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.Comparison of Perioperative and Long-Term Outcomes Between Simple and Complex Segmentectomies for Treatment of ≤2 cm Solid Pulmonary Nodules
Songyuan GUO ; Zhitao GU ; Yiyang WANG ; Qingquan LUO
Cancer Research on Prevention and Treatment 2025;52(10):834-839
Objective To compare the prognostic differences between simple and complex segmentectomies. Methods We conducted a retrospective cohort analysis of patients with solid pulmonary nodules (≤2 cm) who underwent segmentectomy. Recurrence-free survival (RFS) and local recurrence rates were evaluated. Results We included57 patients undergoing complex segmentectomy and 53 patients undergoing simple segmentectomy. Among patients who did not receive adjuvant therapy, those in the complex group had a significantly lower five-year RFS than those in the simple group (69.86% vs. 85.97%, P=0.04). Furthermore, the local recurrence rate was significantly higher in the complex group (18.75% vs. 4.65%, P=0.003) than in the simple group. Conclusion For solid pulmonary nodules (≤2 cm), complex segmentectomy is associated with inferior local control and worse RFS than simple segmentectomy.
4.Potential utility of albumin-bilirubin and body mass index-based logistic model to predict survival outcome in non-small cell lung cancer with liver metastasis treated with immune checkpoint inhibitors.
Lianxi SONG ; Qinqin XU ; Ting ZHONG ; Wenhuan GUO ; Shaoding LIN ; Wenjuan JIANG ; Zhan WANG ; Li DENG ; Zhe HUANG ; Haoyue QIN ; Huan YAN ; Xing ZHANG ; Fan TONG ; Ruiguang ZHANG ; Zhaoyi LIU ; Lin ZHANG ; Xiaorong DONG ; Ting LI ; Chao FANG ; Xue CHEN ; Jun DENG ; Jing WANG ; Nong YANG ; Liang ZENG ; Yongchang ZHANG
Chinese Medical Journal 2025;138(4):478-480
5.Analysis of influencing factors of recurrence after en bloc spondylectomy of spinal tumors
Yiyang YU ; Jie ZANG ; Ran WEI ; Rongli YANG ; Wei GUO ; Xiaodong TANG
Chinese Journal of Surgery 2024;62(9):878-884
Objectives:To investigate the survival and tumor recurrence after en bloc spondylectomy of spinal tumor and analyze the risk factors of postoperative tumor recurrence.Methods:This is a retrospective case series study. Data of 101 patients undergoing en bloc spondylectomy of spinal tumors in the Musculoskeletal Tumor Center, Peking University People′s Hospital from December 2006 to June 2022 were analyzed. There were 58 males and 43 females, aged (38.2±15.8) years (range: 10 to 79 years) at the time of surgery; the follow-up time was(44.0±36.0) months (range: 12 to 171 months).Among them, there were 25 relapsed patients, with 7 females and 18 males; aged (34.8±16.3) years (range: 12 to 66 years) at the time of surgery. The types of tumors included 5 giant cell tumors of bone, 6 osteosarcomas, 1 chordoma, 5 chondrosarcomas, 1 undifferentiated sarcoma, 1 fibrosarcoma, 2 Ewing sarcomas, 3 metastases and 1 malignant giant cell tumor of bone. Survival analysis of overall and relapsed patients were performed using the Kaplan-Meier curves. A segmented regression model was used to fit the sequence of recurrence rate changes over time since admission and identify change points for further analysis on risk factors. Univariate and multivariate Logistic regression analysis were performed to assess risk factors associated with recurrence rate; results from multivariate regression analysis were presented using a forest plot.Results:The tumor recurrence rate after en bloc spondylectomy was 24.8% (25/101).The overall median recurrence-free survival after en bloc spondylectomy was 161 months (95% CI: 92 months to NA).The median recurrence-free survival of recurrent patients was 13 months (95% CI: 12 to 27 months).Regarding the classification based on tumor malignancy, and relapse-free survival of metastatic tumors was significantly shorter ( P=0.007); and among the surgical margin groups, relapse-free survival of R0 group was significantly better than the R1 and R2 groups ( P<0.01). According to the segmented regression model, the tumor recurrence rate for en bloc spondylectomy showed a significant downward trend over time, with relatively higher recurrence rates before 2009 and a relatively stable trend after 2014. The results of univariate analysis showed that surgical margin and time of admission were the influencing factors of patient recurrence. The results of multivariate analysis showed that the R1 resection( OR=13.453,95% CI:2.897 to 97.941, P=0.002) and R2 resection( OR=11.379,95% CI:2.658 to 79.429, P=0.003) were independent influencing factor affecting patient recurrence. Conclusions:The overall tumor recurrence rate after en bloc spondylectomy was high. The surgical margin of tumor resection is an independent risk factor affecting tumor recurrence. Specifically, R2 and R1 resections significantly increase the risk of tumor recurrence.
6.Analysis of influencing factors of recurrence after en bloc spondylectomy of spinal tumors
Yiyang YU ; Jie ZANG ; Ran WEI ; Rongli YANG ; Wei GUO ; Xiaodong TANG
Chinese Journal of Surgery 2024;62(9):878-884
Objectives:To investigate the survival and tumor recurrence after en bloc spondylectomy of spinal tumor and analyze the risk factors of postoperative tumor recurrence.Methods:This is a retrospective case series study. Data of 101 patients undergoing en bloc spondylectomy of spinal tumors in the Musculoskeletal Tumor Center, Peking University People′s Hospital from December 2006 to June 2022 were analyzed. There were 58 males and 43 females, aged (38.2±15.8) years (range: 10 to 79 years) at the time of surgery; the follow-up time was(44.0±36.0) months (range: 12 to 171 months).Among them, there were 25 relapsed patients, with 7 females and 18 males; aged (34.8±16.3) years (range: 12 to 66 years) at the time of surgery. The types of tumors included 5 giant cell tumors of bone, 6 osteosarcomas, 1 chordoma, 5 chondrosarcomas, 1 undifferentiated sarcoma, 1 fibrosarcoma, 2 Ewing sarcomas, 3 metastases and 1 malignant giant cell tumor of bone. Survival analysis of overall and relapsed patients were performed using the Kaplan-Meier curves. A segmented regression model was used to fit the sequence of recurrence rate changes over time since admission and identify change points for further analysis on risk factors. Univariate and multivariate Logistic regression analysis were performed to assess risk factors associated with recurrence rate; results from multivariate regression analysis were presented using a forest plot.Results:The tumor recurrence rate after en bloc spondylectomy was 24.8% (25/101).The overall median recurrence-free survival after en bloc spondylectomy was 161 months (95% CI: 92 months to NA).The median recurrence-free survival of recurrent patients was 13 months (95% CI: 12 to 27 months).Regarding the classification based on tumor malignancy, and relapse-free survival of metastatic tumors was significantly shorter ( P=0.007); and among the surgical margin groups, relapse-free survival of R0 group was significantly better than the R1 and R2 groups ( P<0.01). According to the segmented regression model, the tumor recurrence rate for en bloc spondylectomy showed a significant downward trend over time, with relatively higher recurrence rates before 2009 and a relatively stable trend after 2014. The results of univariate analysis showed that surgical margin and time of admission were the influencing factors of patient recurrence. The results of multivariate analysis showed that the R1 resection( OR=13.453,95% CI:2.897 to 97.941, P=0.002) and R2 resection( OR=11.379,95% CI:2.658 to 79.429, P=0.003) were independent influencing factor affecting patient recurrence. Conclusions:The overall tumor recurrence rate after en bloc spondylectomy was high. The surgical margin of tumor resection is an independent risk factor affecting tumor recurrence. Specifically, R2 and R1 resections significantly increase the risk of tumor recurrence.
7.Discussion on the Application Prospects and Challenges of Generative Artificial Intelligence Represented by ChatGPT in the Field of Hospital Management
Mingwang FANG ; Ling GUO ; Yingde HUANG ; Wei YUAN ; Yunyi GAO ; Yi ZHOU ; Yiyang ZHAO ; Bingxing SHUAI ; Xiangjun CHEN ; Weiyi ZHANG ; Dajiang LI
Journal of Medical Informatics 2024;45(10):18-21
Purpose/Significance To explore the changes,challenges,key application scenarios and future development directions of generative artificial intelligence(AI)represented by ChatGPT in the field of hospital management,and to provide references for the ap-plication of AI natural language processing(NLP)technology in the field of hospital management in China.Method/Process Through literature review and analysis,the changes and challenges brought about by the rapid development of generative AI in the field of hospital management are sorted out,its key application scenarios and future development directions in the field of hospital management are empha-sized and explored.Result/Conclusion AI has broad application prospects in the field of hospital management,and it should focus on exploring its practical application scenarios and strategic directions to provide reference and guidance for promoting the high-quality de-velopment of public hospitals.
8.Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.
Hui XI ; Qin LIU ; Dong Hua XIE ; Xu ZHOU ; Wang Lan TANG ; De Guo TANG ; Chun Yan ZENG ; Qiong WANG ; Xing Hui NIE ; Jin Ping PENG ; Xiao Ya GAO ; Hong Liang WU ; Hao Qing ZHANG ; Li QIU ; Zong Hui FENG ; Shu Yuan WANG ; Shu Xiang ZHOU ; Jun HE ; Shi Hao ZHOU ; Fa Qun ZHOU ; Jun Qing ZHENG ; Shun Yao WANG ; Shi Ping CHEN ; Zhi Fen ZHENG ; Xiao Yuan MA ; Jun Qun FANG ; Chang Biao LIANG ; Hua WANG
Biomedical and Environmental Sciences 2023;36(2):127-134
OBJECTIVE:
This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province.
METHODS:
We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed.
RESULTS:
The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α 3.7/αα (50.23%) and β IVS-II-654/β N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively.
CONCLUSION
Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
Humans
;
beta-Thalassemia/genetics*
;
alpha-Thalassemia/genetics*
;
Hemoglobinopathies/genetics*
;
China/epidemiology*
;
High-Throughput Nucleotide Sequencing
9.Effect of Bushen Huoxuetang on Expression of Bax/Bcl-2 and Cleaved Caspase-3 in Nude Mice with Bone Metastasis of Breast Cancer
Rong ZHU ; Xuebin GUO ; Manying YANG ; Xuezhen CHEN ; Yudie HU ; Zheng YANG ; Bo YUAN ; Jinhui HU
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(8):133-141
ObjectiveTo study the effect of Bushen Huoxuetang on the apoptosis and the expression of B-cell lymphoma (Bcl-2)-associated X protein (Bax)/ Bcl-2 and cleaved cysteine-containing aspartate proteolytic enzyme-3 (cleaved Caspase-3) in the nude mouse model of bone metastasis of breast cancer, and explore the mechanism of Bushen Huoxuetang in inhibiting bone destruction. MethodThirty BALB/c female nude mice were randomly assigned into blank group (n=6) and model group (n=24). The suspension of 4T1 breast cancer cells was injected into the tibia of mouse right lower limb to establish model of bone metastasis of breast cancer. The successfully modeled nude mice were randomly assigned into model group, Bushen Huoxuetang group, zoledronic acid group, and combined drug group, with 6 mice in each group. Bushen Huoxuetang was administrated at a dose of 36.67 g·kg-1, once a day, and zoledronic acid was administrated by subcutaneous injection at a dose of 100 μg·kg-1, twice a week. The combined drug group was administrated with the same doses of Bushen Huoxuetang group by gavage and zoledronic acid by subcutaneous injection. The mice in the blank group and the model group were administrated with the same volume of distilled water by gavage for 14 days. On the next day at the end of drug administration, the mice were sacrificed by cervical dislocation. The general situation and weight changes of the mice were examined. The right lower limb was collected, and X-ray scanning and hematoxylin-eosin (HE) staining methods were used for observation of pathological changes in the bone. The terminal deoxynucleotidyl transferase dUTP nick-end labeling (TUNEL) was employed to detect the apoptosis of bone tissue in nude mice, and Western blot to determine the expression of Bax/Bcl-2 and cleaved Caspase-3 in the bone tissue. ResultCompared with the blank group, the modeling reduced the body weight (P<0.01) and increased the right lower limb weight of the nude mice (P<0.01). Compared with the model group, Bushen Huoxuetang, zoledronic acid, and their combination increased the body weight (P<0.01) and decreased the right lower limb weight (P<0.01). Compared with the blank group, the other groups showed obvious tumor cell atypia, deep nuclear staining, and clear bone metastasis, and the model group showed obvious osteolytic damage in right lower limb and loss of proximal tibia and knee joint. Compared with the model group, Bushen Huoxuetang, zoledronic acid, and their combination reduced the osteolytic lesions in the right lower limb and recovered part of the bone structure, demonstrating an inhibitory effect on bone destruction. The TUNEL assay showed that the model group had lower apoptosis rate of bone metastatic tumor cells than the blank group, Bushen Huoxuetang group, zoledronic acid group, and combined drug group (P<0.01). Compared with the blank group, the modeling down-regulated the expression of Bax and cleaved Caspase-3 (P<0.01) and up-regulated the expression of Bcl-2 (P<0.01). Compared with the model group, Bushen Huoxuetang, zoledronic acid, and their combination up-regulated the expression of Bax (P<0.01) and cleaved Caspase-3 (P<0.05, P<0.01) and down-regulated the expression of Bcl-2 (P<0.05, P<0.01). ConclusionBushen Huoxuetang may inhibit bone destruction in the nude mouse model of bone metastasis of breast cancer by up-regulating the expression of Bax, down-regulating the expression of Bcl-2, activating cleaved Caspase-3, and further inducing apoptosis.
10.Correlation of the duration of preoperative biliary drainage and postoperative complications after pancreaticoduodenectomy
Huajun LIN ; Zhewen FENG ; Chengjian GUAN ; Xiaodong ZHANG ; Chenglin XIN ; Xiaozhe GU ; Yiyang MIN ; Dong WANG ; Wei GUO
Cancer Research and Clinic 2023;35(5):321-327
Objective:To investigate the effect of the duration of preoperative biliary drainage on postoperative complications after pancreaticoduodenectomy.Methods:The clinical data of 102 patients with benign and malignant hepatopancreatic ductal periampullary tumors who underwent pancreaticoduodenectomy and preoperative biliary drainage in Beijing Friendship Hospital, Capital Medical University from January 2016 to July 2020 were retrospectively analyzed. According to the median duration of preoperative biliary drainage, the patients were divided into short-term drainage group (≤ the median duration of biliary drainage) and long-term drainage group (> the median duration of biliary drainage). The general data, the effect of biliary drainage, inflammation-related indicators and postoperative complications were compared between the two groups. Multivariate logistic regression was used to screen the risk factors related to the postoperative severe complications.Results:Of the 102 patients, 68 (66.7%) were males and 34 (33.3%) were females, with a median age of 63 years (43-80 years). The median duration of preoperative biliary drainage was 14 d. There were 68 patients in short-term drainage group and 34 patients in long-term drainage group. There were no statistically significant differences in age, gender, body mass index (BMI), hypertension, diabetes mellitus, surgery history of upper abdominal, American Society of Anesthesiologists (ASA) grade, carcinoembryonic antigen, carbohydrate antigen 125, alpha-fetoprotein, prothrombin time, pancreaticojejunostomy method, operation time, and pathological type between the two groups (all P > 0.05). However, patients in long-term drainage group had higher conversion rate, more blood loss and longer hospital stay compared with those in short-term drainage group (all P < 0.05). Before biliary drainage, alanine aminotransferase (ALT) level in short-term drainage group was higher than that in long-term drainage group ( Z = -2.59, P = 0.009), and there were no statistically significant differences in aspartate aminotransferase (AST), albumin (ALB), total bilirubin (TB) and direct bilirubin (DB) levels between the two groups before biliary drainage (all P > 0.05). After biliary drainage, DB in short-term drainage group was higher than that in long-term drainage group ( Z = -3.34, P = 0.001), and there was no statistically significant difference in ALT, AST, ALB, TB levels between the two groups (all P > 0.05). There were no statistically significant differences in the levels of white blood cells, neutrophils, lymphocytes and the ratio of neutrophils to lymphocytes between the two groups on the 1st and 3rd day after the operation (all P > 0.05). The total incidence of postoperative related complications in short-term drainage group and long-term drainage group was 63.2% (43/68), 70.6% (24/34), respectively, and the difference was statistically significant ( χ2 = 0.54, P = 0.461); the incidences of bile leakage, abdominal or gastrointestinal bleeding, intra-abdominal infection, delayed gastric emptying, all grades of pancreatic leakage, grade B and C pancreatic leakage were not statistically different between the two groups (all P > 0.05); the incidence of severe postoperative related complications in short-term drainage group was higher than that in long-term drainage group [27.9% (19/68) vs. 8.8% (3/34), χ2 = 4.90, P = 0.027]. Multivariate logistic regression analysis showed that the long-term preoperative biliary drainage was an independent protective factor for postoperative severe complications (long-term drainage vs. short-term drainage: OR = 0.253, 95% CI 0.066-0.975, P = 0.046), while BMI ( OR = 1.174, 95% CI 0.986-1.398, P = 0.071) and pathological type (benign or borderline vs. malignant tumor: OR = 0.247, 95% CI 0.043-1.419, P = 0.117) were not independent influencing factors for postoperative severe complications. Conclusions:Short-term biliary drainage (≤14 d) is a risk factor for postoperative severe complications in patients with hepatopancreatic ductal periampullary tumor undergoing preoperative biliary drainage. Preoperative biliary drainage time is not associated with postoperative total complications, pancreatic leakage, bile leakage, abdominal or gastrointestinal bleeding, intra-abdominal infection, delayed gastric emptying.

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