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Congenital hypofibrinogenemia with bleeding risk: mutations in the FGA, FGB, and FGG genes. 先天性低纤维蛋白原血症伴出血风险:FGA、FGB和FGG基因突变
IF 1 Pub Date : 2026-01-07 DOI: 10.1093/labmed/lmaf042
Yangyang Wu, Kaili Qin, Liqun Xiang, Meiling Luo, Min Chen, Xinyan Chen, Jie Yan, Weijie Zhou, Faquan Lin, Lin Liao

Introduction: Congenital hypofibrinogenemia is a genetic disorder caused by defects in the fibrinogen gene. We identified a case of congenital hypofibrinogenemia with mutations in the FGA, FGB, and FGG genes associated with bleeding risk and conducted experimental studies to explore the condition's pathogenesis.

Methods: To investigate the bleeding risk in the proband, we performed coagulation screening and genetic analysis, supplemented by sodium dodecyl sulfate polyacrylamide gel electrophoresis, electron microscopy, sequence conservation analysis, and thromboelastography to elucidate the pathogenic mechanism.

Results: Fibrinogen levels in the proband's plasma were measured by 3 methods: 0.81 g/L (Clauss assay), 0.95 g/L (prothrombin time derived), and 0.87 g/L (enzyme-linked immunosorbent assay). The proband and her father had c.37T > C (p.Tyr13His) in the FGG gene; c.959-16_959-13delTTTG deletion mutation, c.567C > T (p.Ser189=), c.1125C > T (p.Tyr375=), c.1433G > A (p.Arg478Lys), and c.1433G > A (p.Arg478Lys) in the FGB gene; and c.991A > G (p.Thr331Ala) in the FGA gene. Scanning electron microscope analysis showed that the proband's fibrin fibers were fine, with a loose spatial structure and increased pore size.

Discussion: The c.959-16_959-13delTTTG deletion is the main cause of congenital hypofibrinogenemia in this family. The γTyr13His heterozygous mutation may have a minor impact on the structure and function of the fibrinogen molecule. The Bβ(Ser189=, Tyr375=, Arg478Lys) and AαThr331Ala mutations may have a certain impact on the proband's clinical phenotype.

简介:先天性低纤维蛋白原血症是一种由纤维蛋白原基因缺陷引起的遗传性疾病。我们发现了一例先天性低纤维蛋白原血症,FGA、FGB和FGG基因突变与出血风险相关,并进行了实验研究以探索其发病机制。方法:对先证患者进行凝血筛查和遗传分析,辅以十二烷基硫酸钠聚丙烯酰胺凝胶电泳、电镜、序列保守分析和血栓弹性成像,探讨其发病机制。结果:先证者血浆纤维蛋白原水平采用3种方法测定:0.81 g/L (Clauss法)、0.95 g/L(凝血酶原时间衍生法)、0.87 g/L(酶联免疫吸附法)。先证者及其父亲在FGG基因中有C . 37t > C (p.Tyr13His);FGB基因c.959-16_959-13delTTTG缺失突变,c.567C > T (p.Ser189=), c.1125C > T (p.Tyr375=), c.1433G > A (p.Arg478Lys), c.1433G > A (p.Arg478Lys);FGA基因中的c.991A > G (p.Thr331Ala)。扫描电镜分析显示,先证者的纤维蛋白纤维较细,空间结构疏松,孔径增大。讨论:c.959-16_959-13delTTTG缺失是该家族先天性低纤维蛋白原血症的主要原因。γTyr13His杂合突变可能对纤维蛋白原分子的结构和功能有轻微的影响。Bβ(Ser189=, Tyr375=, Arg478Lys)和a α thr331ala突变可能对先证者的临床表型有一定影响。
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引用次数: 0
Evaluation of serial creatinine measurements with reference change value in gentamicin-treated patients: a new tool in nephrology practice? 庆大霉素治疗患者系列肌酐测量参考变化值的评价:肾病学实践的新工具?
IF 1 Pub Date : 2026-01-07 DOI: 10.1093/labmed/lmaf076
Demet Yavuz, Havva Yasemin Cinpolat, Öznur Kal, Mukadder Erdem, Sevil Alkan, Mehmet Derya Demirağ, Nihal Aydemir

Introduction: In this study, we aimed to evaluate serum creatinine levels with reference change value in patients receiving treatment with gentamicin.

Methods: Serum creatinine levels of patients who received gentamicin were recorded retrospectively before treatment and on the 7th and 14th days after treatment. Analytical coefficient of variation (s/x̄) × 100 (CV) and reference change value were calculated (z = 1.64,; P < .05). The percentage increase in serum creatinine level at day 7 and day 14 compared with before treatment was considered statistically significant if it exceeded the reference change value. Nephrotoxicity was assessed by comparing changes in serum creatinine levels using reference change value and Kidney Disease: Improving Global Outcomes (KDIGO) criteria.

Results: A total of 55 patients with a mean (SD) age of 53 (17) years were included in the study. The reference change value for serum creatinine was calculated as11.9%. The rate of increase in serum creatinine levels showed a statistically significant increase in 45.5% and 63.6% of patients on days 7 and 14, respectively, compared with before treatment, while the increase was statistically significant in 8.2% and 25.5% of patients, respectively, when evaluated by KDIGO criteria.

Discussion: We believe that it would be in the patient's best interest for clinicians to include reference change value in clinical nephrology practice alongside known acute kidney failure criteria.

在本研究中,我们旨在评估庆大霉素治疗患者血清肌酐水平的参考变化值。方法:回顾性记录庆大霉素治疗前及治疗后第7、14天患者血清肌酐水平。计算分析变异系数(s/x′)× 100 (CV)和参考变化值(z = 1.64,; P)结果:共纳入55例患者,平均(SD)年龄53(17)岁。血清肌酐参考变化值计算为11.9%。血清肌酐水平升高率在治疗第7天和第14天分别有45.5%和63.6%的患者较治疗前升高,而KDIGO标准评估时,分别有8.2%和25.5%的患者升高有统计学意义。讨论:我们认为,临床医生在临床肾脏病学实践中将参考改变值与已知的急性肾衰竭标准一起纳入患者的最佳利益。
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引用次数: 0
Correlation analysis of serum TIP30 mRNA expression with recompensation and short-term prognosis in the patients with hepatitis B virus-derived decompensated liver cirrhosis. 乙型肝炎病毒源性失代偿性肝硬化患者血清TIP30 mRNA表达与再代偿及短期预后的相关性分析
IF 1 Pub Date : 2026-01-07 DOI: 10.1093/labmed/lmaf083
Kai Deng, Mei Juan Wang, Yong Cun Liu, Ming Wang

Introduction: To explore the correlation between the expression of Tat interacting protein-30 (TIP30) mRNA in serum of patients with hepatitis B virus (HBV) -derived decompensated liver cirrhosis and recompensation as well as short-term prognosis.

Methods: The clinical data of 109 patients with the HBV-related decompensated cirrhosis who were hospitalized in the First Affiliated Hospital of Xi'an Jiaotong University and the First People's Hospital of Xianyang City from January 2018 to December 2023 were collected and analyzed, retrospectively, including 51 patients who occured recompensation and 58 patients who occured non-recompensation. Serum TIP30 mRNA expression was detected by Real-time polymerase reaction (RT-PCR).

Results: An increase in TIP30 mRNA expression after treatment was observed in the recompensation group compared to non-recompensation group (P < 0.001). Our analysis showed that serum TIP30 mRNA expression in the decompensated liver cirrhosis patients was negatively correlated with Child Pugh score, portal vein diameter, spleen length, and the morbidity in ascite, hepatic encephalopathy, hepatorenal syndrome, spontaneous peritonitis, pulmonary infection, and gastrointestinal bleeding (all P < 0.05).

Conclusion: Detecting serum expression of TIP30 mRNA can provide a basis for evaluating the recompensation and short-term prognosis of decompensated liver cirrhosis. AS shown in .

前言:探讨乙型肝炎病毒(HBV)源性失代偿性肝硬化患者血清中Tat相互作用蛋白30 (TIP30) mRNA的表达与再代偿及短期预后的关系。方法:回顾性收集2018年1月至2023年12月在西安交通大学第一附属医院和咸阳市第一人民医院住院的109例hbv相关失代偿性肝硬化患者的临床资料进行分析,其中51例发生再代偿,58例发生无代偿。采用实时聚合酶反应(RT-PCR)检测血清TIP30 mRNA的表达。结果:与非代偿组相比,代偿组治疗后TIP30 mRNA表达升高(P)。结论:检测血清TIP30 mRNA表达可为评价失代偿肝硬化患者的代偿及短期预后提供依据。如图所示。
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引用次数: 0
A falsely low lactate: discrepancies in lactate measurement between blood gas and core laboratory instruments due to β-hydroxybutyrate interference-a case report. 乳酸虚低:由于β-羟基丁酸盐干扰,血气和核心实验室仪器之间的乳酸测量值存在差异- 1例报告。
IF 1 Pub Date : 2026-01-07 DOI: 10.1093/labmed/lmaf061
Nadia M Alqurini, Bhawana Adhikari, Hoda A Hagrass

Introduction: Laboratory tests play a crucial role in diagnosing and managing illness. Accurate interpretation, which includes evaluating false-negative and false-positive results, is essential for guiding appropriate clinical interventions and ensuring patient safety.

Methods: We present a case involving clinically significant discrepancies in lactate measurements in a patient with acute myeloid leukemia and diabetic ketoacidosis.

Results: These discrepancies were caused by interference from elevated levels of ketone bodies-specifically, β-hydroxybutyrate-which may have delayed recognition of the severity of the patient's condition.

Discussion: Dilution and spike experiments suggested potential interferences in core laboratory instruments using the Trinder reaction, leading to inaccurate lactate readings.

实验室检测在诊断和控制疾病方面起着至关重要的作用。准确的解释,包括评估假阴性和假阳性结果,对于指导适当的临床干预和确保患者安全至关重要。方法:我们报告了一例急性髓性白血病和糖尿病酮症酸中毒患者在乳酸测量方面存在临床显著差异的病例。结果:这些差异是由酮体(特别是β-羟基丁酸)水平升高的干扰引起的,这可能延迟了对患者病情严重程度的认识。讨论:稀释和尖峰实验表明,使用Trinder反应的核心实验室仪器存在潜在干扰,导致乳酸读数不准确。
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引用次数: 0
Autoimmune encephalitis and hepatitis after SARS-CoV-2: a case of multiple autoantibodies. SARS-CoV-2后自身免疫性脑炎和肝炎:多自身抗体1例
IF 1 Pub Date : 2026-01-07 DOI: 10.1093/labmed/lmaf058
Alexandros Giannakis, Ilias Tsiakas, Ioanna Saralioti, Spiridon Konitsiotis

Introduction: Autoimmune encephalitis can occur in isolation or as a postinfectious complication, such as following infection with SARS-CoV-2.

Methods: A patient presented with neuropsychiatric symptoms 3 weeks after SARS‑CoV‑2 infection, including dysphagia, psychosis, and partial-onset seizures. The patient tested positive for anti-N-methyl-d-aspartate receptor antibodies in cerebrospinal fluid as well as anti-γ-aminobutyric acid type A receptor and anti-glutamic acid decarboxylase antibodies in the serum. Findings from brain magnetic resonance imaging and electroencephalography were unremarkable. Cerebrospinal fluid analysis revealed 3 white blood cells/μL, slightly elevated total protein levels (3.16 mmol/L [reference range, 0.83-2.50 mmol/L]), normal blood glucose levels (3.44 mmol/L [reference range, 2.22-3.88 mmol/L]), and negative results on Gram stain and cytologic examination. Nevertheless, a diagnosis of autoimmune encephalitis was established. After 3 months, elevated liver enzyme levels and positive anti-liver-kidney microsomal type 1, anti-smooth muscle, and anti-α-actinin antibodies led to liver biopsy and diagnosis of autoimmune hepatitis.

Results: The patient was treated with repeated pulses of intravenous methylprednisolone, followed by rituximab administered every 6 months for 2 years, resulting in complete recovery.

Discussion: This unprecedented case raises a high index of suspicion for autoimmune states in patients presenting with compatible clinical features, even when typical laboratory findings are unremarkable.

自身免疫性脑炎可单独发生,也可作为感染后并发症发生,如感染SARS-CoV-2后。方法:1例患者在SARS‑CoV‑2感染3周后出现神经精神症状,包括吞咽困难、精神失常和部分发作性癫痫。患者脑脊液抗n -甲基-d-天冬氨酸受体抗体阳性,血清抗γ-氨基丁酸A型受体抗体和抗谷氨酸脱羧酶抗体阳性。脑磁共振及脑电图结果无明显差异。脑脊液分析显示白细胞3个/μL,总蛋白水平轻度升高(3.16 mmol/L[参考范围,0.83-2.50 mmol/L]),血糖水平正常(3.44 mmol/L[参考范围,2.22-3.88 mmol/L]),革兰氏染色及细胞学检查均为阴性。然而,诊断为自身免疫性脑炎。3个月后,肝酶水平升高,抗肝肾微粒体1型抗体、抗平滑肌抗体和抗α-肌动蛋白抗体阳性,导致肝活检和自身免疫性肝炎的诊断。结果:患者经反复静脉注射甲基强的松龙,随后每6个月给予利妥昔单抗治疗2年,完全康复。讨论:这一前所未有的病例引起了对具有相容临床特征的患者自身免疫状态的高度怀疑,即使典型的实验室结果并不显著。
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引用次数: 0
Assessment of osteopontin and vascular endothelial growth factor for diagnostic performance of Egyptians hepatocellular carcinoma. 评估骨桥蛋白和血管内皮生长因子对埃及人肝细胞癌的诊断性能。
IF 1 Pub Date : 2026-01-07 DOI: 10.1093/labmed/lmaf075
Amina A Abd El Fattah, Magdy M Youssef, Mohamed Abdel-Wahab, Mona S Gouida, Hoda M El-Emshaty

Introduction: This study aimed to investigate the utility of vascular endothelial growth factor (VEGF) and osteopontin (OPN) as predictive biomarkers in hepatocellular carcinoma patients (HCC) and cirrhosis and identifying its potential diagnosis of HCC.

Methods: We used enzyme-linked immunosorbent assay to estimate serum levels of OPN and VEGF in 82 Egyptian patients hospitalized for liver transplantation at our Gastrointestinal Surgery Center and 40 nondisease control (NDC) individuals.

Results: Overall, OPN, VEGF, and ɑ-fetoprotein (AFP) higher levels were statistically significantly higher in patients with HCC than in patients with cirrhosis and in the NDC group as well as between patients with cirrhosis and in the NDC group (P < 0.001); OPN and VEGF exhibited statistically significant predictive ability for tumor progression. The diagnostic performance of OPN, VEGF, and AFP using receiver operating characteristic curve analysis showed that OPN demonstrated diagnostic accuracy (85.36%), with an area under the curve of 0.927, supporting its clinical applicability; VEGF showed moderate diagnostic accuracy (65.90%), with an area under the curve of 0.715.

Discussion: Overall, OPN and VEGF displayed substantial predictive ability for tumor progression and can be employed as early markers of the onset of HCC. Osteopontin can effectively distinguish between HCC and cirrhosis and can be used in conjunction with AFP to provide the most accurate diagnosis.

本研究旨在探讨血管内皮生长因子(VEGF)和骨桥蛋白(OPN)作为肝细胞癌(HCC)和肝硬化患者的预测性生物标志物的应用,并确定其对HCC的潜在诊断。方法:我们使用酶联免疫吸附试验来评估82名在胃肠外科中心住院接受肝移植的埃及患者和40名非疾病对照(NDC)个体的血清OPN和VEGF水平。结果:总体而言,HCC患者的OPN、VEGF和甲胎蛋白(AFP)水平高于肝硬化组和NDC组,也高于肝硬化组和NDC组(P讨论:总体而言,OPN和VEGF对肿瘤进展具有显著的预测能力,可作为HCC发病的早期标志。骨桥蛋白可有效区分HCC和肝硬化,与AFP联合使用可提供最准确的诊断。
{"title":"Assessment of osteopontin and vascular endothelial growth factor for diagnostic performance of Egyptians hepatocellular carcinoma.","authors":"Amina A Abd El Fattah, Magdy M Youssef, Mohamed Abdel-Wahab, Mona S Gouida, Hoda M El-Emshaty","doi":"10.1093/labmed/lmaf075","DOIUrl":"10.1093/labmed/lmaf075","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to investigate the utility of vascular endothelial growth factor (VEGF) and osteopontin (OPN) as predictive biomarkers in hepatocellular carcinoma patients (HCC) and cirrhosis and identifying its potential diagnosis of HCC.</p><p><strong>Methods: </strong>We used enzyme-linked immunosorbent assay to estimate serum levels of OPN and VEGF in 82 Egyptian patients hospitalized for liver transplantation at our Gastrointestinal Surgery Center and 40 nondisease control (NDC) individuals.</p><p><strong>Results: </strong>Overall, OPN, VEGF, and ɑ-fetoprotein (AFP) higher levels were statistically significantly higher in patients with HCC than in patients with cirrhosis and in the NDC group as well as between patients with cirrhosis and in the NDC group (P < 0.001); OPN and VEGF exhibited statistically significant predictive ability for tumor progression. The diagnostic performance of OPN, VEGF, and AFP using receiver operating characteristic curve analysis showed that OPN demonstrated diagnostic accuracy (85.36%), with an area under the curve of 0.927, supporting its clinical applicability; VEGF showed moderate diagnostic accuracy (65.90%), with an area under the curve of 0.715.</p><p><strong>Discussion: </strong>Overall, OPN and VEGF displayed substantial predictive ability for tumor progression and can be employed as early markers of the onset of HCC. Osteopontin can effectively distinguish between HCC and cirrhosis and can be used in conjunction with AFP to provide the most accurate diagnosis.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145524925","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
False positives in transfusion-transmitted infection proficiency testing due to matrix effects in external quality assessment samples: lessons for clinical laboratories. 由于外部质量评估样本基质效应导致的输血传播感染熟练度检测假阳性:给临床实验室的教训。
IF 1 Pub Date : 2026-01-07 DOI: 10.1093/labmed/lmaf090
Rasika Dhawan Setia, Mitu Dogra, Gajendra Gupta, Sadhana Mangwana, Deepti Sachan, Amena Ebadur Rahman, Anil Handoo

Introduction: Proficiency testing, a cornerstone of external quality assessment, benchmarks laboratory performance and detects systematic errors. Although extremely rare, matrix-related interference in proficiency testing samples can produce misleading results across platforms, highlighting the importance of sample commutability.

Methods: During a proficiency testing cycle for transfusion-transmitted infections, a blood center observed uniform low hepatitis B surface antigen reactivity in 5 blinded samples on the Alinity i chemiluminescent microparticle immunoassay (CMIA) platform (Abbott). This consistent yet unusual reactivity prompted further investigation. Cross-validation using the Roche Elecsys-e411 analyzer, Abbott ARCHITECT i1000SR analyzer, and the bioMérieux VIDAS enzyme-linked fluorescent assay (ELFA) showed similar results, whereas the QuidelOrtho VITROS 3600 chemiluminescence immunoassay reported 4 nonreactive results and 1 invalid result. Reflex testing on rapid immunochromatographic tests, nucleic acid testing (NAT), and neutralization assays was performed. A reflex testing protocol that integrated orthogonal methodologies, root cause analysis, and corrective maintenance were employed to systematically investigate discordance.

Results: The CMIA consistently showed low reactivity; the ELFA was borderline; and the VITROS 3600, rapid tests, and NAT were nonreactive. Neutralization assays confirmed nonspecific signals. Instrument issues were excluded. The external quality assessment provider attributed these findings to matrix interference, likely from stabilizers. Performance assessment used a peer group methodology.

Discussion: Matrix interference in proficiency testing, although rare, can compromise interpretation. Reflex testing, structured root cause analysis, robust standard operating procedures, staff training, and attention to sample commutability are essential to strengthen quality assurance.

简介:能力测试是外部质量评估的基石,对实验室的表现进行基准测试,并检测系统错误。虽然非常罕见,但熟练度测试样本中与矩阵相关的干扰可能会在不同平台上产生误导性的结果,这突出了样本可交换性的重要性。方法:在输血传播感染的能力测试周期中,血液中心在Alinity i化学发光微粒免疫测定(CMIA)平台(雅培)上观察到5个盲法样本的乙型肝炎表面抗原反应性一致较低。这种持续而不寻常的反应促使了进一步的调查。使用罗氏Elecsys-e411分析仪、雅培ARCHITECT i1000SR分析仪和biomrieux VIDAS酶联荧光法(ELFA)进行交叉验证,结果相似,而QuidelOrtho VITROS 3600化学发光免疫分析法报告了4个无反应结果和1个无效结果。对快速免疫层析试验、核酸试验(NAT)和中和试验进行反射试验。反射测试方案集成了正交法、根本原因分析和纠正维护,用于系统地调查不一致。结果:CMIA持续呈现低反应性;ELFA处于边缘;VITROS 3600,快速测试和NAT无反应。中和试验证实了非特异性信号。排除了仪器问题。外部质量评估提供商将这些发现归因于基质干扰,可能来自稳定剂。绩效评估采用同侪小组方法。讨论:熟练程度测试中的矩阵干扰,虽然罕见,但会损害解释。反射测试、结构化的根本原因分析、健全的标准操作程序、员工培训和对样品可交换性的关注是加强质量保证的必要条件。
{"title":"False positives in transfusion-transmitted infection proficiency testing due to matrix effects in external quality assessment samples: lessons for clinical laboratories.","authors":"Rasika Dhawan Setia, Mitu Dogra, Gajendra Gupta, Sadhana Mangwana, Deepti Sachan, Amena Ebadur Rahman, Anil Handoo","doi":"10.1093/labmed/lmaf090","DOIUrl":"https://doi.org/10.1093/labmed/lmaf090","url":null,"abstract":"<p><strong>Introduction: </strong>Proficiency testing, a cornerstone of external quality assessment, benchmarks laboratory performance and detects systematic errors. Although extremely rare, matrix-related interference in proficiency testing samples can produce misleading results across platforms, highlighting the importance of sample commutability.</p><p><strong>Methods: </strong>During a proficiency testing cycle for transfusion-transmitted infections, a blood center observed uniform low hepatitis B surface antigen reactivity in 5 blinded samples on the Alinity i chemiluminescent microparticle immunoassay (CMIA) platform (Abbott). This consistent yet unusual reactivity prompted further investigation. Cross-validation using the Roche Elecsys-e411 analyzer, Abbott ARCHITECT i1000SR analyzer, and the bioMérieux VIDAS enzyme-linked fluorescent assay (ELFA) showed similar results, whereas the QuidelOrtho VITROS 3600 chemiluminescence immunoassay reported 4 nonreactive results and 1 invalid result. Reflex testing on rapid immunochromatographic tests, nucleic acid testing (NAT), and neutralization assays was performed. A reflex testing protocol that integrated orthogonal methodologies, root cause analysis, and corrective maintenance were employed to systematically investigate discordance.</p><p><strong>Results: </strong>The CMIA consistently showed low reactivity; the ELFA was borderline; and the VITROS 3600, rapid tests, and NAT were nonreactive. Neutralization assays confirmed nonspecific signals. Instrument issues were excluded. The external quality assessment provider attributed these findings to matrix interference, likely from stabilizers. Performance assessment used a peer group methodology.</p><p><strong>Discussion: </strong>Matrix interference in proficiency testing, although rare, can compromise interpretation. Reflex testing, structured root cause analysis, robust standard operating procedures, staff training, and attention to sample commutability are essential to strengthen quality assurance.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145949468","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
sTREM-1 as a biomarker for sepsis diagnosis and prognosis following abdominal surgery. sTREM-1作为腹部手术败血症诊断和预后的生物标志物。
IF 1 Pub Date : 2026-01-07 DOI: 10.1093/labmed/lmaf074
Patricia Bautista-Carbajal, Juan Pedro Chávez-Pérez, Miguel Leonardo García-León, José Arturo Cabrera-Sánchez, Neyla Baltazar-López, Felipe Rafael Zaldivar-Ramirez, Rosa María Wong-Chew

Introduction: Sepsis represents a critical response to infection; it is characterized by systemic inflammation, shock, and potential organ failure. Soluble triggering receptor expressed on myeloid cells 1 (sTREM-1) has been identified as a crucial marker in sepsis, connecting the activation of innate immunity to systemic inflammation.

Methods: This prospective nested case control study was carried out in the intensive care unit and surgery department from March 2018 to June 2019. Adults undergoing abdominal surgery, with and without sepsis, were included in the study, and sTREM-1 and cytokine levels were measured.

Results: A total of 120 patients were included in the study, comprising 31 noninfected individuals, 37 with sepsis, and 52 with septic shock. sTREM-1 levels were statistically significantly elevated in patients with sepsis and septic shock compared with noninfected individuals (P < .001). Receiver operating characteristic curve analysis revealed an area under the curve of 0.722 for sTREM-1 in the prediction of septic shock.

Discussion: Elevated sTREM-1 levels are associated with the severity of sepsis and may function as a prognostic biomarker. Additional research is required to confirm these findings and investigate therapeutic interventions aimed at the sTREM-1 pathway.

败血症是对感染的关键反应;它的特点是全身炎症、休克和潜在的器官衰竭。髓样细胞表达的可溶性触发受体1 (sTREM-1)已被确定为脓毒症的关键标志物,将先天免疫的激活与全身炎症联系起来。方法:于2018年3月至2019年6月在重症监护病房和外科进行前瞻性巢式病例对照研究。接受腹部手术的成年人,不论有无败血症,都被纳入研究,并测量了sTREM-1和细胞因子的水平。结果:共纳入120例患者,其中31例未感染,37例脓毒症,52例感染性休克。与未感染的个体相比,脓毒症和脓毒性休克患者的sTREM-1水平在统计学上显著升高(P讨论:sTREM-1水平升高与脓毒症的严重程度相关,可能作为预后的生物标志物。需要进一步的研究来证实这些发现,并研究针对sTREM-1通路的治疗干预措施。
{"title":"sTREM-1 as a biomarker for sepsis diagnosis and prognosis following abdominal surgery.","authors":"Patricia Bautista-Carbajal, Juan Pedro Chávez-Pérez, Miguel Leonardo García-León, José Arturo Cabrera-Sánchez, Neyla Baltazar-López, Felipe Rafael Zaldivar-Ramirez, Rosa María Wong-Chew","doi":"10.1093/labmed/lmaf074","DOIUrl":"10.1093/labmed/lmaf074","url":null,"abstract":"<p><strong>Introduction: </strong>Sepsis represents a critical response to infection; it is characterized by systemic inflammation, shock, and potential organ failure. Soluble triggering receptor expressed on myeloid cells 1 (sTREM-1) has been identified as a crucial marker in sepsis, connecting the activation of innate immunity to systemic inflammation.</p><p><strong>Methods: </strong>This prospective nested case control study was carried out in the intensive care unit and surgery department from March 2018 to June 2019. Adults undergoing abdominal surgery, with and without sepsis, were included in the study, and sTREM-1 and cytokine levels were measured.</p><p><strong>Results: </strong>A total of 120 patients were included in the study, comprising 31 noninfected individuals, 37 with sepsis, and 52 with septic shock. sTREM-1 levels were statistically significantly elevated in patients with sepsis and septic shock compared with noninfected individuals (P < .001). Receiver operating characteristic curve analysis revealed an area under the curve of 0.722 for sTREM-1 in the prediction of septic shock.</p><p><strong>Discussion: </strong>Elevated sTREM-1 levels are associated with the severity of sepsis and may function as a prognostic biomarker. Additional research is required to confirm these findings and investigate therapeutic interventions aimed at the sTREM-1 pathway.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12831532/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145575203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unveiling the hidden: diagnosing isolated myeloid sarcoma through ascitic fluid analysis. 揭露隐藏:通过腹水分析诊断孤立性髓系肉瘤。
IF 1 Pub Date : 2026-01-07 DOI: 10.1093/labmed/lmaf089
Zhengyu Zhou, Zhanyi Yue, Landi Zhang, Kang Wu

Introduction: Isolated myeloid sarcoma, defined as an extramedullary manifestation of acute myeloid leukemia with essentially normal bone marrow, is frequently misdiagnosed as other disorders due to its nonspecific presentation.

Methods: A 31-year-old woman presented at Shanghai Changhai hospital with abdominal symptoms without obvious inducement.

Results: Computed tomography scans revealed circumferential wall thickening of the terminal ileum with luminal narrowing, accompanied by moderate ascites. Primitive myeloid cells were identified in ascitic fluid through cytologic analysis. Flow cytometric analysis of the ascitic fluid showed an immunophenotypic profile consistent with myeloid blasts. Molecular analysis of the ascitic fluid identified the presence of CBFβ::MYH11 fusion genes. The bone marrow aspiration, biopsy, and fluorescence in situ hybridization test revealed normocellular marrow without abnormalities. The final diagnosis was isolated myeloid sarcoma.

Discussion: Cytologic, flow cytometric, and molecular analyses of ascitic fluid can provide critical diagnostic evidence for myeloid sarcoma in cases where abdominal effusion is associated with myeloid sarcoma involvement.

孤立性髓系肉瘤,定义为骨髓基本正常的急性髓系白血病的髓外表现,由于其非特异性表现,常被误诊为其他疾病。方法:一名31岁的妇女在上海长海医院就诊,腹部症状无明显诱因。结果:计算机断层扫描显示回肠末端周壁增厚伴管腔狭窄,伴中度腹水。通过细胞学分析在腹水中鉴定出原始髓系细胞。腹水的流式细胞分析显示免疫表型与髓细胞一致。腹水分子分析证实存在CBFβ::MYH11融合基因。骨髓穿刺、活检和荧光原位杂交试验显示骨髓细胞正常,无异常。最终诊断为孤立性髓系肉瘤。讨论:腹水的细胞学、流式细胞术和分子分析可以为髓系肉瘤累及腹腔积液的病例提供关键的诊断证据。
{"title":"Unveiling the hidden: diagnosing isolated myeloid sarcoma through ascitic fluid analysis.","authors":"Zhengyu Zhou, Zhanyi Yue, Landi Zhang, Kang Wu","doi":"10.1093/labmed/lmaf089","DOIUrl":"https://doi.org/10.1093/labmed/lmaf089","url":null,"abstract":"<p><strong>Introduction: </strong>Isolated myeloid sarcoma, defined as an extramedullary manifestation of acute myeloid leukemia with essentially normal bone marrow, is frequently misdiagnosed as other disorders due to its nonspecific presentation.</p><p><strong>Methods: </strong>A 31-year-old woman presented at Shanghai Changhai hospital with abdominal symptoms without obvious inducement.</p><p><strong>Results: </strong>Computed tomography scans revealed circumferential wall thickening of the terminal ileum with luminal narrowing, accompanied by moderate ascites. Primitive myeloid cells were identified in ascitic fluid through cytologic analysis. Flow cytometric analysis of the ascitic fluid showed an immunophenotypic profile consistent with myeloid blasts. Molecular analysis of the ascitic fluid identified the presence of CBFβ::MYH11 fusion genes. The bone marrow aspiration, biopsy, and fluorescence in situ hybridization test revealed normocellular marrow without abnormalities. The final diagnosis was isolated myeloid sarcoma.</p><p><strong>Discussion: </strong>Cytologic, flow cytometric, and molecular analyses of ascitic fluid can provide critical diagnostic evidence for myeloid sarcoma in cases where abdominal effusion is associated with myeloid sarcoma involvement.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146069576","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
Validation of serum hypersensitive thyroglobulin assay in alternative fine needle aspiration matrix. 选择性细针抽吸基质中血清超敏甲状腺球蛋白测定的验证。
IF 1 Pub Date : 2026-01-07 DOI: 10.1093/labmed/lmaf087
Patrizia Agretti, Donatella Taddei, Chiara Nencetti, Lea Bianchi, Maria Rita Sessa

Introduction: Thyroglobulin levels in washout fluids from fine needle aspiration (FNA) biopsies of suspicious thyroid lesions is a well-established tool in diagnosis and follow-up of both papillary and follicular thyroid cancer. Despite the importance of this procedure, there is no standardization of the analytical process. We sought to validate an ultrasensitive thyroglobulin immunoassay not formulated for FNA washout fluids and to assess thyroglobulin stability based on matrix, storage temperature, and elapsed time before analysis.

Methods: Repeatability, limit of blank, limit of detection, and limit of quantification of thyroglobulin in 3 different matrices (kit diluent, serum free, and saline) were determined. Each sample was diluted and assayed immediately or after 14 or 21 days at ‒20 °C.

Results: Low coefficients of variation (s/x¯) × 100 were obtained, while limit-of-detection values for kit diluent and serum-free matrices resulted in values comparable to those reported for serum. Similar values of thyroglobulin were obtained in whole samples tested immediately or after 14 or 21 days of storage.

Conclusions: Analytical validation of the ultrasensitive immunoassay for FNA samples was obtained for 3 matrices; matrix features and sample storage at ‒20 °C do not affect the reliability of thyroglobulin measurements. Use of a protein matrix is recommended for possible presence of samples with low analyte values.

简介:可疑甲状腺病变细针穿刺(FNA)活检冲洗液中甲状腺球蛋白水平是诊断和随访乳头状和滤泡性甲状腺癌的一种成熟工具。尽管这一程序很重要,但分析过程没有标准化。我们试图验证一种未为FNA冲洗液配制的超灵敏甲状腺球蛋白免疫分析法,并根据基质、储存温度和分析前经过的时间评估甲状腺球蛋白的稳定性。方法:测定3种不同基质(试剂盒稀释液、无血清和生理盐水)中甲状腺球蛋白的重复性、空白限、检测限和定量限。每个样品稀释后立即或在-20°C条件下14或21天后进行检测。结果:获得了低变异系数(s/x¯)× 100,而试剂盒稀释液和无血清基质的检测限值与血清的报告值相当。在立即或储存14天或21天后的整个样品中,甲状腺球蛋白的测定值相似。结论:对3种基质的FNA样品进行了超灵敏免疫分析验证;基质特征和样品在-20°C下的储存不影响甲状腺球蛋白测量的可靠性。对于可能存在低分析值的样品,建议使用蛋白质基质。
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引用次数: 0
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