Table of Content

28 January 2025, Volume 45 Issue 1 Previous Issue    Next Issue
---
Basic research
Clinical research
Techniques and methods
Public health
Review
Case report


For Selected:

Download Citations EndNote Ris BibTeX

Toggle Thumbnails

Basic research

Select

Role of tumor necrosis factor-α in coronavirus disease 2019-associated kidney injury PANDIT Roshan, LU Junyao, HE Liheng, BAO Yujie, JI Ping, CHEN Yingying, XU Jie, WANG Ying 2025, 45 (1):  1-10.  doi: 10.3969/j.issn.1674-8115.2025.01.001 Abstract ( 788 )   HTML ( 45 )   PDF (3324KB) ( 1326 )   Objective ·To identify relevant biomarkers for patients with coronavirus disease 2019-associated kidney injury (COVID-19-associated KI) and explore the mechanisms underlying the involvement of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) proteins in infection-related KI by affecting the interactions between renal cells and macrophages. Methods ·A retrospective analysis was conducted on the clinical characteristics of COVID-19 patients with KI treated in Shanghai Ninth, People′s, hospital from December 2022 to February 2023. Serum levels of inflammatory factors and chemokines were measured by using enzyme- linked immunosorbent assay (ELISA). In vitro, human macrophage cell line THP-1 cells were stimulated with recombinant S1 subunit protein derived from SARS-CoV-2 spike protein. The cells and culture supernatants were collected to detect the levels of inflammatory factors and chemokines by using quantitative real-time PCR (qRT-PCR) and ELISA. Conditioned medium was prepared from the cell culture supernatants of S1-stimulated THP-1 cells and used to stimulate human renal epithelial cells (HK-2) in vitro to assess cytokine secretion. Antibody blocking experiments were performed to analyze the effects of the conditioned medium on the production of cytokines in HK-2 cells. Results ·Among 39 patients with COVID-19, 8 (20.50%) had creatinine levels above the reference interval, which indicated the occurrence of KI. The levels of peripheral tumor necrosis factor-α (TNF-α) in the COVID-19 patient with KI group [(18.33±8.20) pg/mL] were significantly higher than those in the non-KI group [(11.88±6.50) pg/mL] (P=0.015). In vitro assay has shown that S1-spike protein stimulation promoted the level of gene transcription and production of TNF-α, interleukin-1β (IL-1β) and chemokine C-X-C motif ligand 10 (CXCL10) in THP-1 macrophage cells (P<0.001). Furthermore, the conditioned medium from S1-stimulated THP-1 cells promoted the secretion of TNF-α, IL-1β and CXCL10 by HK-2 cells (P=0.005). When anti-TNF-α antibody (Infliximab) was used to block TNF-α in the culture supernatants from S1-stimulated THP-1 cells, the secretion level of TNF-α by HK-2 cells decreased dramatically (P<0.001). Conclusion ·TNF-α levels increase significantly in COVID-19 patients with KI, implying the significance of TNF-α in the occurrence of COVID-19-associated KI. In vitro experiments confirm that the S1 protein induces TNF-α secretion from THP-1 cells, leading to increased inflammatory responses in renal cells, which may contribute to the development of COVID-19-associated KI. Therefore, targeting TNF-α may become an alternative strategy to reduce the occurrence of COVID-19-associated KI. Figures and Tables | References | Related Articles | Metrics

Select

Potential role of SUMO-specific proteases 1 in ferroptosis XIE Bin, BAI Meng, WU Yan, WO Lulu, HUANG Ying, ZHANG Jing 2025, 45 (1):  11-19.  doi: 10.3969/j.issn.1674-8115.2025.01.002 Abstract ( 823 )   HTML ( 36 )   PDF (2842KB) ( 3113 )   Objective ·To explore the potential role of SUMO-specific protease 1 (SENP1) in ferroptosis. Methods ·The Cancer Genome Atlas (TCGA) database was used to analyze the correlation between the expression levels of SENP1 and the ferroptosis-related genes, acyl-CoA synthetase long chain family member 4 (ACSL4) and glutathione peroxidase 4 (GPX4). Ferroptosis in human fibrosarcoma HT1080 cells, murine fibrosarcoma MCA-205 cells, and human embryonic kidney 293T cells was induced by RAS-selective lethal 3 (RSL3). Quantitative real-time PCR (RT-qPCR) and Western blotting were used to detect the expression of SENP1. In 293T cells, immunoprecipitation-mass spectrometry was used to investigate the interacting proteins of SENP1 in the process of ferroptosis. The Flag-SENP1 plasmid was transiently transfected into 293T cells, and the overexpression efficiency of SENP1, along with the expression levels of ferroptosis-related genes ACSL4 and GPX4,was assessed by RT-qPCR and Western blotting. Results ·TCGA database analysis showed that the expression of SENP1 was positively correlated with ACSL4 and negatively correlated with GPX4 in most tumor tissues. RT-qPCR and Western blotting showed that the expression level of SENP1 was significantly down-regulated in RSL3-treated HT1080, MCA-205, and 293T cells. Immunoprecipitation-mass spectrometry showed that SENP1 enriched SUMO molecules in the process of ferroptosis. Western blotting showed that the level of ACSL4 protein increased after SENP1 overexpression, and there was no significant change in the level of GPX4 protein. RT-qPCR showed that after SENP1 overexpression, there was no significant change in the mRNA levels of ACSL4 and GPX4. Conclusion ·SENP1 gene expression is downregulated during ferroptosis, and may regulate the stability of ferroptosis-related protein ACSL4. Figures and Tables | References | Related Articles | Metrics

Select

Inhibitory effect of rutin on the growth and metastasis of osteosarcoma in vitro and in vivo LI Xiang, WEI Ming, WU Wenxi, LUO Xiaoqin, YAO Biao, WU Siyu 2025, 45 (1):  20-28.  doi: 10.3969/j.issn.1674-8115.2025.01.003 Abstract ( 622 )   HTML ( 37 )   PDF (7353KB) ( 1658 )   Objective ·To investigate the effects of rutin on proliferation, apoptosis, migration and invasion of osteosarcoma cells and its possible molecular mechanisms. Methods ·Human osteosarcoma MG63 and U2OS cells were treated with rutin at concentrations of 10, 20 and 40 μmol/L, respectively. The effects of rutin on proliferation, apoptosis, migration, and invasion of MG63 and U2OS cells were assessed by using CCK-8 assay, colony formation assay, flow cytometry, scratch closure assay, and Transwell assay. The expression levels of cell proliferation antigen Ki67, B-cell lymphoma-2 (Bcl-2), and Bcl-2 associated X protein (Bax) proteins were detected by Western blotting. Twelve BALB/c nude mice were subcutaneously injected with osteosarcoma MG63 cells to establish a subcutaneous transplant tumor model. The mice were randomly divided into two groups: a control group and a rutin 40 mg/kg group (6 mice in each group). The rutin 40 mg/kg group was intraperitoneally injected with rutin (40 mg/kg), and the control group was intraperitoneally injected with an equal volume of saline, once every other day for 4 weeks. The tumor volume was measured every week. After 4 weeks, the mice were euthanized, and the tumors were excised and weighed. Immunohistochemistry was used to detect the expression of Ki67 and vascular endothelial growth factor (VEGF) in tumor tissues. TUNEL was used to detect tumor cell apoptosis. Results ·Compared with MG63 and U2OS cells not treated with rutin, MG63 and U2OS cells treated with rutin at 20 and 40 μmol/L showed a significant decrease in proliferation rate, an increase in apoptotic rate, a decrease in migration and invasion abilities, a significant downregulation of Ki67 protein, and a significant increase in Bax/Bcl-2 ratio, with statistically significant differences (all P<0.05). In addition, rutin significantly inhibited the in vivo growth of osteosarcoma cells, reduced the expression of Ki67 and VEGF in tumor tissues, and promoted cell apoptosis (all P<0.05). Conclusion ·Rutin can inhibit the proliferation, migration, and invasion of osteosarcoma cells, and promote apoptosis. Figures and Tables | References | Related Articles | Metrics

Select

Transcriptional regulatory network analysis of microglia in multiple sclerosis CAI Qiangwei, SUN Feng, WU Wenyu, SHAO Fuming, GAO Zhengliang, JIN Shengkai 2025, 45 (1):  29-41.  doi: 10.3969/j.issn.1674-8115.2025.01.004 Abstract ( 695 )   HTML ( 28 )   PDF (8881KB) ( 9044 )   Objective ·To investigate the differential gene expression of microglia in the gray and white matter of multiple sclerosis (MS) using single-nucleus transcriptomic analysis, aiming to explore their roles in disease progression, and identify key transcriptional regulatory networks associated with the disease. Methods ·snRNA-seq data of frozen human brain tissue samples from MS patients and control individuals were obtained from the Gene Expression Omnibus (GEO) database. R language, along with R packages such as Seurat, was employed to identify cell types based on specific cell markers. Microglia were extracted from the identified cell populations and classified based on their anatomical origin, either gray matter or white matter. Dimensionality reduction and clustering techniques were utilized to identify distinct microglial subpopulations with differential characteristics. Differentially expressed genes (DEGs) between the MS and control groups at the subpopulation level were analyzed by using the Seurat package. Gene set enrichment analysis of Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) was conducted on the DEGs to further explore the biological significance of these differences. Monocle3 was used for pseudotime analysis to study dynamic changes in microglia subpopulations during disease progression. Single cell regulatory network inference and clustering (SCENIC) method was applied to analyze transcription factor (TF) regulatory networks, aiming to identify key transcription factors potentially involved in MS regulation. Results ·After quality control, a total of 149 062 nuclei were retained for analysis. Following dimensional reduction and clustering, 12 238 microglia were identified by using key markers, including DOCK8, CSF1R, P2RY12, and CD74. The results of GO and KEGG pathway analysis showed that in gray matter microglia, functions such as endocytosis, ion homeostasis, and lipid localization were downregulated during disease progression, while in white matter microglia, functions such as protein folding, cytoplasmic translation, and response to thermal stimuli were upregulated. SCENIC analysis revealed that the expression of transcription factors such as FLI1, MITF, and FOXP1 was upregulated in MS. Conclusion ·Microglia play a critical role in MS, with white matter microglia being more significantly impacted by MS than their gray matter counterparts. Transcription factors such as FLI1, MITF, and FOXP1 are identified as key regulators involved in disease modulation, with their associated transcriptional regulatory networks playing a central role in disease modulation. Figures and Tables | References | Related Articles | Metrics

Clinical research

Select

Relationship between abdominal fat area and first-phase insulin secretion function of pancreatic β-cells in patients with type 2 diabetes LU Jiaping, LIU Xing, ZHANG Linshan, ZHAO Lin, ZHANG Min, LI Xiaoying, LIU Yuejun 2025, 45 (1):  42-50.  doi: 10.3969/j.issn.1674-8115.2025.01.005 Abstract ( 699 )   HTML ( 27 )   PDF (2215KB) ( 2031 )   Objective ·To explore the relationship between abdominal fat area and the first-phase insulin secretion function of pancreatic β-cells in patients with type 2 diabetes, and to establish predictive models of nomogram. Methods ·From October 2020 to February 2024, a total of 120 patients with type 2 diabetes, who were hospitalized in the Department of Endocrinology, Zhongshan Hospital, Fudan University, and underwent the arginine stimulation test, were recruited for the study. Patients were categorized into an insulin secretion function-preserved group (i.e. preserved group) and a depleted group according to the results of the arginine stimulation test. General information and laboratory parameters were collected. Subcutaneous fat area (SFA) and visceral fat area (VFA) were non-invasively measured by abdominal fat detector. The variables were screened by univariate analysis, and multivariate Logistic regression was used to identify the influencing factors, followed by the establishment of predictive models of nomogram. The area under the receiver operating characteristic curve (ROC curve) and concordance index (C-index) were used to evaluate the predictive performance of the models. Results ·Seventy-four patients (61.7%) were assigned to the preserved group, and 46 patients (38.3%) to the depleted group. Patients in the depleted group had a longer diabetes duration, lower waist circumference, hip circumference, body mass index (BMI), uric acid, free triiodothyronine (FT3), adipose tissue insulin resistance (Adipo-IR), ankle brachial index (ABI), SFA and VFA, and higher brachial ankle pulse wave velocity (baPWV). Multivariate Logistic regression showed that SFA, VFA, FT3, baPWV, and ABI were independent risk factors for the depleted insulin secretion function. Nomogram models were constructed based on the above risk factors. Among them, the model comprising VFA, FT3, ABI, and baPWV showed the best predictive performance with a C-index of 0.81. Conclusion ·SFA and VFA are lower in patients with depleted first-phase insulin secretion function of pancreatic β-cells. The nomogram model, including SFA or VFA, can be used to predict first-phase insulin secretion function of pancreatic β-cells in patients with type 2 diabetes. Figures and Tables | References | Related Articles | Metrics

Select

Relationship between psychopathological symptoms and drug addiction, and mediating role of psychological distress in drug addicts GAO Yuyan, LI Wei, WANG Shuting, KISHIMOTO Tomoko, ZHANG Ruyuan 2025, 45 (1):  51-59.  doi: 10.3969/j.issn.1674-8115.2025.01.006 Abstract ( 782 )   HTML ( 37 )   PDF (1934KB) ( 2102 )   Objective ·To identify different comorbidity types resulting from the spontaneous association of psychopathological symptoms among male drug addicts, explore the relationship between latent types and drug addiction, and examine the mediating role of psychological distress. Methods ·Four hundred and fifty male drug addicts, recruited by Yunnan First Compulsory Isolation Drug Rehabilitation Center according to the 2017 revised Drug Addiction Identification Method by the Ministry of Public Security, were enrolled as participants. The Symptom Checklist-90 (SCL-90), Craving Automated Scale for Substances (CAS-S), and Psychache Scale (PAS) were used to assess the severity of psychopathological symptoms, drug addiction, and psychological distress, respectively. Latent class analysis was employed to identify different types of psychopathological comorbidity that may exist in the participants, and the types were named based on the analysis results. Variance analysis was used to test differences in the severity of drug addiction and psychological distress among different latent types, and a mediation model was established to explore the mediating role of psychological distress between different latent types and drug addiction. Results ·Latent class analysis identified three types of psychopathology: high, medium, and low levels, with decreasing positive rates and numbers of comorbidity in each type based on the ten psychopathological symptoms included in the SCL-90. There were significant differences in the severity of psychological distress and drug addiction among the three types of participants. Psychopathological symptoms positively predicted the severity of psychological distress and drug addiction. Psychological distress completely mediated the relationship between medium levels of psychopathology and drug addiction, while partially mediating the relationship between high levels of psychopathology and drug addiction. Conclusion ·There are three types of psychopathological comorbidity among male drug addicts: high, medium, and low. Psychological distress plays a complete mediating role between medium levels of psychopathology and drug addiction, and a partial mediating role between high levels of psychopathology and drug addiction. Figures and Tables | References | Related Articles | Metrics

Select

[18F]F-FMISO and [18F]F-FLT PET/CT dual-nuclide imaging for in vivo prediction of drug resistance in pancreatic cancer SUN Chenwei, HAI Wangxi, QU Qian, XI Yun 2025, 45 (1):  60-68.  doi: 10.3969/j.issn.1674-8115.2025.01.007 Abstract ( 615 )   HTML ( 21 )   PDF (2304KB) ( 903 )   Objective ·[18F]F-FMISO and [18F]F-FLT are specific PET imaging agents for detecting the hypoxia microenvironment and cell proliferation, respectively. This study aims to visualize and monitor the impact of drug resistance in pancreatic cancer on the hypoxia microenvironment and cell proliferation through [18F]F-FMISO and [18F]F-FLT PET/CT dual-nuclide imaging, with the goal of providing a theoretical basis for clinical application. Methods ·The CCK-8 assay was conducted to assess drug resistance in the PANC-1/R (PR) pancreatic cancer cell line compared to the parental PANC-1 (P) cell line. Subcutaneous xenograft models of pancreatic cancer were established by injecting male BALB/c nude mice with pancreatic cancer cells into the left axillary subcutaneous region. Subgroups were treated with gemcitabine (GEM) chemotherapy starting on day 18 (18D-G group) or day 12 (12D-G group) after inoculation of tumor cells. [18F] F-FMISO and [18F] F-FLT PET/CT imaging were performed before and after treatment to obtain semi-quantitative parameters (maximum standardized uptake value, SUVmax). ΔSUVmax was calculated by using the following equation: ΔSUVmax=(SUVmax of second imaging-SUVmax of first imaging)/ SUVmax of first imaging. Receiver operating characteristic (ROC) curves were used to determine the optimal threshold for the semi-quantitative parameters to assess pancreatic cancer drug resistance. Results ·The CCK-8 assay confirmed that the PR cells exhibited high resistance to GEM, with a resistance index of 4.24 (n=5). In vivo experiments showed that GEM chemotherapy significantly inhibited tumor growth and prolonged survival in the parental pancreatic cancer group (12D-G group, P=0.025), whereas GEM chemotherapy accelerated tumor growth and shortened survival (18D-G and 12D-G, P=0.025) in the drug-resistant pancreatic cancer group. In addition, in the non-chemotherapy group, ΔSUVmax-FLT might be negatively correlated with survival time, while in the chemotherapy group, both ΔSUVmax-FMISO and ΔSUVmax-FLT were negatively correlated with survival time (P=0.050, P=0.006). In the 18D-G and chemotherapy group, the second imaging showed significantly lower ΔSUVmax-FMISO and ΔSUVmax-FLT in P tumors compared to PR tumors (P=0.045, P=0.050). In the 12D-G and chemotherapy group, the second imaging showed slightly lower ΔSUVmax-FLT in P tumors compared to PR tumors (P=0.051). ROC analysis identified the optimal threshold for assessing pancreatic cancer drug resistance: when ΔSUVmax-FLT=0.45 in the non-chemotherapy group, the sensitivity and specificity were 100.00% and 50.00%, respectively; when ΔSUVmax-FMISO=0.37 and ΔSUVmax-FLT=0.36 in the chemotherapy group, the sensitivity and specificity were 100.00% and 83.33%, respectively. Conclusion ·[18F]F-FMISO and [18F]F-FLT PET/CT dual-nuclide imaging can be used to assess drug resistance in pancreatic cancer. The comparison of [18F]F-FMISO and [18F]F-FLT PET differences before and after chemotherapy provides the most accurate prediction of drug resistance and survival time. Figures and Tables | References | Related Articles | Metrics

Select

Study on multi-parametric texture analysis for quantifying brain magnetic susceptibility in patients with Parkinson′s disease ZHAO Xinxin, PEI Mengchao 2025, 45 (1):  69-78.  doi: 10.3969/j.issn.1674-8115.2025.01.008 Abstract ( 592 )   HTML ( 22 )   PDF (3237KB) ( 771 )   Objective ·To quantify brain iron content in Parkinson′s disease (PD) patients by using quantitative susceptibility mapping (QSM) based on phase linearity fitting. Combined with texture analysis methods, the magnetic susceptibility distribution characteristics of gray matter nuclei in PD patients were quantitatively analyzed with multiple parameters and dimensions, and the sensitivity of texture features was evaluated with clinical scoring. Methods ·Quantitative susceptibility images from 20 PD patients and 20 healthy controls (HC) were analyzed retrospectively. Regions of interest in basal ganglia were manually segmented, followed by three-dimensional texture analysis by using gray-level run-length matrix (GLRLM). One-way analysis of variance (ANOVA) was performed to compare differences between the two groups, and the bilateral Pearson linear correlation coefficient ( r) was calculated to evaluate the correlation between texture parameters and UPDRS-III clinical scores. Results ·The analysis of texture feature parameters showed that there were significant differences between the PD and HC groups in the gray matter nuclei. Among all the texture feature parameters of GLRLM, LngREnch showed significant differences between the PD group and the HC group in the five gray matter nuclei measured. The average magnetic susceptibility of gray matter nuclei and GLRLM texture parameters were sensitive in distinguishing PD from HC (AUC>0.5). The AUC values of RLNonUni, LngREnch, ShrtREmp, and Fraction were higher than that of the average magnetization susceptibiliyt. The correlation analysis showed that RLNonUni and GLevNonU in the caudate nucleus (CN), as well as GLevNonU in the red nucleus (RN), were significantly correlated with UPDRS-III scores, while no significant clinical correlations were found for the remaining parameters. Conclusion ·Compared to the mean magnetic susceptibility values, GLRLM texture parameters provide better differentiation between the PD and HC groups. Multiparameter texture analysis offers a novel approach to QSM-based quantitative assessment of brain iron content, which can provide additional multidimensional quantitative information for the non-invasive diagnosis of PD. Figures and Tables | References | Related Articles | Metrics

Techniques and methods

Select

Optimization and evaluation of mouse model construction method for severe periodontitis WANG Jiaxuan, ZHANG Qianqian, SUI Baiyan, LIU Xin 2025, 45 (1):  79-86.  doi: 10.3969/j.issn.1674-8115.2025.01.009 Abstract ( 1008 )   HTML ( 28 )   PDF (4215KB) ( 1635 )   Objective ·To investigate an optimal severe periodontitis mouse model by comparing two induction methods: simple ligature and ligature combined with injection of Porphyromonasgingivalis lipopolysaccharide (P.g. LPS). Methods ·Fifteen C57BL/6 mice were divided into three groups: a healthy control group, a simple ligature-induced periodontitis group, and a ligature combined with P.g. LPS injection-induced periodontitis group. After 14 d, the following evaluations were conducted: tooth mobility and probing depth under a stereomicroscope; alveolar bone resorption [bone volume fraction, bone mineral density, the distance from the cemento-enamel junction (CEJ) to the alveolar bone crest (ABC), and the area between CEJ and ABC] analyzed via micro computed tomography (Micro-CT) and stereomicroscopic examination. The serum levels of inflammatory cytokines interleukin-1β (IL-1β) and tumor necrosis factor-α (TNF-α) were assessed by enzyme-linked immunosorbent assay (ELISA). Results ·Compared with the simple ligature group, mice in the ligature with P.g. LPS injection group exhibited significantly increased tooth mobility [(2.20±0.45) vs (1.40±0.55)] and probing depth [(1.05±0.21) mm vs (0.58±0.39) mm], with statistically significant differences (P<0.05). The ligature with P.g. LPS injection group also demonstrated significantly reduced bone volume fraction [(16.44%±3.35%) vs (28.97%±7.90%)] and bone mineral density [(0.42±0.04) g/cm3vs (0.55±0.08) g/cm3], as well as increased distance from CEJ to ABC [(0.88±0.03) mm vs (0.74±0.12) mm] and area between CEJ and ABC [(0.34±0.01) mm2vs (0.30±0.02) mm2], all with statistically significant differences (all P<0.05). Additionally, serum levels of TNF-α and IL-1β were significantly elevated in the ligature with P.g. LPS injection group compared to the simple ligature group (both P<0.05). Conclusion ·The method of ligature combined with continuous P.g. LPS injection is more effective for constructing a severe periodontitis mouse model, making it suitable for studying the progression and treatment of severe periodontitis. Figures and Tables | References | Related Articles | Metrics

Public health

Select

Two-sample Mendelian randomization study on the causal association between air pollution and Alzheimer′s disease ZHANG Yingying, ZHANG Junyao, SONG Jiwei, WANG Shengjie, YAO Junyan 2025, 45 (1):  87-94.  doi: 10.3969/j.issn.1674-8115.2025.01.010 Abstract ( 541 )   HTML ( 15 )   PDF (2532KB) ( 1687 )   Objective ·To explore the causal relationship between air pollution and the risk of Alzheimer′s disease (AD) by using two-sample Mendelian randomization (MR). Methods ·Based on the data from the genome-wide association study (GWAS), a two-sample MR analysis was conducted to evaluate the causal relationship between air pollution and the risk of AD. Air pollution indicators, including particulate matter 2.5 (PM2.5), particulate matter 2.5-10 (PM2.5-10), particulate matter 10 (PM10), nitrogen dioxide and nitrogen oxides, were used as exposure factors, and summarized data were aggregated from the UK Biobank database. The PM2.5 dataset included 423 796 cases, with correlation analysis conducted on 9 851 867 single nucleotide polymorphisms (SNPs); the PM2.5-10 dataset included 423 796 cases, with correlation analysis conducted on 9 851 867 SNPs; the PM10 dataset included 455 314 cases, with correlation analysis conducted on 9 851 867 SNPs; the nitrogen dioxide dataset included 456 380 cases, with correlation analysis conducted on 9 851 867 SNPs; the nitrogen oxides dataset included 456 380 cases, with correlation analysis conducted on 9 851 867 SNPs. AD was used as the outcome factor, and data were obtained from the International Genomics of Alzheimer′s Project (IGAP). The AD dataset included 25 580 cases and 48 466 controls, with correlation analysis of 7 067 513 SNPs. SNPs significantly associated with AD were used as instrumental variables. The main analysis was conducted by using the inverse variance weighted (IVW) method, and four methods including weighted median, MR-Egger regression, mode-based simple estimation and mode-based weighted estimation were used for quality control. Heterogeneity testing, gene pleiotropy testing and sensitivity analysis were conducted to assess the reliability of the study results. Results ·Heterogeneity testing indicated no evidence of heterogeneity among SNPs associated with air pollution indicators and AD (both IVW and MR-Egger results, P>0.05). Gene pleiotropy testing did not detect any pleiotropic effects (MR-Egger results, P>0.05). Sensitivity analysis confirmed the stability of the PM2.5 results. IVW analysis revealed a statistically significant association between PM2.5 and AD in European populations (P<0.001), while no statistically significant associations were observed between PM2.5-10 (P=0.664), PM10 (P=0.664), nitrogen dioxide (P=0.284), nitrogen oxides (P=0.567) and AD. Conclusion ·There is a significant causal relationship between PM2.5 exposure and the risk of AD, with PM2.5 exposure increasing the incidence of AD. However, no evidence has been found to suggest that PM2.5-10, PM10, nitrogen dioxide or nitrogen oxides cause an increased risk of AD. Figures and Tables | References | Related Articles | Metrics

Review

Select

Advances in the treatment of adrenoleukodystrophy LIU Xiaoli, CAO Li 2025, 45 (1):  95-100.  doi: 10.3969/j.issn.1674-8115.2025.01.011 Abstract ( 981 )   HTML ( 76 )   PDF (1348KB) ( 2207 )   Adrenoleukodystrophy (ALD) is an X-linked, potentially fatal peroxisome disease, characterized by three main clinical phenotypes: adrenomyeloneuropathy (AMN), cerebral adrenoleukodystrophy (CALD), and primary adrenal insufficiency. The clinical phenotypes of ALD are unpredictable, with no genotype-phenotype correlation, and disease progression cannot be predicted based on very long chain fatty acid (VLCFA) levels in plasma. Additionally, the phenotypes can exhibit significant variability. Currently, no definitive treatment for this disease exists, and treatment options vary depending on the specific phenotypes. For AMN, only symptomatic supportive treatment is available. However, early CALD can be stabilized through allogeneic hematopoietic stem cell transplantation (allo-HSCT) and transgenic autologous hematopoietic stem cell transplantation (trans-ASCT), and primary adrenal insufficiency can be treated through hormone replacement therapy. Allo-HSCT and trans-ASCT can prevent the progression of early CALD, but cannot reverse the changes of AMN or halt the progression of adrenal insufficiency. Furthermore, they cannot prevent neurological dysfunction or death in terminal CALD. In recent years, multiple clinical trials of drugs targeting ALD have demonstrated therapeutic potential for ALD. Trans-ASCT and gene editing therapy have also made breakthroughs in animal models and clinical trials, providing alternative options for ALD patients ineligible for allo-HSCT treatment. This paper reviews the latest therapeutic research results of ALD and provides a basis for clinical practice. References | Related Articles | Metrics

Select

Research progress in the clinical application of minimally invasive orthognathic surgery WANG Ruiyang, LIU Kai, WANG Xudong 2025, 45 (1):  101-106.  doi: 10.3969/j.issn.1674-8115.2025.01.012 Abstract ( 797 )   HTML ( 26 )   PDF (1292KB) ( 2006 )   Orthognathic surgery is a procedure that involves cutting the deformed segments of the upper and lower jawbones and moving the dentoalveolar complex to a predetermined corrective position, aiming to establish a harmonious dental arch and occlusal relationship and improve facial appearance. With the rapid advancement of medical technology and the accumulation of clinical experience, minimally invasive orthognathic surgery, which uses endoscopy, piezoelectric bone scalpels, lasers, navigation systems, and robotic-assisted surgical devices, is gaining increasing attention due to its advantages of minimal trauma and high precision. However, the clinical application of minimally invasive orthognathic surgery has not yet been systematically explored. Given its significant role in advancing the field of orthognathic surgery, this paper aims to provide a comprehensive review of the latest progress in the clinical application of minimally invasive orthognathic surgery and offer an outlook on future directions, with the goal of providing valuable insights for future research and clinical practice. References | Related Articles | Metrics

Select

Research progress on the neuroinflammation mechanisms in bipolar disorder WANG Xiaohong, FANG Yiru 2025, 45 (1):  107-112.  doi: 10.3969/j.issn.1674-8115.2025.01.013 Abstract ( 755 )   HTML ( 34 )   PDF (1288KB) ( 1468 )   Bipolar disorder (BD) is a chronic, recurrent mental illness characterized by extreme fluctuations in mood and state, clinically manifested as recurrent or alternating manic, depressive, and mixed episodes. The pathogenesis is complex and remains unknown, with neuroinflammation considered as a key factor in its development. In-depth research not only helps to understand the etiology, but also provides direction for the development of new therapeutic targets. This paper reviews recent studies on neuroinflammation in BD, discusses changes in peripheral and central inflammation and associated biomarkers, explores the underlying mechanisms of pathogenesis, and briefly describes the mechanisms and potential of mood stabilizers and new therapeutic drugs in anti-inflammatory effect, aiming to suggest possible future research directions. References | Related Articles | Metrics

Select

Research progress in the relationship between ultra-processed food intake and pregnancy outcomes MI Xiaoyang, DING Ying, CHEN Yijing, JIA Jie 2025, 45 (1):  113-121.  doi: 10.3969/j.issn.1674-8115.2025.01.014 Abstract ( 843 )   HTML ( 13 )   PDF (1401KB) ( 2226 )   In recent years, the global consumption of ultra-processed foods (UPFs) has increased. UPFs are classified as the fourth group of food in the NOVA classification system: industrially formulated foods made entirely or mostly from substances extracted from foods (oils, fats, sugar, starch, proteins, etc), derivatives of food constituents (hydrogenated fats, modified starches, etc), or multiple food additives. Common manufacturing techniques include extrusion, moulding, and pre-frying. As high-energy-density foods, UPFs are typically characterized by high levels of sugar, fat, and salt, and low levels of dietary fiber, protein, vitamins, and minerals, resulting in low nutrient density. Studies have shown that a high intake of UPFs increases the risk of various chronic diseases. Nutrition during pregnancy is a crucial factor influencing pregnancy outcomes, and balanced and adequate nutrient intake is essential for the health of both the mother and child. Given that UPFs have limited nutritional density, high intake during pregnancy may be detrimental to maternal and infant health. However, the impact of consuming UPFs during pregnancy on maternal and infant health is not extensively studied. This article reviews the literature on the effects of UPFs on pregnancy outcomes, aiming to provide a foundation for further research and personalized dietary guidance. Figures and Tables | References | Related Articles | Metrics

Case report

Select

A case report of relapsed and refractory multiple myeloma with multifocal extramedullary infiltration and pulmonary adenocarcinoma DU Fang, ZHOU Lingyun, CHEN Jiao, LIU Danbo, XIANG Hongxian, CHEN Haifei 2025, 45 (1):  122-128.  doi: 10.3969/j.issn.1674-8115.2025.01.015 Abstract ( 526 )   HTML ( 10 )   PDF (9676KB) ( 1457 )   Multiple myeloma (MM) remains an incurable disease, with most patients experiencing multiple relapses before ultimately progressing to refractory stage. Extramedullary infiltration is a common manifestation of relapse. However, distinguishing synchronous multifocal extramedullary infiltration from secondary malignancies poses significant diagnostic challenges. This study presents a case of relapsed refractory MM with multifocal extramedullary infiltration, diagnosed as coexistence of multiple myeloma extramedullary infiltration and pulmonary adenocarcinoma through multidisciplinary team (MDT) collaboration. Such coexistence is exceedingly rare in clinical practice and introduces substantial complexity in diagnosis and treatment planning. Through a comprehensive case report and literature review, this paper explores the diagnostic and therapeutic approaches to managing multifocal extramedullary infiltration coexisting with secondary malignancies in MM, highlighting the pivotal role of MDT in achieving precise diagnosis and optimizing patient outcomes. Figures and Tables | References | Related Articles | Metrics