Clinical laboratory最新文献

A Case of Coagulation Dysfunction Caused by Antithrombin Pittsburgh Mutation. 抗凝血酶匹兹堡突变致凝血功能障碍1例。

IF 0.7 4区医学

Clinical laboratory Pub Date : 2025-06-01 DOI: 10.7754/Clin.Lab.2024.241237

Aosen Dong, Xiao Zhou

{"title":"A Case of Coagulation Dysfunction Caused by Antithrombin Pittsburgh Mutation.","authors":"Aosen Dong, Xiao Zhou","doi":"10.7754/Clin.Lab.2024.241237","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241237","url":null,"abstract":"Background: In clinical practice, coagulation dysfunction resulting from the antithrombin Pittsburgh mutation is rare and prone to misdiagnosis.Methods: Coagulation time was measured using coagulation methods, and coagulation factor activity was measured using chromogenic substrate methods. Platelet aggregation function was assessed by light transmission aggregometry (LTA), serum protein was determined through capillary electrophoresis, and mutations were detected by whole-exome high-throughput sequencing.Results: A 16-year-old female patient had significantly prolonged activated partial thromboplastin time (APTT) and thrombin time (TT). Moreover, the activity of coagulation factors VIII and IX was markedly decreased. Normal human plasma failed to correct the APTT, and the lupus anticoagulant screening test was normal. The coagulation factor VIII inhibitor was 0.10 BU/mL, while the factor IX inhibitor was 1.60 BU/mL. Protamine could not correct the TT. The mother had multiple postoperative bleedings and died due to massive postpartum hemorrhage. Through whole-exome sequencing for genetic testing of hereditary diseases, an antithrombin Pittsburgh mutation associated with the SERPINA1 gene was revealed.Conclusions: Patients with the antithrombin Pittsburgh mutation show significant coagulation abnormalities, with their clinical bleeding manifestations varying considerably. Bleeding from trauma or surgery may be a prominent feature in these patients.","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 6","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Dynamic Changes in T and B Lymphocyte Subsets Throughout Pregnancy: Establishing Reference Ranges and Clinical Implications. 妊娠期间T和B淋巴细胞亚群的动态变化：建立参考范围和临床意义。

IF 0.7 4区医学

Clinical laboratory Pub Date : 2025-06-01 DOI: 10.7754/Clin.Lab.2024.241024

Rong Bao, Linzi Miao, Xiao Sun, Yan Gong, Ran You, Yao Lu, Chenxue Qu

{"title":"Dynamic Changes in T and B Lymphocyte Subsets Throughout Pregnancy: Establishing Reference Ranges and Clinical Implications.","authors":"Rong Bao, Linzi Miao, Xiao Sun, Yan Gong, Ran You, Yao Lu, Chenxue Qu","doi":"10.7754/Clin.Lab.2024.241024","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241024","url":null,"abstract":"Background: The immune function of pregnant women undergoes adjustments to meet gestational requirements, which differ from healthy adults. This study aimed to establish reference ranges for lymphocyte subpopulation during pregnancy and explore changes in immune function during different stages of pregnancy.Method: The participants were divided into the early pregnancy group (143 cases), mid-pregnancy group (42 cases), late pregnancy group (34 cases), postpartum group (3 cases), and postnatal group (10 cases). Peripheral blood T and B lymphocyte subpopulation were detected using flow cytometry, including a total of 25 cell sub¬groups.Results: There was statistical significance in 7 indicators (naive CD4+ T lymphocytes, central memory CD4+ T lymphocytes, effector memory CD4+ T cells, central memory CD8+ T lymphocytes, CD8+/HLADR+, Th1, and transitional B lymphocytes) among the early pregnancy, mid-pregnancy, and late pregnancy groups. Two indicators (naive CD4+ T lymphocytes and CD8+/HLADR+ T lymphocytes) showed an increasing trend from early pregnancy to late pregnancy, and two indicators (central memory CD4+ T cells and transitional B cells) showed a decreasing trend. Compared to the reference range for healthy adults, four indicators (CD8+ T lymphocytes, CD8+/CD28+ T lymphocytes, effector memory CD8+ T cells and Th2) were higher than those in the normal population and three indicators (Treg cells, naive B lymphocytes, and plasma cells) were lower than those in the normal population.Conclusion: This study delineates significant changes in T and B lymphocyte subsets during pregnancy, establishing crucial reference ranges. These findings enhance our understanding of immune adaptations in pregnancy, offering valuable data for clinical monitoring and management.","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 6","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Epidemiology of Respiratory Pathogens Detected Using a Multiplex Polymerase Chain Reaction Panel at a University Hospital in Korea from 2019 through 2022. 2019 ~ 2022年韩国某大学医院多重聚合酶链式反应检测呼吸道病原体的流行病学

IF 0.7 4区医学

Clinical laboratory Pub Date : 2025-06-01 DOI: 10.7754/Clin.Lab.2024.241136

Jong Ho Lee

{"title":"Epidemiology of Respiratory Pathogens Detected Using a Multiplex Polymerase Chain Reaction Panel at a University Hospital in Korea from 2019 through 2022.","authors":"Jong Ho Lee","doi":"10.7754/Clin.Lab.2024.241136","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241136","url":null,"abstract":"Background: Respiratory infections are a significant global public health concern, influenced by diverse pathogens with seasonal and regional variations. This study aimed to investigate the patterns of respiratory pathogen infections in Daegu, Korea, providing foundational data for infection prevention and management strategies.Methods: A retrospective analysis was conducted using a rapid multiplex polymerase chain reaction (PCR) respiratory pathogen panel. The study involved patients presenting with respiratory symptoms at a university hospital in Daegu between 2019 and 2022. A total of 8,396 specimens were collected from patients aged 0 - 105 years, and their data were analyzed to determine infection patterns.Results: Out of the 8,396 specimens collected, 2,620 (31.2%) tested positive for respiratory pathogens. Human rhinovirus/enterovirus was the most commonly detected pathogen, present in 1,297 cases (49.5% of positive samples). Coinfections accounted for 20.3% of positive cases. Seasonal analysis indicated higher detection rates during win-ter months. The study also identified age- and gender-specific variations in pathogen prevalence.Conclusions: The findings highlight the predominant respiratory pathogens in Daegu, with significant seasonal, age, and gender-related trends. These data are essential for informing the local public on health strategies and preventive measures for respiratory infections in the region.","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 6","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Analysis of AMEL-Y Null Allele Caused by Deletion Fragments within the Yp11.2 Region in a Chinese Population. 中国人群Yp11.2区域缺失片段导致的AMEL-Y空等位基因分析

IF 0.7 4区医学

Clinical laboratory Pub Date : 2025-06-01 DOI: 10.7754/Clin.Lab.2024.241105

Shuning Zhang, Li Lai

{"title":"Analysis of AMEL-Y Null Allele Caused by Deletion Fragments within the Yp11.2 Region in a Chinese Population.","authors":"Shuning Zhang, Li Lai","doi":"10.7754/Clin.Lab.2024.241105","DOIUrl":"10.7754/Clin.Lab.2024.241105","url":null,"abstract":"Background: The application of amelogenin typing as a sex marker incorporated into short tandem repeat (STR) multiplexes is a common practice in sex determination. The null allele of amelogenin Y (AMEL-Y) caused by mutations in the Y chromosome can lead to erroneous interpretations and potentially significant errors in forensic sex determination.Methods: In this study, the amelogenin gene of 7,359 unrelated male individuals from the Chinese Han population was genotyped using a PowerPlex® 21 kit. Individuals with the AMEL-Y null allele whose sex typing results were discordant were subjected to Y-STR haplotyping and Y chromosome microdeletion detection.Result: The frequency of the AMEL-Y null allele in our study cohort from Fujian province was 0.027%. Two unrelated male individuals with the AMEL-Y null allele were identified. One individual showed allele dropout at DYS576, DYS570, DYS458, DYS456, and AMEL-Y loci; this deletion was at least 3.59 Mb in length. The other individual and his son presented the same pattern of deletion of DYS522, DYS570, DYS576, and AMEL-Y. However, no loss of sequence-tagged site (STS) loci was found in the three samples after Y chromosome microdeletions were detected. The results of azoospermia factor (AZF) and sex-determining region Y (SRY) gene analyses were positive, and the male sex of the individuals was ultimately confirmed.Conclusion: AMEL-Y null allele can lead to misjudgment in sex determination. In practical situations, analysis of other Y chromosome genetic markers that are also located in the Yp11.2 region can be valuable for verifying locus deletion and determining the deletion range. Furthermore, the use of combined multimarker detection represents a trend for gender determination in individual identification, particularly in cases where the AMEL-Y null allele is present.","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 6","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

A Rare Case of Follicular Lymphoma with both Malignant Pleural Effusion and Ascites. 滤泡性淋巴瘤合并恶性胸腔积液及腹水1例。

IF 0.7 4区医学

Clinical laboratory Pub Date : 2025-06-01 DOI: 10.7754/Clin.Lab.2024.241138

Xiuping Xu, Qing Wang, Liqing Gao

{"title":"A Rare Case of Follicular Lymphoma with both Malignant Pleural Effusion and Ascites.","authors":"Xiuping Xu, Qing Wang, Liqing Gao","doi":"10.7754/Clin.Lab.2024.241138","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241138","url":null,"abstract":"Background: Follicular lymphoma (FL), a type of non-Hodgkin's lymphoma (NHL) originating from follicular center B cells, is clinically highly heterogeneous. Its typical immunophenotype is CD5- CD10+ CD19+ with t(14;18) (q32;q21). Liquid-based preparation and smear microscopic examination are common laboratory methods in patients with tumor invasion in the serous cavity.Methods: Pleural effusion and ascites were collected and sent to the laboratory for liquid-based preparation and smear microscopic examination.Results: \"Ascites\" liquid-based preparation and cell wax blocks: found scattered heteromorphic cells, IHC: Bcl-2 (+), Bcl-6 (-), CD20 (-), CD3 (slight+), CD79a (+), Ki 67 (40%+), c-myc (part+). Rivalta test of pleural effusion and ascites was positive, the nucleated cell counts were 1,105 x 106/L and 3,960 x 106/L, and lymphoma cells accounted for 20% and 10%, respectively.Conclusions: FL, in which lymphoma cells infiltrate both thorax and abdomen, is rarely seen clinically and develops rapidly. Early FL patients are expected to get long-term disease control, but late FL cannot be cured, so we should adhere to annual physical examination for early detection and treatment.","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 6","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Evaluating Serum Beta-2-Microglobulin Levels for Uremic Pericarditis Risk in End-Stage Renal Disease Patients. 评估终末期肾病患者尿毒症心包炎风险的血清β -2微球蛋白水平

IF 0.7 4区医学

Clinical laboratory Pub Date : 2025-06-01 DOI: 10.7754/Clin.Lab.2024.240903

Jing J Zhang, Shui X Wang, Lei Zhang

{"title":"Evaluating Serum Beta-2-Microglobulin Levels for Uremic Pericarditis Risk in End-Stage Renal Disease Patients.","authors":"Jing J Zhang, Shui X Wang, Lei Zhang","doi":"10.7754/Clin.Lab.2024.240903","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.240903","url":null,"abstract":"Background: The aim of this study was to investigate the clinical significance of serum β-2-microglobulin (B2M) in predicting the development of uremic pericarditis (UP) in patients with end-stage renal disease (ESRD).Methods: Three hundred ESRD patients who started hemodialysis and underwent echocardiography were selected. The clinical data of 300 ESRD patients were obtained through the hospital medical record system. Serum B2M levels were measured 24 hours before starting hemodialysis. Risk factors for the occurrence of UP in ESRD patients were analyzed by logistic regression. Predictive value of serum B2M levels for the development of UP in ESRD patients was analyzed by ROC curve.Results: Twenty-eight out of 300 ESRD patients developed UP. Serum B2M levels were higher in ESRD patients with UP. Higher serum B2M level was a risk factor for UP in ESRD patients. Serum B2M levels had a high predictive value for the development of UP in ESRD patients.Conclusions: Serum B2M levels have a high predictive value for the development of UP in ESRD patients, and high serum B2M levels are associated with UP risk.","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 6","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Flow Cytometric Evaluation of Erythrocytes and Their Red Blood Cell Indices in Helicobacter Pylori Patients. 幽门螺杆菌患者红细胞及红细胞指标的流式细胞术评价。

IF 0.7 4区医学

Clinical laboratory Pub Date : 2025-06-01 DOI: 10.7754/Clin.Lab.2024.241011

Mamdouh Allahyani

{"title":"Flow Cytometric Evaluation of Erythrocytes and Their Red Blood Cell Indices in Helicobacter Pylori Patients.","authors":"Mamdouh Allahyani","doi":"10.7754/Clin.Lab.2024.241011","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241011","url":null,"abstract":"Background: Helicobacter pylori (H. pylori) is quite prevalent in Saudi Arabia, causing multiple health issues. The aim of this study was to evaluate the impact of H. pylori on the development of anemia and to measure the levels of CD71+/CD235a+ and CD36+ cells in the peripheral blood of H. pylori individuals.Methods: This study included 145 participants (85 patients with H. pylori and 60 healthy controls) and was conducted in Taif City between August and December 2023. A t-test was used to examine the differences in red blood cell (RBC) indices and the surface markers of RBCs.Results: We found that patients with H. pylori had lower levels of RBC count, hemoglobin, hematocrit, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC). We also showed that the levels of CD71+/CD235a+ cells were higher in the H. pylori group than in the control group. However, CD36+ cells decreased in people with H. pylori compared with the controls.Conclusions: H. pylori infection is linked to the onset of microcytic hypochromic anemia and the circulation of immature erythroid (CD71+/CD235a+) cells. H. pylori diminishes the expression of CD36 in affected patients. Regular evaluation of hematological parameters and eradication of H. pylori infection are advised to mitigate the extragastric health consequences of H. pylori infection.","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 6","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Rare Hemoglobin Variant Hb Handsworth (HBA1:c.55 G>C): Leads to False Positive Diagnosis of Hb S. 罕见血红蛋白变异Hb Handsworth （HBA1:c.55）G>C)：导致Hb S的假阳性诊断。

IF 0.7 4区医学

Clinical laboratory Pub Date : 2025-06-01 DOI: 10.7754/Clin.Lab.2024.241220

Chengxin Wang, Qingfu Li, Weidong Huang, Bingxin Shao

引用次数: 0

A Rare Case of Juvenile Myelomonocytic Leukemia (JMML) with t(3;5)(q25;q34)/NPM::MLF1 Fusion Gene in a Pediatric Patient. 1例罕见的小儿t(3;5)(q25;q34)/NPM::MLF1融合基因的幼年粒细胞白血病（JMML）

IF 0.7 4区医学

Clinical laboratory Pub Date : 2025-06-01 DOI: 10.7754/Clin.Lab.2024.241214

Litao Hu, Xiaoqin Xin

{"title":"A Rare Case of Juvenile Myelomonocytic Leukemia (JMML) with t(3;5)(q25;q34)/NPM::MLF1 Fusion Gene in a Pediatric Patient.","authors":"Litao Hu, Xiaoqin Xin","doi":"10.7754/Clin.Lab.2024.241214","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241214","url":null,"abstract":"Background: Juvenile myelomonocytic leukemia (JMML) is a rare and aggressive pediatric hematologic malignancy characterized by clonal proliferation of myelomonocytic cells. It predominantly affects young children and presents significant diagnostic challenges due to overlapping features with other myeloid disorders. Here, we report the case of a 2-year-old male patient with unique genetic findings involving the NPM::MLF1 fusion gene and NRAS mutation.Methods: A comprehensive diagnostic evaluation was conducted, including physical examination, complete blood count, bone marrow aspiration, flow cytometry, cytogenetic analysis, and molecular testing for fusion genes. Imaging studies, including abdominal ultrasound, were also performed. Therapeutic interventions included hydroxyurea for leukocytosis and supportive transfusions. Family members declined chemotherapy and hematopoi-etic stem cell transplantation.Results: The patient presented with leukocytosis, anemia, thrombocytopenia, splenomegaly, and abnormal bone marrow findings consistent with JMML. Genetic testing revealed a rare t(3;5)(q25;q34) involving the NPM:: MLF1 fusion gene and an NRAS mutation. Supportive treatment was provided, but the family declined definitive chemotherapy and hematopoietic stem cell transplantation.Conclusions: This case represents a rare presentation of JMML with t(3;5)(q25;q34) involving the NPM::MLF1 fusion gene, a finding uncommon in pediatric myeloid malignancies. The presence of this genetic abnormality presents significant diagnostic and therapeutic challenges, emphasizing the need for comprehensive genetic profiling in JMML. The rarity of the NPM::MLF1 fusion complicates the establishment of a standard treatment proto-col, underscoring the necessity for individualized treatment approaches and further research.","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 6","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Juvenile Myelomonocytic Leukemia Masquerading as Severe Sepsis and Pneumonia in an Infant. 伪装成婴儿严重败血症和肺炎的少年髓单细胞白血病。

IF 0.7 4区医学

Clinical laboratory Pub Date : 2025-06-01 DOI: 10.7754/Clin.Lab.2024.241229

Yanru Yang, Ting Li, Xiaofen Zeng, Hui Wang, Xingqin Huang

引用次数: 0