Journal of Clinical Laboratory Analysis最新文献

{"title":"Standardization of the Monocyte Monolayer Assay: Lessons Learned From Laboratory Optimization and Literature Review.","authors":"Shamee Shastry, Kavya Babu, Deepika Chenna, Ganesh Mohan, Kartik Iyer","doi":"10.1002/jcla.70381","DOIUrl":"https://doi.org/10.1002/jcla.70381","url":null,"abstract":"<p><strong>Objectives: </strong>Several variables influence the outcome of cellular assays. We conducted a comprehensive literature review to identify the factors affecting the Monocyte Monolayer Assay (MMA) and subsequently standardized the assay through systematic in-house laboratory trials.</p><p><strong>Methods: </strong>The study was conducted in two phases. Phase 1 involved a literature review using PubMed and Scopus databases to identify factors influencing the assay. Phase 2 included experimental trials to evaluate the effects of these factors. Monocytes were isolated from buffy coat bags, and assay parameters, such as centrifugation speed, monocyte adherence conditions, RBC sensitization, incubation time, and staining, were systematically standardized. A blinded evaluation was employed for slide reading to assess the influence of procedural factors on assay reliability.</p><p><strong>Results: </strong>A literature review using the PubMed and Scopus databases identified key variables influencing MMA performance. Twelve sequential trials were conducted to identify the effects of these variables on assay outcome. Optimal centrifugation speed and time was 600 × g for 15 min, and the use of four buffy coat bags improved monocyte yield to 8.3 × 10⁶/mL. Dilution with Phosphate buffer saline (PBS, pH 7.2) and use of Histopaque provided consistent cell recovery. A 1-h incubation yielded optimal monocyte adherence with minimal lysis. The final protocol demonstrated high reproducibility and improved visualization of phagocytosis.</p><p><strong>Conclusion: </strong>This study emphasizes the importance of standardizing the MMA procedure before implementation. Optimizing the parameters to ensure enhanced monocyte yield, reduced cell lysis, and reliable interpretation for assessing the clinical significance of red cell alloantibodies is essential.</p>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":" ","pages":"e70381"},"PeriodicalIF":2.5,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149228070","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":"Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations.","authors":"Jieqiong Xie, Yanru Huang, Xingmei Yao, Lutan Zhang, Yixi Zhou, Wenbo Wang, Jian Zhang, Yunsheng Ge","doi":"10.1002/jcla.70382","DOIUrl":"10.1002/jcla.70382","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to assess the value of genetic testing in the prenatal congenital heart disease (CHD) diagnosis and evaluate the relationship between genetic variants and prenatal phenotypes.</p><p><strong>Methods: </strong>A total of 235 fetuses with CHD were classified into three groups: A: isolated simple CHD, B: isolated complex CHD, and C: non-isolated CHD. All patients underwent karyotyping and copy number variation sequencing (CNV-seq), with whole-exome sequencing (WES) performed when indicated. Statistical analyses conducted using IBM SPSS assessed the diagnostic performance of the genetic testing and detection rates across CHD subtypes.</p><p><strong>Results: </strong>Karyotyping and CNV-seq revealed that chromosomal abnormality detection, particularly numerical abnormalities, was significantly associated with extracardiac anomalies (p < 0.05). In contrast, the detection rates of pathogenic/likely pathogenic (P/LP) CNVs (CNV-seq, p = 0.384) and pathogenic gene variants (WES, p = 0.624) did not differ significantly among the three groups. The severity of intracardiac abnormalities, the presence of extracardiac anomalies, and the detection of genetic abnormalities significantly influenced parental decisions regarding pregnancy termination (p < 0.05). The combination of karyotyping and CNV-seq increased the detection rate by 5.11%. In karyotyping/CNV-seq-negative fetuses who underwent WES, WES increased the detection rate by 37.21% (16/43).</p><p><strong>Conclusion: </strong>Combined genetic testing significantly improved the detection rate and the detection of chromosomal numerical abnormalities was strongly associated with the presence of extracardiac anomalies. Parental decisions regarding pregnancy continuation were significantly influenced by the severity of intracardiac abnormalities, the presence of extracardiac anomalies, and the identification of genetic abnormalities.</p>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":" ","pages":"e70382"},"PeriodicalIF":2.5,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149207162","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}

{"title":"Molecular Genetic Analysis and Prenatal Diagnosis of a Family With MECP2 Duplication Syndrome.","authors":"FengQiu Lin, DingGuo Chen, ZhengLin Lu, Yu Huang, ChunFang Wang, JuHua Liang, XueJuan Nong, ZhengYi Chang, FuBo Wei, GuiDan Xu","doi":"10.1002/jcla.70373","DOIUrl":"10.1002/jcla.70373","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to conduct a molecular genetic analysis and prenatal diagnosis for a family with MECP2 duplication syndrome (MDS), with the goal of improving diagnostic accuracy and enabling informed reproductive decisions to reduce the incidence of this condition.</p><p><strong>Methods: </strong>The study involved a proband (a 15-week-old fetus), his symptomatic older brother, and their parents. Genomic DNA from chorionic villus and peripheral blood samples was analyzed using high-throughput sequencing to detect chromosomal copy number variations (CNVs). To confirm the findings, multiplex ligation-dependent probe amplification (MLPA) was specifically employed.</p><p><strong>Results: </strong>High-throughput sequencing identified a 0.35 Mb duplication at Xq28 in the fetus and his mother, and a 0.4 Mb duplication in the brother. The duplicated region contained the critical MECP2 gene. MLPA analysis confirmed the MECP2 gene duplication in the fetus, leading to a definitive diagnosis of MDS. The mother was identified as an asymptomatic carrier.</p><p><strong>Conclusion: </strong>Both the proband and his brother were diagnosed with MDS, having inherited the duplication from their asymptomatic mother. The combined use of high-throughput sequencing and MLPA proved to be an effective strategy for accurate pedigree analysis and prenatal diagnosis of MDS, providing a crucial basis for genetic counseling.</p>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":" ","pages":"e70373"},"PeriodicalIF":2.5,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149194135","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}

{"title":"Flow Cytometric Lymphocyte Subset Enumeration for Lymphopenia Grading and C-Reactive Protein-Defined Inflammation Discrimination.","authors":"Shicheng Li, Tingting Fu, Yang Yang, Yuwei Pu, Wenying Yan, Junjun Zhang","doi":"10.1002/jcla.70375","DOIUrl":"10.1002/jcla.70375","url":null,"abstract":"<p><strong>Background: </strong>To determine whether flow cytometric lymphocyte subset enumeration could reproduce conventional absolute lymphocyte count (ALC)-based lymphopenia grading and add information for discriminating C-reactive protein (CRP)-defined inflammation.</p><p><strong>Methods: </strong>We retrospectively analyzed 2896 hospitalized adults with concurrent complete blood count and flow cytometric lymphocyte subset analysis (T, CD4+ T, CD8+ T, B, and natural killer cells). CRP-defined inflammation was defined as high-sensitivity CRP ≥ 10 mg/L. The 974 patients with measured CRP constituted the prespecified primary discrimination cohort. Spearman correlations, receiver operating characteristic analyses with Youden-derived cutoffs, quadratic-weighted kappa, five-fold internal validation, and multivariable logistic regression were used.</p><p><strong>Results: </strong>T-cell absolute count correlated most strongly with ALC (rho = 0.886), largely reflecting its dominant contribution to the total lymphocyte pool. Internally optimized T-cell cutoffs of 700, 573, and 356 cells/μL showed substantial agreement with conventional grading (weighted kappa = 0.792). For CRP-defined inflammation (20.9%), conventional and T-cell grades showed only modest discrimination (areas under the curve, 0.611-0.622). B-cell count had the numerically highest single-marker area under the curve (0.667), although all single-marker values remained below clinically actionable thresholds. Parsimonious multivariable models incorporating B-cell count yielded modest cross-validated areas under the curve (0.628-0.642), whereas a full five-subset model exhibited severe collinearity and unstable coefficients.</p><p><strong>Conclusion: </strong>T-cell count serves as an internally optimized surrogate for conventional lymphopenia grading rather than an independent classifier. For CRP-defined inflammation, lymphocyte subset models offer limited cross-sectional discrimination, with B-cell count providing the most reproducible incremental signal.</p>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":" ","pages":"e70375"},"PeriodicalIF":2.5,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673062/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149194137","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}

{"title":"Analysis of Notch1 and Notch3 Signaling Pathway Components in Benign Prostatic Hyperplasia and Prostate Cancer Patients","authors":"Emine Yagci,&nbsp;Cansu Ozbayer,&nbsp;Ata Ozen,&nbsp;Gamze Zengin,&nbsp;Hulyam Kurt","doi":"10.1002/jcla.70339","DOIUrl":"10.1002/jcla.70339","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Prostate cancer (PCa) and benign prostatic hyperplasia (BPH) significantly affect men's quality of life. Due to low PSA specificity, more sensitive genetic and protein markers are needed. This study comparatively evaluates variations in NOTCH1 and NOTCH3 gene regions—key components of the Notch pathway—and serum protein levels in PCa and BPH patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study included 90 individuals: 15 healthy controls, 25 BPH, 25 localized PCa (LPCa), and 25 metastatic PCa (MPCa) patients. NOTCH1 and NOTCH3 gene regions were analyzed via Sanger sequencing, and serum protein levels were measured using ELISA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Genetic analyses revealed that the novel NOTCH1 g.54305 T&gt;A variation (<i>p</i> = 0.0001), rs2133314984 (<i>p</i> = 0.015), and rs577451694 (<i>p</i> = 0.0012) variants were significantly associated with increased PCa risk. Additionally, the NOTCH3 rs746192089 variation was linked to disease risk (<i>p</i> = 0.0005), whereas the rs1044009 variant showed no statistically significant difference. Protein assessments showed that serum NOTCH1 concentrations were significantly lower in LPCa (<i>p</i> = 0.006) and MPCa (<i>p</i> = 0.003) groups than controls. Serum NOTCH3 levels were significantly decreased (<i>p</i> ≤ 0.002) in BPH, LPCa, and MPCa groups, with the lowest levels in the metastatic stage. Wild-type NOTCH1 g.54305 TT and NOTCH3 rs746192089 CC genotypes were associated with significantly higher serum protein expression than mutant-allele genotypes (<i>p</i> = 0.036 and <i>p</i> &lt; 0.001, respectively).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In conclusion, specific NOTCH1 and NOTCH3 variations are linked to disease risk, and decreased serum protein levels correlate with advanced clinical stages, providing insights into the Notch pathway's role in PCa pathogenesis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"40 19","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13483564/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148793908","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}

{"title":"Laboratory Identification of Pseudohypercalcemia Induced by Hyperglobulinemia in Multiple Myeloma: A Case Report","authors":"Anjiang Zhao,&nbsp;Fan Zhong,&nbsp;Yankui Liu,&nbsp;Guixing Li","doi":"10.1002/jcla.70342","DOIUrl":"10.1002/jcla.70342","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Pseudohypercalcemia is easily misdiagnosed in clinical practice, potentially leading to unnecessary interventions. Multiple myeloma (MM) presenting with concurrent hypergammaglobulinemia represents a rare etiology of pseudohypercalcemia, and there are few reports of systematic laboratory validation of this pathological entity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We report a patient with MM who presented with markedly elevated serum total calcium on routine biochemical testing. The hypercalcemia persisted despite 1 month of calcitonin therapy administered at an external hospital. After admission, the clinical laboratory team performed a panel of confirmatory assays, including direct ionized calcium measurement, post-dilution linearity evaluation, inductively coupled plasma mass spectrometry (ICP-MS) verification, and polyethylene glycol (PEG) precipitation testing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results and Conclusions</h3>\u0000 \u0000 <p>The results confirmed that the elevation in serum total calcium was attributed to enhanced calcium binding to circulating globulins, secondary to hypergammaglobulinemia, rather than analytical interference in the detection system. During clinical follow-up, serum total calcium levels normalized progressively in parallel with the decline in globulin levels following targeted anti-myeloma therapy. This case demonstrates that clinicians and laboratory professionals should maintain a high index of suspicion for pseudohypercalcemia when encountering patients with marked paraproteinemia or abnormal circulating macromolecules. A multimodal differential diagnostic approach using complementary laboratory indicators is warranted to avoid unnecessary examinations and interventions, thereby reducing the waste of medical resources and preventing potential adverse events associated with inappropriate treatment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"40 19","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13534993/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148874314","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}

{"title":"The Neutrophil-To-Lymphocyte Ratio as an Associated Biomarker of Diabetic Nephropathy in Type 2 Diabetes Mellitus","authors":"Yousef A. D. Alkhadem,&nbsp;Abdulmajeed A. A. Almaleki,&nbsp;Ali S. G. Alghamdi,&nbsp;Mohammed S. Al-Ghamdi,&nbsp;Mohammed H. Mukhtar,&nbsp;Ali B. Al-Zubaidy,&nbsp;Yahya Alsayaad","doi":"10.1002/jcla.70282","DOIUrl":"10.1002/jcla.70282","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Objective</h3>\u0000 \u0000 <p>Chronic low-grade inflammation drives the development and progression of type 2 diabetes mellitus (T2DM) and microvascular complications, including diabetic kidney disease. The neutrophil-to-lymphocyte ratio (NLR) is a routine hematological index reflecting systemic inflammatory activity. This study evaluated NLR's association with T2DM, glycemic control, and renal function in a Hodeidah City cohort, assessing renal function via the CKD-EPI creatinine equation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Continuous variables were expressed as medians (interquartile ranges) and analyzed using nonparametric tests. Associations were evaluated via Spearman correlation and exploratory linear regression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Primary comparisons revealed that T2DM patients possessed a significantly higher NLR than healthy controls, confirming a systemic inflammatory phenotype. Within the T2DM group, NLR did not differ significantly across HbA1c (<i>p</i> = 0.066) or eGFR categories (<i>p</i> = 0.328). However, NLR positively correlated with serum creatinine (Spearman <i>ρ</i> = 0.352, <i>p</i> = 0.022) and demonstrated an inverse, nonsignificant association with eGFR (<i>ρ</i> = −0.275, <i>p</i> = 0.078).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>NLR may serve as a practical adjunctive inflammatory biomarker in T2DM. Nevertheless, accurate clinical interpretation requires careful adjustment for renal function, comorbidities, and medication exposure. The absence of comprehensive data regarding the albumin-to-creatinine ratio (ACR), diabetes duration, and specific medication history limited multivariable confounder adjustment and complete nephropathy staging.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"40 19","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13592231/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149012182","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}

{"title":"RETRACTION: Correlation of Integrin Alpha 7 With Clinicopathological Characteristics and Survival Profiles, as Well as its Regulatory Role in Cell Proliferation, Apoptosis, and Stemness in Non-Small-Cell Lung Cancer","authors":"","doi":"10.1002/jcla.70361","DOIUrl":"10.1002/jcla.70361","url":null,"abstract":"<p><b>RETRACTION</b>: D. Xia, B. Chen, X. Yang, “Correlation of Integrin Alpha 7 With Clinicopathological Characteristics and Survival Profiles, as Well as its Regulatory Role in Cell Proliferation, Apoptosis, and Stemness in Non-Small-Cell Lung Cancer,” <i>Journal of Clinical and Laboratory Analysis</i> 33, no. 8 (2019): e22973, https://doi.org/10.1002/jcla.22973.</p><p>The above article, published online on 16 August 2019 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 has been agreed due to concerns raised by a third party that identified indications of compromised data and systematic issues within the published article, including inconsistencies related to patient recruitment. Furthermore, a panel in Figure 1A was found to have been used in another article in a different scientific context. The authors did not provide the requested documentation relating to ethics approval, patient informed consent, or the underlying raw data. Accordingly, the article is retracted as the editors have lost trust in the reliability of the data and the results presented. The authors have been informed of this decision but were not available for final confirmation.</p>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"40 19","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13598382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149025025","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}

{"title":"Performance Evaluation of Dry Chemical Colorimetry for Plasma Ammonia Detection on the VITROS 350 Chemistry System.","authors":"Jia Liu, Lin Wang, Yue Tang, Peiran Li, Lili Zhao, Wenwen Yuan, Bo Li, Boan Li","doi":"10.1002/jcla.70347","DOIUrl":"10.1002/jcla.70347","url":null,"abstract":"<p><strong>Objective: </strong>Plasma ammonia quantitation is one of the most valuable laboratory tests for assessing hepatic function. Accurate measurement is clinically imperative for the diagnosis and management of severe hepatobiliary diseases. This study aimed to comprehensively evaluate the analytical performance of the VITROS dry chemistry system with dry chemical colorimetry for plasma ammonia detection.</p><p><strong>Methods: </strong>A full performance validation was conducted on the VITROS 350 Chemistry System in accordance with the guidelines of the Clinical and Laboratory Standards Institute (CLSI) and the China National Accreditation Service for Conformity Assessment (CNAS). Comparability was performed using the VITROS 350 Chemistry System and VITROS 5600 Integrated System across our center and four external laboratories.</p><p><strong>Results: </strong>The VITROS 350 platform demonstrated robust analytical performance for plasma ammonia testing. Precision, accuracy, upper limit of the reportable interval, linearity, and carryover rates were all compliant with both clinical requirements and manufacturer specifications. Comparative analysis revealed strong inter-platform concordance, with results from five concentration levels across five laboratories remaining within predefined allowable limits. Regarding interference, only high concentrations of hemoglobin exerted a clinically significant impact on test results, a finding consistent with established clinical experience and diagnostic expectations.</p><p><strong>Conclusion: </strong>This study validates the reliability of the VITROS dry chemistry system for routine plasma ammonia testing. It provides clinical laboratories with a robust framework for method selection and establishes a framework for future external quality assessment (EQA) based on dry chemistry colorimetry.</p>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":" ","pages":"e70347"},"PeriodicalIF":2.5,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13662657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149182315","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}

{"title":"Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat","authors":"Ma. Guadalupe Domínguez-Quezada,&nbsp;Horacio Rivera,&nbsp;Luis E. Figuera,&nbsp;Patricio Barros-Núñez,&nbsp;José Luis Castrillo,&nbsp;Carlos Córdova-Fletes,&nbsp;Thania Alejandra Aguayo-Orozco","doi":"10.1002/jcla.70338","DOIUrl":"10.1002/jcla.70338","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Deletions involving the 1q43q44 region are among the most recurrent terminal chromosomal imbalances and are associated with a recognizable neurodevelopmental phenotype. These deletions may occur as isolated events or in the context of more complex rearrangements.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case Presentation</h3>\u0000 \u0000 <p>We describe presumed monozygotic twin sisters (patients 1 and 2) with a <i>de novo</i> 1q43q44 deletion and an unrelated patient (patient 3) carrying a similar deletion combined with a 21q22.3 duplication derived from a t(1;21)(q43;q22.3)mat. All three patients exhibited features consistent with the distal 1q43q44 deletion syndrome, including microcephaly, corpus callosum abnormalities, developmental delay, intellectual disability, language impairment, hypotonia, micro−/retrognathia, and congenital heart defects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Cytogenetics and FISH analyses confirmed distal 1q deletions in all patients. Chromosomal microarray analysis identified a ~9.5 Mb deletion in patient 1 (her twin was not tested) and a ~12.1 Mb deletion in patient 3. Despite differences in deletion size and genomic context, both rearrangements disrupted a largely overlapping interval containing 171 genes, including the dosage-sensitive neurodevelopmental genes <i>AKT3</i>, <i>HNRNPU</i>, and <i>ZBTB18</i> as well as other monoallelic expressed genes (<i>GREM2</i> and <i>NLRP3</i>) and, in patient 3 only, <i>RYR2</i>. Functional enrichment analyses highlighted pathways related to neurodevelopment, epilepsy, and cardiac function. Although the twins showed similar congenital manifestations, patient 1 later developed seizures whose origin could not be assessed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These findings further support the role of haploinsufficient genes within the distal 1q43q44 region, particularly <i>AKT3</i>, <i>HNRNPU</i>, and <i>ZBTB18</i>, to the core neurodevelopmental phenotype and highlight the value of high-resolution genomic analysis for patient characterization.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"40 19","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13478828/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148760231","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}