1.A case of occipitotemporal cavernous hemangioma
Jianxin FAN ; Xuefeng SHI ; Yanming HAN ; Lishan MA ; Xinding ZHANG
Chinese Journal of Nervous and Mental Diseases 2025;51(5):292-294
This report describes a 72-year-old male patient with occipitotemporal cavernous hemangioma(CCH).The patient presented with persistent pain in the right occipital and retro auricular areas for over one year.Physical examination detected a tender mass in the right occipital region.Imaging studies showed destruction of the right occipitotemporal bone with a heterogeneous signal mass and irregular enhancement on magnetic resonance imaging(MRI).Positron emission tomography/computed tomography(PET/CT)examination revealed increased fluorodeoxyglucose(FDG)uptake(SUVmax=5.9),suggesting a benign lesion.Complete surgical excision of the tumor and involved skull was performed,with pathological diagnosis confirming cavernous hemangioma.The patient's symptoms completely resolved with no recurrence during three months of follow-up.This case represents the first report of PET/CT application in diagnosing occipitotemporal CCH,providing valuable reference for improving diagnostic accuracy and reducing misdiagnosis rates for this rare condition.
2.Assessment of the relationship between spatial navigation impairment and dynamic functional connectivity in individuals with subjective cognitive decline across different traditional Chinese medicine constitutions
Weiping LI ; Shuying LI ; Xuefeng MA ; Hai LU ; Qian CHEN ; Peihua SHEN ; Jiaming LU ; Xin ZHANG ; Bing ZHANG
Chinese Journal of Internal Medicine 2025;64(12):1226-1234
Objective:To investigate the relationship between alterations in dynamic functional connectivity (dFC) and spatial navigation abilities in individuals with subjective cognitive decline (SCD) across different Traditional Chinese Medicine (TCM) constitutions.Methods:Seventy-five participants with SCD, comprising 34 individuals with balanced constitutions and 41 individuals with biased constitutions, were recruited from the Affiliated Drum Tower Hospital of Nanjing University Medical School between August 2022 and January 2025. The participants underwent TCM constitution assessment, spatial navigation ability testing, and neuropsychological scale evaluation. Additionally, each participant was assessed using 3.0 T resting-state functional magnetic resonance imaging (rs-fMRI) and high-resolution T1-weighted imaging scans. Based on prior research, 20 spatial navigation-related regions of interest (ROIs) were defined. Afterwards, rs-fMRI time series were segmented using a sliding time window approach before calculating the dFC within the spatial navigation brain network.Results:Compared to the balanced constitution group, the biased constitution SCD group showed significantly lower scores on the Mini-Mental State Examination (MMSE) ( z=-3.05, P=0.002) and the Auditory Verbal Learning Test (AVLT) measures: immediate recall ( z=-2.12, P=0.035), short-delay recall ( z=-2.22, P=0.026), long-delay recall ( z=-2.88, P=0.004), cued recall ( z=-2.91, P=0.004), and recognition ( z=-2.20, P=0.028). They also exhibited significantly higher average error distances in ego-allocentric navigation ( z=-2.28, P=0.023), egocentric navigation ( z=-2.31, P=0.021), and delayed navigation ( z=-2.02, P=0.043). Participants with SCD who had a biased constitution also demonstrated significantly reduced dFC between the left parahippocampal gyrus (PHG) and left prefrontal cortex (PFC) ( t=2.43), right precuneus and right retrosplenial cortex (RSC) ( t=2.96), and left inferior parietal lobule (IPL) and left hippocampus ( t=2.42) (all P<0.05, Bonferroni-corrected). Conversely, the dFC was significantly increased between the right PHG and left PFC ( t=-2.29, P<0.05, Bonferroni-corrected). Significant correlations were also found in participants with SCD who had biased constitutions: the dFC between the left PHG and left PFC positively correlated with the egocentric navigation average total error ( r=0.34, P=0.030) and negatively correlated with the visuospatial memory cognitive domain ( r=-0.35, P=0.026); the dFC between the left IPL and left hippocampus negatively correlated with the egocentric navigation average total error ( r=-0.32, P=0.043); and the dFC between the right PHG and left PFC positively correlated with the delayed navigation average total error ( r=0.33, P=0.037). The area under the ROC curve for the combined differences in cognitive assessments, spatial navigation behavior, and navigation-related brain network dFC was 0.966 in predicting biased constitution versus balanced constitution in participants with SCD. Conclusions:Individuals with SCD and biased constitutions demonstrated poorer spatial navigation ability, possibly due to altered dFC within the spatial navigation brain network. Furthermore, the integrated model based on spatial navigation behaviors and dFC exhibited a high predictive value in distinguishing between individuals with SCD who had balanced and biased constitutions.
3.Laboratory testing for non-factor therapy in hemophilia: progress and challenges from traditional to innovative approaches
Jing DAI ; Xiaoli MA ; Yu LIU ; Xuefeng WANG
Chinese Journal of Laboratory Medicine 2025;48(8):953-961
Hemophilia A and hemophilia B are hereditary coagulation bleeding disorders. Traditional treatment primarily relies on factor replacement therapy using coagulation factor Ⅷ(FⅧ) or coagulation factor Ⅸ (FⅨ)products. Although conventional therapies can alleviate bleeding symptoms to some extent, they also have certain limitations, such as the need for frequent infusions, the risk of infection, and the potential development of inhibitors in some patients. Currently, treatment strategies for hemophilia are gradually shifting toward non-factor therapies, providing the appearence of novel non-factor drugs. However, these novel therapies not only interfere with traditional coagulation assays but may also fail to comprehensively evaluate their efficacy and safety through conventional coagulation tests. Therefore, there is an urgent need to develop and optimize new laboratory testing methods to ensure accurate assessment of patients′ responses to non-factor therapies and the hemostatic capacity of the drugs themselves. Although some studies have explored the coagulation factor equivalence of non-factor agents, such equivalence cannot fully reflect the actual hemostatic effect in patients after treatment and is therefore unsuitable as a prognostic indicator. Compared with assessing coagulation factor equivalence, total coagulation assays, such as the thrombin generation assay (TGA), can more accurately evaluate efficacy and safety. TGA can take into account multiple factors in the coagulation process, providing a more comprehensive assessment of coagulation function. Furthermore, combining TGA with patient symptoms for comprehensive analysis can enhance its prognostic predictive ability, offering more reliable support for clinical decision-making.
4.Laboratory diagnosis of congenital coagulation factor Ⅶ deficiency combined with antiphospholipid syndrome and literature review
Zhijun MENG ; Guanqun XU ; Yu LIU ; Chi MA ; Qiulan DING ; Jing DAI ; Wenman WU ; Xuefeng WANG
Chinese Journal of Laboratory Medicine 2025;48(8):1091-1094
Congenital coagulation factor Ⅶ deficiency is a rare autosomal incomplete recessive disorder caused by a defect in the coagulation factor Ⅶ (FⅦ) gene, with an incidence of approximately 1 in 500 000. Antiphospholipid antibody syndrome is relatively common and is a common cause of acquired thrombosis. However, the combination of the latter and the former is extremely rare in clinical practice, which brings difficulties to diagnosis and treatment. This article reported the laboratory examination, diagnosis and treatment of a patient with congenital coagulation factor Ⅶ deficiency and antiphospholipid syndrome after portal vein thrombosis, and reviewed the relevant literature.
5.Two-sample Mendelian randomization analysis of the association between dairy products and risk of osteoarthritis
Xuefeng LEI ; Wenzheng ZHANG ; Jiazhong JI ; Long XUE ; Tao YANG ; Tao WEN ; Tong MA ; Yihui TU ; Huaming XUE
Chinese Journal of Rheumatology 2025;29(8):668-673
Objective:A bidirectional Mendelian randomization approach was applied to dissect the causal association between dairy product consumption and osteoarthritis (OA), so to offering novel insights for the prevention, treatment, and prognosis assessment of knee osteoarthritis (KOA).Methods:A two-sample Mendelian randomization (MR) analysis was conducted using public available genome-wide association studies. The primary analysis was performed using the inverse variance weighted (IVW) method. To assess the stability and reliability of the results, we compared IVW and MR-Egger regression using Cochran′s Q test to evaluate SNP heterogeneity. MR-Egger regression was employed to assess pleiotropy, while a leave-one-out approach was used for sensitivity analysis. Results:Based on 207 instrumental variables (IVs), two-sample MR analysis revealed that for each standard deviation increase in genetically predicted cheese intake, the risk of OA was significantly negatively associated [ OR(95% CI)=0.98(0.98, 0.99), P<0.001], so did the risk of KOA [ OR(95% CI)=0.73(0.63, 0.85), P<0.001]. However, no significant association was found between OA risk and the intake of full-fat milk (30 IVs), semi-skimmed milk (15 IVs), skimmed milk (32 IVs), soy milk (25 IVs), or other types of milk (13 IVs), yogurt (11 IVs), or butter (3 IVs). Conclusion:The two-sample MR analysis revealed causally inverse associations between cheese intake and OA as well as KOA.
6.High expression of DTX2 promotes proliferation, invasion and epithelial-mesenchymal transition of oxaliplatin-resistant colorectal cancer cells.
Zhennan MA ; Fuquan LIU ; Xuefeng ZHAO ; Xiaowei ZHANG
Journal of Southern Medical University 2025;45(4):829-836
OBJECTIVES:
To investigate the role of DTX2 in regulating biological behaviors of oxaliplatin-resistant colorectal cancer cells (CRC/OXA cells).
METHODS:
CCK8 assay was used to determine the inhibition rate of oxaliplatin-treated CRC cells. A CRC/OXA cell line was constructed, in which DTX2 expression level was detected. The cells were transfected with a DTX2-shRNA plasmid or co-transfected with DTX2-shRNA and pcDNA-Notch2, and the changes in cell proliferation, migration and invasion ability were evaluated using plate cloning assay, scratch assay and Transwell invasion assay. The expression levels of Notch2, NICD and epithelial-mesenchymal transition (EMT) proteins of the transfected cells were detected with Western blotting. In a nude mouse model bearing SW620/OXA cell xenografts, the effects of DTX2 knockdown and Notch2 overexpression in the implanted cells on tumor growth and protein expressions were tested.
RESULTS:
The IC50 of oxaliplatin was 6.00 μmol/L in SW620 cells and 8.00 μmol/L in LoVo cells. CRC/OXA cells showed a significantly increased expression of DTX2. DTX2 knockdown in CRC/OXA cells significantly inhibited cell proliferation, migration and invasion, and these effects were reversed by co-transfection of the cells with pcDNA-Notch2. DTX2 knockdown significantly reduced the expression levels of Notch2, NICD and vimentin proteins and increased E-cadherin expression in CRC/OXA cells, and co-transfection with pcDNA-Notch2 potently attenuated the changes in these proteins. In the tumor-bearing mice, DTX2 overexpression obviously promoted the growth of SW620/OXA cell xenograft, enhanced the protein expressions of Notch2, NICD and vimentin, and lowered the expression of E-cadherin.
CONCLUSIONS
High expression of DTX2 promotes proliferation, migration, invasion and EMT of CRC/OXA cells through the Notch2 signaling pathway, suggesting the potential of DTX2 as a target to improve the efficacy of oxaliplatin.
Epithelial-Mesenchymal Transition
;
Humans
;
Cell Proliferation
;
Oxaliplatin
;
Colorectal Neoplasms/metabolism*
;
Animals
;
Drug Resistance, Neoplasm
;
Receptor, Notch2/metabolism*
;
Cell Line, Tumor
;
Mice, Nude
;
Cell Movement
;
Organoplatinum Compounds/pharmacology*
;
Neoplasm Invasiveness
;
Mice
7.A case of occipitotemporal cavernous hemangioma
Jianxin FAN ; Xuefeng SHI ; Yanming HAN ; Lishan MA ; Xinding ZHANG
Chinese Journal of Nervous and Mental Diseases 2025;51(5):292-294
This report describes a 72-year-old male patient with occipitotemporal cavernous hemangioma(CCH).The patient presented with persistent pain in the right occipital and retro auricular areas for over one year.Physical examination detected a tender mass in the right occipital region.Imaging studies showed destruction of the right occipitotemporal bone with a heterogeneous signal mass and irregular enhancement on magnetic resonance imaging(MRI).Positron emission tomography/computed tomography(PET/CT)examination revealed increased fluorodeoxyglucose(FDG)uptake(SUVmax=5.9),suggesting a benign lesion.Complete surgical excision of the tumor and involved skull was performed,with pathological diagnosis confirming cavernous hemangioma.The patient's symptoms completely resolved with no recurrence during three months of follow-up.This case represents the first report of PET/CT application in diagnosing occipitotemporal CCH,providing valuable reference for improving diagnostic accuracy and reducing misdiagnosis rates for this rare condition.
8.Assessment of the relationship between spatial navigation impairment and dynamic functional connectivity in individuals with subjective cognitive decline across different traditional Chinese medicine constitutions
Weiping LI ; Shuying LI ; Xuefeng MA ; Hai LU ; Qian CHEN ; Peihua SHEN ; Jiaming LU ; Xin ZHANG ; Bing ZHANG
Chinese Journal of Internal Medicine 2025;64(12):1226-1234
Objective:To investigate the relationship between alterations in dynamic functional connectivity (dFC) and spatial navigation abilities in individuals with subjective cognitive decline (SCD) across different Traditional Chinese Medicine (TCM) constitutions.Methods:Seventy-five participants with SCD, comprising 34 individuals with balanced constitutions and 41 individuals with biased constitutions, were recruited from the Affiliated Drum Tower Hospital of Nanjing University Medical School between August 2022 and January 2025. The participants underwent TCM constitution assessment, spatial navigation ability testing, and neuropsychological scale evaluation. Additionally, each participant was assessed using 3.0 T resting-state functional magnetic resonance imaging (rs-fMRI) and high-resolution T1-weighted imaging scans. Based on prior research, 20 spatial navigation-related regions of interest (ROIs) were defined. Afterwards, rs-fMRI time series were segmented using a sliding time window approach before calculating the dFC within the spatial navigation brain network.Results:Compared to the balanced constitution group, the biased constitution SCD group showed significantly lower scores on the Mini-Mental State Examination (MMSE) ( z=-3.05, P=0.002) and the Auditory Verbal Learning Test (AVLT) measures: immediate recall ( z=-2.12, P=0.035), short-delay recall ( z=-2.22, P=0.026), long-delay recall ( z=-2.88, P=0.004), cued recall ( z=-2.91, P=0.004), and recognition ( z=-2.20, P=0.028). They also exhibited significantly higher average error distances in ego-allocentric navigation ( z=-2.28, P=0.023), egocentric navigation ( z=-2.31, P=0.021), and delayed navigation ( z=-2.02, P=0.043). Participants with SCD who had a biased constitution also demonstrated significantly reduced dFC between the left parahippocampal gyrus (PHG) and left prefrontal cortex (PFC) ( t=2.43), right precuneus and right retrosplenial cortex (RSC) ( t=2.96), and left inferior parietal lobule (IPL) and left hippocampus ( t=2.42) (all P<0.05, Bonferroni-corrected). Conversely, the dFC was significantly increased between the right PHG and left PFC ( t=-2.29, P<0.05, Bonferroni-corrected). Significant correlations were also found in participants with SCD who had biased constitutions: the dFC between the left PHG and left PFC positively correlated with the egocentric navigation average total error ( r=0.34, P=0.030) and negatively correlated with the visuospatial memory cognitive domain ( r=-0.35, P=0.026); the dFC between the left IPL and left hippocampus negatively correlated with the egocentric navigation average total error ( r=-0.32, P=0.043); and the dFC between the right PHG and left PFC positively correlated with the delayed navigation average total error ( r=0.33, P=0.037). The area under the ROC curve for the combined differences in cognitive assessments, spatial navigation behavior, and navigation-related brain network dFC was 0.966 in predicting biased constitution versus balanced constitution in participants with SCD. Conclusions:Individuals with SCD and biased constitutions demonstrated poorer spatial navigation ability, possibly due to altered dFC within the spatial navigation brain network. Furthermore, the integrated model based on spatial navigation behaviors and dFC exhibited a high predictive value in distinguishing between individuals with SCD who had balanced and biased constitutions.
9.Laboratory testing for non-factor therapy in hemophilia: progress and challenges from traditional to innovative approaches
Jing DAI ; Xiaoli MA ; Yu LIU ; Xuefeng WANG
Chinese Journal of Laboratory Medicine 2025;48(8):953-961
Hemophilia A and hemophilia B are hereditary coagulation bleeding disorders. Traditional treatment primarily relies on factor replacement therapy using coagulation factor Ⅷ(FⅧ) or coagulation factor Ⅸ (FⅨ)products. Although conventional therapies can alleviate bleeding symptoms to some extent, they also have certain limitations, such as the need for frequent infusions, the risk of infection, and the potential development of inhibitors in some patients. Currently, treatment strategies for hemophilia are gradually shifting toward non-factor therapies, providing the appearence of novel non-factor drugs. However, these novel therapies not only interfere with traditional coagulation assays but may also fail to comprehensively evaluate their efficacy and safety through conventional coagulation tests. Therefore, there is an urgent need to develop and optimize new laboratory testing methods to ensure accurate assessment of patients′ responses to non-factor therapies and the hemostatic capacity of the drugs themselves. Although some studies have explored the coagulation factor equivalence of non-factor agents, such equivalence cannot fully reflect the actual hemostatic effect in patients after treatment and is therefore unsuitable as a prognostic indicator. Compared with assessing coagulation factor equivalence, total coagulation assays, such as the thrombin generation assay (TGA), can more accurately evaluate efficacy and safety. TGA can take into account multiple factors in the coagulation process, providing a more comprehensive assessment of coagulation function. Furthermore, combining TGA with patient symptoms for comprehensive analysis can enhance its prognostic predictive ability, offering more reliable support for clinical decision-making.
10.Laboratory diagnosis of congenital coagulation factor Ⅶ deficiency combined with antiphospholipid syndrome and literature review
Zhijun MENG ; Guanqun XU ; Yu LIU ; Chi MA ; Qiulan DING ; Jing DAI ; Wenman WU ; Xuefeng WANG
Chinese Journal of Laboratory Medicine 2025;48(8):1091-1094
Congenital coagulation factor Ⅶ deficiency is a rare autosomal incomplete recessive disorder caused by a defect in the coagulation factor Ⅶ (FⅦ) gene, with an incidence of approximately 1 in 500 000. Antiphospholipid antibody syndrome is relatively common and is a common cause of acquired thrombosis. However, the combination of the latter and the former is extremely rare in clinical practice, which brings difficulties to diagnosis and treatment. This article reported the laboratory examination, diagnosis and treatment of a patient with congenital coagulation factor Ⅶ deficiency and antiphospholipid syndrome after portal vein thrombosis, and reviewed the relevant literature.

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