Table of Content

05 April 2026, Volume 46 Issue 4

Previous Issue    Next Issue

Original Articles

Establishment and characterization of intestinal organoids from dopamine D5 receptor conditional knockout mice in duodenal mucosal epithelium

ZHU Yinzhe, MA Xuerui, WANG Guoqing, WANG Yijia, FENG Xiaoyan

2026, 46(4):  478-483.  doi:10.16352/j.issn.1001-6325.2026.04.0478

Asbtract ( 56 )   PDF (3509KB) ( 28 )  

References | Related Articles | Metrics

Objective To establish a mouse duodenal mucosal epithelial organoid model with conditional knockout of dopamine D5 receptor (D₅R) in intestinal mucosal epithelium. Methods Villin-Cre^ERT2+/+D₅R-flox^+/+ C57BL/6J mice were utilized to isolate duodenal crypts for organoid culture. D₅R conditional knockout (CKO) was induced via the Cre-loxP system by 4-hydroxytamoxifen administration. The structural characteristics of duodenal mucosal epithelial organoids and the knockout efficiency of D₅R were evaluated through morphological observation, immunofluorescence staining, quantitative PCR (qPCR), and Western blot assays. Results A duodenal mucosal epithelial organoid model with conditional D₅R knockout was successfully established. Morphological examination revealed that the organoids exhibited structural features similar to the in vivo duodenal mucosal epithelium. Immunofluorescence staining confirmed a significant reduction in D₅R expression following 4-hydroxytamoxifen induction,with fluorescence intensity decreasing from 0.904±0.061 to 0.385±0.020 (n=6, P＜0.001). qPCR analysis demonstrated a marked decrease in D₅R mRNA levels from 2.483±0.204 to 0.241±0.048, and Western blot showed a significant reduction in protein expression from 0.923±0.075 to 0.569±0.032 (n=6, P＜0.001). Conclusions A conditional D5R knockout organoid model derived from duodenal mucosal epithelium is successfully developed, which faithfully recapitulates the physiological characteristics of duodenal mucosa. This model provides a reliable in vitro platform for elucidating the regulatory mechanisms of D5R in duodenal epithelial functions.

Dynamic changes of urinary proteomics and metabolomics in chronic hypoxia mouse model

LIU Tingting, HE Mengzhen, ZHANG Yuxue, HU Siqi, LI Jun, SUN Wei

2026, 46(4):  484-490.  doi:10.16352/j.issn.1001-6325.2026.04.0484

Asbtract ( 56 )   PDF (5475KB) ( 22 )  

References | Related Articles | Metrics

Objective To detect changes in the metabolome and proteome of urine in a mouse model of chronic hypoxia and to explore the correlation between the urinary proteome and metabolome. Methods Six C57BL/6J male mice were placed in an oxygen chamber with 14% oxygen concentration for 5 weeks of hypoxic exposure. Mouse urine was collected weekly with a control group established simultaneously. Non-targeted proteomics and metabolomics techniques were employed for dynamic analysis of urine samples. Results Compared to the control group, the urine of chronic hypoxia mice contained 458 differentially expressed proteins and 718 differential metabolites. These proteins and differential metabolites were functionally enriched primarily in glycolysis pathway, lysosomal pathway, and cholesterol synthesis pathway. Joint analysis of proteomics and metabolomics revealed that proteins with high correlation to differential metabolites were mainly enriched in PI3K-AKT, complement and coagulation cascades, and cell cycle pathways. Conclusions Urinary proteomics and metabolomics may reflect the changes induced by chronic hypoxic stimulation.

Impact of local radiotherapy on tyrosine kinase inhibitor treatment in non-small cell lung cancer with oligo-residual disease

LIU Pengpeng, SUN Zhao, QIU Wei, TANG Hui, ZHU Wenjia, WANG Wenhui, WANG Yingyi

2026, 46(4):  491-497.  doi:10.16352/j.issn.1001-6325.2026.04.0491

Asbtract ( 49 )   PDF (1466KB) ( 14 )   PDF（mobile） (541KB) ( 1 )  

References | Related Articles | Metrics

Objective To evaluate the clinical significance of local radiotherapy(LT) in oligo-residual lesions of advanced non-small cell lung cancer(NSCLC) treated with tyrosine kinase inhibitors(TKIs). Methods A retrospective study was conducted in 61 patients with stage Ⅳ NSCLC who developed oligo-residual disease after TKI therapy at Peking Union Medical College Hospital from February 2018 to May 2024. The patients were stratified into two groups: the LT group(n=31, receiving local consolidative therapy or ablation while continuing systemic therapy) and the non-LT group(n=30, receiving systemic therapy alone). Progression-free survival(PFS), overall survival(OS), and treatment-related safety were compared between the groups. Results The LT group showed a prolonged PFS compared to the non-LT group(31 vs. 23 months, P= 0.171), although the difference did not reach statistical significance. Patients undergoing LT also had a longer median OS(54 vs. 42 months, P=0.713), although the difference did not achieve statistical significance. A total of 7 patients(22.6%) in the local radiotherapy group developed radiation pneumonitis of any grade, including 4 patients(12.9%) with grade 1 pneumonitis and 3 patients(9.7%) with grade 2 pneumonitis.Univariate and multivariate analyses indicated that the number of metastatic lesions, sex, ECOG performance status, targeted therapy regimen, and best response to targeted therapy were factors associated with patient prognosis. Among these variables, ECOG performance status and smoking status were identified as independent predictors of PFS. Conclusions In NSCLC patients with oligo-residual lesions after TKI therapy, LT preliminarily appears to prolong progression-free survival without significantly increasing treatment-related adverse events.

Construction of LILRA2-overexpressing lentiviral vector and establishment of THP-1-LILRA2 stable transfected cell strain

HUANG Gaoxiang, WEI Dongmei, YANG Yao, GUO Xianing, ZHOU Kai, LUAN Jing

2026, 46(4):  498-503.  doi:10.16352/j.issn.1001-6325.2026.04.0498

Asbtract ( 56 )   PDF (1637KB) ( 12 )  

References | Related Articles | Metrics

Objective To construct a recombinant lentiviral vector overexpressing leukocyte immunoglobulin-like receptor subfamily A member 2 (LILRA2), establish a stable LILRA2-overexpressing human myeloid leukemia mononuclear cell strain(THP-1), and preliminarily investigate the impact of LILRA2 on the expression of pro-inflammatory cytokines. Methods The pLV-SFFV-MCS-EF1-ZsGreen1-T2A-Puro backbone vector was double-digested with BamH Ⅰ/Xba Ⅰ to construct the LILRA2-overexpressing recombinant lentiviral vector. After lentiviral packaging, concentration, and titer determination, the optimal multiplicity of infection (MOI = 30) and puromycin screening concentration (2 μg/mL) for THP-1 cells were determined. Following lentiviral infection, puromycin selection was performed to obtain stable transfectants. LILRA2 expression was verified by RT-qPCR and Western blot. TNF-α and IL-1β expression was determined by RT-qPCR. Results Sequencing confirmed the successful construction of the LILRA2-overexpressing recombinant lentiviral vector. The fluorescence-positive rate in stably transfected THP-1 cells exceeded 90%. LILRA2 mRNA (P＜0.001) and protein (P＜0.05) expression levels in the THP-1-LILRA2 group were significantly higher than those in the THP-1-NC negative control group. TNF-α (P＜0.05) and IL-1β (P＜0.05) mRNA levels in the THP-1-LILRA2 group were significantly higher than those in the THP-1-NC negative control group. Conclusions The LILRA2-overexpressing lentiviral vector was successfully constructed and a stable LILRA2-overexpressing THP-1 cell strain was established. LILRA2 overexpression upregulates the expression of pro-inflammatory cytokines in monocytes.

Mitochondrial mRNA m⁶A methylation landscape and its alterations during neurodevelopment and in brain tumors

FU Yujie, PAN Wenqi, YANG Lin, TENG Xufei, SONG Shuhui, TONG Weimin, NIU Yamei

2026, 46(4):  504-511.  doi:10.16352/j.issn.1001-6325.2026.04.0504

Asbtract ( 46 )   PDF (6488KB) ( 15 )  

References | Related Articles | Metrics

Objective To systematically characterize N⁶-methyladenosine (m⁶A) modifications on mitochondrial messenger RNA (mt-mRNA), define its features, and investigate its changes during neurodevelopment and in brain tumors.Methods Thirteen sequencing datasets generated by seven m⁶A profiling techniques were integrated to compare m⁶A distribution and relative methylation levels across chromosomes and to delineate an m⁶A modification landscape of mt-mRNA. In addition, mouse cerebral cortices and cerebella at different developmental stages, together with three brain tumor cell lines, were collected, and representative transcripts were validated by methylated RNA immunoprecipitation followed by quantitative polymerase chain reaction (MeRIP-qPCR).Results m⁶A modifications on mt-mRNA were detected across multiple human, mouse and rat tissues and cell types, albeit at levels lower than those of nuclear-encoded transcripts. During mouse cortical and cerebellar development, mt-mRNA m⁶A levels showed stage-dependent changes. Compared with normal brain tissues, mt-mRNA m⁶A levels were decreased in glioblastoma and medulloblastoma. Conclusions This study confirms the presence of m⁶A modifications in the mitochondrial transcriptome and demonstrates their dynamic regulation during neurodevelopment and in the pathogenesis of brain tumors,providing a new perspective for understanding mitochondrial function and its involvement in diseases.

Correlation between serum HLA and HPA antibody strength and transfusion effect in patients with ineffective immune platelet transfusion

ZHU Wenjuan, CUI Fan

2026, 46(4):  512-516.  doi:10.16352/j.issn.1001-6325.2026.04.0512

Asbtract ( 36 )   PDF (849KB) ( 4 )  

References | Related Articles | Metrics

Objective To exploring the clinical significance of changes in human leukocyte antigen (HLA) and human platelet antigen (HPA) antibodies in the serum of patients with ineffective immune platelet transfusion, and to analyze the effects of antibody strength and transfusion frequency on platelet transfusion efficacy. Methods A retrospective study was conducted on 95 patients, who were grouped according to antibody type (HLA type, HPA type, HLA+HPA type) and intensity (HLA low/medium/high, HPA low/high). The transfusion efficacy rate (defined as a 24-hour corrected count increment [CCI]≤4.5 indicating refractoriness) and CCI level were compared, and the correlation between transfusion frequency and antibody intensity was analyzed. Results Among the 95 patients, 84.21% were positive for HLA antibody, 9.47% for HPA antibody and 6.32% for HLA+HPA antibody. In HLA patients, the effective rate of cross-matched platelet transfusion and the 24-hour CCI level were significantly higher than those of random platelet transfusion (P＜0.05). There was no significant difference in the effective rate and 24-hour CCI level between HPA type and HLA+HPA type patients (P＞0.05). With the increase of HLA antibody strength, the effective rate of cross-matched platelet transfusion and 24-hour CCI decreased gradually (P＜0.05). The effective rate and 24-hour CCI of cross-matching transfusion in patients with moderate and low-intensity HLA antibodies were significantly higher than those of random transfusion(P＜0.05), but there was no significant difference between the two transfusion methods in patients with high-intensity HLA antibodies (P＞0.05). The average number of times in random transfusion group was significantly higher than that in cross-matching group (P＜0.05), and the number of times of random transfusion was positively correlated with the strength of HLA antibody(P＜0.05). Conclusions HLA antibody strength is the key factor affecting the transfusion effect, and cross-matching can improve the curative effect of patients with different HLA antibody strength. Repeated random transfusion may promote the increase of HLA antibody, and the effect of HPA antibody requires validation in large cohorts.

FAM83H-AS1 promotes epithelial-mesenchymal transition and angiogenesis in the endometrial cancer cell line Ishikawa

YAN Luyu, WANG Chao, FENG Shuo

2026, 46(4):  517-523.  doi:10.16352/j.issn.1001-6325.2026.04.0517

Asbtract ( 38 )   PDF (2276KB) ( 12 )  

References | Related Articles | Metrics

Objective To investigate the effect and mechanism of FAM83H-AS1 on epithelial-mesenchymal transition (EMT) and angiogenesis in endometrial cancer cells. Methods Human endometrial cancer Ishikawa cells were divided into four groups: Blank group, FAM83H-AS1 siRNA group (transfected with FAM83H-AS1 siRNA), miR-4684-5p mimics group (transfected with miR-4684-5p mimics), and FAM83H-AS1 siRNA + miR-4684-5p mimics group (co-transfected with FAM83H-AS1 siRNA and miR-4684-5p mimics). Cell invasion was detected by Transwell assay; tube formation was detected by Matrigel assay; the EMT marker proteins E-cadherin and Vimentin were detected by Western blot; the targeted relationship between FAM83H-AS1 and miR-4684-5p was detected by dual-luciferase reporter assay; and the expression levels of FAM83H-AS1 and miR-4684-5p were detected by qPCR. Results Compared with the Blank group, the expression of FAM83H-AS1 was decreased and the expression of miR-4684-5p was increased in FAM83H-AS1 siRNA group and the miR-4684-5p mimics group(P＜0.05). Compared with the FAM83H-AS1 siRNA group or the miR-4684-5p mimics group, the expression of FAM83H-AS1 was decreased and the expression of miR-4684-5p was increased in the FAM83H-AS1 siRNA + miR-4684-5p mimics group (P＜0.05), among which there was no statistically significant difference between the FAM83H-AS1 siRNA group and the miR-4684-5p mimics group. Compared with the blank group, the number of cell invasions, tube formations, and the protein level of Vimentin were all decreased, while E-cadherin was increased in the FAM83H-AS1 siRNA group and the miR-4684-5p mimics group (P＜0.05). Compared with the FAM83H-AS1 siRNA group or the miR-4684-5p mimics group, the number of cell invasions, tube formations, and the protein level of vimentin were all decreased, while E-cadherin was increased in the FAM83H-AS1 siRNA+miR-4684-5p mimics group (P＜0.05), among which there was no statistically significant difference between the FAM83H-AS1 siRNA group and the miR-4684-5p mimics group. The dual-luciferase reporter assay showed that after transfection with miR-4684-5p mimics, the activity in the FAM83H-AS1 3′UTR-WT group was significantly reduced (P＜0.05), whereas the effect on the FAM83H-AS1-3′UTR-MUT group was not significant. Conclusions In the endometrial cancer cell line Ishikawa, knockdown of FAM83H-AS1 or overexpression of miR-4684-5p inhibits epithelial-mesenchymal transition and angiogenesis, an effect mediated by the targeted regulation of miR-4684-5p.

Impairment of sperm motility in mice with heterozygous deletion of fibroblast growth factor receptor 1

LI Chenyang, LI Ting, WANG Xi, NIE Min, WU Xueyan, MAO Jiangfeng, HAN Qin

2026, 46(4):  524-530.  doi:10.16352/j.issn.1001-6325.2026.04.0524

Asbtract ( 29 )   PDF (3155KB) ( 20 )  

References | Related Articles | Metrics

Objective To investigate the effect of heterozygous deletion of fibroblast growth factor receptor 1 (FGFR1) on reproductive function in congenital hypogonadotropic hypogonadism (CHH). Methods A heterozygous FGFR1 knockout mouse model (FGFR1^+/-) was established. Polymerase chain reaction (PCR) and Sanger sequencing were performed to confirm the deletion of the target exons. Immunohistochemistry and Western blot were used to detect FGFR1 protein expression. Reproductive capacity and function (including sperm concentration, motility, and progressive motility) were evaluated. Additionally, body mass index (BMI), testicular weight, testicular volume, and various sex hormone levels (including T, E2, AMH, FSH, LH, and INH-B) were measured and analyzed statistically. Results The FGFR1 heterozygous knockout mouse model was successfully constructed. PCR and sequencing results confirmed the deletion of exons 4 and 5 of the FGFR1 gene. Western blot and immunohistochemistry demonstrated reduced FGFR1 protein expression. Compared with wild-type (WT) mice, FGFR1^+/- mice exhibited significantly lower sperm motility(P＜0.001) and fewer progressively motile sperm (P＜0.01). Compared with WT mice, the INH-B level in FGFR1^+/- mice was slightly elevated (P＜0.05). Conclusions Heterozygous deletion of FGFR1 impairs sperm motility in mice, providing critical evidence for further elucidating the pathogenesis of reproductive dysfunction in congenital hypogonadotropic hypogonadism.

AnxA1 knockout impairs cognitive function of mice

ZHAO Yimin, GE Meili, WANG Yuxin, LIU Ruixuan, JIANG Mengxue, ZHU Jing, ZHANG Xuerui

2026, 46(4):  531-539.  doi:10.16352/j.issn.1001-6325.2026.04.0531

Asbtract ( 68 )   PDF (5677KB) ( 16 )  

References | Related Articles | Metrics

Objective To investigate the impact of annexin A1 (AnxA1) gene deficiency on cognitive function of mice and its underlying molecular mechanisms. Methods AnxA1-knockout (AnxA1-KO) mouse model constructed using CRISPR/Cas9 gene editing technology; Spatial cognition and memory functions were assessed using the Morris water maze, open field test, novel object recognition, and Y-maze test. The impact of AnxA1 knockdown on the proliferation and migration capability of mouse hippocampal neuronal cell line HT22 was evaluated using Western blot, real-time cell analysis (RTCA), and Transwell assays. The relationship between AnxA1 and the p38 MAPK signaling pathway was also examined. Results PCR genotyping confirmed successful generation of AnxA1-KO mice. Compared with wild-type (WT) mice, AnxA1-KO mice exhibited significantly decreased spatial exploration ability, spontaneous alternation rate, novel object discrimination index, and time spent in the safe zone(P＜0.05). After AnxA1 knockdown, the proliferation and migration ability of HT22 cells were significantly lower than those of the control group (P＜0.05). Furthermore, AnxA1 knockdown significantly activated the p38 MAPK signaling pathway, leading to increased levels of phosphorylated p38 (p-p38). Conclusions The deficiency of AnxA1 may lead to cognitive impairment of mice by activating the p38 signaling pathway, which subsequently inhibits neuronal proliferation and migration.

Cinnamic acid alleviates anoxia/reoxygenation-induced injury of rat myocardial cell line

HAN Liting, WANG Yan, CHEN Xing, MA Jia, LIU Yang

2026, 46(4):  540-546.  doi:10.16352/j.issn.1001-6325.2026.04.0540

Asbtract ( 37 )   PDF (4739KB) ( 7 )  

References | Related Articles | Metrics

Objective To explore the mechanism of cinnamic acid (CA) in improving anoxia/reoxygenation (A/R)-induced myocardial cell injury. Methods H9c2 cells were assigned into control group, A/R group, low-dose and high-dose groups of cinnamic acid, HIF-1α activator (DMOG) group, and high-dose cinnamic acid+HIF-1α inhibitor (IDF-11774) group. Cell viability was assessed using the CCK-8 assay. Levels of lactate dehydrogenase (LDH) and creatine kinase-MB (CK-MB) in the supernatant were measured by ELISA. Mitochondrial ultrastructure was observed via transmission electron microscopy. Intracellular reactive oxygen species (ROS) and ferrous iron (Fe²⁺) levels were detected using 2′,7′-dichlorodihydrofluorescein diacetate (DCFH-DA) and FerroOrange fluorescent probes, respectively. Malondialdehyde (MDA) levels and superoxide dismutase (SOD) activity were determined using commercial kits. Protein expression of HIF-1α, SLC7A11, and GPX4 was analyzed by Western blot. Results Compared with the control group, the A/R group exhibited mitochondrial atrophy, severe cristae disruption, and partial outer membrane rupture. Additionally, cell viability and SOD activity, along with HIF-1α, SLC7A11, and GPX4 protein levels, were significantly decreased, whereas LDH and CK-MB release, ROS production, MDA levels, and Fe²⁺ accumulation were significantly increased (P＜0.05). Compared with the A/R group, the low and high-dose cinnamic acid groups, and DMOG group showed reduced mitochondrial structural injury in H9c2 cells, raised cell viability, SOD activity, HIF-1α, SLC7A11, and GPX4 proteins, and decreased cell supernatant LDH, CK-MB levels, cell ROS fluorescence intensity, MDA and Fe²⁺ fluorescence intensity (P＜0.05). IDF-11774 attenuated the inhibitory effect of high-dose cinnamic acid on A/R induced ferroptosis in H9c2 cells and its improvement effect on cell injury. Conclusions Cinnamic acid alleviates A/R-induced cardiomyocyte injury by inhibiting ferroptosis, likely through activation of the HIF-1α/SLC7A11/GPX4 signaling pathway.

Ginseng and Bifidobacterium lactis synergistically improve vinorelbine-induced macrophage immunosuppression

SU Jialong, XU Guichuan, ZHENG Zhixin, ZHANG Enning, PENG Guiying

2026, 46(4):  547-554.  doi:10.16352/j.issn.1001-6325.2026.04.0547

Asbtract ( 37 )   PDF (3919KB) ( 12 )  

References | Related Articles | Metrics

Objective To investigate the modulatory effects of ginseng, Bifidobacterium lactis BL-99 and their combination on the immune function of macrophages under vinorelbine(VNR)-induced immunosuppression, and to preliminarily explore the underlying mechanisms. Methods Vinorelbine-induced immunosuppressive models were establi-shed in both zebrafish and the murine macrophage cell line RAW264.7. In zebrafish experiments, changes of macrophage number and phagocytic function were observed using transgenic fluorescent zebrafish. In cell experiments, the following assessments were conducted: RAW264.7 cell viability by CCK-8 assay, phagocytic function by neutral red assay, intracellular reactive oxygen species (ROS) levels by DCFH-DA fluorescence probe assay, apoptosis by annexin V/PI double staining, and the expression of apoptosis- and phagocytosis-related genes (Bcl2, caspase3,Msr1, Rac1) by RT-qPCR. Network pharmacology was used to predict the mechanism of ginseng. Results Compared to the control group, the model group showed a significant reduction in macrophage number and phagocyte function (P＜0.001). Both ginseng and BL-99 monotherapies significantly increased the number of macrophages and enhanced phagocytosis (P＜0.001), with the combined intervention group showing stronger effects(P＜0.05). In RAW264.7 cells, compared with the model group, cell viability and phagocytosis were significantly enhanced, reactive oxygen species levels and apoptosis rate was significantly decreased in the ginseng, BL-99 and their combination group(P＜0.01). RT-qPCR results showed that ginseng in combination with BL-99 upregulated the expression of Bcl2, Msr1 and Rac1 and downregulated the expression of caspase3(P＜0.01). Network pharmacological analysis suggested that the modulatory effect of ginseng on macrophage function under immunosuppressive conditions is closely associated with anti-apoptotic signaling pathways. Conclusions Ginseng and Bifidobacterium lactis BL-99 synergistically enhance macrophage immune function in the vinorelbine-induced immunosuppression model by alleviating oxidative stress and regulating the expression of apoptosis- and phagocytosis-related genes.

Dihydroartemisinin inhibits LL-37-induced pyroptosis in the human keratinocyte HaCaT

LI Ting, CHEN Xiangming, ZENG Qingwen, ZHANG Haiqing, HU Yang

2026, 46(4):  555-560.  doi:10.16352/j.issn.1001-6325.2026.04.0555

Asbtract ( 39 )   PDF (3050KB) ( 11 )  

References | Related Articles | Metrics

Objective To explore the effect of dihydroartemisinin (DHA) on LL-37-induced pyroptosis in human keratinocyte HaCaT cells. Methods HaCaT cells were divided into control group, model group(40 μg/mL LL-37), DHA low-dose group(DHA-L,40 μg/mL LL-37+10 μmol/L DHA), DHA medium-dose group(DHA-M, 40 μg/mL LL-37+25 μmol/L DHA) and DHA high-dose group (DHA-H,40 μg/mL LL-37+50 μmol/L DHA)and cultured for 48 hours after adding the corresponding reagents. Cell pyroptosis was detected by flow cytometry. Levels of IL-1βand IL-18 in cell supernatant were measured by enzyme-linked immunosorbent assay (ELISA). and the protein expressions of NOD-like receptor pyrin domain containing 3 (NLRP3), active caspase-1, gasdermin D-N(GSDMD-N) were detected with Western blot. Results Compared with the control group, the cell pyroptosis rate, the levels of IL-1β and IL-18, and the expression levels of NLRP3, active caspase-1, and GSDMD-N proteins were significantly increased in model group (P＜0.05); Compared with the model group, the cell pyroptosis rate was significantly reduced (P＜0.05) in DHA-L, DHA-M and DHA-H group; the levels of IL-1 β and IL-18, the protein expression of NLRP3, active caspase-1, and GSDMD-N were significantly decreased in DHA-L, DHA-M and DHA-H group (P＜0.05). Conclusions DHA attenuates LL-37-induced pyroptosis and inflammatory responses in HaCaT cells in a dose-dependent manner. This effect is potentially associated with the modulation of NLRP3 inflammasome-related protein expression, suggesting that DHA may possess promising anti-inflammatory properties.

Clinical Sciences

Cantu syndrome complicated with 22q11.2 duplication syndrome:a case report

SONG Yueyang, SHI Yajun, YU Xi, WEN Yingshi, SUN Miao

2026, 46(4):  561-565.  doi:10.16352/j.issn.1001-6325.2026.04.0561

Asbtract ( 43 )   PDF (2770KB) ( 9 )  

References | Related Articles | Metrics

Objective To investigate the clinical manifestations of Cantu syndrome complicated with 22q11.2 duplication syndrome and to raise awareness regarding the diagnosis of the co-occurrence of both genetic diseases. Methods Analyzing the clinical data and molecular genetic results of a patient with Cantu syndrome complicated with 22q11.2 duplication syndrome. Results The patient was an 11-year-old male who presented with chest tightness and shortness of breath for 3 days. He exhibited generalized hypertrichosis and distinctive facial features. Clinical examinations revealed that the patient had cardiac defects (patent foramen ovale and patent ductus arteriosus), tortuosity and dilation of cerebral blood vessels, and delayed bone age. Based on genetic testing, a heterozygous variant c.3605C＞T in the ABCC9 gene, confirming a diagnosis of Cantu syndrome. Additionally, a copy number duplication of approximately 2.87 Mb at the 22q11.21 chromosomal region was detected. Conclusions The 22q11.2 duplication syndrome exhibits incomplete penetrance. Its partial phenotypic overlap with Cantu syndrome pose a significant risk of missed diagnosis.

Influence factors and risk assessment model of hyperuricemia complicated with major adverse cardiovascular events

GUO Limin, SHI Li, SHE Qimei, GU Guiyan, LI Ailing

2026, 46(4):  566-571.  doi:10.16352/j.issn.1001-6325.2026.04.0566

Asbtract ( 37 )   PDF (1591KB) ( 10 )  

References | Related Articles | Metrics

Objective To explore the factors associated with major adverse cardiovascular events (MACE) in patients with hyperuricemia and to establish a corresponding risk assessment model. Methods A retrospective analysis was conducted on the data of 441 patients with hyperuricemia treated at Shijingshan Hospital, Beijing. Patients were divided into a modeling cohort (n=309) and a validation cohort (n=132), and further stratified based on the occurrence of MACE. The clinical data of the two groups were compared. Logistic regression analysis was used to analyze the influencing factors of hyperuricemia complicated with MACE. Based on these factors, a nomogram model was constructed and its predictive performance was validated. Results The overall incidence of MACE was 30.61%.The age, body massindex (BMI), suboptimal glycemic control, inadequate lipid management, blood uric acid (BUA), cystatin C (Cys C), and hypersensitive C-reactive protein (hs-CRP) were identified as the influencing factors of hyperuricemia combined with MACE (P＜0.05). The nomogram incorporating these variables demonstrated excellent discrimination, with area under the receiver operating characteristic curve (AUC) values of 0.939 in the modeling cohort and 0.872 in the validation cohort. The calibration curve showed high consistency between the predicted and actual probabilities of hyperuricemia complicated with MACE in both cohort. Furthermore, the Hosmer-Lemeshow test indicated good model fit. Conclusions Age, BMI, poor glycemic control, suboptimal lipid regulation, BUA, Cys C, hs-CRP are the influencing factors of hyperuricemia combined with MACE. The developed nomogram exhibits robust predictive accuracy and may serve as a practical tool for individualized risk assessment.

Clinical analysis of factors influencing surgical decision-making in 105 women with severe breast hypertrophy

LIU Qiuyun, ZHANG Wenchao, XIE Jiangmiao, Xia Zenan, LI Shuo, ZENG Ang

2026, 46(4):  572-576.  doi:10.16352/j.issn.1001-6325.2026.04.0572

Asbtract ( 39 )   PDF (846KB) ( 10 )  

References | Related Articles | Metrics

Objective To investigate factors influencing surgical decision-making in women with severe breast hypertrophy and provide a reference for procedure selection. Methods A total of 105 women with severe breast hypertrophy who attended the Department of Plastic and Aesthetic Surgery, Peking Union Medical College Hospital between January 2024 and March 2025 were retrospectively included. Demographic characteristics, clinical symptoms, surgical expectations and preferences for surgical techniques were collected. A standardized image-based educational protocol was adopted to assist preoperative counselling, and surgical preferences were compared between patients with different levels of understanding about breast reduction. Results The mean age of the patients was (38.46±9.21)years and the mean BMI was (25.28±4.66)kg/m². Shoulder and back pain were present in 61.9% and 55.2% of patients, respectively; 87.6% reported limitations in physical activity and 66.7% reported psychological distress. Preoperatively, only 50.5% of patients rated themselves as “clearly understanding the surgical procedure, and 68.6% obtained information through social media. Patients commonly expected postoperative breast volume reduction,improved symmetry, correction of ptosis and inconspicuous scars; the preferred postoperative cup size was mainly a B cup (52.1%) or “as small as possible” (30.1%). Before counselling, only 48.6% of patients tended to prefer an inverted-T incision, whereas after counselling, 97.3% (71/73) chose this incision pattern. Conclusions Patients with severe breast hypertrophy have relatively high acceptance of breast reduction surgery but exhibit limited systematic understanding of the procedure. Targeted preoperative counselling optimizes surgical decision-making for breast reduction in these patients and increases patients' acceptance of the inverted-T incision.

Early pregnancy zinc supplementation reduces the decline in erythrocyte parameters during pregnancy

LI Yunlong, LI Yuan, ZHANG Yuping, LI Rui, XU Yaxuan, LIU Yanping

2026, 46(4):  577-581.  doi:10.16352/j.issn.1001-6325.2026.04.0577

Asbtract ( 37 )   PDF (873KB) ( 8 )  

References | Related Articles | Metrics

Objective To examine the association between zinc status and erythrocyte parameters in early pregnancy, and to evaluate the effect of zinc supplementation during early gestation on subsequent changes in erythrocyte parameters. Methods A retrospective cohort study was conducted, enrolling 100 women in early pregnancy who attended their first antenatal nutrition consultation at Peking Union Medical College Hospital in 2024. Participants were classified into a zinc supplementation group(n=25) and a control group(n=75) based on the presence of zinc deficiency(serum zinc ＜700 μg/L) and receipt of zinc supplementation(zinc sulfate 150 mg/day). All participants underwent follow-up in mid-pregnancy, during which serum trace elements and erythrocyte parameters were reassessed. Routine antenatal care and nutritional counseling were provided to all. Using early pregnancy as the baseline, changes(Δ) in trace elements and erythrocyte parameters by mid-pregnancy were calculated. Welch′s t-test was used to assess between-group differences, while linear mixed-effects models were employed to evaluate the longitudinal impact of zinc supplementation on erythrocyte parameters, controlling for individual variability and adjusting for age, parity, pre-pregnancy body mass index, and trace element levels. Results In early pregnancy, serum zinc, serum ferritin, hemoglobin(Hb), red blood cell count(RBC), and hematocrit(Hct) were significantly lower in the zinc supplementation group than in the control group(all P＜0.05), and their subsequent declines were significantly attenuated by mid-pregnancy. Linear mixed-effects modelling showed that zinc supplementation was an independent protective factor for Hb, RBC, and Hct, ssociated with higher levels of these parameters by 4.98 g/L, 0.17×10¹²/L, and 1.43%, respectively, in mid-pregnancy compared to the control group(all P＜0.001). Conclusions Zinc supplementation in early pregnancy significantly reduces the mid-pregnancy decline in ferritin and erythrocyte parameters. These findings provide new insights into the prevention and management of anemia during pregnancy and offer evidence-based support for zinc nutritional interventions in gestation.

Mini Reviews

Research progress on fatty acid metabolism reprogramming in diffuse large B-cell lymphoma

LIU Jingjing, LI Yan

2026, 46(4):  582-586.  doi:10.16352/j.issn.1001-6325.2026.04.0582

Asbtract ( 49 )   PDF (838KB) ( 21 )  

References | Related Articles | Metrics

Diffuse large B-cell lymphoma (DLBCL) is the most common subtype of non-Hodgkin lymphoma, and its progression is closely linked to the tumor microenvironment. Fatty acid metabolic reprogramming is one of the core aspects of tumor metabolic reprogramming. In DLBCL, abnormal regulation of fatty acid synthesis, uptake, and β-oxidation not only provides energy and structural materials for rapid tumor cell proliferation, but also influences disease initiation and progression by regulating signaling pathways and epigenetic modifications. This article reviews the roles of fatty acid metabolic enzymes, signaling pathways, and the microenvironment, and explores potential diagnostic biomarkers or therapeutic targets, aiming to provide new insights for elucidating molecular mechanisms underlying DLBCL development and advancing precise therapy.

Research progress of olfactomedin 4 in regulating immune inflammatory response

WU Yi, XIA Likun

2026, 46(4):  587-591.  doi:10.16352/j.issn.1001-6325.2026.04.0587

Asbtract ( 40 )   PDF (997KB) ( 17 )  

References | Related Articles | Metrics

Olfactomedin 4 (OLFM4) is an olfactomedin domain family glycoprotein that plays an important role in immune regulation, cell apoptosis and anti-microbial infection. It can affect the activation, migration and apoptosis of immune cells, epithelial cells and tumor cells. OLFM4 has important relationships with multiple signal transduction pathway factors, including β-catenin,NF-κB,STAT3,MAPK and cGAS-STING. In recent years, with advancing research on OLFM4, it has been found that the abnormal expression of OLFM4 is closely related to the prognosis of infectious diseases, tumor development and a variety of inflammatory diseases, which suggests that OLFM4 is a potential early biomarker for diseases and a potential target for clinical therapeutics.

Advances in hydrogen sulfide therapy for acute lung injury

ZHU Min, TANG Miaomiao

2026, 46(4):  592-596.  doi:10.16352/j.issn.1001-6325.2026.04.0592

Asbtract ( 47 )   PDF (844KB) ( 26 )  

References | Related Articles | Metrics

Hydrogen sulfide (H₂S), as a gaseous signaling molecule, can significantly alleviate acute lung injury (ALI)/acute respiratory distress syndrome (ARDS) and delay disease progression. H₂S exerts its effects by suppressing the release of pro-inflammatory factors and reducing oxidative stress through its anti-inflammatory and antioxidant properties; it mitigates lung tissue damage by regulating various forms of cell death, including apoptosis, autophagy, pyroptosis, and ferroptosis; and it maintains the integrity of the pulmonary vascular endothelial barrier, thereby reducing pulmonary edema. Additionally, H₂S can modulate the activity of related proteins via sulfhydration, contributing to its lung-protective effects.

Role of neutrophil extracellular traps in sepsis-related acute lung injury

YUAN Ce, YE Cuicui, GUO Chang′an, LUO Laisheng, LIU Yuezhen

2026, 46(4):  597-601.  doi:10.16352/j.issn.1001-6325.2026.04.0597

Asbtract ( 40 )   PDF (998KB) ( 12 )  

References | Related Articles | Metrics

Sepsis is a clinical syndrome caused by inflammatory responses after infection. Neutrophils are a type of innate immune cell and are pioneers in reaching the site of infection and inflammation to clear the infection and eliminate the inflammatory response. Neutrophils can capture pathogenic microorganisms by releasing neutrophil extracellular traps (NETs) and participate in inflammatory responses and bacterial killing and clearance. However, their excessive activation can lead to an inflammatory storm in the body, which in turn damages tissues and causes organ dysfunction. A moderate release of NETs can clear the pathogens in sepsis-induced lung injury, but excessive generation leads to irreversible tissue damage. Currently, small molecule inhibitors such as GSK199, sivelestat and DNase Ⅰ have been applied in basic experimental research to control the release of NETs in the body.

Research Progress on neuroinflammation-mediated postoperative cognitive dysfunction

YIN Jing, CHEN Chunling

2026, 46(4):  602-606.  doi:10.16352/j.issn.1001-6325.2026.04.0602

Asbtract ( 59 )   PDF (1000KB) ( 19 )  

References | Related Articles | Metrics

The core mechanism of postoperative cognitive dysfunction (POCD) involves a cascade activation of perioperative neuroinflammatory responses. Surgical trauma releases damage-associated molecular patterns (DAMPs), which activate the peripheral TLR4/NF-κB pathway, leading to the release of pro-inflammatory cytokines (IL-1β, TNF-α). These cytokines disrupt blood-brain barrier integrity or transmit signals via the vagus nerve to the central nervous system, driving the polarization of microglia toward the pro-inflammatory M1 phenotype and activating astrocytes. Activated glial cells release reactive oxygen species (ROS) and inflammatory mediators, which directly impair neuronal mitochondrial function, suppress synaptic plasticity, and induce glutamate excitotoxicity. Perioperative synergistic factors (e.g., anesthetics, postoperative pain, circadian rhythm disruption) further amplify neuroinflammation by activating the NLRP3 inflammasome, suppressing clock gene (Bmal1/Per2) expression, and enhancing gut microbiota dysbiosis-mediated lipopolysaccharide (LPS)-TLR4 signaling, thereby forming a “peripheral-central” inflammatory vicious cycle. Imbalanced glial polarization (dysfunctional M1/M2 phenotype switching) and interactions between inflammatory factors and neurons (e.g., HMGB1-mediated overactivation of NMDA receptors) collectively contribute to synaptic dysfunction and cognitive decline. Elucidating the dynamic regulatory network of neuroinflammation is pivotal l for developing precise interventions for POCD.