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.Digital-Intellectualized Upgrade and Clinical Application of National Rare Diseases Registry System of China
Jian GUO ; Ye JIN ; Peng LIU ; Dingding ZHANG ; Limeng CHEN ; Yicheng ZHU ; Shuyang ZHANG
JOURNAL OF RARE DISEASES 2025;4(1):54-60
Since its establishment in 2016, the National Rare Diseases Registry System of China (NRDRS) has accumulated valuable case data and bio-specimen for basic and clinical research on rare diseases in China. However, the emerging challenges in clinical diagnosis and treatment of rare diseases make it unable for data and resource platform to fully meet the diversified needs. Under this backdrop, we have developed a protocol to optimize and upgrade the system based on the core functions of the NRDRS platform. The goal is to leverage intelligent digital technologies to transform NRDRS into a new platform integrating multimodal data and auxiliary diagnostic and treatment functions. It is specified as the development and construction of "one platform and four intelligent tools." Currently, we have upgraded and developed NRDRS platform, intelligent tool for genotype-phenotype analysis of rare diseases, AI-assisted diagnostic tool for rare diseases, remote multidisciplinary diagnosis and teaching tool for rare diseases, drug screening and validation tool for rare diseases. The next step will focus on the promotion of the application of these tools in clinical settings in order to address the issue of severe imbalance in the allocation of resources for the diagnosis and treatment of rare diseases. This article provides an overview of the digital and intelligent upgrades of the NRDRS, the trials in applications in clinical settings, and direction in the future.
5.Treatment of trigeminal neuralgia with botulinum toxin type A and cobrotoxin: a case report
Yingying XU ; Shuyang MA ; Ying LI ; Jili BAO ; Zhou XU ; Chengwei GUO ; Jing LIU ; Weifeng LUO
Chinese Journal of Neurology 2025;58(4):426-429
Trigeminal neuralgia is characterized by intense pain in the sensory distribution area of the trigeminal nerve. It can be triggered by non-noxious stimuli such as brushing teeth and washing face. At present, the treatment of trigeminal neuralgia mainly includes oral drugs and surgical treatments. A 92-year-old patient with trigeminal neuralgia was reported. The pain could not be alleviated because the patient was unable to tolerate the side effects of drugs and surgical treatment. Taking into account the onset time and the duration of the curative effect, botulinum toxin type A was combined with cobrotoxin for the treatment of the patient. As a result, the pain symptoms were rapidly alleviated and remained in a relieved state for 8 months. The clinical characteristics of this patient were summarized in this article, and the possible synergistic mechanisms of action of the 2 drugs were discussed. The ultimate objective is to furnish a broader spectrum of alternatives and references for clinical practice.
6.2023 China minimally invasive cardiovascular surgery statistics and future development thinking
Yao WANG ; Ye YANG ; Shuyang LU ; Zhe ZHENG ; Nianguo DONG ; Huiming GUO ; Song XUE ; Liming LIU ; Yingqiang GUO ; Xuezeng XU ; Lai WEI ; Chunsheng WANG
Chinese Journal of Thoracic and Cardiovascular Surgery 2025;41(6):321-327
Objective:Committee of Minimally Invasive Cardiovascular Surgery(CMICS) conducts an annual summary of minimally invasive cardiovascular surgery procedures performed throughout the country, which includes a comprehensive survey of the total number of minimally invasive procedures by region and the distribution of minimally invasive procedures by hospital. Since CMICS first published the 2018-2019 China Minimally Invasive Cardiovascular Surgery Data White Paper in 2020, the report has received great attention from peers within and outside the industry. In this statistical report, CMICS will focus on publishing the data related to minimally invasive cardiovascular surgery in China from 2021 to 2023 for reference and use by industry peers.
7.Rare disease clinical research data collection and management challenges and digital intelligence response strategies
Jian GUO ; GULIDANNA·ASIHAER ; Shuyang ZHANG
Chinese Journal of Pharmacoepidemiology 2025;34(8):897-907
Rare diseases are characterized by very low incidence and prevalence rates,complex genetic mechanisms,and diverse clinical phenotypes,posing significant diagnostic and therapeutic challenges in clinical research.In principle,the design of clinical research protocols for rare diseases does not differ significantly from general clinical research.However,the difficulties mainly stem from the unique characteristics of rare diseases,which amplify the challenges and limitations inherent in general clinical research.These challenges typically involve five aspects:data collection,data management,technical methods,ethical regulations,and patient engagement.However,with the rapid development of digital technologies such as information technology,artificial intelligence(AI),and blockchain,particularly in the innovative applications of data collection,storage,analysis,sharing,and management,new opportunities have emerged for the implementation and optimization of rare disease clinical research.Strategies for conducting rare disease clinical research using digital technologies are often applied to rare disease clinical research and patient management based on digitalized registration platforms,the development of AI-driven diagnostic aids to improve the accuracy of rare disease diagnosis,the use of digital technologies for decentralized rare disease clinical research,and the promotion of data fusion from multiple sources and modalities.However,during the application process,new challenges have gradually been identified.Despite of many challenges that still exist in terms of data privacy,algorithmic fairness,and ethical norms,with the continuous maturation of technology and the improvement of ethical frameworks,digitally-intelligent-driven clinical research on rare diseases remains promising.
8.Rare disease clinical research data collection and management challenges and digital intelligence response strategies
Jian GUO ; GULIDANNA·ASIHAER ; Shuyang ZHANG
Chinese Journal of Pharmacoepidemiology 2025;34(8):897-907
Rare diseases are characterized by very low incidence and prevalence rates,complex genetic mechanisms,and diverse clinical phenotypes,posing significant diagnostic and therapeutic challenges in clinical research.In principle,the design of clinical research protocols for rare diseases does not differ significantly from general clinical research.However,the difficulties mainly stem from the unique characteristics of rare diseases,which amplify the challenges and limitations inherent in general clinical research.These challenges typically involve five aspects:data collection,data management,technical methods,ethical regulations,and patient engagement.However,with the rapid development of digital technologies such as information technology,artificial intelligence(AI),and blockchain,particularly in the innovative applications of data collection,storage,analysis,sharing,and management,new opportunities have emerged for the implementation and optimization of rare disease clinical research.Strategies for conducting rare disease clinical research using digital technologies are often applied to rare disease clinical research and patient management based on digitalized registration platforms,the development of AI-driven diagnostic aids to improve the accuracy of rare disease diagnosis,the use of digital technologies for decentralized rare disease clinical research,and the promotion of data fusion from multiple sources and modalities.However,during the application process,new challenges have gradually been identified.Despite of many challenges that still exist in terms of data privacy,algorithmic fairness,and ethical norms,with the continuous maturation of technology and the improvement of ethical frameworks,digitally-intelligent-driven clinical research on rare diseases remains promising.
9.2023 China minimally invasive cardiovascular surgery statistics and future development thinking
Yao WANG ; Ye YANG ; Shuyang LU ; Zhe ZHENG ; Nianguo DONG ; Huiming GUO ; Song XUE ; Liming LIU ; Yingqiang GUO ; Xuezeng XU ; Lai WEI ; Chunsheng WANG
Chinese Journal of Thoracic and Cardiovascular Surgery 2025;41(6):321-327
Objective:Committee of Minimally Invasive Cardiovascular Surgery(CMICS) conducts an annual summary of minimally invasive cardiovascular surgery procedures performed throughout the country, which includes a comprehensive survey of the total number of minimally invasive procedures by region and the distribution of minimally invasive procedures by hospital. Since CMICS first published the 2018-2019 China Minimally Invasive Cardiovascular Surgery Data White Paper in 2020, the report has received great attention from peers within and outside the industry. In this statistical report, CMICS will focus on publishing the data related to minimally invasive cardiovascular surgery in China from 2021 to 2023 for reference and use by industry peers.
10.Treatment of trigeminal neuralgia with botulinum toxin type A and cobrotoxin: a case report
Yingying XU ; Shuyang MA ; Ying LI ; Jili BAO ; Zhou XU ; Chengwei GUO ; Jing LIU ; Weifeng LUO
Chinese Journal of Neurology 2025;58(4):426-429
Trigeminal neuralgia is characterized by intense pain in the sensory distribution area of the trigeminal nerve. It can be triggered by non-noxious stimuli such as brushing teeth and washing face. At present, the treatment of trigeminal neuralgia mainly includes oral drugs and surgical treatments. A 92-year-old patient with trigeminal neuralgia was reported. The pain could not be alleviated because the patient was unable to tolerate the side effects of drugs and surgical treatment. Taking into account the onset time and the duration of the curative effect, botulinum toxin type A was combined with cobrotoxin for the treatment of the patient. As a result, the pain symptoms were rapidly alleviated and remained in a relieved state for 8 months. The clinical characteristics of this patient were summarized in this article, and the possible synergistic mechanisms of action of the 2 drugs were discussed. The ultimate objective is to furnish a broader spectrum of alternatives and references for clinical practice.

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