Annals of clinical and laboratory science最新文献

{"title":"Leukemic Presentation of CD5-Positive Diffuse Large B-Cell Lymphoma: A Case Report and Literature Review.","authors":"Takho Kang, Myung-Hyun Nam, Yunjung Cho, Yoon Seok Choi, Yeseul Kim, Jiwon Yun","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>CD5-positive diffuse large B-cell lymphoma (CD5+ DLBCL) is a rare and highly aggressive subtype of DLBCL, commonly characterized by extranodal involvement, an activated B-cell/non-germinal center B-cell phenotype, and a poor prognosis. Although CD5+ DLBCL frequently presents at an advanced stage, leukemic presentation-defined by the presence of abundant circulating malignant B-cells in the peripheral blood-is exceedingly rare, with only a limited number of cases reported globally. We herein report, to the best of our knowledge, the first reported case in Korea of relapsed CD5+ DLBCL with leukemic presentation. The patient exhibited a high tumor burden, a double-expressor phenotype, and rapid disease progression despite multiple lines of therapy. This case report highlights the diagnostic and therapeutic challenges in managing CD5+ DLBCL with leukemic presentation and emphasizes the need for further studies.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 4","pages":"596-600"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079517","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":"Intravascular Fasciitis Mimicking Deep Vein Thrombosis with Pulmonary Embolism in May-Thurner Syndrome: First Reported Case with Literature Review.","authors":"Sibel Ak, Jaiyeola Thomas-Ogunniyi, Hidehiro Takei","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Intravascular fasciitis (IVF) is a rare, benign myofibroblastic proliferation involving arteries or veins that can mimic deep vein thrombosis (DVT). We report the first known case of IVF arising in the setting of May-Thurner syndrome (MTS), a congenital venous anomaly. A 15-year-old male presented with leg pain, swelling, and pulmonary embolism. Imaging showed iliofemoral \"thrombosis\" and MTS. Mechanical thrombectomy was performed. Histopathology revealed a spindle cell lesion with myxoid stroma, mitoses, focal necrosis, and organizing thrombi. Immunohistochemistry demonstrated smooth muscle actin positivity and desmin negativity. <i>USP6</i> rearrangement was detected by fluorescence in situ hybridization (FISH), confirming IVF. This case illustrates the clinical and radiologic overlap between IVF and DVT and highlights the importance of histopathologic and molecular evaluation. Unlike prior reports, IVF was successfully managed with an endovascular approach.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 4","pages":"585-589"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079479","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 Novel Frameshift Variant in the hnRNPK Gene Associated with Au-Kline Syndrome Identified During Prenatal Diagnosis: A Case Report.","authors":"Huiying Huang, Baoling Lai, Wei Wu, Huishuang Chen, Lijuan Kan, Tong Ou","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Au-Kline syndrome is a rare disease of major pediatric concern, characterized by intellectual disability, facial deformities, heart defects, and abnormal development of connective tissue and bone. Loss-of-function variants of hnRNPK gene have been proven to be significantly related to Au-Kline syndrome. In this report, a novel hnRNPK gene frameshift variant [NM_031263.4:c.1074dupG:p.M359Dfs*4] was found in a 12-week-old fetus with ultrasound abnormalities including cystic hygroma of the neck, bilateral branchial cysts, and a megabladder. This case report describes a novel frameshift duplication variant of hnRNPK and enriches the mutation database of this gene. Moreover, cystic hygroma of the neck and bilateral branchial cysts on prenatal ultrasound were first discovered in patients with Au-Kline syndrome, which provides a reference for the subsequent prenatal diagnosis of Au-Kline syndrome.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 4","pages":"612-617"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079497","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":"<i>Communication:</i> One-Step <i>HLA-B*59:01</i> Genotyping by Real-Time Duplex Allele-Specific PCR and Melting Curve Analysis.","authors":"Ji Young Huh, Geon Park","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong><i>HLA-B*59:01</i> is associated with severe cutaneous adverse reactions (SCARs) caused by carbonic anhydrase inhibitors, highlighting the need for rapid and reliable genotyping methods. Our previous conventional PCR-based <i>HLA-B*59:01</i> genotyping required post-PCR electrophoresis, increasing labor and hands-on time.</p><p><strong>Methods: </strong>We developed a real-time duplex allele-specific PCR with melting curve analysis for <i>HLA-B*59:01</i> genotyping. Using KOD SYBR qPCR Mix, we differentiated an <i>HLA-B*59:01</i>-specific amplicon (838 bp) and a <i>GNAQ</i> internal control amplicon (912 bp), yielding distinct melting peaks at about 90.3°C and 94.5°C, respectively. Validation was performed on 50 <i>HLA-B*59:01</i>-positive and 100 negative samples with sequence-based typing (SBT) as the reference.</p><p><strong>Results: </strong>The method demonstrated complete concordance with SBT, achieving 100% sensitivity and specificity. The closed-tube approach eliminated the need for electrophoresis, reducing hands-on time.</p><p><strong>Conclusions: </strong>This melting curve analysis provides a reliable and labor-efficient alternative for <i>HLA-B*59:01</i> screening, facilitating clinical implementation for SCAR risk mitigation.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 4","pages":"628-631"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079511","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":"Information About The Association of Clinical Scientists.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 4","pages":"634"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079533","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":"Annals of Clinical and Laboratory Science: Information for Authors.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 4","pages":"632-633"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079520","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":"Predictive Analysis of Coagulation Dysfunction in Elderly Patients Caused by Cefoperazone Sodium-Sulbactam Sodium Use.","authors":"Man-Gui Li, Yuan-Hong Zeng, Cheng-Juan Xie, Qun Zhou, Zhi-Peng Sun, Lu-Wei Yan","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>To retrospectively analyze the influencing factors of coagulation dysfunction caused by intravenous infusion of cefoperazone-sulbactam in elderly patients, and to provide a safety reference for the clinical selection of treatment.</p><p><strong>Methods: </strong>A total of 113 patients aged ≥60 years who were hospitalized in different departments of Qinghai Red Cross Hospital from January 2020 to November 2022 and treated with cefoperazone-sulbactam were selected as the research objects. From multiple aspects such as the patients' gender, ethnicity, medication time, liver and kidney function, blood cell analysis, procalcitonin, and coagulation function, logistic regression analysis combined with receiver operating characteristic (ROC) curve analysis were used to analyze the influencing factors of coagulation disorders caused by cefoperazone-sulbactam in elderly patients.</p><p><strong>Results: </strong>Among the 113 patients treated with cefoperazone sodium-sulbactam sodium, 49 cases (43.4%) had coagulation disorders. Logistic regression analysis showed that age, platelet count, and creatinine level of the patients were the influencing factors of coagulation disorders caused by cefoperazone-sulbactam (<i>P</i><0.05). The older the age and the lower the platelet count and the higher the creatinine level, the greater the risk of coagulation disorders in patients. The area under the ROC curve of the combined predictor was 0.820 (<i>P</i><0.05), which was better than other single factors.</p><p><strong>Conclusion: </strong>When elderly patients are older, with lower platelet counts and higher creatinine levels, the diagnostic efficacy of combining the above indicators is better than that of a single indicator. Therefore, detecting the levels of the above indicators is helpful for the diagnosis and disease evaluation of coagulation dysfunction caused by cefoperazone sodium-sulbactam sodium.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 4","pages":"572-576"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079641","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":"<i>Technical Note:</i> Unexpectedly Low Prevalence of Vitamin D Deficiency, but High Prevalence of Vitamin D Excess in the Older Adult Population at Our Large Academic Hospital: Should 25 Hydroxy Vitamin D Concentration Be Measured in all Elderly Patients?","authors":"Melody Nelson, Amitava Dasgupta","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>Most published reports in medical literature indicate vitamin D deficiency in older adult populations, indicating the need for vitamin D supplementation. However, vitamin D is a fat soluble vitamin and some toxicity may be encountered at a level exceeding 60 ng/mL. Therefore, both vitamin D deficiency and vitamin D excess have clinical consequences.</p><p><strong>Methods: </strong>We reviewed vitamin D status from the medical record of 528 patients aged 65 years and older where 25-hydroxy vitamin D test was ordered.</p><p><strong>Results: </strong>Only 66 patients (12.5%) demonstrated vitamin D deficiency (25-hydroxy vitamin D concentration <20 ng/mL) while 177 patients (33.5%) showed 25-hydroxy vitamin D concentrations above 50 ng/mL, but less than 60 ng/mL. In addition, 285 patients (53.9%) showed 25-hydroxy vitamin D concentrations above the recommended upper limit of 60 ng/mL.</p><p><strong>Conclusions: </strong>In our older adult patient population, we unexpectedly observed that most patients showed elevated 25-hydroxy vitamin D concentrations. Therefore, screening is critical to avoid excess concentration of 25-hydroxy vitamin D in elderly patients.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 4","pages":"625-627"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079462","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":"Discovery of a Novel CHD7 CHARGE Syndrome Variant (c.502C>T) by Prenatal Diagnostic Analysis: A Case Report.","authors":"Kangying Wang, Li Lin, Lixiang Fang, Lina Zeng, Yanping Lin","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the clinical characteristics and genetic variations observed in fetuses with CHARGE syndrome and identify the underlying genetic causes responsible for their multisystem malformations.</p><p><strong>Method: </strong>Amniocentesis was performed on a fetus at 21⁺⁵ weeks of gestation with multiple systemic malformations. Amniotic fluid was collected for karyotype analysis, chromosomal microarray analysis (CMA), and whole-exome sequencing (WES).</p><p><strong>Result: </strong>The fetal karyotype and CMA results were normal; WES analysis revealed a mutation at position 61654493 on chromosome 8, specifically at the 502nd base of the gene coding sequence (c.502C>T; p.Gln168*), located in exon 2. Familial verification confirmed this as a de novo variant, as both parents exhibited wild-type alleles. In accordance with ACMG guidelines, this variant was classified as pathogenic (PVS1_VeryStrong, PS2, PS4, PM2) due to its association with multi-system abnormalities, including congenital heart defects, leading to a diagnosis of CHARGE syndrome.</p><p><strong>Conclusions: </strong>A novel heterozygous variant in the CHD7 gene was identified, expanding the genotype-phenotype spectrum of CHD7 and providing valuable insights for genetic counseling. Mutations in the CHD7 gene may underlie multisystem malformations in fetuses. Concurrent use of CMA and WES is recommended during prenatal diagnosis to elucidate genetic causes and enhance the understanding of CHARGE syndrome.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 4","pages":"601-607"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079503","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":"Baicalin Alleviates Acute Lung Injury by Activating the SIRT3/GPX4 Pathway to Inhibit Lung Epithelial Cell Ferroptosis.","authors":"Tengfei Du, Qijia Feng","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>This study was carried out with the objective of investigating the effect of baicalin (BA) on ferroptosis in acute lung injury (ALI) and elucidating BA's underlying mechanism during this process.</p><p><strong>Methods: </strong>ALI was induced in mice with lipopolysaccharide (LPS), and BA was subsequently administered once daily for seven consecutive days. Lung injury severity was assessed via the lung wet-to-dry weight ratio (W/D ratio) calculation. Enzyme-linked immunosorbent assay (ELISA) was employed for determining inflammatory factor levels in bronchoalveolar lavage fluid (BALF). Histopathological lung tissue variations were examined through hematoxylin-eosin (HE) staining. Myeloperoxidase (MPO) activity was also evaluated in lung tissues. <i>In vitro</i>, ALI was simulated via the exposure of BEAS-2B to LPS for 24 h before BA treatment. The ferroptosis agonist Erastin or Sirtuin 3 (SIRT3) inhibitor 3-TYP were administered to cells for 1 h. CCK-8 assay and flow cytometry were respectively adopted for assessing cell survival and death. Ferroptosis-linked markers, like reactive oxygen species (ROS), malondialdehyde (MDA), reduced glutathione (GSH), as well as ferrous iron (Fe²⁺), were respectively quantified, along with the protein expression of glutathione peroxidase 4 (GPX4). SIRT3 protein expression was analyzed through Western blot (WB).</p><p><strong>Results: </strong>Animal experiments showed that BA notably lowered the lung injury score (LIS), W/D ratio, MPO activity in lung tissue, and IL-1β, IL-6, and TNF-α levels in BALF (<i>P</i><0.05). Moreover, BA lowered ROS, MDA, and Fe²⁺ levels in lung tissue (<i>P</i><0.01), and elevated GSH content and the expression of GPX4 and SIRT3 (<i>P</i><0.01). Similarly, <i>in vitro</i> experiments further confirmed that BA attenuated LPS-induced cellular injury and ferroptosis in BEAS-2B cells. However, Erastin and 3-TYP markedly reduced BA's ability to protect BEAS-2B cells from LPS-induced ferroptosis.</p><p><strong>Conclusion: </strong>BA ameliorates LPS-triggered ALI through ferroptosis suppression in lung epithelial cells via the SIRT3/GPX4 pathway.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 4","pages":"556-566"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079525","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}