1.Exploring on Processing Mechanism of Enhanced "Invigorating Spleen and Stopping Diarrhea" Effect of Soil-fried Atractylodis Macrocephalae Rhizoma Based on "Microscopic Characterization, Chemical Analysis and Pharmacodynamic Evaluation" Trinity
Guoshun SHAN ; Yuyan XIAO ; Chu YUAN ; Xiuai CHEN ; Qimiao ZHAO ; Xiang LIU ; Hao WU ; Ke ZHANG ; Siqi LIU ; Yongduo YU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(8):182-193
ObjectiveTo analyze the processing mechanism underlying the enhanced effect of invigorating spleen and stopping diarrhea of soil-fried Atractylodis Macrocephalae Rhizoma(AMR) by analyzing the changes of microstructure, chemical composition and anti-ulcerative colitis(UC) activity before and after soil stir-frying. MethodsThe microstructure and elemental composition of AMR before and after soil stir-frying were analyzed by scanning electron microscopy-energy dispersive spectroscopy(SEM-EDS), to investigate the differences in microstructure and the underlying causes. Ultra-high performance liquid chromatography-quadrupole-time-of-flight mass spectrometry(UPLC-Q-TOF-MS) coupled with UNIFI 1.9.2 natural product analysis platform were used to analyze and identify the chemical constituents in raw and soil-fried products, and multivariate statistical methods including principal component analysis(PCA) and orthogonal partial least squares-discriminant analysis(OPLS-DA) were used to explore the differences and sources of chemical constituents between them. A dextran sulfate sodium(DSS)-induced UC mouse model was established. The method of disease activity index(DAI) was used to evaluate the severity of intestinal inflammation. Hematoxylin-eosin(HE) staining was used to observe the pathological changes of colon tissue, enzyme-linked immunosorbent assay(ELISA) was used to detect the levels of inflammatory factors, Real-time quantitative polymerase chain reaction(Real-time PCR) and Western blot were used to analyze the expressions of key genes and proteins involved in the intestinal mucosal barrier. The 16S rRNA sequencing was used to evaluate the diversity of intestinal flora, headspace gas chromatography-mass spectrometry(HS-GC-MS) was used to explore the levels of short-chain fatty acids(SCFAs) in feces. Base on the above findings, this paper investigated the effects of raw and soil-fried AMR on the biological, chemical, mechanical and immune barriers of model animals, and the differences in pharmacological effects and underlying mechanisms from the perspective of regulating the intestinal mucosal barrier in UC mice. ResultsSEM observation revealed numerous hearth soil particles on the surface of soil-fried AMR, accompanied by bubble-like bulges. At the same time, there were many cracks and folds on the surface of the hearth soil. EDS analysis revealed that the contents of Si, Al, Mg and Ca in soil-fried AMR were significantly higher than those of raw products, and these elements constituted the primary components of hearth soil. UPLC-Q-TOF-MS combined with database comparison was used to identify the chemical constituents of raw and soil-fried AMR. In positive ion mode, a total of 132 components were identified, primarily comprising three categories of terpenoids, polyphenols and amino acids. In negative ion mode, a total of 40 components were identified, primarily polyphenolic and glycoside compounds. Among them, the contents of sesquiterpenes and polyphenolic acids were changed significantly before and after processing. Soil-fried AMR could reduce the DAI score of UC mice, alleviate the shortening of colon length, reduce the levels of pro-inflammatory factors such as interleukin(IL)-17, IL-18, γ-interferon(IFN-γ) and tumor necrosis factor(TNF)-α in serum, increase the levels of anti-inflammatory factors such as secretory immunoglobulin A(sIgA), IL-10, IL-4 and transforming growth factor-β(TGF-β) in serum, increase the expressions of key genes and proteins of intestinal mucosal barrier such as tight junction protein-1(ZO-1), Occludin, Claudin-1 and mucin 2(MUC2) in colonic mucosa, and improve the disorders of intestinal flora diversity and the levels of SCFAs(P<0.05, P<0.01). The raw and stir-fried products of AMR also exhibited the aforementioned effects, but they were weaker than the soil-fried products. Additionally, the auxiliary material hearth soil also had a certain pharmacodynamic effect. ConclusionSoil-fried AMR can enhance the protective effect on intestinal mucosal barrier in UC mice. These changes or heating-induced alterations in the microscopic structure and chemical composition of AMR may be attributed to the dual effects of adsorption of hearth soil.
2.Exploring on Processing Mechanism of Enhanced "Invigorating Spleen and Stopping Diarrhea" Effect of Soil-fried Atractylodis Macrocephalae Rhizoma Based on "Microscopic Characterization, Chemical Analysis and Pharmacodynamic Evaluation" Trinity
Guoshun SHAN ; Yuyan XIAO ; Chu YUAN ; Xiuai CHEN ; Qimiao ZHAO ; Xiang LIU ; Hao WU ; Ke ZHANG ; Siqi LIU ; Yongduo YU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(8):182-193
ObjectiveTo analyze the processing mechanism underlying the enhanced effect of invigorating spleen and stopping diarrhea of soil-fried Atractylodis Macrocephalae Rhizoma(AMR) by analyzing the changes of microstructure, chemical composition and anti-ulcerative colitis(UC) activity before and after soil stir-frying. MethodsThe microstructure and elemental composition of AMR before and after soil stir-frying were analyzed by scanning electron microscopy-energy dispersive spectroscopy(SEM-EDS), to investigate the differences in microstructure and the underlying causes. Ultra-high performance liquid chromatography-quadrupole-time-of-flight mass spectrometry(UPLC-Q-TOF-MS) coupled with UNIFI 1.9.2 natural product analysis platform were used to analyze and identify the chemical constituents in raw and soil-fried products, and multivariate statistical methods including principal component analysis(PCA) and orthogonal partial least squares-discriminant analysis(OPLS-DA) were used to explore the differences and sources of chemical constituents between them. A dextran sulfate sodium(DSS)-induced UC mouse model was established. The method of disease activity index(DAI) was used to evaluate the severity of intestinal inflammation. Hematoxylin-eosin(HE) staining was used to observe the pathological changes of colon tissue, enzyme-linked immunosorbent assay(ELISA) was used to detect the levels of inflammatory factors, Real-time quantitative polymerase chain reaction(Real-time PCR) and Western blot were used to analyze the expressions of key genes and proteins involved in the intestinal mucosal barrier. The 16S rRNA sequencing was used to evaluate the diversity of intestinal flora, headspace gas chromatography-mass spectrometry(HS-GC-MS) was used to explore the levels of short-chain fatty acids(SCFAs) in feces. Base on the above findings, this paper investigated the effects of raw and soil-fried AMR on the biological, chemical, mechanical and immune barriers of model animals, and the differences in pharmacological effects and underlying mechanisms from the perspective of regulating the intestinal mucosal barrier in UC mice. ResultsSEM observation revealed numerous hearth soil particles on the surface of soil-fried AMR, accompanied by bubble-like bulges. At the same time, there were many cracks and folds on the surface of the hearth soil. EDS analysis revealed that the contents of Si, Al, Mg and Ca in soil-fried AMR were significantly higher than those of raw products, and these elements constituted the primary components of hearth soil. UPLC-Q-TOF-MS combined with database comparison was used to identify the chemical constituents of raw and soil-fried AMR. In positive ion mode, a total of 132 components were identified, primarily comprising three categories of terpenoids, polyphenols and amino acids. In negative ion mode, a total of 40 components were identified, primarily polyphenolic and glycoside compounds. Among them, the contents of sesquiterpenes and polyphenolic acids were changed significantly before and after processing. Soil-fried AMR could reduce the DAI score of UC mice, alleviate the shortening of colon length, reduce the levels of pro-inflammatory factors such as interleukin(IL)-17, IL-18, γ-interferon(IFN-γ) and tumor necrosis factor(TNF)-α in serum, increase the levels of anti-inflammatory factors such as secretory immunoglobulin A(sIgA), IL-10, IL-4 and transforming growth factor-β(TGF-β) in serum, increase the expressions of key genes and proteins of intestinal mucosal barrier such as tight junction protein-1(ZO-1), Occludin, Claudin-1 and mucin 2(MUC2) in colonic mucosa, and improve the disorders of intestinal flora diversity and the levels of SCFAs(P<0.05, P<0.01). The raw and stir-fried products of AMR also exhibited the aforementioned effects, but they were weaker than the soil-fried products. Additionally, the auxiliary material hearth soil also had a certain pharmacodynamic effect. ConclusionSoil-fried AMR can enhance the protective effect on intestinal mucosal barrier in UC mice. These changes or heating-induced alterations in the microscopic structure and chemical composition of AMR may be attributed to the dual effects of adsorption of hearth soil.
3.Integrated evidence chain (Eff-iEC) based effectiveness evaluation of a multifunctional traditional Chinese medicine formula: Taking Xiaoyao San as an example
Caiping HE ; Ye LUO ; Zhiqi LI ; Haocheng YANG ; Lu LIU ; Yingjie XU ; Xiaoyan CHEN ; Siqi HUANG ; Jincai WEN ; Xiaoyan ZHAN ; Zhaofang BAI ; Xu ZHAO ; Xiaohe XIAO
Science of Traditional Chinese Medicine 2026;4(1):96-103
The study focuses on the concept of multifunctional traditional Chinese medicine (TCM) formulas and aims to evaluate the efficacy of the classical formula Xiaoyao San (逍遥散). Study employs the integrated evidence chain (Eff-iEC) method to organize, integrate, and evaluate its therapeutic efficacy in treating different diseases with the same therapy, and to investigate the feasibility of using Eff-iEC to evaluate the multifunctionality of TCM formulas. The evaluation covered Xiaoyao San's therapeutic effects on depression, premenstrual syndrome, chronic hepatitis, irritable bowel syndrome, dyspepsia, and menopausal syndrome. Concurrently, the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system was used for evaluation, and authoritative medical documents were incorporated to corroborate the recognition of Xiaoyao San within the medical community. Depression and menopausal syndrome received higher ratings than other conditions in the Eff-iEC, GRADE, and Medical Community Recognition assessments. The Eff-iEC evidence grade for Xiaoyao San was rated as "High" or above for chronic hepatitis, irritable bowel syndrome, dyspepsia, and menopausal syndrome. Premenstrual syndrome received a "Moderate +" rating. The GRADE evidence level was "Low-〇〇⨁⨁" for depression, premenstrual syndrome, and chronic hepatitis; "Moderate-〇⨁⨁⨁" for dyspepsia and menopausal syndrome; and "Very Low-〇〇〇⨁" for irritable bowel syndrome. Depression and menopausal syndrome had the highest inclusion frequency, appearing in all 4 categories. Premenstrual syndrome, chronic hepatitis, and dyspepsia are not recommended in Western medical guidelines, but they are included in TCM guidelines, the China National Basic Medical Insurance Drug List, and the China National Essential Drug List. Irritable bowel syndrome appears only in the China National Basic Medical Insurance Drug List and China National Essential Drug List. The evaluation results obtained using the Eff-iEC method align with Medical Community Recognition, providing an objective and comprehensive assessment of Xiaoyao San's efficacy. The findings suggest that Xiaoyao San has strong evidence for treating depression and menopausal syndrome. However, further experimental and clinical trials are needed to assess its efficacy in treating premenstrual syndrome, chronic hepatitis, irritable bowel syndrome, and dyspepsia. These results support the clinical efficacy and rational use of Xiaoyao San, expand the application scope of the Eff-iEC method, and offer valuable insights and methodological references for the comparative evaluation of multifunctional TCM formulas.
4.Surveillance of Oncomelania hupensis snails following interruption of schistosomiasis transmission in Yunnan Province
Siqi NING ; Yi DONG ; Chunhong DU ; Lifang WANG ; Yun ZHANG ; Yuhe HE ; Hua JIANG ; Jiayu SUN ; Chunqiong CHEN ; Jiaqi YAN ; Jihua ZHOU ; Zongya ZHANG ; Hongqiong WANG ; Meifen SHEN ; Jing SONG
Chinese Journal of Schistosomiasis Control 2026;38(2):200-206
Objective To investigate the distribution characteristics of Oncomelania hupensis snails in Yunnan Province fol-lowing interruption of schistosomiasis transmission, so as to provide the evidence for assessing the risk of schistosomiasis transmission and scientifically formulating the schistosomiasis surveillance program. Methods According to the requirements of the National Schistosomiasis Surveillance Scheme (2020 Edition), O. hupensis snail surveillance data were collected from 18 schistosomiasis-endemic counties (cities, districts) in Yunnan Province from 2020 to 2024, including area of snail survey, area of snail habitats, area of re-emerging snail habitats, number of frames surveyed, number of frames with O. hupensis snails, number of O. hupensis snails captured, and number of living snails, and the occurrence of frames with snails and mean density of living snails were calculated. Changes in snail status over the 5-year period from 2020 to 2024 and the differences in snail distributions specified by epidemic intensity, environmental type, and vegetation type were analyzed. Results The areas of snail survey increased from 1 727.96 hm2 in 2020 to 3 894.45 hm2 in 2024 (peak) across 18 schistosomiasis-endemic counties (cities, districts) in Yunnan Province during the period from 2020 through 2024. The areas of snail habitats increased from 70.36 hm2 in 2020 to a peak in 2023 (172.04 hm2), followed by a reduction to 132.36 hm2 in 2024, and the areas of re-emerging snail habitats increased from 42.71 hm2 in 2020 to a peak in 2022 (78.43 hm2), followed by a reduction to 40.21 hm2 in 2024. The occurrence of frames with snails and mean density of living snails increased from 1.24% (3 025/244 404) and (0.033 2 ± 0.038 7) snails/0.1 m2 in 2020 to peaks at 2.03% (6 231/307 563) and (0.066 9 ± 0.068 4) snails/0.1 m2 in 2023, followed by reductions to 1.04% (5 829/559 941) and (0.032 6 ± 0.057 7) snails/0.1 m2 in 2024, respectively. There was a significant difference in the occurrence of frames with snails over the 5-year study period (χ2 = 1 962.95, P < 0.05), and the occurrence of frames with snails reduced by 48.71% in 2024 relative to in 2023 (χ2 = 1 411.05, P < 0.005); however, there was no significant difference in the mean density of living snails over the 5 years (H = 5.310, P > 0.05). There were significant differences in the occurrence of frames with snails (χ2 = 481.27, P < 0.05) and mean density of living snails (H = 6.872, P < 0.05) in schistosomiasis-endemic areas with different epidemic intensities. The occurrence of frames with snails (χ2 = 25.32 and 38.70, both P values < 0.017) and mean density of living snails (Z = 28.55 and 49.96, both P values < 0.017) were higher in schistosomiasis transmission-interrupted and eliminated areas with snails than in schistosomiasis-eliminated areas without snails, and the occurrence of frames with snails (χ2 = 453.54, P < 0.017) and mean density of living snails (Z = −56.97, P < 0.017) were higher in schistosomiasis-eliminated areas with snails than in schistosomiasis transmission-interrupted areas with snails. O. hupensis snails were mainly distributed in paddy fields, dry farmlands and ditches; however, the occurrence of frames with snails (13.40%, 424/3 164) and mean density of living snails [(0.252 8 ± 0.158 7) snails/0.1 m2] were higher in ponds/weirs than in other types of environments (both P values < 0.05). Rice, dry farmland crops and weeds were main vegetations in which O. hupensis snails were distributed, and the occurrence of frames with snails (2.29%, 7 111/310 140) and mean density of living snails [(0.072 3 ± 0.018 9) snails/0.1 m2] were higher in weeds than in other types of environments (both P values < 0.05). Conclusions O. hupensis snails have been effectively controlled in Yunnan Province following implementation of integrated schistosomiasis control measures; however, there are still risk factors for schistosomiasis transmission, including reduced attention to schistosomiasis control and snail re-emergence. Improved control efforts and surveillance system construction and timely identification of risk factors of snail status and timely management are recommended to ensure the achievement of the target of schistosomiasis elimination as scheduled.
5.Influencing factors and construction of a nomogram predictive model for postoperative anastomotic leak in patients with carcinoma of the esophagus and gastroesophageal junction
Hao PENG ; Siqi SHENG ; Jing CHEN ; Maitiasen MAIRHABA ; Haizhu SONG ; Jun YI
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2025;32(02):208-215
Objective To analyze the influencing factors for postoperative anastomotic leak (AL) in carcinoma of the esophagus and gastroesophageal junction and construct a nomogram predictive model. Methods The patients who underwent radical esophagectomy at Jinling Hospital Affiliated to Nanjing University School of Medicine from January 2018 to June 2020 were included in this study. Relevant variables were screened using univariate and multivariate logistic regression analyses. A nomogram was then developed to predict the risk factors associated with postoperative AL. The predictive performance of the nomogram was validated using the receiver operating characteristic (ROC) curve. Results A total of 468 patients with carcinoma of the esophagus and gastroesophageal junction were included in the study, comprising 354 males and 114 females, with a mean age of (62.8±7.2) years. The tumors were predominantly located in the middle or lower esophagus, and 51 (10.90%) patients experienced postoperative AL. Univariate logistic regression analysis indicated that age, body mass index (BMI), tumor location, preoperative albumin levels, diabetes mellitus, anastomosis technique, anastomosis site, and C-reactive protein (CRP) levels were potentially associated with AL (P<0.05). Multivariate logistic regression analysis identified age, BMI, tumor location, diabetes mellitus, anastomosis technique, and CRP levels as independent risk factors for AL (P<0.05). A nomogram was developed based on the findings from the multivariate logistic regression analysis. The area under the receiver operating characteristic (ROC) curve was 0.803, indicating a strong concordance between the actual observations and the predicted outcomes. Furthermore, decision curve analysis demonstrated that the newly established nomogram holds significant value for clinical decision-making. Conclusion The predictive model for postoperative AL in patients with carcinoma of the esophagus and gastroesophageal junction demonstrates strong predictive validity and is essential for guiding clinical monitoring, early detection, and preventive strategies.
6.Analysis of the global disease burden and trend of early-onset colorectal cancer
Zhanghan CHEN ; Siqi GAN ; Yiyuan CAO ; Linda LI ; Tianyu ZHANG ; Jia SONG ; Zhipeng QI ; Yunshi ZHONG
Chinese Journal of Clinical Medicine 2025;32(5):734-742
Objective To analyze the disease burden of early-onset colorectal cancer (EOCRC) at the global, regional, and national levels from 1990 to 2021, and to predict the disease burden trend from 2022 to 2026. Methods Based on the Global Burden of Disease (GBD) database, the incidence, mortality, and disability-adjusted life year (DALY) rate of EOCRC across 204 countries and regions from 1990 to 2021 were obtained. The time trends of these indicators were assessed by calculating the estimated annual percentage change (EAPC), and the contributions of ten risk factors to the EOCRC burden were analyzed. The autoregressive integrated moving average (ARIMA) model was used to predict the disease burden from 2022 to 2026. Results From 1990 to 2021, the number of new global EOCRC cases increased from 107 310 to 211 890, with the incidence rising from 3.96 to 5.37 per 100 000 people. In 2021, global EOCRC incidence, mortality, and DALY rate increased with age; males had higher rates than females in terms of incidence, mortality, and DALY rate in all age groups. In 2021, East Asia had the highest number of new cases, deaths, and DALY. From 1990 to 2021, the global EAPC for incidence rate was 0.96%, and death rate was –0.38%. ARIMA model indicated that from 2022 to 2026, the global incidence of EOCRC would continue to rise, while mortality and DALY rate would be expected to decline. Conclusions The disease burden of EOCRC has significantly increased globally from 1990 to 2021, with notable regional, age, and sex differences. By 2026, the mortality and DALY rate of EOCRC will decline, while the incidence is expected to further increase, highlighting the urgency of taking active measures to address the growing trend of EOCRC.
7.Current status of human immunodeficiency virus testing and residual risk in 17 provincial blood centers in China from 2015 to 2024
Siqi WU ; Ying LIU ; Shuo ZHANG ; Yujun LI ; Binbin ZOU ; Lin WANG ; Fei TANG ; Weiping FENG ; Yanhong WAN ; Yanyan LIU ; Ying LI ; Chen XIAO ; Tao WEN ; Hanshi GONG ; Shan FU ; Wenjia HU ; Yan QIU
Chinese Journal of Infectious Diseases 2025;43(10):590-598
Objective:To analyze the human immunodeficiency virus (HIV) screening status and the resulting residual risk (RR) among blood donors across 17 provincial blood centers in China.Methods:This study used a cross-sectional study. Data on HIV infection markers per 100 000 first-time donors (FD) and repeat donors (RD) from January 2015 to December 2024 were extracted from the National Blood Establishment Performance Comparison Information Management System. Questionnaires were used to collect each center′s HIV screening strategy, algorithm, serological test (ST) kit manufacturers, gray-zone setting for ST, and nucleic acid test (NAT) modality, method, and platform. The incidence-window-period model was used to calculate the residual risk for first-time donors (RR FD), repeat donors (RR RD), and total donors (RR TD) at each center. Horizontal and vertical analysis of RR FD, RR RD, and RR TD across centers and years were performed. Results:All 17 centers applied the same HIV screening strategy which was two rounds of ST followed by one round of NAT. Eight of them operated a single screening algorithm, six employed two algorithms and three used three. Eleven centers used both imported and domestic ST kits, five relied on domestic ST kits only, and one used imported ST kits only, while four centers never set a grey zone for ST throughout the decade. For NAT modalities, eight centers adopted both individual nucleic acid test (ID-NAT) and minipool nucleic acid test (MP-NAT), eight used MP-NAT only and one used ID-NAT only. Seven centers combined transcription mediated amplification (TMA) and polymerase chain reaction (PCR), nine used PCR only and one used TMA only, and fourteen centers ran both imported and domestic NAT systems, two used imported systems only and one used a domestic system only. Over the ten-year period, the mean RR FD across the centers ranged from 2.22 to 12.33 per 10 6 person-years, RR RD from 0.83 to 3.29 per 10 6 person-years and RR TD from 1.59 to 9.29 per 10 6 person-years, with center Z4 consistently showing the lowest values for all three metrics and center U4 recording the highest RR FD and RR TD, while center D2 had the highest RR RD. In 2024 compared with 2015, eleven centers achieved a lower RR FD and ten centers achieved lower RR RD and RR TD. The RR FD and RR TD of centers W2 and U4 displayed pronounced fluctuations and an upward trend in recent years. Conclusions:The 17 provincial blood centers maintain consistent HIV screening strategies, while demonstrating variations in screening algorithm, ST kit manufacturers, NAT modalities, methods, and platform. And the RR FD, RR RD, and RR TD differ across centers. Although most centers show declining trend in RR over the ten-year period, some centers exhibite data fluctuations with a rising trend, suggesting potential for further optimization of HIV screening protocols.
8.Research progress of WD repeat and FYVE domain-containing protein 1(WDFY1)
Xiaoqing ZHU ; Siqi LI ; Cheng TIAN ; Rui HE ; Lei FEI ; Yongwen CHEN ; Xiaoyong HUANG
Immunological Journal 2025;41(4):279-284
WDFY1 is a member of the protein family containing the WD repeat and FYVE structural domains,acting as a junction that assists the recruitment of downstream molecules by Toll-like receptor 3/4(TLR3/TLR4)and promotes the body's natural anti-viral and anti-bacterial immune response.In recent years,the role of WDFY1 has been successively reported in various disease models,such as neurological diseases,autophagy and tumors.This paper aims to provide a comprehensive review of the current state of WDFY1 research,encompassing its expression distribution,cell biological function and its role in disease development,and take a prospect on the potential of WDFY1 as a target in rheumatoid arthritis.
9.Clinical phenotype and genetic analysis of a child with Cortical dysplasia, complex, with other brain malformations 4 and epilepsy due to a TUBG1 gene variant
Siqi CHEN ; Yongwen LIN ; Binglong HUANG ; Yinhui CHEN ; Wenhao DENG ; You WANG ; Chengyan LI
Chinese Journal of Medical Genetics 2025;42(8):967-973
Objective:To investigate the clinical characteristics and genetic etiology of a child with Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) and epilepsy due to a TUBG1 gene variant. Methods:A child diagnosed with CDCBM4 and epilepsy at the Children′s Medical Center of the Affiliated Hospital of Guangdong Medical University in May 2024 was selected as the study subject. Clinical data were retrospectively analyzed. Peripheral venous blood samples were collected from the child and her parents for genomic DNA extraction. Trio-based whole-exome sequencing (WES) was performed, and candidate variants were validated by Sanger sequencing. According to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG), candidate variants were classified for pathogenicity. This study was approved by the Medical Ethics Committee of the Affiliated Hospital of Guangdong Medical University (Ethics No.: PJ2021-097).Results:The child, a 4-month-old female infant, had no special facial features, normal limb muscle strength, and increased muscle tone of infantile onset, with generalized tonic-clonic seizures as the main manifestation. During seizures, she exhibited head retroflexion, tightly closed eyes, and tonic convulsions of the limbs, occurring approximately 2-3 times per day. Electroencephalogram suggested bilateral anterior predominant medium-to-high amplitude 7-8 Hz mixed rhythm discharges. Head MRI revealed ventricular system dilatation and pachygyria. Trio-WES results indicated that the child has harbored a TUBG1 gene variant of c. 776C>T (p.Ser259Leu). Sanger sequencing verification showed that neither of her parents had carried the same variant, confirming it as de novo in origin. According to the ACMG guidelines, the variant was rated as pathogenic (PS2+ PS3+ PM2_Supporting+ PP3). Combining the child′s clinical phenotype, the child was diagnosed as CDCBM4 with epilepsy. Conclusion:Children with CDCBM4 and epilepsy due to TUBG1 gene variants may show pachygyria or agyria and commonly present with intellectual and motor developmental delays and seizure disorders of variable severity. The heterozygous TUBG1 c. 776C>T (p.Ser259Leu) variant is likely the genetic etiology underlying this disorder. The results of this study has expanded the mutational spectrum of the TUBG1 gene associated with CDCBM4 and epilepsy.
10.Machine learning analysis of the influence of workload factors and social psychological factors on WMSDs
Siqi CHEN ; Cheng TANG ; Yong YAO ; Bifeng LU ; Yong MEI ; Zhenlong CHEN
Chinese Journal of Industrial Hygiene and Occupational Diseases 2025;43(7):498-503
Objective:To explore the effects of workload factors and social psychological factors on work-related musculoskeletal disorders (WMSDs) , construct a preventive decision-assisted ensemble learning model, and propose screening methods with clinical significance.Methods:In October 2022, 1071 workers from optoelectronic enterprises were selected as the research subjects by cluster sampling method. The general situation of workers, workload factors, social psychological factors and the occurrence of WMSDs were collected by using questionnaires. logistic regression, Extreme Gradient Boosting (XGBoost) , ensemble learning and classification chain model were adopted to explore the key factors influencing WMSDs, and the area under curve (AUC) was used to evaluate the model performance.Results:The incidence of WMSDs among workers in optoelectronic enterprises in the past year was 47.7% (511/1071) , among which the incidence of multi-site WMSDs was 54.4% (278/511) . logistic regression analysis showed that prolonged sitting, personnel shortage and forward neck tilt were risk factors for the occurrence of WMSDs in workers ( P<0.05) . XGBoost identified the key social psychological factors influencing WMSDs as low mood, mental tension, perceived happiness level, psychological calmness and tranquility. The integrated classification chain model based on the ordered label order had certain efficacy (AUC>0.7) when analyzing WMSDs at the neck, waist, shoulder, back, elbow and hip positions. Conclusion:Workload factors are the main risk factors for the occurrence of WMSDs among workers in optoelectronic enterprises, and social psychological factors also have potential influences. The construction of a classification chain model can accurately identify the occurrence of WMSDs in multiple parts. The alternating prevention strategy of workload factors and social psychological factors has important public health significance.

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