Online FirstList of IssuesDocument Types

Volume46,Issue4,2025
Issue CoverIssue Contents

    Guideline and Consensus

  • Subcommittee on Pediatric Endocrine and Genetic Metabolism, Guangdong Health Care Association
    Vol. 46, Issue 4, Pages: 541-557(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).20250707.001
    Abstract:The rising incidence of overweight and obesity among children and adolescents has become a significant public health issue both domestically and globally. In South China, the rates of overweight and obesity among children and adolescents are relatively low compared with the national average, thanks to the unique regional climate, culture, and dietary habits, which are conducive to the prevention and control of childhood and adolescent overweight and obesity. This consensus, based on practical experiences in weight management for overweight and obese children and adolescents in South China, in combination with evidence-based medical research, systematically establishes a standardized diagnosis and treatment framework for childhood and adolescent overweight and obesity. It covers core aspects such as diagnosis and assessment, lifestyle interventions, behavioral interventions, pharmacological treatment and traditional Chinese medical therapies. This consensus incorporates regional characteristics into the management framework for childhood and adolescent overweight and obesity, aiming to provide clinicians with scientifically sound and practical guidance, and to offer a regional model for curbing the growing trend of childhood obesity.  
    Keywords:children;adolescents;overweight;obesity;South China  
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    Hot Spot Tracking: Cell Death

  • Research Progress on Relationship between Cuproptosis and Atherosclerosis and its Targeted Therapy

    ZHANG Zilu, QIN Hewei
    Vol. 46, Issue 4, Pages: 558-567(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0402
    Abstract:Atherosclerosis (AS), a chronic and multifactorial vascular disease, involves diverse pathological processes including dyslipidemia, reactive oxygen species (ROS) generation, inflammatory cell infiltration, and local thrombosis. In recent years, cuproptosis, a novel form of copper-dependent programmed cell death, has attracted considerable attention. It is primarily triggered by the binding of excessive copper ions to lipoylated proteins, resulting in disruption of the tricarboxylic acid (TCA) cycle, damage to iron-sulfur cluster proteins, and consequent functional impairment of related enzymes and proteins, ultimately inducing cell death through multiple pathways. Previous studies have revealed the close association between cuproptosis and AS pathogenesis. Cuproptosis promotes ROS production, induces lipid peroxidation via the Fenton reaction, triggers inflammatory responses and disrupts mitochondrial TCA cycle, thereby compromising the functions of vascular cells (macrophages, endothelial cells, and smooth muscle cells), destabilizing plaques and exacerbating AS progression. Therefore, targeting cuproptosis may present a new direction for AS treatment and its complication prevention. Specifically, cuproptosis-related genes may serve as potential diagnostic biomarkers for AS, and pharmacological inhibition of cuproptosis has been shown to significantly modulate disease progression, highlighting the potential value of targeting cuproptosis in AS management. This review systematically summarizes the molecular mechanisms of copper metabolism and cuproptosis, their pathophysiological roles in AS, and recent advances in targeting cuproptosis for AS diagnosis and treatment, aiming to provide novel insights into clinical strategies for AS prevention and therapy.  
    Keywords:cuproptosis;atherosclerosis;copper metabolism;inflammation;targeted therapy  
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  • HAN Ying, HU Dandan
    Vol. 46, Issue 4, Pages: 568-573(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0403
    Abstract:Acute lung injury (ALI) is a disease that seriously threatens the lives and health of people globally. Its primary pathological features include damage to alveolar epithelial cells and pulmonary capillary endothelial cells, leading to diffuse interstitial pulmonary edema and alveolar edema, often accompanied by acute hypoxemic respiratory insufficiency. Endoplasmic reticulum stress (ERS) plays a crucial role in the occurrence and development of ALI. It exacerbates ALI through multiple pathways. In terms of apoptosis, key proteins such as glucose-regulated protein 78(GRP78),C/EBP homologous protein (CHOP), and caspase-12 promote the apoptosis of pulmonary vascular endothelial cells and alveolar epithelial cells, thus aggravating lung tissue damage. In terms of reactive oxygen species (ROS) metabolism, ERS induces massive ROS release with involvement of NADPH oxidase. ROS directly impair pulmonary endothelial cells, leading to fluid leakage and worsening lung injury. In terms of the inflammatory response, ERS activates neutrophils. The interaction between complement-derived C5a and C5aR on neutrophils induces ERS, thereby amplifying lung inflammation. In terms of the ferroptosis pathway, ERS exacerbates the ferroptosis in alveolar epithelial cells, mediated by interactions between Mfn-2 and IRE1-α. Therefore, targeted interventions against ERS, such as the use of chemical chaperones or specific signaling pathway inhibitors, may provide new directions for the treatment of ALI and improve the prognosis of the patients and their quality of life. This paper comprehensively investigates the association between ERS and ALI to elucidate the underlying pathogenesis, providing useful support for better prevention and clinical management of ALI.  
    Keywords:acute lung injury;pathogenesis;endoplasmic reticulum stress;reactive oxygen species;exacerbation  
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  • Research Progress on PANoptosis in Ischemia-reperfusion Injury Diseases

    GAO Xiang, FENG Bo
    Vol. 46, Issue 4, Pages: 574-582(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0404
    Abstract:PANoptosis, a newly characterized form of programmed cell death, exhibits hybrid molecular features of pyroptosis, apoptosis, and necroptosis, orchestrated by upstream PANoptosomes. This process is critically implicated in the pathophysiological progression of infectious and inflammatory disorders. Previously, these pathways of programmed cell death were considered mutually exclusive signaling systems. Previously advanced molecular interrogation has revealed intricate cross-regulatory networks among them. Researchers have formally defined this inter-pathway communication mechanism as PANoptosis. Emerging evidence implicates PANoptosis in diverse human pathologies, including infectious diseases, neurological disorders, and malignancies. Notably, PANoptosis has emerged as a critical modulator of ischemia-reperfusion injury (IRI)-associated pathologies, though its precise regulatory mechanisms remain incompletely delineated. A comprehensive understanding of the research advances in PANoptosis within IRI-related pathologies, coupled with the systematic elucidation of its regulatory mechanisms, holds transformative potential for therapeutic breakthroughs in disease management. As a feasible intervention target, PANoptosis has proven promising in studies and become a focus of intense research. This comprehensive review critically analyzes current knowledge on PANoptosis, including its definitions, molecular hallmarks, regulatory mechanisms, and pathophysiological correlations in IRI, to catalyze the development of transformative therapeutic strategies and pertinent medications for IRI management.  
    Keywords:PANoptosis;PANoptosome;ischemia-reperfusion injury;programmed cell death;review  
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    Review

  • TAN Ya, JIANG Meng
    Vol. 46, Issue 4, Pages: 583-597(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0405
    Abstract:Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by early onset, high prevalence, and typically lifelong impact. A significant body of empirical research has focused on language impairments, a hallmark feature of ASD, aiming to identify its potential neuroimaging biomarkers via neuroimaging techniques. This paper systematically reviews international neuroimaging studies on language impairments in ASD over the past 15 years from a life stage perspective. It explores research progress on four potential neuroimaging biomarkers—structure/structural connectivity, function/functional connectivity, neural oscillations, and electroencephalogram (EEG)/magnetoencephalography (MEG) components—related to syllable perception, phonetic perception, lexical comprehension, sentence comprehension, discourse comprehension, lexical production, and overall language abilities in ASD patients across different life stages, including infancy, childhood, adolescence, middle age, and old age. By analyzing these biomarkers in detail across various age groups, the review not only provides a comprehensive theoretical framework and the latest trends from a neuroimaging perspective, deepening the understanding of the neural mechanisms underlying language impairments in ASD, but also offers a scientific basis for developing personalized intervention and treatment strategies. Furthermore, the integration of these neuroimaging biomarkers across different age stages with artificial intelligence technology holds promise for age-specific screening, diagnosis, and prognostic evaluation, thereby improving the accuracy of diagnosis and prognosis. In summary, this review provides valuable input for advancing research on ASD and its application in clinical practice.  
    Keywords:life stagse;autism spectrum disorder patients;language impairments;neuroimaging techniques;potential neuroimaging biomarkers  
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  • Clinical Application of Ischemia-free Liver Transplantation

    ZHU Mingqiang, WANG Xiaohua
    Vol. 46, Issue 4, Pages: 598-606(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0406
    Abstract:Liver transplantation remains the optimal clinical treatment for patients with terminal liver diseases. Decades of persistent efforts from experts worldwide have propelled continuous innovation and advancement in this field. Chinese liver transplantation teams have achieved significant progress in the clinical liver transplantation. As organ transplantation enters its Era 2.0, ischemia-free organ transplantation has been expanded beyond the liver to include heart, lung, kidney and other transplantations, demonstrating broad application potential. Ischemia-free liver transplantation (ILFT) mitigates cell damage and postoperative complications associated with ischemia-reperfusion injury by maintaining continuous blood perfusion of the donor liver throughout procurement, preservation, and transplantation. This innovation also expands the utilization of marginal donor livers (e.g., those from aged donors or with adipose infiltration), thereby alleviating donor shortage. Despite these advantages, ILFT faces challenges, including technical complexity, high equipment costs, and the absence of large-scale, multicenter long-term follow-up data. More effort should be put into optimizing portable perfusion systems, establishing standardized protocols, and investigating the synergistic potential of ILFT with immunomodulatory therapies. As the ILFT technology matures, it will improve liver transplantation outcomes, expand the donor pool, and enhance recipients’quality of life. This review presents the development of ILFT, criteria for donor and recipient selection, surgical techniques, and postoperative complications to lay a foundation for its broader clinical application.  
    Keywords:liver transplantation;ischemia-reperfusion injury;ischemia-free;selection of donor and recipient;marginal donor liver;postoperative complications  
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    Preclinic Research

  • TANG Rongsui, TIAN Yi, XIONG Zhen, LI Xuri
    Vol. 46, Issue 4, Pages: 607-618(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).20250512.001
    Abstract:ObjectiveTo investigate the effects of targeted inhibition of growth differentiation factor 3 (GDF3) on choroidal neovascularization (CNV) and endothelial inflammatory response.MethodsA laser-induced CNV mouse model was established, and differentially expressed genes were screened by RNA sequencing (RNA-seq). GDF3 expression was validated by real-time fluorescence quantitative PCR(RT-qPCR) and Western blot. GDF3 in endothelial cells was antagonized by siRNA and neutralizing antibodies. Functional assays including CCK8 assay, scratch assay, and tube formation assay were performed to assess endothelial cell proliferation, migration, and angiogenic capacity. The expression changes of inflammatory/adhesion molecules were measured, and immune cell adhesion and transendothelial migration were analyzed. In the CNV model, shRNA was intravitreally injected to suppress GDF3 expression, with CNV lesions and immune cell infiltration quantified by immunofluorescence staining.ResultsGDF3 expression was significantly upregulated in CNV tissues (P<0.001). In vitro GDF3 intervention markedly suppressed endothelial cell proliferation (P<0.001), migration (P<0.001), and angiogenesis (P<0.01), downregulated the expression of inflammatory/adhesion molecules (P<0.001), and significantly reduced immune cell adhesion (P<0.001) and transendothelial migration (P<0.001). In vivo experiments confirmed that targeted inhibition of GDF3 significantly attenuated CNV formation (P<0.001) and decreased immune cell infiltration (P<0.001).ConclusionTargeted inhibition of GDF3 concurrently attenuates endothelial inflammatory response and pathological angiogenesis, potentially through modulating the inflammatory microenvironment. These findings provide novel insights for the treatment of wet age-related macular degeneration (wAMD).  
    Keywords:age-related macular degeneration;choroidal neovascularization;growth differentiation factor 3;vascular endothelial cell;inflammation  
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  • MA Zhixuan, NIU Zhen, YANG Liang, WU Xiaojie, WU Zhongdao, FENG Ying
    Vol. 46, Issue 4, Pages: 619-627(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0408
    Abstract:ObjectiveTo investigate the protective effect of overexpressed miRNA-200a&c on Angiostrongylus cantonensis-induced demyelinating optic neuritis in Balb/c mice.MethodsSPF-grade Balb/c mice (2-3 weeks old) were divided into four groups: a normal group, and three A. cantonensis-infected groups at 7, 14, and 21 days post-infection (dpi). Body weight, survival status, neurobehavioral scores, and visual function scores were recorded. Visual evoked potential (VEP) was used to detect visual damage, and transmission electron microscope (TEM) was applied to observe ocular structural changes. On day 7 post-infection, mice were stereotactically injected with exogenous miRNA-200a&c mimics into the lateral ventricle, and then divided into four groups: normal control, A. cantonensis-infected (AC-21 dpi), A. cantonensis-infected + negative control (AC+NC), and A. cantonensis-infected + overexpressed miRNA-200a&c (AC+miRNA-200a&c) mimics. VEP and TEM were repeated to assess visual damage and ocular structural changes. Immunofluorescence was performed to quantify retinal ganglion cells (RGCs) and oligodendrocytes (OLs) in the optic nerve.ResultsAt 21 dpi, some mice exhibited complete eyelid closure (32.52±4.67)% or ocular atrophy (15.79±3.23)%, weight loss (P<0.05) and altered consciousness. Neurobehavioral scores significantly decreased (P<0.01), with a 68% decline in rotarod performance; some mice even displayed hemiplegia, slowed movement, ataxia, and directional deficits. Additionally, a subset of mice showed diminished sensory responses, unilateral vision loss (83% reduction in optokinetic threshold), and impaired visual function (P<0.05). VEP results revealed a mild prolongation of latency in infected mice at 21 dpi (P<0.05), predominantly affecting one eye. Following overexpression of miRNA-200a&c, compared with the 21 dpi group, VEP showed significantly shortened P1 latency (P<0.05); TEM showed alleviated cytoplasmic swelling of RGCs, and improved compactness and uniformity of myelin sheath (P<0.05); immunofluorescence showed increased numbers of RGCs and OLs with improved cell alignment (P<0.05).ConclusionsA. cantonensis infection induces demyelinating optic neuritis in Balb/c mice. Overexpression of miRNA-200a&c alleviates the resulting damage and ameliorates ocular injury.  
    Keywords:miRNA-200a;miRNA-200c;demyelinating optic neuritis;retinal ganglion cells;oligodendrocytes  
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  • WANG Meilan, ZHAO Tianqi, SHI Qi, HAO Lili, LIU Lian
    Vol. 46, Issue 4, Pages: 628-638(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0409
    Abstract:ObjectivesTo investigate the effect of METTL3 on the malignant biological behaviors of uveal melanoma cells and to verify whether this effect is related to m6A methylation.MethodsUveal melanoma cell models with METTL3 knockdown, overexpression, and point mutations at m6A-related catalytic sites were constructed via lentivirus transfection. Transwell assays were used to assess cell migration and invasion; CCK8 assays were used to measure cell proliferation and flow cytometry was used to analyze apoptosis and cycle changes.ResultsThe proliferation, migration and invasion abilities of C918 and MUM-2B cells with METTL3 knockdown were significantly decreased ( P < 0.001 ), while the apoptosis rate was increased. The proportion of cells in G1 phase significantly increased, whereas the proportion in the S phase significantly decreased. Cells overexpressing METTL3 showed significantly enhanced proliferation, migration and invasion abilities ( P < 0.001 ), along with a decreased apoptosis rate. In C918 cells, the proportion of cells in G1 phase decreased significantly, while the proportion in S phase increased significantly. The cell cycle distribution of MUM-2B cells did not change remarkably. Following point mutation of m6A-related catalytic sites, cell proliferation, migration and invasion decreased, and the apoptosis rate increased. In MUM-2B cells, the percentage of cells in G1 phase significantly increased; the percentage in S phase significantly decreased and the percentage in G2 phase slightly decreased. In C918 cells, the percentage of G1 phase cells significantly increased, with no significant changes in the proportions of S and G2 phases.ConclusionsThe proliferation, invasion and metastasis of uveal melanoma cells were positively correlated with the expression of METTL3, while the apoptosis rate was negatively correlated. Changes in METTL3 levels differentially affect the cell cycles in different cell lines. The effects of METTL3 on the proliferation, migration and invasion of uveal melanoma cells are related to m6A methylation modification.  
    Keywords:uveal melanoma;methyltransferase-like protein 3;N6-methyladenosine;proliferation;invasion  
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  • The Mechanism of Methionine Sulfoxide Reductase A in Invasion and Metastasis of Renal Clear Cell Carcinoma

    LIU Hongxiang, LIU Xihai, CHEN Minjian, ZHONG Weide
    Vol. 46, Issue 4, Pages: 639-650(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0410
    Abstract:ObjectiveThis study aims to investigate the effects of methionine sulfoxide reductase A(MSRA) on the proliferation, apoptosis, invasion, and metastasis of clear cell renal cell carcinoma (ccRCC) through cellular and animal experiments to elucidate its potential biological mechanisms, providing new molecular targets and strategies for the treatment of ccRCC.MethodsMSRA-overexpressing cell lines were constructed with transfection. The effects of MSRA on the proliferation, apoptosis, invasion, and migration of ccRCC cells were assessed through proliferation assays, colony formation assays, apoptosis assays, wound healing assays, and invasion assays. Further, the mechanisms and related signaling pathways were explored via ROS detection, RT-qPCR, and Western blot. Subsequently, a subcutaneous xenograft mouse model was employed to verify the effect of MSRA on ccRCC tumor growth and metastasis at the animal level to explore its potential molecular mechanisms.ResultsThe mRNA and protein expressions of MSRA in OS-RC-2 and 786-O cell lines were low (RT-qPCR: 0.57±0.09, 0.56±0.04; WB: 0.26±0.13, 0.24±0.09). RT-qPCR and Western blot experiments confirmed the successful construction of OS-RC-2-pLVSO2-MSRA (RT-qPCR: 108.04±1.80; WB: 117.01±20.19) and 786-O-pLVSO2-MSRA (973.45±51.37; WB: 190.34±30.13) overexpressed cell lines, with statistically significant differences (P<0.001). Proliferation assays showed reduced proliferation in OS-RC-2-pLVSO2-MSRA (72 h: 1.246±0.003) and 786-O-pLVSO2-MSRA (72 h: 1.468±0.001), with significant differences (P<0.001). Colony formation assays revealed a decrease in colony numbers in OS-RC-2-pLVSO2-MSRA (0.090±0.002) and 786-O-pLVSO2-MSRA (0.080±0.002), with significant differences (P<0.001). Apoptosis assays demonstrated increased apoptosis rates in OS-RC-2-pLVSO2-MSRA (2.013±0.116) and 786-O-pLVSO2-MSRA (4.767±0.199), with significant differences (P<0.001). Wound healing assays indicated less migration distance in OS-RC-2-pLVSO2-MSRA (0.643±0.028) and 786-O-pLVSO2-MSRA (0.603±0.034), with significant differences (P<0.001). Transwell assays showed a reduction in the numbers of penetrative cells in OS-RC-2-pLVSO2-MSRA (16.80±2.28) and 786-O-pLVSO2-MSRA (21.40±4.78), with significant differences (P<0.001). Fluorescence assays indicated a decreased ROS levels in OS-RC-2-pLVSO2-MSRA (50.59±6.24) and 786-O-pLVSO2-MSRA (62.87±5.35), with significant differences (P<0.001). Western blot analysis showed a decrease in the expression of N-cadherin and Vimentin, and an increase in the expression of E-cadherin in OS-RC-2-pLVSO2-MSRA and 786-O-pLVSO2-MSRA (P<0.001). Western blot analysis revealed a significant decrease in the expression levels of p-ERK1/2 and p-SMAD3 in OS-RC-2-pLVSO2-MSRA and 786-O-pLVSO2-MSRA (P<0.001). Animal experiments showed reduced tumor volumes in OS-RC-2-pLVSO2-MSRA (155.00±50.46), with significant differences (P<0.001). Western blot analysis of tumor tissues from animals confirmed the decreased expression of N-cadherin and Vimentin, and the increased expression of E-cadherin, with significant differences (P<0.001). IHC experiments of OS-RC-2-pLVSO2-MSRA tumors revealed a decrease in the expression of Ki-67, N-cadherin, and Vimentin, and an increase in the expression of E-cadherin, with significant differences (P<0.001).ConclusionMSRA overexpression inhibits ROS expression in ccRCC, suppresses the EMT process, and consequently inhibits the proliferation, invasion, and metastasis of ccRCC.  
    Keywords:clear cell renal carcinoma;methionine sulfoxide reductase A;reactive oxygen species;epithelial-mesenchymal transition;tumor metastasis  
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    Clinical Research

  • Clinical Characteristics of Patients with Elderly-onset Crohn’s Disease

    LIN Jue, ZHI Min, ZHANG Min
    Vol. 46, Issue 4, Pages: 651-659(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0411
    Abstract:ObjectiveThe incidence and disease burden of elderly-onset Crohn’s disease (EOCD) have been increasing annually, yet prior research remains limited. This study analyzed the clinical characteristics of EOCD patients and compared them with those of non-elderly-onset Crohn’s disease (non-EOCD) patients, aiming to provide evidence for the clinical diagnosis and treatment of EOCD.MethodsA single-center retrospective case-control study was conducted among enrolled patients with Crohn’s disease (CD) diagnosed at the Sixth Affiliated Hospital of Sun Yat-sen University between July 2011 and July 2020. Propensity score matching (1∶3) was applied to eliminate confounding effects between groups. Multidimensional comparisons were performed to reveal differences in disease phenotype, comorbidity spectrum, treatment response, prognosis, and healthcare resource utilization between the elderly-onset (EO) group (≥ 60 years, n=17) and the non-elderly-onset (non-EO) group (18-59 years, n=51).ResultsAt initial diagnosis, the EO group predominantly presented with L3 (70.6%), B1 (58.8%), and mild activity (76.5%), without upper gastrointestinal involvement. Compared with the non-EO group, the EO group had a significantly longer diagnostic delay (21.9 vs. 14.8 months, P=0.019), a lower rate of perianal lesions (11.8% vs. 54.9%, P=0.002), but a higher prevalence of comorbidities such as hypertension (23.5% vs. 0%), chronic kidney disease (11.8% vs. 2.0%), and malignancy history (17.6% vs. 0%). During an average follow-up of 72.0±33.7 months, the EO group reported higher rates of abdominal pain (35.3% vs. 17.6%, P<0.05), bloating (11.8% vs. 3.9%, P<0.05), weight loss (11.8% vs. 3.9%, P<0.05), longer intervals between dose adjustments (33.56±33.91 vs. 21.41±30.12 months, P<0.05), and more annual hospitalizations (1.12 vs. 0.22, P<0.05).ConclusionsEOCD patients primarily exhibit mild disease activity and have fewer risk factors for poor prognostic such as upper gastrointestinal involvement and perianal lesions, resulting in a relatively stable disease phenotype. However, EOCD is associated with significant diagnostic delays, more comorbidities, suboptimal symptom control, and a higher potential of healthcare resource utilization. These findings underscore the need to enhance clinicians' awareness of EOCD and implement a comprehensive management model with multidisciplinary collaboration.  
    Keywords:Crohn’s Disease;elderly-onset;clinical characteristic;diagnostic delay;prognosis  
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  • LIANG Huilin, XU Zhicong, ZHANG Liang, CAO Dan
    Vol. 46, Issue 4, Pages: 660-666(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0412
    Abstract:ObjectiveTo quantify lesion parameters in different retinal regions on ultra-widefield fluorescein angiography (UWFA) images of patients with diabetic retinopathy (DR) and to explore their association with center-involved diabetic macular edema (CI-DME).MethodsWe retrospectively analyzed UWFA and optical coherence tomography (OCT) images from 76 DR patients (101 eyes) initially diagnosed at Guangdong Provincial People’s Hospital between June 2022 and June 2024. All images were captured on the same day. Eyes were classified into CI-DME and non-CI-DME groups based on central subfield thickness (CST) measured by OCT. Manual annotations of microaneurysms, non-perfusion areas, leakage areas, optic discs, and foveae were performed on UWFA images. Lesion parameters, including microaneurysm count, ischemic index, and leakage index, were quantified in the macular area, posterior area, mid-periphery, peripheral retina, and entire UWFA field. Differences in parameters between groups were compared, and their associations with CI-DME and diagnostic performance were assessed.ResultsThe CI-DME group exhibited significantly higher microaneurysm count, ischemic index and leakage index in the macular area than those in the non-CI-DME eyes (all P < 0.05). No significant differences were observed in these parameters in the peripheral retina between the two groups (all P>0.05). ROC curve analysis showed that the leakage index could distinguish CI-DME better than the microaneurysm count and ischemia index. The macular leakage index had the highest discriminative ability, with an AUC of 0.80 (95% CI: 0.71, 0.89).ConclusionThis study found no significant association between peripheral lesion parameters on UWFA and CI-DME. However, macular lesion parameters, particularly the leakage index, were closely linked to CI-DME pathology. These findings highlight the importance of monitoring macular vascular stability to optimize clinical management for DME patients.  
    Keywords:diabetic retinopathy;center-involved diabetic macular edema;ultra-widefield fluorescein angiography;quantitative analysis;microaneurysm count;ischemic index;leakage index  
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  • LI Cuiling, LEI Xinli, XIAO Fei, FAN Rui, LIAO Siying, LIU Donghong, LIN Hong, YAO Fengjuan
    Vol. 46, Issue 4, Pages: 667-675(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0413
    Abstract:ObjectiveTo evaluate the utility of left atrial (LA) volume and strain measured by 4D auto left atrial quantification (4D auto LAQ) in differentiating pre-capillary from post-capillary pulmonary hypertension (PH), and to compare its discriminative performance with echocardiographic pulmonary to left atrial global strain ratio (ePLAGS).MethodsA total of ninety-eight subjects with intermediate to high probability of PH were prospectively enrolled. Clinical history and laboratory data were collected. All patients underwent comprehensive transthoracic echocardiography, and LA volume and strain parameters were measured by dedicated commercial software for LA 4D analysis.ResultsBased on pulmonary arterial wedge pressure,patients were divided into pre-capillary PH group [n=39; mean age (53±24) years] and post-capillary PH group [n=59; mean age (57±18) years]. Compared to the pre-capillary PH group, the post-capillary PH group showed significantly higher LAVImax, LAVImin and LAVIpreA but markedly lower LASr and LAScd . Multivariate logistic regression identified LAVImax [OR: 1.40; 95% CI: (1.052,1.872); P= 0.021] and LAScd [OR: 1.76; 95% CI: (1.183,2.489); P=0.004] as independent predictors of post-capillary PH. ROC analysis demonstrated that LAVImax (AUC=0.82, P<0.001) and LAScd (AUC=0.78, P<0.001) had strong discriminating power for predicting post-capillary PH group, with optimal cutoff values of 35.69 mL/m2 (sensitivity 86%, specificity 74%) and -9% (sensitivity 80%, specificity70%).ConclusionLAVImax and LAScd measured with 4D auto LAQ are robust parameters for distinguishing pre-capillary PH from post-capillary PH.  
    Keywords:echocardiography;4D LAQ;left atrial volume;left atrial strain;pulmonary to left atrial ratio  
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  • CAI Xinni, YU Shenping, YANG Xinyue
    Vol. 46, Issue 4, Pages: 676-685(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0414
    Abstract:ObjectiveTo evaluate the diagnostic value of quantitative diffusion kurtosis imaging (DKI) parameters in discriminating metastatic from non-metastatic regional lymph nodes in rectal cancer.MethodsTotally 116 patients who underwent preoperative DKI scanning and radical rectal cancer surgery without neoadjuvant therapy between January 2015 and August 2016, and 285 lymph nodes, including metastatic lymph nodes (MLNs, n=104) and non-metastatic lymph nodes (NMLNs, n=181), were analyzed. The short-axis diameter (S), apparent diffusion coefficient (ADC), mean kurtosis coefficient (MK), and mean diffusion coefficient (MD) were compared between the two groups, with S=5.5 mm as a cutoff value. Receiver operating characteristic (ROC) curves were utilized to assess diagnostic efficiency and determine optimal cutoff values.ResultsMetastatic lymph nodes exhibited significantly higher S, ADC, and MD values (P<0.05),but markedly lower MK values (P<0.01) compared with non-metastatic lymph nodes. The optimal cutoff values for MK [area under the curve (AUC), sensitivity, specificity] in discriminating metastatic from non-metastatic lymph nodes were 1.150 (0.634, 80.77%, 45.86%). Subgroup analysis revealed that when S ≥ 5.5 mm, MK was lower in metastatic lymph nodes than in non-metastatic nodes (P=0.037), with optimal cutoff values (AUC, sensitivity, specificity) of 1.213 (0.604, 87.50%, 36.51%). No significant differences were observed in S, ADC, or MD between the groups (P>0.05). When S<5.5 mm, metastatic lymph nodes showed higher ADC and MD but lower MK than non-metastatic nodes (P<0.05). The optimal cutoff values (AUC, sensitivity, specificity) for MK in this subgroup were 1.108 (0.655, 81.25%, 55.93%). No significant difference in S was observed (P=0.097).ConclusionThe DKI quantitative parameter MK can effectively discriminate regional MLNs from NMLNs in rectal cancer. Combining S with MK may further enhance diagnostic accuracy.  
    Keywords:rectal cancer;lymph nodes;diffusional kurtosis imaging;magnetic resonance imaging;diffusion weighted imaging  
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  • Efficacy of Ureteral Dilation Versus Ureteral Reimplantation for Primary Obstructed Megaureter in Children

    JIANG Jiabin, ZHANG Yin, ZHANG Ye, FANG Xiang, LI Daolong, TANG Peng, LONG Tengyun, CHAO Min
    Vol. 46, Issue 4, Pages: 686-692(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0415
    Abstract:ObjectiveTo evaluate the efficacy of ureteral dilation versus ureteral reimplantation in treating pediatric primary obstructive megaureter (POM).MethodsA retrospective analysis was conducted on clinical data of 53 pediatric patients with POM treated in the Department of Urology, Anhui Provincial Children's Hospital from April 2019 to September 2023. The cohort included 37 boys and 16 girls with 5 bilateral and 48 unilateral cases. The age ranged from 1 to 157 months, with a median age of 17.00 (5.50-48.00) months. Patients were assigned to 3 groups based on the management of the ureteral stricture segment: dilation group (18 cases, 19 sides), Cohen group (20 cases, 24 sides), and Lich-Gregoir group (15 cases, 15 sides). The duration of the operations, postoperative hospital stays, postoperative indwelling catheters, postoperative D-J stents; changes in renal pelvis anteroposterior diameter and ureteral diameter; and postoperative complications were compared to evaluate the therapeutic effects.ResultsAll 53 patients successfully underwent surgery. The dilation group showed significantly shorter operative time, postoperative hospital stay, and postoperative catheterization duration compared to the Cohen and Lich-Gregoir groups (P<0.05). However, the postoperative D-J stent time was longer in the dilation group than in the other 2 groups (P<0.05). Upon follow-ups for 6-12 months after stent removal, all groups demonstrated statistically significant reductions in renal pelvis anteroposterior diameter and ureteral diameter compared to preoperative values (P<0.05). No significant differences were observed among the 3 groups in hydronephrosis resolution rates (P>0.05). Additionally, the incidence of postoperative complications (urinary tract infection, vesicoureteral reflux, and reoperation for restenosis) did not differ significantly among the groups (P>0.05).ConclusionsUreteral dilation demonstrated non-inferior short-term clinical efficacy compared to ureteral reimplantation in managing POM in pediatric patients. With reduced operative time, minimal invasiveness, and technical simplicity, ureteral dilation may be considered a preferential treatment option for children with POM.  
    Keywords:ureteral stricture;surgical treatment;ureteral dilation;ureteral reimplantation;children  
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  • Impact of SARS-CoV-2 Infection on Sperm Quality

    WU Longmei, ZHOU Yuqi, LI guanjian, ZHU Lu, DUAN Zongliu, TANG Dongdong, SONG Bing, ZHU Ying
    Vol. 46, Issue 4, Pages: 693-699(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0416
    Abstract:ObjectiveTo investigate the presence of SARS-CoV-2 RNA in semen after COVID-19 infection in vaccinated individuals and to evaluate the impact of different recovery stages on sperm quality.MethodsFrom January to March 2023, vaccinated male patients with recent SARS-CoV-2 infections confirmed by throat swabs were recruited from the Reproductive Medicine Center at the First Affiliated Hospital of Anhui Medical University. Semen samples were analyzed with RT-qPCR to detect SARS-CoV-2 RNA. A retrospective analysis assessed sperm quality across recovery stages, comparing patients within 30 days of recovery to those with 30 days or more. Semen parameters evaluated included volume, total sperm count, forward motility percentage, abnormal morphology rate, and sperm DNA fragmentation index. In addition, a longitudinal self-comparison was performed to examine changes in semen quality before and after recovery (<30 days and ≥30 days).ResultsSARS-CoV-2 RNA was undetectable in the semen of all 205 patients. Neither cross-sectional comparisons nor longitudinal analyses showed significant differences in semen volume, sperm concentration, total sperm count, sperm morphology rate, sperm DNA fragmentation index , or high DNA stainability between recovery stages or compared to pre-infection values (P>0.05). However, forward motility percentage markedly decreased during recovery, with statistical significant between groups (P<0.05).ConclusionsIn vaccinated individuals who contracted COVID-19, SARS-CoV-2 was not transmitted through semen. Although the incidence of asthenozoospermia may increase within 30 days post-infection, this effect appears reversible in the short time.  
    Keywords:COVID-19;sperm quality;male reproductive tract;SARS-CoV-2 RNA;infertility  
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  • Construction and Validation of a Risk Prediction Model for Brucellosis Based on Deep Neural Networks

    LIU Siyuan, SONG Biao, LIU Guizhi, WANG Jun, XUE Lan, SU Jie, WANG Hongli, SHEN Xin
    Vol. 46, Issue 4, Pages: 700-707(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0417
    Abstract:ObjectiveTo construct a prediction model for brucellosis by using a deep neural network algorithm to improve the early detection.MethodsWe collected the clinical data of 202 brucellosis patients and 319 non-brucellosis patients admitted to Hohhot Occupational Disease Prevention and Treatment Hospital in 2023, and analyzed data such as gender, age, blood routine indices and clinical diagnosis. A prediction model for brucellosis was constructed by using a deep neural network algorithm and optimized through 10-fold cross-validation. Performance metrics included sensitivity, false negative rate, specificity, false positive rate, accuracy, positive predictive value, negative predictive value, F1 score, and area under the receiver operating characteristic curve (AUC). The optimal model was interpreted by using SHapley Additive exPlanations (SHAP) to clarify decision-making logic and feature influencing mechanisms.ResultsData visualization analysis revealed no significant difference between brucellosis and non-brucellosis groups.The optimal model demonstrated good performance: sensitivity (85.3%), specificity (92.1%), accuracy (89.5%), AUC (96.6%), 95% CI(0.937,0.977). SHAP analysis identified age, platelet count, mean platelet volume, basophil ratio, red blood cell distribution width, and absolute basophil count as significant predictors of brucellosis.ConclusionsThe deep neural network prediction model constructed in this study has good performance and can provide reliable support for the early diagnosis, prevention and control of brucellosis. Identification of key brucellosis-related influencing features will help further understand the pathogenesis of the disease, and this model holds promise for broad clinical application in the future.  
    Keywords:Brucellosis;deep neural network;blood routine indices;Shapley Additive exPlanations (SHAP);risk prediction model  
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  • Epidemiology and Clinical Characteristics of Kala-azar in Kashgar Region from 2013 to 2023

    LI Jiaoling, Zulipiya MOMING, Maimaitiaili TUERXUN, GAO Jie, LIU Chengyuan, CHONG Yutian, ZHU Jianyun
    Vol. 46, Issue 4, Pages: 708-713(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0418
    Abstract:ObjectiveTo explore the epidemiology and clinical characteristics of kala-azar patients in Kashgar region, so as to improve the diagnosis and treatment.MethodsA retrospective analysis was conducted on the clinical data of 71 kala-azar patients admitted to the First People’s Hospital of Kashgar Region between January 2013 and December 2023.ResultsAmong the 71 patients, the majority were aged 0-5 years (52.11%, 37/71), with a male-to-female ratio of 0.92:1. Most cases occurred in winter and spring. Common clinical manifestations included fever, fatigue, decreased appetite, splenomegaly and hepatomegaly. Laboratory investigations mainly found pancytopenia, reversed albumin-to-globulin ratio, elevated transaminases, and increased C-reactive protein and procalcitonin. The positive rates of anti-rK39 antibody detection and bone marrow microscopy were 100% (23/23) and 91.38% (53/58), respectively. Metagenomics next-generation sequencing (mNGS) of liver tissue identified Leishmania donovani in one case.The common complications were infectious toxic hepatitis 49.30% (35/71), myocarditis 29.56% (21/71), and bronchopneumonia 23.94% (17/71).ConclusionsPotential kala-azar should be taken into consideration for patients from the endemic areas with long-term irregular fever accompanied by splenomegaly, hemocytopenia, and reversed albumin-to-globulin ratio. Bone marrow smear microscopy and anti-rK39 antibody detection are recommended for the diagnosis, and mNGS provides a novel diagnostic solution.  
    Keywords:kala-azar;visceral leishmaniasis;zoonotic parasitic disease;leishmania donovani;clinical characteristics;epidemiology  
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    Research Express

  • Rauch-Steindl Syndrome Caused by NSD2 Mutation: A Case Report and Follow-up of Growth Hormone Therapy

    ZENG Qun, HUANG Siqi, OU Hui, LI Xiaojuan, LIANG Liyang
    Vol. 46, Issue 4, Pages: 714-720(2025) DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0419
    Abstract:ObjectiveTo analyze the clinical characteristics, efficacy of growth hormone (GH) therapy, and follow-up of a child with Rauch-Steindl syndrome (RAUST) caused by NSD2 gene mutation, aiming to enhance pediatricians’ understanding of this disorder.MethodsWe summarized the clinical features, gene test results, outcomes of GH therapy, and follow-up data of a child with RAUST syndrome caused by NSD2 mutation admitted to the Pediatric Endocrinology Department of Sun Yat-sen Memorial Hospital in April 2017, and then conducted a comparative analysis with relevant literature.ResultsThe 2.9-year-old boy at initial visit was born prematurely at 36 weeks of gestation, with a birth weight of 1.7 kg and a body length of 42.0 cm. Clinical manifestations included intrauterine growth retardation, delayed language and motor development, extreme short stature (82.0 cm, -3.7 SD), emaciation, and distinctive facial features (triangular face, narrow jaw, prominent forehead, arched eyebrows, sparse eyebrows, high anterior hairline, crowded dentition), accompanied by bilateral cryptorchidism. Bone age was delayed by 1.4 years. Karyotyping and chromosomal microarray analysis were normal. GH therapy initiated at 3.8 years old yielded annual growth rates of 4.9–6.6 cm/year. When the treatment was discontinued at the age of 8.0, the boy's height was 113.7 cm (-3.0 SD), with subsequent decline in growth velocity. Whole exome sequencing in July 2024 identified a frameshift variant c.4028del (p.Pro1343Glnfs*49) in NSD2, which was confirmed as de novo pathogenic variation by parental Sanger sequencing.ConclusionsThis study reports the clinical features of RAUST syndrome caused by NSD2 mutation and explores the long-term efficacy of GH therapy. The findings contribute to a better understanding of this rare syndrome and further optimize its diagnosis and management.  
    Keywords:Rauch-Steindl syndrome;short stature;NSD2 gene;growth hormone therapy;delayed development  
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