Journal of Clinical Laboratory Analysis最新文献

{"title":"Integrated Analysis of WES and scRNA-Seq Data Reveals the Genetic Basis of Immune Dysregulation in Unexplained Recurrent Pregnancy Loss","authors":"Zhao-Jing Lin,&nbsp;Lei Zhu,&nbsp;Yi Dong,&nbsp;Jiao Yun,&nbsp;Ya-Nan Zhi,&nbsp;Wei Zhang,&nbsp;Yan-Mei Sun,&nbsp;Yu-Jie Jiang,&nbsp;Shu Liu,&nbsp;Liang-Liang Fan,&nbsp;Ya-Li Li,&nbsp;Shuai Guo","doi":"10.1002/jcla.70011","DOIUrl":"10.1002/jcla.70011","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study aimed to identify genetic variants and their functional consequences underlying Unexplained Recurrent Pregnancy Loss (uRPL) through comprehensive genomic and transcriptomic analyses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We recruited 13 Chinese uRPL patients and performed Whole Exome Sequencing (WES) on chorionic villi samples from miscarriage tissues. Additionally, we conducted an integrative analysis using single-cell RNA sequencing data from decidual immune cells to examine expression patterns.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>WES analysis pinpointed variants in the four <i>MUC</i> genes (<i>MUC4</i>, <i>MUC6</i>, <i>MUC16</i>, and <i>MUC17</i>), six lipid metabolism genes in immune cells (<i>ABCA4</i>, <i>ABCA7</i>, <i>ABCB5</i>, <i>ABCC8</i>, <i>ADGRV1</i>, and <i>ANK3</i>), and two structural genes (<i>PIEZO1</i> and <i>PKD1</i>), whose variants impair mucosal barriers and lipid homeostasis, thereby leading to immune dysregulation and contributing to uRPL. To delve deeper into the effects of these genetic variants on cellular expression patterns, we undertook an integrative analysis using a single-cell dataset from decidual immune cells in uRPL cases. We observed significant dysregulation of lipid metabolism within immune cells, reduced heat shock protein expression, and enhanced chemokine signaling in uRPL samples, indicating a pro-inflammatory state.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In summary, our study reveals a complex interplay between genetic variants and immune cell dysfunctions in uRPL, emphasizing the role of identified genetic variants in driving pro-inflammatory states. These findings provide a comprehensive view of the molecular mechanisms underlying uRPL, opening paths for novel therapeutic interventions and improved clinical management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 6","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70011","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604831","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":"UFMylation Modulates OFIP Stability and Centrosomal Localization","authors":"Mulin Yang,&nbsp;Zihe Zhao,&nbsp;Jie Di,&nbsp;Dan Dong,&nbsp;Dengwen Li,&nbsp;Jie Ran","doi":"10.1002/jcla.70004","DOIUrl":"10.1002/jcla.70004","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>OFIP, also known as KIAA0753, is a centrosomal and pericentriolar satellite protein implicated in ciliogenesis, centriolar duplication, and microtubule stability. In humans, genetic mutations affecting OFIP have been implicated in the pathogenesis of Oral-Facial-Digital (OFD) Syndrome and Joubert Syndrome. Ubiquitin-fold Modifier 1 (UFM1), the most recently identified ubiquitin-like protein, is covalently transferred to its substrates, in a process known as UFMylation. This modification has recently emerged as a key regulator of various biological processes by altering their stability, activity, or localization.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The interaction between UFL1 and OFIP, as well as the UFMylation of OFIP, were assessed through immunoprecipitation and immunoblotting analyses. The mRNA levels of <i>OFIP</i> were examined using reverse transcription quantitative PCR (RT-qPCR). Immunofluorescence microscopy was employed to examine the localization and distribution patterns of OFIP.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our findings demonstrate that UFL1 interacts with OFIP both in vivo and in vitro. We also found that OFIP undergoes UFMylation, and UFL1 promotes the OFIP UFMylation. Mechanistic studies demonstrate that OFIP UFMylation inhibits its protein stability and maintains its proper centrosomal localization. However, the efficacy of these regulatory mechanisms varies significantly between different cell types, being notably pronounced in HeLa cells but markedly reduced in RPE1 cells.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>OFIP is identified as a novel substrate for UFMylation. UFL1-mediated OFIP UFMylation is essential for its stability and centrosomal localization in HeLa cells. However, these effects are not observed in RPE1 cells, highlighting cell type-specific heterogeneity in the role of OFIP UFMylation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 6","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585898","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":"Evaluation of SIRT1 Protein Levels and SIRT1/rs7895833 Distributions in Turkish Patients With Obstructive Sleep Apnea.","authors":"Metehan Yaman, Merve Nur Yıldız, Fatih Atilla Bağcı, Ceren Gümüş, Ahmet Ursavaş, Mehmet Karadağ, Dilek Pirim","doi":"10.1002/jcla.70014","DOIUrl":"https://doi.org/10.1002/jcla.70014","url":null,"abstract":"<p><strong>Objective: </strong>Obstructive Sleep Apnea (OSA) is a common heterogeneous sleep disorder that significantly impacts the sleep quality of individuals and leads to severe complications. Patients with OSA often experience disrupted circadian rhythm, hyperactive hypoxia response, and endothelial dysfunction, yet the underlying molecular mechanism remains poorly known. Recent research suggests promising evidence of the potential role of SIRT1 in the etiology of OSA, warranting further investigation.</p><p><strong>Methods: </strong>We investigated the associations of the SIRT1 promoter variant (rs7895833A > G) with OSA severity in 199 individuals who underwent an overnight polysomnography at the sleep clinic.</p><p><strong>Results: </strong>The minor allele frequency was observed as 0.309 in males (n = 149) and 0.310 in females (n = 50). No significant associations were observed between genotypes and apnea-hypopnea index (AHI) in the entire sample. However, we observed a significant association (p = 0.034) between the rs7895833-G and the severity of OSA in females stratified by AHI. Additionally, we found statistically significant inverse correlations between age and SIRT1 protein levels in the total sample (p = 0.013) and the male group (p = 0.018), suggesting a potential age-related expression of SIRT1. Our analysis also confirmed the published literature, showing correlations between the AHI and clinical parameters such as age, BMI, Epworth sleepiness scale, and neck circumference.</p><p><strong>Conclusions: </strong>Overall, SIRT1 may indirectly affect OSA pathogenesis, which might be influenced by gender. Further detailed analysis involving large population-based biobanks, especially focusing on gender-based differences, will improve our understanding of the role and potential of SIRT1 in OSA management.</p>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":" ","pages":"e70014"},"PeriodicalIF":2.6,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585896","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":"All Properties of Infertility Microbiome in a Review Article","authors":"Zahra Elahi,&nbsp;Maryam Mokhtaryan,&nbsp;Shiva Mahmoodi,&nbsp;Soheila Shahroodian,&nbsp;Taleih Darbandi,&nbsp;Fatemeh Ghasemi,&nbsp;Roya Ghanavati,&nbsp;Atieh Darbandi","doi":"10.1002/jcla.25158","DOIUrl":"10.1002/jcla.25158","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The microbiome is crucial for many physiological processes, including immunity, metabolism, and reproduction.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>This review aims to contribute to a detailed understanding of the microbiome of the genital tract, which can lead to better management of dysbiosis and reproductive disorders.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data from the four international information databases Medline, Scopus, Embase, and Google Scholar. The search strategy was based on the combination of the following terms: “microbiota,” “microbiome,” “microfilm,” “microflora,” “fertility,” or “infertility.”</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Result</h3>\u0000 \u0000 <p>The advent of next-generation sequencing-based technologies during the last decade has revealed the presence of microbial communities in nearly every part of the human body, including the reproductive system. Several studies have shown significant differences between the microbiota of the vagina and endometrium, as well as other parts of the upper genital tract.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>The human microbiome plays a critical role in determining a person's health state, and the microbiome of the genital tract may impact fertility potential before and after assisted reproductive treatments (ARTs).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>To completely understand the role of the microbiome, future research should focus not only on the description of microbiota but also on the interaction between bacteria, the production of biofilms, and the interaction of microorganisms with human cells.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 6","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25158","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585893","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":"Analytical and Clinical Validation of Solo-Test Driver: A Targeted Amplicon-Based NGS Test-System for FFPE and cfDNA Analysis in Clinical Oncology Setting","authors":"Maxim Ivanov,&nbsp;Alexandra Lebedeva,&nbsp;Ekaterina Belova,&nbsp;Tatiana Grigoreva,&nbsp;Egor Veselovsky,&nbsp;Alexandra Kavun,&nbsp;Anastasiia Taraskina,&nbsp;Olesya Kuznetsova,&nbsp;Vladislav Nikulin,&nbsp;Laima Belyaeva,&nbsp;Daria Kravchuk,&nbsp;Tatyana Lisitsa,&nbsp;Alexey Barinov,&nbsp;Natalia Pospekhova,&nbsp;Saida Aliyarova,&nbsp;Ekaterina Khomenko,&nbsp;Alexey Tryakin,&nbsp;Irina Demidova,&nbsp;Anna Stroganova,&nbsp;Mikhail Fedyanin,&nbsp;Vladislav Mileyko","doi":"10.1002/jcla.70008","DOIUrl":"10.1002/jcla.70008","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Next-generation sequencing (NGS) is increasingly integrated into cancer patient management, necessitating cost-effective, reliable tests for companion diagnostics. We present the validation of the Solo-test Driver panel, a custom NGS amplicon-based tool for DNA analysis of 34 oncogenes, addressing key clinical needs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The panel's performance was validated for detecting SNVs, CNVs, and MSI. Analytical validation used 182 samples, while clinical validation involved 130 samples, both encompassing diverse tumor types and specimen formats.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The Solo-test Driver panel has the potential to identify an additional 18.3%, 16.5%, and 8.7% of RAS+ colorectal, PIK3CA+ breast, and EGFR+ lung cancer patients, respectively, when compared to FDA-approved PCR tests. Analytical validation demonstrated high intra-lab robustness (coefficient of variation of coverage uniformity 6.4%) and high inter-lab robustness (PCC of per-amplicon coverage 0.82, 0.84, 0.9 for three different labs). Estimated in silico sensitivity was 100% for detecting clinically actionable SNVs at 250x, corresponding to only 60,000 read pairs per sample. In vitro mixing experiments determined LoD starting from 3.3% VAF. Estimated in silico LoD ranged from 0.5% to 5% at 1000× (1% to 5% at 650x). Clinical validation demonstrated PPA/NPA of 100%/80%, 95%/100%, and 100%/100% for detecting MSI, SNVs, and CNVs, respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The Solo-test Driver panel offers a reliable, cost-effective solution for detecting somatic alterations and genomic signatures, making it suitable for routine companion diagnostics in solid tumors.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 6","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143582294","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":"V-PRO Blood Collection Tubes: Validation for Clinical Chemistry and Immunoassay Tests","authors":"Anwar Borai,&nbsp;Wedyan Alsharif,&nbsp;Amirah Alhindi,&nbsp;Maha Alqahtani,&nbsp;Mohieldin Elsayid,&nbsp;Haitham Khalil,&nbsp;Salwa Al Marwani,&nbsp;Abobaker Yagoot,&nbsp;Janet Magjacot,&nbsp;Maha Al Meteiri,&nbsp;Rawan Alyamani,&nbsp;Hind Abdulhakim,&nbsp;Majid Al-Thaqafy","doi":"10.1002/jcla.70007","DOIUrl":"10.1002/jcla.70007","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>In accredited laboratories, each component of diagnostic products—such as laboratory instruments, reagents, and blood collection tubes must be validated before integration into routine patient testing. BD Vacutainers are commonly used in clinical laboratories compared to other blood collection tubes, while V-PRO tubes have recently been introduced to the market without prior laboratory validation. This study compares V-PRO tubes to BD Vacutainers to assess the validity of using V-PRO tubes for blood testing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>Blood samples were collected simultaneously into two different brands of tubes (V-PRO and BD) from 60 subjects. A standardized procedure was employed for sample collection, and analysis. A total of 28 chemistry tests and 20 immunoassays were analyzed using Abbott instruments, while high-performance liquid chromatography was used for testing glycated hemoglobin. The biases of V-PRO compared to BD were evaluated against current desirable quality specifications for bias derived from biological variation. For technical validation, a designated survey was distributed to various institutes using both tube types in their laboratories.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The V-PRO tube exhibited biases exceeding the desirable limits for CO₂ (3.2%), magnesium (2.0%), thyroid-stimulating hormone (11.7%), and estradiol (−8.5%). Survey results indicated a higher percentage of major pre-analytical, analytical, and post-analytical errors when using the V-PRO tube compared to the BD Vacutainer.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Laboratories currently using BD vacutainers should exercise caution if they intend to perform chemistry and immunoassay tests with V-PRO tubes. The technical validation outcomes for V-PRO were not acceptable due to significant faults identified in comparison to BD Vacutainer.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 6","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70007","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556989","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 Diagnostic Value of Interleukin-2 and Interferon-γ Induced by Fusion Protein (ESAT-6/CFP-10/Rv1985c) for Active Mycobacterium tuberculosis Infection","authors":"Zhipeng Zhao,&nbsp;Runqing Li,&nbsp;Xiuying Zhao,&nbsp;Yujie Wang,&nbsp;Minggui Lin,&nbsp;Qian Wei,&nbsp;Xiaochen Li,&nbsp;Pan Xiong","doi":"10.1002/jcla.70010","DOIUrl":"10.1002/jcla.70010","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study aimed to evaluate the diagnostic ability of interleukin 2 (IL-2) and interferon gamma (IFN-γ) release assay induced by the fusion protein (ESAT-6/CFP-10/Rv1985c) for detecting active tuberculosis (ATB) in clinically visiting patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A total of 970 subjects (215 in ATB group and 755 in non-ATB group) underwent both an interferon-γ release assay (IGRA) and a TB-DNA PCR assay. Using clinical diagnosis as the gold standard, both qualitative and quantitative test results for IL-2 and IFN-γ were analyzed. Subsequently, the diagnostic ability of IL-2 and IFN-γ to screen for ATB among the high-risk population was then evaluated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>IL-2 exhibited higher specificity, while IFN-γ demonstrated higher sensitivity in distinguishing between ATB and non-ATB subjects. The sensitivity of the serial application of IL-2 and IFN-γ had no significant difference (<i>p</i> = 1.000) compared with IFN-γ; the specificity of the serial application of IL-2 and IFN-γ had no significant difference (<i>p</i> = 0.708) compared with IL-2. Quantitative analysis of the results revealed that the IL-2 and IFN-γ values were significantly higher in the ATB group compared with the non-ATB group. Additionally, the combined predictors of IL-2 and IFN-γ did not show a significant difference compared with IL-2 alone (<i>p</i> = 0.324) or IFN-γ alone (<i>p</i> = 0.405).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study demonstrated that IL-2 and IFN-γ release assays induced by the fusion protein (ESAT-6/CFP-10/Rv1985c) were valuable for distinguishing ATB from non-ATB subjects, with IL-2 exhibiting higher specificity and IFN-γ demonstrating higher sensitivity.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 5","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523388","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":"Reference Interval Establishment for Neutrophil-To-Lymphocyte Ratio, Platelet-To-Lymphocyte Ratio, and Systemic Immune-Inflammation Index in Athletes: Analysis of Sex and Sport Type Impact","authors":"Cong Wang,&nbsp;Zhengmei Ning,&nbsp;Qi Lu,&nbsp;Jianya Huang,&nbsp;Guoqing Yuan,&nbsp;Junfei Chen,&nbsp;Gang Liu","doi":"10.1002/jcla.70005","DOIUrl":"10.1002/jcla.70005","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To establish sex- and sport-specific reference intervals (RIs) for the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and systemic immune-inflammation index (SII) in athletes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A retrospective study analyzed 13,647 entries from elite athletes (2018–2024), categorized by sex and six sport types. RIs were developed using a training set (9555 entries) and validated with a separate set (4092 entries). The RIs were defined using the 2.5th and 97.5th percentiles of the distribution.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Females had higher RIs compared to males: NLR (females: 1.53 [0.74, 3.25]; males: 1.36 [0.70, 2.89]), PLR (females: 124 [69, 223]; males: 111 [65, 188]), and SII (females: 347 [146, 804]; males: 298 [139, 684]) (<i>p</i> &lt; 0.001). Sport type influenced RIs, with significant differences noted across categories (<i>p</i> &lt; 0.001). Validation showed an outlier rate below 10% across all groups, confirming robustness.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These sex- and sport-specific RIs enhance the precision of health assessments, supporting early detection of overtraining and inflammation in athletes. Future studies should expand to diverse populations and consider factors like age and training cycles.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 5","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458257","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":"Association of P2RY12 Gene Variants and Non-Genetic Factors With Clopidogrel Responsiveness in Vietnamese Patients After Percutaneous Coronary Intervention: A Cross-Sectional Study","authors":"Hoang Ta Anh,&nbsp;Toan Nguyen Duy,&nbsp;Thanh Bui Duc,&nbsp;Tong Hoang Van,&nbsp;Oanh Nguyen Oanh,&nbsp;Thuc Luong Cong,&nbsp;Cam Truong Dinh","doi":"10.1002/jcla.70003","DOIUrl":"10.1002/jcla.70003","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Clopidogrel response varies significantly among individuals due to multiple influencing factors. This study aimed to investigate the associations between <i>P2RY12</i> gene variants, non-genetic factors, and platelet aggregation in patients undergoing clopidogrel therapy and percutaneous coronary intervention.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a cross-sectional descriptive study involving 171 patients who successfully underwent coronary artery stenting and were treated with clopidogrel at two military hospitals in Vietnam. Platelet aggregation was assessed using the light transmission aggregometry (LTA) method, with clopidogrel resistance (CR) defined as maximal platelet aggregation &gt; 50%. <i>P2RY12</i> genetic polymorphisms (C34T-rs6785930 and G52T-rs6809699) were genotyped using Sanger sequencing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The allele frequencies were 74.56% (<i>C</i>) and 25.44% (<i>T</i>) for <i>P2RY12</i> C34T, and 88.30% (<i>G</i>) and 11.70% (<i>T</i>) for <i>P2RY12</i> G52T. Platelet aggregation progressively increased across the <i>GG</i>, <i>GT</i>, and <i>TT</i> genotypes of <i>P2RY12 G52T</i> (<i>p</i> = 0.03), with patients carrying the <i>TT</i> genotype exhibiting significantly higher platelet aggregation compared to other genotypes (<i>p</i> = 0.01). Among non-genetic factors, proton pump inhibitor (PPI) intake was associated with a significant increase in platelet aggregation (<i>p</i> = 0.03). The prevalence of clopidogrel resistance (CR) was 43.86%. Multivariate logistic regression analysis identified the <i>T</i> allele of <i>P2RY12 C34T</i>, reduced estimated glomerular filtration rate (eGFR), and PPI intake as significant risk factors for CR (OR = 2.24, 2.49, 4.01; <i>p</i> = 0.02, 0.049, 0.01, respectively).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The T allele of <i>P2RY12</i> C34T was associated with an increased risk of CR. Among non-genetic factors, PPI intake significantly elevated platelet aggregation and, along with reduced eGFR, contributed to a higher risk of CR.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 5","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143382580","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":"Improving the Diagnosis and Follow-Up of Chronic Myeloid Leukemia Using Conventional and Molecular Techniques","authors":"Noor Al-Huda A. Bahar,&nbsp;Mushtak T. S. Al-Ouqaili,&nbsp;Nabeel M. Talib","doi":"10.1002/jcla.70001","DOIUrl":"10.1002/jcla.70001","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The Philadelphia chromosome (Ph) represented a finding of chronic myeloid leukemia (CML) in most cases which formed from t (9; 22) (q34; q11) resulting in the Breakpoint cluster region-Abelson tyrosine-protein kinase1 (BCR-ABL1) fusion gene. Assuming CCE's inaccuracies in diagnosing CML and FISH's limitations with low BCR-ABL1 percentages, a Predicted-FISH (Pred-FISH) was developed. This model predicts treatment response during follow-up by integrating qRT-PCR results, White Blood Cell (WBC) counts, and Cytogenetic Response data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Quantitative Real-Time Polymerase Chain Reaction Analysis (qRT-PCR), fluorescence in situ hybridization (FISH), and Conventional Cytogenetic Examination (CCE or Karyotyping) have been used in the detection and follow-up of CML patients. The study included 110 individuals, divided into three groups: 31.82% (35 individuals) were newly diagnosed CML patients, another 22.73% (25 individuals) were healthy control samples, and the remaining 45.45% (50 individuals) were previously diagnosed CML patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Include BCR-ABL1 fusion gene levels detected by qRT-PCR, Ph chromosome presence t (9; 22) (q34; q11) observed by CCE, and WBC counts. The FISH test, used to confirm disease in new patients before treatment, was compared to CCE results due to its insensitivity in certain conditions. Data from CCE, FISH, qRT-PCR, and WBC for newly diagnosed patients provided a standard for evaluating the Predicted-FISH.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The FISH technique excels in disease detection with over 98% accuracy and high sensitivity. QRT-PCR is effective for monitoring CML and BCR-ABL1 gene levels, indicating MMR and DMR. CCE, while useful for posttreatment monitoring, is less accurate in measuring treatment response over time.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 5","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.70001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143382585","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}