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.Research advances in the disease burden of viral hepatitis in China
Jian LI ; Fuzhen WANG ; Zhongdan CHEN ; Jinlei QI ; Ailing WANG ; Fanghui ZHAO ; Yuanyuan KONG ; Jing SUN ; Jiaqi KANG ; Zundong YIN ; Zhongfu LIU ; Jidong JIA ; Yu WANG
Journal of Clinical Hepatology 2025;41(2):221-227
Over the past three decades, China has made significant progress in the prevention and control of viral hepatitis, and the incidence rates of new-onset pediatric hepatitis B virus infections and acute viral hepatitis in the population have reduced to a relatively low level; however, there is still a heavy disease burden of chronic viral hepatitis in China, which severely affects the health status of the population. This study systematically summarizes the achievements of viral hepatitis prevention and control in China, analyzes existing problems and challenges, and proposes comprehensive prevention and control strategies and measures to eliminate viral hepatitis as a public health threat based on the national conditions of China, in order to provide a reference for related departments in China on how to achieve the action targets for eliminating viral hepatitis as a public health threat by 2030.
4.Effects of Netupitant and palonosetron hydrochloride capsules on the pharmacokinetics of albumin-bound paclitaxel in rats under different intestinal microenvironments
Yuanman QIN ; Wenhao CHU ; Jiaqi XU ; Yutong LI ; Bo LIANG ; Xueliang ZHANG ; Jian LIU
China Pharmacy 2025;36(16):1993-1999
OBJECTIVE To investigate the impact of Netupitant and palonosetron hydrochloride capsules (NEPA) on the pharmacokinetics of Paclitaxel for injection (albumin bound) (i. e. albumin-bound paclitaxel) under different intestinal microenvironment conditions. METHODS Male SD rats were divided into a normal group and a model group (n=16). Rats in the model group were intragastrically administered vancomycin solution to establish an intestinal disorder model. The next day after modeling, intestinal microbiota diversity was analyzed, and the mRNA expressions of cytochrome P450 3A1 (CYP3A1) and CYP2C11 in small intestine and liver tissues as well as those protein expressions in liver tissue were measured. Male SD rats were grouped as described above (n=16). The normal group was subdivided into the TP chemotherapy group (TP-1 group) and the TP chemotherapy+NEPA group (TP+NEPA-1 group); the model group was subdivided into the TP chemotherapy group (TP-2 group) and the TP chemotherapy+NEPA group (TP+NEPA-2 group) (n=8). Rats in the TP+NEPA-1 and TP+NEPA-2 groups received a single intragastric dose of NEPA suspension (25.8 mg/kg, calculated by netupitant). One hour later, all four groups received a single tail vein injection of albumin-bound paclitaxel and cisplatin. Blood samples were collected at different time points after the last administration. Using azithromycin as the internal standard, plasma paclitaxel concentrations were determined by liquid chromatography-tandem mass spectrometry. The main pharmacokinetic parameters were calculated using DAS 2.0 software and compared between groups. RESULTS Compared with the normal group, the model group showed significantly decreased Chao1 and Shannon indexes (P<0.05), significant alterations in microbiota composition and relative abundance, and significantly downregulated expressions of CYP3A1 mRNA in liver tissue and CYP2C11 mRNA in both small intestine and liver tissues (P<0.05). Compared with the TP-1 group, the AUC0-t, AUC0-∞, MRT0-t of paclitaxel in the TP-2 group, the cmax, AUC0-t, AUC0-∞ of paclitaxel in the TP+NEPA-1 group and TP+NEPA-2 group were significantly increased or prolonged; CL of paclitaxel in the TP-2 group, Vd and CL of paclitaxel in the TP+NEPA-1 group and the TP+NEPA-2 group were significantly decreased or shortened (P<0.05). Compared with the TP-2 group, cmax of paclitaxel in the TP+NEPA-2 group was significantly increased, and Vd and MRT0-t were significantly decreased or shortened (P<0.05). CONCLUSIONS Intestinal microbiota disorder affects the mRNA expressions of CYP3A1 and CYP2C11, leading to decreased clearance and increased systemic exposure of paclitaxel. Concomitant administration of NEPA under normal intestinal microbiota condition increases paclitaxel exposure. However, under conditions of intestinal microbiota disorder, concomitant administration of NEPA has a limited impact on paclitaxel systemic exposure.
5.Talaketides A-G,linear polyketides with prostate cancer cytotoxic activity from the mangrove sediment-derived fungus Talaromyces sp.SCSIO 41027
Chunmei CHEN ; Xueni WANG ; Wenxuan FANG ; Jiaqi LIANG ; Jian CAI ; Dehua YANG ; Xiaowei LUO ; Chenghai GAO ; Xiangxi YI ; Yonghong LIU ; Xuefeng ZHOU
Chinese Journal of Natural Medicines (English Ed.) 2024;22(11):1047-1056
Seven novel linear polyketides,talaketides A-G(1-7),were isolated from the rice media cultures of the mangrove sed-iment-derived fungus Talaromyces sp.SCSIO 41027.Among these,talaketides A-E(1-5)represented unprecedented unsaturated lin-ear polyketides with an epoxy ring structure.The structures,including absolute configurations of these compounds,were elucidated through detailed analyses of nuclear magnetic resonance(NMR)and high-resolution mass spectrometry(HR-MS)data,as well as elec-tronic custom distributors(ECD)calculations.In the cytotoxicity screening against prostate cancer cell lines,talaketide E(5)demon-strated a dose-dependent inhibitory effect on prostate cancer PC-3 cell lines,with an IC50 value of 14.44 μmol·L-1.Moreover,com-pound 5 significantly inhibited the cloning formation of PC-3 cell lines and arrested the cell cycle in S-phase,ultimately inducing ap-optosis.These findings indicate that compound 5 may serve as a promising lead compound for the development of a potential treat-ment for prostate cancer.
6.Value of preoperative vascular ultrasound parameters in predicting postoperative lower extremity deep venous thrombosis in patients with gynecological malignant tumors
Wenhui GAO ; Weiwei ZHANG ; Nirong WANG ; Jiaqi ZHANG ; Jinghua DAI ; Xinhui LI ; Jian-Feng WEI ; Shuzhen YU
Chinese Journal of Anesthesiology 2024;44(8):937-940
Objective:To evaluate the value of preoperative vascular ultrasound parameters in predicting the postoperative lower extremity deep venous thrombosis (DVT) in patients with gynecological malignant tumors.Methods:Ninety-nine patients with gynecological malignant tumors, aged>18 yr, with body mass index<30 kg/m 2, of American Society of Anesthesiologists Physical Status classification Ⅱ or Ⅲ, scheduled for elective surgery under general anesthesia, were selected. Vascular ultrasound examination was performed before surgery. The flow velocity and diameter of common femoral vein (CFV), deep femoral vein (DFV), popliteal vein (POV), and intermuscular vein (IMV) were recorded. Ultrasound examination of lower limb veins (including anterior tibial vein, posterior tibial vein, IMV, CFV, DFV, POV) were conducted at 1-8 days after surgery to determine whether a DVT occurred. The receiver operating charcateristic curve was used to evaluate the accuracy of each indicator in predicting the lower extremity DVT, and the cut-off value was determined based on the maximum principle of Jorden index. Results:The incidence of lower extremity DVT was 13.1%. The area under the curve (95% confidence interval) of the preoperative CFV flow velocity and diameter, DFV flow velocity and diameter, POV flow velocity and diameter, IMV flow velocity and diameter in predicting the lower extremity DVT were 0.769 (0.616-0.923) and 0.800 (0.644-0.950), 0.797 (0.641-0.954) and 0.771 (0.596-0.945), 0.806 (0.645-0.968) and 0.754 (0.606-0.903), 0.764 (0.615-0.914) and 0.818 (0.645-0.990), respectively ( P<0.05), and the predicted cut-off values were 27.13 cm/s and 11.93 mm, 19.31 cm/s and 10.15 mm, 16.04 cm/s and 8.79 mm, 14.39 cm/s and 8.68 mm, respectively, and the sensitivity and specificity were 90.0%, 71.4% and 90.0%, 74.3%; 90.0%, 74.3% and 90.0%, 68.6%; 90.0%, 82.9% and 90.0%, 72.9%; 90.0%, 70.0% and 80.0%, 87.1%, respectively. Conclusions:Preoperative vascular vascular ultrasound parameters can accurately predict the occurrence of postoperative lower extremity DVT in patients with gynecological malignant tumors.
7.Prognostic value of serum adenosylhomocysteinase in patients with hepatitis E related acute liver failure
Hong YAN ; Ze XIANG ; Jiaqi CHEN ; Chun JIANG ; Shuxiang LI ; Guanghua ZHAI ; Jian WU
Chinese Journal of Laboratory Medicine 2024;47(8):888-894
Objective:To investigate the prognostic value of serum adenosylhomocysteinase (AHCY) in patients with hepatitis E virus acute liver failure (HEV-ALF).Methods:From 1 January 2017 to 31 December 2022, 100 patients each with HEV-ALF and acute hepatitis E (AHE) from the First Affiliated Hospital of Medical School of Zhejiang University and Affiliated Suzhou Hospital of Nanjing Medical University were included in this case-control study. The HEV-ALF group was 58.56±11.16 years old, including 71 men. The AHE group was 56.04±14.30 years old, including 61 men. All serum samples were obtained before the patient had an acute onset and were obtained without treatment. Firstly, the serum AHCY levels in patients with HEV-ALF and AHE were analyzed by ELISA. Secondly, the serum AHCY levels in HEV-ALF patients with different organ failure and disease condition were compared. According to the number of organ failure, 100 HEV-ALF patients were divided into organ failure number=2 group ( n=58), number=3 group ( n=24) and number>3 groups ( n=18). According to the disease condition, 100 patients were divided into improvement group ( n=49), disease fluctuation group ( n=37), and deterioration group ( n=14). Thirdly, the survival times between the high serum AHCY level group ( n=50) and the low serum AHCY level group ( n=50) were compared. Finally, the independent risk factors to predict mortality using the multivariate Logistic regression analysis, and evaluated the predictive and decision-making abilities of serum AHCY levels were explored using the receiver operating characteristic (ROC) curve and decision curve analysis (DCA). Results:Serum AHCY levels in HEV-ALF patients were significantly higher than those in AHE patients [326.92 (295.37-385.84) pg/ml vs. 222.88 (188.04-246.78) pg/ml, Z=-12.217, P<0.001]. Serum AHCY levels in group 2 were significantly lower than those in group 3 [303.44 (284.40-330.15) pg/ml vs. 335.36 (306.30-385.84) pg/ml, Z=-3.353, P=0.001]. Serum AHCY level in group 3 were significantly lowerthan those in group>3 [335.36 (306.30-385.84) pg/ml vs. 549.89 (423.35-660.22) pg/ml, P<0.001]. The serum AHCY levels in the fluctuation group were lower than those in the deterioration group [322.17 (283.92-423.74) pg/ml vs. 458.26 (374.66, 593.89) pg/ml, Z=-4.016, P=0.009]. The survival time of high serum AHCY level group was significantly lower than that of low serum AHCY level group [23.11 (20.25-25.96) days vs. 29.49 (28.79-30.20) days, Z=-2.596, P<0.001]. The multivariate Logistic regression analysis showed that the levels of serum AHCY and total bilirubin were independent risk factors to predict mortality in HEV-ALF patients [AHCY, OR (95% CI): 1.008 (1.002-1.015), P=0.008; total bilirubin, OR (95% CI): 1.011 (1.005-1.018), P=0.001]. Serum AHCY level predicting the area under the curve (AUC) of 30-day mortality in HEV-ALF patients was 0.912, with a sensitivity of 90.00% and a specificity of 93.75%. DCA results demonstrated that serum AHCY level had good decision-making power for predicting 30-day mortality in HEV-ALF patients. Conclusion:Serum AHCY has an important prognostic value for HEV-ALF patients. Higher serum AHCY levels indicate the worse prognosis of HEV-ALF patients.
8.Application of metagenomic next- generation sequencing in the patients with pulmonary infection after failure of empiric therapy
Juan ZHOU ; Jiaqi YOU ; Xiaoyan YIN ; Jian′ou QIAO
Chinese Journal of Postgraduates of Medicine 2024;47(8):679-684
Objective:To explore the application of metagenomic next-generation sequencing (mNGS) in patients with pulmonary infection after failure of empirical treatment.Methods:From September 2021 to November 2023, a total of 64 patients with pulmonary infection who failed to receive empirical treatment in the Ninth People′s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were retrospectively analyzed, sputum and bronchoalveolar lavage fluid of patients were collected for traditional etiological detection and mNGS detection in alveolar lavage fluid, and the differences between traditional etiological detection methods and mNGS detection methods for pathogen detection in patients with pulmonary infection after failure of empirical treatment were compared.Results:In 64 patients with pulmonary infection after failure of empirical treatment, the positive rate of mNGS microbial detection in alveolar lavage fluid was higher than that of traditional etiological detection: 87.50%(56/64) vs. 57.81%(37/64), and the difference was statistically significant ( P<0.01). The most common microorganisms detected by mNGS were bacterial infections, the main bacteria were Pseudomonas aeruginosa, Klebsiella pneumoniae and Haemophilus paraininfluenzae. The detection rate of mNGS in mixed infection was higher than that of traditional etiological detection: 65.63%(42/64) vs. 15.63%(10/64), χ2 = 33.17, P<0.01. Drug resistance genes were detected by mNGS technique in 18 patients, and a total of 21 kinds of drug resistance genes were detected, 53.13%(34/64) of patients improved after antibiotic adjustment based on mNGS test results. Conclusions:mNGS technology can effectively improve the positive microbial detection rate of patients with pulmonary infection after failure of empirical treatment, and can assist in the evaluation of antimicrobial resistance genes and guide the adjustment of clinical antibiotics, so as to improve the therapeutic effect.
9.Impact of inhibiting aquaporin 4 expression on autophagy and apoptosis in a mouse model of cerebral ischemia-reperfusion
Shenglong MO ; Haiyan ZHU ; Zhicheng LU ; Jiaqi MO ; Xiaojing PENG ; Lina TANG ; Chengmin YANG ; Chongdong JIAN ; Jingwei SHANG
Chinese Journal of Pathophysiology 2024;40(8):1446-1454
AIM:To investigate the impact of aquaporin 4(AQP4)expression inhibition on autophagy and apoptosis in a mouse model of cerebral ischemia-reperfusion(I/R)injury,and to elucidate its underlying mechanism.METHODS:Cerebral I/R injury was induced in mice via transient middle cerebral artery occlusion(tMCAO).Totally 60 mice were randomly divided into sham group,I/R group,AQP4 inhibition group,and 3-methyladenine(3-MA)group,with 15 mice in each group.Among them,the mice in sham and I/R groups received intraperitoneal injections of normal saline,while those in AQP4 inhibition group and 3-MA group received intraperitoneal injections of AER-271(2 mg·kg-1·d-1)and AER-271+3-MA(2 mg·kg-1·d-1)for 3 d,respectively,once per day.Longa score was adopted to assess the neu-rological function,and to record changes in body weight.Cerebral infarction volume and histopathological alterations were evaluated using hematoxylin-eosin staining.Western blot analysis was performed to determine the levels of AQP4,LC3-Ⅱ,P62 and cleaved caspase-3,while the LC3-Ⅱ,P62,cleaved caspase-3 and NeuN(neuronal marker)colocalization and expression assessment were conducted with immunofluorescence.RESULTS:The mice in I/R and AQP4 inhibition groups exhibited extensive cerebral infarction,cerebral edema,and elevated Longa scores.However,in comparision to I/R group,the mice in AQP4 inhibition group showed significantly reduced cerebral infarct volume,cerebral edema vol-ume,and Longa score(P<0.05).Additionally,in contrast to sham group,the mice in I/R group displayed increased ex-pression of AQP4,LC3-Ⅱ and cleaved caspase-3(P<0.01),accompanied by decreased body weight and P62 expression(P<0.05 or P<0.01).Furthermore,compared with I/R group,the mice in both AQP4 inhibition group and 3-MA group demonstrated a decrease in the expression levels of AQP4,LC3-Ⅱ and cleaved caspase-3(P<0.05 or P<0.01),along with increased body weight and P62 expression(P<0.05 or P<0.01).Nonetheless,no significant differences were ob-served between AQP4 inhibition group and 3-MA group regarding Longa score,cerebral infarct volume,body weight,and the expression of AQP4,LC3-Ⅱ,cleaved caspase-3 and P62.CONCLUSION:Inhibition of AQP4 expression signifi-cantly reduces cerebral infarction area and nerve injury severity in tMCAO mice.Moreover,AQP4 expression inhibition decelerates autophagy and apoptosis after cerebral infarction,with the additional autophagy inhibitor showing no notable impact on the protective effect of AQP4 inhibition.
10.Review on machine learning methods in predicting the risk of depression
Minwei GONG ; Jiaqi SHI ; Jian WU
Chinese Journal of Medical Physics 2024;41(6):776-781
The articles on machine learning methods for predicting the risk of depression between 2019 and 2023 are retrieved from 6 databases(VIP,WANFANG,CNKI,Embase,PubMed and Web of Science).The review systematically summarized the algorithm characteristics,research fields,model performance,and current problems and challenges.A total of 92 articles are includes.The analysis results show that the machine learning models for predicting the risk of depression perform well,with the AUC values of the best prediction models ranging from 0.603 0 to 0.997 6.In the future,there should be a construction of multicenter prospective dynamic prediction models that use a multi-modal fusion approach to provide a more reliable basis for the clinical diagnosis of depression.

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