1.The Clinical and Genetics Characteristics of Oculopharyngodistal Myopathy
Jiaxi YU ; Zhihao QUAN ; Yilei ZHENG ; Jing AN ; Jing LIU ; Qingqing WANG ; Lingchao MENG ; Meng YU ; Zhiying XIE ; Jianwen DENG ; He LYU ; Wei ZHANG ; Yun YUAN ; Zhaoxia WANG
JOURNAL OF RARE DISEASES 2026;5(2):164-174
To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes. A total of 65 genetically confirmed OPDM patients from 43 unrelated families, who were admitted to the Department of Neurology, Peking University First Hospital between January 2008 and December 2025, were retrospectively included.The general demographic data, clinical manifestations, laboratory/auxiliary examinations, muscle pathology, and genetic test results were systematically collected and analyzed. The clinical and pathological characteristics among different OPDM subtypes were compared. Among the 65 patients(39 male and 26 female), the mean age of onset was (31.20±10.43) years (range: 14 to 63 years). The initial symptom was predominantly distal limb weakness (67.44%), which gradually progressed to involve the extraocular muscles, pharyngeal muscles, facial muscles and proximal limb muscles. Serum creatine kinase levels were mildly to moderately elevated. Muscle pathological examinations revealed rimmed vacuoles and intranuclear inclusions (within muscle fibers). The mean duration from onset to diagnosis was (12.33±7.88) years (range: 1 to 32 years). All probands had negative results on conventional next-generation whole-exome sequencing; pathogenic variants were identified through third-generation long-read sequencing or OPDM-targeted repeat-primed polymerase chain reaction(RP-PCR). Among the 43 families, OPDM2 subtype was the most common genetic subtype ( OPDM2 was the predominant subtype in this study. All subtypes share similar age of onset and muscular pathological changes, yet exhibit distinct disease progression patterns. Future multicenter prospective cohort studies are warranted to further elucidate the clinical characteristics, pathogenetic mechanisms, and prognostic differences among OPDM subtypes.
2.Construction of prognostic nomogram prediction model of differentiated thyroid cancer surgery combined with iodine-131 therapy based on 18F-FDG PET/CT and tumor markers
Dong-qiong CHEN ; Jian-wei LIU ; Dan JIANG ; Zhi-quan LI
Chinese Journal of Current Advances in General Surgery 2025;28(10):763-768
Objective:To investigate the relationship between 18F-fluoro-2-deoxy-d-glucose positron emission tomography/computed tomography(18F-FDG PET/CT)and tumor markers and the prognosis of patients with differentiated thyroid cancer(DTC)treated with surgery combined with iodine-131,and to construct a nomogram prediction model.Methods:The clinical data of 134 patients with DTC who underwent surgery combined with iodine-131 treatment in our hospital from January 2021 to January 2023 were retrospectively analyzed.According to the prognosis after 1 year of treatment,they were divided into a good prognosis group(n=106)and a poor prognosis group(n=28).The general data,18F-FDG PET/CT related parameters[maximum standardized uptake value(SUVmax),metabolic volume(MTV),total lesion gly-colysis(TLG)]and serum tumor markers[thyroglobulin(Tg),thyroglobulin antibody(TgAb)]levels were compared between the two groups.Pearson correlation coefficient was used to analyze the correlation between the related parameters and the tumor marker levels.Logistic multivariate analysis was used to analyze the influencing factors of DTC prognosis.Re-ceiver operating characteristic curve(ROC)was used to analyze the predictive efficacy of related parameters combined with tumor markers on poor prognosis.Anomogram prediction model for poor prognosis was constructed and the predic-tive efficacy of the model was evaluated.Results:The proportion of stage Ⅲ-Ⅳ,the proportion of total resection and the levels of thyroid stimulating hormone(TSH),SUVmax,MTV,TLG,Tg and TgAb in the poor prognosis group were higher than those in the good prognosis group,and the differences were statistically significant(P<0.05).Pearson correlation co-efficient showed that SUVmax,MTV,TLG and Tg,TgAb levels were positively correlated with tumor markers(P<0.05).Lo-gistic analysis showed that after adjusting for confounding variables,SUVmax,MTV,TLG,Tg and TgAb were independent influencing factors for the poor prognosis of DTC(P<0.05).ROC analysis showed that the combination of SUVmax,MTV,TLG,Tg and TgAb was significantly better than each parameter alone in predicting poor prognosis(P<0.05).The nomo-gram prediction model was constructed.ROC evaluation showed that the model had good prediction performance.K-fold cross validation showed that the model had stable performance and good generalization ability.Conclusion:The 18F-FDG PET/CT related parameters SUVmax,MTV,TLG and tumor markers Tg and TgAb are all independent factors affecting the poor prognosis of DTC patients treated with surgery combined with iodine-131.The prognostic nomogram prediction model based on the above factors has good predictive efficacy and can be used to guide clinical decision-making.
3.Expert Consensus on the Ethical Requirements for Generative AI-Assisted Academic Writing
You-Quan BU ; Yong-Fu CAO ; Zeng-Yi CHANG ; Hong-Yu CHEN ; Xiao-Wei CHEN ; Yuan-Yuan CHEN ; Zhu-Cheng CHEN ; Rui DENG ; Jie DING ; Zhong-Kai FAN ; Guo-Quan GAO ; Xu GAO ; Lan HU ; Xiao-Qing HU ; Hong-Ti JIA ; Ying KONG ; En-Min LI ; Ling LI ; Yu-Hua LI ; Jun-Rong LIU ; Zhi-Qiang LIU ; Ya-Ping LUO ; Xue-Mei LV ; Yan-Xi PEI ; Xiao-Zhong PENG ; Qi-Qun TANG ; You WAN ; Yong WANG ; Ming-Xu WANG ; Xian WANG ; Guang-Kuan XIE ; Jun XIE ; Xiao-Hua YAN ; Mei YIN ; Zhong-Shan YU ; Chun-Yan ZHOU ; Rui-Fang ZHU
Chinese Journal of Biochemistry and Molecular Biology 2025;41(6):826-832
With the rapid development of generative artificial intelligence(GAI)technologies,their widespread application in academic research and writing is continuously expanding the boundaries of sci-entific inquiry.However,this trend has also raised a series of ethical and regulatory challenges,inclu-ding issues related to authorship,content authenticity,citation accuracy,and accountability.In light of the growing involvement of AI in generating academic content,establishing an open,controllable,and trustworthy ethical governance framework has become a key task for safeguarding research integrity and maintaining trust within the academic community.This expert consensus outlines ethical requirements across key stages of AI-assisted academic writing-including topic selection,data management,citation practices,and authorship attribution.It aims to clarify the boundaries and ethical obligations surrounding AI use in academic writing,ensuring that technological tools enhance efficiency without compromising in-tegrity.The goal is to provide guidance and institutional support for building a responsible and sustainable research ecosystem.
4.Application and Progress of Organs-on-chips Technology in Chinese Materia Medica Research
Wei CHEN ; Weidong ZHANG ; Quan ZHAO ; Fang WANG ; Wei HUANG ; Chanming LIU ; Yueqin ZHU ; Jing ZHANG ; Feng HUA
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(11):187-192
In recent years,organs-on-chips(OOCs)technology has gradually matured and been recognized by regulatory agencies,playing a key role in the construction of pathophysiological models,pharmacodynamic screening,toxicological evaluation and other fields,providing guidance for the research and development of innovative drugs of Chinese materia medica and the clinical application of classic prescriptions.This article reviewed the application progress of OOCs technology in the research of Chinese materia medica from four dimensions:pharmacodynamic and toxicological evaluation,quality control,active component analysis and innovative drug research and development,in order to provide a reference for the precise application of this technology in the field of Chinese materia medica.
5.Effects of Jiedu Yizhi Formula on neuroinflammation in a mouse model of Alzheimer's disease via PI3K/Akt/mTOR signaling pathway
Jie WANG ; Jian LIU ; Xiao-ting ZHU ; Yun-qiang LI ; Xin-yue ZHANG ; Fan LI ; Jia-li WU ; Wei LI ; Ming-quan LI
Chinese Traditional Patent Medicine 2025;47(6):1843-1852
AIM To investigate the mechanism of Jiedu Yizhi Formula on cognitive function and neuroinflammation in a mouse model of Alzheimer's disease(AD).METHODS 50 APP/PS1 double transgenic mice were randomly divided into the model group,the donepezil group,and the low-dose,moderate-dose,and high-dose Jiedu Yizhi Formula group(1.78,3.56 and 7.12 g/kg),with 10 mice in each group,in contrast to the 10 WT mice of the blank group.Following anesthesia administration and 8-week oral gavage regimen with respective drugs,all mice underwent final tissue sample collection.The mice had their learning and memory ability assessed by Morris water maze and nesting behavior scores;their pathology of brain tissue and Aβ expression observed using HE,Nissl and IHC staining;their polarization of microglia and the expression of inflammatory factors in hippocampal tissue detected by IF and ELISA;their hippocampal expression of PI3K/Akt/mTOR signaling pathway detected by RT-qPCR and Western blot.RESULTS Compared with the blank group,the model group had lower scores in total swimming distance,frequency in crossing the platform,residence time in the target quadrant,and nesting behavior scores(P<0.05,P<0.01);prolonged evasion latency(P<0.01);more disorganized arrangement of pyramidal cells,solidification and deep staining,unclear demarcation,irregular cell shapes,reduction of Nyctinidia,and increased Aβ deposition in the brain tissue(P<0.01);elevated expression of hippocampal microglia M1-type markers CD16/32 and lba-1(P<0.01);decreased levels of M2-type marker CD206(P<0.05);elevated levels of TNF-α and IL-1β(P<0.01);decreased expressions of IL-13 and IL-4(P<0.01);and decreased levels of PI3K,Akt and mTOR mRNA,and reduced p-PI3K,p-Akt and p-mTOR protein expressions(P<0.01).Compared to the model group,the donepezil group and the Jiedu Yizhi Formula groups showed statistically significant improvements in the aforementioned indexes(P<0.05,P<0.01),with the magnitude of improvement being higher in the high-dose Jiedu Yizhi Formula group.CONCLUSION Jiedu Yizhi Formula suppresses microglia Ml-type polarization while enhancing M2-type polarization via activation the PI3K/Akt/mTOR signaling pathway,which subsequently reduces inflammatory cytokine secretion.This mechanism attenuates Aβ deposition in brain tissues and ameliorates cognitive dysfunction in AD mouse models.
6.Role of cordycepin in resisting Neospora caninum infection
Zhengkai WEI ; Rongsheng HUANG ; Xi JIANG ; Dezhi ZHANG ; Quan LIU ; Qianyong LI ; Zhengtao YANG
Chinese Journal of Veterinary Science 2025;45(6):1218-1224
Bovine neosporosis,a significant disease affecting the livestock industry,is caused by the protozoan parasite Neospora caninum(N.caninum).The current absence of efficacious vaccines and therapeutics necessitates the exploration of novel interventions.Cordycepin,a bioactive nucleo-side derived from Cordyceps militaris,has garnered attention for its diverse pharmacological properties.This study endeavors to elucidate the inhibitory effects of cordycepin on N.caninum in-fection.The cytotoxicity of cordycepin to bovine macrophages was assessed using the CCK-8 assay to ascertain a non-toxic concentration range.The impact of cordycepin on the N.caninum burden within bovine macrophages was evaluated using qPCR analysis and immunofluorescence assays.Additionally,the modulation of cytokine,interferon,and defensin expression induced by N.cani-num in the presence of cordycepin was examined through qRT-PCR analysis.The results showed that cordycepin exhibited negligible cytotoxicity to bovine macrophages at concentrations ranging from 2.812 5 to 180.000 0 μmol/L,compared to the control group.At concentrations of 5.625 0,11.250 0,and 22.500 0 μmol/L,cordycepin significantly reduced the intracellular N.caninum loads and diminished the intensity of intracellular parasite fluorescence.While N.caninum infection downregulated the expression of pro-inflammatory cytokines such as TNF-α,IL-1β,and IL-6,cordycepin treatment robustly induced their expression.Furthermore,although cordycepin treatment reduced the expression levels of IFN-α,IFN-β,and IFN-γ that were upregulated by N.caninum infection,it maintained substantial expression levels.In conclusion,cordycepin demon-strates a promising resistance against N.caninum infection,suggesting its potential as a therapeu-tic agent for the treatment of bovine neosporosis.
7.Functional mechanism of Qushi Huoxue decoction in treating non-alcoholic fatty liver disease based on network pharmacology and experimental validation
Wei-qiang TAN ; Xiao-ke RAN ; Zhao-quan PAN ; Xu-dong LIU ; Ye-huang WEI ; Xiao-qian GONG ; Rong-rong WANG
Chinese Pharmacological Bulletin 2025;41(9):1761-1768
Aim To verify the therapeutic effect of the Qushi Huoxue decoction(QSHXF)on a mouse model of non-alcoholic fatty liver disease(NAFLD)using network pharmacology and experimental approaches,to examine the changes in the PI3K-AKT-lipid metabo-lism signaling pathway,and to elucidate its molecular mechanisms.Methods The potential active ingredi-ents and targets of the QSHXF were identified using the TCMSP platform.NAFLD-related genes were sourced from the GeneCards,PharmGkb,TTD,and OMIM data-bases.The intersection of drug targets and NAFLD treatment targets was analyzed to identify the key tar-gets of the QSHXF in treating NAFLD.The STRING database and Cytoscape 3.9.1 software were utilized to construct networks linking traditional Chinese medicine active ingredients to disease targets and PPI networks,allowing for the screening of key active ingredients and core targets.GO and KEGG enrichment analyses of the intersecting targets were conducted using R version 4.2.2.The NAFLD model was established by feeding mice a methionine-choline deficient diet for a duration of five weeks.Following successful modeling,low,me-dium,and high doses of the QSHXF were administered for intervention over a period of six weeks.The efficacy was verified and the underlying mechanisms were ex-plored using methods such as HE staining,Oil Red O staining,and Western blot analysis.Results The net-work pharmacology prediction indicated that QSHXF might effectively treat NAFLD through key components such as quercetin and kaempferol,as well as core tar-gets including STAT3,AKT1,and HIF1A.KEGG en-richment analysis further suggested that QSHXF might exert its therapeutic effects on NAFLD via signaling pathways such as AGE-RAGE and PI3K-AKT.Verifi-cation through animal experiments demonstrated that QSHXF could significantly reduce hepatic steatosis and lipid droplet accumulation in NAFLD mice.Specifical-ly,it markedly decreased serum levels of TC,TG,ALT,AST,and LDL,while increasing HDL levels.Addition-ally,the treatment significantly reduced the protein ex-pression levels of p-PI3K,p-AKT,SREBP-1c,FASN,and ACC1 in the liver.Conclusions QSHXF can sig-nificantly enhance liver function,improve blood lipid levels,and alleviate hepatic steatosis in NAFLD mice,with its mechanism potentially linked to the inhibition of the PI3K-AKT-lipid metabolism signaling pathway.
8.Effects of Jiedu Yizhi Formula on neuroinflammation in a mouse model of Alzheimer's disease via PI3K/Akt/mTOR signaling pathway
Jie WANG ; Jian LIU ; Xiao-ting ZHU ; Yun-qiang LI ; Xin-yue ZHANG ; Fan LI ; Jia-li WU ; Wei LI ; Ming-quan LI
Chinese Traditional Patent Medicine 2025;47(6):1843-1852
AIM To investigate the mechanism of Jiedu Yizhi Formula on cognitive function and neuroinflammation in a mouse model of Alzheimer's disease(AD).METHODS 50 APP/PS1 double transgenic mice were randomly divided into the model group,the donepezil group,and the low-dose,moderate-dose,and high-dose Jiedu Yizhi Formula group(1.78,3.56 and 7.12 g/kg),with 10 mice in each group,in contrast to the 10 WT mice of the blank group.Following anesthesia administration and 8-week oral gavage regimen with respective drugs,all mice underwent final tissue sample collection.The mice had their learning and memory ability assessed by Morris water maze and nesting behavior scores;their pathology of brain tissue and Aβ expression observed using HE,Nissl and IHC staining;their polarization of microglia and the expression of inflammatory factors in hippocampal tissue detected by IF and ELISA;their hippocampal expression of PI3K/Akt/mTOR signaling pathway detected by RT-qPCR and Western blot.RESULTS Compared with the blank group,the model group had lower scores in total swimming distance,frequency in crossing the platform,residence time in the target quadrant,and nesting behavior scores(P<0.05,P<0.01);prolonged evasion latency(P<0.01);more disorganized arrangement of pyramidal cells,solidification and deep staining,unclear demarcation,irregular cell shapes,reduction of Nyctinidia,and increased Aβ deposition in the brain tissue(P<0.01);elevated expression of hippocampal microglia M1-type markers CD16/32 and lba-1(P<0.01);decreased levels of M2-type marker CD206(P<0.05);elevated levels of TNF-α and IL-1β(P<0.01);decreased expressions of IL-13 and IL-4(P<0.01);and decreased levels of PI3K,Akt and mTOR mRNA,and reduced p-PI3K,p-Akt and p-mTOR protein expressions(P<0.01).Compared to the model group,the donepezil group and the Jiedu Yizhi Formula groups showed statistically significant improvements in the aforementioned indexes(P<0.05,P<0.01),with the magnitude of improvement being higher in the high-dose Jiedu Yizhi Formula group.CONCLUSION Jiedu Yizhi Formula suppresses microglia Ml-type polarization while enhancing M2-type polarization via activation the PI3K/Akt/mTOR signaling pathway,which subsequently reduces inflammatory cytokine secretion.This mechanism attenuates Aβ deposition in brain tissues and ameliorates cognitive dysfunction in AD mouse models.
9.Prognostic analysis of patients with left main coronary artery disease complicated by chronic kidney disease undergoing intravascular ultrasound-guided coronary intervention therapy
Dong YI ; Chen-wei MENG ; Xun JIAN ; Dao-quan LIU ; Lin XU ; Ting LUO ; Hua YAN
Chinese Journal of Interventional Cardiology 2025;33(9):500-508
Objective To elucidate the impact of chronic kidney disease(CKD)on the clinical outcomes of patients with left main coronary artery disease(LMCAD)undergoing intravascular ultrasound(IVUS)-guided percutaneous coronary intervention(PCI).Methods This retrospective study enrolled consecutive patients with LMCAD who underwent IVUS-guided PCI at Wuhan Asia Heart Hospital between January 2017 and December 2020.Patients were stratified into CKD and non-CKD groups according to the presence of CKD.Clinical data were systematically retrieved from the electronic health record system.Demographic,clinical,and angiographic characteristics were compared between groups.The primary endpoint was major adverse cardiovascular events(MACE),defined as a composite of all-cause mortality,myocardial infarction,and ischemic stroke.Results A total of 325 LMCAD patients[mean age(62.56±9.86)years;73.54%male]were included,with 31 patients(9.54%)in the CKD group.During a median follow-up of 5 years,CKD patients exhibited significantly older age[(70.13±9.77)years vs.(61.77±9.54)years,P<0.001],higher prevalence of three-vessel disease(64.52%vs.38.10%;P=0.040)and left main bifurcation lesion(45.16%vs.37.76%,P=0.011),greater IVUS-detected calcification burden(P=0.029),and higher median SYNTAXⅡ scores[(34.10(30.30,39.25)vs.26.75(22.42,31.58),P<0.001)].The cumulative incidence of MACE was significantly higher in the CKD group compared to the non-CKD group(32.26%vs.9.18%,P<0.001).Univariate Cox regression analysis and Kaplan-Meier survival curves confirmed a 5.877-fold increased risk of MACE in CKD patients(95%CI 2.765-12.494).After adjusting for age and cardiac function,CKD remained an independent predictor of MACE(HR 3.611,95%CI 1.634-7.978).Conclusions LMCAD patients with concomitant CKD present with advanced age,impaired cardiac function,more extensive coronary disease,and severe calcification.The presence of CKD is associated with a significantly worse long-term prognosis.
10.Intelligent Recognition of Phlegm-Dampness Syndrome in Hypertension Based on Multimodal Feature Fusion
Yingfei LIU ; Wei SHI ; Quan LIU ; Ying YANG ; Xin GAO
World Science and Technology-Modernization of Traditional Chinese Medicine 2025;27(8):2183-2191
Objective To construct a diagnostic model for phlegm-dampness syndrome in hypertension based on multimodal feature fusion.Methods Clinical text information(physiological/lifestyle data,symptoms,pulse characteristics)and tongue image data were collected from 261 hypertension patients.For clinical text data,statistical analyses,including ANOVA,Mann-Whitney U test,and Chi-square test,were performed to identify significant features(P<0.05),which were incorporated into a clinical text-based diagnosis model(CTDM)using a multilayer perceptron algorithm.For tongue images,a tongue image-based diagnosis model(TIDM)was constructed based on channel attention mechanisms and residual networks.A multimodal diagnostic model(MDM)was built by fusing clinical text and tongue image features using a feature concatenation method.The diagnostic performance of each model was evaluated using five-fold cross-validation with the area under the receiver operating characteristic curve(AUC),accuracy,specificity,and sensitivity.Results Seven clinical text features,including physiological/lifestyle factors(disease duration,body mass index),symptoms(chest tightness,loss of appetite,excessive phlegm),and pulse characteristics(slippery pulse,damp pulse),were identified as risk factors for phlegm-dampness syndrome in hypertension.The AUC of the CTDM was 0.831±0.021,the AUC of the TIDM was 0.878±0.035,and the MDM achieved an AUC of 0.972±0.015.Conclusion The multimodal diagnostic model that integrates clinical text and tongue image features demonstrates high diagnostic accuracy and provides valuable guidance for AI-assisted diagnosis of phlegm-dampness syndrome in hypertension.

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