Clinical laboratory最新文献

{"title":"Immunochemical Characteristics of Half-Molecule IgG Presumed to Lack the CH2 Domain.","authors":"Mayumi Imoto, Toshinori Kamisako","doi":"10.7754/Clin.Lab.2025.250907","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250907","url":null,"abstract":"<p><strong>Background: </strong>Half-molecule immunoglobulins are low-molecular-weight abnormal immunoglobulins composed of one defective heavy chain (H chain) and one light chain (L chain) of normal molecular weight.</p><p><strong>Methods: </strong>The molecular weight of the low molecular weight IgG was determined using SDS-PAGE and immunoblotting with patient serum. To prove that the low molecular weight IgGs were L-chain and deficient γ-chain, SDS-PAGE was used to cut out and reduce the entire gel of unreduced, migrated proteins. Then, a second SDS-PAGE was run.</p><p><strong>Results: </strong>The low molecular weight IgG component was found to consist of normal molecular weight κ chains (32 and 29 kDa) and defective γ chains (37 and 38 kDa). Low molecular weight IgG did not react with anti-γ-CH2 domain antibodies.</p><p><strong>Conclusions: </strong>The low molecular weight ɤ chain was also found to be a half-molecular IgG with a CH2 domain deletion, as inferred from the reactivity of the antibody.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 9","pages":"1998-2002"},"PeriodicalIF":0.7,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963325","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}

{"title":"Early-Onset Wolman Disease in an Infant with Novel Compound Heterozygous LIPA Variants.","authors":"Tingting Zhu, Yue Pu, Dongliu Wei, Tao Wang","doi":"10.7754/Clin.Lab.2025.250940","DOIUrl":"10.7754/Clin.Lab.2025.250940","url":null,"abstract":"<p><strong>Background: </strong>Wolman disease is a rare autosomal recessive lysosomal storage disorder caused by lysosomal acid lipase deficiency, with fewer than 150 cases reported. It often presents in infancy with hepatosplenomegaly and adrenal calcification.</p><p><strong>Methods: </strong>We report a 2-month-old female with abdominal distension, vomiting, hepatosplenomegaly, and bilateral adrenal calcification.</p><p><strong>Results: </strong>Laboratory findings showed anemia, thrombocytopenia, hypoalbuminemia, and elevated liver enzymes. Genetic testing revealed novel compound heterozygous LIPA variants: a paternal frameshift (c.731_732del, p.Gly244Aspfs*24) and a maternal missense (c.605C>G, p.Pro202Arg).</p><p><strong>Conclusions: </strong>This case expands the LIPA variant spectrum and emphasizes the importance of combining clinical data for early diagnosis and counseling.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 9","pages":"2007-2011"},"PeriodicalIF":0.7,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963231","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}

{"title":"Hb J-Guantanamo: a Rare Hemoglobin Variant Identified in Morocco Following Unexpected HbA1c Results.","authors":"N M'chichou, F Adil, Y Eddair, A Biaz, S Bouhsain, A Dami, S El Machtani Idrissi","doi":"10.7754/Clin.Lab.2025.250949","DOIUrl":"10.7754/Clin.Lab.2025.250949","url":null,"abstract":"<p><strong>Background: </strong>While hemoglobin variants are common worldwide, many remain undetected due to their silent clinical expression. Some, however, may compromise the reliability of diagnostic markers such as HbA1c. We report a rare β-globin variant, hemoglobin J-Guantanamo, identified in Morocco.</p><p><strong>Methods: </strong>A hemoglobin variant was incidentally discovered in a 59-year-old patient during hemoglobin A1c measurement. Multiple phenotypic methods were employed for characterization, including capillary electrophoresis, high-performance liquid chromatography, and hemoglobin gel electrophoresis.</p><p><strong>Results: </strong>Based on the concordance of phenotypic findings, the variant was identified as Hb J-Guantanamo. Although the patient remained asymptomatic with no hematologic abnormalities, the variant interfered with HbA1c measurement, highlighting its potential impact on diabetes monitoring.</p><p><strong>Conclusions: </strong>This case underscores the diagnostic challenges associated with rare hemoglobin variants, emphasizes the necessity of multiple analytical methods for accurate identification, and contributes to the limited data on hemoglobinopathies in Morocco.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 9","pages":"2012-2015"},"PeriodicalIF":0.7,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963346","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}

{"title":"Development and Evaluation of Recombinase-Aided Amplification Assay for Rapidly Detecting Escherichia coli in Urine.","authors":"Lei Huang, Xueping Liu, Hao Sun","doi":"10.7754/Clin.Lab.2025.250941","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250941","url":null,"abstract":"<p><strong>Background: </strong>Escherichia coli is the main pathogen of urinary tract infection (UTI). Early and rapid detection for UTI pathogens is still limited. The aim of this study was to develop and evaluate a recombinase-aided amplifica-tion (RAA) assay for rapidly detecting Escherichia coli in urine.</p><p><strong>Methods: </strong>RAA specific primers and probes were designed based on the conserved region of E. coli chuA gene. The optimal primers and probe combinations were screened and identified using a real-time fluorescent RAA assay. The specificity was assessed by detecting E. coli and other none-E. coli uropathogens. The limit of detection (LOD) was determined through serial dilution. One hundred thirty-five midstream urine samples were used to evaluate the sensitivity, specificity, and accuracy. RAA and urine culture were performed in parallel. Urine culture is still the gold standard.</p><p><strong>Results: </strong>The optimal combination of 2 primers with 1 probe was determined based on the real-time fluorescence RAA curves. The LOD of this method is 103 cfu/mL. No cross-reactivity was observed with 12 other uropathogens that are commonly encountered in UTI. Among the 135 urine culture results, 50 of them were E. coli. 75 of them were non-E. coli. The remaining 10 were culture negative. They were detected by both RAA assay and urine culture in parallel. The sensitivity, specificity and accuracy of RAA assay were 94.00%, 91.76%, and 92.59%, respectively.</p><p><strong>Conclusions: </strong>The real-time fluorescent RAA assay for urinary E.coli established in this study is a highly sensitive, specific and cost-effective method. It can be utilized for rapid detection of urinary E.coli within 30 minutes.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 9","pages":"1925-1931"},"PeriodicalIF":0.7,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963253","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}

{"title":"A Normal Phenotype Case of a Small Supernumerary Marker Chromosome Chimeric Carrier with 12p11.21p11.21 Duplication.","authors":"Weiping Chen, Tao Zhang","doi":"10.7754/Clin.Lab.2025.250956","DOIUrl":"10.7754/Clin.Lab.2025.250956","url":null,"abstract":"<p><strong>Background: </strong>sSMC refers to an additional chromosome added to the karyotype of normal human chromosomes, which can be identified by cytogenetic techniques, but its source and structure cannot be determined, and its size is generally ≤ chromosome 20 during metaphase. The clinical phenotype of patients with sSMC can be normal, or they can show severe clinical manifestations such as growth retardation, intellectual disability, and organic dis-eases.</p><p><strong>Methods: </strong>Draw 3 mL of peripheral blood using a heparin anticoagulant tube. Peripheral blood lymphocytes were cultured for 72 hours and then used to prepare sample slides, perform G-banding, and conduct chromosomal karyotype counting and analysis. Draw 2 mL of peripheral blood using an EDTA anticoagulant tube. DNA was extracted by magnetic bead method, and chromosome copy number variation sequencing (CNV-seq) was performed by MGISEQ-2000 sequencer to analyze chromosomal aneuploidy and chromosome copy number variations above 100 kb.</p><p><strong>Results: </strong>The karyotype result of peripheral blood chromosomes in the case was 47,XX,+mar[38]/46,XX[17]. CNV-seq detected approximately 1.47 Mb duplications in 12p11.21p11.21 regions with a copy number of 3.</p><p><strong>Conclusions: </strong>CNV-seq can accurately locate sSMC whose sources and characteristics cannot be identified by traditional chromosomal G-banding technology, which is helpful in determining whether the sSMC of carriers have clinical phenotypic correlation.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 9","pages":"2021-2023"},"PeriodicalIF":0.7,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963212","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}

{"title":"A Rare Case of Fulminant Myocarditis Caused by Epstein-Barr Virus Infection in a Middle-Aged Man.","authors":"Wenjing Yu, Hengliu Huang, Ruoxu Li, Shaoli Deng","doi":"10.7754/Clin.Lab.2025.250931","DOIUrl":"10.7754/Clin.Lab.2025.250931","url":null,"abstract":"<p><strong>Background: </strong>Fulminant myocarditis (FM) is a highly lethal syndrome of abrupt, diffuse cardiac inflammation that precipitates rapid-onset hemodynamic collapse. FM caused by Epstein-Barr virus (EBV) is rare and infrequently reported.</p><p><strong>Methods: </strong>We reported a case of EBV-related FM in a man with respiratory and circulatory failure.</p><p><strong>Results: </strong>The clinical diagnosis was made based on the patient's signs, ECG, ECHO, and significantly elevated levels of inflammatory factors and myocardial injury markers. The etiology was confirmed by mNGS detection of EBV DNA. The patient was successfully treated with VA-ECMO combination with medication therapy.</p><p><strong>Conclusions: </strong>The risk of FM precipitated by EBV infection should not be underestimated. Prompt recognition, targeted therapy, and early circulatory support may avert fatal outcomes.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 9","pages":"2003-2006"},"PeriodicalIF":0.7,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963249","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}

{"title":"Effect of Moderate Altitude Short Stay on Complete Blood Count Parameters.","authors":"Adel Abo Mansour, Husain Y Alkhaldy","doi":"10.7754/Clin.Lab.2025.251018","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.251018","url":null,"abstract":"<p><strong>Background: </strong>High-altitude habitation is known to impose physiological stress, notably affecting red blood cells and hemoglobin concentration. The effects of moderate altitude exposure on leukocytes and platelets remain less well-characterized. This study aimed to longitudinally evaluate hematological adaptations, focusing on leukocyte and platelet dynamics, in sea-level residents exposed to moderate altitude.</p><p><strong>Methods: </strong>A prospective cohort of 45 healthy male international students from West Africa was followed over six months after their arrival at 2,270 meters above sea level (Southwestern Saudi Arabia). Complete blood count (CBC) was measured within 48 hours of arrival, at two months, and at six months. Longitudinal changes in hematological parameters were assessed using mixed-effects linear regression.</p><p><strong>Results: </strong>Exposure of healthy sea-level residents to moderate altitude (2,270 m) led to significant hematological adaptation. Hemoglobin, red blood cells (RBC), and hematocrit increased at two and six months (all p < 0.05), while red cell distribution width (RDW-CV) decreased, indicating more uniform erythropoiesis. Mean corpuscular indices (MCV, MCH, MCHC) remained unchanged. Leukocyte counts were overall stable, but neutrophils declined significantly at both time points (p < 0.01). Lymphocytes rose transiently at two months (p = 0.022), and monocytes increased modestly by six months (p = 0.046). Platelet counts did not change significantly, but platelet volume indices (MPV, PDW) rose consistently (p < 0.001), suggesting altered platelet activation.</p><p><strong>Conclusions: </strong>Moderate altitude exposure triggers increased erythropoiesis, mild neutropenia, and platelet activation without altering platelet count. These changes reflect complex hypoxia-driven mechanisms and highlight the need for altitude-specific CBC reference ranges. Further research is needed to explore their clinical significance.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 9","pages":"1972-1977"},"PeriodicalIF":0.7,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963218","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}

{"title":"Genetic Mutations in Patients with Acute Myeloid Leukemia and Their Impact on Prognosis.","authors":"Chan Wu, Simin Chen, Haoyu Wei, Xiaofeng Yang, Yingying Chen, Yan Li, Zhihua Zhang, Xinhong Yang","doi":"10.7754/Clin.Lab.2025.250963","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250963","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to analyze the mutant gene profile of patients with acute myeloid leukemia (AML) and discuss the value of genetic mutations in disease prognosis stratification.</p><p><strong>Methods: </strong>Clinical data of patients newly diagnosed with AML (excluding acute promyelocytic leukemia, APL), who were admitted to the Department of Hematology of our hospital from October 2018 through October 2023, were analyzed. Bone marrow fluid was collected from patients, and RNA and DNA were extracted. Leukemia fusion genes and myeloid-related gene mutation panels were used for detection. The results of genetic mutations, patients in different age groups and different karyotype groups, were analyzed and compared.</p><p><strong>Results: </strong>A total of 190 newly diagnosed AML patients were included, with a male-to-female ratio of 1:1.06 and a median age of 56 years (range: 8 - 91 years). A total of 357 genetic mutations were detected in 157 patients, among whom 99 (52.1%) had two or more genetic mutations. Genetic mutations (mutation frequency ≥ 10%) were NPM1 (42 cases, 27.45%), FLT3::ITD (34 cases, 22.22%), CEBPA (31 cases, 20.26%), DNMT3A (30 cases, 19.6%), NRAS (24 cases, 15.69%), ASXL1 (23 cases, 15.03%), IDH2 (20 cases, 13.07%), and RUNX1 (17 cases, 11.11%). The most common mutations in males were RUNX1 and ASXL1, in females, it was NPM1. The common mutations in the ≤ 64 years group were NPM1, FLT3::ITD, CEBPA, DNMT3A, NRAS, ASXL1, IDH2, RUNX1, TET2, PTPN11, FLT3, IDH1, TP53, FLT3::TKD, and SRSF2, and in the > 64 years group, it was KIT. According to the cytogenetic prognostic risk stratification, there were 84 patients (44.2%) in the low-risk karyotype group (with a high incidence of CEBPA double mutations), 56 patients (29.5%) in the intermediate-risk karyotype group (with high incidences of NPM1, CEBPA double mutations, FLT3::ITD, TET2, DNMT3A, IDH2, NRAS, IDH1, and PTPN11), and 50 patients (26.3%) in the high-risk karyotype group (with high incidences of RUNX1, ASXL1, NRAS, FLT3::ITD, TP53, CEBPA, DNMT3A, and NPM1). In total, there were 157 cases (82.63%) with genetic mutations (OS: 14.03 months) and 33 cases (17.37%) with no genetic mutations (OS: 17.73 months). There was no statistically significant difference between two groups (p > 0.05).</p><p><strong>Conclusions: </strong>The incidence of genetic mutations varies among AML patients in different age groups and karyotype groups.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 9","pages":"1948-1955"},"PeriodicalIF":0.7,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963280","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}

{"title":"A Case of a Fetus with a Chimeric Duplication of 9p21.1p13.1 and a Normal Pregnancy Outcome.","authors":"Weiping Chen, Ming Che, Caiping Chen, Tao Zhang","doi":"10.7754/Clin.Lab.2025.251019","DOIUrl":"10.7754/Clin.Lab.2025.251019","url":null,"abstract":"<p><strong>Background: </strong>The clinical characteristics of 9p trisomy or 9p partial trisomy syndrome are growth retardation and intellectual disability, auricular deformity, eye distance too wide, sunken eyeballs, bulbous nose, low corners of the mouth, abnormal development of hands and toes and so on.</p><p><strong>Methods: </strong>Fetal amniotic fluid cells were detected through CNV-seq, and the results were analyzed and compared. Conventional G-banding karyotyping was used to detect fetal amniotic fluid cells and parental peripheral blood.</p><p><strong>Results: </strong>The CNV-seq result of amniotic fluid cells showed that about 8.60 Mb chimeric duplication in 9p21.1p 13.1, with a chimeric proportion of 26%, and the variant was classified as likely pathogenic. The karyotype result of amniotic fluid cells was 47,XN,+mar[24]/46,XN[76]. The peripheral blood karyotypes of both parents showed no apparent abnormalities. The pregnancy outcome of the fetus was normal.</p><p><strong>Conclusions: </strong>The phenotype and pathogenicity of CNV mosaicism are difficult to determine. During genetic counseling, a comprehensive risk assessment should be conducted by integrating test results and literature evidence. The decision on the pregnancy outcome must be based on the principle of informed consent and respect the wishes of both parents.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 9","pages":"2046-2049"},"PeriodicalIF":0.7,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963179","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}

{"title":"Epidemiologic and Seasonal Trends of Four Endemic Human Coronaviruses in Korea from 2018 to 2024.","authors":"Jinyeong Kim, Dong-Hyun Lee, Eunhee Han","doi":"10.7754/Clin.Lab.2025.250946","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250946","url":null,"abstract":"<p><strong>Background: </strong>Human coronaviruses (HCoVs) 229E, NL63, OC43, and HKU1 are globally endemic causes of respiratory tract infections. However, long-term epidemiological data from Korea, particularly after the emergence of COVID-19, remain limited.</p><p><strong>Methods: </strong>We retrospectively analyzed multiplex real-time reverse transcription PCR (RT-PCR) results for respiratory viruses obtained at a single university hospital between November 2018 and April 2024. The epidemiological patterns of the four common HCoVs were evaluated according to age group and seasonality.</p><p><strong>Results: </strong>Among 6,914 respiratory samples, HCoVs were detected in 184 patients (101 adults and 83 children). HCoV-OC43 was the most frequently identified subtype in both adults (34.7%) and children (49.4%). Pediatric cases peaked in November-December, whereas adult cases peaked in December-January. A resurgence of HCoV circulation was observed in November 2023, following the COVID-19 pandemic.</p><p><strong>Conclusions: </strong>Endemic HCoVs continue to circulate in Korea with distinct seasonal and age-related patterns. The reemergence of HCoVs after the COVID-19 pandemic highlights the need for accurate nationwide surveillance and analysis in relation to endemic SARS-CoV-2 to guide respiratory disease management.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"72 9","pages":"2050-2053"},"PeriodicalIF":0.7,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963215","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}