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.Epidemiological status, development trends, and risk factors of disability-adjusted life years due to diabetic kidney disease: A systematic analysis of Global Burden of Disease Study 2021.
Jiaqi LI ; Keyu GUO ; Junlin QIU ; Song XUE ; Linhua PI ; Xia LI ; Gan HUANG ; Zhiguo XIE ; Zhiguang ZHOU
Chinese Medical Journal 2025;138(5):568-578
BACKGROUND:
Approximately 40% of individuals with diabetes worldwide are at risk of developing diabetic kidney disease (DKD), which is not only the leading cause of kidney failure, but also significantly increases the risk of cardiovascular disease, causing significant societal health and financial burdens. This study aimed to describe the burden of DKD and explore its cross-country epidemiological status, predict development trends, and assess its risk factors and sociodemographic transitions.
METHODS:
Based on the Global Burden of Diseases (GBD) Study 2021, data on DKD due to type 1 diabetes (DKD-T1DM) and type 2 diabetes (DKD-T2DM) were analyzed by sex, age, year, and location. Numbers and age-standardized rates were used to compare the disease burden between DKD-T1DM and DKD-T2DM among locations. Decomposition analysis was used to assess the potential drivers. Locally weighted scatter plot smoothing and Frontier analysis were used to estimate sociodemographic transitions of DKD disability-adjusted life years (DALYs).
RESULTS:
The DALYs due to DKD increased markedly from 1990 to 2021, with a 74.0% (from 2,227,518 to 3,875,628) and 173.6% (from 4,122,919 to 11,278,935) increase for DKD-T1DM and DKD-T2DM, respectively. In 2030, the estimated DALYs for DKD-T1DM surpassed 4.4 million, with that of DKD-T2DM exceeding 14.6 million. Notably, middle-sociodemographic index (SDI) quintile was responsible for the most significant DALYs. Decomposition analysis revealed that population growth and aging were major drivers for the increased DKD DALYs in most regions. Interestingly, the most pronounced effect of positive DALYs change from 1990 to 2021 was presented in high-SDI quintile, while in low-SDI quintile, DALYs for DKD-T1DM and DKD-T2DM presented a decreasing trend over the past years. Frontiers analysis revealed that there was a negative association between SDI quintiles and age-standardized DALY rates (ASDRs) in DKD-T1DM and DKD-T2DM. Countries with middle-SDI shouldered disproportionately high DKD burden. Kidney dysfunction (nearly 100.0% for DKD-T1DM and DKD-T2DM), high fasting plasma glucose (70.8% for DKD-T1DM and 87.4% for DKD-T2DM), and non-optimal temperatures (low and high, 5.0% for DKD-T1DM and 5.1% for DKD-T2DM) were common risk factors for age-standardized DALYs in T1DM-DKD and T2DM-DKD. There were other specific risk factors for DKD-T2DM such as high body mass index (38.2%), high systolic blood pressure (10.2%), dietary risks (17.8%), low physical activity (6.2%), lead exposure (1.2%), and other environmental risks.
CONCLUSIONS
DKD markedly increased and varied significantly across regions, contributing to a substantial disease burden, especially in middle-SDI countries. The rise in DKD is primarily driven by population growth, aging, and key risk factors such as high fasting plasma glucose and kidney dysfunction, with projections suggesting continued escalation of the burden by 2030.
Humans
;
Global Burden of Disease
;
Risk Factors
;
Male
;
Female
;
Disability-Adjusted Life Years
;
Diabetic Nephropathies/epidemiology*
;
Middle Aged
;
Diabetes Mellitus, Type 2/epidemiology*
;
Adult
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Diabetes Mellitus, Type 1/complications*
;
Aged
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Adolescent
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Young Adult
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Quality-Adjusted Life Years
4.Erratum: Author correction to "PRMT6 promotes tumorigenicity and cisplatin response of lung cancer through triggering 6PGD/ENO1 mediated cell metabolism" Acta Pharm Sin B 13 (2023) 157-173.
Mingming SUN ; Leilei LI ; Yujia NIU ; Yingzhi WANG ; Qi YAN ; Fei XIE ; Yaya QIAO ; Jiaqi SONG ; Huanran SUN ; Zhen LI ; Sizhen LAI ; Hongkai CHANG ; Han ZHANG ; Jiyan WANG ; Chenxin YANG ; Huifang ZHAO ; Junzhen TAN ; Yanping LI ; Shuangping LIU ; Bin LU ; Min LIU ; Guangyao KONG ; Yujun ZHAO ; Chunze ZHANG ; Shu-Hai LIN ; Cheng LUO ; Shuai ZHANG ; Changliang SHAN
Acta Pharmaceutica Sinica B 2025;15(4):2297-2299
[This corrects the article DOI: 10.1016/j.apsb.2022.05.019.].
6.Research progress about traditional Chinese medicine in the intervention of gastric cancer by regulating Th17/Treg balance
Jiaqi YIN ; Liqun LI ; Sheng XIE
China Pharmacy 2024;35(3):379-384
Gastric cancer (GC) is a common malignant tumor of the digestive tract. T helper cells 17 (Th17) and T regulatory cells (Treg) are differentiated subsets of CD4+T cells. Th17/Treg imbalance has been shown to be closely related to the progression of GC. Traditional Chinese medicine (TCM) can not only improve the survival prognosis of GC patients, but also play a role in enhancing the efficacy and reducing the toxicity of postoperative chemotherapy for GC. This paper systematically sorted out the action rules of TCM in the intervention of GC by regulating Th17/Treg balance. The results showed that the TCM compound could regulate the balance of GC Th17/Treg by invigorating the spleen and invigorating Qi, warming Yang, removing blood stasis and detoxifying. The mechanism of regulating Th17/Treg balance in the intervention of GC is mainly to inhibit the excessive differentiation of Th17 and Treg and the overexpression of transcription factors and cytokines, reverse the excessive drift of GC Th17/Treg balance to Th17 or Treg, and thus restore the immune balance of GC Th17/Treg.
7.The effect of cuproptosis related gene methylation on the prognosis of cervical cancer
Yu DING ; Jiaqi PENG ; Jinhui CHEN ; Zhiwei ZHOU ; Qian WU ; Ping LI ; Yuli LIU ; Ping TAN ; Yan HU ; Xiaobing XIE ; Dingsheng WEN
Chinese Journal of Laboratory Medicine 2024;47(4):407-412
To investigate the differences in methylation levels of cuproptosis related genes in cervical cancer and their effects on clinical prognosis.Methods:The methylation data of 310 cervical tissue specimens were acquired from public databases. The UALCAN database was used to analyze the methylation level differences of 12 cuproptosis-related genes and study their level in different stages or grades of cervical cancer. Genes with statistically significant differences were selected for prognosis analysis using the EWAS datahub. Finally, gene-enrichment analysis, pathway analysis, immune infiltration analysis, the mutation rate and tumor mutation burden (TMB) of the genes in cervical cancer were analyzed using the cBioportal database. Two independent samples rank-sum test was used for differences in methylation levels and immune cell infiltration; comparative analyses of overall survival were performed using KM survival curves and Log-rank two-sided tests. TMB analyses were performed using the Wilcoxon Test for statistical analyses; Pearson correlation analysis was used for assessment in GSEA and pathway analyses.Results:The methylationβvalue of Cyclin Dependent Kinase Inhibitor 2A (CDKN2A gene) in the cervical cancer tissues of patients was 0.075 which was significantly higher than the methylationβvalue of 0.049 in normal human tissues ( P=0.008). Dihydrolipoamide S-Acetyltransferase (DLAT gene) methylation with a β value of 0.102 was significantly higher than normal human tissue methylation with a β value of 0.08 ( P=0.002), and the methylation level β value of Lipoyltransferase 1 (LIPT1 gene) in cervical cancer tissues was 0.06,which was significantly lower than normal human tissue methylation value of 0.092 ( P=0.009). Patients with CDKN2A gene methylation levels≥0.199 had an overall survival of 14.75 years, which was lower than that of patients with methylation levels<0.199 (17.56 years) ( P=0.034).The results of gene enrichment analysis indicated that it mainly involves biological processes such as the response to type I interferon and DNA replication. The expression of CDKN2A gene is positively correlated with the number of neutrophils and dendritic cells in the tumor microenvironment( P<0.05), and negatively correlated with the number ofmacrophages( P<0.05). TMB was higher in the group of variants of the CDKN2A gene than in the group of non-variants ( P=0.019). Conclusion:CDKN2A methylation is a potential biomarker for predicting the prognosis of cervical cancer.
8.Feasibility Evaluation of using PAX1/JAM3 methylation markers as cervical cancer screening for female self-collected samples
Furong YU ; Jiezhi MA ; Xi ZHOU ; Genlin LI ; Jiaqi PENG ; Ping LI ; Fei ZENG ; Xiaobing XIE ; Weilei DONG
Chinese Journal of Laboratory Medicine 2024;47(4):419-427
Objective:To explore the application value of PAX1/JAM3 methylation detection by cervical self-collected specimen in cervical cancer screening and the management of premenopausal and postmenopausal women.Method:This study is a single center cross-sectional study. From January 2023 to November 2023, cervical self-collected and physician-collected specimens at the colposcopy clinic were detected the PAX1/JAM3 methylation (PAX1 m/JAM3 m) testing. The consistency between self-collected and physician-collected specimens for PAX1 m/JAM3 m detection were compared based on histopathology. In addition, the clinical efficacy of methylation detection with high-risk human papillomavirus (hrHPV), liquid-based cytology (LBC), and their combination for cervical cancer screening were compared in the study. Results:A total of 301 women were recruited to undergo referral colposcopy examination, and statistical analysis was conducted on 272 women with pathological and diagnostic information. Among them, 102 cases (37.5%) were diagnosed as normal cervical tissue or chronic cervicitis, 72 cases (26.4%) were cervical intraepithelial neoplasia grade 1 (CIN1), 43 cases (15.8%) were CIN2, 29 cases (10.7%) were CIN3, and 26 cases (9.6%) were cervical cancer. According to the minimum quantity formula, they were divided into a consistency cohort of 81 participants and a validation cohort of 191 participants. The consistency between cervical self-collected and physician-collected specimens for detecting PAX1 m/JAM3 m. Results from spearman correlation analysis showed a positive correlation between the self-collected and physician-collected results of PAX1 m/JAM3 m detection, and the correlation coefficient R values are 0.858 ( P<0.001) and 0.828 ( P<0.001). The sensitivity and specificity of PAX1 m/JAM3 m detection for diagnosing CIN2 or more severe lesions (CIN2+) were 77.6% [95% confidence interval ( CI) 65.3%-86.4%] and 87.2% (95% CI 80.5%-91.9%), respectively. In clinical performance comparison, the sensitivity of PAX1 m/JAM3 m combined with HPV16/18 detection, 89.7% (95% CI 79.2%-95.2%), was the same as that of hrHPV detection in CIN2+and 96.0% (95% CI 80.4%-99.3%) in CIN3+, which is higher than 92.0% (95% CI 75.0%-97.8%) of hrHPV and 82.6% (95% CI 62.9%-93.0%) of LBC or the combination of sPAX1 m/JAM3 m and LBC low-grade and higher squamous intraepithelial lesion testing [87.0% (95% CI 67.9%-95.5%)]. Conclusions:Self-collected specimens by women for detection of PAX1 and JAM3 methylation as a promising screening tool for cervical cancer has operational and clinical feasibility. The methylation test can optimize the current cervical cancer screening plan, reduce the number of referral women with false positive diagnosis to colposcopy, and is of great significance for reducing fertility protection and preventing missed diagnosis in women of childbearing age.
9.Behavioral Economics Perspectives on Communication Strategies for Vaccination Decision-Making Facilitation
Yuwei ZHANG ; Yuzhuo XIE ; Yazhou WANG ; Jiajun SHI ; Jingzhi WANG ; Jiaqi GUO ; Baijun TENG ; Mingli JIAO
Chinese Health Economics 2024;43(8):66-69
In recent years,public hesitancy to vaccinate has come to the fore and can hinder the advancement of immunization programs.It is important to increase public confidence in vaccines and to rationally and effectively promote the immunization behavior of the population.Based on behavioral economics theory,it combines the anchoring effect,loss aversion,two-systems theory,and the herd effect to explore the irrational factors and decision-making preferences behind the public's vaccination decisions,and then proposes discourse strategies for effective boosting to increase the public's confidence in vaccination.
10.Reliability and validity of assessment tools of Brief ICF Core Sets for Arthroplasty of Knee Osteoarthritis in Peri-operative Period
Boyang YU ; Yanyan YANG ; Ao MA ; Tao LI ; Xiaoxie LIU ; Zhengyang LI ; Yajing DUAN ; Jiaqi LIU ; Yuxiao XIE ; Cui WANG ; Zhen HUANG ; Lining ZHANG ; Xinyi LIU ; Zishan JIA ; Mouwang ZHOU
Chinese Journal of Rehabilitation Theory and Practice 2024;30(9):1053-1059
Objective To investigate the reliability and validity of the assessment tools of Brief ICF Core Sets for Arthroplasty of Knee Osteoarthritis in Perioperative Period(ICSAKOPP). Methods From May,2022 to April,2023,320 patients undergoing knee arthroplasty were selected in Peking University Third Hospital,China-Japan Friendship Hospital,Peking University First Hospital and Chinese PLA General Hospital.Trained assessors used Brief ICSAKOPP to evaluate all enrolled patients before arthroplasty,three days(±one day)after arthroplasty,three weeks(±one week)after arthroplasty,and three months(±one month)after ar-throplasty.Western Ontario and McMaster Universities Osteoarthritis Index(WOMAC)scores were recorded at the same time.Five professionals were asked to score all the items of Brief ICSAKOPP,and the content validity index(CVI)was caculated. Results A total of 64 cases were dropped down.CVI of all the items of the Brief ICSAKOPP were above 0.8,with a av-erage CVI of the scale of 0.938.The Cronbach's α coefficient of the Brief ICSAKOPP was 0.813.There was a moderate correlation(r=0.681,P<0.001)between the overall Brief ICSAKOPP and WOMAC scores,as well as body functional dimension score(r=0.668,P<0.001)and activities and participation dimension score(r=0.657,P<0.001). Conclusion Brief ICSAKOPP is good in content validity,internal consistency reliability and criterion validity.

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