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25 August 2025, Volume 24 Issue 04 Previous Issue   

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Application strategies of examination methods in clinical diagnosis of gastroesophageal reflux disease ZHANG Ling, YAO Weiyan, ZOU Duowu 2025, 24 (04):  359-364.  DOI: 10.16150/j.1671-2870.2025.04.001 Abstract ( 55 )   HTML ( 3 )   PDF (470KB) ( 6 )   Gastroesophageal reflux disease (GERD) is a common digestive system disease. Epidemiological studies show that the incidence of GERD ranges from 10% to 30% in Europe and the United States, while the incidence in China is relatively lower, at approximately 10%. In recent years, the incidence of GERD in China has shown an increasing trend. Different diagnostic methods include pH monitoring and pH-impedance testing, endoscopy, high-resolution esophageal manometry, proton pump inhibitor (PPI) test, and salivary pepsin testing. Endoscopy enables direct observation of lesions but exhibits relatively low sensitivity. PPI tests are simple and practical but cannot provide a definitive diagnosis. Questionnaires are highly subjective. Salivary pepsin testing can evaluate laryngopharyngeal reflux, but its accuracy is limited by enzyme degradation. The sensitivity and specificity of these diagnostic methods differ. Among them, questionnaires demonstrate good performance in GERD diagnosis, with a sensitivity of 77.50% and a specificity of 87.31%. Salivary pepsin tes-ting in GERD diagnosis shows a sensitivity of 73.0% and specificity of 88.3%. The PPI test is suitable for patients with typical reflux symptoms, but the response rate significantly decreases in patients with atypical symptoms. Reflux and heartburn are not exclusive to GERD. These two symptoms may also occur in other conditions, such as achalasia, functional heartburn, reflux hypersensitivity, and eosinophilic esophagitis, potentially leading to misdiagnosis in some cases. Meanwhile, GERD is a complex syndrome involving multiple pathogenic factors and pathophysiological mechanisms. When formulating treatment strategies, clinicians should adopt individualized and precision treatment tailored to the pathological and physio-logical mechanisms of patients with different clinical manifestations. In the future, with further research and the application of new technologies, individualized precision treatment will become the core of GERD management, aiming to improve patients' quality of life and reduce the recurrence rate. Figures and Tables | References | Related Articles | Metrics

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Research progress on endoscopic ultrasonography in vascular interventional diagnosis and therapy CHENG Guilian, SHI Tianze, HU Duanmin 2025, 24 (04):  365-372.  DOI: 10.16150/j.1671-2870.2025.04.002 Abstract ( 28 )   HTML ( 1 )   PDF (1342KB) ( 2 )   This study systematically reviews the advances in the application of endoscopic ultrasonography (EUS) in both portal and non-portal vascular interventions. EUS-guided sclerotherapy and coil embolization effectively occlude perforating vessels in esophageal, gastric, and ectopic varices, significantly reducing recurrence rates—particularly in refractory cases and patients with large shunt pathways. Moreover, EUS-guided portal pressure measurement achieves a technical success rate of 95% and demonstrates strong correlation with hepatic venous pressure gradient, showing potential as a non-invasive alternative. Meanwhile, EUS-guided fine-needle aspiration enables minimally invasive biopsy for definitive diagnosis of portal vein thrombi, with no complications reported. In non-portal vascular interventions, EUS provides precise therapeutic solutions for refractory lesions by embolizing bleeding ulcers, pseudoaneurysms, and feeding vessels of gastrointestinal stromal tumors. Although current evidence is predominantly derived from small-scale studies, the safety and efficacy of EUS-guided vascular intervention (EUS-VI) have been preliminarily validated. Future research should focus on large-scale randomized controlled trials to further evaluate and optimize technical standards, ultimately establishing EUS-VI as a first-line diagnostic and therapeutic option for vascular lesions. Figures and Tables | References | Related Articles | Metrics

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Analysis of global trends and current status of diagnosis and treatment of inflammatory bowel diseas YANG Cuiping, CHEN Ping 2025, 24 (04):  373-382.  DOI: 10.16150/j.1671-2870.2025.04.003 Abstract ( 90 )   HTML ( 6 )   PDF (571KB) ( 29 )   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. Figures and Tables | References | Related Articles | Metrics

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Research progress on noninvasive quantitative diagnosis of intestinal fibrosis in Crohn's disease ZHANG Pingxin, YANG Jie, WANG Yangdi, CHEN Minhu, LI Xuehua, MAO Ren 2025, 24 (04):  383-392.  DOI: 10.16150/j.1671-2870.2025.04.004 Abstract ( 32 )   HTML ( 4 )   PDF (2275KB) ( 7 )   Crohn's disease (CD) is a chronic, non-specific inflammatory bowel disease with complex etiology, often accompanied by progressive intestinal fibrosis during its course, which can ultimately lead to severe complications such as luminal stricture, obstruction, and fistula. The development of intestinal fibrosis is irreversible and shows limited response to anti-inflammatory therapies. Therefore, early identification and precise quantitative assessment of intestinal fibrosis are crucial for optimizing therapeutic strategies, delaying disease progression, reducing surgical risks, and improving long-term prognosis. In recent years, with the rapid development of imaging technologies, multiple noninvasive diagnostic modalities—including computed tomography enterography (CTE), magnetic resonance enterography (MRE), intestinal ultrasound (IUS), and positron emission tomography (PET)-CT/PET-MRE have become increasingly mature in clinical application. By integrating multidimensional approaches such as structural parameters, functional imaging, elastography, and radiomics-artificial intelligence models, the efficiency and accuracy of quantitative assessment of intestinal fibrosis have been significantly improved. This review systematically summarizes the research progress on quantitative imaging assessment techniques for CD-associated intestinal fibrosis,aiming to provide a theoretical basis and practical reference for the precise clinical management of CD fibrosis and the development of novel anti-fibrotic therapies. Figures and Tables | References | Related Articles | Metrics

Interpretation of the Guidelines

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Interpretation of 2025 American College of Gastroenterology Clinical Guidelines： Diagnosis and Management of Gastric Precancerous Lesions ZOU Tianhui 2025, 24 (04):  393-400.  DOI: 10.16150/j.1671-2870.2025.04.005 Abstract ( 35 )   HTML ( 1 )   PDF (577KB) ( 4 )   In 2022, there were approximately 970 000 new cases and 660 000 deaths from gastric cancer worldwide, with East Asia (such as China, Japan, and South Korea) being the main high-incidence regions. Although the incidence rate and mortality rate of gastric cancer in China showed a slow decline from 2010 to 2020, the disease burden remains heavy due to the large population and insufficient early screening coverage. In 2025, the American College of Gastroenterology (ACG) released the American College of Gastroenterology Clinical Guidelines: Diagnosis and Management of Gastric Precancerous Lesions. The core content of the guidelines includes: ① individualized risk assessment: high-risk populations should be screened based on factors such as age, Helicobacter pylori (Hp) infection, and family history. ② High-quality endoscopic technical standards: the guidelines recommend using high-definition white-light endoscopy with image-enhanced technologies (such as narrow band imaging, NBI) to improve lesion detection rates and emphasize the standardization of biopsy pathology. It also recommends using the operative link for gastritis assessment (OLGA) and operative link for gastric intestinal metaplasia assessment (OLGIM) staging systems for gastric cancer risk stratification and surveillance, while emphasizing the core position of Hp eradication. ③ Endoscopic monitoring and follow-up intervals: the guidelines have important implications for the prevention and treatment of gastric cancer in China, including optimizing screening strategies, such as implementing precision screening for high-risk populations based on China's conditions and exploring combined screening models for colorectal and gastric cancer. It is essential to continue to improve the capabilities of endoscopic diagnosis and treatment, strengthen the training of grassroots physicians, advance high-quality endoscopic techniques (such as NBI magnifying endoscopy), strengthen Hp infection prevention and control, and implement synchronous screening and treatment for household clusters of infection. The surveillance system should be improved by referencing OLGA/OLGIM stratification to establish personalized monitoring intervals. Concurrently, evidence gaps must be addressed by conducting prospective studies to validate the rationality of surveillance intervals and developing non-invasive biomar-kers. Although some recommendations in the ACG guidelines are supported by limited evidence, the standardized framework provides important reference for early detection and treatment of gastric cancer in China. This approach helps address current challenges such as low screening coverage and high proportion of advanced-stage cases, ultimately reducing the di-sease burden. Figures and Tables | References | Related Articles | Metrics

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Key updates of China Anti-Cancer Association Guidelines for Diagnosis and Treatment of Neuroendocrine Neoplasms （2025 Edition）： Analysis of gastrointestinal endoscopic diagnosis and treatment JI Bei, SU Wei, TUO Biguang, LIU Xuemei 2025, 24 (04):  401-406.  DOI: 10.16150/j.1671-2870.2025.04.006 Abstract ( 32 )   HTML ( 1 )   PDF (675KB) ( 5 )   Gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs) are the main type of neuroendocrine neoplasms (NENs). Their incidence rate has been increasing year by year, with variations in distribution across different regions and populations. The 2025 edition of the "Guidelines for Diagnosis and Treatment of Neuroendocrine Neoplasms" provides new guidance on endoscopic diagnosis and treatment of gastrointestinal NENs (GI-NENs). Based on comprehensive stratification criteria incorporating tumor size, pathological grading, and anatomical location, endoscopic submucosal dissection (ESD) and endoscopic mucosal resection (EMR) are recommended exclusively for G1 tumors with lesions ≤ 10 mm in diameter, confined to the mucosa / submucosa without muscularis layer invasion or metastasis. For G2 neoplasms with lesions ≤ 15 mm and Ki-67 < 10%, endoscopic intervention should be cautiously considered only for patients who cannot tolerate surgery. Digestive endoscopy, with its dual capabilities of visualized targeted biopsy and minimally invasive intervention, plays an important role in the diagnosis and treatment of GI-NENs. Endoscopic therapy is not simply a technical procedure, but requires a comprehensive decision-making process based on tumor staging, grading, systemic function evaluation, and molecular characteristics. Only through multidisciplinary collaboration, the in-depth integration of endoscopic precision evaluation, imaging examination, and systemic therapy, the construction of a whole-process management system, and the accumulation of evidence-based medical data can the limitations of heterogeneity be overcome and the diagnosis and treatment of NENs be advanced toward precision and personalization. Figures and Tables | References | Related Articles | Metrics

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Interpretation of 2025 American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in the management of chronic pancreatitis： methodology and review of evidence BAI Yaya, ZHOU Chunhua, ZOU Duowu 2025, 24 (04):  407-414.  DOI: 10.16150/j.1671-2870.2025.04.007 Abstract ( 28 )   HTML ( 2 )   PDF (515KB) ( 4 )   Pain is one of the primary symptoms of patients with chronic pancreatitis (CP). Digestive endoscopy plays a significant role in alleviating pain in CP patients, but its clinical application is still associated with numerous unresolved controversial issues. Therefore, to provide the best practice recommendations to help standardize the management of CP patients, improve treatment outcomes, and reduce variability in clinical practice, the American Society for Gastrointestinal Endoscopy (ASGE) developed and published the Guideline on the role of endoscopy in the management of chronic pancreatitis (hereinafter referred to as the Guideline) based on an extensive literature review and high-quality research evidence. The Guideline is divided into two parts: "summary and recommendations" and "methodology and review of evidence", which were published in 2024 and 2025, respectively. The Guideline outlines the effectiveness of endoscopic therapies for pain relief in CP patients, including celiac plexus block (CPB), endoscopic management of pancreatic duct stones and strictures, and the treatment of adverse events such as benign biliary strictures (BBSs) and pancreatic pseudocysts. It reviews, summarizes, and provides recommendations on six key clinical issues: whether endoscopic or surgical treatment should be used for painful CP patients; whether endoscopic ultrasound-guided or percutaneous approaches should be preferred for CPB in painful CP patients; the choice of endoscopic diagnostic and therapeutic methods for painful CP patients with main pancreatic duct stones; the type, size, and number of stents to be placed during endoscopic therapy for painful CP patients with main pancreatic duct (MPD) strictures; whether multiple plastic stents or metal stents should be placed in CP patients with benign biliary strictures; and the selection of drainage methods for CP patients with symptomatic pseudocysts. This study provides a detailed interpretation of the Guideline on the role of endoscopy in the management of chronic pancrea-titis: methodology and review of evidence, published by ASGE in 2025. It aims to deepen the understanding of the Guideline's evidence base, highlight unresolved issues, and offer clinical guidance and directions for further research. Figures and Tables | References | Related Articles | Metrics

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Interpretation of Chinese Guidelines for the Prevention and Management of Bronchial Asthma （2024 Edition） ZHOU Yan, ZHANG Min 2025, 24 (04):  415-422.  DOI: 10.16150/j.1671-2870.2025.04.008 Abstract ( 139 )   HTML ( 5 )   PDF (509KB) ( 46 )   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. Figures and Tables | References | Related Articles | Metrics

Original articles

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Diagnostic and prognostic value of combined detection of serum Hsp90α, eotaxin-2, and TRAF6 in early colorectal cancer JIANG Nan, XU Yacong, LIU Jiayao, SUN Rong, ZHENG Gaoge, XU Lingyao, YAN Chunxiao 2025, 24 (04):  423-430.  DOI: 10.16150/j.1671-2870.2025.04.009 Abstract ( 13 )   HTML ( 5 )   PDF (963KB) ( 7 )   Objective To analyze the expression and clinical diagnostic value of serum heat shock protein 90α (Hsp90α), eosinophil chemotactic protein 2 (eotaxin-2), and tumor necrosis factor receptor associated factor 6 (TRAF6) in patients with early colorectal cancer. Methods From May 2019 to December 2020, 119 patients with stage Ⅰ and stage Ⅱ colorectal cancer diagnosed by postoperative pathology admitted to our hospital were consecutively included in the colorectal cancer group. After a 3-year follow-up, surviving patients were divided into a recurrence and metastasis group and a non-recurrence and metastasis group.Additionally, 121 patients with colorectal adenoma were collected as the benign lesion group. Enzyme-linked immunosorbent assay (ELISA) method was used to detect serum levels of Hsp90α, eotaxin-2, and TRAF6. If the level was higher than the median expression level among all patients, it was defined as high expression; otherwise, it was defined as low expression. Receiver operator characteristic (ROC) curve was used to analyze the diagnostic value of serum Hsp90α, eotaxin-2, and TRAF6 in distinguishing early colorectal cancer from benign lesions and in predic-ting recurrence and metastasis in colorectal cancer patients.Thearea under the curve (AUC) was comparedusing Z-test.Kaplan-Meier method was used to analyze the relationship between these indicators and 3-year survival rate of colorectal cancer patients. Results The serum levels of Hsp90α, eotaxin-2, and TRAF6 in the colorectal cancer group were higher than those in the benign lesion group (P<0.05). In colorectal cancer patients with a tumor diameter of ≥ 5 cm and TNM stage Ⅱ, the serum levels of Hsp90α, eotaxin-2, and TRAF6 were higher than in those with a tumor diameter of<5 cm and TNM stage Ⅰ (P<0.05). The AUC for differentiating early colorectal cancer from benign lesions using serum Hsp90α, eotaxin-2, and TRAF6 alone and in combination were 0.783 (95%CI: 0.723-0.843), 0.795 (95%CI: 0.739-0.851), 0.753 (95%CI: 0.690-0.816), and 0.906 (95%CI: 0.867-0.945), respectively. The combined AUC was higher than the individual AUC of each indicator (Z=3.411, 3.151, 4.054, P<0.05), with sensitivity values of 52.99%, 85.73%, 73.12%, and 86.68%, and specificity of 75.98%, 59.52%, 71.12%, and 82.62%, respectively.The diagnostic thresholdsfor Hsp90α, eotaxin-2, and TRAF6 were 178.27 ng/mL, 198.77 pg/mL, and 3.49 μg/mL, respectively. A total of 119 colorectal cancer patients were followed up for 3 years, with 92 surviving (including 14 survivors withrecurrence and metastasis) and 27 dying due to recurrence and metastasis. The 3-year survival rate of patients with high serum expression of Hsp90α, eotaxin-2, and TRAF6 were 62.07%, 61.67% and 65.57%, which were lower than that of patients with low expression, which were 91.80%, 93.22% and 89.66% (P<0.05). The serum levels of Hsp90α, eotaxin-2, and TRAF6 in colorectal cancer patients with recurrence and metastasis were higher than those in the non-recurrence and metastasis group (P<0.05). The AUC for predicting colorectal cancer recurrence and metastasis using serum Hsp90 α, eotaxin-2, and TRAF6 alone and in combination were 0.836 (95%CI: 0.760-0.911), 0.701 (95%CI: 0.597-0.804), 0.821 (95%CI: 0.741-0.900), and 0.968 (95%CI: 0.934-0.998), respectively. The combined AUC was higher than the individual AUC of each indicator alone (Z=3.073, 4.770, 3.351, P<0.05). Conclusion The serum levels of Hsp90α, eotaxin-2, and TRAF6 are higher in patients with early colorectal cancer, and they are associated with the patient’s prognosis. The combination of these three is expected to serve as clinical auxiliary diagnostic and prognostic markers. Figures and Tables | References | Related Articles | Metrics

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Three disintegrin-like domain mutations of ADAMTS13： functional deficiency and association with thrombosis LIN Liya, WU Xi, MAO Yinqi, CHEN Guangming, WU Wenman, DAI Jing, WANG Xuefeng, DING Qiulan 2025, 24 (04):  431-440.  DOI: 10.16150/j.1671-2870.2025.04.010 Abstract ( 27 )   HTML ( 1 )   PDF (1787KB) ( 6 )   Objective To analyze the genotypic and phenotypic characteristics of four thrombotic patients carrying heterozygous mutations in the disintegrin-like domain of ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs 13), and to explore the association between ADAMTS13 deficiency and thrombosis. Methods Thrombophilia-related gene mutations were screened in thrombosis patients using a thrombophilia gene panel, identifying four thrombophilia pedigrees carrying mutations in the ADAMTS13 disintegrin-like domain. Coagulation function was assessed using clotting tests. Antigen and activity of von Willebrand factor (vWF) were measured using immunoturbidime-try, and its collagen-binding capacity was measured using enzyme-linked immunosorbent assay (ELISA). The distribution of vWF multimers was analyzed by SDS-agarose gel electrophoresis with gray value semi-quantitative analysis. ADAMTS13 activity in plasma was measured by fluorescence resonance energy transfer assay, and its antigen levels were quantified via ELISA. Comparative analysis of three-dimensional structures between wild-type and mutant ADAMTS13 proteins was performed using PyMOL software. Results The probands from four pedigrees experienced thrombotic events of varying seve-rity, including cerebral venous sinus thrombosis, pulmonary embolism, and lower extremity deep vein thrombosis. Mutations in the ADAMTS13 disintegrin-like domain accounted for approximately 4/87 of ADAMTS13 heterozygous mutations. Genetic analysis showed that all four probands carried heterozygous mutations in the ADAMTS13 disintegrin-like domain (p.Pro301Ala, p.Pro301Arg, p.Arg349Cys), with p.Pro301Ala and p.Pro301Arg being newly reported. Coagulation tests demonstrated significantly reduced ADAMTS13 activity and antigen levels (Act: 57.42%-72.88%, Ag: 66.94%-78.34%), and elevated vWF activity and antigen levels (Act: 158.2%-213.7%, Ag: 167.2%-216.6%). Electrophoretic analysis of vWF multimers showed a significantly increased proportion of high-molecular-weight multimers (HMWMs) in patient plasma (Gray value: 166.6-218.9 vs 117.4), indicating markedly elevated HMWMs compared to normal controls. Structural analysis further suggested that the mutation sites were located in critical regions of the ADAMTS13 disintegrin-like domain, potentially disrupting protein stability and its binding capacity with vWF. Conclusion This study first reports two novel missense mutations—Pro301Ala and Pro301Arg—located in the disintegrin-like domain of the ADAMTS13 protein, and further verifies the pathogenic characteristics of the known Arg349Cys mutation. The results demonstrate that these mutations result in reduced ADAMTS13 protein expression levels and significantly decreased enzymatic activity, as evidenced by impaired cleavage capacity of high-molecular-weight vWF multimers. Functional tests confirm abnormally increased vWF multimers in patients, disrupting the dynamic balance of the ADAMTS13-vWF axis and consequently increasing thrombotic risk. Figures and Tables | References | Related Articles | Metrics

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Analysis of risk factors for poor prognosis in patients with hospital-acquired bacterial meningitis and establishment of nomogram prediction model YANG Mei, LIAO Qi'an, TAN Quanhui, LI Tingting, ZHANG Yi, CHEN Jie, TANG Zhenghao 2025, 24 (04):  441-448.  DOI: 10.16150/j.1671-2870.2025.04.011 Abstract ( 27 )   HTML ( 2 )   PDF (719KB) ( 4 )   Objective To explore the risk factors for poor prognosis in patients with hospital-acquired bacterial me-ningitis (HABM) and to establish a nomogram model to predict its occurrence. Methods A total of 110 patients with HABM admitted to Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from January 1, 2013 to December 31, 2020 were consecutively enrolled. Based on survival status at discharge, they were divided into a death group (n=22) and a survival group (n=88). Subsequently, 110 patients were randomly divided into a training cohort (n=77) and a validation cohort (n=33). The least absolute shrinkage and selection operator (LASSO) regression and multivariate logistic regression were used to identify risk factors for poor prognosis in patients with HABM. A nomogram model was constructed based on these risk factors. The area under the curve (AUC) of the receiver operating characteristic (ROC) curve was used to evaluate the model discrimination, and the calibration curve was used to evaluate the internal consistency of the model. Results Based on the LASSO regression, seven factors were identified: gram-positive staining of microorga-nisms in cerebro-spinal fluid (CSF) culture, elevated neutrophil count on routine blood tests, elevated procalcitonin, elevated CSF protein, decreased prothrombin time, positive blood culture, and history of lumbar drainage. A nomogram prediction model for poor prognosis in HABM patients was established. The areas under the ROC curves for the training cohort and the validation cohort were 0.931 and 0.862, respectively. The calibration plots demonstrated that the calibration curves showed good agreement with the ideal curves, indicating an excellent goodness of fit. Conclusions The risk factor-based nomogram model established in this study demonstrates good predictability, consistency, and clinical applicability for predicting mortality in hospitalized HABM patients, supporting clinicians in the preliminary assessment of the risk of poor prognosis. Figures and Tables | References | Related Articles | Metrics

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Analysis of clinical characteristics of patients with resistant hypertension in primary aldosteronism MA Yu, WU Qihong, KANG Yuanyuan, HONG Mona, TANG Xiaofeng, GAO Pingjin, XU Jianzhong, WANG Jiguang 2025, 24 (04):  449-454.  DOI: 10.16150/j.1671-2870.2025.04.012 Abstract ( 21 )   HTML ( 4 )   PDF (1186KB) ( 3 )   Objective To compare the clinical characteristics of resistant hypertension (RH) in patients with primary aldosteronism (PA) and essential hypertension (EH), and to analyze the risk factors associated with RH. Methods From January 2010 to December 2014, a total of 2 138 consecutive patients referred to our department for screening the causes of hypertension were enrolled. The prevalence of RH was calculated. Among them, 385 patients (18.0%) were classified into the PA group, and 385 patients with EH matched based on age, gender, blood pressure (BP) levels were selected as the EH group. The prevalence of RH and general clinical data between the two groups were compared, and the relationship between RH and left ventricular hypertrophy (LVH) in patients with PA and EH was analyzed. Multiple linear regression analysis was used to identify risk factors for RH. Results RH accounted for approximately 26.0% (556/2 138) of the inpatients in the department of hypertension, and 9.2% (51/556) of these RH patients were diagnosed with PA. The prevalence of RH in the PA group was significantly lower than that in the EH group (13.2% vs 35.3%, P<0.001). There was no significant difference in the incidence of LVH between RH and non-RH patients in the PA group (59.3% vs 56.9%). In the EH group, the incidence of LVH was much higher in RH patients than in non-RH patients (54.3% vs 30.1%, P<0.05). Multivariate regression analysis showed that office systolic blood pressure, male gender, and diabetes were independent risk factors for RH in PA patients. The occurrence of RH in the EH group was independently correlated with age, hypertension course, LVH, and creatinine level (P<0.05). Conclusions The prevalence of RH among hypertensive inpatients is approximately 26.0%. In PA and EH patients with comparable BP levels, the prevalence of RH is higher in EH patients, while the incidence of LVH is higher in PA patients and is not related to the presence of RH. In the EH group, RH patients have a higher incidence of LVH than non-RH patients. Office systolic blood pressure, male gender, and diabetes are important predictive factors for RH in PA patients. Figures and Tables | References | Related Articles | Metrics

Case reports

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A case report of Waardenburg syndrome with primary amenorrhea and short stature， and a review of literature YAO Xin, LI Mengjie, YE Shandong, ZHENG Mao 2025, 24 (04):  455-458.  DOI: 10.16150/j.1671-2870.2025.04.013 Abstract ( 25 )   HTML ( 4 )   PDF (1274KB) ( 11 )   This article reports a case of a 17-year-old female patient who presented with absent secondary sexual characteristics and primary amenorrhea. The patient's clinical manifestations included hearing loss, blue irides, and telecanthus, accompanied by short stature, bilateral cubitus valgus, and shield-shaped chest. Laboratory tests indicated hypogonadotropic hypogonadism with partial growth hormone deficiency, and ultrasound revealed a rudimentary uterus. Whole-exome sequencing identified a c.1029dup (p.Thr344Hisfs*58) mutation in the SOX10 gene, confirming the diagnosis of Waardenburg syndrome (WS). Sanger sequencing confirmed that this was a de novo mutation, which has not been reported in public databases. Family investigation showed that the mutation was not detected in peripheral blood samples from the patient's parents. This mutation expands the genetic mutation spectrum and clinical data of WS. In cases of unexplained hearing impairment, abnormal pigmentation, and growth retardation in children, SOX10 gene mutation should be conside-red, and genetic testing should be performed early to establish a diagnosis. Figures and Tables | References | Related Articles | Metrics

Medical education

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Application of a flipped classroom-based approach in imaging diagnosis teaching to improve clinical thinking among residents TANG Yan, PAN Pei, WANG Xinbei, CHEN Ya, WU Yingwei 2025, 24 (04):  459-463.  DOI: 10.16150/j.1671-2870.2025.04.014 Abstract ( 22 )   HTML ( 1 )   PDF (651KB) ( 5 )   Figures and Tables | References | Related Articles | Metrics