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.Accuracy of modified implant template of assisted implantation in missing second molars
Yuhang ZHANG ; Yuning ZENG ; Jindi ZENG ; Yixuan LU ; Hui YE ; Jianxin JI
Chinese Journal of Tissue Engineering Research 2025;29(4):738-744
BACKGROUND:Computer-assisted implant surgery can improve implantation accuracy,but the use of implant template in the posterior tooth area is limited for patients with small opening and small interocclusal distance.Therefore,the digital guide has been improved. OBJECTIVE:To study the effect of modified implant template on the accuracy of assisted implantation in missing second molars. METHODS:From July 2020 to July 2023,40 patients who received digital guide plate implantation or free hand implantation to repair missing second molars were selected from First Affiliated Hospital of Guangzhou Medical University.According to the coin toss method,patients were randomly divided into a trial group(n=22;modified digital guide assisted implantation)and a control group(n=18;free hand implantation).The data of neck deviation,tip deviation,depth deviation,and angle deviation were compared between groups for preoperative and postoperative cone beam CT overlap analysis.One week after the operation,the patients'satisfaction with the operation was assessed by visual analog scale score. RESULTS AND CONCLUSION:(1)The trial group included 25 implants(12 in the upper jaw and 13 in the lower jaw);the control group included 23 implants(8 in the upper jaw and 15 in the lower jaw).The neck deviation,tip deviation,depth deviation,and angle deviation of the trial group were all smaller than those of the control group(P<0.05,P<0.001).There was no significant difference in accuracy between the maxillary and mandibular implant site in the trial group(P>0.05).(2)There was no significant difference in satisfaction with the operation between the two groups(P>0.05).(3)The results showed that improving the digital guide plate for assisted implantation for missing second molar can improve surgical accuracy and is suitable for patients with small opening and small interocclusal distance in the posterior tooth area.
4.Inhibitory effect of pterostilbene on high glucose-mediated endothelial-to-mesenchymal transition in human retinal microvascular endothelial cells
Xiaolan* WANG ; Hanyi* YANG ; Yimeng ZHANG ; Sida LIU ; Chengming CHEN ; Tingke XIE ; Yixuan CHEN ; Jiayi NING ; Jing HAN
International Eye Science 2025;25(3):359-364
AIM: To investigate the potential inhibitory effect of pterostilbene on the endothelial-to-mesenchymal transition(EndMT)induced by high glucose conditions in human retinal microvascular endothelial cells(HRMECs).METHODS: The optimal concentration of pterostilbene for treating HRMECs was determined using the CCK-8 assay, with 12.5 and 25 μmol/L concentrations selected for subsequent experiments. Four experimental groups were established: control group, high glucose group, high glucose combined with 12.5 μmol/L pterostilbene treatment group, and high glucose combined with 25 μmol/L pterostilbene treatment group. The expression levels of HDAC7 and EndMT-associated markers were detected via Western blot analysis. Cell migration ability was assessed using Transwell migration assays and scratch wound healing tests, while vasculogenic capability was evaluated through tube formation assays.RESULTS: The CCK-8 assay revealed that pterostilbene at a concentration of 22.07 μmol/L inhibited 50% of cell viability in HRMECs. Western blot analysis demonstrated that compared with the control group, the expression levels of HDAC7, ZEB1, Vimentin, and Snail were significantly upregulated in HRMECs cultured in high glucose(all P<0.01), while the expressions of VE-cadherin and CD31 were significantly reduced(all P<0.01). Compared to the high glucose group, the treatment with 12.5 and 25 μmol/L pterostilbene significantly reduced the expression of HDAC7, ZEB1, Vimentin, and Snail under high glucose conditions(all P<0.01). Notably, 25 μmol/L pterostilbene enhanced the expression of VE-cadherin and CD31(all P<0.01). Scratch wound healing tests revealed that HRMECs treated with high glucose exhibited a significantly increased cell migration rate compared to the control group(P<0.05), while the application of 25 μmol/L pterostilbene significantly suppressed HRMECs migration under high glucose conditions(P<0.01). Transwell migration assays demonstrated that the cell migration rate in the high glucose group was significantly higher than that in the control group(P<0.01), with cell migration rate markedly reduced following treatment with both of 12.5 and 25 μmol/L pterostilbene(all P<0.01). The tube formation assay revealed that the ability of HRMECs to form tubular structures was significantly enhanced under high glucose conditions(P<0.01), and both 12.5 and 25 μmol/L of pterostilbene effectively inhibited this effect(all P<0.01).CONCLUSION: Pterostilbene can inhibit HDAC7 expression, suppress EndMT-mediated migration of HRMECs, and impair tube formation under high-glucose conditions.
5.Inhibitory effect of pterostilbene on high glucose-mediated endothelial-to-mesenchymal transition in human retinal microvascular endothelial cells
Xiaolan* WANG ; Hanyi* YANG ; Yimeng ZHANG ; Sida LIU ; Chengming CHEN ; Tingke XIE ; Yixuan CHEN ; Jiayi NING ; Jing HAN
International Eye Science 2025;25(3):359-364
AIM: To investigate the potential inhibitory effect of pterostilbene on the endothelial-to-mesenchymal transition(EndMT)induced by high glucose conditions in human retinal microvascular endothelial cells(HRMECs).METHODS: The optimal concentration of pterostilbene for treating HRMECs was determined using the CCK-8 assay, with 12.5 and 25 μmol/L concentrations selected for subsequent experiments. Four experimental groups were established: control group, high glucose group, high glucose combined with 12.5 μmol/L pterostilbene treatment group, and high glucose combined with 25 μmol/L pterostilbene treatment group. The expression levels of HDAC7 and EndMT-associated markers were detected via Western blot analysis. Cell migration ability was assessed using Transwell migration assays and scratch wound healing tests, while vasculogenic capability was evaluated through tube formation assays.RESULTS: The CCK-8 assay revealed that pterostilbene at a concentration of 22.07 μmol/L inhibited 50% of cell viability in HRMECs. Western blot analysis demonstrated that compared with the control group, the expression levels of HDAC7, ZEB1, Vimentin, and Snail were significantly upregulated in HRMECs cultured in high glucose(all P<0.01), while the expressions of VE-cadherin and CD31 were significantly reduced(all P<0.01). Compared to the high glucose group, the treatment with 12.5 and 25 μmol/L pterostilbene significantly reduced the expression of HDAC7, ZEB1, Vimentin, and Snail under high glucose conditions(all P<0.01). Notably, 25 μmol/L pterostilbene enhanced the expression of VE-cadherin and CD31(all P<0.01). Scratch wound healing tests revealed that HRMECs treated with high glucose exhibited a significantly increased cell migration rate compared to the control group(P<0.05), while the application of 25 μmol/L pterostilbene significantly suppressed HRMECs migration under high glucose conditions(P<0.01). Transwell migration assays demonstrated that the cell migration rate in the high glucose group was significantly higher than that in the control group(P<0.01), with cell migration rate markedly reduced following treatment with both of 12.5 and 25 μmol/L pterostilbene(all P<0.01). The tube formation assay revealed that the ability of HRMECs to form tubular structures was significantly enhanced under high glucose conditions(P<0.01), and both 12.5 and 25 μmol/L of pterostilbene effectively inhibited this effect(all P<0.01).CONCLUSION: Pterostilbene can inhibit HDAC7 expression, suppress EndMT-mediated migration of HRMECs, and impair tube formation under high-glucose conditions.
6.Effect of miR-130a-3p targeting PPAR-γ on epithelial-mesenchymal transition in silica-induced pulmonary fibrosis
Xiaohui HAO ; Qian LI ; Yixuan JIN ; Qinxin ZHANG ; Yudi WANG ; Fang YANG
Journal of Environmental and Occupational Medicine 2025;42(2):188-195
Background At present, the treatment of silicosis is still limited, and no method is available to cure the disease. miRNAs are involved in the process of fibrosis at the transcriptional level by directly degrading target gene mRNA or inhibiting its translation. However, how miR-130a-3p regulates silicosis fibrosis has not been fully elucidated yet. Objective To investigate whether miR-130a-3p promotes epithelial-mesenchymal transition (EMT) by inhibiting peroxisome proliferators-activated receptors gamma (PPAR-γ), thereby pro-moting the process of silicotic fibrosis. To identify effective new targets for the treatment of silicotic fibrosis. Methods (1) Animal experiments: C57BL/6J mice were intratracheally injected with a one-time dose of 10 mg silica suspension (dissolved in 100 μL saline) as positive lung exposure. A silicosis model group was established 28 d after the exposure. A control group was injected with the same amount of normal saline into the trachea. Hematoxylin-eosin staining and Sirius red staining were used to observe the pathological changes and collagen deposition in lung tissues respectively. Realtime fluorescence-based quantitative polymerase chain reaction (RT-qPCR) was used to assay the expression of miR-130a-3p and PPAR-γ mRNA in lung tissues. Western blotting was used to detect the protein expression of PPAR-γ, transforming growth factor (TGF)-β1, E-cadherin, α-smooth muscle actin (α-SMA), and Collagen Ⅰ in lung tissues. (2) Cells experiments: Mouse lung epithelial cells (MLE-12) were induced with 5 µg·L−1 TGF-β1 for different time (0, 12, 24, 48 h). RT-qPCR was used to detect the expression of miR-130a-3p and PPAR-γ mRNA in cells. The binding relationship between miR-130a-3p and PPAR-γ mRNA was verified by dual luciferase reporter gene assay. MLE-12 cells were stimulated by 5 µg·L−1 TGF-β1 after transfection of miR-130a-3p inhibitor, and Western blotting was used to measure the protein expression of PPAR-γ, E-cadherin, and α-SMA in the TGF-β1-induced cells. Results In the silicosis model group, the alveolar septum was widened and the pulmonary nodules were formed. The Sirius red staining collagen deposition in pulmonary nodules indicated that a silicosis fibrosis model was successfully established. The expressions of TGF-β1, α-SMA, and Collagen Ⅰ proteins were increased, and the expressions of E-cadherin and PPAR-γ proteins were decreased in lung tissues of the silicosis group, compared with the control group (P<0.05 or P<0.01). The expression of miR-130a-3p was increased and the expression of PPAR-γ mRNA was decreased in lung tissues of the silicosis model (P<0.01). The expression of miR-130a-3p was significantly increased, while the expression of PPAR-γ mRNA was decreased in the TGF-β1 induced MLE-12 cells (P<0.05 or P<0.01). The dual luciferase reporter assay showed a direct relationship between miR-130a-3p and PPAR-γ mRNA in MLE-12 cells. The transfection of miR-130a-3p inhibitor in the TGF-β1 induced MLE-12 cells inhibited the decrease of PPAR-γ and E-cadherin proteins, and the increase of α-SMA protein in the MLE-12 cells induced by TGF-β1 (P<0.05 or P<0.01). Conclusion miR-130a-3p promotes the development of silicosis fibrosis by targeting PPAR-γ to increase pulmonary EMT.
7.Textual Research on Key Information and Modern Clinical Application of Classical Famous Formula Liumotang
Xinyu ZHANG ; Chong LI ; Yixuan HU ; Luming LIANG ; Ye ZHAO ; Xiaoting LU ; Yu WANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(3):201-212
Liumotang comes from the Yuan dynasty's Effective Prescription Handed Down for Generations of Physicians. It is composed of six medicinal materials: Arecae Semen, Aquilariae Lignum Resinatum, Aucklandiae Radix, Linderae Radix, Rhei Radix et Rhizoma, and Aurantii Fructus. It is a classical formula for treating abdominal pain due to Qi stagnation and constipation accompanied by heat. This study systematically collated the records of Liumotang in ancient medical books and modern clinical literature and conducted in-depth analysis and textual research on its formula source, main diseases, composition, dosage, medical books, container capacity, processing, preparation method, usage, drug basis, formula meaning, and other key information, so as to provide a powerful reference for the development and clinical application of compound preparations of the classical formula Liumotang. The results show that Liumotang was first seen in Effective Prescription Handed Down for Generations of Physicians, and many medical books of the past dynasties have imitated this. In terms of drug basis, the dried and mature seeds of the palm plant Areca catechu, resin-containing wood of the Daphneaceae plant Aquilaria sinensis, the dried roots of the Asteraceae plant woody Aucklandia lappa, the dried tuber root of the Lauraceae plant Lindera aggregata, the dried roots and rhizomes of the knotweed plant, R. palmatum, R.tangutikum, and R. officinale, and the dried and unripe fruits of the citrus genus C. aurantium and its cultivated varieties from the family Rutaceae were selected. In terms of dosage, through the textual research on bowls in the Ming and Qing dynasties, combined with the conversion of medicines and bowl capacity in the Qing dynasty, it was estimated that the dosage of each drug in the Yuan dynasty was 10.86 g. In the Ming and Qing dynasties, the dosage of drugs was mostly equal, but the dosage of drugs was somewhat different. In terms of processing, preparation method, and usage, in the medical books of the past dynasties, the processing of drugs has slightly changed, but raw drugs are used in all preparations. The preparation method and usage did not change much during the Yuan, Ming, and Qing dynasties, except for certain differences in dosage. In terms of syndrome, Liumotang was first used to treat abdominal pain due to Qi stagnation and constipation accompanied by heat. Medical books of the past dynasties often omit the symptoms of heat. In modern clinical practice, Liumotang is mainly used in the digestive system and urinary system diseases and is mostly used to treat constipation-predominant irritable bowel syndrome, biliary reflux gastritis, functional constipation, slow transit constipation, and other diseases, with no adverse reactions found yet. The above results provide a reliable scientific basis for the development and clinical treatment of Liumotang compound preparations.
8.Knowledge, attitudes and practice regarding three major infectious diseases among freshmen in Jiangsu Province from 2019 to 2022
ZHANG Xiaolin, DU Guoping, CHEN Xiaoyan, LI Xiaoshan, WEI Yixuan, LI Yanhui, TAN Bingxin, YE Yuxiu
Chinese Journal of School Health 2025;46(2):205-209
Objective:
To understand the changing trends and related factors of knowledge, attitude and practice (KAP) regarding the three major infectious diseases (acquired immunodeficiency syndrome, tuberculosis, hepatitis B) among freshmen in Jiangsu from 2019 to 2022, so as to provide a reference basis for the health education of infectious diseases in schools.
Methods:
From 2019 to 2022, a total of 33 944 freshmen from 20 universities in Jiangsu Province were randomly selected for four consecutive years to investigate their KAP levels online through self designed questionnaires on three major infectious diseases. The multiple linear regression model was used to analyze the changing trends of students KAP levels of the three major infectious diseases, and to explore the influencing factors of KAP.
Results:
From 2019 to 2022, the knowledge scores(18.0±3.1,18.4±3.2,18.7±3.2,18.8±3.2), related to the three major infectious diseases showed an upward trend ( F=436.50, P <0.01), and the positive attitude reporting rates were 81.77%, 81.46%, 82.68% and 81.74%, respectively. The reporting rates of positive practice were 80.11%, 79.25%, 79.08 % and 79.04%, respectively. Multiple linear regression showed that school type, parental education level, mother s occupation, average income per person in family and living arrangements during high school all had an impact on the knowledge ( β = -1.510 -0.559), attitudes ( β =-0.043-0.065) and practice ( β =-0.028-0.027) of the three major infectious diseases ( P < 0.05 ). The family residence areas only affected the reporting rate of positive attitude scores ( β =0.002-0.065), and whether only children or not affected the reporting rate of positive practice scores ( β =0.009)( P <0.05). The knowledge score showed an upward trend ( β= 0.297, P <0.01), the positive attitude reporting rate showed no statistically significant change ( β=0.001, P =0.22), and the positive practice reporting rate showed a downward trend ( β=-0.005, P <0.01).
Conclusions
Freshman in Jiangsu Province from 2019 to 2022 have shown a separation in KAP scores regarding the three major infectious diseases. Targeted measures should be taken to improve their health practice level.
9.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.
10.Current Status and Prospects of Gene Therapy for Primary Ciliary Dyskinesia
Wanqing LU ; Yixuan LI ; Miao HE ; Xinlun TIAN ; Yaping LIU
JOURNAL OF RARE DISEASES 2025;4(3):377-383
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease characterized by structural or functional abnormalities of motile cilia. It often presents clinically with recurrent respiratory infections, situs inversus, hydrocephalus, and infertility. Currently, there is no clinical treatment to directly restore ciliary motility in PCD patients.In recent years, researchers have explored gene therapy methods such as gene replacement, gene editing, and RNA replacement


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