1.Identification of core genes of osteoarthritis by bioinformatics
Xuekun ZHU ; Heng LIU ; Hui FENG ; Yunlong GAO ; Lei WEN ; Xiaosong CAI ; Ben ZHAO ; Min ZHONG
Chinese Journal of Tissue Engineering Research 2025;29(3):637-644
BACKGROUND:At present,osteoarthritis has become a major disease affecting the quality of life of the elderly,and the therapeutic effect is poor,often focusing on preventing the disease process,and the pathogenesis of osteoarthritis is still not fully understood.Bioinformatics analysis was carried out to explore the main pathogenesis of osteoarthritis and related mechanisms of gene coding regulation. OBJECTIVE:To screen core differential genes with a major role in osteoarthritis by gene expression profiling. METHODS:Datasets were downloaded from the Gene Expression Omnibus(GEO):GSE114007,GSE117999,and GSE129147.Differential genes in the GSE114007 and GSE117999 data collections were screened using R software,performing differential genes to weighted gene co-expression network analysis.The module genes most relevant to osteoarthritis were selected to perform protein interaction analysis.Candidate core genes were selected using the cytocape software.The candidate core genes were subsequently subjected to least absolute shrinkage and selection operator regression and COX analysis to identify the core genes with a key role in osteoarthritis.The accuracy of the core genes was validated using an external dataset,GSE129147. RESULTS AND CONCLUSION:(1)A total of 477 differential genes were identified,265 differential genes associated with osteoarthritis were obtained by weighted gene co-expression network analysis,and 8 candidate core genes were identified.The least absolute shrinkage and selection operator regression analysis finally yielded a differential gene ASPM with core value that was externally validated.(2)It is concluded that abnormal gene ASPM expression screened by bioinformatics plays a key central role in osteoarthritis.
2.The Role of Neuroinflammation and Network Anomalies in Drug-Resistant Epilepsy.
Jianwei SHI ; Jing XIE ; Zesheng LI ; Xiaosong HE ; Penghu WEI ; Josemir W SANDER ; Guoguang ZHAO
Neuroscience Bulletin 2025;41(5):881-905
Epilepsy affects over 50 million people worldwide. Drug-resistant epilepsy (DRE) accounts for up to a third of these cases, and neuro-inflammation is thought to play a role in such cases. Despite being a long-debated issue in the field of DRE, the mechanisms underlying neuroinflammation have yet to be fully elucidated. The pro-inflammatory microenvironment within the brain tissue of people with DRE has been probed using single-cell multimodal transcriptomics. Evidence suggests that inflammatory cells and pro-inflammatory cytokines in the nervous system can lead to extensive biochemical changes, such as connexin hemichannel excitability and disruption of neurotransmitter homeostasis. The presence of inflammation may give rise to neuronal network abnormalities that suppress endogenous antiepileptic systems. We focus on the role of neuroinflammation and brain network anomalies in DRE from multiple perspectives to identify critical points for clinical application. We hope to provide an insightful overview to advance the quest for better DRE treatments.
Humans
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Drug Resistant Epilepsy/metabolism*
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Neuroinflammatory Diseases/immunology*
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Animals
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Brain/pathology*
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Nerve Net/pathology*
3.Effectiveness and Safety of Qiaoqi Formula (翘芪组方) for Mild Influenza: A 36-case Randomized Controlled Trial
Desong KONG ; Feng ZHAO ; Yanliang ZHANG ; Yu ZHANG ; Jinghua ZHANG ; Ye YANG ; Guoxue ZHU ; Leilei GONG ; Xiaosong GU ; Heming YU
Journal of Traditional Chinese Medicine 2024;65(7):710-715
ObjectiveTo evaluate the effectiveness and safety of Qiaoqi Formula (翘芪组方) for mild influenza. MethodsA randomized controlled study was designed, recruiting 74 patients with mild influenza, who were randomly divided into trial group and control group. The trial group took Qiaoqi Formula orally, 40ml each time, twice a day; the control group took Lianhua Qingwen Capsules (连花清瘟胶囊) orally, 1.4 g each time, three times a day. Both groups were treated for 3 consecutive days and follow-up for 4 consecutive days after treatment. The time for fever reduction including onset of fever reduction, complete fever reduction time, fever reduction rates at 24, 48 and 72 hours, improvement of influenza symptoms, total traditional Chinese medicine (TCM) symptom score, and safety indicators in two groups after treatment were recorded. ResultsSixty-five patients were ultimately included, including 36 in the trial group and 29 in the control group. Onset time of fever reduction in the trial group was (15.49±23.47) h, the complete fever reduction time (21.37±30.06)h, and the 24 h, 48 h, 72 h, fever reduction rate was 77.14%, 88.57%, 91.42% respectively. The above indicators of the control group showed as (17.58±20.38)h, (24.30±21.87)h, 61.29%, 90.32%, 96.77% respectively, with no statistically significant differences (P>0.05). On the 7th day after treatment, the total score of TCM syndromes in trial group and control group decreased compared to those before treatment (P<0.05). There was no statistically significant difference in the cure rate, significant effective rate, effective rate, and total effective rate of TCM syndromes between groups (P>0.05). On the 4th day, the lymphocyte ratio of patients in the control group was higher than before treatment, while alanine aminotransferase (ALT), aspartate aminotransferase (AST), urea, and creatinine of both groups before and after treatment were within the normal range. The main adverse reactions in both groups were mild headache and dizziness, and no serious adverse reactions observed. ConclusionThe therapeutic effect of Qiaoqi Formula in treating mild influenza is equivalent to Lianhua Qingwen Capsules, which can shorten the fever reduction time, improve clinical symptoms, and no adverse events observed during the study.
4.Analysis of the relationship between KRAS,NRAS,BRAF,HER2 gene mutations and MSI status and clinical features in colorectal cancer patients
Jie ZHAO ; Shan JIANG ; Xin LIAO ; Xiaofeng WANG ; Xueping CHEN ; Jiang WU ; Xiaosong LI ; Yifan SHEN
International Journal of Laboratory Medicine 2024;45(19):2360-2365,2371
Objective To investigate the relationship between Kirsten rat sarcoma viral oncogene homolog(KRAS),neuroblastoma viral oncogene RAS homolog(NRAS),V-raf murine sarcoma viral oncogene homo-log B(BRAF),human epidermal growth factor receptor 2(HER2)gene mutations and microsatellite instabili-ty(MSI)status and clinicopathological features in patients with colorectal cancer.Methods The clinical data of 226 patients with colorectal cancer treated in the hospital from October 2019 to March 2022 were collected.Next-generation sequencing technology was used to detect KRAS,NRAS,BRAF,HER2 gene mutations and MSI status.Immunohistochemistry was used to evaluate the mismatch repair system(MMR)status.Multiva-riate Logistic regression analysis was used to analyze the relationship between KRAS,NRAS,BRAF,HER2 gene mutations and clinicopathological features.Results Among 226 colorectal cancer patients,the mutation frequencies of KRAS,NRAS,BRAF and HER2 were 54.89%,5.3%,8.4%and 1.8%,respectively.The fre-quency of KRAS mutation in mucinous adenocarcinoma was higher than that in common adenocarcinoma(P<0.05).The risk of KRAS mutation in right colon cancer was increased(OR=2.145,P=0.012).NR AS gene mutation was more frequent in left colon and rectal cancer(P<0.05).The frequency of BRAF gene mu-tation was higher in poorly differentiated and microsatellite instability-high(MSI-H)colorectal cancer(P<0.05),and the risk of BRAF gene mutation in the right colon was increased(OR=2.844,P=0.042).HER2 gene amplification mutation showed distant metastasis(P<0.05).KRAS mutations were mutually exclusive with NRAS,BRAF and HER2 amplification mutations(P<0.05).MSI-H was more frequent in the right co-lon(P<0.05).Of the 226 cases,10 cases were defective mismatch repair(dMMR)/MSI-H,8 cases were dM-MR/microsatellite stable,and 5 cases were proficient mismatch repair/MSI-H.There was a moderate agree-ment between dMMR and MSI-H(Kappa=0.575).Conclusion KRAS,NRAS,BRAF,HER2 and MSI sta-tus are associated with clinicopathological features in patients with colorectal cancer.Combined detection of KRAS,NRAS,BRAF,HER2 and MSI can provide more accurate and effective data to guide the treatment and prognosis of patients.
5.Heart failure prediction model based on machine learning algorithms
Chuanli HU ; Xiaosong HE ; Jiang ZHAO ; Hua LI
Basic & Clinical Medicine 2024;44(6):845-852
Objective To construct a model of heart failure risk prediction based on four machine learning algo-rithms in order to support early diagnosis and intervention.Methods After reviewing the heart failure dataset pub-lished on the Kaggle community,feature selection was used to select relevant factors related to heart failure as pre-dictive indicators.Four machine learning algorithms,namely logistic regression,support vector machine,random forest,and XGBoost were selected to establish predictive models.Compared and analyzed its accuracy,precision,recall,F1 score and area under the ROC curve(AUC)to verify the performance of the model.Results The study analyzed 11 features of 918 patients with heart failure and selected 10 feature factors for modeling.After optimizing the hyper-parameters through grid search,the XGBoost model performed the best,with accuracy,precision,recall,and f1_score and AUC values were 87.5%,90.38%,89.71%,90.04%and 0.93,respectively.In addition,data analysis showed that exercise ST slope,chest pain type,and exercise induced angina were main influencing factors for heart failure.Conclusions The XG Boost model has the best predictive tool for heart failure,and machine learning algorithms may support early prevention,early diagnosis as well as control of heart failure.
6.Efficacy of arthroscopic modified anatomic glenoid reconstruction with Enden-Hybinette procedure in the treatment of recurrent anterior dislocation of shoulder combined with severe glenoid bone loss
Keyi ZHAO ; Congcong CHEN ; Gan ZHANG ; Lyu WU ; Xiaosong CHEN
Chinese Journal of Trauma 2024;40(5):446-453
Objective:To investigate the clinical efficacy of arthroscopic modified anatomic glenoid reconstruction with Enden-Hybinette procedure combined with loop plate fixation in the treatment of recurrent anterior dislocation of shoulder combined with severe glenoid bone loss.Methods:A retrospective case series study was conducted to analyze 36 patients with recurrent anterior dislocation of the shoulder combined with severe glenoid bone loss who were admitted to 901st Hospital of the Joint Logistics Support Force of PLA from January 2019 to January 2021, including 28 males and 8 females, aged 18-33 years [(29.5±3.0)years]. All the patients had injury history. The dislocation frequency range was 2-40 times [(20.5±6.5)times]. Beighton scale scores were 3-9 points [(4.0±0.8)points]. All the patients underwent anatomic reconstruction of the glenoid bone with arthroscopic modified Enden-Hybinette procedure using iliac autograft and loop plate elastic fixation. Posterior glenoid version angle, the breadth of the glenoid cavity and the A-P glenoid cavity depth were measured and osseous anatomy of the reconstructed glenoid bone was evaluated. Union of the Iliac bone block and glenoid bone loss was observed and the absorption rate of the bone block was evaluated at 6 months after surgery. The shoulder stability score, functional activity score, joint range of motion score and total Rowe score of shoulder function were used to evaluate the shoulder stability, functional activity and movement before surgery, at 3, 6 months after surgery and at the last follow-up. The incidence of complications was observed.Results:All the patients were followed up for 12-24 months [(18.8±3.5)months]. At 1, 3, 6 months after surgery and at the last follow-up, posterior glenoid version angle was (11.3±1.7)°, (10.6±1.2)°, (9.1±2.0)° and (9.2±1.9)° respectively; the breadth of the glenoid cavity was (34.2±1.3)mm, (33.2±1.0)mm, (32.2±1.0)mm and (31.3±1.1)mm respectively; the A-P glenoid cavity depth was (2.6±0.1)mm, (2.4±0.1)mm, (2.3±0.2)mm and (2.2±0.2)mm respectively, which were all significantly improved compared with those before surgery [(-5.9±1.0)°, (24.3±1.2)mm and (0.6±0.1)mm respectively] ( P<0.01), with no significant differences among those at different postoperative time points ( P>0.05). Bony union was observed in the iliac bone block and glenoid bone loss after bone grafting in all the patients at 6 months after surgery and the iliac bone block resorption rate was (20.5±4.1)%. At 3, 6 months after surgery and at the last follow-up, the shoulder stability score was (41.5±6.1)points, (43.9±6.3)points and (44.7±5.0)points respectively; the functional activity score was (26.9±2.5)points, (27.1±2.5)points and (28.6±2.3)points respectively; the joint range of motion score was (13.9±1.0)points, (14.9±1.2)points and (15.8±1.5)points respectively; the total Rowe score of shoulder function was (81.4±11.5)points, (85.8±12.3)points and (86.4±9.8)points respectively, which were significantly improved compared with those before surgery [(6.1±1.5)points, (11.9±1.5)points, (8.5±1.4)points and (27.4±7.5)points respectively] ( P<0.01), with no significant differences among those at different postoperative time points ( P>0.05). At the follow-up, no complications such as incision infection, neurological injuries, implant failure of displacement, recurrent re-dislocation of the shoulder or osteoarthritis were observed. Conclusion:Arthroscopic modified anatomic glenoid reconstruction with Enden-Hybinette procedure combined with loop plate fixation in the treatment of recurrent anterior dislocation of shoulder combined with severe glenoid bone loss has the advantages of better osseous anatomy of the reconstructed glenoid bone, better bony union, satisfactory shoulder stability, functional restoration, etc.
7.Analysis of the etiology and clinical indicators of infantile cholestasis
Qize LI ; Cheng FAN ; Xiaosong ZHAO ; Qinju LIU ; Dan QIN ; Peng WANG ; Li ZHU
Chinese Journal of Hepatology 2024;32(9):813-819
Objective:To explore the disease spectrum and corresponding clinical indicators of infantile cholestasis so as to provide a basis for the diagnosis of this type of disease at an early stage.Methods:The clinical data was collected from 203 hospitalized children diagnosed with infantile cholestasis at the Department of Gastroenterology of Maternal and Child Health Care, Guiyang City, from January 2018 to March 2023, including 130 males and 73 females. Patients general condition, personal history, and blood biochemical test indicators, including liver and coagulation function, blood ammonia, blood lipid profile, blood sugar, TORCH, thyroid function, and others, were retrospectively analyzed after admission. Cholangiography and high-throughput gene sequencing were performed in certain patients. The etiology of the enrolled cases were analyzed. Children's clinical data were compared with distinct inherited metabolic liver diseases (Group A) and biliary atresia (Group B). The statistical analysis was conducted using the t-test, Mann-Whitney test, Kruskal-Wallis test, or χ2 test, according to different data. Results:In 33 cases, infectious factors—primarily CMV infection—were the etiology of cholestasis. Forty cases had aberrant bile duct development, primarily biliary atresia, choledochal cysts, and intrahepatic bile duct dysplasia. In 26 cases, genetic metabolic factors mainly included citrin protein deficiency, sodium-taurocholate co-transporting polypeptide deficiency, and Alagille syndrome. 11 cases had drug/poisoning factors (parenteral nutrition-associated cholestasis). 19 cases had idiopathic infantile cholestasis. Three cases had other factors; however, all of them had Kawasaki disease. 71 cases had an unclear diagnosis. There was no statistically significant difference in terms of gender and age between groups A and B ( P>0.05). The alkaline phosphatase (ALP) and bile acid levels were significantly higher in Group A than Group B, with a P<0.05, while the gamma glutamyltransferase (GGT), direct bilirubin (DBil), and albumin levels were lower than those in Group B, with a P<0.05. The cytomegalovirus infection rate was higher in Group B (62.50%) than Group A (34.62%), and the difference between the two groups was statistically significant ( χ2=3.89, P<0.05). The alanine aminotransferase, aspartate aminotransferase, GGT, DBil, and albumin were significantly lower in patients with citrin protein deficiency than those in patients with biliary atresia, while ALP, bile acid, and blood ammonia were higher than those in patients with biliary atresia. Patients with sodium-taurocholate co-transporting polypeptide deficiency had higher bile acid than patients with biliary atresia, while the DBil was lower than that in patients with biliary atresia, and the difference was statistically significant ( P<0.05). Conclusion:Infantile cholestasis etiology is diverse. ALP, bile acids, GGT, DBil, and albumin levels can serve as simple indicators for early-stage differentiation between inherited metabolic liver disease and biliary atresia. The cholestasis etiology should be determined as early as possible following biliary atresia exclusion by actively completing genetic metabolic gene detection.
8.Chinese expert consensus on emergency surgery for severe trauma and infection prevention during corona virus disease 2019 epidemic (version 2023)
Yang LI ; Yuchang WANG ; Haiwen PENG ; Xijie DONG ; Guodong LIU ; Wei WANG ; Hong YAN ; Fan YANG ; Ding LIU ; Huidan JING ; Yu XIE ; Manli TANG ; Xian CHEN ; Wei GAO ; Qingshan GUO ; Zhaohui TANG ; Hao TANG ; Bingling HE ; Qingxiang MAO ; Zhen WANG ; Xiangjun BAI ; Daqing CHEN ; Haiming CHEN ; Min DAO ; Dingyuan DU ; Haoyu FENG ; Ke FENG ; Xiang GAO ; Wubing HE ; Peiyang HU ; Xi HU ; Gang HUANG ; Guangbin HUANG ; Wei JIANG ; Hongxu JIN ; Laifa KONG ; He LI ; Lianxin LI ; Xiangmin LI ; Xinzhi LI ; Yifei LI ; Zilong LI ; Huimin LIU ; Changjian LIU ; Xiaogang MA ; Chunqiu PAN ; Xiaohua PAN ; Lei PENG ; Jifu QU ; Qiangui REN ; Xiguang SANG ; Biao SHAO ; Yin SHEN ; Mingwei SUN ; Fang WANG ; Juan WANG ; Jun WANG ; Wenlou WANG ; Zhihua WANG ; Xu WU ; Renju XIAO ; Yang XIE ; Feng XU ; Xinwen YANG ; Yuetao YANG ; Yongkun YAO ; Changlin YIN ; Yigang YU ; Ke ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Gang ZHAO ; Xiaogang ZHAO ; Xiaosong ZHU ; Yan′an ZHU ; Changju ZHU ; Zhanfei LI ; Lianyang ZHANG
Chinese Journal of Trauma 2023;39(2):97-106
During coronavirus disease 2019 epidemic, the treatment of severe trauma has been impacted. The Consensus on emergency surgery and infection prevention and control for severe trauma patients with 2019 novel corona virus pneumonia was published online on February 12, 2020, providing a strong guidance for the emergency treatment of severe trauma and the self-protection of medical staffs in the early stage of the epidemic. With the Joint Prevention and Control Mechanism of the State Council renaming "novel coronavirus pneumonia" to "novel coronavirus infection" and the infection being managed with measures against class B infectious diseases since January 8, 2023, the consensus published in 2020 is no longer applicable to the emergency treatment of severe trauma in the new stage of epidemic prevention and control. In this context, led by the Chinese Traumatology Association, Chinese Trauma Surgeon Association, Trauma Medicine Branch of Chinese International Exchange and Promotive Association for Medical and Health Care, and Editorial Board of Chinese Journal of Traumatology, the Chinese expert consensus on emergency surgery for severe trauma and infection prevention during coronavirus disease 2019 epidemic ( version 2023) is formulated to ensure the effectiveness and safety in the treatment of severe trauma in the new stage. Based on the policy of the Joint Prevention and Control Mechanism of the State Council and by using evidence-based medical evidence as well as Delphi expert consultation and voting, 16 recommendations are put forward from the four aspects of the related definitions, infection prevention, preoperative assessment and preparation, emergency operation and postoperative management, hoping to provide a reference for severe trauma care in the new stage of the epidemic prevention and control.
9.Design and practice of general population cohort study in northeastern China
Hehua ZHANG ; Qing CHANG ; Qijun WU ; Yang XIA ; Shanyan GAO ; Yixiao ZHANG ; Yuan YUAN ; Jing JIANG ; Hongbin QIU ; Jing LI ; Chunming LU ; Chao JI ; Xin XU ; Donghui HUANG ; Huixu DAI ; Zhiying ZHAO ; Xing LI ; Xiaoying LI ; Xiaosong QIN ; Caigang LIU ; Xiaoyu MA ; Xinrui XU ; Da YAO ; Huixin YU ; Yuhong ZHAO
Chinese Journal of Epidemiology 2023;44(1):21-27
In 2016, a national one million general population cohort project was set up in China for the first time in "Precision Medicine Research" Key Project, National Key Research and Development Program of China, which consists of general population cohorts in seven areas in China. As one of the seven major areas in China, northeastern China has unique climate and specific dietary patterns, and population aging is serious in this area. And the burden of chronic and non-communicable diseases ranks tops in China. Therefore, it is of great significance to establish a large general population cohort in northeastern China to explore the area specific exposure factors related to pathogenesis and prognosis of chronic and non-communicable diseases, develop new prevention strategies to reduce the burden of the diseases and improve the population health in northeastern China. In July 2018, the general population cohort study in northeastern China was launched, the study includes questionnaire survey, health examination and blood, urine and stool sample collection and detection in recruited participants. By now, the cohort has covered all age groups, and the baseline data of 115 414 persons have been collected. This paper summarizes the design and practice of the general population cohort study in northeastern China to provide reference for related research in China.
10.Introduction of general population cohort study in southwestern China
Xing ZHAO ; Feng HONG ; Jianzhong YIN ; Wenge TANG ; Gang ZHANG ; Xian LIANG ; Jingzhong LI ; Chaoying CUI ; Xiaosong LI
Chinese Journal of Epidemiology 2023;44(1):40-47
In recent years, the burden of chronic and non-communicable diseases has become more serious in China, and the area specific heterogeneities are obvious. Southwestern China is a vast area with many ethnic groups and distinctive characteristics. While the local health resources are relatively limited, and the prevention and control of high-risk chronic diseases is challenging. In order to comprehensively analyze the disease distribution and potential exposure risk in populations in different ethnic groups in southwestern China, a natural population cohort study in southwestern China (multi-ethnic cohort study) was launched in 2017 with the support of the "Precision Medicine Research" Key Project, National Key Research and Development Program of China. At present, this cohort consists of 119 556 participants aged 30-79 years (18-79 years in Tibet Autonomous Region) and pregnant women in five provinces (municipality), i.e. Sichuan, Yunnan, Guizhou, Tibet, and Chongqing. A large-scale, multi-ethnic, high-quality natural population cohort with biobank has been established. The study has made some significant progress in the evaluation of the health impact of environmental and lifestyle factors in southwestern China and developed an innovative model for large cohort establishment in less developed areas. The results of this study can provide a reference for the establishment and research of large natural population cohorts in complex geographical scenarios, and serve as high-quality basic resources for China's precision medicine research and disease prevention and control decisions in areas with multi-ethnic groups.

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