-2113-5p and IFN-λ1 was explored using the real-time polymerase chain reaction technique.Results: The results showed that neither hsa-miR-2113-5p nor IFN-λ1 expression levels were different between individuals with CAD and control individuals. There were no correlations among hsa-miR-2113-5p, IFN-λ1, and age in control individuals or individuals with CAD.Discussion: Because individuals with CAD have chronic inflammation and alteration of several genes, no alterations in the molecules demonstrated that chronic inflammation associated with CAD is independent of hsa-miR-2113-5p and IFN-λ1.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"565-569"},"PeriodicalIF":1.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144013382","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}

引用次数: 0

The low-density lipoprotein debate: indirect methods vs direct measurement in the Nepalese population. 低密度脂蛋白之争：尼泊尔人口中间接方法与直接测量

IF 1

Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmaf016

Ranjan Suwal, Vivek Pant, Sushil Ram Shrestha, Prakash Poudel, Sujan Shrestha, Santosh Pradhan, Shital Bhandary

{"title":"The low-density lipoprotein debate: indirect methods vs direct measurement in the Nepalese population.","authors":"Ranjan Suwal, Vivek Pant, Sushil Ram Shrestha, Prakash Poudel, Sujan Shrestha, Santosh Pradhan, Shital Bhandary","doi":"10.1093/labmed/lmaf016","DOIUrl":"10.1093/labmed/lmaf016","url":null,"abstract":"Introduction: Many clinical laboratories use indirect estimation methods for low-density lipoprotein cholesterol (LDL-C) because of cost and practicality. This study compared the accuracy of indirect LDL-C estimates derived from the Friedewald, Puavilai, Hatta, and Martin equations in a Nepalese population.Methods: This retrospective analysis included 7750 patients who underwent lipid profile testing at the Norvic International Hospital, Kathmandu, from February 1 to July 31, 2021. Participants were categorized based on triglyceride levels (<400 mg/dL and ≥400 mg/dL). Pearson correlation, paired t tests, and analysis of variance were employed to assess relationships and differences between directly measured and estimated LDL-C values.Results: The Puavilai equation demonstrated the highest concordance with directly measured LDL-C (92%), followed by the Martin (89%), Friedewald (88%), and Hatta (81%) equations. The Puavilai equation exhibited the smallest discrepancies (mean difference = 8.9 mg/dL) for triglyceride values below 150 mg/dL. The Martin equation was most accurate for triglyceride values above 150 mg/dL (mean difference = 10.0 mg/dL) and remained reliable, even for triglyceride values above 400 mg/dL. The Hatta equation showed the largest estimation errors.Discussion: The Puavilai equation is recommended for estimating LDL-C when triglyceride levels are below 150 mg/dL, while the Martin equation is preferred for levels above this threshold in the Nepalese population.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"541-546"},"PeriodicalIF":1.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144164398","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}

引用次数: 0

A comparison of sequential polymerase chain reaction-based cascade testing vs next-generation sequencing in molecular profiling of myeloproliferative neoplasms: improving testing strategies in light of evolving molecular landscapes. 基于序列聚合酶链反应的级联检测与下一代测序在骨髓增生性肿瘤分子谱分析中的比较：根据不断发展的分子景观改进检测策略

IF 1

Laboratory medicine Pub Date : 2025-09-08 DOI: 10.1093/labmed/lmaf004

Xiaowei Liu, Kritika Krishnamurthy, Rizwan Naeem, D Yitzchak Goldstein

{"title":"A comparison of sequential polymerase chain reaction-based cascade testing vs next-generation sequencing in molecular profiling of myeloproliferative neoplasms: improving testing strategies in light of evolving molecular landscapes.","authors":"Xiaowei Liu, Kritika Krishnamurthy, Rizwan Naeem, D Yitzchak Goldstein","doi":"10.1093/labmed/lmaf004","DOIUrl":"10.1093/labmed/lmaf004","url":null,"abstract":"Introduction: Somatic mutations in the JAK2, CALR, and MPL genes are traditionally tested using a cascading reflex algorithm in BCR::ABL1-negative myeloproliferative neoplasms (MPNs). However, next-generation sequencing (NGS) has revealed that these variants may coexist, exposing limitations in current testing practices.Methods: This pilot study analyzed 3 JAK2 p.V617F-positive MPN cases and 3 cases negative for classical driver mutations using the Oncomine Myeloid Assay GX v2 assay (Thermo Fisher Scientific) on the Genexus Integrated Sequencer (Thermo Fisher Scientific).Results: JAK2 p.V617F status was 100% concordant between polymerase chain reaction (PCR) and NGS. Next-generation sequencing detected a concurrent driver MPL mutation in 1 case, an SF3B1 variant in 1 case, and an IDH2 variant in a JAK2-positive case that have established prognostic and therapeutic significance. In cases negative for conventional targets, NGS detected DNMT3A and TET2 variants, which are associated with clonal hematopoiesis and MPN initiation. One case had a JAK2 p.V617F alteration at a variant allele frequency of 0.9%, below the NGS-reportable range but detectable by PCR, adding another caveat to profiling of MPNs.Discussion: Next-generation sequencing provides comprehensive molecular profiling in patients with MPNs, identifying additional prognostic and therapeutic markers. However, PCR remains superior for detecting low-variant allele frequency variants. We propose an updated MPN testing strategy that integrates PCR and NGS within a reflex algorithm to optimize diagnostics and therapeutic guidance.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"511-516"},"PeriodicalIF":1.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045449","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}

引用次数: 0

Hepcidin values can help predict the responsiveness of roxadustat for treating anemia in patients with chronic kidney disease. Hepcidin值可以帮助预测罗沙司他治疗慢性肾病患者贫血的反应性。

IF 1

Laboratory medicine Pub Date : 2025-08-31 DOI: 10.1093/labmed/lmaf005

Tatsuya Murata, Tatsuhito Fukuoka, Takashi Fujii, Toshiaki Yujiri

{"title":"Hepcidin values can help predict the responsiveness of roxadustat for treating anemia in patients with chronic kidney disease.","authors":"Tatsuya Murata, Tatsuhito Fukuoka, Takashi Fujii, Toshiaki Yujiri","doi":"10.1093/labmed/lmaf005","DOIUrl":"https://doi.org/10.1093/labmed/lmaf005","url":null,"abstract":"Introduction: Hypoxia-inducible factor prolyl hydroxylase inhibitors (HIF-PHIs) are novel therapeutic agents for managing anemia in patients with chronic kidney disease (CKD); however, no clinically viable markers for the anemia-improving effect of HIF-PHI have been reported. Therefore, we evaluated changes in iron metabolism markers and identified predictors of anemia amelioration during HIF-PHi treatment.Methods: We included 48 patients with CKD not undergoing dialysis: 29 patients receiving epoetin β-pegol, an erythropoiesis-stimulating agent (ESA) and 19 patients receiving roxadustat, an HIF-PHi. Markers of iron metabolism, including hepcidin, were measured during treatments using a widely available automated analyzer.Results: The hemoglobin levels did not differ substantially between the HIF-PHi and ESA groups. Patients treated with HIF-PHI exhibited lower serum iron, ferritin, transferrin saturation, and hepcidin values and higher unsaturated iron-binding capacity at 1 month than did patients receiving the ESA. Reduced hepcidin levels at 1 month were strongly associated with increased hemoglobin levels at 3 months.Discussion: Our findings suggest that the hepcidin level, as an initial response, can help predict the responsiveness of the HIF-PHi to anemia in patients with CKD. Measuring hepcidin, an integral indicator of iron metabolism, using standard equipment in general hospital laboratories would be beneficial in routine clinical practice.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144984270","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}

引用次数: 0

Evaluation of preanalytical factors on quantification of amyloid-β (1-42), phosphorylated tau 181, and total tau in cerebrospinal fluid. 分析前因素对脑脊液中淀粉样蛋白-β(1-42)、磷酸化tau 181和总tau定量的评价。

IF 1

Laboratory medicine Pub Date : 2025-08-21 DOI: 10.1093/labmed/lmaf044

Tiffany R Allison, Sonia L La'ulu, Kelly Doyle, Heather A Nelson

{"title":"Evaluation of preanalytical factors on quantification of amyloid-β (1-42), phosphorylated tau 181, and total tau in cerebrospinal fluid.","authors":"Tiffany R Allison, Sonia L La'ulu, Kelly Doyle, Heather A Nelson","doi":"10.1093/labmed/lmaf044","DOIUrl":"https://doi.org/10.1093/labmed/lmaf044","url":null,"abstract":"Introduction: Cerebrospinal fluid (CSF) biomarkers for Alzheimer disease are US Food and Drug Administration approved and implemented on automated platforms, allowing for widespread use and higher throughput. Although low-bind polypropylene tubes for accurate quantification of amyloid-β (Aβ) have been well studied, less is known about the impact of other common preanalytical variables on quantification of biomarkers for Alzheimer disease. This study evaluated the effects of refrigerated transportation and hemolysis on the concentrations of Aβ42, phosphorylated tau 181, and total tau.Methods: The Roche Diagnostics Elecsys β-Amyloid (1-42) CSF II, Elecsys Phospho-Tau (181P) CSF, and Elecsys Total-Tau CSF assays were used on the Roche cobas pro e 801 platform to measure protein concentrations in residual CSF samples. Paired-difference testing was performed to determine the effects of simulated transportation and hemolysis on each analyte.Results: For all 3 analytes, less than 10% difference was observed between the concentrations measured on day 0 and after 14 days of transportation and refrigeration. In contrast, 2.26 g/L free hemoglobin resulted in more than 10% negative bias in Aβ42 measurement compared with the 0 g/L control but did not affect phosphorylated tau 181 or total tau concentrations.Discussion: Refrigerated transportation did not affect the analysis of Aβ42, phosphorylated tau 181, or total tau, whereas hemolysis can negatively affect results of Aβ42.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144984228","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}

引用次数: 0

Platelet parameters and their role in myeloproliferative neoplasms, immune-mediated thrombocytopenia, and myelodysplastic syndrome. 血小板参数及其在骨髓增殖性肿瘤、免疫介导的血小板减少症和骨髓增生异常综合征中的作用。

IF 1

Laboratory medicine Pub Date : 2025-08-16 DOI: 10.1093/labmed/lmaf033

Soon Hee Chang

{"title":"Platelet parameters and their role in myeloproliferative neoplasms, immune-mediated thrombocytopenia, and myelodysplastic syndrome.","authors":"Soon Hee Chang","doi":"10.1093/labmed/lmaf033","DOIUrl":"https://doi.org/10.1093/labmed/lmaf033","url":null,"abstract":"Introduction: Platelet parameters are inexpensive and readily available biomarkers for platelet activation. This study investigated the differences and usefulness of platelet parameters in myeloproliferative neoplasms (MPNs), immune-mediated thrombocytopenia, and myelodysplastic syndrome (MDS), which are major hematologic disorders associated with platelet activation or dysfunction.Methods: We enrolled 418 patients: 186 with MPN, 109 with immune-mediated thrombocytopenia, and 123 with MDS. Platelet count and platelet parameters, including mean platelet volume (MPV), platelet distribution width (PDW), plateletcrit, and mean platelet component (MPC), were measured using an automated hematology analyzer.Results: Platelet parameters, particularly MPV and MPC, showed statistically significant differences in MPN compared with healthy control individuals, indicating the most significant platelet activation in primary myelofibrosis. We noted that MPV, plateletcrit, and MPC differed substantially between immune thrombocytopenic purpura and aplastic anemia compared with healthy control individuals, with statistically significant differences in MPV, PDW, and MPC between immune thrombocytopenic purpura and aplastic anemia. All parameters revealed statistically significant differences between MDS and healthy controls.Discussion: Platelet parameters demonstrated significant differences among patients with MPN, immune-mediated thrombocytopenia, and MDS compared with healthy control individuals, suggesting platelet activation in these disorders. They may also be useful markers for differentiating the causative disease in patients with thrombocytosis or thrombocytopenia.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144860029","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}

引用次数: 0