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.Application of virtual reality technology in functional recovery of peripheral nerve injury
Shuyang ZHANG ; Xinyu DU ; Donglin ZHAO ; Zheng XING ; Xiaolei CHU ; Qi LI
Chinese Journal of Tissue Engineering Research 2025;29(21):4593-4601
BACKGROUND:Virtual reality technology is a popular human-computer intelligent interaction technology in recent years,and has been widely used in leisure and entertainment,vocational training,medical rehabilitation and other fields. OBJECTIVE:To explore the potential of virtual reality technology combined with different therapies in functional recovery of patients with peripheral nerveinjury,summarize its mechanism of action,evaluate its application effects and prospects,and discuss its advantages and disadvantages,so as to provide new ideas and methods for rehabilitation practice after peripheral nerve injury.METHODS:The relevant literature of CNKI and PubMed database from inception to May 2024 was retrieved by computer. Chinese and English search terms were "peripheral nerves injury,virtual reality,endoplasmic reticulum stress,muscle atrophy,cerebral cortex,mirror therapy,tendon vibration,treadmill training." Finally,68 articles were included for analysis.RESULTS AND CONCLUSION:(1) Virtual reality technology,as a new auxiliary means,simulates the real environment to provide immersive multi-sensory experiences for patients,greatly enriching the dimensions of rehabilitation training and significantly accelerating the recovery process of patients with peripheral nerve injury. Its mechanism of action is to promote cortical plasticity through multi-sensory stimulation,invading the dormant areas adjacent to the cortex,and these areas responding to other inputs or generating new muscle activation,thereby promoting functional recovery. (2) Virtual reality technology has been widely combined with traditional therapies,showcasing its unique advantages. When combined with mirror therapy,the advantage of virtual reality is breaking the limitation of body position and advancing the time point of rehabilitation intervention. When combined with tendon vibration,virtual reality technology enhances the dual stimulation of visual and tactile perception to enhance the illusion of movement,significantly improving the perception and motor ability of patients,but also raises the issue of increased perception of limb weight. In running machine training,virtual reality technology further leverages its advantages by simulating real-life environments through multi-sensory stimulation to enhance balance and walking function,but problems such as motion sickness still exist. (3) Therefore,in actual applications,due to the fact that virtual reality combined with mirror therapy and tendon vibration will enhance the illusion of movement for patients,it is more suitable for early stages of rehabilitation. Meanwhile,the combination of virtual reality and treadmill training is suitable for the later stage of rehabilitation,helping patients to better return to their daily lives. (4) Although virtual reality technology has shown great potential in peripheral nerve injury rehabilitation,there are still some problems and challenges,such as motion sickness,the design and application of virtual reality rehabilitation games,and ethical considerations. Future research should focus on solving these problems to further promote the development of virtual reality technology in the field of rehabilitation.
3.Application of virtual reality technology in functional recovery of peripheral nerve injury
Shuyang ZHANG ; Xinyu DU ; Donglin ZHAO ; Zheng XING ; Xiaolei CHU ; Qi LI
Chinese Journal of Tissue Engineering Research 2025;29(21):4593-4601
BACKGROUND:Virtual reality technology is a popular human-computer intelligent interaction technology in recent years,and has been widely used in leisure and entertainment,vocational training,medical rehabilitation and other fields. OBJECTIVE:To explore the potential of virtual reality technology combined with different therapies in functional recovery of patients with peripheral nerveinjury,summarize its mechanism of action,evaluate its application effects and prospects,and discuss its advantages and disadvantages,so as to provide new ideas and methods for rehabilitation practice after peripheral nerve injury.METHODS:The relevant literature of CNKI and PubMed database from inception to May 2024 was retrieved by computer. Chinese and English search terms were "peripheral nerves injury,virtual reality,endoplasmic reticulum stress,muscle atrophy,cerebral cortex,mirror therapy,tendon vibration,treadmill training." Finally,68 articles were included for analysis.RESULTS AND CONCLUSION:(1) Virtual reality technology,as a new auxiliary means,simulates the real environment to provide immersive multi-sensory experiences for patients,greatly enriching the dimensions of rehabilitation training and significantly accelerating the recovery process of patients with peripheral nerve injury. Its mechanism of action is to promote cortical plasticity through multi-sensory stimulation,invading the dormant areas adjacent to the cortex,and these areas responding to other inputs or generating new muscle activation,thereby promoting functional recovery. (2) Virtual reality technology has been widely combined with traditional therapies,showcasing its unique advantages. When combined with mirror therapy,the advantage of virtual reality is breaking the limitation of body position and advancing the time point of rehabilitation intervention. When combined with tendon vibration,virtual reality technology enhances the dual stimulation of visual and tactile perception to enhance the illusion of movement,significantly improving the perception and motor ability of patients,but also raises the issue of increased perception of limb weight. In running machine training,virtual reality technology further leverages its advantages by simulating real-life environments through multi-sensory stimulation to enhance balance and walking function,but problems such as motion sickness still exist. (3) Therefore,in actual applications,due to the fact that virtual reality combined with mirror therapy and tendon vibration will enhance the illusion of movement for patients,it is more suitable for early stages of rehabilitation. Meanwhile,the combination of virtual reality and treadmill training is suitable for the later stage of rehabilitation,helping patients to better return to their daily lives. (4) Although virtual reality technology has shown great potential in peripheral nerve injury rehabilitation,there are still some problems and challenges,such as motion sickness,the design and application of virtual reality rehabilitation games,and ethical considerations. Future research should focus on solving these problems to further promote the development of virtual reality technology in the field of rehabilitation.
4.Expert Consensus of Multidisciplinary Diagnosis and Treatment for Paroxysmal Nocturnal Hemoglobinuria(2024)
Miao CHEN ; Chen YANG ; Ziwei LIU ; Wei CAO ; Bo ZHANG ; Xin LIU ; Jingnan LI ; Wei LIU ; Jie PAN ; Jian WANG ; Yuehong ZHENG ; Yuexin CHEN ; Fangda LI ; Shunda DU ; Cong NING ; Limeng CHEN ; Cai YUE ; Jun NI ; Min PENG ; Xiaoxiao GUO ; Tao WANG ; Hongjun LI ; Rongrong LI ; Tong WU ; Bing HAN ; Shuyang ZHANG ; MULTIDISCIPLINE COLLABORATION GROUP ON RARE DISEASE AT PEKING UNION MEDICAL COLLEGE HOSPITAL
Medical Journal of Peking Union Medical College Hospital 2024;15(5):1011-1028
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disease caused by abnormal expression of glycosylphosphatidylinositol (GPI) on the cell membrane due to mutations in the phosphatidylinositol glycan class A(PIGA) gene. It is commonly characterized by intravascular hemolysis, repeated thrombosis, and bone marrow failure, as well as multiple systemic involvement symptoms such as renal dysfunction, pulmonary hypertension, swallowing difficulties, chest pain, abdominal pain, and erectile dysfunction. Due to the rarity of PNH and its strong heterogeneity in clinical manifestations, multidisciplinary collaboration is often required for diagnosis and treatment. Peking Union Medical College Hospital, relying on the rare disease diagnosis and treatment platform, has invited multidisciplinary clinical experts to form a unified opinion on the diagnosis and treatment of PNH, and formulated the
5.Multi-dimensional investigation of existing problems in the cultivation of clinical pharmacy undergraduates in China
Xinyu SHEN ; Shuyang ZHAO ; Fuhua DENG ; Yixun DU ; Ting MEI ; Yanan LIANG
Chinese Journal of Medical Education Research 2024;23(9):1232-1237
Objective:To investigate the influencing factors for the training quality of clinical pharmacy undergraduates in China from multiple dimensions and the problems existing in the current training model, to propose suggestions for improvement, and to provide a reference for improving the training quality of clinical pharmacy undergraduates in China.Methods:Four dimensions of vital importance to the training quality of clinical pharmacy undergraduates in China were summarized based on the results of previous literature research and semi-structured interviews, and a questionnaire was designed to conduct a survey among clinical pharmacy undergraduates. Then based on the problems obtained through feedback, an investigation was conducted among the clinical pharmacists in various provinces across the country. SPSS 25.0 was used to perform a statistical analysis.Results:The influencing factors for the cultivation and development of clinical pharmacy undergraduates included insufficient awareness of their major [18.28% (17/93) of the senior and graduate students still had no understanding or relatively little understanding of their major], a lack of specialty characteristics in undergraduate education of clinical pharmacy [35.91% (107/298) of the students thought that the arrangement of public courses during the undergraduate period of clinical pharmacy was unreasonable or needed improvement], unreasonable arrangement of the contents and time of internship [34.23% (102/298) of the students thought that the experiment and internship arrangement during the undergraduate period of clinical pharmacy was unreasonable or needed to be improved], and inadequate cultivation of learning and scientific research innovation abilities [66.78% (199/298) of the students had not participated in scientific research projects or training, with σ>1 in the statistics of various learning behaviors]. Conclusions:Professional cognition and internship/practice should be taken seriously in the training system of clinical pharmacy undergraduates. Curriculum setting should be optimized to enhance specialty characteristics, and the teaching and training model should be improved to focus on ability training.
6.Application value of delay-phase 99Tc m-PYP scintigraphy and SPECT imaging for diagnosis of transthyretin-related cardiac amyloidosis
Chao REN ; Jingyun REN ; Yanrong DU ; Zhuang TIAN ; Shan HE ; Xuezhu WANG ; Zhixin HAO ; Jie DING ; Shuyang ZHANG ; Fang LI ; Li HUO
Chinese Journal of Nuclear Medicine and Molecular Imaging 2022;42(1):1-6
Objective:To investigate the application of different imaging methods of 99Tc m-pyrophosphate (PYP) in the diagnosis and pathological classification of cardiac amyloidosis (CA). Methods:A total of 31 patients (22 males, 9 females, age 21-81(57.2±13.4) years) with suspected CA who underwent 99Tc m-PYP dual-phase scintigraphy (early-phase: 1 h, delay-phase: 2-3 h) and SPECT/CT (1 h) between December 2018 and December 2019 in Peking Union Medical College Hospital were retrospectively included. Taking clinical diagnosis as the standard, the results of visual score (≥2, positive) and semi-quantitative values (heart to contralateral lung (H/CL)≥1.5, positive) of 99Tc m-PYP uptake in dual-phase scintigraphy and SPECT/CT imaging were analyzed. One-way analysis of variance and Bonferroni test were used to analyze the data. Results:Among 31 patients with suspected CA, 15 were clinically diagnosed as CA (5 patients with transthyretin-related CA (ATTR-CA) and 10 patients with light chain CA (AL-CA)) and 16 were diagnosed as non-CA. All 5 patients with ATTR-CA had positive dual-phase scintigraphy and SPECT/CT imaging results. Three out of 10 patients with AL-CA had positive early-phase scintigraphy whereas negative delay-phase scintigraphy and SPECT/CT imaging results. Sixteen patients who were clinically diagnosed as non-CA had negative dual-phase scintigraphy and SPECT/CT imaging results. The sensitivity (5/5), specificity (10/10), positive predictive value (5/5), negative predictive value (10/10) and accuracy (15/15) of delay-phase scintigraphy and SPECT/CT imaging were the same. Among 31 patients, 16 patients carried transthyretin-related (TTR) gene mutation, and 4 of them who clinically diagnosed as variant ATTR (ATTRv) had positive image findings while 12 of them who not clinically diagnosed as CA had negative image findings. There were significant differences in H/CL between ATTR-CA group and AL-CA group in early-phase (2.11±0.24 vs 1.31±0.07) and delay-phase (2.02±0.19 vs 1.30±0.05; F values: 75.41 and 87.15, Bonferroni test, both P<0.01). Conclusions:99Tc m-PYP delay-phase scintigraphy and SPECT/CT have high diagnostic efficiencies in ATTR-CA, helping to determine the pathological classification of CA; while early-phase scintigraphy has false positive results. Moreover, 99Tc m-PYP imaging is helpful to detect CA in patients with TTR gene mutation.
7.Study on Improvement of Quality Standards of Shiwei Yipi Granules
Xin ZHANG ; Xinyi LU ; Jiutai MA ; Baihua LI ; Dong HAN ; Shuyang DU ; Ying CHEN ; Feng LIU
China Pharmacy 2020;31(18):2214-2218
OBJECTIVE:To prov ide reference for the improvement of quality standards of Shiwei yipi granules. METHODS : According to the general rules of 2015 edition of Chinese Pharmacopeia (part Ⅳ),microscopic identification was used to identify Massa Medicata Fermentata and Galli Gigerii Endothelium Corneum ;TLC method was used to qualitatively identify Crataegi Fructus and Semen Raphani ;the content of sinapine thiocyanate in Semen Raphani was determined by HPLC. RESULTS :The microscopic characteristics were obvious for Massa Medicata Fermentata (palisade cells of testa and stone cells of testa )and Galli Gigerii Endothelium Corneum (irregular fragments ). The same fluorescent spots of Crataegi Fructus and Semen Raphani were displayed at the same position of ursolic acid ,sinapine thiocyanate control and Semen Raphani reference substance. The linear range of sinapine thiocyanate was 23.27-9 574.42 ng (r=1.000 0). The LOD and LOQ were of 0.50 μ g/mL and 1.68 μ g/mL, respectively. RSDs of precision ,repeatability,intermediate precision and stability tests (24 h)were all less than 1.5%. The average recoveries were 99.40%-100.89%(RSDs were 0.18%-0.49%,n=3). The contents of sinapine thiocyanate in 3 batches of Shiwei yipi granules were 0.086 4-0.220 6 mg/g,the average was 0.168 4 mg/g. CONCLUSIONS :The identification method of Massa Medicata Fermentata ,Galli Gigerii Endothelium Corneum ,Crataegi Fructus and Semen Raphani in Shiwei yipi granules as well as the method for content determination of sinapine thiocyanate in Semen Raphani are established successfully. The content of Semen Raphani in the Shiwei yipi granules is no less than 0.16 mg/g calculated by sinapine thiocyanate (C16H24NO·5 SCN).
8.Application of 99Tc m-pyrophosphate in transthyretin cardiac amyloidosis
Jingyun REN ; Chao REN ; Yanrong DU ; Shan HE ; Zhuang TIAN ; Peng LIU ; Li HUO ; Fang LI ; Shuyang ZHANG
Chinese Journal of Nuclear Medicine and Molecular Imaging 2020;40(10):577-582
Objective:To evaluate the diagnostic value of 99Tc m-pyrophosphate (PYP) in transthyretin cardiac amyloidosis. Methods:From December 2018 to July 2019, 17 patients (9 males, 8 females, age: (53.4±13.0) years) with suspected cardiac amyloidosis underwent 99Tc m-PYP imaging in Peking Union Medical College Hospital were prospectively included. Visual score and semi-quantitative values (heart to contralateral ratio, H/CL) of 99Tc m-PYP uptake were used to diagnose transthyretin amyloidosis (ATTR). Biopsies and genetic measurements were also developed to evaluate the diagnostic value of the imaging. Results:Five of the 17 patients were diagnosed as ATTR with a visual score of 2-3, H/CL≥1.5, and confirmed with the biopsy or gene test. Four patients were diagnosed as ATTR with positive genetic results but no cardiac symptoms, and their visual scores were between 0 and 1 with H/CL<1.5. Considering the young age of the patients, amyloid deposition might have not yet caused visceral damage. Visual score of other 8 patients with negative 99Tc m-PYP imaging were also between 0 and 1 with H/CL<1.5, 2 of 8 were confirmed with light chain amyloidosis (AL) by biopsy, 3 were clinically diagnosed as AL and 3 were ATTR excluded. The accuracy of 99Tc m-PYP imaging for diagnosing ATTR was 11/11. Conclusion:99Tc m-PYP imaging is helpful for non-invasive diagnosis of transthyretin cardiac amyloidosis.
9.Immunogenicity study of human papillomavirus type 68b virus-like particles expressed in a Hansenu-la polymorpha strain
Shi CHEN ; Yuqin JIN ; Lifang DU ; Yu LIANG ; Shuyang GUO ; Qiming LI
Chinese Journal of Microbiology and Immunology 2015;(9):653-656
Objective To evaluate the immunogenicity of the recombinant human papillomavirus type 68b (HPV68b) virus-like particles(VLPs)in a mouse model.Methods The L1 protein of HPV type 68b was successful expressed in the Hansenula polymorpha strain (NVSI-68b-1).Processes including purifi-cation and reconstitution were performed to achieve pure HPV 68b VLPs.The purity, morphology and immu-nogenicity of the purified HPV 68 b VLPs were further analyzed .The BALB/c mice were immunized with HPV68b VLPs formulated on aluminum adjuvant .Pseudovirus-neutralizing antibody ( PsV NAb) assay was performed to detect the neutralizing antibodies in serum samples .Results The HPV 68 b L1 VLPs were ob-tained as indicated by the results of SDS-PAGE, Western blot assay , HPLC, electron microscopy and dy-namic light scattering with a high purity of 95%.Transmission electron microscopy and dynamic light scat-tering analysis revealed that the HPV68b L1 VLPs resembled the native virus with an average particle diame-ter of 50 nm.High levels of HPV68b-neutralizing antibodies were detected in serum samples from the mice immunized with HPV68b L1 VLPs.Moreover, a cross-protective efficacy of HPV68b L1 VLPs for HPV68a was observed .Conclusion This study suggested that the recombinant HPV 68 b VLPs expressed in a Han-senula polymorpha strain might be used as a potential candidate for the development of HPV vaccine .

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