1.Current Research Status of Digital Technology in the Rehabilitation of Rare Neurological and Muscular Diseases
Yixuan GUO ; Yi GAO ; Yiyang YAO ; Zhuoyue QIN ; Yaofang ZHANG ; Jiaqi JING ; Jing XIE ; Jian GUO ; Shuyang ZHANG
JOURNAL OF RARE DISEASES 2025;4(1):122-131
To review the randomized controlled trials (RCTs) at home and abroad on digital intelligence (DI)-driven rehabilitation in patients of neuromuscular disease, compare the effects of DI-driven rehabilitation with traditional rehabilitation, summarize the special needs and challenges faced by patients in rehabilitation of rare neuromuscular diseases, and provide evidence for the development and quality improvement of rehabilitation for rare neuromuscular diseases. We searched PubMed, Web of Science, Embase, CNKI, VIP, and Wanfang databases for literature on neuromuscular diseases, rare diseases, digital and intelligent technologies, and rehabilitation published from the inception of the databases to June 2024. Basic and research-related information from the retrieved literature was extracted and analyzed. A total of 43 RCTs in English from 14 countries were included. The most studied diseases were Parkinson′s disease and multiple sclerosis. The application of DI-driven technologies in rehabilitation of rare neuromuscular diseases was still limited. The commonly used technologies were virtual reality (VR) games, intelligent treadmill assistance, gait training robots, hybrid assistive limb (HAL), wearable sensors and tele-rehabilitation (TR) systems. These technologies were applied in patients′ homes or rehabilitation service centers. The VR games significantly improved both static/dynamic balance functions and cognitive functions. The intelligent treadmill assistance significantly enhanced gait speed and stride length. The gait training robots significantly improved balance, gait speed and stride length of patients. The wearable exoskeletons significantly enhanced walking ability. DI-driven rehabilitation measures have great value and potential in the field of neuromuscular disease rehabilitation. Their advantages and characteristics can meet the diverse needs of rare disease patients. In the future, a hierarchical and collaborative rehabilitation service system should be established to meet the urgent needs of the rehabilitation of rare neuromuscular diseases. Combining the advantages of digitization and intelligence will provide standardized, scientific, convenient and affordable rehabilitation services to patients.
2.The Application of Digital Intelligence Technology in the Management of Non-Hospitalized Patients with Rare Diseases
Yiyang YAO ; Yi GAO ; Yixuan GUO ; Zhuoyue QIN ; Yaofang ZHANG ; Jiaqi JING ; Jing XIE ; Jian GUO ; Shuyang ZHANG
JOURNAL OF RARE DISEASES 2025;4(1):46-53
To provide references to and give suggestions to the development and optimiza-tion of Digital Intelligence (DI) technology in management of non-hospitalized patients by systematical review the application of digital technology in non-hospital settings. We designed the search strategy and used the words " rare diseases"" patient management"" non-hospitalized management"" community management"" digital intelligence"" big data"" telemedicine" as MESH terms or free words. We searched the database of PubMed, Science-Direct, Web of Science, CNKI, Wanfang and VIP from the beginning of the database to July 2024 and used computer retrieval to get the literatures on the application of DI technology in the management of patients with rare diseases in non-hospital setting. We extracted the information of the first author, country or region, publication time, research participants, DI technology application, and application effect for summary analysis. A total of 13 articles were included in this study, which were from 8 countries or regions. We found that DI technologies used were in the following forms: Internet information platform, wearable devices, telemedicine management platform and electronic database. The DI technology was used by the patients with rare diseases, patient caregivers and professional medical staffs. The application of all the forms above in different populations had good effect. The Internet information platform helped patients and their caregivers learn more about the disease and improved their self-management ability. The wearable device helped monitor the health status of patients in real time and predict the risk of emergent events. The telemedicine management platform facilitated to optimize the allocation of medical resources and strengthen doctor-patient communication. The electronic health database promoted the interconnection of data inside and outside the hospital and improved the accuracy of decision-making through data sharing. The application of DI technology in the management of patients with rare diseases in non-hospitalized settings has shown positive results. In the future, it is necessary to correct the shortcomings and to deal with the challenges in terms of accuracy, readiness, applicability, and privacy protection. Besides, the DI can be integrated into the tri-level management system of patients known as the "patient-community-hospital". It is advisable to take the advantages of digital intelligence technology to improve the efficiency and quality of management of patients in non-hospitalized settings.
3.Intermittent fasting ameliorates rheumatoid arthritis by harassing deregulated synovial fibroblasts.
Lei LI ; Jin DONG ; Yumu ZHANG ; Chen ZHAO ; Wen WEI ; Xueqin GAO ; Yao YU ; Meilin LU ; Qiyuan SUN ; Yuwei CHEN ; Xuehua JIAO ; Jie LU ; Na YUAN ; Yixuan FANG ; Jianrong WANG
Chinese Medical Journal 2025;138(23):3201-3203
4.ARID1A IDR targets EWS-FLI1 condensates and finetunes chromatin remodeling.
Jingdong XUE ; Siang LV ; Ming YU ; Yixuan PAN ; Ningzhe LI ; Xiang XU ; Qi ZHANG ; Mengyuan PENG ; Fang LIU ; Xuxu SUN ; Yimin LAO ; Yanhua YAO ; Juan SONG ; Jun WU ; Bing LI
Protein & Cell 2025;16(1):64-71
5.RRS1 regulates proliferation, migration, and invasion of HTR-8/SVneo human trophoblasts.
Yixuan WU ; Yao LI ; Jing WANG ; Qianying GUO ; Wei CHEN ; Jie QIAO ; Liying YAN ; Peng YUAN
Frontiers of Medicine 2025;19(5):831-841
Trophoblast cells serve as the foundation for placental development. We analyzed published multiomics sequencing data and found that trophoblast cells highly expressed RRS1 compared to primitive endoderm and epiblast. We used HTR-8/SVneo cells for further investigation, and Western blot and immunofluorescence staining confirmed that HTR-8/SVneo cells highly expressed RRS1. RRS1 was successfully knocked down in HTR-8/SVneo cells using siRNA. Using IncuCyte S3 live-cell analysis system based on continuous live-cell imaging and real-time data, we observed that proliferation, migration, and invasion abilities were all significantly decreased in RRS1-knockdown cells. RNA-seq revealed that knockdown of RRS1 affected the gene transcription, and upregulated pathways in extracellular matrix organization, DNA damage response, and intrinsic apoptotic signaling, downregulated pathways in embryo implantation, trophoblast cell migration, and wound healing. Differentially expressed genes were enriched in diseases related to placental development. Consistent with these findings, human chorionic villus samples collected from spontaneous abortion cases exhibited significantly reduced RRS1 expression compared to normal controls. Our results highlight the functional importance of RRS1 in human trophoblasts and suggest that its deficiency contributes to early pregnancy loss.
Humans
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Trophoblasts/physiology*
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Cell Movement/genetics*
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Cell Proliferation/genetics*
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Female
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Pregnancy
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Abortion, Spontaneous/metabolism*
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Cell Line
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Placentation/genetics*
6.The association between vitamin intake and the progression of metabolic dysfunction-associated fatty liver disease
Renling YAO ; Yixuan ZHU ; Rui HUANG ; Jie LI
The Journal of Practical Medicine 2024;40(6):820-826
Objective There is a Few studies explored the association between vitamin intake and meta-bolic dysfunction-associated fatty liver disease(MAFLD),while the existing results were still contradictory.This study aimed to investigate the association between dietary vitamins and all-cause mortality as well as fibrosis risk in patients with MAFLD.Methods The data were extracted from the third National Health and Nutrition Examination Surveys 1988-1994.Dietary vitamins was assessed using a 24 h diet recall,including vitamin A,vitamin B6,vitamin B12,vitamin C,vitamin D,thiamin,riboflavin,folic acid and α-tocopherol.The non-alcoholic fatty liver disease fibrosis score(NFS)<-1.455 was considered as non-advanced fibrosis,while NFS≥-1.455 was considered as advanced fibrosis.Results A total of 3844 MAFLD participants were included in this study.The median time of follow-up was 310 months.1739 participants(45.3%)were deceased during the follow-up.The intake of thiamin,riboflavin,α-tocopherol,VB6,and VB12 were significantly higher in patients with NFS-determined non-advanced fibrosis(P<0.05).After adjusting,a significantly lower risk of fibrosis was found in patients with the highest quartile(>11.5 mg/d)of α-tocopherol intake compared to the lowest intake group(P = 0.031).Compared to the lowest quartile group,the risk of mortality was reduced by 0.34 folds in the group consuming the highest quartile amount(>130 mg/d)of VC(HRs:0.66,95%CI:0.51~0.85,P = 0.001).Conclusions More α-tocopherol intake reduced fibrosis grade in MAFLD patients.VC intake may reduce all-cause mortality in patients with MAFLD.
7.Overview of design and construction of hypertensive disorders of a pregnancy-cohort in Shenzhen
Yixuan CHEN ; Linlin WU ; Xiaoxia WU ; Liying YANG ; Jiaqi XU ; Ling WANG ; Zhaoyang JIANG ; Jingna YAO ; Danni YANG ; Ning SUN ; Jing ZHANG ; Yiwei ZHANG ; Ruowang HU ; Ying LIN ; Kui HUANG ; Bin LI ; Jianmin NIU
Chinese Journal of Epidemiology 2023;44(12):1858-1863
Hypertensive disorder of pregnancy (HDP) involves two major public health issues: mother-infant safety and prevention and controlling major chronic disease. HDP poses a serious threat to maternal and neonatal safety, and it is one of the leading causes of maternal and perinatal morbidity and mortality worldwide, as well as an important risk factor for long-term cardiovascular disease (CVD). In order to explore effective strategies to prevent and control the source of CVD and reduce its risk, we have established a cohort of HDPs in Shenzhen for the primordial prevention of CVD. The construction of the HDP cohort has already achieved preliminary progress till now. A total of 2 239 HDP women have been recruited in the HDP cohort. We have established a cohort data management platform and Biobank. The follow-up and assessment of postpartum cardiovascular metabolic risk in this cohort has also been launched. Our efforts will help explore the pathophysiological mechanism of HDP, especially the pathogenesis and precision phenotyping, prediction, and prevention of pre-eclampsia, which, therefore, may reduce the risk of adverse pregnancy outcomes, and provide a bridge to linking HDP and maternal-neonatal cardiovascular, metabolic risk to promote the cardiovascular health of mothers and their infants.
8.Prognostic Perspectives of STING and PD-L1 Expression and Correlation with the Prognosis of Epstein-Barr Virus-Associated Gastric Cancers
Qi SUN ; Yao FU ; Xiaobing CHEN ; Lin LI ; Hongyan WU ; Yixuan LIU ; Haojun XU ; Guoren ZHOU ; Xiangshan FAN ; Hongping XIA
Gut and Liver 2022;16(6):875-891
Background/Aims:
Epstein-Barr virus-associated gastric cancers (EBVaGCs) have unique molecular and clinicopathological characteristics. The cyclic GMP-AMP synthase-stimulator of interferon genes (STING) pathway is recently recognized as the critical innate immunity against pathogens and tumors. STING is also a master regulator in the cancer-immunity cycle and targeting STING could synergize with existing immune-checkpoint therapies. However, the role of STING in GC, especially in EBVaGC, and its correlation with programmed death-ligand 1 (PD-L1) remain largely unclear.
Methods:
We collected 78 cases of EBVaGCs and 210 cases of EBV-negative GC (EBVnGC) from a total of 1,443 cases of GC analyzed by EBV-encoded small RNA in situ hybridization. We investigated STING and PD-L1 expression and their concomitant prognostic value in EBVaGCs and EBVnGCs using tissue microarray and immunohistochemistry. The effects of STING and PD-L1 expression on the overall survival of patients with EBVaGC or EBVnGC were assessed by univariate and multivariate analysis.
Results:
We found that both STING and PD-L1 exhibited significantly higher expression in the EBVaGCs than that in the EBVnGCs. The expression of STING was positively correlated with that of PD-L1 in EBVaGCs. Simultaneous negative expression of STING and PD-L1, and positive expression of STING were independent prognostic risk factors for EBVaGC and EBVnGC, respectively.
Conclusions
This is the first prognostic retrospective study of STING and PD-L1 expression and the prognosis among EBVaGC and EBVnGC. The expression and prognostic value of STING and PD-L1 are different in the two types of GCs. STING and PD-L1 are promising prognostic biomarkers and therapeutic targets for EBVaGC and EBVnGC.
9.Tryptophan 2,3-dioxygenase 2 controls M2 macrophages polarization to promote esophageal squamous cell carcinoma progression
Yumiao ZHAO ; Jiaxin SUN ; Yin LI ; Xiuman ZHOU ; Wenjie ZHAI ; Yahong WU ; Guanyu CHEN ; Shanshan GOU ; Xinghua SUI ; Wenshan ZHAO ; Lu QIU ; Yongjie YAO ; Yixuan SUN ; Chunxia CHEN ; Yuanming QI ; Yanfeng GAO
Acta Pharmaceutica Sinica B 2021;11(9):2835-2849
Tryptophan 2,3-dioxygnease 2 (TDO2) is specific for metabolizing tryptophan to kynurenine (KYN), which plays a critical role in mediating immune escape of cancer. Although accumulating evidence demonstrates that TDO2 overexpression is implicated in the development and progression of multiple cancers, its tumor-promoting role in esophageal squamous cell carcinoma (ESCC) remains unclear. Here, we observed that TDO2 was overexpressed in ESCC tissues and correlated significantly with lymph node metastasis, advanced clinical stage, and unfavorable prognosis. Functional experiments showed that TDO2 promoted tumor cell proliferation, migration, and colony formation, which could be prevented by inhibition of TDO2 and aryl hydrocarbon receptor (AHR). Further experimentation demonstrated that TDO2 could promote the tumor growth of KYSE150 tumor-bearing model, tumor burden of C57BL/6 mice with ESCC induced by 4-NQO, enhance the expression of phosphorylated AKT, with subsequent phosphorylation of GSK3
10.Predictive value of surrogate indexes of insulin resistance in evaluating non-alcoholic fatty liver disease and advanced liver fibrosis in patients with type 2 diabetes mellitus
Yan YANG ; Yixuan YAO ; Xiutao HONG ; Ziming MAO ; Fengling CHEN
Chinese Journal of Endocrinology and Metabolism 2021;37(4):281-287
Objective:To investigate the association of surrogate indexes of insulin resistance with the risk of nonalcoholic fatty liver disease(NAFLD)and advanced liver fibrosis in newly diagnosed patients with type 2 mellitus.Methods:A total of 429 newly diagnosed type 2 diabetic patients hospitalized in the Department of Endocrinology and Metabolism, Shanghai Ninth People′s Hospital, Shanghai Jiao Tong University School of Medicine from June 2018 to June 2020 were included. The patients were divided into NAFLD group( n=263)and non-NAFLD group( n=166)according to the results of abdominal ultrasound, NAFLD patients were divided into advanced liver fibrosis group( n=33)and non-advanced liver fibrosis group( n=230)according to the NAFLD fibrosis score(NFS). The correlation of the triglyceride/high density lipoprotein-cholesterol ratio(TG/HDL-C), triglyceride glucose index(TyG), visceral adiposity index(VAI), triglyceride glucose-body mass index(TyG-BMI), homeostasis model assessment of insulin resistance index(HOMA-IR)with NAFLD and the occurrence of advanced liver fibrosis were analyzed. Results:The prevalence of NAFLD in newly diagnosed type 2 diabetic patients was 61.3%, and the prevalence of advanced liver fibrosis was 12.5%. After adjusting the potential confounders, multivariate logistic regression analysis showed that TG/HDL-C, TyG, VAI, TyG-BMI, and HOMA-IR were independently and positively correlated with NAFLD, and only TyG-BMI was independently and positively correlated with advanced liver fibrosis( OR=1.021, 95% CI 1.009-1.034, P<0.01). The receiver operating characteristic analysis showed that the area under the curue of TyG-BMI was more than those of TG/HDL-C, TyG, VAI and HOMA-IR for predicting the occurrence of NAFLD in newly diagnosed type 2 diabetic patients(0.83 vs 0.73, 0.74, 0.73, 0.67, P<0.01), but had no predictive value for advanced liver fibrosis. Conclusion:TyG-BMI is superior to TG/HDL-C, TyG, VAI and HOMA-IR for predicting the occurrence of NAFLD in newly diagnosed type 2 diabetic patients, and it is also an independent risk factor for advanced liver fibrosis.

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