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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
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    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.

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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
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    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.

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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
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    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.

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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
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    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.

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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
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    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.

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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
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    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.

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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
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    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 consecutive 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 (P<0.05). 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 combined DI test can be used for screening of early esophageal lesions (cancer).

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    Interpretation of global stroke report data in 2025: gradient evolution and precise management of stroke burden
    TANG Chunhua, GUO Lu, ZHANG Lili
    Journal of Diagnostics Concepts & Practice    2025, 24 (05): 485-497.   DOI: 10.16150/j.1671-2870.2025.05.003
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    In 2021, there were 93.816 million prevalent cases of stroke worldwide [age-standardized prevalence rate(ASPR) 1 099/100 000], with 11.946 million new cases in that year [age-standardized incidence rate(ASIR) 142/100 000]. Among these new cases, ischemic stroke (IS), intracerebral hemorrhage (ICH), and subarachnoid hemorrhage (SAH) accounted for 65.3% (7.804 million), 28.8% (3.444 million), and 5.8% (0.697 million), respectively. In the same year, stroke caused 7.253 million deaths, accounting for 10.7% of all global deaths. Deaths caused by IS, ICH, and SAH accounted for 49.5% (3.591 million), 45.6% (3.308 million), and 4.9% (353 000), respectively. In 2021, stroke remained the second leading cause of death worldwide, with its core disease burden indicator — disability-adjusted life years (DALYs) — exceeding 160 million, ranking third among all global total disease burdens. In terms of economic burden, the global direct medical costs and productivity losses caused by stroke reached 890 billion USD in 2021 (accounting for 0.66% of the global GDP), and are projected to exceed 1.8 trillion USD by 2050 if the current growth rate persists. The global stroke burden exhibits a dual trend of "increasing absolute numbers but decreasing age-standardized rates". Low- and middle-income countries bear most of the disease burden, and the incidence of stroke shows a coexistence of younger and older onset. In terms of risk factors, the burden of traditional behavior-related risks has decreased, while the attributable burden of metabolic and climate-related risks is rapidly increasing. China bears the heaviest stroke burden globally, characterized by a “four-high” pattern of “high incidence, high prevalence, medium-to-high mortality, and medium-to-high DALYs”, with significant urban-rural and regional disparities. This condition results from the combined effects of accelerated population aging and continuously increasing exposure to risk factors. In 2021, there were 26.335 million prevalent cases in China, with ASPR of 1 301.4/100 000. In 2021, there were 4.09 million new stroke cases in China (ASIR 204.8/100 000), accounting for 34.2% of all new global cases—far exceeding China's proportion of the world's population (about 20%). IS accounted for 67.8% [2.772 million cases, age-standardized incidence rate (ASIR) 135.8/100 000], and ICH accounted for 28.7% (1.173 million cases, ASIR 61.2/100 000). The annual total economic burden of stroke in China has exceeded 400 billion RMB, with its proportion in the national healthcare expenditure continuing to increase. Direct medical costs account for about 60%, while indirect costs (including productivity losses and caregiving expenses) account for 40%, imposing a dual pressure on both society and families. To address this challenge, a stratified precision prevention and control system centered on the coordination of "policy-healthcare-society" should be established, covering primordial, primary, and secondary prevention levels. Emphasis should be placed on cross-sector collaboration, data-driven approaches, and international experience sharing to achieve effective control of the stroke burden and promote global health equity.

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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
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    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.

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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
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    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.

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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
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    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.

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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
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    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.

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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
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    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.

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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
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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
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    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.

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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
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    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.

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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
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    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.

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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
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    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.

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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
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    Objective To analyze the pathological features associated with the clinical prognosis of C3 glomerulopathy (C3G). Methods A total of consecutive 7 cases, all hospitalized in the Department of Nephrology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine between 2012 and 2022, and histologically diagnosed with C3G by renal biopsy, were collected. Their clinical, pathological, and follow-up data were retrospectively analyzed to observe pathological characteristics related to prognosis. Results The cohort consisted of 7 C3G patients (male/female: 3/4). The median age at onset was 51 years, and the median age at diagnosis was 54 years. The median follow-up time was 84 months (range: 48-144 months). Two patients (Case 1, Case 7) were lost to follow-up. Two patients (Case 5, Case 6) had a poor prognosis, while three patients (Case 2-4) had a favorable prognosis. Clinically, 2 patients (Case 3, Case 7) presented with nephrotic syndrome, 3 patients (Case 1, Case 3, Case 6) had renal insufficiency, 6 patients (Case 1-6) had hematuria, and all 7 patients exhibited hypocomplementemia and hypertension, without significant extrarenal manifestations.Among the 5 patients with long-term follow-up, at the 2-year mark: 1 patient (Case 3) achieved complete remission of proteinuria and serum creatinine; 3 patients (Case 2, Case 4, Case 5) had stable proteinuria and renal function; and 1 patient (Case 6) showed increased proteinuria and declining renal function. At the 6-year follow-up: 2 patients (Case 2, Case 4) maintained a good prognosis; 1 patient (Case 3) was no longer followed up after achieving complete remission of proteinuria and creatinine; 1 patient (Case 6), who already had a poor prognosis at 2 years, exhibited a further increase in proteinuria and a significant decline in renal function; and 1 patient (Case 5) newly progressed to heavy proteinuria.At the 6-year follow-up, a review of renal pathology revealed that the 3 cases with a favorable prognosis (Case 2-4) primarily showed diffuse capillary endothelial cell hyperplasia with neutrophil infiltration on light microscopy, while global glomerulosclerosis and glomerular basement membrane pseudo-double contour formation were not prominent. Electron microscopy demonstrated relatively few electron-dense deposits in the mesangial region. In contrast, the 2 cases with a poor prognosis (Case 5, Case 6) were characterized by an increased proportion of global glomerulosclerosis[ greater than (age-20)/2 × 100%] ,extensive glomerular basement membrane pseudo-double contours on light microscopy, and abundant mesangial electron-dense deposits on electron microscopy, with minimal capillary endothelial cell hyperplasia and neutrophil infiltration. Conclusions C3G patients whose histopathology is predominantly characterized by acute lesions (such as glomerular capillary endothelial cell hyperplasia and neutrophil infiltration) have a more favorable prognosis and can be treated aggressively with corticosteroids and immunosuppressants. Conversely, C3G patients whose histopathology is predominantly characterized by chronic lesions (such as global glomerulosclerosis, glomerular basement membrane pseudo-double contour formation, and a high quantity of mesangial electron-dense deposits) have a poor prognosis, and conservative management is recommended to avoid overtreatment.

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    Application of photon-counting CT in cardiovascular diseases
    WANG Mengzhen, BAO Shouyu, LIU Peng, YAN Fuhua, YANG Wenjie
    Journal of Diagnostics Concepts & Practice    2025, 24 (02): 125-134.   DOI: 10.16150/j.1671-2870.2025.02.003
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    Photon-counting computed tomography (PCCT) is a revolutionary technological breakthrough in CT imaging over the past decade. Compared with traditional energy-integrating detector CT, PCCT performs imaging at the single-photon level at the detector layer, offering higher spatial resolution, fewer artifacts, and more accurate spectral imaging. PCCT shows great application potential in the diagnosis of cardiovascular diseases, especially in reducing beam-hardening artifacts and achieving ultra-high spatial resolution, which can further improve the specifi-city and positive predictive value in the assessment of coronary artery stenosis. This also contributes to the accurate evaluation of in-stent restenosis, reliable identification of plaque components, and characterization of vulnerable plaques. PCCT can obtain stable calcium scoring at low radiation doses. The virtual non-contrast (VNC) algorithm supports reliable calcium scoring from contrast-enhanced images, further reducing the radiation dose. PCCT can improve the reproducibility of features in pericoronary fat radiomics analysis. The VNC algorithm can accurately assess epicardial fat volume and significantly reduce radiation dose. Spectral images acquired by PCCT at high temporal resolution enable single-phase measurement of myocardial extracellular volume. They can also provide multidimensional anatomical information and functional parameters for preoperative planning and postoperative follow-up of transcatheter aortic valve implantation/replacement (TAVI/TAVR). Although PCCT holds great potential in the diagnosis of coronary artery disease and quantitative analysis of myocardial tissues, its quantitative results remain affected by reconstruction parameters such as convolution kernels, virtual monoenergetic levels, and iterative strength. Currently, a lack of unified standards and validation from multicenter studies, along with the increased radiation dose in ultra-high-resolution modes, still limits its wide clinical application. Future studies should focus on large-sample, multicenter prospective studies to optimize imaging parameters, standardize post-processing workflows, and integrate artificial intelligence tools to enhance the clinical application of PCCT in cardiovascular disease diagnosis.

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