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Analysis and interpretation of the 2022 Global Cancer Statistics Report： cancer burden and epidemiological trends in China and the world WU Qi, FAN Bonan, LI Yan Journal of Diagnostics Concepts & Practice    2025, 24 (02): 135-145.   DOI: 10.16150/j.1671-2870.2025.02.004 Abstract （1046）   HTML （37）    PDF（pc） （1203KB）（631）       Knowledge map    Save In February 2024, the International Agency for Research on Cancer (IARC) released the 2022 Global Cancer Statistics Report. In 2022, there were nearly 20 million new cancer cases and 9.7 million deaths. The report provides statistics on the incidence and mortality of 36 different types of cancer in 185 countries around the world, analyzing geographic, gender-based, and Human Development Index (HDI)-related differences. It also predicts the global burden of cancer disease by 2050. Demographic forecasts suggest that by 2050, the number of new cancer cases worldwide is expected to reach 35 million annually-an increase of 77% compared to 2022. Geographically, cancer incidence and mortality rates show significant regional disparities. In 2022, nearly half (49.2%) of the world's new cases and the majority (56.1%) of cancer deaths occurred in Asia. In terms of gender distribution, the overall cancer incidence and mortality rate among females were lower than those among males in 2022. With respect to HDI, the risk of developing cancer increases with higher HDI levels. In 2022, the top 5 newly diagnosed cancer cases worldwide are lung cancer, female breast cancer cancer, colorectal cancer, prostate cancer, gastric cancer in turn. There were nearly 2.5 million new lung cancer cases and over 1.8 million related deaths. Breast cancer in women accounted for 2.3 million new cases and nearly 670 000 deaths. Colorectal cancer, including anal cancer, had more than 1.9 million new cases and over 900 000 deaths. Prostate cancer recorded 1.5 million new cases and nearly 400 000 deaths. There were nearly 970 000 newly-diagnosed cases of gastric cancer and 660 000 related deaths. In China in 2022, lung cancer still ranks first in the cancer incidence spectrum in China, accounting for 22.0% of the total new cases of cancer in China. This proportion has further increased compared to 2018 data (17.9%), followed by colorectal cancer (10.7%), thyroid cancer (9.7%), liver cancer (7.6%), and gastric cancer (7.4%), which account for more than half of the total new cases in China (57.4%). This paper reviews the data sources and statistical methods used in the report, interprets the epidemiological trends of major cancer types, and analyzes the incidence and burden of major cancers prevalent in China, provi-ding an overview of their disease burden and epidemiological trends. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Research progress in genetic epidemiology of psoriasis in Chinese population CHEN Weiwei, SUN Liangdan Journal of Diagnostics Concepts & Practice    2024, 23 (06): 561-567.   DOI: 10.16150/j.1671-2870.2024.06.001 Abstract （643）   HTML （27）    PDF（pc） （901KB）（142）       Knowledge map    Save In 1984, the epidemiological survey in China suggested that the prevalence of psoriasis was 0.123 %. By 2008, a survey across six provinces and cities in China showed an increase in prevalence rate to 0.47 %. In comparison, the prevalence in European and American countries ranged from 2% to 4%. Psoriasis is a complex multi-gene genetic disease. In China, 31.26 % of psoriasis patients have a family history. The prevalence of psoriasis among first-degree and second-degree relatives of probands is 7.24% and 0.95%, respectively. The heritability is 67.04% for first-degree relatives and 46.59% for second-degree relatives, showing a trend of decreasing heritability with the increase of genetic coefficient. More than 100 susceptibility gene loci of psoriasis have been identified globally, many of which are associated with immune system-related gene variations. Approximately 38% of these loci are found in the Chinese population. Genetic linkage analysis suggests that the interleukin (IL)-15 gene is a susceptibility gene for psoriasis in Chinese individuals. Genome-Wide Association Studies (GWAS) identified multiple susceptibility gene loci associated with psoriasis. The LOC144817, RUNX1, COG6, and TP63 genes were identified in the multi-center and multi-ethnic meta-analysis. Chinese populations exhibit different allele frequencies in the HLA-I region compared to Western populations. This genetic heterogeneity suggested that different pathogenesis and therapeutic targets might exist across different populations. Researchers found multiple susceptibility loci with specific population effects, which further emphasized the importance of independent research in different populations. With the continuous discovery of susceptibility genes, an important future direction of research will be how to translate these findings into clinical applications, such as personalized treatment and drug development. Reference | Related Articles | Metrics | Comments（0）

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Analysis of clinical and laboratory characteristics of six cases with T-cell large granular lymphocytic leukemia LU Hongyu, LIU Hong, SONG Luxi Journal of Diagnostics Concepts & Practice    2024, 23 (06): 612-618.   DOI: 10.16150/j.1671-2870.2024.06.008 Abstract （507）   HTML （6）    PDF（pc） （1186KB）（565）       Knowledge map    Save Objective This paper aims to analyze and summarize the clinical and laboratory characteristics of patients with T-cell large granular lymphocytic leukemia (T-LGLL) and explore the diagnosis and treatment of T-LGLL. Methods A retrospective analysis was conducted on the clinical data of 6 T-LGLL patients treated at our hospital from March 2019 to December 2022. The cell morphology, bone marrow cell immunophenotyping, genetic testing results, and treatment plans were analyzed and summarized, with follow-up conducted. Results The median age at diagnosis of the 6 T-LGLL patients was 60 (range 54-70) years. All 6 patients presented with anemia at the time of consultation, with 3 requi-ring blood transfusion, 3 having splenomegaly, and 1 having lymphadenopathy. Peripheral blood LGL morphology was typical in all 6 cases, but with low absolute counts. The median count was 1.0 (range 0.4-1.4) × 109/L. Bone marrow cell immunophenotyping showed that all patients’ LGL cells originated from post-thymic mature T cells. 4 patients expressed the common CD3+CD8+CD57+ effector T-cell markers, while 2 expressed the rare CD3+CD8+CD57- memory T-cell markers. Genetic testing revealed monoclonal fragments in the T cell receptor (TCR) of all 6 patients, supporting the clonal abnormality. The next generation gene sequencing results showed STAT3 mutations in 4 of the 6 patients. All 6 patients received immunosuppressive therapy, and follow-up revealed that 5 patients responded to the treatment and 5 out of 6 patients achieved continuous hematological remission. Conclusions The diagnosis of T-LGLL cannot be accurately and early made solely based on typical cell morphology and absolute LGL counts. Additionally, there are significant variations in LGL immunophenotypes. Therefore, an integrated multi-parameter diagnostic approach combining morphology, immunophenotyping, TCR clonal analysis, and molecular biology data from next-generation sequencing is recommended. Currently, immunosuppressive therapy shows good treatment response. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Interpretation of Chinese Guidelines for the Prevention and Management of Bronchial Asthma （2024 Edition） ZHOU Yan, ZHANG Min Journal of Diagnostics Concepts & Practice    2025, 24 (04): 415-422.   DOI: 10.16150/j.1671-2870.2025.04.008 Abstract （506）   HTML （12）    PDF（pc） （509KB）（159）       Knowledge map    Save According to the Global Burden of Disease (GBD) data for 2021, the global age-standardized prevalence of asthma is 3 340.1/100 000, with a total of about 260 million patients, a mortality rate of 5.2/100 000, and 436 000 deaths. A 2012-2015 survey conducted in China shows that the prevalence of wheezing-related asthma among people aged 20 and above is 4.2%, with a total of about 45.7 million patients. However, the diagnosis rate is only 28.8%, and the control rate is only 28.5%, far below the international level, highlighting the urgent need for better asthma management and intervention. In March 2024, the Chinese Thoracic Society (CTS) released the Guidelines for the Prevention and Management of Bronchial Asthma (2024 Edition) (hereinafter referred to as the "2024 Guidelines"). For diagnostic pathways, the 2024 Guidelines improve the diagnostic criteria for asthma, emphasizing the evidence for variable expiratory airflow (such as bronchodilator tests, provocation tests, etc.). A "presumptive diagnosis pathway" is proposed for primary care and resource-limited medical institutions to improve the diagnosis rate and avoid overtreatment. In terms of staging and classification, the concept of "clinical remission" is introduced, defined as being asymptomatic for ≥1 year without the need for systemic glucocorticoid therapy. The classification of "intermittent state" is eliminated, and asthma severity is now simplified into three levels—mild, moderate and severe—with a dynamic assessment model proposed. The assessment system newly includes a type 2 inflammatory phenotype assessment, recommending the measurement of biomarkers such as peripheral blood eosinophil count (EOS) and fractional exhaled nitric oxide (FeNO) to guide individualized treatment, while also emphasizing comorbidity screening and risk factor assessment. In terms of treatment strategies, a stepwise management approach is used for chronic persistent treatment, with inhaled corticosteroid (ICS)-formoterol recommended as the preferred reliever (Pathway 1) to reduce the risk of acute exacerbations. The management of severe asthma emphasizes the use of biological targeted drugs, such as anti-IgE and anti-interleukin (IL)-5 monoclonal antibodies, while the treatment of acute exacerbations is recommended based on the severity level. Despite the significant progress made in the 2024 Guidelines, challenges remain. Epidemiological data on asthma in China are outdated, highlighting the urgent need for nationwide surveys to reflect the latest disease burden. Diagnosis rates in primary care are low, and inflammation assessment and dynamic mana-gement are insufficient, requiring strengthened capacity building at the primary care level. Real-world data on biologics in China are limited, restricting their application in precision therapy. The application of information technology in asthma management is still at an exploratory stage, and technologies like 5G should be leveraged to enhance patient education and follow-up efficiency. In the future, asthma prevention and treatment in China need to further optimize strategies for early diagnosis and early treatment, dynamically identify inflammatory phenotypes, establish drug response prediction models, and promote AI-assisted diagnosis and treatment to achieve more precise management. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Research progress on neurohumoral mechanism and clinical significance of vasovagal syncope LI Qiheng, XIE Yucai Journal of Diagnostics Concepts & Practice    2024, 23 (06): 628-633.   DOI: 10.16150/j.1671-2870.2024.06.011 Abstract （458）   HTML （17）    PDF（pc） （887KB）（169）       Knowledge map    Save Vasovagal syncope (VVS) is the most common type of syncope in clinical practice, primarily caused by the excessive response of the autonomic nervous system to external stimuli, leading to vasodilation and bradycardia, and consequently reduced whole brain perfusion. At present, the pathophysiological mechanism of VVS remains largely unknown, with neurohumoral regulation playing a significant role in it. Sympathetic Nervous System (SNS) plays a crucial role in the occurrence of VVS by regulating heart rate, blood pressure and vascular tone, especially in blood pressure regulation, postural changes, and stress response. The Renin-Angiotensin-Aldosterone System (RAAS) maintains blood volume and blood pressure stability by regulating vasoconstriction and sodium and water retention. Nitric oxide (NO) and hydrogen sulfide (H2S) secreted by vascular endothelial cells as vasodilator factors, and Endothelin (ET) as vasoconstrictor factors, are involved in regulating vascular tone. Neurotransmitters such as 5-hydroxytryptamine (5-HT) and galanin also play a key role in the occurrence of VVS. SNS and RAAS are involved in the occurrence of VVS. When the hemodynamics is still in a stable state, the plasma Epi and NE concentrations increase, and the Epi increment is much higher than NE, resulting in an increase in Epi/NE value. The significant β-adrenergic effect leads to peripheral vasodilation, venous blood flow accumulation, and progressive blood pressure decline, which is the most important pathophysiological mechanism leading to syncope. When hypotension occurs, the body compensatively secretes a large amount of AVP, and the significant increase of AVP concentration further leads to vasodilation, aggravates the decrease of blood pressure, and causes syncope. In the future, more accurate VVS drug development will become the focus. Using modern pharmacology and molecular biology techniques, drugs targeting specific neurohumoral mechanisms will be developed to achieve higher efficacy with fewer side effects. Additionally, the identification and validation of new biomarkers will drive advancements in early diagnosis and monitoring of treatment outcomes. Reference | Related Articles | Metrics | Comments（0）

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Analysis of global trends and current status of diagnosis and treatment of inflammatory bowel diseas YANG Cuiping, CHEN Ping Journal of Diagnostics Concepts & Practice    2025, 24 (04): 373-382.   DOI: 10.16150/j.1671-2870.2025.04.003 Abstract （457）   HTML （30）    PDF（pc） （571KB）（163）       Knowledge map    Save Inflammatory bowel disease (IBD) is a group of chronic, recurrent, nonspecific inflammatory intestinal disorders of unknown etiology, primarily comprising ulcerative colitis (UC) and Crohn's disease (CD). Over the past 30 years, IBD has transitioned from a traditional "Western disease" to a truly global disease. The prevalence of IBD in North America and Europe has stabilized at 0.5%-1.0%, while newly industrialized countries in Asia, Latin America, and Africa are experiencing a 5 to 10-fold surge in IBD incidence. It is projected that the total number of IBD patients in Asia will exceed 4 million by 2035. From 1990 to 2019, the number of IBD patients in China increased from 133 000 to 484 000 in males and from 107 000 to 427 000 in females. The age-standardized incidence of IBD in Chinese males and females increased from 1.72/100 000 and 1.20/100 000 to 3.35/100 000 and 2.65/100 000, respectively. By 2030, the number of IBD patients in China is projected to exceed 1 million. In terms of diagnosis, magnetic resonance enterography (MRE), computed tomography enterography (CTE), and video capsule endoscopy (VCE) have significantly improved the visualization of small bowel lesions. Fecal calprotectin (FC) (optimal threshold of 152 μg/g) can predict relapse, with a sensitivity of 72% and a specificity of 74%. Anti-neutrophil cytoplasmic antibody (ANCA) and anti-saccharomyces cerevisiae antibody (ASCA) can also provide a non-invasive basis for differentiating UC and CD. The multidisciplinary team (MDT) model has improved the diagnosis rate of difficult cases by 20%. In the field of treatment, conventional therapies including 5-aminosalicylic acid, corticosteroids, and immunomodulators remain the foundation. However, biologics and small molecule targeted drugs such as anti-tumor necrosis factor-α agents, anti-interleukin (IL)-12/23 agents, and Janus kinase inhibitors have become the core treatments for patients with moderate to severe IBD, achieving induction remission rates of 50%-70%. Endoscopic dilation, endoscopic mucosal resection, endoscopic submucosal dissection, or laparoscopic surgery combined with enhanced recovery after surgery can significantly reduce trauma. Exclusive enteral nutrition and probiotic interventions can achieve a remission rate of 60%-70% in pediatric CD patients. However, the accessibility of biologics in primary hospitals in China is less than 30%, and the implementation rate of enhanced recovery after surgery is below 40%, indica-ting a significant gap compared with Europe and America. In the future, a national IBD registry system should be established, and research on early diagnostic models based on artificial intelligence (AI) and pharmacoeconomics should be conducted to achieve precise prevention and treatment of IBD and alleviate the societal burden of the disease. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Value of novel sponge capsules combined with AI-based cell DNA detection in early esophageal cancer screening XU Mengdi, GAO Feng, ZHU Jian, CHEN Lei, QIN Yumeng, HUANG Yue, TANG Yinping, SHA Jie Journal of Diagnostics Concepts & Practice    2024, 23 (06): 580-586.   DOI: 10.16150/j.1671-2870.2024.06.004 Abstract （431）   HTML （12）    PDF（pc） （777KB）（216）       Knowledge map    Save Objective To explore the value of novel sponge capsules combined with AI-based cell DNA detection in early esophageal cancer screening. Methods From June 2021 to June 2022, subjects aged >40 years who were willing to undergo esophageal cancer screening were recruited. Firstly, the subjects underwent a novel sponge cell capsule examination to collect cell specimens. Then the cytological DNA index (DI) was assessed using artificial intelligence (AI). Subsequently, all subjects underwent endoscopy. The relationship between cytologic DI values and endoscopic findings was evaluated. Results A total of 1 369 participants were enrolled. There were 25 cases of esophageal lesions confirmed by endoscopy, including 15 cases of low-grade intraepithelial neoplasia, 1 case of high-grade intraepithelial neoplasia, and 9 cases of esophageal cancer. There were 1 344 cases in the normal esophagus group. DI was 2.154 ± 0.339 in the normal group and 2.832 ± 0.479 in the lesion group. The DI value of the esophageal lesion group was significantly higher than that of the normal esophageal group, and the difference was statistically significant. Logistic regression analysis showed that the odds ratio (OR) of DI values between the esophageal lesion group and the normal esophagus group = 0.04 (95% CI: 0.017-0.096). The sponge capsules combined with DI value diagnosed esophageal lesions with an area under the ROC curve of 0.914, an optimal critical value of 2.450, a specificity of 83.71%, a sensitivity of 88.00%, and an accuracy of 83.78%. Conclusions The novel sponge capsules DI test can be used for screening of early esophageal cancer, and this method should be promoted in clinical practice. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Research progress on effects of berberine on bone metabolism and related mechanisms BAI Mengyao, KONG Bo, YANG Lihui, LI Lijuan, SHI Yanqing, SUN Lihao Journal of Diagnostics Concepts & Practice    2024, 23 (06): 634-640.   DOI: 10.16150/j.1671-2870.2024.06.012 Abstract （383）   HTML （7）    PDF（pc） （2393KB）（53）       Knowledge map    Save Osteoporosis is a common chronic disease in the elderly in China. With the acceleration of population aging, the prevalence of osteoporosis is gradually increasing. The prevalence of osteoporosis among people over 50 years old in China is 19.2%, and 32.0% for those over 65 years old. This not only results in an increasing number of elderly patients with fractures but also highlights the significant harm of osteoporosis due to the low awareness and treatment rate As a traditional Chinese medicine ingredient, berberine has been proven to be effective in treating a variety of chronic metabolic and inflammatory diseases, including diabetes, tumors, cardiovascular diseases, hyperlipidemia, inflammation, bacterial and viral infections, and osteoporosis. In terms of bone metabolism, berberine has shown certain improvements in both primary osteoporosis caused by menopause and secondary osteoporosis caused by multiple factors such as diabetes, obesity, and the use of glucocorticoids. Meanwhile, berberine has also shown strong bone regeneration ability in the study of bone defect repair under conditions of diabetes, local infection, and inflammation. Multiple in vivo and in vitro studies have shown that berberine can not only promote the differentiation and maturation of osteoblasts through classical signaling pathways such as Wnt/β‑catenin, PI3K/AKT, APK, and AMPK, but also effectively inhibit the differentiation and activity of osteoclasts by suppressing the RANKL signaling pathway. At the same time, berberine can also improve the oxidative stress state of tissues and regulate bone metabolism by regulating small non‑coding RNAs (miRNAs). This paper focuses on the mechanisms and research progress of berberine in osteogenesis and osteoclastogenesis, aiming to provide a reference for further in‑depth research on the mechanism of berberine in treating osteoporosis. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Evolution of diagnosis standards for diabetes in China and blood glucose management for special populations ZOU Huimin, WANG Suijun Journal of Diagnostics Concepts & Practice    2025, 24 (01): 14-20.   DOI: 10.16150/j.1671-2870.2025.01.003 Abstract （357）   HTML （16）    PDF（pc） （491KB）（89）       Knowledge map    Save The prevalence of diabetes in China has been increasing annually. In 2021, the prevalence rate of diabetes reached 13.79% among individuals aged 20–79, with an undiagnosed rate as high as 56.0%. This indicates that China's diabetes prevention and control faces significant challenges. Diabetes is a chronic metabolic disease. Poor blood glucose control increases the risk of serious complications such as cardiovascular disease, kidney disease, retinopathy, and neuropathy, which impose a heavy burden on both individual health and socioeconomic development. Early detection of diabetes and the implementation of effective interventions are crucial for preventing complications. Currently, China's diabetes diagnosis primarily adopts international standards, using the 75g oral glucose tolerance test (OGTT) and glycated hemoglobin (HbA1c) as the gold standards for diagnosis. However, due to disparities in detection technologies and other factors, these methods still have certain limitations in clinical practice, especially in primary medical institutions where diabetes screening capacity and standardization level require further improvement. In addition, China demonstrates relatively low levels of awareness, treatment, and control rates of diabetes. According to 2021 data, the awareness rate of diabetes in China was 36.5%, the treatment rate was 33.2%, and the control rate was 49.2%. Although China has made some progress in diabetes prevention and treatment in recent years, there is still significant room for improvement. To address the challenges of diabetes prevention and treatment, a series of diabetes guidelines and consensus statements have been released by domestic experts, emphasizing the individualized and stratified management of diabetes patients. Different blood glucose control targets and treatment plans have been formulated for children and adolescents, pregnant women, and elderly patients. Meanwhile, the promotion of glucose monitoring technologies is considered an important approach to improve the rate of achieving blood glucose control targets. However, clinical attention remains inadequate for type 2 diabetes in children and adolescents, gestational diabetes, and elderly diabetes with sarcopenia, lacking standardized treatment strategies and high-quality medical evidence. For the current state of diabetes diagnosis and treatment in China, it remains imperative to further improve the diagnostic testing level, the coverage of examinations, and the ability of stratified management for different population groups. Reference | Related Articles | Metrics | Comments（0）

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Study on deep learning reconstruction technology in improving image quality of pituitary neuroendocrine tumors in coronal T1WI magnetic resonance image ZHANG Huihui, FANG Shu, WU Mengxiong, LIU Fangtao, HE Naying, DONG Haipeng, YAN Fuhua Journal of Diagnostics Concepts & Practice    2024, 23 (06): 594-601.   DOI: 10.16150/j.1671-2870.2024.06.006 Abstract （340）   HTML （7）    PDF（pc） （2456KB）（299）       Knowledge map    Save Objective To investigate the role of thin-layer pituitary T1WI fat suppression (FS) coronal enhanced sequences based on deep learning (DL) reconstruction technology in improving image quality for pituitary neuroendocrine tumors. Methods From June 2023 to June 2024, 46 patients diagnosed or suspected of having pituitary lesions were prospectively and consecutively enrolled, with a total of 40 pituitary neuroendocrine tumor lesions identified. All patients underwent thin-layer pituitary DL T1WI FS coronal enhanced scanning. Original reconstruction (OR) images without DL application were retained, and the images were divided into DL and OR groups according to the reconstruction method. Two neuroradiologists, using a double-blind method, subjectively evaluated (using the five-point Likert scale) the image quality of the two groups in six aspects: uniformity, sharpness, artifact, pituitary structure identification, lesion identification, and overall quality. Objective evaluation included measuring and calculating the signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) of pituitary neuroendocrine tumor and tumor-free area. The differences in image quality scores between the two groups were compared using the Wilcoxon rank-sum test. The intra-class correlation coefficient (ICC) was used to assess the consistency of subjective and objective image measurement results of both doctors. Results The ICC values of subjective and objective image quality scores between the DL and OR groups were all greater than 0.81, indicating extremely high consistency. In terms of subjective image quality evaluation, the image uniformity of the DL and OR groups was 4.33 (3, 5) and 3.73 (3, 4), respectively. Sharpness was 4.25 (3, 5) and 3.50 (3, 4), artifact was 4.35 (4, 5) and 2.95 (2, 4), pituitary structure identification was 4.38 (3, 5) and 3.35 (2, 5), lesion identification was 4.6 (3, 5) and 3.15 (2, 4), and overall quality was 4.30 (4, 5) and 2.63 (2, 3), respectively. The DL group showed higher scores than the OR group, and the differences were statistically significant (all P<0.001). For objective image quality evaluation, the SNRs of pituitary tumors in the DL and OR groups were 26.96 (18.10, 34.15) and 16.51 (11.24, 20.65), respectively, while the CNRs were 11.30 (6.74, 19.72) and 4.34 (3.07, 6.00), respectively. The SNRs of the pituitary in the DL and OR groups were 38.36 (31.93, 47.03) and 17.02 (15.49, 20.51), while the CNRs were 29.89 (23.28, 39.75) and 18.44 (16.61, 24.56), respectively. The DL group had higher scores than the OR group, and the differences were statistically significant (all P<0.001). The subjective and objective indicators evaluated by the two doctors showed good consistency. Conclusions The T1WI FS coronal enhanced sequences based on DL can significantly improve the image quality of pituitary neuroendocrine tumors and enhance the SNR and CNR of the images while ensuring the spatial resolution of the images, providing accurate imaging support for clinical diagnosis and treatment. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Survey of the satisfaction with the training status of non-clinical medical professional degree master students LI Ping, WANG Zheng, YANG Xinyi, XIE Peng Journal of Diagnostics Concepts & Practice    2024, 23 (06): 641-648.   DOI: 10.16150/j.1671-2870.2024.06.013 Abstract （337）   HTML （3）    PDF（pc） （984KB）（30）       Knowledge map    Save Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Value of vWF-related indicators in the diagnosis of liver cirrhosis progression in patients with hepatitis B YANG Mingkang, LIU Yu, XU Guanqun, WANG Jianbiao, WANG Xuefeng, LIANG Qian Journal of Diagnostics Concepts & Practice    2024, 23 (06): 574-579.   DOI: 10.16150/j.1671-2870.2024.06.003 Abstract （329）   HTML （18）    PDF（pc） （1272KB）（366）       Knowledge map    Save Objective To evaluate the correlation between von Willebrand factor (vWF) and its related indicators and the progression of liver cirrhosis in patients with hepatitis B and explore the diagnostic value of vWF-related indicators in assisting the diagnosis of decompensated liver cirrhosis in patients with hepatitis B.Methods A total of 91 hepatitis B patients hospitalized in the Department of Infectious Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, from December 2020 to March 2021, were included. According to the diagnostic criteria for liver cirrhosis, the patients were divided into three groups: chronic hepatitis B group (31 cases), compensated hepatitis B cirrhosis group (18 cases), and decompensated hepatitis B cirrhosis group (42 cases). The vWF antigen level (vWF: Ag), vWF collagen binding activity (vWF: CB), and vWF propeptide (vWFpp) were measured by ELISA. The vWF: CB/ vWF: Ag ratio was used to reflect the distribution of vWF multimers of different molecular weights. The vWFpp/vWF: Ag ratio was used to reflect the clearance rate of vWF in vivo. The ratio of vWF: Ag/platelet count was used to calculate the VITRO score. The SPSS 26.0 software was used for intergroup comparison, correlation analysis, and to assess the diagnostic performance of each indicator for decompensated hepatitis B cirrhosis.Results The levels of plasma vWF: Ag, vWF: CB, vWFpp, and vWFpp/vWF: Ag were significantly higher in the decompensated hepatitis B cirrhosis group than in the compensated group. However, there were no significant differences in the ratio of vWF: CB/vWF: Ag and VITRO scores between the two groups. The vWF: Ag, vWF: CB and vWFpp showed moderate positive correlations with Child-Pugh score in patients with chronic hepatitis B, with r values of 0.604, 0.593, and 0.711, respectively (P<0.05). When the cut-off value of vWFpp was set over 305.5%, its diagnostic efficacy for decompensated hepatitis B cirrhosis was highest, with a sensitivity of 78.6%, specificity of 93.9%, positive predictive value of 91.7%, negative predictive value of 83.6%, diagnostic accuracy of 86.8%, and area under the curve of 0.899.Conclusion The levels of vWF: Ag and vWFpp in plasma are well correlated with Child-Pugh liver function classification in patients with chronic hepatitis B, and can be used to assist in the diagnosis of decompensated liver cirrhosis of chronic hepatitis B, guiding patient treatment. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Analysis of weak expression of A antigen induced by ABO gene mutation GU Yuwei, WANG Chengyun, GU Ping, PAN Qiuhui, WANG Jing Journal of Diagnostics Concepts & Practice    2024, 23 (06): 619-623.   DOI: 10.16150/j.1671-2870.2024.06.009 Abstract （323）   HTML （5）    PDF（pc） （1881KB）（32）       Knowledge map    Save Objective This study aims to perform blood group genotyping on patients with weak antigen expression detected by ABO serology and analyze the causes of weak antigen expression. Methods Serological detection was carried out by the microcolumn gel method. Blood group genotyping was conducted by PCR combined with direct sequencing. The enhancer, promoter, exons 1-7, and adjacent intron regions of the ABO blood group gene in the patients were tested. The software PolyPhen-2 was used to predict the nucleotide function of mutations and to generate a 3D structural model. Results In one male patient, the red blood cells showed weak agglutination with anti-A antibody (2+) and agglutination with anti-B antibody (4+). The patient’s serum showed weak agglutination with A1 cells (2+), and no agglutination with B cells and O cells. The serological phenotype of the ABO blood group was AweakB, with both the direct antiglobulin test and antibody screening test being negative. The results of DNA sequencing showed that there were c.297 A>G mutation in exon 6, and c.526 C>G, c.657 C>T, c.703 G>A, c.796 C>A, c.803 G>C, c.930 G>A and c.940 A>G mutations in exon 7. According to the International Blood Transfusion Association database, the c.940 A>G mutation leads to p.Lys314Glu mutation in the ABO gene-encoded glycosyl transferase A (GTA), resulting in decreased A enzyme activity. The patient’s genotype was ABO*AW.37/B.01. Conclusions In this patient, exon 7 of the ABO blood group gene has a c.940 A>G mutation. This mutation site can change the encoded amino acid, namely p.Lys314Glu, resul-ting in weak expression of A antigen. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Type Ⅰ renal tubular acidosis caused by primary Sjögren syndrome with first diagnosis of hypokalemia: a case report HUANG Min, ZUO Ying Journal of Diagnostics Concepts & Practice    2024, 23 (06): 624-627.   DOI: 10.16150/j.1671-2870.2024.06.010 Abstract （313）   HTML （6）    PDF（pc） （1329KB）（320）       Knowledge map    Save Primary Sjögren syndrome (PSS) as a chronic systemic autoimmune disease, many patients with early hidden symptoms of presented the clinical manifestations of other systemic diseases for the first time, and its pathogenesis was not clear yet. PSS could invade the exocrine glands of body, and the kidney was also the susceptible organ in PSS. Some patients could develop to renal tubular acidosis, and lead to refractory hypokalemia and related clinical manifestations. As lack of effective treatment, the early diagnosis and intervention of the disease could avoid damage or delay the involvement of related organs and maximize the benefits of clinical treatment. This paper reported a patient, who was admitted to hospital with chief complain of repeated limb weakness for one year, was diagnosed as type I renal tubular acidosis secondary to primary Sjögren syndrome. The patients received symptomatic treatment and hydroxychloroquine sulfate immunotherapy, and the symptoms were resolved eventually. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Current situation and challenges of prevention and control of diabetes in China NING Guang Journal of Diagnostics Concepts & Practice    2025, 24 (01): 1-6.   DOI: 10.16150/j.1671-2870.2025.01.001 Abstract （312）   HTML （12）    PDF（pc） （1079KB）（60）       Knowledge map    Save Diabetes has become a major global public health issue. As of 2021， China had approximately 141 million diabetic patients， with 2/3 remaining undiagnosed， making China the country with the highest number of diabetes globally. This current status poses severe challenges to the prevention and control of diabetes and its complications. To effectively address these challenges， strategies must be comprehensive and involve multi-sectoral collaboration， including nationwide primary prevention， primary prevention for high-risk groups， and secondary prevention for diabetic patients. For the general population， it is critical to promote healthy lifestyles through health education， policy guidance， and technical resource support. For high-risk groups， emphasis should be placed on the importance of diabetes screening， coupled with combined measures of lifestyle interventions and pharmacological treatments. For diabetic patients， the focus should be on the monitoring and management of pan-risk factors associated with cardiovascular complications. China has introduced a new model for diabetes management—the National Metabolic Management Center （MMC）. By providing structured training and education for physicians within its network， the MMC promotes standardized， one-stop management solutions for diabetes， reducing regional disparities in diabetes management and effectively improving the diagnosis and treatment efficiency of diabetes and its complications. To achieve the goals of the "Healthy China 2030" initiative， concerted efforts from governments， sectors， communities， and individuals are required to raise diabetes awareness， expand standardized management coverage， and improve treatment and control rates， while reducing the incidence of diabetes and its complications. These efforts will lay a solid foundation for improving public health and building a healthy China for all. Reference | Related Articles | Metrics | Comments（0）

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Advances in application of photon-counting CT for pancreatic imaging HUANG Ruikun, YANG Yanzhao, CHAI Weimin Journal of Diagnostics Concepts & Practice    2025, 24 (02): 111-117.   DOI: 10.16150/j.1671-2870.2025.02.001 Abstract （308）   HTML （48）    PDF（pc） （868KB）（157）       Knowledge map    Save Photon-counting computed tomography (PCCT) is an advanced CT imaging technology based on novel photon-counting detectors. Compared to traditional energy-integrating detector CT (EID-CT), PCCT demonstrates significant advantages in radiation dose utilization efficiency, image spatial resolution, and spectral resolution, and is expected to revolutionize imaging diagnostic paradigms for pancreatic diseases. This study systematically reviews the latest research advances in PCCT for pancreatic imaging, with a focus on its clinical application value in displaying fine pancreatic anatomical structures, visualizing the pancreas, surrounding vascular networks, and pancreaticobiliary systems, evaluating benign and malignant lesions, and quantitatively assessing tumor heterogeneity. The core technical principles of PCCT include physical characteristics such as high photon-flux processing by photon-counting detectors, K-edge imaging, and multi-energy threshold data acquisition modes. On this basis, this study summarizes optimization strategies for pancreatic imaging, including scan parameter settings and the clinical application of multimodal post-processing techniques. PCCT can effectively reduce radiation dose while overcoming the spatial resolution bottleneck, thereby improving the detection rate of cystic lesions. The low-energy monoenergetic reconstruction mode of PCCT can enhance the contrast of solid tumors and optimize the visualization of branching and tumor-feeding vessels. By integrating representative clinical studies and preliminary validation trials in recent years, this study further analyzes key challenges and corresponding strategies during the clinical translation of PCCT. Additionally, it explores the future directions of this technology in the precise diagnosis of pancreatic diseases, personalized treatment decision support, and the development of AI-big data models, aiming to provide a theoretical foundation and practical reference for promoting PCCT applications in the field of pancreatic imaging. Reference | Related Articles | Metrics | Comments（0）

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Pure epithelial neuroendocrine neoplasms of the bladder: clinicopathological characteristics of 2 cases and literature review ZHOU Henghua, LIN Lan, ZHU Guixiang, LIU Min, HUANG Wentao Journal of Diagnostics Concepts & Practice    2024, 23 (06): 602-611.   DOI: 10.16150/j.1671-2870.2024.06.007 Abstract （304）   HTML （4）    PDF（pc） （10539KB）（30）       Knowledge map    Save Objective To investigate the clinicopathological features and prognosis of pure epithelial neuroendocrine neoplasms (NEN) of the bladder. Methods A retrospective analysis was conducted on the clinical data, histopathological morphology, and immunohistochemistry of 2 patients with pure epithelial NEN of the bladder admitted between 2018 and 2024. A differential diagnosis was performed, and a detailed literature review was conducted. Results Both patients were females, aged 85 (Case 1) and 84 (Case 2), presenting with lower limb edema and hematuria, respectively. B-scan ultrasound and MRI examinations showed a polypoid hypoechoic lesion in the trigone of the bladder in Case 1, with no enhancement on MRI, suggesting a benign lesion. Case 2 showed a nodular hypoechoic lesion in the anterior bladder wall with significant enhancement on MRI, suggesting a malignant tumor, with paraganglioma not excluded. Gross examination revealed that the two cases had one polypoid tissue and one nodular tissue, respectively, with maximum diameters ranging from 0.6 cm to 3.0 cm. Case 1 had a smooth surface, while Case 2 had a grayish-yellow cross section with medium hardness. Microscopically, both tumors showed typical NEN histopathological features, with the surface covered by bladder mucosa. Case 1 was confined to the lamina propria, while Case 2 showed invasive growth into the muscularis propria. Case 1 was diagnosed as well-differentiated neuroendocrine tumor (WD-NET) and Case 2 as large cell neuroendocrine carcinoma (LCNEC). Immunohistochemically, both tumor cells diffusely expressed broad-spectrum cytokeratin and neuroendocrine markers (2/2), with wild-type expression of P53 (2/2). The Ki67 proliferation index was 3%-5% in Case 1, with focal PSAP expression, and 60%-70% in Case 2, with minimal GATA-3 expression. Neither patient received special treatment. Case 1 was followed up for 76 months with no recurrence, while Case 2 died of recurrence and lung metastasis 3 months after surgery. Literature review suggested that pure epithelial NEN of the bladder exhibited typical histopathological morphology and immunophenotype of NEN. WD-NET typically followed an indolent course, while LCNEC was highly invasive and prone to recurrence and metastasis, consistent with the two cases reported in this study. Conclusions Pure epithelial NEN of the bladder is extremely rare. The definitive diagnosis mainly relies on histopathological examination and immunohistochemical staining. WD-NET has a good prognosis after complete tumor resection while LCNEC is highly invasive and has a poor prognosis. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Analysis of pathological features related to clinical prognosis in C3 glomerulopathy ZHANG Junhua, LI Yilin, XIE Jingyuan, ZHANG Chunli, XU Jing Journal of Diagnostics Concepts & Practice    2024, 23 (06): 587-593.   DOI: 10.16150/j.1671-2870.2024.06.005 Abstract （293）   HTML （10）    PDF（pc） （2851KB）（48）       Knowledge map    Save Objective To analyze pathological features related to clinical prognosis in C3 glomerulopathy. Methods A total of seven cases diagnosed as C3 nephropathy by renal biopsy in the Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine from 2012 to 2022 were collected. The clinical, pathological and follow-up data were retrospectively analyzed, and the prognostic pathological features were observed. Results Among the 7 patients (male/female, 3/4), the median onset age was 51 years, the median age at diagnosis was 54 years, and the median follow-up time was 84 months (ranging from 48 to 144 months). Two patients were lost to follow-up, 2 patients showed poor prognosis, and 3 patients had good prognosis. Clinically, 2 cases presented with nephrotic syndrome, 3 cases had renal insufficiency, and 6 cases had hematuria. All 7 patients exhibited hypocomplementemia and hypertension, with no obvious extrarenal manifestations. Among the 5 patients with long-term follow-up, by the 2-year follow-up, 1 patient had complete remission of proteinuria and creatinine levels, 3 patients had stable proteinuria and renal function, and 1 patient had increased proteinuria and declining renal function. By the 6-year follow-up, 3 patients had good prognosis, 1 patient who had poor prognosis at the 2-year follow-up showed further increase in proteinuria and significant decline in renal function, and 1 patient progressed to massive proteinuria. At the 6-year follow-up, a retrospective analysis of renal pathology revealed that 3 cases with good prognosis primarily exhibited diffuse endothelial cell proliferation with neutrophil infiltration, with minimal glomerular sclerosis and faint double-track appearance of the capillary loops. In these cases, there was also limited deposition of electron-dense material in the mesangial area.. Two cases with poor prognosis showed an increased proportion of glomerular sclerosis, extensive double-track appearance of capillary loops, and significant deposition of electron-dense material in the mesangial area, while endothelial cell proliferation with neutrophil and eosinophil infiltration was less pronounced. Conclusions If C3 glomerulopathy is dominated by acute pathological changes (glomerular capillary endothelial cell proliferation and neutrophil infiltration), patients tend to have a good prognosis and can be treated aggressively with steroids and immunosuppressants. If the pathology is dominated by chronic lesions (glomerular sclerosis, double-track formation of capillary loops, and extensive deposition of electron-dense material in the mesangial area), patients usually have a poor prognosis, and conservative treatment is recommended to avoid excessive intervention. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Analysis of gene subtypes and molecular transmission characteristics of HIV-1 infected individuals in Shanghai from 2015 to 2018 WU Jian, CHEN Weihua, XU Hao, XU Yuan, SHEN Yongxiu, NING Zhen, QIN Ting, LIN Yi, SHEN Xin, YU Xiaolei Journal of Diagnostics Concepts & Practice    2024, 23 (06): 568-573.   DOI: 10.16150/j.1671-2870.2024.06.002 Abstract （289）   HTML （8）    PDF（pc） （1165KB）（30）       Knowledge map    Save Objective Analyze the molecular epidemiological characteristics and influencing factors of human immunodeficiency virus type 1 (HIV-1) infected individuals in Shanghai, and to provide a scientific basis for developing effective intervention measures. Method A total of 1 322 serum samples from newly reported HIV-1 infected individuals between 2015 and 2018 were collected. Nested PCR was employed to amplify the HIV-1 pol gene sequences. Virus subtype analysis was then conducted based on the pol gene sequences, and a molecular network was constructed using the optimal gene distance. The characteristics of the molecular network and its influencing factors were analyzed. Results A total of 1 241 HIV-1 pol gene sequences were obtained from 1 322 samples, and 12 HIV genotypes were identified. The dominant subtypes were with CRF01_AE and CRF07_BC subtypes, accounting for 50.93% and 34.0%. respectively. Among these, 530 sequences entered the molecular network, with a clustering rate of 42.71% (530/1241), A total of 95 transmission clusters were formed, with cluster sizes ranging from 2 to 219 nodes. One large cluster contained 219 nodes (41.32%, 219/530). The highest clustering rate was observed in the CRF07_BC subtype (59.48%, 251/422), followed by 01B (52.46%, 32/61) and CRF01_AE (34.55%, 218/631). Male-to-male sexual transmission was more likely to form networks compared to heterosexual transmission. Conclusions The HIV-1 gene subtypes were diverse, with CRF01_AE and CRF07BC subtypes as the main dominant strainsin Shanghai. during 2015-2018, The molecular network showed an clustered distribution, and MSM are infected with HIV-1 have a faster ability to transmit the virus, leading to higher infection rates and easier entry into the network as high-risk carriers. Strengthening HIV-1 molecular monitoring can timely understand the transmission dynamics of the virus strain in different populations and help public health departments take effective intervention measures to reduce new HIV infections and prevent the spread of the epidemic Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Clinical applications of photon-counting CT in neuroimaging LÜ Haiying, LU Yong, HE Naying Journal of Diagnostics Concepts & Practice    2025, 24 (02): 212-219.   DOI: 10.16150/j.1671-2870.2025.02.013 Abstract （277）   HTML （6）    PDF（pc） （1921KB）（103）       Knowledge map    Save Photon-counting computed tomography (PCCT) is a next-generation CT imaging technology that markedly improves image quality while reducing radiation dose and image noise through single-photon detection and energy discrimination by photon detectors. At present, PCCT holds broad clinical application prospects in the field of neuroimaging, especially demonstrating unique advantages in the visualization of fine intracranial structures, the diagnosis and treatment monitoring of intracranial aneurysms, and the diagnosis and treatment of intracranial artery stenosis and spinal vascular lesions. In ultra-high-resolution (UHR) mode (slice thickness of 0.2 mm), PCCT of the head and neck arteries achieves high signal-to-noise ratios using BV64-BV72 convolution kernel reconstruction. With the digital subtraction angiography (DSA) as the gold standard, UHR-PCCTA shows sensitivity, specificity, accuracy, and inter-rater agreement of approximately 98.0%, 96.7%, 97.3%, and 0.95 (Kappa values), respectively, in diagnosing small intracranial aneurysms. In addition, UHR-PCCT significantly outperforms conventional energy-integrating detector CT (EID-CT) in identifying aneurysm irregularity, aneurysm wall, and intraluminal features. UHR-PCCT is expected to enable precise evaluation of the degree of arterial stenosis, potentially approaching the accuracy of DSA. With its multi-energy virtual monoenergetic reconstructions, it shows promise for quantitative analysis of intracranial athe-rosclerotic plaques and prediction of plaque rupture risk. Under sharp reconstruction kernels (e.g., BV72-BV80), PCCT enables clear visualization of intracranial arterial stents and residual aneurysms, offering a new noninvasive alternative to DSA for postope-rative monitoring of intracranial artery treatments. The diversified applications of PCCT in neuroimaging will lay a foundation for its better role in the diagnosis and treatment of neurological diseases. However, the widespread application of PCCT in the neurological field remains limited by factors such as restricted equipment availability, the need for imaging optimization in specific scenarios (e.g., small perforating arteries, severe calcifications, or metallic implants), and the lack of support from large-scale clinical validation data. In the future, it is necessary to gradually overcome these limitations through continued hardware upgrades, algorithmic optimization, and the advancement of multicenter prospective studies to fully unleash the clinical potential of PCCT. Table and Figures | Reference | Related Articles | Metrics | Comments（0）