1.A preliminary study of apolipoprotein B assay combined with whole exome sequencing for accurate diagnosis of hyperlipidemia
Chang ZHAO ; Fang ZHENG ; Xueping QIU ; Liang CAO ; Fan WANG ; Ruiyang ZHU ; Daoxi QI ; Shuyang SHENG
Chinese Journal of Laboratory Medicine 2025;48(7):895-901
Objective:To investigate the use of apolipoprotein B (ApoB) diagnostic algorithm for hyperlipidemia typing combined with whole exome sequencing in the precise diagnosis of familial hyperlipidemia.Methods:A retrospective observational study was conducted by collecting clinical information on all patients who attended our hospital, and had their lipid levels tested from January 2023 to May 2024, including 440 patients with low-density lipoprotein cholesterol (LDL-C)>4.10 mmol/L. Family history, current lipid levels, medication use, and comorbidities were collected by telephone follow-ups. Among them, 10 patients had a family history of hyperlipidemia. Peripheral venous blood samples were collected from patients with a family history of hyperlipidemia, and whole exome sequencing was performed.Results:According to the Fredrickson typing of WHO, 10 patients (P1 to P10) could be categorized into two groups, of which only type Ⅱa could be excluded in 6 cases, and the typing could not be determined in 4 cases. The ApoB diagnostic algorithm of hyperlipidemia typing could classify patients P1 and P2 as type Ⅱa, patients P3 to P7, P9 and P10 as type Ⅱb, and patient P8 as type Ⅴ, respectively. Whole exome sequencing detected mutations in LDLR, PCSK9, C5AR2, KIF12, ALMS1, ABCG5, COL4A3, and MTTP genes.Conclusion:The ApoB diagnostic algorithm for hyperlipidemia can be used for accurate typing of hyperlipidemia, and ApoB could be recommended as a routine lipid testing parameter. The ApoB diagnostic algorithm for hyperlipidemia combined with whole exome sequencing could be used for the accurate typing of patients with familial hyperlipidemia and defining the underlying gene mutations.
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.Assessment of risk factors for neonatal bacterial meningitis and establishment of a clinical prediction model
Guanchu CHEN ; Kun CHENG ; Shuyang HOU ; Yuan HUO ; Jianming TANG ; Fangping ZHAO ; Weiyang LI ; Hongxia GAO
Chinese Journal of Perinatal Medicine 2025;28(4):313-319
Objective:To investigate the risk factors and construct a nomogram prediction model for neonatal bacterial meningitis (BM).Methods:A retrospective cohort study was conducted on 1 228 neonates who underwent lumbar puncture for cerebrospinal fluid examination in the Department of Neonatology at Gansu Provincial Women and Child Healthcare Hospital from December 2019 to February 2024. The subjects were randomly divided into a training cohort and a validation cohort at a ratio of 7∶3 using a computer program. Rank sum test or Chi-square tests were used to compare differences between the two cohorts. The subjects were divided into BM and non-BM groups based on the presence or absence of BM. Multivariate logistic regression analysis (forward stepwise regression method) was used in the training cohort to identify risk factors for BM. The area under the receiver operating characteristic curve (AUC) and the Hosmer-Lemeshow goodness-of-fit test were used to assess the discrimination and calibration of the model, respectively. Calibration curves were used to evaluate the accuracy of the model and to construct the nomogram. Internal validation was performed using the Bootstrap resampling method. Decision curve analysis was used to assess the clinical utility of the model. Results:Among the 1 228 neonates, 151 (12.3%) had BM. The training cohort included 859 neonates, of whom 106 (12.3%) had BM and 753 (87.7%) did not. The validation cohort included 369 neonates, of whom 45 (12.2%) had BM and 324 (87.8%) did not. The results of the multivariate logistic regression analysis in the training cohort showed that sepsis ( OR=4.446, 95% CI:2.583-7.653), convulsions ( OR=3.749, 95% CI:1.930-7.280), high maximum body temperature ( OR=2.027, 95% CI:1.636-2.513), and elevated C-reactive protein ( OR=1.007, 95% CI:1.003-1.012) were independent risk factors for BM, while greater gestational age at birth ( OR=0.946, 95% CI: 0.898-0.995) and higher hemoglobin levels ( OR=0.990, 95% CI:0.981-0.998) were protective factors for BM (all P<0.05). Based on these findings, a nomogram prediction model for neonatal BM was constructed and validated for accuracy. The AUC values of the nomogram model in the training and validation cohorts were 0.796 (95% CI: 0.750-0.843) and 0.781 (95% CI: 0.700-0.862), respectively. The Hosmer-Lemeshow goodness-of-fit test showed P>0.05 in both cohorts. The clinical decision curve analysis demonstrated good net benefit across most threshold ranges. Conclusions:Sepsis, convulsions, high maximum body temperature, and elevated C-reactive protein increase the risk of neonatal BM. The nomogram model constructed based on these factors, combined with gestational age and hemoglobin levels, provides a reference value for predicting the risk of neonatal BM.
4.Exploration of the Dosage Pattern and Mechanism of Chinese Medicines for the Treatment of Alzheimer's Disease Based on Data Mining,Network Pharmacology and Molecular Simulation
Shuyang ZHAO ; Jianhe ZHAO ; Zhihong LIU ; Jun WU ; Ailin LIU ; Jiansong FANG
World Science and Technology-Modernization of Traditional Chinese Medicine 2025;27(6):1766-1779
Objective Based on the Ancient and Modern Medical Case Cloud Platform V2.3.7,analyze the medication pattern and mechanism of action of Chinese medicines commonly used in famous medical cases for the treatment of Alzheimer's disease(AD).Methods The core Chinese medicines for AD were screened according to the inclusion and exclusion criteria by searching the famous Chinese medicine cases in the platform,then established the disease-core Chinese medicines-active ingredients-common targets network.The protein-protein interaction network(PPI)was established through the common targets.Gene oncology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analyses were performed by David platform.Molecular docking and dynamics simulations were employed to evaluate the binding affinity and stability between key targets and active ingredients.Results Data mining was performed on all the famous medical cases from the time of database construction to October 2023,and the results were summarized as follows.The high-frequency regulating Qi medications and tonifying Qi medications were Citri Reticulatae Pericarpium and Aurantii Fructus Immaturus;Panax ginseng,Ziziphi Jujubae Fructus,Codonopsis pilosula,Astragali Radix,Atractylodis Macrocephalae Rhizoma,Dioscoreae Rhizoma,and Glycyrrhizae Radix et Rhizoma.The core herbs contained 778 active ingredients and 377 targets;1986 disease targets;79 common targets were obtained after intersection with AD targets,and 7 core targets were identified through PPI network topology analysis,including TNF,AKT1,TP53,PPARG,etc.GO and KEGG pathway enrichment analyses confirmed that the targets of the active ingredients of the core herbs involved 138 pathways,and the core herbs could regulate chemical carcinogenesis-receptor activation、serotonergic synapse、chemical carcinogenesis-reactive oxygen species pathways to treat AD.Molecular docking and molecular dynamics simulation results showed good binding ability and stability between the key targets and the core components.Conclusion Through data mining to analyze the core herbs for the treatment of AD,the present investigation showing the pharmacological mechanism of 12-O-Nicotinoylisolineolone and Odoratin in the treatment of Alzheimer's disease at the molecular level,lay a certain theoretical foundation of 12-O-Nicotinoylisolineolone and Odoratin in the future.
5.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.
6.Exploration of the Dosage Pattern and Mechanism of Chinese Medicines for the Treatment of Alzheimer's Disease Based on Data Mining,Network Pharmacology and Molecular Simulation
Shuyang ZHAO ; Jianhe ZHAO ; Zhihong LIU ; Jun WU ; Ailin LIU ; Jiansong FANG
World Science and Technology-Modernization of Traditional Chinese Medicine 2025;27(6):1766-1779
Objective Based on the Ancient and Modern Medical Case Cloud Platform V2.3.7,analyze the medication pattern and mechanism of action of Chinese medicines commonly used in famous medical cases for the treatment of Alzheimer's disease(AD).Methods The core Chinese medicines for AD were screened according to the inclusion and exclusion criteria by searching the famous Chinese medicine cases in the platform,then established the disease-core Chinese medicines-active ingredients-common targets network.The protein-protein interaction network(PPI)was established through the common targets.Gene oncology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analyses were performed by David platform.Molecular docking and dynamics simulations were employed to evaluate the binding affinity and stability between key targets and active ingredients.Results Data mining was performed on all the famous medical cases from the time of database construction to October 2023,and the results were summarized as follows.The high-frequency regulating Qi medications and tonifying Qi medications were Citri Reticulatae Pericarpium and Aurantii Fructus Immaturus;Panax ginseng,Ziziphi Jujubae Fructus,Codonopsis pilosula,Astragali Radix,Atractylodis Macrocephalae Rhizoma,Dioscoreae Rhizoma,and Glycyrrhizae Radix et Rhizoma.The core herbs contained 778 active ingredients and 377 targets;1986 disease targets;79 common targets were obtained after intersection with AD targets,and 7 core targets were identified through PPI network topology analysis,including TNF,AKT1,TP53,PPARG,etc.GO and KEGG pathway enrichment analyses confirmed that the targets of the active ingredients of the core herbs involved 138 pathways,and the core herbs could regulate chemical carcinogenesis-receptor activation、serotonergic synapse、chemical carcinogenesis-reactive oxygen species pathways to treat AD.Molecular docking and molecular dynamics simulation results showed good binding ability and stability between the key targets and the core components.Conclusion Through data mining to analyze the core herbs for the treatment of AD,the present investigation showing the pharmacological mechanism of 12-O-Nicotinoylisolineolone and Odoratin in the treatment of Alzheimer's disease at the molecular level,lay a certain theoretical foundation of 12-O-Nicotinoylisolineolone and Odoratin in the future.
7.A preliminary study of apolipoprotein B assay combined with whole exome sequencing for accurate diagnosis of hyperlipidemia
Chang ZHAO ; Fang ZHENG ; Xueping QIU ; Liang CAO ; Fan WANG ; Ruiyang ZHU ; Daoxi QI ; Shuyang SHENG
Chinese Journal of Laboratory Medicine 2025;48(7):895-901
Objective:To investigate the use of apolipoprotein B (ApoB) diagnostic algorithm for hyperlipidemia typing combined with whole exome sequencing in the precise diagnosis of familial hyperlipidemia.Methods:A retrospective observational study was conducted by collecting clinical information on all patients who attended our hospital, and had their lipid levels tested from January 2023 to May 2024, including 440 patients with low-density lipoprotein cholesterol (LDL-C)>4.10 mmol/L. Family history, current lipid levels, medication use, and comorbidities were collected by telephone follow-ups. Among them, 10 patients had a family history of hyperlipidemia. Peripheral venous blood samples were collected from patients with a family history of hyperlipidemia, and whole exome sequencing was performed.Results:According to the Fredrickson typing of WHO, 10 patients (P1 to P10) could be categorized into two groups, of which only type Ⅱa could be excluded in 6 cases, and the typing could not be determined in 4 cases. The ApoB diagnostic algorithm of hyperlipidemia typing could classify patients P1 and P2 as type Ⅱa, patients P3 to P7, P9 and P10 as type Ⅱb, and patient P8 as type Ⅴ, respectively. Whole exome sequencing detected mutations in LDLR, PCSK9, C5AR2, KIF12, ALMS1, ABCG5, COL4A3, and MTTP genes.Conclusion:The ApoB diagnostic algorithm for hyperlipidemia can be used for accurate typing of hyperlipidemia, and ApoB could be recommended as a routine lipid testing parameter. The ApoB diagnostic algorithm for hyperlipidemia combined with whole exome sequencing could be used for the accurate typing of patients with familial hyperlipidemia and defining the underlying gene mutations.
8.Assessment of risk factors for neonatal bacterial meningitis and establishment of a clinical prediction model
Guanchu CHEN ; Kun CHENG ; Shuyang HOU ; Yuan HUO ; Jianming TANG ; Fangping ZHAO ; Weiyang LI ; Hongxia GAO
Chinese Journal of Perinatal Medicine 2025;28(4):313-319
Objective:To investigate the risk factors and construct a nomogram prediction model for neonatal bacterial meningitis (BM).Methods:A retrospective cohort study was conducted on 1 228 neonates who underwent lumbar puncture for cerebrospinal fluid examination in the Department of Neonatology at Gansu Provincial Women and Child Healthcare Hospital from December 2019 to February 2024. The subjects were randomly divided into a training cohort and a validation cohort at a ratio of 7∶3 using a computer program. Rank sum test or Chi-square tests were used to compare differences between the two cohorts. The subjects were divided into BM and non-BM groups based on the presence or absence of BM. Multivariate logistic regression analysis (forward stepwise regression method) was used in the training cohort to identify risk factors for BM. The area under the receiver operating characteristic curve (AUC) and the Hosmer-Lemeshow goodness-of-fit test were used to assess the discrimination and calibration of the model, respectively. Calibration curves were used to evaluate the accuracy of the model and to construct the nomogram. Internal validation was performed using the Bootstrap resampling method. Decision curve analysis was used to assess the clinical utility of the model. Results:Among the 1 228 neonates, 151 (12.3%) had BM. The training cohort included 859 neonates, of whom 106 (12.3%) had BM and 753 (87.7%) did not. The validation cohort included 369 neonates, of whom 45 (12.2%) had BM and 324 (87.8%) did not. The results of the multivariate logistic regression analysis in the training cohort showed that sepsis ( OR=4.446, 95% CI:2.583-7.653), convulsions ( OR=3.749, 95% CI:1.930-7.280), high maximum body temperature ( OR=2.027, 95% CI:1.636-2.513), and elevated C-reactive protein ( OR=1.007, 95% CI:1.003-1.012) were independent risk factors for BM, while greater gestational age at birth ( OR=0.946, 95% CI: 0.898-0.995) and higher hemoglobin levels ( OR=0.990, 95% CI:0.981-0.998) were protective factors for BM (all P<0.05). Based on these findings, a nomogram prediction model for neonatal BM was constructed and validated for accuracy. The AUC values of the nomogram model in the training and validation cohorts were 0.796 (95% CI: 0.750-0.843) and 0.781 (95% CI: 0.700-0.862), respectively. The Hosmer-Lemeshow goodness-of-fit test showed P>0.05 in both cohorts. The clinical decision curve analysis demonstrated good net benefit across most threshold ranges. Conclusions:Sepsis, convulsions, high maximum body temperature, and elevated C-reactive protein increase the risk of neonatal BM. The nomogram model constructed based on these factors, combined with gestational age and hemoglobin levels, provides a reference value for predicting the risk of neonatal BM.
9.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.
10.Thoughts on Selection of Rare Diseases and Prioritized Research Topics
Kexin LI ; Jingdan CHEN ; Dingding ZHANG ; Wudong GUO ; Jiayin ZHENG ; Linkang LI ; Kun ZHAO ; Shuyang ZHANG
JOURNAL OF RARE DISEASES 2024;3(2):269-274
This article combs and summarizes the entire process of rare disease selection and priority theme determination,including the application and preliminary review of rare diseases,standardization of disease theme information,the evaluation methods of evidence sorting and disease selection for priority se-lection of disease themes,and other aspects of the content were analyzed in depth.It is expected to provide reference for the subsequent selection of rare diseases,improve the fairness,rationality and scientificity of rare disease selection,and further promote research and decision-making in China's rare disease-related fields.

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