Journal of Clinical Laboratory Analysis最新文献_第4页

Effects of Spectral Interfering Substances on Light Transmission Platelet Aggregation Using Infrared Based Aggregometer 光谱干扰物质对红外聚集仪光透射血小板聚集的影响。

IF 2.9 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Journal of Clinical Laboratory Analysis

Pub Date : 2025-12-16 DOI: 10.1002/jcla.70151

Manal Ibrahim-Kosta, Gaïa Zirka, Karine Carriere, Philippe Ohlmann, Marie-Christine Alessi

Aim

This study aims to investigate the nature and extent of hemolyzed, icteric, or lipemic (HIL) interference on platelet aggregation (PA) using the TA-8 V aggregometer (Diagnostica Stago, Asnière sur Seine) equipped with a near infrared light source outside the typical absorbance range of HIL.

Methods

Platelet-Rich-Plasma (PRP) samples were spiked with substances mimicking HIL interference: red blood cell hemolysate (RBCH; 0.3–20 g/L of hemoglobin), bilirubin (15–400 mg/L), and a fat emulsion (Intralipid 20%: 0.5–3 g/L). Maximal intensity (MaxInt) and velocity (Vel) were recorded in the basal state and in response to ADP 5 μmol/L and collagen 2 μg/mL. RBCH solution was treated with apyrase 0.1 U/mL.

Results

Spontaneous aggregation appeared above 0.6 g/L RBCH and significantly intensified with increased RBCH concentrations. The addition of apyrase to RBCH prevented spontaneous aggregation regardless of the RBCH concentration and led to reduced interindividual variability. In response to ADP and collagen, MaxInt and Vel significantly decreased as apyrase-treated RBCH concentrations increased. MaxInt and Vel in response to ADP or collagen were not affected by increasing concentrations of bilirubin. The presence of lipids significantly increases MaxInt in response to ADP or collagen starting at 0.5 g/L.

Conclusion

Our findings suggest that PA testing using the TA-8 V instrument is not significantly impacted by icterus and hyperlipidemia within the specified ranges in healthy individuals. However, it is crucial to reject grossly hemolysed samples (exceeding 0.6 g/L) to avoid interference with ADP released from red blood cells. Further research is needed to confirm these results in patients with platelet dysfunction.

目的：本研究旨在利用在典型吸光度范围外配备近红外光源的ta - 8v聚集仪（diagnostics, Stago, asni sur Seine），探讨溶血、黄疸或脂血症（HIL）干扰血小板聚集（PA）的性质和程度。方法：富血小板血浆（PRP）样品中加入模拟HIL干扰的物质：红细胞溶血物（RBCH； 0.3-20 g/L血红蛋白）、胆红素（15-400 mg/L）和脂肪乳（脂内20%:0.5-3 g/L）。在ADP为5 μmol/L、胶原为2 μmol/ mL时，记录细胞在基础状态下的最大强度（MaxInt）和速度（Vel）。用apyrase 0.1 U/mL处理RBCH溶液。结果：RBCH浓度大于0.6 g/L时出现自发聚集，随RBCH浓度的增加自发聚集明显增强。无论RBCH浓度如何，向RBCH中添加apyrase都能阻止自发聚集，并导致个体间变异性降低。在ADP和胶原的作用下，MaxInt和Vel随着apyase处理的RBCH浓度的增加而显著降低。MaxInt和Vel对ADP或胶原蛋白的反应不受胆红素浓度增加的影响。当ADP或胶原浓度为0.5 g/L时，脂质的存在显著增加了MaxInt。结论：我们的研究结果表明，在规定范围内，健康人使用ta - 8v仪检测PA不受黄疸和高脂血症的显著影响。然而，排斥严重溶血的样品（超过0.6 g/L）是至关重要的，以避免干扰从红细胞释放的ADP。在血小板功能障碍患者中证实这些结果还需要进一步的研究。

{"title":"Effects of Spectral Interfering Substances on Light Transmission Platelet Aggregation Using Infrared Based Aggregometer","authors":"Manal Ibrahim-Kosta, Gaïa Zirka, Karine Carriere, Philippe Ohlmann, Marie-Christine Alessi","doi":"10.1002/jcla.70151","DOIUrl":"10.1002/jcla.70151","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>This study aims to investigate the nature and extent of hemolyzed, icteric, or lipemic (HIL) interference on platelet aggregation (PA) using the TA-8 V aggregometer (Diagnostica Stago, Asnière sur Seine) equipped with a near infrared light source outside the typical absorbance range of HIL.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Platelet-Rich-Plasma (PRP) samples were spiked with substances mimicking HIL interference: red blood cell hemolysate (RBCH; 0.3–20 g/L of hemoglobin), bilirubin (15–400 mg/L), and a fat emulsion (Intralipid 20%: 0.5–3 g/L). Maximal intensity (MaxInt) and velocity (Vel) were recorded in the basal state and in response to ADP 5 μmol/L and collagen 2 μg/mL. RBCH solution was treated with apyrase 0.1 U/mL.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Spontaneous aggregation appeared above 0.6 g/L RBCH and significantly intensified with increased RBCH concentrations. The addition of apyrase to RBCH prevented spontaneous aggregation regardless of the RBCH concentration and led to reduced interindividual variability. In response to ADP and collagen, MaxInt and Vel significantly decreased as apyrase-treated RBCH concentrations increased. MaxInt and Vel in response to ADP or collagen were not affected by increasing concentrations of bilirubin. The presence of lipids significantly increases MaxInt in response to ADP or collagen starting at 0.5 g/L.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our findings suggest that PA testing using the TA-8 V instrument is not significantly impacted by icterus and hyperlipidemia within the specified ranges in healthy individuals. However, it is crucial to reject grossly hemolysed samples (exceeding 0.6 g/L) to avoid interference with ADP released from red blood cells. Further research is needed to confirm these results in patients with platelet dysfunction.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"40 2","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12853392/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145768381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Functional Screening of NDUFAF6 Variants in Knockout Cells and Complementary Computational Analysis 敲除细胞中NDUFAF6变异的功能筛选及互补计算分析。

IF 2.9 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Journal of Clinical Laboratory Analysis

Pub Date : 2025-12-15 DOI: 10.1002/jcla.70147

Feng Jiang, Ayumu Sugiura, Yoshihito Kishita, Kohta Nakamura, Xinju Qi, Yuxin Liu, Kei Murayama, Yasushi Okazaki

Background

NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6) is a nuclear-encoded gene essential for the assembly of mitochondrial respiratory chain complex I (NADH:ubiquinone oxidoreductase), the largest and most intricate component of the oxidative phosphorylation system, and its mutations are associated with mitochondrial diseases. However, the functional consequences of many NDUFAF6 variants remain unclear.

Methods

We selected 24 NDUFAF6 variants from published studies and our internal sequencing database. Using CRISPR-Cas9, we generated NDUFAF6 knockout HEK293FT cells and transfected them with wild-type or mutant expression vectors. Functional validation was performed using a luminescence-based ATP assay under mitochondrial stress. In silico predictions were conducted using multiple tools, and ColabFold, MitoFates, and ProtScale were used for structural modeling, mitochondrial targeting analysis, and hydrophobicity profiling.

Results

Six variants (p.Pro26fs, p.Asp69Val, p.Arg113Ter, p.Leu193Ter, p.Arg303Ter, and p.Lys331Arg) failed to restore ATP levels in knockout cells, indicating a significant loss of function. Among these, p.Asp69Val and p.Arg113Ter were consistent with ClinVar classifications. However, other variants such as p.Arg303Ter and p.Lys331Arg also showed functional impairment, highlighting discrepancies between database annotations and experimental results. Most variants retained mitochondrial targeting features, though p.Pro26fs exhibited a shifted MPP cleavage site. Hydrophobicity analysis indicated structural instability in several variants.

Conclusions

Our study highlights the importance of experimental validation in improving the classification of NDUFAF6 variants. The ATP-based functional assay provides a useful and quantitative approach for assessing mitochondrial variant effects, which may complement in silico predictions and contribute to future efforts in mitochondrial disease diagnostics.

背景：NDUFAF6 （NADH：泛醌氧化还原酶复合物组装因子6）是线粒体呼吸链复合物I （NADH：泛醌氧化还原酶）组装所必需的核编码基因，是氧化磷酸化系统中最大和最复杂的组成部分，其突变与线粒体疾病有关。然而，许多NDUFAF6变异的功能后果仍不清楚。方法：我们从已发表的研究和我们的内部测序数据库中选择了24个NDUFAF6变异。利用CRISPR-Cas9，我们生成了NDUFAF6基因敲除的HEK293FT细胞，并用野生型或突变型表达载体转染。在线粒体应激下，使用基于发光的ATP测定进行功能验证。使用多种工具进行计算机预测，并使用ColabFold， MitoFates和ProtScale进行结构建模，线粒体靶向分析和疏水性分析。结果：6个变体（p.p pro26fs、p.p asp69val、p.p arg113ter、p.p eu193ter、p.p arg303ter和p.p lys331arg）未能恢复敲除细胞中的ATP水平，表明功能显著丧失。其中p.Asp69Val和p.Arg113Ter与ClinVar分类一致。然而，其他变异如p.a g303ter和p.Lys331Arg也表现出功能损伤，这突出了数据库注释与实验结果之间的差异。大多数变异保留了线粒体靶向特征，尽管p.p pro26fs表现出MPP切割位点的移位。疏水性分析表明在一些变异中结构不稳定。结论：我们的研究强调了实验验证对改进NDUFAF6变异分类的重要性。基于atp的功能分析为评估线粒体变异效应提供了一种有用的定量方法，可以补充计算机预测并有助于线粒体疾病诊断的未来努力。

{"title":"Functional Screening of NDUFAF6 Variants in Knockout Cells and Complementary Computational Analysis","authors":"Feng Jiang, Ayumu Sugiura, Yoshihito Kishita, Kohta Nakamura, Xinju Qi, Yuxin Liu, Kei Murayama, Yasushi Okazaki","doi":"10.1002/jcla.70147","DOIUrl":"10.1002/jcla.70147","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p><i>NDUFAF6</i> (NADH:ubiquinone oxidoreductase complex assembly factor 6) is a nuclear-encoded gene essential for the assembly of mitochondrial respiratory chain complex I (NADH:ubiquinone oxidoreductase), the largest and most intricate component of the oxidative phosphorylation system, and its mutations are associated with mitochondrial diseases. However, the functional consequences of many <i>NDUFAF6</i> variants remain unclear.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We selected 24 <i>NDUFAF6</i> variants from published studies and our internal sequencing database. Using CRISPR-Cas9, we generated <i>NDUFAF6</i> knockout HEK293FT cells and transfected them with wild-type or mutant expression vectors. Functional validation was performed using a luminescence-based ATP assay under mitochondrial stress. <i>In silico</i> predictions were conducted using multiple tools, and ColabFold, MitoFates, and ProtScale were used for structural modeling, mitochondrial targeting analysis, and hydrophobicity profiling.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Six variants (p.Pro26fs, p.Asp69Val, p.Arg113Ter, p.Leu193Ter, p.Arg303Ter, and p.Lys331Arg) failed to restore ATP levels in knockout cells, indicating a significant loss of function. Among these, p.Asp69Val and p.Arg113Ter were consistent with ClinVar classifications. However, other variants such as p.Arg303Ter and p.Lys331Arg also showed functional impairment, highlighting discrepancies between database annotations and experimental results. Most variants retained mitochondrial targeting features, though p.Pro26fs exhibited a shifted MPP cleavage site. Hydrophobicity analysis indicated structural instability in several variants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our study highlights the importance of experimental validation in improving the classification of <i>NDUFAF6</i> variants. The ATP-based functional assay provides a useful and quantitative approach for assessing mitochondrial variant effects, which may complement <i>in silico</i> predictions and contribute to future efforts in mitochondrial disease diagnostics.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"40 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70147","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145762763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

False Positive or False Negative—An Interesting Case in Prenatal Diagnostic Laboratory 假阳性或假阴性——产前诊断实验室的一个有趣案例。

IF 2.9 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Journal of Clinical Laboratory Analysis

Pub Date : 2025-12-12 DOI: 10.1002/jcla.70145

Pingping Zhang, Yanmei Sun, Haishen Tian, Xuedong Shi, Limin Rong, Yali Li

Background

Prenatal diagnosis relies on diverse clinical laboratory techniques to assess the health status of a developing fetus in utero. When multiple diagnostic methods applied to the same fetal sample yield discordant results, some suggestive of abnormalities and others normal, this discrepancy poses substantial challenges to accurate clinical interpretation and decision-making.

Case Presentation

A 23-year-old pregnant woman underwent non-invasive prenatal testing (NIPT) that yielded an abnormal fetal screening result. Subsequent prenatal diagnostic assessments, including single nucleotide polymorphism (SNP)-Array analysis and prenatal BACs-on-Beads (PNBoBs) assay, suggested a normal fetal karyotype. However, conventional karyotypic analysis and fluorescence in situ hybridization (FISH) uncovered fetal chromosomal abnormalities.

Conclusions

Different diagnostic techniques possess distinct strengths, limitations, and applicable scopes. Certain abnormalities may evade detection by a single technique due to technical constraints or sample-specific biological characteristics. Therefore, in prenatal diagnosis, clinicians should select suitable diagnostic modalities based on clinical context. When necessary, multiple complementary methods should be employed for cross-validation to approximate the true fetal status and avoid missed diagnoses and misdiagnoses.

背景：产前诊断依赖于多种临床实验室技术来评估子宫内胎儿发育的健康状况。当多种诊断方法应用于相同的胎儿样本产生不一致的结果，一些暗示异常和其他正常，这种差异给准确的临床解释和决策带来了实质性的挑战。病例介绍：一名23岁的孕妇接受了无创产前检查（NIPT），结果发现胎儿筛查结果异常。随后的产前诊断评估，包括单核苷酸多态性(SNP)-阵列分析和产前bac -on- beads （PNBoBs）检测，显示胎儿核型正常。然而，常规核型分析和荧光原位杂交（FISH）发现胎儿染色体异常。结论：不同的诊断技术具有不同的优势、局限性和适用范围。由于技术限制或样品特异性的生物学特性，某些异常可能无法通过单一技术检测。因此，在产前诊断中，临床医生应根据临床情况选择合适的诊断方式。必要时应采用多种互补方法进行交叉验证，以接近胎儿真实状态，避免漏诊和误诊。

{"title":"False Positive or False Negative—An Interesting Case in Prenatal Diagnostic Laboratory","authors":"Pingping Zhang, Yanmei Sun, Haishen Tian, Xuedong Shi, Limin Rong, Yali Li","doi":"10.1002/jcla.70145","DOIUrl":"10.1002/jcla.70145","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Prenatal diagnosis relies on diverse clinical laboratory techniques to assess the health status of a developing fetus in utero. When multiple diagnostic methods applied to the same fetal sample yield discordant results, some suggestive of abnormalities and others normal, this discrepancy poses substantial challenges to accurate clinical interpretation and decision-making.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case Presentation</h3>\u0000 \u0000 <p>A 23-year-old pregnant woman underwent non-invasive prenatal testing (NIPT) that yielded an abnormal fetal screening result. Subsequent prenatal diagnostic assessments, including single nucleotide polymorphism (SNP)-Array analysis and prenatal BACs-on-Beads (PNBoBs) assay, suggested a normal fetal karyotype. However, conventional karyotypic analysis and fluorescence in situ hybridization (FISH) uncovered fetal chromosomal abnormalities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Different diagnostic techniques possess distinct strengths, limitations, and applicable scopes. Certain abnormalities may evade detection by a single technique due to technical constraints or sample-specific biological characteristics. Therefore, in prenatal diagnosis, clinicians should select suitable diagnostic modalities based on clinical context. When necessary, multiple complementary methods should be employed for cross-validation to approximate the true fetal status and avoid missed diagnoses and misdiagnoses.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"40 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70145","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145742774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Comparison of Electrolytes and Hemoglobin Testing Between a Blood Gas Analyzer and Core Lab Analyzers 血气分析仪与核心实验室分析仪电解质和血红蛋白检测的比较。

IF 2.9 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Journal of Clinical Laboratory Analysis

Pub Date : 2025-12-10 DOI: 10.1002/jcla.70141

Shanyi Jin, Xiaojun Zhang, Yabo Wang, Shengnan Sun, Zhongliang Zhang, Xiujuan Ma, Huijun Li, Lianfa Zhang, Ning Zhang

Background

Blood gas analyzers (BGAs) are critical point-of-care testing tools in emergency departments (EDs), but their agreement with core lab analyzers for electrolytes and hemoglobin (Hb) remains uncertain. This study compared BGA and core lab results to evaluate the interchangeability of Hb/electrolytes and assess BGA turnaround time (TAT) for ED time-sensitive care.

Methods

Our retrospective analysis included 139 ED patients. We compared potassium (K⁺), sodium (Na⁺), chloride (Cl⁻), Hb, hematocrit (Hct), and TAT between the GEM4000 BGA (Instrumentation Laboratory, USA), XN3000 hematology analyzer (Sysmex, Japan), and TBA-FX8 biochemical analyzer (Canon Medical Systems, Japan). Interchangeability was assessed by a three-step protocol according to Clinical Laboratory Improvement Amendments (CLIA).

Results

Significant discrepancies existed between GEM4000 and the core labs in our institution. Interchangeability stratified by clinical acceptable limits (CAL): Cl⁻ and K⁺ showed good interchangeability; Hb showed moderate interchangeability; Na⁺ and Hct were poor. GEM4000 outperformed core labs in TAT: median full-cycle TAT (fcTAT) was 14.00 min and intra-laboratory TAT (labTAT) 4.00 min, versus TBA-FX8 (median fcTAT 77.00 min) and XN3000 (median fcTAT 48.00 min).

Conclusion

GEM4000 enhances ED care timeliness but has variable interchangeability with core labs. Caution is needed for Na⁺/Hct interpretation; clinical context (e.g., lipid/protein levels) should guide decision-making when discrepancies occur. For Hb and Hct discrepancies specifically, pre-analytical handling of BGA specimens (e.g., adequate mixing, timely testing within 30 min) should also be reviewed to rule out artifact-related errors.

背景：血气分析仪（BGAs）是急诊科（EDs）关键的护理点检测工具，但其与核心实验室电解质和血红蛋白（Hb）分析仪的一致性仍不确定。本研究比较了BGA和核心实验室结果，以评估Hb/电解质的互换性，并评估BGA周转时间（TAT）对ED时间敏感护理的影响。方法：对139例ED患者进行回顾性分析。我们比较了GEM4000 BGA（美国仪器实验室）、XN3000血液学分析仪（日本Sysmex）和TBA-FX8生化分析仪（日本佳能医疗系统）之间的钾（K+）、钠（Na+）、氯（Cl-）、血红蛋白、红细胞压积（Hct）和TAT。根据临床实验室改进修订（CLIA）通过三步方案评估互换性。结果：GEM4000与我院核心实验室存在显著差异。互换性按临床可接受限度（CAL）分层：Cl-和K+互换性良好；Hb表现出适度的互换性；Na+和Hct较差。GEM4000在TAT方面优于核心实验室：全周期TAT （fcTAT）中位数为14.00分钟，实验室内TAT （labTAT）中位数为4.00分钟，而TBA-FX8 （fcTAT中位数为77.00分钟）和XN3000 （fcTAT中位数为48.00分钟）。结论：GEM4000提高了ED护理的及时性，但与核心实验室的互换性存在差异。Na+/Hct解释需谨慎；当出现差异时，临床情况（如脂质/蛋白质水平）应指导决策。特别是对于Hb和Hct差异，还应审查BGA标本的分析前处理（例如，充分混合，在30分钟内及时检测），以排除人工制品相关的错误。

{"title":"Comparison of Electrolytes and Hemoglobin Testing Between a Blood Gas Analyzer and Core Lab Analyzers","authors":"Shanyi Jin, Xiaojun Zhang, Yabo Wang, Shengnan Sun, Zhongliang Zhang, Xiujuan Ma, Huijun Li, Lianfa Zhang, Ning Zhang","doi":"10.1002/jcla.70141","DOIUrl":"10.1002/jcla.70141","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Blood gas analyzers (BGAs) are critical point-of-care testing tools in emergency departments (EDs), but their agreement with core lab analyzers for electrolytes and hemoglobin (Hb) remains uncertain. This study compared BGA and core lab results to evaluate the interchangeability of Hb/electrolytes and assess BGA turnaround time (TAT) for ED time-sensitive care.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Our retrospective analysis included 139 ED patients. We compared potassium (K<sup>+</sup>), sodium (Na<sup>+</sup>), chloride (Cl<sup>−</sup>), Hb, hematocrit (Hct), and TAT between the GEM4000 BGA (Instrumentation Laboratory, USA), XN3000 hematology analyzer (Sysmex, Japan), and TBA-FX8 biochemical analyzer (Canon Medical Systems, Japan). Interchangeability was assessed by a three-step protocol according to Clinical Laboratory Improvement Amendments (CLIA).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Significant discrepancies existed between GEM4000 and the core labs in our institution. Interchangeability stratified by clinical acceptable limits (CAL): Cl<sup>−</sup> and K<sup>+</sup> showed good interchangeability; Hb showed moderate interchangeability; Na<sup>+</sup> and Hct were poor. GEM4000 outperformed core labs in TAT: median full-cycle TAT (fcTAT) was 14.00 min and intra-laboratory TAT (labTAT) 4.00 min, versus TBA-FX8 (median fcTAT 77.00 min) and XN3000 (median fcTAT 48.00 min).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>GEM4000 enhances ED care timeliness but has variable interchangeability with core labs. Caution is needed for Na<sup>+</sup>/Hct interpretation; clinical context (e.g., lipid/protein levels) should guide decision-making when discrepancies occur. For Hb and Hct discrepancies specifically, pre-analytical handling of BGA specimens (e.g., adequate mixing, timely testing within 30 min) should also be reviewed to rule out artifact-related errors.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"40 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70141","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145723501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

RETRACTION: CircPTPRM Accelerates Malignancy of Papillary Thyroid Cancer via miR-885-5p/DNMT3A Axis 回撤：CircPTPRM通过miR-885-5p/DNMT3A轴加速甲状腺乳头状癌的恶性。

IF 2.9 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Journal of Clinical Laboratory Analysis

Pub Date : 2025-12-09 DOI: 10.1002/jcla.70149

RETRACTION: D. Chen, X. Jiang, H. Luo, Q. Hua, and F. Zhang, “ CircPTPRM Accelerates Malignancy of Papillary Thyroid Cancer via miR-885-5p/DNMT3A Axis,” Journal of Clinical Laboratory Analysis 36, no. 10 (2022): e24688, https://doi.org/10.1002/jcla.24688.

The above article, published online on 13 September 2022 in Wiley Online Library (wileyonlinelibrary.com), has been retracted by agreement between the journal Editor-in-Chief, Rong Fu; and Wiley Periodicals, LLC. The retraction was agreed upon following the authors’ notification to the journal regarding irregularities in the ethical approval procedures for the study. Additionally, third-party concerns were raised regarding the reuse of the GAPDH panel in Figure 5B, which appears to have been previously published in a different scientific context. Further issues were noted concerning inaccuracies in some of the reported primer sequences. Accordingly, the article has been retracted. The authors have been informed of the retraction decision but were unavailable for final confirmation.

引用本文：陈德东，蒋晓霞，罗宏，华强，张峰，“CircPTPRM通过miR-885-5p/DNMT3A轴加速甲状腺乳头状癌恶性肿瘤的发生”，《临床检验杂志》第36期。10 (2022): e24688, https://doi.org/10.1002/jcla.24688。上述文章于2022年9月13日在线发表在Wiley在线图书馆（wileyonlinelibrary.com）上，经期刊主编荣福；和Wiley期刊有限责任公司。在作者通知该杂志关于该研究的伦理批准程序存在违规行为后，同意撤回该研究。此外，第三方对图5B中GAPDH面板的重复使用提出了担忧，这似乎是之前在不同的科学背景下发表的。进一步的问题被注意到在一些报道的引物序列不准确。因此，这篇文章已被撤回。作者已被告知撤稿决定，但无法得到最终确认。

{"title":"RETRACTION: CircPTPRM Accelerates Malignancy of Papillary Thyroid Cancer via miR-885-5p/DNMT3A Axis","authors":"","doi":"10.1002/jcla.70149","DOIUrl":"10.1002/jcla.70149","url":null,"abstract":"<p>\u0000 <b>RETRACTION</b>: <span>D. Chen</span>, <span>X. Jiang</span>, <span>H. Luo</span>, <span>Q. Hua</span>, and <span>F. Zhang</span>, “ <span>CircPTPRM Accelerates Malignancy of Papillary Thyroid Cancer via miR-885-5p/DNMT3A Axis</span>,” <i>Journal of Clinical Laboratory Analysis</i> <span>36</span>, no. <span>10</span> (<span>2022</span>): e24688, https://doi.org/10.1002/jcla.24688.\u0000 </p><p>The above article, published online on 13 September 2022 in Wiley Online Library (wileyonlinelibrary.com), has been retracted by agreement between the journal Editor-in-Chief, Rong Fu; and Wiley Periodicals, LLC. The retraction was agreed upon following the authors’ notification to the journal regarding irregularities in the ethical approval procedures for the study. Additionally, third-party concerns were raised regarding the reuse of the GAPDH panel in Figure 5B, which appears to have been previously published in a different scientific context. Further issues were noted concerning inaccuracies in some of the reported primer sequences. Accordingly, the article has been retracted. The authors have been informed of the retraction decision but were unavailable for final confirmation.</p>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"40 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70149","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145714507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss 一种新的移码变异C .1023_1029del （p.Asp342ArgfsTer54）导致HOMER2蛋白C末端延伸错误导致常染色体显性非综合征性听力损失

IF 2.9 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Journal of Clinical Laboratory Analysis

Pub Date : 2025-12-05 DOI: 10.1002/jcla.70137

Li-Ting Peng, Wei-Qian Wang, Sha-Sha Huang, Min Liu, Su-Yan Yang, Dong-Yang Kang, Xiang Wang, Xue Gao, Yong-Yi Yuan, Jin-Cao Xu

Background

Heterozygous variant in HOMER2 is associated with autosomal dominant nonsyndromic hearing loss (ADNSHL), designated as the locus of DFNA68. Only five pathogenic variants in HOMER2 have been identified to date.

Aims/Objectives

The aim of this study is to investigate the molecular etiology of ADNSHL in a four-generation Chinese family.

Material and Methods

Whole exome sequencing analysis was conducted to detect the disease-causing variant. Co-segregation analysis was performed using Sanger sequencing.

Results

The family exhibited autosomal dominant, progressive, post-lingual, nonsyndromic sensorineural hearing loss, similar to that observed in previously reported DFNA68 families. Unlike the initially high-frequency hearing loss observed in the previously reported families, the young proband in our study (IV:4, 18 years old) exhibited typical low-frequency hearing loss. A novel frameshift variant, c.1023_1029del (p.Asp342ArgfsTer54), in HOMER2 was identified, which co-segregated with the hearing loss phenotype in the family. The variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus. Based on the American College of Medical Genetics and Genomics guidelines, the variant c.1023_1029del (p.Asp342ArgfsTer54) is classified as likely pathogenic.

Conclusions and Significance

These findings may help expand the spectrum of pathogenic variants of the HOMER2 gene and provide a molecular interpretation for these patients with ADNSHL.

背景：HOMER2的杂合变异与常染色体显性非综合征性听力损失（ADNSHL）相关，被指定为DFNA68位点。迄今为止，仅鉴定出HOMER2的5种致病变异。目的：本研究的目的是研究一个中国四代家庭ADNSHL的分子病因。材料和方法：采用全外显子组测序分析检测致病变异。采用Sanger测序进行共分离分析。结果：该家族表现为常染色体显性，进行性，语后，非综合征性感音神经性听力损失，与先前报道的DFNA68家族相似。与先前报道的家庭中最初观察到的高频听力损失不同，我们研究中的年轻先证者（IV: 4,18岁）表现出典型的低频听力损失。在HOMER2中发现了一个新的移码变异c.1023_1029del (p.Asp342ArgfsTer54)，它与家族中听力损失表型共分离。该变体删除了7个核苷酸，导致错误的蛋白C末端延伸。根据美国医学遗传学和基因组学学院的指导方针，c.1023_1029del （p.Asp342ArgfsTer54）变异被归类为可能致病。结论和意义：这些发现可能有助于扩大HOMER2基因的致病变异谱，并为这些ADNSHL患者提供分子解释。

{"title":"A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss","authors":"Li-Ting Peng, Wei-Qian Wang, Sha-Sha Huang, Min Liu, Su-Yan Yang, Dong-Yang Kang, Xiang Wang, Xue Gao, Yong-Yi Yuan, Jin-Cao Xu","doi":"10.1002/jcla.70137","DOIUrl":"10.1002/jcla.70137","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Heterozygous variant in <i>HOMER2</i> is associated with autosomal dominant nonsyndromic hearing loss (ADNSHL), designated as the locus of DFNA68. Only five pathogenic variants in <i>HOMER2</i> have been identified to date.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims/Objectives</h3>\u0000 \u0000 <p>The aim of this study is to investigate the molecular etiology of ADNSHL in a four-generation Chinese family.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Material and Methods</h3>\u0000 \u0000 <p>Whole exome sequencing analysis was conducted to detect the disease-causing variant. Co-segregation analysis was performed using Sanger sequencing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The family exhibited autosomal dominant, progressive, post-lingual, nonsyndromic sensorineural hearing loss, similar to that observed in previously reported DFNA68 families. Unlike the initially high-frequency hearing loss observed in the previously reported families, the young proband in our study (IV:4, 18 years old) exhibited typical low-frequency hearing loss. A novel frameshift variant, c.1023_1029del (p.Asp342ArgfsTer54), in <i>HOMER2</i> was identified, which co-segregated with the hearing loss phenotype in the family. The variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus. Based on the American College of Medical Genetics and Genomics guidelines, the variant c.1023_1029del (p.Asp342ArgfsTer54) is classified as likely pathogenic.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions and Significance</h3>\u0000 \u0000 <p>These findings may help expand the spectrum of pathogenic variants of the <i>HOMER2</i> gene and provide a molecular interpretation for these patients with ADNSHL.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"40 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70137","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145687528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Reduced Serum Soluble L-Selectin Levels but Not PCSK9 May Be Associated With Generalized Anxiety Disorder: A Case–Control Study 血清可溶性l -选择素水平降低而非PCSK9可能与广泛性焦虑障碍相关：一项病例对照研究

IF 2.9 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Journal of Clinical Laboratory Analysis

Pub Date : 2025-12-05 DOI: 10.1002/jcla.70144

Farzana Akter Munny, Abir Hasan Pranto, Shimanta Paul, Md. Aminul Haque, Rashna Sharmin, Sharifa Sultana, Md. Alamgir Hossain, Md. Rabiul Islam

Background

Generalized anxiety disorder (GAD) is a complex psychiatric disorder characterized by constant, unconstrained worrying. This investigation aimed to explore the potential role of soluble L-selectin (sL-selectin) and proprotein convertase subtilisin/kexin type 9 (PCSK9) in the pathogenesis of GAD.

Methods

The study included 88 patients and 88 healthy controls (HCs) matched with age and sex. A psychiatrist confirmed the GAD diagnosis, assessed symptom severity using the GAD-7 scale, and evaluated controls based on the DSM-5 criteria. Serum levels of sL-selectin and PCSK9 were quantified using commercially available ELISA kits.

Results

Serum sL-selectin concentrations were notably lower in GAD patients than HCs (0.51 ± 0.07 μg/mL vs. 1.52 ± 0.18 μg/mL). Additionally, there was a significant inverse association between sL-selectin levels and GAD-7 scores (r = −0.359, p = 0.001). This sL-selectin also demonstrated strong predictive ability in the ROC investigation, with an area under the curve (AUC) of 0.718 (p < 0.001), indicating 64.3% sensitivity and 76.5% specificity at a threshold of 0.60 μg/mL. In contrast, no notable difference was observed for serum PCSK9 levels between GAD patients and HCs.

Conclusion

This study provides a better understanding of the relationship between inflammatory cytokines and GAD pathogenesis. The results indicate that sL-selectin, rather than PCSK9, may be associated with the pathophysiology of GAD. Still, more advanced investigations with greater sample sizes and extensive studies are essential to verify the probable diagnostic utility of serum sL-selectin levels.

背景：广泛性焦虑障碍（GAD）是一种复杂的精神障碍，其特征是持续的、无约束的担忧。本研究旨在探讨可溶性l -选择素（sL-selectin）和蛋白转化酶枯草杆菌素/ keexin 9型（PCSK9）在广泛性ad发病机制中的潜在作用。方法：研究纳入88例患者和88例年龄、性别相匹配的健康对照。精神科医生确认了广泛性焦虑症的诊断，使用GAD-7量表评估症状严重程度，并根据DSM-5标准评估对照组。使用市售ELISA试剂盒定量血清sl -选择素和PCSK9水平。结果：GAD患者血清sl -选择素浓度明显低于正常人（0.51±0.07 μg/mL vs. 1.52±0.18 μg/mL）。此外，sL-selectin水平与GAD-7评分呈显著负相关（r = -0.359, p = 0.001）。该sL-selectin在ROC调查中也显示出较强的预测能力，曲线下面积（AUC）为0.718 (p)。结论：本研究更好地了解了炎症因子与GAD发病机制的关系。结果表明，sl -选择素可能与广泛性焦虑症的病理生理有关，而不是PCSK9。然而，更大样本量的更先进的调查和广泛的研究对于验证血清sl -选择素水平可能的诊断效用至关重要。

{"title":"Reduced Serum Soluble L-Selectin Levels but Not PCSK9 May Be Associated With Generalized Anxiety Disorder: A Case–Control Study","authors":"Farzana Akter Munny, Abir Hasan Pranto, Shimanta Paul, Md. Aminul Haque, Rashna Sharmin, Sharifa Sultana, Md. Alamgir Hossain, Md. Rabiul Islam","doi":"10.1002/jcla.70144","DOIUrl":"10.1002/jcla.70144","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Generalized anxiety disorder (GAD) is a complex psychiatric disorder characterized by constant, unconstrained worrying. This investigation aimed to explore the potential role of soluble L-selectin (sL-selectin) and proprotein convertase subtilisin/kexin type 9 (PCSK9) in the pathogenesis of GAD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study included 88 patients and 88 healthy controls (HCs) matched with age and sex. A psychiatrist confirmed the GAD diagnosis, assessed symptom severity using the GAD-7 scale, and evaluated controls based on the DSM-5 criteria. Serum levels of sL-selectin and PCSK9 were quantified using commercially available ELISA kits.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Serum sL-selectin concentrations were notably lower in GAD patients than HCs (0.51 ± 0.07 μg/mL vs. 1.52 ± 0.18 μg/mL). Additionally, there was a significant inverse association between sL-selectin levels and GAD-7 scores (<i>r</i> = −0.359, <i>p</i> = 0.001). This sL-selectin also demonstrated strong predictive ability in the ROC investigation, with an area under the curve (AUC) of 0.718 (<i>p</i> < 0.001), indicating 64.3% sensitivity and 76.5% specificity at a threshold of 0.60 μg/mL. In contrast, no notable difference was observed for serum PCSK9 levels between GAD patients and HCs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study provides a better understanding of the relationship between inflammatory cytokines and GAD pathogenesis. The results indicate that sL-selectin, rather than PCSK9, may be associated with the pathophysiology of GAD. Still, more advanced investigations with greater sample sizes and extensive studies are essential to verify the probable diagnostic utility of serum sL-selectin levels.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"40 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70144","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145687519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic Evidence Implicating Gut Microbiota and Circulating Cytokines in Sjögren's Syndrome 肠道微生物群和循环细胞因子与Sjögren综合征相关的遗传证据。

IF 2.9 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Journal of Clinical Laboratory Analysis

Pub Date : 2025-12-05 DOI: 10.1002/jcla.70136

Yuchen Cai, Tianyi Zhou, Wenjun Shi, Xia Ding, Xueyao Cai, Li Yu

Background

This study investigates the potential interplay between gut microbiota and circulating cytokines in Sjögren's syndrome (SS) through a bidirectional and mediation Mendelian randomization (MR) approach.

Methods

Summary-level statistics of 473 gut microbiota (n = 5959), 41 circulating cytokines (n = 8293), and SS (ncase = 2735, ncontrol = 399,355) were obtained from genome-wide association studies (GWAS) in European populations. A two-sample MR analysis was employed to investigate the bidirectional causal effects of gut microbiota and circulating cytokines on SS, and mediation analyses were applied to discover potential mediating gut microbiota and circulating cytokines. A series of sensitivity analyses were conducted to address heterogeneity and pleiotropy concerns.

Results

Fifteen taxa were found to be causally associated with SS, and SS had a causal effect on 26 taxa. A bidirectional causal relationship was identified between CAG-269 sp001916065 and SS, and between UBA7703 and SS. Genetically predicted levels of five circulating cytokines—MIG, IL-5, IL-1RA, IL-2RA, and SCGF-β—were found to potentially affect SS, and genetically predicted SS was associated with increased levels of two circulating cytokines, IL-1β and IL-5. A bidirectional causal relationship was identified between circulating IL-5 and SS. Mediation analyses further revealed that circulating cytokines do not mediate the gut microbiome's influence on SS, and conversely, the gut microbiome does not influence circulating cytokines to affect SS.

Conclusion

This study provides compelling evidence for causal effects of gut microbiome composition and circulating cytokines on SS risk. Further mediation analysis suggests that these biological factors may operate independently to influence SS development.

背景：本研究通过双向和中介孟德尔随机化（MR）方法研究了Sjögren综合征（SS）中肠道微生物群和循环细胞因子之间的潜在相互作用。方法：从欧洲人群的全基因组关联研究（GWAS）中获得473个肠道微生物群（n = 5959）、41个循环细胞因子（n = 8293）和SS （ncase = 2735, ncontrol = 399,355）的汇总统计数据。通过双样本MR分析研究肠道菌群和循环细胞因子对SS的双向因果关系，并通过中介分析发现可能介导SS的肠道菌群和循环细胞因子。进行了一系列敏感性分析，以解决异质性和多效性问题。结果：15个类群与SS存在因果关系，其中26个类群与SS存在因果关系。发现CAG-269 sp001916065与SS之间存在双向因果关系，UBA7703与SS之间存在双向因果关系。基因预测的五种循环细胞因子（mig、IL-5、IL-1RA、IL-2RA和SCGF-β）水平可能影响SS，基因预测的SS与两种循环细胞因子IL-1β和IL-5水平升高相关。循环IL-5与SS之间存在双向因果关系，进一步的中介分析表明，循环细胞因子不介导肠道微生物组对SS的影响，反过来，肠道微生物组也不影响循环细胞因子对SS的影响。结论：本研究为肠道微生物组组成和循环细胞因子对SS风险的因果关系提供了有力的证据。进一步的中介分析表明，这些生物因素可能独立地影响SS的发展。

{"title":"Genetic Evidence Implicating Gut Microbiota and Circulating Cytokines in Sjögren's Syndrome","authors":"Yuchen Cai, Tianyi Zhou, Wenjun Shi, Xia Ding, Xueyao Cai, Li Yu","doi":"10.1002/jcla.70136","DOIUrl":"10.1002/jcla.70136","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This study investigates the potential interplay between gut microbiota and circulating cytokines in Sjögren's syndrome (SS) through a bidirectional and mediation Mendelian randomization (MR) approach.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Summary-level statistics of 473 gut microbiota (<i>n</i> = 5959), 41 circulating cytokines (<i>n</i> = 8293), and SS (<i>n</i>case = 2735, <i>n</i>control = 399,355) were obtained from genome-wide association studies (GWAS) in European populations. A two-sample MR analysis was employed to investigate the bidirectional causal effects of gut microbiota and circulating cytokines on SS, and mediation analyses were applied to discover potential mediating gut microbiota and circulating cytokines. A series of sensitivity analyses were conducted to address heterogeneity and pleiotropy concerns.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fifteen taxa were found to be causally associated with SS, and SS had a causal effect on 26 taxa. A bidirectional causal relationship was identified between <i>CAG-269 sp001916065</i> and SS, and between <i>UBA7703</i> and SS. Genetically predicted levels of five circulating cytokines—MIG, IL-5, IL-1RA, IL-2RA, and SCGF-β—were found to potentially affect SS, and genetically predicted SS was associated with increased levels of two circulating cytokines, IL-1β and IL-5. A bidirectional causal relationship was identified between circulating IL-5 and SS. Mediation analyses further revealed that circulating cytokines do not mediate the gut microbiome's influence on SS, and conversely, the gut microbiome does not influence circulating cytokines to affect SS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study provides compelling evidence for causal effects of gut microbiome composition and circulating cytokines on SS risk. Further mediation analysis suggests that these biological factors may operate independently to influence SS development.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"40 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12795990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145687606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

DNA-Based Liquid Biopsy for Evaluating Surgical and Postsurgical Outcomes in Gynecologic Malignancies: A Systematic Review 基于dna的液体活检评估妇科恶性肿瘤手术和术后预后：系统综述。

IF 2.9 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Journal of Clinical Laboratory Analysis

Pub Date : 2025-12-01 DOI: 10.1002/jcla.70139

Samaneh Yavari, Sepide Javankiani, Foroozan Yarahmadi, Rojin Sarallah, Behandokht Rezaei, Maryam Maroufi, Mona Khabbazkar Amlashi, Mahshid Imankhan, Mahnaz Marvi, Neda Aslani, Arezou Soltanattar, Zahra Mohammadi, Alireza Azani, Pegah Kavousinia

Introduction

DNA-based liquid biopsies, including circulating tumor DNA (ctDNA) and cell-free DNA (cfDNA), are emerging as minimally invasive biomarkers for monitoring surgical and postsurgical outcomes in gynecologic malignancies. These tools offer the potential to guide early intervention, refine risk stratification, and improve prognostic accuracy. This systematic review aimed to assess the clinical utility of DNA-based liquid biopsies in evaluating recurrence, surgical success, and preoperative diagnosis in gynecologic cancers.

Methods

A systematic review was conducted in accordance with PRISMA guidelines, covering studies published from 2017 to 2025. Literature searches were performed in PubMed, Scopus, and Web of Science. A total of 32 eligible observational studies involving 3210 patients with ovarian, endometrial, uterine, and other gynecologic malignancies were included. Study quality was assessed using the Newcastle-Ottawa Scale (NOS).

Results

The studies showed a broad geographic and methodological diversity, with a median NOS score of 7. CtDNA and cfDNA demonstrated promise in three key areas: (1) Recurrence prediction—postoperative ctDNA positivity was associated with higher relapse rates and reduced disease-free survival; (2) Monitoring surgical outcomes and treatment response—ctDNA dynamics more accurately reflected tumor burden than traditional markers like CA125; (3) Preoperative diagnostic support—cfDNA methylation profiling and cfDNA/CA125 models enhanced malignancy detection and risk stratification. Ovarian and endometrial cancers were most frequently studied.

Conclusions

DNA-based liquid biopsies show strong potential in perioperative care for gynecologic cancers. Their integration into clinical workflows could improve the detection of minimal residual disease and inform individualized surgical planning.

基于DNA的液体活检，包括循环肿瘤DNA （ctDNA）和游离细胞DNA (cfDNA)，正在成为监测妇科恶性肿瘤手术和术后预后的微创生物标志物。这些工具提供了指导早期干预、完善风险分层和提高预后准确性的潜力。本系统综述旨在评估基于dna的液体活检在评估妇科癌症复发、手术成功和术前诊断中的临床应用。方法：根据PRISMA指南进行系统评价，涵盖2017年至2025年发表的研究。文献检索在PubMed、Scopus和Web of Science中进行。共纳入32项符合条件的观察性研究，涉及3210例卵巢、子宫内膜、子宫和其他妇科恶性肿瘤患者。采用纽卡斯尔-渥太华量表(NOS)评估研究质量。结果：研究显示出广泛的地理和方法多样性，NOS得分中位数为7分。CtDNA和cfDNA在三个关键领域显示出希望：(1)复发预测-术后CtDNA阳性与较高的复发率和降低的无病生存期相关；(2)监测手术结果和治疗反应- ctdna动态比CA125等传统标志物更准确地反映肿瘤负荷；(3)术前诊断支持-cfDNA甲基化分析和cfDNA/CA125模型增强了恶性肿瘤的检测和风险分层。卵巢癌和子宫内膜癌是最常见的研究对象。结论：基于dna的液体活检在妇科肿瘤围手术期护理中具有很大的潜力。将它们整合到临床工作流程中可以提高对微小残留疾病的检测，并为个性化的手术计划提供信息。

{"title":"DNA-Based Liquid Biopsy for Evaluating Surgical and Postsurgical Outcomes in Gynecologic Malignancies: A Systematic Review","authors":"Samaneh Yavari, Sepide Javankiani, Foroozan Yarahmadi, Rojin Sarallah, Behandokht Rezaei, Maryam Maroufi, Mona Khabbazkar Amlashi, Mahshid Imankhan, Mahnaz Marvi, Neda Aslani, Arezou Soltanattar, Zahra Mohammadi, Alireza Azani, Pegah Kavousinia","doi":"10.1002/jcla.70139","DOIUrl":"10.1002/jcla.70139","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>DNA-based liquid biopsies, including circulating tumor DNA (ctDNA) and cell-free DNA (cfDNA), are emerging as minimally invasive biomarkers for monitoring surgical and postsurgical outcomes in gynecologic malignancies. These tools offer the potential to guide early intervention, refine risk stratification, and improve prognostic accuracy. This systematic review aimed to assess the clinical utility of DNA-based liquid biopsies in evaluating recurrence, surgical success, and preoperative diagnosis in gynecologic cancers.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A systematic review was conducted in accordance with PRISMA guidelines, covering studies published from 2017 to 2025. Literature searches were performed in PubMed, Scopus, and Web of Science. A total of 32 eligible observational studies involving 3210 patients with ovarian, endometrial, uterine, and other gynecologic malignancies were included. Study quality was assessed using the Newcastle-Ottawa Scale (NOS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The studies showed a broad geographic and methodological diversity, with a median NOS score of 7. CtDNA and cfDNA demonstrated promise in three key areas: (1) Recurrence prediction—postoperative ctDNA positivity was associated with higher relapse rates and reduced disease-free survival; (2) Monitoring surgical outcomes and treatment response—ctDNA dynamics more accurately reflected tumor burden than traditional markers like CA125; (3) Preoperative diagnostic support—cfDNA methylation profiling and cfDNA/CA125 models enhanced malignancy detection and risk stratification. Ovarian and endometrial cancers were most frequently studied.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>DNA-based liquid biopsies show strong potential in perioperative care for gynecologic cancers. Their integration into clinical workflows could improve the detection of minimal residual disease and inform individualized surgical planning.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"40 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12795986/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145654178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Iron Profile Variability in Hemodialysis Chronic Kidney Disease Patients 血液透析慢性肾病患者的铁谱变异性。

IF 2.9 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Journal of Clinical Laboratory Analysis

Pub Date : 2025-11-30 DOI: 10.1002/jcla.70132

Collince Odiwuor Ogolla, Lucy W. Karani, Stanslaus Musyoki, Phidelis Maruti

Background

Chronic kidney disease (CKD) constitutes one of the most important global health challenges and iron deficiency (ID) anemia is a frequent complication, especially in patients on dialysis.

Objectives

This study aimed to assess differences in iron profile in dialysis-adherent and non-adherent chronic kidney disease subjects and analyze the profiles between both groups.

Methods

One hundred and twenty patients undergoing hemodialysis were included in this cross-sectional study, classified into two subcategories of dialysis adherence. The parameters of iron profile—also defined as serum ferritin, transferrin saturation (TSAT), hemoglobin, and serum iron—were studied. Multivariate regression analysis was carried out, adjusting for possible confounders such as age, sex, diabetes, and duration of dialysis.

Results

Serum ferritin was significantly higher among adherent patients (235.6 ± 120.2 ng/mL vs. 185.2 ± 105.3 ng/mL; p = 0.03), as were TSAT (33.4% ± 9.3% vs. 28.8% ± 10.2%; p = 0.02) and hemoglobin (11.5 ± 1.8 g/dL vs. 10.2 ± 2.1 g/dL; p = 0.04). Non-adherence to the therapy was associated with a significantly higher number of patients having iron deficiency anemia (63% in non-adherent vs. 40% in adherent patients; p = 0.01). Multivariate analysis confirmed that dialysis adherence was independently associated with better iron status (p < 0.05 for all parameters).

Conclusion

In hemodialysis patients, adherence to dialysis presents as a strong predictor of a better iron profile. Strategies that improve adherence to dialysis treatment by optimizing iron metabolism among chronic kidney disease patients should be in place.

背景：慢性肾脏疾病（CKD）是全球最重要的健康挑战之一，缺铁性贫血（ID）是一种常见的并发症，尤其是透析患者。目的：本研究旨在评估透析依从性和非依从性慢性肾病患者铁谱的差异，并分析两组之间的谱。方法：将120例接受血液透析的患者纳入本横断面研究，将透析依从性分为两个亚类。研究了血清铁蛋白、转铁蛋白饱和度（TSAT）、血红蛋白和血清铁等铁谱参数。进行多变量回归分析，调整可能的混杂因素，如年龄、性别、糖尿病和透析持续时间。结果：粘附组患者血清铁蛋白（235.6±120.2 ng/mL vs. 185.2±105.3 ng/mL, p = 0.03）、TSAT（33.4%±9.3% vs. 28.8%±10.2%,p = 0.02）和血红蛋白（11.5±1.8 g/dL vs. 10.2±2.1 g/dL, p = 0.04）明显升高。不坚持治疗与缺铁性贫血患者数量显著增加相关（未坚持治疗的患者为63%，坚持治疗的患者为40%；p = 0.01）。多变量分析证实，透析依从性与更好的铁状态独立相关(p结论：在血液透析患者中，坚持透析是更好的铁状况的一个强有力的预测因子。通过优化慢性肾病患者的铁代谢来提高透析治疗依从性的策略应该到位。

{"title":"Iron Profile Variability in Hemodialysis Chronic Kidney Disease Patients","authors":"Collince Odiwuor Ogolla, Lucy W. Karani, Stanslaus Musyoki, Phidelis Maruti","doi":"10.1002/jcla.70132","DOIUrl":"10.1002/jcla.70132","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Chronic kidney disease (CKD) constitutes one of the most important global health challenges and iron deficiency (ID) anemia is a frequent complication, especially in patients on dialysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>This study aimed to assess differences in iron profile in dialysis-adherent and non-adherent chronic kidney disease subjects and analyze the profiles between both groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>One hundred and twenty patients undergoing hemodialysis were included in this cross-sectional study, classified into two subcategories of dialysis adherence. The parameters of iron profile—also defined as serum ferritin, transferrin saturation (TSAT), hemoglobin, and serum iron—were studied. Multivariate regression analysis was carried out, adjusting for possible confounders such as age, sex, diabetes, and duration of dialysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Serum ferritin was significantly higher among adherent patients (235.6 ± 120.2 ng/mL vs. 185.2 ± 105.3 ng/mL; <i>p</i> = 0.03), as were TSAT (33.4% ± 9.3% vs. 28.8% ± 10.2%; <i>p</i> = 0.02) and hemoglobin (11.5 ± 1.8 g/dL vs. 10.2 ± 2.1 g/dL; <i>p</i> = 0.04). Non-adherence to the therapy was associated with a significantly higher number of patients having iron deficiency anemia (63% in non-adherent vs. 40% in adherent patients; <i>p</i> = 0.01). Multivariate analysis confirmed that dialysis adherence was independently associated with better iron status (<i>p</i> < 0.05 for all parameters).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In hemodialysis patients, adherence to dialysis presents as a strong predictor of a better iron profile. Strategies that improve adherence to dialysis treatment by optimizing iron metabolism among chronic kidney disease patients should be in place.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 24","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70132","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145634037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0