1.The Application Status and Trends of Data-Intelligence Technology in the Diagnosis of Lysosomal Storage Diseases
Xinyu DU ; Shengfeng WANG ; Jing XIE ; Jian GUO ; Shuyang ZHANG
JOURNAL OF RARE DISEASES 2025;4(1):112-121
To summarize the applications of data-intelligence technology in diagnosing lysosomal storage disease(LSD), analyze their opportunities and challenges in clinical practice as well as their development trends, and provide insights and recommendations for advancing digitally driven auxiliary diagnostic technologies. A comprehensive literature search was conducted across databases including PubMed, Web of Science, Embase, CNKI, Wanfang Database, and VIP. The studies focusing on the application of digital-intelligence technologies in LSD diagnosis were included. A qualitative analysis was performed, categorizing and summarizing research based on the types of digital-intelligence technologies employed, and exploring future development trends. The analysis revealed that digital-intelligence technologies, particularly in areas such as big data storage and management, data mining and analytics, machine learning, natural language processing, and computer vision, held significant potential for early screening and diagnosis of LSD. These technologies facilitated the identification of potential patients, discovery of new biomarkers, quantitative analysis of symptoms, and elucidation of gene-disease relationships, ultimately enhancing diagnostic efficiency and accuracy. Digital-intelli-gence technologies present promising prospects for advancing LSD diagnostic research and improving diagnostic precision. Future efforts should focus on developing a comprehensive, multidimensional diagnosis system and diagnostic technologies under the guidance of the DI-HEALTH theoretical framework, in the hope of paving the way for further development of digitally assisted diagnostic solutions.
2.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.
3.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.
4.Exploration of the Clinical Postdoctoral Teaching Model in the Department of Rare Diseases
Jiayuan DAI ; Jin XU ; Jing XIE ; Min SHEN ; Shuyang ZHANG
Medical Journal of Peking Union Medical College Hospital 2024;15(5):1224-1229
The clinical medicine postdoctoral training program embodies a pioneering initiative in China's pursuit of excellence in medical education in the contemporary era. The establishment of the Department of Rare Diseases at Peking Union Medical College Hospital in 2023 signifies a momentous milestone, making it the nation's inaugural clinical department exclusively dedicated to diagnosis and treatment of patients with rare diseases. Aligned with the
6.Progress and implications of value-based medical payment in the United States
Chinese Journal of Hospital Administration 2021;37(8):701-704
Value-based medicine is a healthcare delivery mode with the objective of obtaining better medical quality and health outcomes at a certain cost. The authors introduced the concept of value-based medicine, reviewed its background in the United States, described the transformation of payments from fee-for-service to value-based modes of the Centers for Medicare and Medicaid Services in the United States, and analyzed current challenges of value-based payment. Then the authors discussed the implications for China′s medical service providers to carry out value-based medical practice, in order to provide reference for China′s medical workers to participate in the construction of high-value medical system.
7.The implementation strategy and reflection of constructivism theory in biochemistry teaching
Fei JIAO ; Shuyang XIE ; Yunfei YAN ; Jinxia HU ; Ying MA ; Zhen YUE
Chinese Journal of Medical Education Research 2017;16(3):276-279
According to the current situation of biochemistry teaching and the theoretical characteristics of constructivism,the necessity and feasibility of applying constructivism to the biochemistry teaching were analyzed.Consequently,the implementation strategies of constructivism theory in the process of biochemistry teaching were introduced in detail.Through the reasonable choice of teaching content and the optimal combination of various teaching methods,it was helpful not only to realize the student-centered active construction of knowledge,but also to improve the comprehensive quality of students.At last,we performed a dialectical thought on the constructivism theory.In the concrete teaching practice,the different teaching theories should be used rationally and comprehensively based on the actual situation to improve the teaching quality of biochemistry.
8.Changes of Peripheral Leukocyte’s Telomere Length in Patients of Premature Coronary Artery Disease With Influencing Factors
Ran TIAN ; Leinan ZHANG ; Tingting ZHANG ; Jingyi LI ; Lianfeng CHEN ; Zhenyu LIU ; Zhujun SHEN ; Yong ZENG ; Hongzhi XIE ; Shuyang ZHANG
Chinese Circulation Journal 2016;31(6):541-545
Objective: To explore the changes of peripheral leukocyte’s telomere length (LTL) in patients of premature coronary artery disease (PCAD) with inlfuencing factors. Methods: Our research was conducted in 2 sets of groups, by coronary artery condition: PCAD group,n=128 including 88 patients with ACS, 40 with SCAD and Non-CAD group,n=128 subjects; by age status: the age≤30 years, 31-40 years, 41-50 years, 51-60 years had 2, 14, 65, 47 patients in each group respectively. Peripheral LTL was detected by lfuorescent quantitative analysis, the relationship between LTL and PCAD with inlfuencing factors were studied by Spearman correlation analysis. Results: In PCAD group, compared with SCAD patients, ACS patients had more male gender, higher Gensini score, lower T/S ratio and shorter LTL, allP<0.05. Compared with Non-CAD group, PCAD group had decreased T/S ratio (0.88 ± 0.86) vs (1.10 ± 0.57),P<0.05. T/S ratio was negatively related to age in both PCAD group (r=-0.275,P=0.002) and Non-CAD group (r=-0.316,P=0.000). Spearman correlation study presented that in PCAD group, LTL was negatively related to hyperlipidemia (r=-0.415,P=0.049) and diabetes (r=-0.472,P=0.036); multi linear regression analysis indicated that in PCAD group, LTL was negatively related to age (B=-0.023,P=0.038) and in Non-CAD group, LTL was negatively related to age (B=-0.027,P=0.000), smoking (B=-0.278,P=0.012), HDL-C (B=-0.297,P=0.046). Conclusion: PCAD had more male ACS patients with shorter LTL and severer coronary lesions; LTL was negatively related to hyperlipidemia and diabetes, age was an important inlfuencing factor for LTL shortening.
9.Cepharanthine induces miRNA expression in human lung adenocarcinoma LTEP-a-2 cells
Yalong ZHANG ; Hanhan ZHANG ; Yunfei YAN ; Min PANG ; Shuyang XIE ; Youjie LI
Chinese Journal of Pathophysiology 2015;(8):1412-1416
AIM:ToobservetheeffectofcepharanthineonhumanlungadenocarcinomaLTEP-a-2cellgrowth, and to explore the changes of related microRNA ( miRNA) expression in the cells .METHODS:LTEP-a-2 cells were trea-ted with cepharanthine at concentrations of 0μmol/L, 10μmol/L, 20μmol/L and 40μmol/L.The growth inhibition rate was detected by MTT assay , and the cell morphological changes were observed under light microscope .The cell apoptosis was analyzed by flow cytometry .The expression of let-7c, miR-34a and miR-34b was measured by real-time PCR.RE-SULTS:Cepharanthine inhibited the cell activity of LTEP-a-2 cells in a dose-dependent manner .With the increase in cepharanthine concentration , the pyknosis of the cells was visible under the inverted microscope .Flow cytometry analysis found that different concentrations of cepharanthine induced the increase in the apoptotic rates of LTEP -a-2 cells.The re-sults of real-time PCR showed that the cepharanthine also increased the expression of let -7c, miR-34a and miR-34b.CON-CLUSION:Cepharanthine inhibits the growth of LTEP-a-2 cells, and induces apoptosis .Cepharanthine increases the ex-pression of let-7c, miR-34a and miR-34b, indicating that these miRNAs in LTEP-a-2 cells has the function as tumor sup-pressor genes .
10.Predictors of in-hospital heart failure in patients undergoing successful primary percutaneous coronary intervention for acute myocardial infarction
Hui WANG ; Zhenyu LIU ; Shuyang ZHANG ; Zhujun SHEN ; Zhongjie FAN ; Yong ZENG ; Hongzhi XIE ; Chonghui WANG ; Xiaofeng JIN ; Quan FANG ; Wenling ZHU
Chinese Journal of Interventional Cardiology 2014;(5):288-294
Objectives We sought to determine the factors that predicted in-hospital heart failure(HF)in patients undergoing successful primary percutaneous coronary intervention(PCI)for ST-segment elevation myocardial infarction(STEMI). Methods The clinical and angiographic data were retrospectively reviewed in patients undergoing successful primary PCI for their ifrst STEMI. According to the occurrence of in-hospital HF, patients were divided into HF group and non-HF group. The incidence and predictors of in-hospital HF and its impact on prognosis were determined. Results A total of 834 patients were included, among them 94 patients (11.3%) were in the HF group and 740 patients(88.7%) were in the non-HF group. The mean age was (62.9±12.9) years and 662 patients (79.4%) were male. All-cause mortality at 30 days was signiifcantly higher in the HF group than in the non-HF group (24.5%vs. 1.5%, P<0.001). In Cox regression analysis, left anterior descending artery (LAD) as the culprit vessel (HR 2.173, 95% CI 1.12~4.212, P=0.022), ln 24 h NT-proBNP (HR 1.904, 95%CI 1.479~2.452, P<0.001), 24 h hsCRP≥11.0 mg/L (median) (HR 2.901, 95%CI 1.309~6.430, P=0.009) and baseline serum glucose (HR 1.022, 95%CI 1.000 ~ 1.044, P=0.046) were independent predictors of in-hospital HF. Receiver operator characteristic analysis identiifed 24 h NT-proBNP ≥ 1171 pg/ml (c=0.883, P < 0.001) and 24 h hsCRP ≥ 13.5 mg/L (c=0.829, P < 0.001) were the best cut-off values in discriminating in-hospital HF with a sensitivity and speciifcity of 92.5%and 76.8%for 24 h NT-proBNP, 86.0%and 77.0%for 24 h hsCRP, respectively. Even among patients with LAD as the culprit vessel, the incidence of in-hospital HF was only 0.4%in patients whose 24 h NT-proBNP was<1171 pg/ml and 24 h hsCRP was<13.5 mg/L;while the incidence of in-hospital HF was up to 60.9%in patients whose 24 h NT-proBNP≥1171 pg/ml and 24 h hsCRP≥13.5 mg/L (P<0.001). Conclusions The incidence of in-hospital HF was still high in STEMI patients even after successful primary PCI. Patients with in-hospital HF had poor prognosis. LAD as the culprit vessel, hsCRP, NT-proBNP and baseline serum glucose were independent predictors of in-hospital HF. Assessment and combined use of different serum biomarkers were effective methods to estimate the risk of in-hospital HF in STEMI patients undergoing primary PCI.

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