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.Development of a nomogram-based risk prediction model for chronic obstructive pulmonary disease incidence in community-dwelling population aged 40 years and above in Shanghai
Yixuan ZHANG ; Yiling WU ; Jinxin ZANG ; Xuyan SU ; Xin YIN ; Jing LI ; Wei LUO ; Minjun YU ; Wei WANG ; Qi ZHAO ; Qin WANG ; Genming ZHAO ; Yonggen JIANG ; Na WANG
Shanghai Journal of Preventive Medicine 2025;37(8):669-675
ObjectiveTo develop a nomogram-based risk prediction model for chronic obstructive pulmonary disease (COPD) incidence among the community-dwelling population aged 40 years old and above, so as to provide targeted references for the screening and prevention of COPD. MethodsBased on a natural population cohort in suburban Shanghai, a total of 3 381 randomly selected participants aged ≥40 years underwent pulmonary function tests between July and October 2021. Cox stepwise regression analysis was used to develop overall and gender-specific risk prediction models, along with the construction of corresponding risk nomograms. Model predictive performance was evaluated using the C-indice, area under the curve (AUC) values, and Brier score. Stability was assessed through 10-fold cross-validation and sensitivity analysis. ResultsA total of 3 019 participants were included, with a median follow-up duration of 4.6 years. The COPD incidence density was 17.22 per 1 000 person-years, significantly higher in males (32.04/1 000 person-years) than that in females (7.38/1 000 person-years) (P<0.001). The overall risk prediction model included the variables such as gender, age, education level, BMI, smoking, passive smoking, and respiratory comorbidities. The male-specific model incorporated the variables such as age, BMI, respiratory comorbidities, and smoking, while the female-specific model included age, marital status, respiratory comorbidities, and pulmonary tuberculosis history. The C-indices for the overall, male-specific, and female-specific models were 0.829, 0.749, and 0.807, respectively. The 5-year AUC values were 0.785, 0.658, and 0.811, with Brier scores of 0.103, 0.176, and 0.059, respectively. Both 10-fold cross-validated C-indices and sensitivity analysis (excluding participants with a follow-up duration of <6 months) yielded C-indices were above 0.740. ConclusionThis study developed concise and practical overall and gender-specific COPD risk prediction models and corresponding nomograms. The models demonstrated robust performance in predicting COPD incidence, providing a valuable reference for identifying high-risk populations and formulating targeted screening and personalized management strategies.
4.Efficacy and safety of tislelizumab in the treatment of advanced non-small cell lung cancer:a meta-analysis
Yanxue WANG ; Xiaotong LIAN ; Ziying LIANG ; Xinyi GUO ; Qiuyi YUAN ; Jinni WANG ; Yixuan QIN ; Xiaolian DING ; Gang LIANG
China Pharmacy 2025;36(19):2454-2459
OBJECTIVE To systematically evaluate the efficacy and safety of tislelizumab in the treatment of advanced non- small cell lung cancer (NSCLC). METHODS Computerized searches were conducted in PubMed, Embase, the Cochrane Library, CNKI, Wanfang and other Chinese and English databases to collect randomized controlled trials (RCTs) on tislelizumab for advanced NSCLC. The search period was from the establishment of the databases to December 2024. After strictly screening the literature, extracting data and conducting quality evaluations in accordance with the inclusion and exclusion criteria, a meta-analysis was performed using RevMan 5.3 and Stata 16.0 software. RESULTS A total of 18 RCTs involving 2 337 patients were included, with 1 283 in the experimental group and 1 054 in the control group. The meta-analysis results showed that the objective response rate [RR=1.61, 95%CI (1.48, 1.75), P<0.000 01], disease control rate [RR=1.21, 95%CI (1.13, 1.29), P<0.000 01], progression free survival [HR=0.55, 95%CI (0.45, 0.66), P<0.000 01], and overall survival [HR=0.78, 95%CI(0.62, 0.97), P=0.03] were significantly better in the experimental group than in the control group. There was no statistically significant difference in the incidence of adverse reactions between the two groups [RR=1.00, 95%CI (0.73, 1.37), P=1.00]; among the common adverse reactions, only the incidence of liver function impairment was significantly higher in the experimental group than in the control group [RR=1.30, 95%CI (1.10, 1.54), P<0.01]. CONCLUSIONS Tislelizumab in combination with chemotherapy or targeted drugs significantly improves the efficacy in patients with advanced NSCLC without increasing the risk of adverse reactions overall. However, liver function should be closely monitored during treatment.
5.A preliminary study on compliance of supportive treatment of patients with periodon-titis after implant restoration therapy
Han ZHANG ; Yixuan QIN ; Diyuan WEI ; Jie HAN
Journal of Peking University(Health Sciences) 2024;56(1):39-44
Objective:To find out factors influencing the compliance of supportive treatment of patients with periodontitis who have received implant restoration therapy.Methods:Patients who had completed periodontal and implant restoration treatment for more than 5 years in Department of Periodontology,Pe-king University Hospital of Stomatology were subjected to inclusion between March 2022 and August 2023.A questionnaire was compiled to gather the information including patients'basic information(gen-der,age,and educational background etc.),smoking habits,general health conditions,oral hygiene habits,willingness to undertake periodontal and dental implant supportive treatment,actual fact on sup-portive treatment recorded in medical records,whether medical advices were correctly remembered,and reasons affected them to implement supportive therapy.The questionnaires were handed out to the above patients and filled during the process of follow-up treatment.Chi-square test,univariate and multivariate analysis of Logistic regression were employed to explore the correlations of these factors and the patients'compliance.Results:In the study,92 patients and questionnaires were collected and analyzed.The re-sults indicated that oral hygiene habits and whether medical advices were correctly remembered had sig-nificant correlation with compliance(P<0.05).Time constraint(47.0%)and difficulty in appointment registration(24.8%)were the top 2 reasons obstructed them to undertake supportive treatment.Al-though the vast majority of the patients indicated willingness to perform follow-ups,55.4%of them wouldn't come back until the dentist called them back.The results of our study also indicated that the patients placed significantly less importance on the health of natural teeth than implants.Conclusion:In order to improve the compliance of supportive treatment,we suggest that dentists should put more empha-sis on oral hygiene instruction,and knowledge regarding periodontitis should also be added as part of pa-tient education contents.In the early stages of treatment,the patient should develop the habit of regular follow-up checks,More attention and patience should be given to elderly patients and those with lower level of education;use language that is easy to understand and printed medical instructions to help them remember.Patients can memorize better from refined doctors'advice,reinforcing care knowledge and refining medical advices can promote better follow-up treatment results.Motivating patients based on their characteristics is critical to improving compliance.
6.Study on the TCM Medication Law of Asymptomatic Hyperuricemia Based on Data Mining
Qin WU ; Yanan ZHANG ; Yixuan LIU ; Yuzhe CAI ; Jing CHEN ; Yihui DENG
Chinese Journal of Information on Traditional Chinese Medicine 2024;31(4):31-37
Objective To explore the characteristics of TCM in the treatment of asymptomatic hyperuricemia based on data mining.Methods Clinical literature on the TCM treatment of asymptomatic hyperuricemia in CNKI,Wanfang Data,VIP and SinoMed was retrieved.After screening,the prescriptions obtained were input into Excel 2019 database,and SPSS Modeler 18.0,SPSS Statistics 26.0 and Cytoscape 3.9.1 were used for frequency analysis,association rule analysis,clustering analysis and factor analysis.Results A total of 133 articles meeting the criteria were included,and 140 prescriptions were included,involving 202 kinds of Chinese materia medica,with a total frequency of 1 387 times.22 drugs,such as Smilacis Glabrae Rhizoma,Coicis Semen,Dioscoreae Spongiosae Rhizoma,Astrctylodis Rhizoma,were frequently used in the treatment of asymptomatic hyperuricemia.The commonly used drugs were drugs for urine excretion to strain off dampness,tonics,clearing heat,promoting blood circulation and removing blood stasis.The medicinal property was mainly warm,the medicinal taste was mainly sweet,and the meridians were mainly liver,spleen,stomach and kidney meridians.21 groups of medicinal combinations were obtained by high frequency drug association rule analysis,among which the core drug pairs were Coicis Semen-Astrctylodis Rhizoma,Smilacis Glabrae Rhizoma-Dioscoreae Spongiosae Rhizoma-Coicis Semen,Coicis Semen-Astrctylodis Rhizoma-Smilacis Glabrae Rhizoma,etc.Clustering analysis obtained 5 clustering methods,and factor analysis obtained 7 common factors.Conclusion In the TCM treatment of asymptomatic hyperuricemia,the main methods are urine excretion to strain off dampness,strengthening spleen and tonifying qi,and the main drugs are Smilacis Glabrae Rhizoma,Coicis Semen,Dioscoreae Spongiosae Rhizoma,Astrctylodis Rhizoma,which can provide reference for clinical treatment of asymptomatic hyperuricemia.
7.Changes of corneal densitometry in patients with keratoconus after corneal collagen cross-linking
Shuai LI ; Yang GAO ; Limei MA ; Rui LI ; Yixuan QIN ; Caihong SUN ; Yu HAN ; Jinjin ZHANG ; Wenjuan ZHUANG
International Eye Science 2024;24(12):1954-1958
AIM: To observe the changes of corneal densitometry(CD)in patients with keratoconus after corneal cross-linking(CXL).METHODS: Retrospective study. A total of 32 patients(43 eyes)with keratoconus in Ningxia Eye Hospital from April 2020 to April 2022 were selected. Pentacam analysis system divided the cornea into three layers: anterior 120 μm, middle layer and posterior 60 μm, and divides it into five regions with diameters of 0-2, 2-6, 6-10, 10-12 mm and full diameter according to the diameter, and measures the CD in different ranges. The changes of CD were compared before operation and at 1, 3 and 6 mo after operation.RESULTS: There were differences in uncorrected visual acuity, best corrected visual acuity and intraocular pressure before and 6 mo after operation(all P<0.05), and there was no difference in corneal endothelial cells(P=0.477). CD reached its peak at 1 mo after operation, and decreased at 3 mo and 6 mo after operation, but it was still higher than that before operation. There is a significant positive correlation between CD and Kmax in the anterior layer and the whole layer(r=0.164, P=0.016; r=0.152, P=0.023).CONCLUSION: The values of CD peaked at 1 mo after CXL, then it gradually decreased, tending to become stable at 6 mo postoperatively.
8.Research on the role of c-Myc in liver cancer therapy and drug resistance using cell line and organoid models
Cheng JINGHUI ; Qin YIXUAN ; Yang HUI
Chinese Journal of Clinical Oncology 2024;51(8):385-391
To investigate the potential therapeutic effects of the myelocytomatosis oncogene(c-Myc)using pharmacogenomic data from liv-er cancer cell lines and organoids.Methods:Drug sensitivity,functional genomics,and gene expression data from cell lines were collected to assess the correlation between the expression of c-Myc and drug sensitivity.Differential expression and prognostic relevance of c-Myc in a primary liver cancer cohort were analyzed.Immunohistochemistry(IHC)staining validated c-Myc expression in liver cancer patients and cor-related it with the drug sensitivity of organoids obtained from an organoid biobank.Three c-Myc inhibitors were screened on liver cancer cell lines and organoids to test tumor-killing effects in two-and three-dimensional levels.Bioinformatics analysis was conducted to explore the role of c-Myc in targeted drug resistance.Results:Bioinformatics analyses combined with IHC staining revealed a potential regulatory role of c-Myc in the drug sensitivity of liver cancer.The expression of c-Myc in cancerous tissues was significantly higher than in para-cancerous tis-sues,and c-Myc expression was higher in patients resistant to targeted drugs than in those sensitive to targeted drugs(P<0.05).Drug screening experiments showed that c-Myc inhibitors including THZ1,ABBV-744,and JQ1 reduced cell viability in both tumor cells and tumor organoids.The combination of lenvatinib and c-Myc inhibitors exhibited significant synergistic effects(all synergy scores>1)in the SNU-739 cell line.Analysis of organoids from an organoid biobank indicated a strong association between c-Myc and stemness-mediated targeted drug resistance(R=0.87).Conclusions:c-Myc showed increased expression in patients resistant to targeted therapy,suggesting it as a novel target for drugs in liver cancer.Inhibition of c-Myc effectively killed tumors in both two-and three-dimensional ex vivo models.
9.Study on TCM Medication Law in Acute Gouty Arthritis Based on Data Mining
Qin WU ; Yanan ZHANG ; Yixuan LIU ; Yuzhe CAI ; Jing CHEN ; Jingjing YANG ; Zheng LUO ; Yihui DENG
Chinese Journal of Information on Traditional Chinese Medicine 2024;31(7):25-31
Objective To explore the characteristics of TCM prescriptions for acute gouty arthritis based on data mining methods;To provide reference for clinical treatment.Methods The clinical literature on the TCM treatment of acute gouty arthritis was retrieved from CNKI,Wanfang Data,VIP and SinoMed.The obtained formulas were input into Excel 2019 to establish a database,and SPSS Modeler 18.0,SPSS Statistics 26.0 and Cytoscape 3.9.1 were used for frequency analysis,association rule analysis,clustering analysis and factor analysis.Results A total of 290 articles meeting the requirements were included,including 295 prescriptions,involving 218 kinds of Chinese materia medica,with a total frequency of 3 573 times.24 kinds of Chinese materia medica,including Coicis Semen,Phellodendri Chinensis Cortex,Atractylodis Rhizoma,Smilacis Glabrae Rhizoma,Dioscoreae Spongiosae Rhizoma,Glycyrrhizae Radix et Rhizoma,Achyranthis Bidentatae Radix were used frequently in the treatment of acute gouty arthritis.The commonly used drugs were heat-clearing drugs,moisture-clearing drugs,blood circulation-activating drugs for removing blood stasis,and wind-dampness drugs.The property was mainly cold,the taste was mainly bitter,and the meridians were mainly liver,stomach,spleen and kidney meridians.The analysis of high-frequency drug association rules obtained 22 drug combinations,among which the core drug pairs were Phellodendri Chinensis Cortex-Atractylodis Rhizoma,Coicis Semen-Atractylodis Rhizoma-Phellodendri Chinensis Cortex.Clustering analysis obtained 4 clustering methods,and factor analysis obtained 9 common factors.Conclusion The main treatment of acute gouty arthritis by TCM is clearing heat and dampness,removing blood stasis and clearing collaterals,tonifying liver and kidney,regulating spleen and stomach,which could provide reference for the clinical treatment of acute gouty arthritis.
10.Mechanism of Xumingtang in Gu Jin Lu Yan for Treatment of Ischemic Stroke Based on HIF-1α/NLRP3 Pathway-mediated Pyroptosis
Yuzhe CAI ; Dingxiang LI ; Zheng LUO ; Yixuan LIU ; Jingjing YANG ; Qin WU ; Yanan ZHANG ; Jing CHEN ; Yihui DENG
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(17):9-17
ObjectiveTo investigate the mechanism of Xumingtang in Gu Jin Lu Yan (《古今录验》) in regulating cell pyroptosis through the hypoxia-inducible factor-1α (HIF-1α)/NOD-like receptor pyrin domain-containing protein 3 (NLRP3) pathway in ischemic stroke (IS). MethodSD rats were randomly divided into a sham operation group, a model group, low- and high-dose Xumingtang groups, and a metformin group, with 20 rats in each group. Oral administration was performed for 3 days, and tissue samples were collected. Differential messenger RNA (mRNA) was screened using high-throughput sequencing, and Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses were performed on key differentially expressed genes. The modified neurological severity score (mNSS) and 2,3,5-triphenyltetrazolium chloride (TTC) staining were used to evaluate the effect of brain infarction. Hematoxylin-eosin (HE) staining was used for pathological morphological observation of brain tissue. Enzyme-linked immunosorbent assay (ELISA) was used to compare the levels of interleukin-1β (IL-1β) and interleukin-18 (IL-18) in the ischemic cortical region. Double staining immunohistochemistry was used to detect the co-localization of HIF-1α and NLRP3. Real-time quantitative polymerase chain reaction (PCR) was performed to detect the mRNA expression of NLRP3, HIF-1α, Caspase-1 (CASP-1), and gasdermin D (GSDMD). Western blot was used to detect the protein expression of HIF-1α, NLRP3, CASP-1, and GSDMD. ResultA total of 5 705 differentially expressed genes (2 733 downregulated and 2 972 upregulated) were obtained by mRNA sequencing. After conversion to homologous genes and intersection with the pyroptosis gene set, 95 key differentially expressed pyroptosis genes were obtained. Compared with the sham operation group, the model group showed significantly increased mNSS scores, larger brain infarction areas (P<0.01), diverse neuronal morphology, disordered arrangement, widened cell gaps, significantly increased levels of IL-1β and IL-18 in the ischemic cortical region (P<0.01), enhanced co-localization fluorescence intensity, and significantly increased mRNA and protein expression levels of HIF-1α, NLRP3, CASP-1, and GSDMD (P<0.01). Compared with the model group, the high-dose Xumingtang group showed the most significant improvement in neurological function scores and brain infarction areas (P<0.01). The neuronal integrity and arrangement were more complete, and the cell gaps were narrower in all groups with drug treatment, with significantly reduced co-localization fluorescence intensity. Xumingtang could reduce the levels of IL-1β, IL-18, and the mRNA and protein expression of HIF-1α, NLRP3, CASP-1, and GSDMD (P<0.05, P<0.01), with the high-dose Xumingtang group showing the most significant effect (P<0.01). ConclusionXumingtang in Gu Jin Lu Yan can inhibit cell pyroptosis and promote neurological function recovery after IS, which may be related to the inhibition of the HIF-1α/NLRP3 pathway.

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