Objective:To explore the application value of patient data-based real-time quality control (PBRTQC) in enhancing the effectiveness of internal quality control (IQC) management.Methods:From the PBRTQC real-time quality control intelligent monitoring platform integrated with the laboratory information system (LIS), a total of 35,631 test results of red blood cell (RBC) count, white blood cell (WBC) count, and dehydroepiandrosterone sulfate (DHEA-S) were collected from patients of the Department of General Xi'an Area Medical Laboratory Center from August 1, 2023, to April 1, 2024. The platform was used in patient data distribution characteristics test, EWMA real-time quality control chart procedure establishment, performance validation, effect evaluation, best procedure selection, and real-time operation. The performance evaluation indexes of the best PBRTQC procedure establishment, the cut-off limit range, weighting coefficient, cumulative mean, standard deviation (SD), coefficient of variation ( CV) of the EWMA real-time quality control chart, and the cumulative mean, SD, and CV of its internal quality control data in the same period were counted, and at the same time compared with the quality target (1/3TEa). Coefficient of variation analyses were performed to compare the quality control status of PBRTQC and conventional internal quality control in the presence of warning or alarm prompts based on quality control process records, and alarm messages. Results:The evaluation indexes of the optimal procedures for RBC count, WBC count, and DHEA-S were the probability of error detection (Ped) between 93%-97% and greater than 90%, the false positive rate (FPR) between 0.0%-0.5%, the false negative rate (FNR) between 3.0%-7.0%, and the average number of the patient sample until error detection (ANPed) between 5-11, which is in line with the optimal quality control efficacy quality requirements for the PBRTQC procedure. The patient outcome cut-off concentrations for the optimal procedure EWMA quality control charts ranged from RBC count (3.92-5.16)×10 12/L, WBC count (4.28-7.50)×10 9/L, and DHEA-S (830-2 160) μg/L; (2 160-4 210) μg/L. The weighting coefficients were 0.05, 0.03, and 0.03, respectively. The real-world application of the EWMA real-time quality control charts showed stable and excellent analytical performance of the measurement system, such as out-of-control alarm: RBC count, 1 true alarm, Ped of 95.85%, and FPR of 0%. The cumulative CV of EWMA was less than the quality target; the cumulative CV of DHEA-S was 7.66% and 9.47%, respectively, and the cumulative CV of low level was greater than the quality target (8.33%), and the cumulative CV of high and low levels were 4.12% and 6.25%. Conclusion:The PBRTQC EWMA method can monitor the patient data - in real-time and continuous way. It can also dynamically identify and provide early indication of small changes in analytical performance during the analysis process, and can be used as a supplement to quality control products to improve the efficacy of laboratory quality management.

Nuclear magnetic resonance spectroscopy (NMRS) is a branch of spectroscopy, which can be used to determine the number, type and relative position of components in the mixture. Due to its high throughput, high sensitivity and high stability, especially its "fingerprint", non-destructive and non-biased detection of metabolites, NMRS has become one of the most commonly used analytical and detection techniques in metabolomics. Based on the research of clinical laboratory application, this review briefly expounds the technical principle of nuclear magnetic resonance spectroscopy, introduces the development and latest research results of nuclear magnetic resonance spectroscopy in biomedical application fields such as blood lipid analysis, tumor detection, prediction of mental and nervous system diseases, infectious diseases, nutrition and health management, and discusses the development prospect of clinical translational medicine.

Extracellular vesicles (EVs) can carry a variety of bioactive components including nucleic acids, proteins and small molecule metabolites, and their value in tumor diagnosis and treatment has been widely recognized. However, current studies on EV inclusions mainly focus on RNA and protein, and the role of small molecule metabolites that can most directly reflect the cell state in EV remains unclear. EV metabolomics in cancer research has gradually gained traction in recent years. There are still many challenges in EV metabolomics research due to the complexity of pretreatment and low content of metabolite, but its value in regulating tumor progression and serving as tumor markers has gradually emerged, which is expected to provide new targets for tumor diagnosis and treatment.

Patient based real time quality control (PBRTQC) is a quality control method that uses the test results of clinical specimens from patients to monitor the analysis performance of the test process in real time and continuously. Although the International Federation of Clinical Chemistry and Laboratory Medicine PBRTQC working group had recommended that this method should be popularized in clinical practice in 2020, there is still certain lagging in cognition, research and application of PBRTQC in domestic clinical laboratories. This paper highlights the research progress, operation categories, clinical application value, domestic standard guidelines, PBRTQC procedure establishment, performance verification, implementation principles, application status and prospects of PBRTQC, so as to promote the recognition, acceptance, reference and wide application of PBRTQC in domestic clinical laboratories.

Nuclear magnetic resonance spectroscopy is one of the main analytical techniques for detecting metabolomics, which has the advantages of simple operation, rapid detection and non-invasive feature. By monitoring the changes of metabolites in the body, it is helpful to deeply understand the mechanism of disease and play a role in the diagnosis and treatment of diseases, but its clinical application has not yet been popularized. In recent years, the application of metabolomics in tumors has increasingly become a research hotspot. Therefore, in order to provide a reference for the research and clinical application of tumor metabolomics, the nuclear magnetic resonance spectroscopy and tumor metabolomics were introduced in this paper, and the application progress of metabolomics analysis based on this technique in early tumor screening, clinical diagnosis and prognosis evaluation were reviewed in this paper.

目的：通过 CRISPR/Cas9 技术构建前列腺癌 PC3 细胞 TFDP3 基因敲除的稳转株，探讨抑制 TFDP3 表达对 PC3 细 胞周期、凋亡、迁移和侵袭能力的影响。方法：通过生物信息学筛选 sgRNA，通过 CRISPR/Cas9 技术、构建抑制 TFDP3 基因表达 的 sgRNA-Cas9 共转染慢病毒，感染 PC3 细胞后筛选获取稳转细胞株。通过流式细胞术对 TFDP3 基因敲除的实验组与空白对照 组进行细胞周期和凋亡检测，并进一步通过划痕实验和 Transwell 实验进行细胞迁移和侵袭能力检测。结果：通过生物信息学 筛选获得 3 条 sgRNA，其中 sgRNA2 有明显的抑制前列腺癌细胞基因表达的功能；通过 CRISPR/Cas9 技术成功构建了基于 CRISPR/Cas9 介导的 TFDP3 低表达的 PC3 细胞稳转株。抑制 TFDP3 基因表达后，相比于对照组，KO 组中 G0/G1 期细胞 百分比增加、G2/M 期细胞百分比下降（P<0.05 或 P<0.01），细胞凋亡率显著升高（P<0.05），细胞迁移率明显下降 [24 h 迁移率： (44.00±1.60)% vs (65.00±4.40)%，P<0.01]，穿过聚碳酸酯膜的侵袭细胞数明显下降 [（185.89±11.71）vs （248.33±11.95）个， P<0.01]。结论：通过 CRISPR/Cas9 技术抑制 TFDP3 基因表达后，PC3 细胞发生周期阻滞、凋亡率也有所增加、迁移和侵袭能力 显著减弱，提示 TFDP3 是一个前列腺癌促癌基因。

Extracellular vesicles (EV) are widely distributed, rich in content, and fully participate in the regulation of important cellular physiological activities. As a new technology for tumor diagnosis, the natural advantages of EV include protecting its contents, being easy to obtain from various biofluids, having the potential to be truly non-invasive and high tissue fidelity. In order to transfer EV for clinical use, many isolation technologies such as microfluidics, immunochips, nano-flow cytometry and acoustic capture have been continuously developed. At present, several EV tumor diagnostic products have been applied in the clinical setting. However, due to the great differences in detection methods and platforms, there are still some technical difficulties in its clinical applications. With the accumulation of clinical evidence and the continuous improvement of clinical diagnostic methods, the liquid biopsy based on EV can finally be applied in the clinic.

As a new type of intercellular signaling rector, extracellular vesicles (EV) are involved in almost the whole process of tumorigenesis, progression, metastasis, and drug resistance. Therefore, EV have become the ideal biomarker candidates and research hotspots for cancer diagnosis and treatment. However, EV tumor biomarker research mainly focused on RNA and protein, and a small part of the research focused on lipids at the early stage. EV DNA has received little attention and its diagnostic value has gradually been recognized in recent years. Study on the biological characteristics and function of EV DNA may highlight its potential in tumor diagnosis.

The application of artificial intelligence (AI) technology in laboratory medicine has shown great potential, but it also has many challenges and difficulties. Understanding the basic principles, evaluation methods, application scenarios, advantages and limitations of artificial intelligence can facilitate its use in the working practice. In the near future, AI will be fully applied in clinical testing, enabling laboratory medicine to play a more accurate role in disease diagnosis, curative effect monitoring, prognositic judgment and other aspects. With the help of AI technology, laboratory medicine has a promising future.

OBJECTIVE: To analyze the clinical phenotype and genetic basis of a consanguineous pedigree affected with hereditary coagulation factor XII (FXII) deficiency. METHODS: Following extraction of genomic DNA, all exons and flanking regions of F12 gene were subjected to PCR amplification and Sanger sequencing. ClustalX-2.1-win and MutationTaster software was used to analyze the conservation and impact of the variants on protein function. RESULTS: DNA sequencing showed that the proband carried a homozygous g.6753-6755delACA deletion (p.252delAsn) in exon 9 of the F12 gene, for which her father, mother and brother were heterozygous carriers. The same deletion was not found in her sister. CONCLUSION The homozygous p.252delAsn deletion probably underlies the hereditary FXII deficiency in this pedigree.