1.Integrated Transcriptomic Landscape and Deep Learning Based Survival Prediction in Uterine Sarcomas
Yaolin SONG ; Guangqi LI ; Zhenqi ZHANG ; Yinbo LIU ; Huiqing JIA ; Chao ZHANG ; Jigang WANG ; Yanjiao HU ; Fengyun HAO ; Xianglan LIU ; Yunxia XIE ; Ding MA ; Ganghua LI ; Zaixian TAI ; Xiaoming XING
Cancer Research and Treatment 2025;57(1):250-266
Purpose:
The genomic characteristics of uterine sarcomas have not been fully elucidated. This study aimed to explore the genomic landscape of the uterine sarcomas (USs).
Materials and Methods:
Comprehensive genomic analysis through RNA-sequencing was conducted. Gene fusion, differentially expressed genes (DEGs), signaling pathway enrichment, immune cell infiltration, and prognosis were analyzed. A deep learning model was constructed to predict the survival of US patients.
Results:
A total of 71 US samples were examined, including 47 endometrial stromal sarcomas (ESS), 18 uterine leiomyosarcomas (uLMS), three adenosarcomas, two carcinosarcomas, and one uterine tumor resembling an ovarian sex-cord tumor. ESS (including high-grade ESS [HGESS] and low-grade ESS [LGESS]) and uLMS showed distinct gene fusion signatures; a novel gene fusion site, MRPS18A–PDC-AS1 could be a potential diagnostic marker for the pathology differential diagnosis of uLMS and ESS; 797 and 477 uterine sarcoma DEGs (uDEGs) were identified in the ESS vs. uLMS and HGESS vs. LGESS groups, respectively. The uDEGs were enriched in multiple pathways. Fifteen genes including LAMB4 were confirmed with prognostic value in USs; immune infiltration analysis revealed the prognositic value of myeloid dendritic cells, plasmacytoid dendritic cells, natural killer cells, macrophage M1, monocytes and hematopoietic stem cells in USs; the deep learning model named Max-Mean Non-Local multi-instance learning (MMN-MIL) showed satisfactory performance in predicting the survival of US patients, with the area under the receiver operating curve curve reached 0.909 and accuracy achieved 0.804.
Conclusion
USs harbored distinct gene fusion characteristics and gene expression features between HGESS, LGESS, and uLMS. The MMN-MIL model could effectively predict the survival of US patients.
2.Integrated Transcriptomic Landscape and Deep Learning Based Survival Prediction in Uterine Sarcomas
Yaolin SONG ; Guangqi LI ; Zhenqi ZHANG ; Yinbo LIU ; Huiqing JIA ; Chao ZHANG ; Jigang WANG ; Yanjiao HU ; Fengyun HAO ; Xianglan LIU ; Yunxia XIE ; Ding MA ; Ganghua LI ; Zaixian TAI ; Xiaoming XING
Cancer Research and Treatment 2025;57(1):250-266
Purpose:
The genomic characteristics of uterine sarcomas have not been fully elucidated. This study aimed to explore the genomic landscape of the uterine sarcomas (USs).
Materials and Methods:
Comprehensive genomic analysis through RNA-sequencing was conducted. Gene fusion, differentially expressed genes (DEGs), signaling pathway enrichment, immune cell infiltration, and prognosis were analyzed. A deep learning model was constructed to predict the survival of US patients.
Results:
A total of 71 US samples were examined, including 47 endometrial stromal sarcomas (ESS), 18 uterine leiomyosarcomas (uLMS), three adenosarcomas, two carcinosarcomas, and one uterine tumor resembling an ovarian sex-cord tumor. ESS (including high-grade ESS [HGESS] and low-grade ESS [LGESS]) and uLMS showed distinct gene fusion signatures; a novel gene fusion site, MRPS18A–PDC-AS1 could be a potential diagnostic marker for the pathology differential diagnosis of uLMS and ESS; 797 and 477 uterine sarcoma DEGs (uDEGs) were identified in the ESS vs. uLMS and HGESS vs. LGESS groups, respectively. The uDEGs were enriched in multiple pathways. Fifteen genes including LAMB4 were confirmed with prognostic value in USs; immune infiltration analysis revealed the prognositic value of myeloid dendritic cells, plasmacytoid dendritic cells, natural killer cells, macrophage M1, monocytes and hematopoietic stem cells in USs; the deep learning model named Max-Mean Non-Local multi-instance learning (MMN-MIL) showed satisfactory performance in predicting the survival of US patients, with the area under the receiver operating curve curve reached 0.909 and accuracy achieved 0.804.
Conclusion
USs harbored distinct gene fusion characteristics and gene expression features between HGESS, LGESS, and uLMS. The MMN-MIL model could effectively predict the survival of US patients.
3.Integrated Transcriptomic Landscape and Deep Learning Based Survival Prediction in Uterine Sarcomas
Yaolin SONG ; Guangqi LI ; Zhenqi ZHANG ; Yinbo LIU ; Huiqing JIA ; Chao ZHANG ; Jigang WANG ; Yanjiao HU ; Fengyun HAO ; Xianglan LIU ; Yunxia XIE ; Ding MA ; Ganghua LI ; Zaixian TAI ; Xiaoming XING
Cancer Research and Treatment 2025;57(1):250-266
Purpose:
The genomic characteristics of uterine sarcomas have not been fully elucidated. This study aimed to explore the genomic landscape of the uterine sarcomas (USs).
Materials and Methods:
Comprehensive genomic analysis through RNA-sequencing was conducted. Gene fusion, differentially expressed genes (DEGs), signaling pathway enrichment, immune cell infiltration, and prognosis were analyzed. A deep learning model was constructed to predict the survival of US patients.
Results:
A total of 71 US samples were examined, including 47 endometrial stromal sarcomas (ESS), 18 uterine leiomyosarcomas (uLMS), three adenosarcomas, two carcinosarcomas, and one uterine tumor resembling an ovarian sex-cord tumor. ESS (including high-grade ESS [HGESS] and low-grade ESS [LGESS]) and uLMS showed distinct gene fusion signatures; a novel gene fusion site, MRPS18A–PDC-AS1 could be a potential diagnostic marker for the pathology differential diagnosis of uLMS and ESS; 797 and 477 uterine sarcoma DEGs (uDEGs) were identified in the ESS vs. uLMS and HGESS vs. LGESS groups, respectively. The uDEGs were enriched in multiple pathways. Fifteen genes including LAMB4 were confirmed with prognostic value in USs; immune infiltration analysis revealed the prognositic value of myeloid dendritic cells, plasmacytoid dendritic cells, natural killer cells, macrophage M1, monocytes and hematopoietic stem cells in USs; the deep learning model named Max-Mean Non-Local multi-instance learning (MMN-MIL) showed satisfactory performance in predicting the survival of US patients, with the area under the receiver operating curve curve reached 0.909 and accuracy achieved 0.804.
Conclusion
USs harbored distinct gene fusion characteristics and gene expression features between HGESS, LGESS, and uLMS. The MMN-MIL model could effectively predict the survival of US patients.
4.Analyzing the influencing factors of work-related musculoskeletal disorders in passenger drivers
Xinyang YU ; Yingfei XIANG ; Yonglin LUO ; Meifang XU ; Xiao YIN ; Min YANG ; Huiqing CHEN ; Shijie HU
China Occupational Medicine 2025;52(2):155-159
Objective To investigate the prevalence of work-related musculoskeletal disorders (WMSDs) in passenger drivers and its influencing factors. Methods A total of 951 passenger drivers in Guangdong Province were selected as the research subjects using the judgmental sampling method. A Musculoskeletal Injury Questionnaire was employed to assess the prevalence of WMSDs in the past year. Results The prevalence of WMSDs in passenger drivers was 41.11%. The result of multivariable logistic regression analysis showed that married drivers had a higher risk of WMSDs than single drivers (P<0.05). The lower the frequency of physical exercise, the longer the driving time per week, the longer the continuous driving time, the more restricted the driving working space, the poorer the foot comfort during driving, and the more affected the normal meal, the higher the risk of WMSDs (all P<0.05). The risk of WMSDs in drivers with sleep time ≤ 8.0 h/d was higher than that in drivers with sleep time > 8.0 h/d (P<0.01), and the risk of WMSDs in drivers with the same posture for a long time on the shoulder was higher than that in drivers without this poor working posture (P<0.01). Conclusion WMSDs were prevalent among passenger drivers, which was associated with demographic and adverse ergonomic factors. Intervention on lifestyle and adverse ergonomic factors could further reduce the risk of WMSDs of passenger drivers.
5.Safety of teriflunomide in Chinese adult patients with relapsing multiple sclerosis: A phase IV, 24-week multicenter study.
Chao QUAN ; Hongyu ZHOU ; Huan YANG ; Zheng JIAO ; Meini ZHANG ; Baorong ZHANG ; Guojun TAN ; Bitao BU ; Tao JIN ; Chunyang LI ; Qun XUE ; Huiqing DONG ; Fudong SHI ; Xinyue QIN ; Xinghu ZHANG ; Feng GAO ; Hua ZHANG ; Jiawei WANG ; Xueqiang HU ; Yueting CHEN ; Jue LIU ; Wei QIU
Chinese Medical Journal 2025;138(4):452-458
BACKGROUND:
Disease-modifying therapies have been approved for the treatment of relapsing multiple sclerosis (RMS). The present study aims to examine the safety of teriflunomide in Chinese patients with RMS.
METHODS:
This non-randomized, multi-center, 24-week, prospective study enrolled RMS patients with variant (c.421C>A) or wild type ABCG2 who received once-daily oral teriflunomide 14 mg. The primary endpoint was the relationship between ABCG2 polymorphisms and teriflunomide exposure over 24 weeks. Safety was assessed over the 24-week treatment with teriflunomide.
RESULTS:
Eighty-two patients were assigned to variant ( n = 42) and wild type groups ( n = 40), respectively. Geometric mean and geometric standard deviation (SD) of pre-dose concentration (variant, 54.9 [38.0] μg/mL; wild type, 49.1 [32.0] μg/mL) and area under plasma concentration-time curve over a dosing interval (AUC tau ) (variant, 1731.3 [769.0] μg∙h/mL; wild type, 1564.5 [1053.0] μg∙h/mL) values at steady state were approximately similar between the two groups. Safety profile was similar and well tolerated across variant and wild type groups in terms of rates of treatment emergent adverse events (TEAE), treatment-related TEAE, grade ≥3 TEAE, and serious adverse events (AEs). No new specific safety concerns or deaths were reported in the study.
CONCLUSION:
ABCG2 polymorphisms did not affect the steady-state exposure of teriflunomide, suggesting a similar efficacy and safety profile between variant and wild type RMS patients.
REGISTRATION
NCT04410965, https://clinicaltrials.gov .
Humans
;
Crotonates/adverse effects*
;
Toluidines/adverse effects*
;
Nitriles
;
Hydroxybutyrates
;
Female
;
Male
;
Adult
;
ATP Binding Cassette Transporter, Subfamily G, Member 2/genetics*
;
Middle Aged
;
Multiple Sclerosis, Relapsing-Remitting/genetics*
;
Prospective Studies
;
Young Adult
;
Neoplasm Proteins/genetics*
;
East Asian People
6.Clinical characteristics of eosinophilic lung diseases in children
Xiaolei XU ; Ju YIN ; Jun LIU ; Xiuyun LIU ; Yinghui HU ; Huiqing SHEN ; Guoli WANG ; Jing ZHANG ; Rui ZHANG ; Yan SU ; Runhui WU ; Baoping XU
Chinese Journal of Applied Clinical Pediatrics 2024;39(6):433-439
Objective:To analyze the clinical characteristics of eosinophilic lung diseases(ELD) in children to enhance pediatricians′ understanding of ELD.Methods:In this retrospective cross-sectional study, a total of 149 children with ELD were recruited from Beijing Children′s Hospital, Capital Medical University between April 1, 2007 and March 31, 2022.Chi-square test, Fisher′s exact test, Mann-Whitney U test and Kruskal-Wallis test were used to analyze data and conclude clinical characteristics.Spearman correlation was used to analyze the correlation between eosinophils in peripheral blood and bronchoalveolar lavage fluid.Chi-square test and Kappa consistency test were used to compare the differences and consistency in diagnostic results between bronchoalveolar lavage fluid or lung biopsy and eosinophil elevation with chest imaging abnormalities. Results:(1)The isolated lung involvement was mostly caused by allergic bronchopulmonary aspergillosis(9 patients), and other system involvement by idiopathic hypereosinophilic syndrome(89 patients).(2)The main respiratory manifestations included coughing(90 cases, 60.4%) and expectoration(41 cases, 27.5%), while 23.5%(35 cases) of patients had no respiratory symptoms; 50.3% had digestive system involvement, and 40.9% had skin involvement.These were the two most commonly affected organs.(3)Spearman correlation was performed between eosinophils in peripheral blood and bronchoalveolar lavage fluid( r=0.3, P<0.05).Chi-square test was performed to compare ELD diagnosed by bronchoalveolar lavage fluid or lung biopsy with peripheral blood eosinophilia accompanied by abnormal chest imaging( P<0.05).Kappa consistency test(Kappa<0.2) showed poor consistency between the two diagnostic methods. Conclusions:ELD are present in children, and multiple etiologies may be pathogenic.Among children with ELD, the isolated lung involvement is mainly caused by allergic bronchopulmonary aspergillosis.The digestive system and skin are the most commonly affected organs, except for lungs.The correlation between eosinophil levels in peripheral blood and bronchoalveolar lavage fluid is poor.
7.Analysis of current situation and risk factors of primary nocturnal enuresis in adolescents
Guangrun TIAN ; Ke ZHANG ; Huijie HU ; Yu LIANG ; Qifeng DOU ; Huiqing ZHANG ; Jianguo WEN
Journal of Modern Urology 2023;28(4):292-296
【Objective】 To investigate the prevalence and risk factors of primary nocturnal enuresis (PNE) in adolescents, and to explore its psychological effects. 【Methods】 During Sep.2020 and Dec.2020, an epidemiological survey was conducted among 6 408 junior and senior high school students in a region of Henan Province by stratified and cluster random sampling. The survey included general information questionnaire, urinary frequency, urgency, incontinence, recurrent urinary tract infection (RUTI), Enuresis Questionnaire, Self-esteem Scale (SES) and the Pittsburgh Sleep Quality Index (PSQI). 【Results】 A total of 7, 000 questionnaires were distributed and 6 408 (91.54%) were valid. The survey showed that the total prevalence of PNE among adolescents was 2.98%. The prevalence was 4.67% in those aged 12 years and 1.37% in those aged 18 years. The results of Logistic regression analysis showed that male (OR=1.677, P<0.05), overweight (OR=1.842, P<0.05), urgency (OR=1.676, P<0.05), frequency (OR=1.919, P<0.05), incontinence (OR=3.493, P<0.001), RUTI (OR=2.535, P<0.001) and family history (OR=3.005, P<0.001) were related to the risk of PNE. The SES score of PNE patients was lower than that of non-PNE group (z=-3.097, P<0.05), and the PSQI was higher (z=-5.456, P<0.05). 【Conclusion】 The prevalence of PNE is high in adolescents and decreases gradually with age. Male, overweight, frequency, urgency, incontinence, RUTI and family history are risk factors. PNE has a negative impact on self-esteem and sleep quality in adolescents.
8.Analysis of serum allergen-specific IgE in children with respiratory allergic disease in Guangdong
Chenxi LIAO ; Dongming HUANG ; Haisheng HU ; Wenting LUO ; Liting WU ; Huiqing ZHU ; Baoqing SUN
Chinese Journal of Preventive Medicine 2021;55(5):613-619
Objective:To investigate the common allergens in children with respiratory allergic diseases in Guangdong and provide the basis for preventing and treating respiratory allergic diseases.Methods:A total of 254 serum samples were collected retrospectively from children with allergic rhinitis and (or) asthma in the pediatric clinic of the First Affiliated Hospital of Guangzhou Medical University or Boai Hospital of Zhongshan City from August 2019 to August 2020 and tested positive for at least one allergens by ImmunoCAP 1000 or skin prick test. There were 173 males and 81 females, with a median age (interquartile interval) of 7 (4.00, 9.75) years. Specific IgE against eighteen common allergen were tested by magnetic particle chemiluminescence immunoassay. Statistical analysis using χ 2 test. Results:The positive rate of Dermatophagoides pteronyssinus (85.0%, 215/254) was the highest, followed by D. farinae (83.5%, 212/254), egg white (19.3%, 49/254), milk (14.6%, 37/254), German cockroach (14.2%, 36/254) and ox-eye daisy (12.6%, 32/254). Dust mites were the most common allergens in patients with allergic rhinitis / allergic asthma / allergic rhinitis and asthma. The positive rates of D. pteronyssinus (95.4% vs. 91.7% vs. 71.0%, χ 2=23.257, P<0.001), D. farinae (95.4% vs. 90.6% vs. 67.7%, χ 2=26.916, P<0.001), mugwort (10.8% vs. 9.4% vs. 1.1%, χ 2=7.535, P=0.023), and ox-eye daisy (21.5% vs. 14.6% vs. 4.3%, χ 2=10.876, P=0.004) in allergic rhinitis combined with asthma group and allergic rhinitis group were significantly higher than those in allergic rhinitis group. The positive rates of D. pteronyssinus (96.2% vs. 84.0% vs. 53.5%, χ 2=46.343, P<0.001), D. farinae (96.2% vs. 81.5% vs. 48.8%, χ 2=52.756, P<0.001) and German cockroach (17.7% vs. 14.8% vs. 2.3%, χ 2=6.313, P=0.043) in > 6 years old group were significantly higher than those in > 3 years old group and > 3-6 years old group, while the sIgE positive rates of egg white (41.9% vs. 21.0% vs. 10.8%, χ 2=20.281, P<0.001) and milk (41.9% vs. 16.0% vs. 4.6%, χ 2=36.227, P<0.001) in ≤3 years old group were significantly higher than those in > 3-6 years old group and > 6 years old group. In addition, there were significant positive correlations between D. pteronyssinus and D. farinae, mugwort and ox-eye daisy, cat dander and horse dander, ox-eye daisy and dandelion, egg white and milk, timothy grass and sesame ( r s≥0.511, P < 0.01). With the increase of the class of house dust mite allergen, the sIgE positive rates of mugwort (0.0% vs. 1.5% vs. 10.8%, χ 2=9.714, P=0.008), ox-eye daisy (0.0% vs. 4.4% vs. 19.6%, χ 2=16.195, P<0.001), cat dander (0.0% vs. 7.4% vs. 18.2%, χ 2=11.459, P=0.003) and horse dander (0.0% vs. 1.5% vs. 15.5%, χ 2=15.443, P < 0.001) increased significantly, while the sIgE positive rate of milk (29.0% vs. 16.2% vs. 10.1%, χ 2=8.792, P=0.012) decreased significantly. Conclusions:Dust mite is the main allergen in children with respiratory allergic diseases in Guangdong, and ox-eye daisy is the main pollen allergen. The sensitization patterns of allergens varied in different ages and diseases, and children with respiratory allergic diseases should regularly detect allergens and pay attention to avoid them.
9.Research on allergen detection technology and allergic disease diagnosis strategy in China
Wenting LUO ; Chenxi LIAO ; Liting WU ; Zhifeng HUANG ; Haisheng HU ; Huiqing ZHU ; Baoqing SUN
Chinese Journal of Preventive Medicine 2021;55(9):1043-1050
In China, the prevalence of allergic diseases is increasing, but allergy research and allergy diagnosis technologies are still in their infancy, posing certain hurdles to clinical diagnosis and treatment. The detection of allergen is essential for the prevention and treatment of allergic diseases. Clarifying the aetiology and risk factors of allergic diseases is critical in order to provide targeted environmental control and therapy for allergic diseases, as well as reduce patient pain and financial burden. In this study, allergen detection technologies and diagnosis strategies are described in order to provide direction for clinicians and laboratory technicians, improve allergic diseases diagnosis, and guide allergic disease therapy.
10.Analysis of serum allergen-specific IgE in children with respiratory allergic disease in Guangdong
Chenxi LIAO ; Dongming HUANG ; Haisheng HU ; Wenting LUO ; Liting WU ; Huiqing ZHU ; Baoqing SUN
Chinese Journal of Preventive Medicine 2021;55(5):613-619
Objective:To investigate the common allergens in children with respiratory allergic diseases in Guangdong and provide the basis for preventing and treating respiratory allergic diseases.Methods:A total of 254 serum samples were collected retrospectively from children with allergic rhinitis and (or) asthma in the pediatric clinic of the First Affiliated Hospital of Guangzhou Medical University or Boai Hospital of Zhongshan City from August 2019 to August 2020 and tested positive for at least one allergens by ImmunoCAP 1000 or skin prick test. There were 173 males and 81 females, with a median age (interquartile interval) of 7 (4.00, 9.75) years. Specific IgE against eighteen common allergen were tested by magnetic particle chemiluminescence immunoassay. Statistical analysis using χ 2 test. Results:The positive rate of Dermatophagoides pteronyssinus (85.0%, 215/254) was the highest, followed by D. farinae (83.5%, 212/254), egg white (19.3%, 49/254), milk (14.6%, 37/254), German cockroach (14.2%, 36/254) and ox-eye daisy (12.6%, 32/254). Dust mites were the most common allergens in patients with allergic rhinitis / allergic asthma / allergic rhinitis and asthma. The positive rates of D. pteronyssinus (95.4% vs. 91.7% vs. 71.0%, χ 2=23.257, P<0.001), D. farinae (95.4% vs. 90.6% vs. 67.7%, χ 2=26.916, P<0.001), mugwort (10.8% vs. 9.4% vs. 1.1%, χ 2=7.535, P=0.023), and ox-eye daisy (21.5% vs. 14.6% vs. 4.3%, χ 2=10.876, P=0.004) in allergic rhinitis combined with asthma group and allergic rhinitis group were significantly higher than those in allergic rhinitis group. The positive rates of D. pteronyssinus (96.2% vs. 84.0% vs. 53.5%, χ 2=46.343, P<0.001), D. farinae (96.2% vs. 81.5% vs. 48.8%, χ 2=52.756, P<0.001) and German cockroach (17.7% vs. 14.8% vs. 2.3%, χ 2=6.313, P=0.043) in > 6 years old group were significantly higher than those in > 3 years old group and > 3-6 years old group, while the sIgE positive rates of egg white (41.9% vs. 21.0% vs. 10.8%, χ 2=20.281, P<0.001) and milk (41.9% vs. 16.0% vs. 4.6%, χ 2=36.227, P<0.001) in ≤3 years old group were significantly higher than those in > 3-6 years old group and > 6 years old group. In addition, there were significant positive correlations between D. pteronyssinus and D. farinae, mugwort and ox-eye daisy, cat dander and horse dander, ox-eye daisy and dandelion, egg white and milk, timothy grass and sesame ( r s≥0.511, P < 0.01). With the increase of the class of house dust mite allergen, the sIgE positive rates of mugwort (0.0% vs. 1.5% vs. 10.8%, χ 2=9.714, P=0.008), ox-eye daisy (0.0% vs. 4.4% vs. 19.6%, χ 2=16.195, P<0.001), cat dander (0.0% vs. 7.4% vs. 18.2%, χ 2=11.459, P=0.003) and horse dander (0.0% vs. 1.5% vs. 15.5%, χ 2=15.443, P < 0.001) increased significantly, while the sIgE positive rate of milk (29.0% vs. 16.2% vs. 10.1%, χ 2=8.792, P=0.012) decreased significantly. Conclusions:Dust mite is the main allergen in children with respiratory allergic diseases in Guangdong, and ox-eye daisy is the main pollen allergen. The sensitization patterns of allergens varied in different ages and diseases, and children with respiratory allergic diseases should regularly detect allergens and pay attention to avoid them.

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