Clinica Chimica Acta最新文献

{"title":"Liquid biopsies and exosomal ncRNA: Transforming pancreatic cancer diagnostics and therapeutics","authors":"Ashok Kumar Balaraman ,&nbsp;Ehssan Moglad ,&nbsp;Muhammad Afzal ,&nbsp;M Arockia Babu ,&nbsp;Kavita Goyal ,&nbsp;R. Roopashree ,&nbsp;Irwanjot Kaur ,&nbsp;Sachin Kumar ,&nbsp;MRavi Kumar ,&nbsp;Ashish Singh Chauhan ,&nbsp;S. Hemalatha ,&nbsp;Gaurav Gupta ,&nbsp;Haider Ali","doi":"10.1016/j.cca.2024.120105","DOIUrl":"10.1016/j.cca.2024.120105","url":null,"abstract":"<div><div>Pancreatic cancer is a highly fatal malignancy due to poor early detection rate and resistance to conventional therapies. This review examines the potential for liquid biopsy as a transformative technology to identify diagnostic and therapeutic targets in pancreatic cancer. Specifically, we explore emerging biomarkers such as exosomal non-coding RNAs (ncRNAs), circulating tumor DNA (ctDNA), and circulating tumor cells (CTCs). Tumor-derived exosomes contain nucleic acid and protein that reflect the unique molecular landscape of the malignancy and can serve as an alternative diagnostic approach vs traditional biomarkers like CA19-9. Herein we highlight exosomal miRNAs, lncRNAs, and other ncRNAs alongside ctDNA and CTC-based strategies, evaluating their combined ability to improve early detection, disease monitoring and treatment response. Furthermore, the therapeutic implications of ncRNAs such as lncRNA UCA1 and miR-3960 in chemoresistance and progression are also discussed via suppression of EZH2 and PTEN/AKT pathways. Emerging therapeutic strategies that target the immune response, epithelial-mesenchymal transition (EMT) and drug resistance are explored. This review demonstrates a paradigm shift in pancreatic cancer management toward personalized, less invasive and more effective approaches.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"567 ","pages":"Article 120105"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Circulating microRNAs and physical activity: Impact in diabetes","authors":"Xiu Li ,&nbsp;Jamal Hallajzadeh","doi":"10.1016/j.cca.2025.120178","DOIUrl":"10.1016/j.cca.2025.120178","url":null,"abstract":"<div><div>The term “ci-miRNAs,” or “circulating microRNAs,” refers to extracellular microRNAs (miRNAs) that exist outside of cells and can be detected in various bodily fluids, including blood, saliva, urine, and breast milk. These ci-miRNAs play a role in regulating gene expression and are mainly recognized for their functions beyond the cell, serving as signaling molecules in the blood. Researchers have thoroughly investigated the roles of these circulating miRNAs in various diseases. The capacity to detect and quantify ci-miRNAs in bodily fluids suggests their potential as biomarkers for monitoring several health conditions, including cancer, heart disease, brain disorders, and metabolic disorders, where fluctuations in miRNA levels may correlate with different physiological and pathological states. Current methods enable researchers to identify and measure miRNAs in these fluids, facilitating the exploration of their roles in health maintenance and disease resistance. Although research on ci-miRNAs is ongoing, recent studies focus on uncovering their significance, assessing their viability as biomarkers, and clarifying their functions. However, our understanding of how various types, intensities, and durations of exercise influence the levels of these miRNAs in the bloodstream is still limited. This section seeks to provide an overview of the changes in ci-miRNAs in response to exercise.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"569 ","pages":"Article 120178"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143122487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artificial intelligence aided serum protein electrophoresis analysis of Finnish patient samples: Retrospective validation","authors":"Tapio Lahtiharju ,&nbsp;Lassi Paavolainen ,&nbsp;Janne Suvisaari ,&nbsp;Pasi Nokelainen ,&nbsp;Emmi Rotgers ,&nbsp;Mikko Anttonen ,&nbsp;Outi Itkonen","doi":"10.1016/j.cca.2024.120086","DOIUrl":"10.1016/j.cca.2024.120086","url":null,"abstract":"<div><h3>Background and aims</h3><div>Serum protein electrophoresis interpretation requires a substantial amount of manual work. In 2020, Chabrun <em>et al.</em> created a machine learning method called SPECTR for the task. We aimed to validate and test the SPECTR method against our results of more precise immunofixation electrophoresis.</div></div><div><h3>Materials and methods</h3><div>We gathered 34 625 patients and their first serum protein electrophoresis sample in Helsinki University Hospital. We trained three neural network models: (1) a fractionation model to fractionate electropherograms; (2) a classification model to classify samples to normal, ambiguous, and abnormal (<em>i.e.</em> containing paraprotein); (3) an integration model to predict concentration and location of paraproteins.</div></div><div><h3>Results</h3><div>The fractionation model demonstrated an error rate of ≤0.33 g/L in 95 % samples. The classification model achieved an area under the curve of 97 % in receiver operating characteristic analysis. The integration model demonstrated a coefficient of determination (R²) of 0.991 and a root-mean-square error of 1.37 g/L in linear regression.</div></div><div><h3>Conclusion</h3><div>The neural network models proved to be suitable for partial automation in serum protein electrophoresis reporting, <em>i.e.</em> classification of normal electropherograms. Furthermore, the models can accurately suggest the location and concentration of paraproteins.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"567 ","pages":"Article 120086"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recommendations for assessing commutability of a replacement batch of a secondary calibrator certified reference material","authors":"Liesbet Deprez ,&nbsp;Jesper V. Johansen ,&nbsp;Thomas Keller ,&nbsp;Jeffrey Budd ,&nbsp;Neil Greenberg ,&nbsp;Cas Weykamp ,&nbsp;Sverre Sandberg ,&nbsp;Mauro Panteghini ,&nbsp;Ferruccio Ceriotti ,&nbsp;Elizabeth Barczak ,&nbsp;Robert Rej ,&nbsp;Pernille Kjeilen Fauskanger ,&nbsp;Finlay MacKenzie ,&nbsp;Johanna E. Camara ,&nbsp;Alicia N. Lyle ,&nbsp;W.Greg Miller ,&nbsp;Vincent Delatour","doi":"10.1016/j.cca.2024.120097","DOIUrl":"10.1016/j.cca.2024.120097","url":null,"abstract":"<div><div>Commutable secondary certified reference materials (CRMs) play an essential role in the calibration hierarchy of many in-vitro diagnostic measurement procedures used in the medical laboratory. Therefore, sustainable availability of these CRMs is crucial to guarantee the long-term equivalence of results obtained for the clinical samples. The IFCC Working Group on Commutability in Metrological Traceability (WG-CMT) has published several recommendations for assessing the commutability of secondary calibrator CRMs. Performing a full commutability study according to these recommendations may present significant demands on the resources of CRM producers.</div><div>This report provides recommendations for performing commutability equivalence assessments between existing CRMs of proven commutability and replacement batches of those CRMs. The approach evaluates the relationship of measurement results obtained with the relevant measurement procedures for the replacement batch versus the existing CRM batch. If this relationship is the same, the commutability properties of the replacement batch are considered equivalent to those of the existing CRM batch. Since the existing batch has a suitable commutability, the commutability of the replacement batch is also declared fit for purpose. Because this commutability equivalence assessment involves certain risks, a small number of representative clinical samples are included as safeguards.</div><div>There are several prerequisites for performing the commutability equivalence assessment and producers of secondary CRMs will probably need to implement improvements before using this approach. However, once the improvements are implemented, the commutability equivalence assessment approach will significantly reduce the resources needed to maintain the supply of CRMs.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"567 ","pages":"Article 120097"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11757154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Crispr-cas biosensing for rapid detection of viral infection","authors":"Yuting Qiu ,&nbsp;Shiyu Chen ,&nbsp;Juezhuo Li ,&nbsp;Dong-ang Liu ,&nbsp;Ruiyao Hu ,&nbsp;Yue Xu ,&nbsp;Keyi Chen ,&nbsp;Jinghua Yuan ,&nbsp;Xinling Zhang ,&nbsp;Xiaoping Li","doi":"10.1016/j.cca.2024.120071","DOIUrl":"10.1016/j.cca.2024.120071","url":null,"abstract":"<div><div>With the frequent outbreaks of viral diseases globally, accurate and rapid diagnosis of viral infections is of significant importance for disease prevention and control. The CRISPR-Cas combined biosensing strategy, as an emergent nucleic acid detection technology, exhibits notable advantages including high specificity, elevated sensitivity, operational simplicity, and cost-effectiveness, thereby demonstrating significant potential in the domain of rapid viral diagnostics. This paper summarizes the principles of the CRISPR-Cas system, the novel biotechnologies, and the latest research progress in virus detection using the combined biosensing strategy. Additionally, this paper discusses the challenges faced by CRISPR-Cas biosensing strategies and outlines future development directions, which provides a reference for further research and clinical applications in the rapid diagnosis of viral infections.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"567 ","pages":"Article 120071"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quality control frequency: Unleashing the truth","authors":"Hikmet Can Çubukçu","doi":"10.1016/j.cca.2024.120068","DOIUrl":"10.1016/j.cca.2024.120068","url":null,"abstract":"<div><h3>Objectives</h3><div>This study investigates the optimal number of quality control (QC) events per day in two scenarios: high-sensitive troponin, requiring three levels of QC materials, and creatinine, with two levels. The aim is to explore how different QC rules and sigma metric values affect the frequency of QC events, considering both analytical performance and the clinical impact of potential measurement errors as severity of harm<strong>.</strong></div></div><div><h3>Methods</h3><div>Risk-based QC calculations were performed using the QC Constellation tool. Four QC rule schemes (1–3 s, 1–3 s/2–2 s, 1–3 s/2–2 s/R-4 s, 1–3 s/2–2 s/R-4 s/4–1 s) were tested for high-sensitive troponin (catastrophic harm) and creatinine (serious harm). Sigma metric values from 3 to 6 were evaluated to determine maximum run sizes. QC event frequency was estimated for a hypothetical laboratory processing 1,000 samples daily.</div></div><div><h3>Results</h3><div>Maximum run sizes decreased as sigma metric values declined. Correspondingly, the number of QC events per day increased as sigma metric values decreased. For high-sensitive troponin, with its catastrophic severity of harm related to potantial error, more frequent QC was necessary compared to creatinine.</div></div><div><h3>Conclusions</h3><div>Analytical performance and severity of harm significantly influence the required frequency of QC events. Laboratories must consider both factors when designing QC strategies to balance patient safety with operational efficiency. For analytes with high severity of harm, achieving higher sigma metrics is critical to maintain feasible and cost-effective QC practices. A hybrid QC approach combining risk-based and patient-based methods may optimize QC strategies, but standardization of sigma metric calculations is still needed.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"567 ","pages":"Article 120068"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DUPAN-2 in pancreatic cancer: Systematic review and meta-analysis","authors":"Xiaowen Gong ,&nbsp;Yuerong Xuan ,&nbsp;Chengshuai Pang,&nbsp;Chenyang Dong,&nbsp;Rui Cao,&nbsp;Zhigang Wei,&nbsp;Chaojie Liang","doi":"10.1016/j.cca.2024.120080","DOIUrl":"10.1016/j.cca.2024.120080","url":null,"abstract":"<div><h3>Objective</h3><div>Pancreatic cancer (PC) is a highly aggressive malignancy with poor prognosis and high mortality rate. Identifying reliable biomarkers for the early diagnosis and treatment is urgently needed. This study aims to comprehensively evaluate the diagnostic and prognostic value of DUPAN-2 in PC through a <em>meta</em>-analysis.</div></div><div><h3>Methods</h3><div>We systematically searched PubMed, Embase, and other databases for studies related to DUPAN-2 and its prognostic and diagnostic relevance in PC, covering publications up to August 2024. We used pooled hazard ratios (HRs) to evaluate the prognostic value of DUPAN-2 in PC, the summary receiver operating characteristic (SROC) curve and the area under the curve (AUC) to assess diagnostic performance, while pooled odds ratios (ORs) analyzed associations with clinicopathological features.</div></div><div><h3>Results</h3><div>A total of 22 studies involving 4765 patients were included in this <em>meta</em>-analysis, with 11 studies focusing on diagnostic analysis, 10 on prognostic analysis, and 3 on clinicopathological features. The diagnostic <em>meta</em>-analysis revealed a pooled sensitivity of 0.63 (95 % CI: 0.56–0.69), a pooled specificity of 0.98 (95 % CI: 0.95–0.99), and an AUC of 0.83 (95 % CI: 0.79–0.86). Subgroup analysis indicated that a DUPAN-2 threshold at 150 U/mL achieved the highest diagnostic performance. The prognostic <em>meta</em>-analysis demonstrated that elevated DUPAN-2 levels were associated with poorer OS (HR = 1.70, 95 % CI: 1.36–2.14) and PFS (HR = 1.33, 95 % CI: 1.14–1.56). Additionally, the clinicopathological features <em>meta</em>-analysis showed that elevated DUPAN-2 levels were associated with vascular invasion (OR = 3.48, 95 % CI: 1.26–9.59), while normalized DUPAN-2 levels were associated with higher resectability (OR = 0.57, 95 % CI: 0.36–0.90) and lower N-stage (OR = 0.39, 95 % CI: 0.24–0.63)</div></div><div><h3>Conclusion</h3><div>Serum DUPAN-2 demonstrates significant potential as a biomarker for diagnosis and prognosis in patients with PC.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"567 ","pages":"Article 120080"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development and validation of a multiplex chip-based droplet digital PCR method for detecting CNVs in 7q11.2 and 22q11.2 regions","authors":"Tianjiao Li ,&nbsp;Kunlun Yin ,&nbsp;Yue Yang ,&nbsp;Sirui Zhou ,&nbsp;Fengming Luo ,&nbsp;Wenke Li ,&nbsp;Kun Zhao ,&nbsp;Bianmei Han ,&nbsp;Xuewen Liu ,&nbsp;Wen Chen","doi":"10.1016/j.cca.2024.120100","DOIUrl":"10.1016/j.cca.2024.120100","url":null,"abstract":"<div><div>Copy number variations (CNVs) in the 7q11.2 and 22q11.2 chromosomal regions are major contributors to genetic disorders such as Williams-Beuren syndrome and 22q11.2 deletion/duplication syndromes. These disorders are characterized by facial anomalies, growth retardation, intellectual disabilities, and lethal cardiovascular abnormalities. Despite the development and clinical application of various rapid molecular tests, each has significant limitations. We developed a multiplex chip-based droplet digital PCR (ddPCR) method for detecting microdeletions and microduplications in the 7q11.2 and 22q11.2 regions. We evaluated its linearity and reproducibility and tested it on 100 clinical patients with congenital heart defects to further verify its clinical applicability. We successfully developed a method capable of simultaneously detecting four types of CNVs in a single assay, demonstrating high accuracy and reproducibility. Compared to traditional methods, our approach depicted 100% concordance for positive and negative results. Additionally, our method accurately quantified target gene concentrations, allowing for precise evaluation of CNVs in the target regions. This study introduces a rapid, technically straightforward, and efficient quantitative chip-based ddPCR method for the detailed classification of CNVs in the 7q11.2 and 22q11.2 regions. Our findings indicated that chip-based ddPCR can be seamlessly implemented as a first-line screening tool in routine diagnostics.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"567 ","pages":"Article 120100"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinicopathological characteristics of patients with low titer anti-phospholipase A2 receptor antibodies verified by indirect immunofluorescence assay","authors":"Hao-yuan Cui ,&nbsp;Chao Li ,&nbsp;Yu-bing Wen,&nbsp;Wei Ye,&nbsp;Wen-ling Ye,&nbsp;Hang Li,&nbsp;Li-meng Chen","doi":"10.1016/j.cca.2024.120070","DOIUrl":"10.1016/j.cca.2024.120070","url":null,"abstract":"<div><h3>Objective</h3><div>Laboratory extensively applied enzyme-linked immunosorbent assay (ELISA) to measure anti-phospholipase A2 receptor antibodies (PLA2R-abs) since its diagnostic significance on PLA2R related primary membranous nephropathy (PLA2R-related pMN) was discovered. However, PLA2R-abs determined by ELISA (PLA2R-ELISA) could infrequently yield inconclusive results, specifically a grey-zone defined as PLA2R-abs ranging from 2 to 20 RU/mL. Recently, researchers suggested that double-check grey-zone PLA2R-abs by indirect immunofluorescence (IIF) could improve diagnostic accuracy. We evaluated the diagnostic performance of PLA2R-IIF in assessing PLA2R-related pMN and summarized clinicopathological characteristics of grey-zone population to provide more evidence for clinical practice.</div></div><div><h3>Methods</h3><div>Data on demographics, serology and pathology of patients with PLA2R-ELISA grey-zone results and a native kidney biopsy at Peking Union Medical College Hospital from September 2020 to April 2023 were reviewed. Grey-zone samples were analyzed using PLA2R-IIF. Negative results were defined as no fluorescence and positive results were graded according to fluorescence intensity.</div></div><div><h3>Results</h3><div>This study included a total of 52 grey-zone patients divided into pMN group (n = 36, 69 %) and non-pMN group (n = 16, 31 %) according to renal pathology reports. The pMN patients had higher PLA2R-abs and lower serum creatinine compared to the non-pMN patients (<em>P</em> = 0.003, <em>P</em> &lt; 0.001). No statistically significant differences were observed in 24-hour urine protein and albumin between the two groups. Multiple pathological types were identified in the non-pMN group. The sensitivity and specificity of PLA2R-IIF in PLA2R-ELISA grey-zone population were 72 % and 88 %, respectively, with a total consistent rate of 77 % and a positive predictive value of 93 %.</div></div><div><h3>Conclusion</h3><div>Both pMN and non-pMN patients presented grey-zone PLA2R-ELISA results. It was necessary to perform PLA2R-IIF to assist in the diagnosis of patients with PLA2R-ELISA grey-zone results.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"567 ","pages":"Article 120070"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142779471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive analysis of chromosome abnormalities by chromosome conformation based karyotyping (C-MoKa) in patients with conception failure and pregnancy loss","authors":"Xiao Bao ,&nbsp;Yuxia Yang ,&nbsp;Wenbin Niu ,&nbsp;Yimin Wang ,&nbsp;Hao Shi ,&nbsp;Yangyun Zou ,&nbsp;Yidong Liu ,&nbsp;Cheng Wan ,&nbsp;Jun Ren ,&nbsp;Sijia Lu ,&nbsp;Yingpu Sun","doi":"10.1016/j.cca.2024.120089","DOIUrl":"10.1016/j.cca.2024.120089","url":null,"abstract":"<div><h3>Background</h3><div>Chromosome abnormalities are a leading cause of conception failure and pregnancy loss. While traditional cytogenetics technologies like karyotyping have been helpful in identifying structural variations (SVs), they face challenges in detecting complex rearrangements and cryptic structures. In this study, we developed a new method called chromosome conformation based karyotyping (C-MoKa) to comprehensively detect different types of chromosomal abnormalities in patients with conception failure and pregnancy loss.</div></div><div><h3>Methods</h3><div>A total of 70 clinical samples exhibiting known results of SVs, mosaic aneuploidies, copy number variations （CNVs） and uniparental disomy (UPD) were included in our cohort and underwent C-MoKa analysis. The results obtained from different techniques, including karyotyping, CNV-seq, and CMA were compared and analyzed.</div></div><div><h3>Results</h3><div>Distinct chromosomal conformation patterns of various variations were observed and analyzed in clinical samples. Our C-MoKa method not only validated all the findings of karyotyping, CNV-seq and CMA, but also provided more detailed results. It demonstrated superior fragment resolution (&lt;500 Kb) and more precise breakpoints (&gt;100 kb). Moreover, C-MoKa showed higher sensitivity in decoding intricate rearrangements in a single test.</div></div><div><h3>Conclusions</h3><div>Our results highlight the potential utility of C-MoKa in precisely unraveling SVs, mosaic aneuploidies, CNVs, and UPD in clinical settings, which can significantly impact further clinical decision-making.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"567 ","pages":"Article 120089"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142823594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}