Online FirstList of IssuesDocument Types

Volume47,Issue2,2026
Issue CoverIssue Contents

    Review

  • Application Progress of Machine Learning Assisted Clinical Decision-making in Dermatology

    ZHANG Shucheng, SI Xiaoqing
    Vol. 47, Issue 2, Pages: 195-202(2026) DOI: 10.11714/jsysu.med.YX20260019
    Abstract:Machine learning (ML) is increasingly being integrated into clinical decision-making in dermatology, penetrating multiple critical stages including lesion identification, multimodal differential diagnosis, personalized treatment recommendation, efficacy prediction, and prognosis evaluation. By synthesizing multi-source data such as medical imaging, genomics, and clinical characteristics, ML models not only assist clinicians in improving diagnostic accuracy but also optimize therapeutic selection, enabling dynamic disease management and individualized intervention, thereby demonstrating substantial clinical application potential. For instance, convolutional neural network-based image analysis systems have exhibited performance comparable to or exceeding that of dermatology experts in the recognition of cutaneous neoplasms. Regarding treatment optimization, ML can recommend personalized medication regimens, predict treatment responses and adverse event risks by analyzing multidimensional patient data, thereby providing robust support for precision medicine. In the realm of prognosis assessment and long-term management, ML models incorporating patient-reported outcomes and time-series data facilitate dynamic monitoring of disease progression and individualized prediction of recurrence risk. However, despite rapid technological advances, the practical translation of ML into dermatological clinical decision-making still confronts multiple bottlenecks, including data bias, insufficient algorithmic generalization, lack of robust clinical validation, difficulties in system integration, and incomplete ethical supervision. This review systematically outlines the current applications and research progress of ML across various stages of dermatological clinical decision-making, thoroughly analyzes the key bottlenecks encountered, and comprehensively synthesizes advances in ML-assisted clinical decision support spanning image recognition, treatment optimization, prognosis evaluation, and ethical challenges, aiming to provide valuable insights for related research and clinical practice.  
    Keywords:machine learning;dermatology;clinical decision-making;artificial intelligence-assisted diagnosis;multimodal data  
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  • QU Yanfei, LI Yanjie
    Vol. 47, Issue 2, Pages: 203-215(2026) DOI: 10.11714/jsysu.med.YX20250175
    Abstract:Parkinson’s disease (PD) is a neurodegenerative disorder characterized by the loss of dopaminergic neurons in the substantia nigra pars compacta (SNpc) of the midbrain. Current therapeutic strategies are unable to reverse the neurodegenerative process, highlighting an urgent need for neuroprotective interventions. The phosphatidylinositol 3-kinase/protein kinase B (PI3K/Akt) signaling pathway, as a key pathway regulating cell survival, has emerged as an important target for PD intervention. In recent years, traditional Chinese medicine (TCM), with its distinctive properties of multi-targeted action and holistic regulation, has demonstrated considerable potential in PD neuroprotection research based on the PI3K/Akt pathway. However, most studies in this field are currently limited to the preclinical stage, and there is a lack of high-quality clinical evidence that correlates patients’ clinical endpoints [e.g., Unified Parkinson’s Disease Rating Scale (UPDRS) scores] with pathway-related biomarkers [e.g., phosphorylated Akt (p-Akt) levels], which hinders its clinical translation. Therefore, this paper reviews the research progress of TCM in the prevention and treatment of PD by regulating the PI3K/Akt pathway, and prospects the future direction of integrated research on “clinical phenotype-pathway activity-TCM intervention”, aiming to provide references for relevant basic research and clinical translation.  
    Keywords:Parkinson's disease;traditional chinese medicine;PI3K/Akt;signaling pathway;mechanisms  
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  • Regulation of Pyroptosis via the NLRP3-GSDMD Pathway and Its Immunotherapeutic Strategy in Ischemic Stroke

    WAN Chenlei, REN Binbin
    Vol. 47, Issue 2, Pages: 216-226(2026) DOI: 10.11714/jsysu.med.YX20250151
    Abstract:Ischemic stroke (IS) is a neurological disorder with high rates of disability and mortality worldwide, characterized by complex interactions between immune-inflammatory responses and various forms of cell death during its onset and progression. In recent years, pyroptosis, a form of programmed cell death mediated by inflammasomes, has attracted increasing attention for its critical role in post-stroke neuronal injury. Among the underlying mechanisms, the NOD-like receptor family pyrin domain-containing 3 inflammasome-Gasdermin D (NLRP3-GSDMD) pathway, as the central signaling axis of pyroptosis, plays a crucial regulatory role in immune responses and neuronal dysfunction following cerebral ischemia. However, current therapeutic strategies targeting this pathway remain limited by insufficient specificity and an incomplete understanding of its mechanisms of action. Therefore, this review summarizes the immuno-inflammatory pathology of IS, the mechanisms of the NLRP3-GSDMD pathway and pyroptosis, as well as emerging immunotherapeutic strategies targeting this signaling axis, aiming to provide insights and references for future research on pyroptosis-based immunomodulatory therapies for stroke.  
    Keywords:NLRP3-GSDMD pathway;pyroptosis;ischemic stroke;immune inflammation;treatment  
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    Preclinic Research

  • Expression of Diacylglycerol Acyltransferase 2 in Neuroblastoma and its Correlation with MYCN Expression

    WU Yixi, PAN Rui, YANG Yang, FENG Liang, WU Weirui, FANG Zhenzhen, QI Weiwei, YANG Xia
    Vol. 47, Issue 2, Pages: 227-237(2026) DOI: 10.11714/jsysu.med.YX20260020
    Abstract:ObjectiveTo explore the key genes influencing diacylglycerol metabolism in neuroblastoma (NB), clarify the expression and clinical significance of diacylglycerol acyltransferase 2 (DGAT2) in NB, and provide a theoretical basis for the diagnosis and targeted therapy of NB.MethodsNB transcriptome data were obtained from GEO (GSE49710) and TCGA (TARGET-NBL) databases. Differentially expressed genes (DEGs) commonly upregulated in MYCN-amplified groups were screened, and the key gene DGAT2 was identified by intersecting the screened DEGs with the diacylglycerol metabolism-related gene set followed by prognostic analysis and comparison. The expression of DGAT2 was analyzed via the R2 database. The potential impact of DGAT2 on the immune microenvironment was explored by combining the single-cell dataset GSE137804. Immunohistochemistry (IHC) was used to detect the expression level of DGAT2 and its correlation with MYCN expression in 55 clinical NB tissues and mouse xenograft tumor tissues.ResultsA total of 907 DEGs commonly upregulated in the MYCN-amplified groups were screened, among which three DEGs were highly expressed in the diacylglycerol metabolism-related gene set (P<0.05). After comparison, DGAT2 was found to have the most significant impact on prognosis (HR=1.4, 95% CI:1.2,1.7; P=5.41×10-7). Survival analysis showed that patients with high DGAT2 expression had a significantly shorter overall survival. Single-cell analysis revealed that high expression of DGAT2 led to an immunosuppressive microenvironment in NB. IHC results showed that the expression of DGAT2 in NB tissues was significantly positively correlated with MYCN expression in the tumor tissue microarrays of clinical NB patients and the tissues of mouse ectopic xenograft tumors (rs=0.369 4,P<0.01).ConclusionsDGAT2 is highly expressed in MYCN-amplified NB, and may independently predict poor prognosis in NB patients. It is expected to become a diagnostic marker for NB and a potential therapeutic target for MYCN-amplified NB.  
    Keywords:diacylglycerol acyltransferase 2;neuroblastoma;diacylglycerol;MYCN;prognosis  
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  • ZHOU Chuanmeng, GUAN Peiying, WU Rushi, ZHU Jiening, FANG Juntao, LIU Yupeng, FANG Xianhong, SHAN Zhixin
    Vol. 47, Issue 2, Pages: 238-250(2026) DOI: 10.11714/jsysu.med.YX20250186
    Abstract:ObjectiveTo investigate the expression of family with sequence similarity 162 member A (Fam162a), a mitochondrial inner membrane protein, in the fibrosis of cardiac fibroblasts and its regulatory role in modulating the fibrotic phenotype of cardiac fibroblasts.MethodsFam162a protein expression was detected in myocardial samples from patients with heart failure (HF) and mice with transverse aortic constriction (TAC)-induced myocardial remodeling. Primary neonatal mouse cardiac fibroblasts (mCFs) were isolated and cultured, and a cell model of angiotensin Ⅱ (Ang Ⅱ)-induced myocardial fibrosis was established to determine Fam162a protein expression. Recombinant adenovirus was used to mediate Fam162a overexpression, while small interfering RNA (si-RNA) was employed for Fam162a knockdown. Western blot was performed to detect the expression of fibrosis-related proteins, including COL1A1, COL3A1, and α-SMA. EdU staining assay was used to evaluate cell proliferation capacity, and scratch assay combined with Transwell assay was conducted to assess cell migration ability. Immunofluorescence assay was applied to measure mitochondrial membrane potential for reflecting mitochondrial dysfunction; reactive oxygen species (ROS) detection was performed to evaluate cellular oxidative stress status; MitoSox assay was used to reflect the degree of mitochondrial oxidative damage; and ATP detection was conducted to assess the overall cellular energy metabolism.ResultsFam162a expression was significantly downregulated in the myocardium of HF patients and TAC mice, and Ang Ⅱ-treated mCFs, accompanied by increased expression of COL1A1, COL3A1, and α-SMA (all P<0.05). Adenovirus-mediated overexpression of Fam162a significantly inhibited Ang Ⅱ-induced upregulation of fibrosis-related genes, as well as cell proliferation and migration. Accordingly, silencing Fam162a aggravated the fibrotic phenotypes of mCFs treated with Ang II. Further studies revealed that the inhibitory effect of Fam162a overexpression on Ang Ⅱ-induced fibrotic phenotype was suppressed following the addition of rotenone (a mitochondrial oxidative respiratory chain inhibitor), which was accompanied by mitochondrial membrane potential depolarization, excessive ROS production, and insufficient ATP generation.ConclusionFam162a exerts its inhibitory effect on the fibrotic phenotype of cardiac fibroblasts by maintaining mitochondrial membrane potential, promoting ATP production, reducing reactive oxygen species (ROS) generation, and suppressing Smad3 signaling activation.  
    Keywords:Fam162a;myocardial fibrosis;cardiac fibroblast;mitochondrial function;oxidative phosphorylation  
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  • Chronic Morphine Induces Downregulation of GIRK1 and GIRK2 Membrane Expression in HEK293 Cells

    LIU Bingke, CUI Yu, HAN Xue, XIAO Li
    Vol. 47, Issue 2, Pages: 251-258(2026) DOI: 10.11714/jsysu.med.YX20250191
    Abstract:ObjectiveTo investigate the expression and distribution changes of G protein-gated inwardly rectifying potassium (GIRK) channel subunits GIRK1 and GIRK2 following morphine tolerance using human embryonic kidney 293 (HEK293) cells.MethodsHEK293 cells were transfected with the lentiviral vector pLV-CMV-GIRK1-T2A-GIRK2-P2A-MOR to establish a stable cell line overexpressing GIRK1, GIRK2, and the μ-opioid receptor (MOR).Morphine (1 μmol/L, 24 h) was applied to these stable cells to construct a morphine-tolerant HEK293 cell model.Cellular immunofluorescence was used to examine the distribution and co-localization of MOR with GIRK1 and GIRK2.ELISA was performed to measure cAMP levels to confirm the establishment of the morphine-tolerant model.Cellular immunofluorescence and Western blot were employed to analyze the distribution and protein expression changes of GIRK1 and GIRK2 after morphine tolerance.A multimode microplate reader was used to measure fluorescence intensity for detecting changes in cellular membrane potential following morphine tolerance.ResultsIn the stable HEK293 cells, immunohistochemistry showed that GIRK1 and GIRK2 were primarily expressed on the plasma membrane, with minimal presence in the cytoplasm.Both GIRK1 and GIRK2 co-localized with MOR and with each other.Compared with the control group, cAMP levels significantly decreased after 1 h of morphine treatment (1.42±0.07 vs.0.72±0.12, P=0.001 0), while they significantly increased after 24 h of treatment (0.72±0.12 vs.1.98±0.17, P=0.000 5).Fluorescence double staining revealed that after 24 h of morphine treatment, the morphine-tolerant group showed a significant increase in cytoplasmic GIRK1 (13.76±7.67 vs.63.72±16.02, P<0.000 1) and GIRK2 (7.16±2.61 vs.32.92±7.67, P=0.002 9).Western blot analysis indicated that the expression of membrane proteins GIRK1 (1.11±0.14 vs.0.85±0.01, P=0.004 5) and GIRK2 (1.32±0.02 vs.0.86±0.08, P=0.000 1) was significantly downregulated after morphine tolerance.Membrane potential measurements showed that the hyperpolarization response in morphine-tolerant cells was significantly attenuated (-15.53±0.12) % vs.(-8.17±0.11) %, P<0.000 1.ConclusionChronic morphine treatment can induce downregulation of GIRK1 and GIRK2 expression on the plasma membrane in stable HEK293 cells.  
    Keywords:morphine;tolerance;HEK293 cells;GIRK1;GIRK2  
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  • LUO Mingxing, PEI Chenchen, GONG Liyun, ZHENG Xinlei, QIAN Jun, LIU Quan, ZHENG Jun
    Vol. 47, Issue 2, Pages: 259-268(2026) DOI: 10.11714/jsysu.med.YX20250165
    Abstract:ObjectiveTo screen and identify the key proteins of Monkeypox Virus (MPXV) that regulate the NOD-like receptor family pyrin domain containing 3 (NLRP3) inflammasome.MethodsUsing the genomic sequence of the domestic epidemic strain of MPXV as a template to construct an expression plasmid library containing 82 viral genes. To screen for viral genes that significantly inhibit the production of interleukin-1β (IL-1β), the expression plasmids encoding NLRP3, apoptosis-associated speck-like protein containing a CARD (ASC), cysteine protease-1(Caspase-1), and pro-IL-1β-Luc reporter gene were co-transfected into HEK293T cells, along with the viral gene plasmids. The signal of the NLRP3 inflammasome was monitored by measuring luciferase activity in the cell supernatant. The inhibition effects were further confirmed by Western Blot (WB), and the interactions between the viral proteins and the components of the NLRP3 inflammasome were determined by Co-immunoprecipitation (Co-IP). Additionally, site-directed mutagenesis was performed to identify the specific interaction motifs.ResultsAn NLRP3 inflammasome signal screening system were successfully established and optimized. Screening the MPXV plasmids using this system revealed that B10R most significantly inhibits IL-1β maturation in a dose-dependent manner (P<0.000 1). Further characterization demonstrated that B10R interacts directly with pro-IL-1β. Notably, the C-terminal motif mutant of B10R (B10Rmut-C, T96A, Y97A, I98A) lost its ability to interact with pro-IL-1β.ConclusionsThe MPXV B10R protein interacts with pro-IL-1β, thereby inhibiting the IL-1β maturation. The C-terminal motif (T96, Y97, I98) of the B10R protein is crucial for function. This study provides important clues and a foundation for further elucidating the molecular mechanisms by which MPXV regulates the NLRP3 inflammasome.  
    Keywords:NOD-like receptor family pyrin domain containing 3;inflammasome;monkeypox virus;interleukin-1β;B10R  
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  • XIE Zhi, LÜ Zhiyi, LU Danxia, ZHANG Shuilian, GUO Weibang, PAN Xue, ZHANG Xuchao, YANG Xuening
    Vol. 47, Issue 2, Pages: 269-282(2026) DOI: 10.11714/jsysu.med.YX20250181
    Abstract:ObjectiveTo investigate the heterogeneity of PD-L1 expression profiles between primary tumors and paired metastatic lymph nodes in advanced non-small cell lung cancer (NSCLC), and to determine the predictive value of key immune marker expression for the efficacy of first-line targeted therapy and chemotherapy.MethodsA retrospective analysis was conducted on 128 patients with histologically confirmed NSCLC and corresponding metastatic lymph nodes, who received first-line tyrosine kinase inhibitors (TKIs) or platinum-based doublet chemotherapy at Guangdong Provincial People's Hospital between April 2017 and February 2020. Immunohistochemistry (IHC) was employed to evaluate PD-L1 expression in primary tumors and metastatic lymph nodes. The Wilcoxon signed-rank test was performed to compare PD-L1 expression characteristics between primary tumors and metastatic lymph nodes. Kaplan-Meier survival curves were constructed, and the Log-rank test was used to compare differences between groups.ResultsAmong 28 paired cases, PD-L1 expression levels were numerically higher in metastatic lymph nodes than in primary NSCLC tumors (median:32.5 vs. 10.0), although the difference did not reach statistical significance (MD = 5.000, P = 0.083). Survival analysis revealed that in patients with driver gene-positive NSCLC, high PD-L1 expression (TPS ≥ 50%) in lymph nodes was significantly associated with shorter progression-free survival (PFS) following first-line TKI therapy [median PFS:4.0(TPS≥50%) vs. 8.9(1%≤TPS<50%) vs. 18.0 (TPS<1%) months, χ2=15.284, P<0.001]. Conversely, in patients with driver gene-negative NSCLC, high PD-L1 expression in lymph nodes was associated with longer PFS [median PFS:7.9 (TPS≥50%) vs. 3.0 (1%≤TPS<50%)months, χ2=8.436, P=0.004] and overall survival (OS) [median OS:28.8 (TPS≥50%) vs. 14.2 ( 1%≤TPS<50%) months, χ2=4.010, P=0.045] after first-line chemotherapy.ConclusionPD-L1 expression in metastatic lymph nodes is largely consistent with that in primary tumors of patients with advanced NSCLC. High PD-L1 expression in lymph nodes is associated with improved survival outcomes in driver gene-negative patients undergoing chemotherapy, whereas it portends a poor prognosis with TKI treatment in driver gene-positive patients. These findings support the application of PD-L1 expression levels in metastatic lymph nodes to guide personalized precision medicine strategies for advanced NSCLC.  
    Keywords:lung neoplasms;PD-L1;lymph node metastasis;chemotherapy;tyrosine kinase inhibitors  
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  • ZHANG Li, WANG Yuanyuan, ZHANG Tingying, HUANG Yingjuan
    Vol. 47, Issue 2, Pages: 283-292(2026) DOI: 10.11714/jsysu.med.YX20250111
    Abstract:Objectiveto evaluate the effects and underlying mechanisms of a glucose restriction (GR) regimen on acrolein-induced neurotoxicity and AD-related pathology.MethodsImmortalized mouse hippocampal HT22 cells were pretreated with culture media containing different glucose concentrations (25 mmol/L, 17.5 mmol/L, and 12.5 mmol/L), followed by incubation with 25 μmol/L acrolein for specified durations. Cell viability and apoptosis were assessed using MTT assay and flow cytometry, respectively. Changes in glutathione (GSH), superoxide dismutase (SOD), and malondialdehyde (MDA) levels were measured using enzyme linked immunosorbent assay(ELISA) kits. Alterations in the expression of BDNF/TrkB signaling proteins and key enzymes involved in amyloid precursor protein (APP) metabolism were evaluated by Western blot.ResultsPretreatment with GR significantly attenuated acrolein-induced loss of cell viability in HT22 cells. GR also alleviated the depletion of GSH and SOD, reduced MDA levels, and thereby ameliorated acrolein-induced oxidative damage(P<0.05). Furthermore, GR inhibited acrolein-triggered early apoptosis. Notably, the GR regimen protectively modulated the expression of BDNF/TrkB signaling pathway components and key APP-metabolizing enzymes (ADAM10 and BACE1)(P<0.05).ConclusionGR exerts neuroprotective effects against acrolein-induced toxicity, suggesting its potential in preventing or delaying the development of AD.  
    Keywords:glucose restriction;Acrolein;Alzheimer’s disease;Aβ deposition;oxidative damage  
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  • PENG Yuanyuan, ZENG Yan, HUANG Zhaolan
    Vol. 47, Issue 2, Pages: 293-305(2026) DOI: 10.11714/jsysu.med.YX20260003
    Abstract:ObjectiveTo explore the association between marital/living status and cognitive domains (memory, language, visuospatial, executive, and attention domains) in older adults, and to examine the influencing factors underlying urban-rural differences.MethodsBased on baseline data from the dynamic enrollment cohort (2016—2025) of the Hubei Memory and Aging Cohort Study, 10 825 older adults aged 60 years and above who met the study criteria were included, comprising 3 788 rural residents and 7 037 urban residents. The cohort collected information on marital and living status via questionnaires. Cognitive domains were assessed using standardized neuropsychological tests, with scores converted to z-scores [(raw score - mean score of the domain in the study population)/standard deviation of the domain in the study population]. Multiple linear regression models were used to analyze the associations between marital/living status and cognitive domains, as well as global cognition.ResultsRural older adults scored significantly lower than their urban counterparts in terms of socioeconomic status, healthy lifestyle indicators, and multiple cognitive domains (all P<0.001). Living away from family was significantly associated with lower scores across cognitive domains [memory: b =-0.217, 95%CI (-0.276, -0.159); attention: b =-0.213, 95%CI (-0.262, -0.163), all P<0.001], with this association being stronger and involving a broader range of cognitive domains in the urban sample. Moreover, compared to married and living with family, married but living away from family was associated with poorer cognitive performance, an effect that was more pronounced in the urban sample [memory: b =-0.521, 95%CI (-0.621, -0.422); attention: b =-0.443, 95%CI (-0.533, -0.354), all P<0.001].ConclusionUnmarried status and living away from family were each significantly associated with poorer performance in cognitive domains among older adults. The combined status of being married but living away from family was also associated with poorer cognitive performance, with these associations being more pronounced among urban-dwelling older adults.  
    Keywords:community-dwelling older adults;marital status;living status;cognitive domains;urban-rural differences  
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  • YANG Feicheng, HU Jie, HU Qing, LI Yanchun, LIU Xiao, TAN Xiaming
    Vol. 47, Issue 2, Pages: 306-314(2026) DOI: 10.11714/jsysu.med.YX20260002
    Abstract:ObjectiveTo analyze the characteristics of chromosomal variations and disease spectrum in patients with lymphohematopoietic system diseases in Hunan region.MethodsA cross-sectional study was conducted, collecting clinical data of 548 patients with lymphohematopoietic system diseases who underwent bone marrow chromosome karyotype analysis at Hunan Provincial People's Hospital from January 2021 to July 2025. G-banding technique was used to detect bone marrow chromosome karyotypes, and chromosome number and structural abnormalities were determined in accordance with the International System for Human Cytogenomic Nomenclature (ISCN) 2024. Retrospective statistical analysis was performed to correlate karyotype abnormality data with disease phenotypes such as myelodysplastic syndrome and acute/chronic leukemia. Classification of the types, frequencies, and reproducibility of variations was calculated to clarify the correlation between karyotypes and disease phenotypes.ResultsAmong the 548 patients who completed bone marrow chromosome karyotype analysis, 127 had chromosomal abnormalities (84 males and 43 females, mean age 58.26 years). Among patients with autosomal abnormalities, 64 cases were detected with translocations (a total of 67 mutations), with t(9;22)(q34;q11.2) (22 cases) and t(15;17)(q24;q21) (10 cases) as high-frequency translocations. Chromosomes 9, 15, etc. were high-frequency variant chromosomes, and 29 cases had complex mutations such as deletions/duplications, with +8 being the common type. There were 27 cases of sex chromosome abnormalities: 7 cases of X chromosome abnormalities (2 cases of chimerism) and 20 cases of Y chromosome deletions (7 cases of 45,X,-Y/46,XY chimerism). Karyotype-disease correlation showed that t(9;22) was detected 9 times in acute leukemia and 8 times in chronic myeloid leukemia; +8, -Y, etc. were associated with multiple types of hematological diseases, and the same karyotype could correspond to multiple disease phenotypes.ConclusionThe high-frequency chromosomal abnormalities, karyotype-disease correlations, and high-frequency NGS genes in patients with lymphohematopoietic system diseases, providing a basis for their precise diagnosis and treatment.  
    Keywords:lymphoid hematopoietic system;genetics;chromosomal variation;karyotype analysis;tumor  
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  • LUO Yu, ZHOU Wen, HU Feifei, XU Lang, ZENG Yan, REN Hongwei
    Vol. 47, Issue 2, Pages: 315-327(2026) DOI: 10.11714/jsysu.med.YX20260001
    Abstract:ObjectiveTo explore the association between metabolic score for visceral fat(METS-VF) and cardiometabolic multimorbidity(CMM) as well as cognitive function in the elderly population, revealing the role of METS-VF as an assessment tool in this population, and providing evidence and new perspectives for the early screening and intervention strategies of CMM and cognitive function.MethodsThis study is based on cross-sectional data from the Hubei memory and aging cohort study(HMACS), which includes elderly individuals aged 60 and above. The METS-VF index was calculated and divided into quartiles(Q1-Q4). CMM was assessed through a questionnaire, defining CMM as the coexistence of at least two of the following conditions: diabetes, heart disease, and stroke. Standardized cognitive tests were used to evaluate overall cognition, memory, language, executive function, and attention. Logistic and Linear regression analysis was performed to explore the association between METS-VF and the risk of CMM as well as cognitive function. A restricted cubic spline was used to test the dose-response relationship, and subgroup analysis was conducted to assess the variation of METS-VF in different populations. Additionally, multinomial unordered logistic regression was used to evaluate the performance of METS-VF in predicting CMM morbidity patterns.ResultsA total of 3 790 elderly participants aged 60 and above were included. After adjusting for confounding factors, compared with the lowest quartile(Q1), the Q4 group of METS-VF was associated with a higher risk of CMM [OR=3.00,95%CI (2.18, 4.16)], and with lower scores in overall cognition [b=-0.12, 95%CI (-0.21,-0.04)], attention [b=-0.14, 95%CI (-0.24,-0.05)], and executive function [b=-0.10, 95%CI (-0.20,-0.00)]. Dose-response analysis did not show a nonlinear relationship between METS-VF and either CMM or cognitive function (P for nonlinear > 0.05). Subgroup analysis revealed that the male group with higher METS-VF had lower overall cognitive scores, while the female group showed lower executive function scores (P for interaction < 0.05 for both). Multinomial unordered logistic regression analysis indicated that the METS-VF index was associated with an increased risk of diabetes with coronary heart disease [OR=2.62,95%CI (1.66, 4.15)] or concomitant stroke [OR=2.66,95%CI (1.73, 4.09)], especially in the group with both diabetes and stroke and coronary heart disease, where the association between METS-VF and the risk was strongest.ConclusionsAn increased METS-VF is associated with a higher risk of CMM and lower scores in overall cognition, attention, and executive function in the elderly population. Diabetes may be a key driving factor in the multimorbidity model. The METS-VF index can serve as a dual-purpose tool for screening cardiovascular metabolic risks and assessing cognitive function.  
    Keywords:metabolic score for visceral fat;cardiometabolic multimorbidity;cognitive domains;elderly population;obesity  
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    Clinical Research

  • FENG Jiali, CHEN Peisong, YU Muxue
    Vol. 47, Issue 2, Pages: 328-335(2026) DOI: 10.11714/jsysu.med.YX20250194
    Abstract:ObjectiveTo investigate early nutrition and growth of preterm monochorionic diamniotic(MCDA) twins combined with selective intrauterine growth restriction(sIUGR) and explore the potential role of DNA methylation in regulating extrauterine growth.MethodsTwenty-four pairs of preterm MCDA twins combined with sIUGR hospitalized in the Department of Neonatology of The First Affiliated Hospital of Sun Yat-sen University from March 2019 to February 2022 were enrolled, divided into larger twins group(n=24) and smaller twins group (n=24) according to birth weight. The comparison of daily nutritional intakes, the incidence of neonatal complications and physical growth from birth to 24 months of corrected age between two groups was performed using t-test, analysis of ANOVA, Chi-square test or Fisher's exact test. Differential DNA methylation analysis was performed using the methylation microarrays and differentially methylated site was validated using pyrosequencing method.ResultsThere were no significant differences in the daily intake of carbohydrate, protein, fat and energy between two groups (all P>0.05). There were no significant differences in the incidence of asphyxia, neonatal respiratory distress syndrome, bronchopulmonary dysplasia, retinopathy of prematurity and necrotizing enterocolitis between two groups (all P>0.05). Z-scores for weight, length and head circumference were significantly lower in the smaller twins group compared with the larger twins group from birth to 24 months of corrected age(all P =0.000). Difference in Z-scores for weight and length at term, 6 months, 12 months of corrected age did not differ significantly from that at birth(all P>0.05) while difference in Z-scores for weight and length between the twins at 18 months and 24 months of corrected age were significantly lower than that at birth (P = 0.009, P = 0.032, P = 0.026, P = 0.004). Difference in Z-scores for head circumference at 6 months, 12 months, 18 months, 24 months of corrected age were significantly lower than at birth (P = 0.001, others P = 0.000) except at term(P>0.05). The differences in weight, length and head circumference between the twins at term, 6 months, 12 months, 18 months and 24 months of corrected age significantly reduced (P = 0.001, P = 0.007, P = 0.001, others P = 0.000). Eighteen differentially methylated sites were identified and the methylation level of NFATC1 gene in the smaller twins group was significantly higher than that in the larger twins group(P = 0.043).ConclusionMCDA twins combined with sIUGR shares similar early nutrition and neonatal complications, while smaller twins at 24 months of corrected age grow faster than larger twins, which might be related to a higher methylation level of NFATC1 gene in smaller twins.  
    Keywords:monochorionic diamniotic twins;selective intrauterine growth restriction;DNA methylation;early nutrition;growth  
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  • YUAN Kun, ZHU Xiaomin, ZHANG Huanyu, HUANG Yujun, LI Qingying, OU Yan, ZHU Yunxiao
    Vol. 47, Issue 2, Pages: 336-345(2026) DOI: 10.11714/jsysu.med.YX20260009
    Abstract:ObjectiveTo develop and evaluate an O-RADSbased multiparametric model integratingcontrast-enhanced US (CEUS) and the z-score standardized risk of ovarian malignancy algorithm (ROMA z-score) to improve the diagnostic accuracy for differentiating benign, borderline, and malignant ovarian epithelial tumors (OETs).MethodsThis retrospective study included 129 patients with pathologically confirmed OETs between May 2018 and December 2024. Clinical variables (age, menopausal status, BMI, HE4, CA125) and sonographic features (conventional US and CEUS) were collected. Tumors were classified as benign, borderline, or malignant according to pathological findings. A random forest algorithm was used to contruct the predictive model. Receiver operating characteristic (ROC) curves were generated tocompare the diagnostic performance of O-RADS, O-RADS+CEUS, O-RADS+ROMA z-score, and O-RADS+ CEUS+ROMA z-score.ResultsAmong the 129 patients, 63 had benign tumors, 25 had borderline tumors, and 41 had malignant tumors. Compared with O-RADS alone, the combined O-RADS+CEUS+ROMA z-score model demonstrated superior diagnostic performance, with an AUC of 0.87 (95% CI: 0.79-0.95) vs. 0.64 (95% CI: 0.51-0.76), P<0.001, for differentiating benign from borderline tumors, and 0.90 (95% CI: 0.83-0.97) vs. 0.64 (95% CI: 0.50-0.78), P<0.001, for differentiating borderline from malignant tumors. The random forest analysis identified HE4, CA125 and CEUS features as the most important predictors,contributing 11.02, 8.82, 18.1 points, respectively, to the total importance score of 51.94. In the test cohort, the model achieved an overall diagnostic accuracy of 72.97%, with an AUC of 0.89(95%CI:0.77-1.00), sensitivity of 67.06%, and specificity of 85.01%.ConclusionsO-RADS+CEUS+ROMA z-score multiparametric model demonstrated the highest diagnostic performance for in differentiating benign from borderline and borderline from malignant OETs. HE4, CA125 and CEUS features were identified as key predictive risk factors, supporting the role of this model in improving preoperative risk stratification of OETs.  
    Keywords:ovarian epithelial tumors;O-RADS;contrast-enhanced ultrasound;the risk of ovarian malignancy algorithm;carbonhydrate antigen 125;human epididymis 4  
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  • LI Zhen, JIANG Hong, WANG Wenqing, WANG Yuanqi, HUANG Libin, LIU Juncheng, XUE Hongman
    Vol. 47, Issue 2, Pages: 346-353(2026) DOI: 10.11714/jsysu.med.YX20250133
    Abstract:ObjectiveTo compare the Children's Hepatic tumors International Collaboration (CHIC) and the new Chinese Children's Cancer Group (CCCG) hepatoblastoma (HB) risk stratification systems in terms of their prognostic prediction efficacy and chemotherapy guidance value for Chinese children with HB, aiming to identify the risk stratification system more suitable for Chinese HB patients.MethodsThis retrospective study analyzed the clinical data of 403 pediatric patients with HB aged < 18 years who were initially diagnosed at The First Affiliated Hospital of Sun Yat-sen University between February 2010 and September 2023. The prognostic predictive efficacy and chemotherapy-guided value of the CHIC and CCCG risk stratification systems was compared. Statistical analysis was performed using SPSS 27.0.Results①Using the new CCCG risk stratification, the 5-year event-free survival (EFS) rates for children who received versus did not receive risk-stratified chemotherapy according to the CCCG-HB-2016 protocol were 82.5% and 67.7% (P=0.002), respectively, and the 5-year overall survival (OS) rates were 91.5% and 85.1% (P=0.038). Using CHIC risk stratification, the corresponding 5-year EFS rates for children who received versus did not receive risk-stratified chemotherapy according to the CCCG-HB-2016 protocol were 80.3% and 68.5% (P=0.030), and the 5-year OS rates were 90.9% and 85.8% (P=0.151). ②Among children treated with the CCCG-HB-2016 protocol stratified by the new CCCG system, the 5-year EFS rates for the very low-risk (6 cases), low-risk (20 cases), intermediate-risk (61 cases), and high-risk (69 cases) groups were 100%, 94.1%, 94.7%, and 66.2% (P<0.001), respectively, and the 5-year OS rates were 100%, 100%, 96.5%, and 82.0% (P=0.017). Among children treated with the CCCG-HB-2016 protocol stratified by the CHIC system, the 5-year EFS rates for the very low-risk (32 cases), low-risk (22 cases), intermediate-risk (37 cases), and high-risk (54 cases) groups were 93.8%, 95.2%, 76.1%, and 66.8% (P=0.003), respectively, and the 5-year OS rates were 93.1%, 100%, 89.5%, and 85.6% (P=0.190). ③For patients receiving CCCG-HB-2016 risk-stratified chemotherapy, the P-values for EFS comparisons between the CHIC and new CCCG systems within the very low-risk, low-risk, intermediate-risk, and high-risk groups were 0.537, 0.879, 0.023, and 0.934, respectively. Among patients who received stratified chemotherapy according to the CCCG-HB-2016 regimen, the intermediate-risk group in the new CCCG risk stratification system exhibited a significant advantage in 5-year event-free survival (EFS) compared with the intermediate-risk group in the CHIC risk stratification system (94.7% vs. 76.1%).ConclusionCompared to the CHIC risk stratification, the new CCCG stratification may offer better prognostic prediction and guidance value for chemotherapy in Chinese HB patients, with the intermediate-risk group showing superior outcomes.  
    Keywords:child;hepatoblastoma;risk stratification;chemotherapy;prognosis  
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  • RAO Ruiqiang, SHANG Song, WANG Minggui
    Vol. 47, Issue 2, Pages: 354-359(2026) DOI: 10.11714/jsysu.med.YX20250162
    Abstract:ObjectiveTo explore the predictive value of serum cystatin C (CysC) and trabecular bone score (TBS) for postoperative fracture recurrence in elderly patients with osteoporotic vertebral fractures.MethodsA total of 100 elderly patients with osteoporotic vertebral fractures who were treated surgically at Fuling Hospital Affiliated to Chongqing University from June 2022 to June 2023 were followed up for 2 years. They were divided into the poor group (31 cases) and the good group (69 cases) based on the postoperative fracture recurrence. Pearson analysis was used to analyze the correlation between serum CysC and TBS, Cox analysis was used to analyze the influencing factors of postoperative fracture recurrence in elderly patients with osteoporotic vertebral fractures, and ROC analysis was used to analyze the predictive value of serum CysC and TBS for postoperative fracture recurrence in patients.ResultsThe proportion of bone cement penetration and serum CysC in the poor group were significantly higher than those in the good group (χ2 = 4.977, P = 0.026; t = 4.749, P = 0.000), while the proportion of postoperative anti-osteoporosis treatment, bone mineral density T value, and TBS were significantly lower than those in the good group (χ2 = 4.229, P = 0.040; t = 2.065, P = 0.042; t = 5.163, P = 0.000). Serum CysC was negatively correlated with TBS (r = -0.318, P = 0.001). Elevated serum CysC was a risk factor for postoperative fracture recurrence in elderly patients with osteoporotic vertebral fractures (P < 0.05), while elevated TBS was a protective factor (P < 0.05). The AUC of serum CysC for predicting postoperative fracture recurrence in patients was 0.786 (95%CI = 0.679-0.894), with a sensitivity of 77.42% and a specificity of 71.01%. The AUC of TBS for predicting postoperative fracture recurrence in patients was 0.795 (95%CI = 0.698-0.892), with a sensitivity of 74.19% and a specificity of 79.71%. The AUC of the combination of serum CysC and TBS for predicting postoperative fracture recurrence in patients was 0.858 (95%CI = 0.773-0.943), with a sensitivity of 74.19% and a specificity of 82.61%. The combination of the two had a higher predictive value for postoperative fracture recurrence in patients.ConclusionsElderly patients with osteoporotic vertebral fractures who experience postoperative fracture recurrence have elevated serum CysC and decreased TBS. The combination of serum CysC and TBS has a certain predictive value for postoperative fracture recurrence in elderly patients with osteoporotic vertebral fractures.  
    Keywords:osteoporotic fracture;cystatin C;trabecular bone score;fracture recurrence;prediction  
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  • CUI Jinhui, CHEN Xinjuan, OUYANG Liping, LI Ling, FAN Jianhui, HUANG Zeping, LI Ping
    Vol. 47, Issue 2, Pages: 360-367(2026) DOI: 10.11714/jsysu.med.YX20250185
    Abstract:ObjectiveTo evaluate whether the use of intrapartum ultrasound (IPUS) to monitor the labor process, as alternative method of traditional vaginal examination (VE), could reduce the incidence of postpartum complications associated with vaginal delivery.MethodsA total of 360 primiparas who underwent cervical dilation balloon induction of labor (IOL) and achieved successful vaginal delivery after childbirth at the Third Affiliated Hospital of Sun Yat-sen University between January 2022 and December 2023, were included in the retrospective study with half assessed for labor progress using IPUS (n=180) and the other half using VE (n=180). The differences in the relevant indicators of the labor process and the complications of vaginal delivery were compared between the two groups of pregnant women.ResultsThere was no significant difference in the duration of membrane rupture, the first stage of labor and the second stage of labor between the two groups. However, the number of VE in the IPUS group was significantly lower [nulliparous: 4 (3-4) vs. 6 (5-8), P<0.001; multiparous: 2 (2-3) vs. 4 (3-5), P<0.001]. The IPUS group experienced a lower incidence of postpartum fever compared to the VE group [1.67%(3/180) vs. 7.22%(13/180), P=0.006], while other complications of vaginal delivery, such as fever during labor, postpartum hemorrhage (PPH), laceration, poor wound healing and uroschesis, were not significantly different (all P > 0.05). The logistic regression analysis confirmed that the use of IPUS served as a protective factor for postpartum fever with an OR of 0.06 [95% CI (0.01, 0.36); P=0.002], while the duration of membrane rupture was a risk factor [OR: 1.12; 95% CI (1.03, 1.22); P = 0.011].ConclusionsIPUS, as an alternative to traditional VE, does not affect the progress of labor. However, it can significantly reduce the frequency of VE and the incidence of postpartum fever, thereby facilitating the rapid recovery of postpartum women, which makes it clinically valuable for application.  
    Keywords:intrapartum ultrasound;vaginal examination;labor progress assessment;vaginal delivery;complications  
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  • Clinical Utility of Whole Exome Sequencing in the Diagnosis of Fetal Short Femur

    CHEN Manqi, HUANG Zewei, XU Qi, ZHANG Shuning, CHEN Xiaojun, YAN Haiyan, LI Xiang, FU Shuai
    Vol. 47, Issue 2, Pages: 368-378(2026) DOI: 10.11714/jsysu.med.YX20250170
    Abstract:ObjectiveTo enhance the genetic diagnostic yield for fetal short femur length (FL) and to evaluate the integration of whole exome sequencing (WES) with chromosomal abnormality detection in prenatal diagnosis.MethodsA total of 27 mid-to-late trimester fetuses diagnosed with short FL [FL < 5th percentile for gestational age or < -2 SD (Standard Deviation)] at the Prenatal Diagnosis And Medical Genetics Center,Shenshan Medical Center,Memorial Hospital of Sun Yat-Sen University between November 2023 and May 2025 were included. Amniotic fluid or umbilical cord blood samples were collected and subjected to chromosomal karyotyping (19cases), chromosomal microarray analysis (CMA) or low-coverage whole genome copy number variation(CNV-Seq) (27 cases), and trio-based whole exome sequencing (trio-WES) (27 cases). The pathogenicity of genetic variants were interpreted according to the American College of Medical Genetics and Genomics (ACMG) guidelines.ResultsTwenty-six genomic variants were detected in 17 of the 26 fetuses, including numerical chromosomal abnormalities (mosaic type), copy number variations (CNVs), single nucleotide variants (SNVs) and insertions-deletions (INDELs). Genomic variants detected in 11 cases could explain the short femur phenotype.The overall diagnostic rate was 11/27, with pathogenic/likely pathogenic variants explaining 9 cases and variants of uncertain significance (VUS) accounting for 1 cases. In addition Chromosomal karyotype analysis revealed chromosome mosaicism explaining 1 case. The diagnostic rate of CNV detection (CMA/CNV-seq) was 2/27, while WES achieved a diagnostic rate of 10/27, with an incremental yield of 8/27 in cases with negative or inconclusive CNV results. Pathogenic mutations involved genes such as FGFR3, SHOX, DUOX2, CLCN5, and HBA1/HBA2.ConclusionTrio-WES significantly improves the genetic diagnostic rate for fetal short femur length, particularly in cases where chromosomal analysis fails to identify a cause. Karyotyping remains valuable for detecting low-level mosaicism in large-scale chromosomal abnormalities, thereby complementing WES and CNV detection. A stepwise or parallel genetic testing strategy is recommended in prenatal diagnosis to optimize diagnostic efficiency and support clinical decision-making.  
    Keywords:whole exome sequencing;copy number variation;short femur;prenatal diagnosis;genetic pathology  
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  • Analysis of Clinical Characteristics of Klippel-Trenaunay Syndrome with Gastrointestinal Bleeding

    LI Musheng, LIU Ruitao, YUAN Linqing, WANG Hongli
    Vol. 47, Issue 2, Pages: 379-386(2026) DOI: 10.11714/jsysu.med.YX20250173
    Abstract:ObjectiveTo investigate the clinical characteristics of a child with Klippel-Trenaunay syndrome (KTS) complicated by lower gastrointestinal bleeding, for better understanding of this rare condition.MethodsA retrospective analysis was conducted on the clinical data of a pediatric KTS case with lower gastrointestinal bleeding admitted to the Department of Gastroenterology of the Affiliated Women and Children's Medical Center of Guangzhou Medical University in October 2024. Using "Klippel-Trenaunay Syndrome" "KTS" "Gastrointestinal Bleeding" as keywords, we searched for relevant literature in the Wanfang Chinese Database and PubMed database up to March 2025 in our analysis.ResultsThe 8‑year‑old boy was admitted with a 4‑year history of hematochezia that had worsened over the previous two weeks. He had been previously diagnosed with KTS in outpatient consultation for lower limb asymmetry. Gastrointestinal endoscopy revealed diffuse, tortuous, bluish‑purple vessels in the mucosa from the sigmoid colon to the distal rectum. Oral polyethylene glycol and thalidomide significantly improved his hematochezia during follow‑up.ConclusionKTS often involves multiple systems in children, requiring multidisciplinary collaboration. Comprehensive diagnostic procedures such as gastrointestinal endoscopy are essential for formulating individualized treatment plans. Thalidomide may play an active role in managing vascular malformations in the intestine, offering a promising therapeutic approach.  
    Keywords:Klippel-Trenaunay syndrome;intestinal vascular malformation;lower gastrointestinal bleeding;digestive endoscopy examination;thalidomide  
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