1.Loss-of-function MAVS mutation causes antiviral immunodeficiency:unveiling a novel mechanism linking viral infection to generalized pustular psoriasis in children
Yanan SUN ; Jiahong ZHOU ; Yaqin LIU ; Juan YANG ; Shasha MENG ; Hongmei LI ; Weihui ZHOU
Journal of Army Medical University 2025;47(23):2953-2962
Objective To investigate the role of mitochondrial antiviral signaling protein(MAVS)in viral infection-triggered generalized pustular psoriasis(GPP)in children.Methods This retrospective case-control study enrolled 80 GPP patients aged 0~18 years from Children's Hospital of Chongqing Medical University(from October 2013 to April 2019).Whole-exome sequencing identified rare MAVS variants associated with GPP.Pathogenicity of variants was predicted using Mutation Taster,Disease Association,SIFT,and CADD bioinformatics tools.Sanger sequencing validated variants,followed by construction of wild-type(WT)and mutant MAVS expression plasmids transfected into HEK 293 cells.Protein expression was assessed by Western blot.Dual-luciferase reporter gene assays measured IFNB1 and NF-κB transcriptional activity.Genotype distribution of the MAVS c.171dupT/p.H57fs variant was analyzed using Fisher's exact test.Results This study enrolled 80 pediatric GPP patients(aged 0~18 years).Whole-exome sequencing identified five rare MAVS variants,with bioinformatics analyses predicting deleterious effects on protein stability and function.Western blot demonstrated that the c.171dupT mutation in GPP patients significantly reduced full-length MAVS expression(P<0.001);dual-luciferase assays further revealed this variant impaired MAVS-mediated IFNB1 transcriptional activation by 85%(P<0.001),abrogated NF-κB signaling pathway activation(P<0.001),but exhibited no dominant-negative effect on wild-type MAVS function(P>0.05).Conclusion The MAVS c.171dupT frameshift variant may contribute to infection-triggered GPP in children,suggesting its potential as a genetic biomarker for GPP susceptibility.
2.Minor children parenting concerns in young and middle-aged breast cancer patients:a study on influencing factors based on random forest model
Yifen SONG ; Xianglian SUN ; Chen LIU ; Jinlei ZHANG ; Xiaoxiao YIN ; Yaqing ZHANG ; Weihui JIA ; Chonggao YIN
Modern Clinical Nursing 2025;24(2):1-9
Objective To explore the current status of minor children parenting concerns among young and middle-aged breast cancer patients and investigate the influencing factors based on a random forest model so as to provide references for clinical interventions.Methods A convenience sampling method was used to select breast cancer patients undergoing treatment in our hospital between April and December 2023.A self-designed general information questionnaire,the Chinese version of parenting concerns questionnaire(PCQ),perceived social support scale(PSSS),concern about recurrence scale(CARS),and the brief illness perception questionnaire(BIPQ)were used for the study.A random forest model and the least absolute shrinkage and selection operator(LASSO)were employed to prioritise variables and filtered by significance.The selected variables were then incorporated into the multiple linear regression analysis.Results A total of 260 patients completed the study.The score of minor children parenting concerns of young and middle-aged breast cancer patients was 51.1±6.4.The multiple linear regression analysis,which included variables determined by random forest and LASSO regression(and sorted by the importance of influencing factors),showed that higher disease perception,lower perceived social support,greater concern about cancer recurrence,stage IV tumors,being divorced/widowed,and having more minor children were associated with higher parenting concerns among young and middle-aged breast cancer patients(all P<0.05),accounting for 57.0%of the total variance.Conclusion The minor children parenting concerns in young and middle-aged breast cancer patients are at a moderately high level and are influenced by a variety of factors.Healthcare professionals should develop targeted measures and interventions to reduce the parenting concerns among the patients.
3.Effects of vitamin D supplementation combined with suspended lumbar and abdominal muscle training on rehabilitation and bone metabolism indexes in patients with OVCF after surgery
Guangjian WANG ; Shaoling SUN ; Shaowei SUN ; Weihui JIANG ; Yubin LIU
Chinese Journal of Endocrine Surgery 2025;19(1):101-105
Objective:To explore the effects of vitamin D supplementation combined with suspended lumbar abdominal muscle training on rehabilitation and bone metabolism indexes of patients after OVCF.Methods:A total of 140 patients with osteoporotic vertebral compression fractures (OVCF) treated at Yantaishan Hospital from Jun. 2021 to Jun. 2024 were included in this study. Patients were randomly assigned to a control group and an observation group using a random number table, with 70 patients in each group. The control group received suspension lumbar and abdominal muscle training, while the observation group received vitamin D supplementation combined with suspension lumbar and abdominal muscle training. Outcomes evaluated included VAS scores, Oswestry Disability Index (ODI) , Cobb Angle, lumboabdominal muscle strength, and serum levels of 25-hydroxyvitamin D [25 (OH) D], bone mineral density T value, and bone metabolism markers [serum osteocalcin (OC) , calcitonin (CT) , total type I collagen amino-terminal propeptide (tPINP) , type I collagen carboxy-terminal peptide β special sequence (β-CTX) , intact parathyroid hormone (iPTH) , and bone-specific alkaline phosphatase (BALP) ] measured by chemiluminescence.Results:In comparison with the control group, the VAS and ODI scores in the observation group were lower after treatment ( t=13.66, t=9.87, P < 0.05) . Compared to the control group, the lumbar muscle strength score of the observation group, the 25 (OH) D level and bone mineral density T value was higher after treatment ( t=57.63, t=6.64, t=5.01, P < 0.05) , and the Cobb Angle was smaller ( t=9.21, P < 0.05) .Compared with the control group, the bone metabolism indexes OC, CT, tPINP, and BALP were higher in the observation group after treatment ( t=4.21, t=3.05, t=2.66, t=3.16, P < 0.05) , while the iPTH and β-CTX were lower ( t=7.28, t=3.50, P < 0.05) . Conclusions:Vitamin D supplementation combined with suspended lumbar and abdominal muscle training can promote postoperative rehabilitation of OVCF patients and improve the level of bone metabolism indexes after surgery.
4.Effects of vitamin D supplementation combined with suspended lumbar and abdominal muscle training on rehabilitation and bone metabolism indexes in patients with OVCF after surgery
Guangjian WANG ; Shaoling SUN ; Shaowei SUN ; Weihui JIANG ; Yubin LIU
Chinese Journal of Endocrine Surgery 2025;19(1):101-105
Objective:To explore the effects of vitamin D supplementation combined with suspended lumbar abdominal muscle training on rehabilitation and bone metabolism indexes of patients after OVCF.Methods:A total of 140 patients with osteoporotic vertebral compression fractures (OVCF) treated at Yantaishan Hospital from Jun. 2021 to Jun. 2024 were included in this study. Patients were randomly assigned to a control group and an observation group using a random number table, with 70 patients in each group. The control group received suspension lumbar and abdominal muscle training, while the observation group received vitamin D supplementation combined with suspension lumbar and abdominal muscle training. Outcomes evaluated included VAS scores, Oswestry Disability Index (ODI) , Cobb Angle, lumboabdominal muscle strength, and serum levels of 25-hydroxyvitamin D [25 (OH) D], bone mineral density T value, and bone metabolism markers [serum osteocalcin (OC) , calcitonin (CT) , total type I collagen amino-terminal propeptide (tPINP) , type I collagen carboxy-terminal peptide β special sequence (β-CTX) , intact parathyroid hormone (iPTH) , and bone-specific alkaline phosphatase (BALP) ] measured by chemiluminescence.Results:In comparison with the control group, the VAS and ODI scores in the observation group were lower after treatment ( t=13.66, t=9.87, P < 0.05) . Compared to the control group, the lumbar muscle strength score of the observation group, the 25 (OH) D level and bone mineral density T value was higher after treatment ( t=57.63, t=6.64, t=5.01, P < 0.05) , and the Cobb Angle was smaller ( t=9.21, P < 0.05) .Compared with the control group, the bone metabolism indexes OC, CT, tPINP, and BALP were higher in the observation group after treatment ( t=4.21, t=3.05, t=2.66, t=3.16, P < 0.05) , while the iPTH and β-CTX were lower ( t=7.28, t=3.50, P < 0.05) . Conclusions:Vitamin D supplementation combined with suspended lumbar and abdominal muscle training can promote postoperative rehabilitation of OVCF patients and improve the level of bone metabolism indexes after surgery.
5.Minor children parenting concerns in young and middle-aged breast cancer patients:a study on influencing factors based on random forest model
Yifen SONG ; Xianglian SUN ; Chen LIU ; Jinlei ZHANG ; Xiaoxiao YIN ; Yaqing ZHANG ; Weihui JIA ; Chonggao YIN
Modern Clinical Nursing 2025;24(2):1-9
Objective To explore the current status of minor children parenting concerns among young and middle-aged breast cancer patients and investigate the influencing factors based on a random forest model so as to provide references for clinical interventions.Methods A convenience sampling method was used to select breast cancer patients undergoing treatment in our hospital between April and December 2023.A self-designed general information questionnaire,the Chinese version of parenting concerns questionnaire(PCQ),perceived social support scale(PSSS),concern about recurrence scale(CARS),and the brief illness perception questionnaire(BIPQ)were used for the study.A random forest model and the least absolute shrinkage and selection operator(LASSO)were employed to prioritise variables and filtered by significance.The selected variables were then incorporated into the multiple linear regression analysis.Results A total of 260 patients completed the study.The score of minor children parenting concerns of young and middle-aged breast cancer patients was 51.1±6.4.The multiple linear regression analysis,which included variables determined by random forest and LASSO regression(and sorted by the importance of influencing factors),showed that higher disease perception,lower perceived social support,greater concern about cancer recurrence,stage IV tumors,being divorced/widowed,and having more minor children were associated with higher parenting concerns among young and middle-aged breast cancer patients(all P<0.05),accounting for 57.0%of the total variance.Conclusion The minor children parenting concerns in young and middle-aged breast cancer patients are at a moderately high level and are influenced by a variety of factors.Healthcare professionals should develop targeted measures and interventions to reduce the parenting concerns among the patients.
6.Metabolic profile analysis on urine of workers with occupational nickel exposure
Zuofei XIE ; Anping MA ; Wenjie ZHANG ; Lin ZHONG ; Jingjing QIU ; Zuokan LIN ; Yi SUN ; Weihui WANG ; Zhanhong YANG ; Liuqing ZHAO ; Yiru QIN ; Weifeng RONG
China Occupational Medicine 2024;51(5):488-495
Objective To analyze differential metabolites (DMs) in the urine of workers with occupational nickel exposure using non-targeted metabolomics, and to screen differential metabolic pathways. Methods A total of 30 nickel exposed workers were selected as the exposure group, and 30 administrative staff from the same factory were selected as the control group using the judgment sampling method. Urine samples of the individuals from the two groups were collected. The ultra-high performance liquid chromatography with quadrupole time-of-flight mass spectrometry and non-targeted metabolomics were used to detect and identify metabolites. The differential metabolic profiles were compared between workers of the two groups, and key differential metabolic pathways and potential biomarkers were screened. The association of DMs and urinary nickel level were evaluated by Spearman correlation coefficients. The sensitivity and specificity of biomarkers were assessed by receiver operating characteristic (ROC) curve analysis. Results A total of 418 metabolites were identified in the urine of worker in the exposure and control groups. The result of principal component analysis and orthogonal partial least squares analysis showed that there were 128 DMs in the urine of workers in the exposure group compared with the control group. These DMs were mainly enriched in glutathione metabolism, carnitine synthesis, and amino acid and nucleotide metabolism pathways, including glycine and serine metabolism. The result of correlation analysis and ROC curve analysis revealed that 4-methylcatechol, 4-vinylphenol sulfate, 2-hydroxyphenylacetone sulfate, 2-dodecylbenzenesulfonic acid, and decylbenzenesulfonic acid could be the potential biomarkers for nickel exposure (all area under the ROC curve >0.800). Conclusion There were significant differences in the urinary metabolic profiles of workers with occupational nickel exposure. The five DMs including 4-methylcatechol, 4-vinylphenol sulfate, 2-hydroxyphenylacetone sulfate, 2-dodecylbenzenesulfonic acid, and decylbenzenesulfonic acid. These DMs could be potential biomarkers of occupational nickel exposure.
7.Artificial Intelligence in the Prediction of Gastrointestinal Stromal Tumors on Endoscopic Ultrasonography Images: Development, Validation and Comparison with Endosonographers
Yi LU ; Jiachuan WU ; Minhui HU ; Qinghua ZHONG ; Limian ER ; Huihui SHI ; Weihui CHENG ; Ke CHEN ; Yuan LIU ; Bingfeng QIU ; Qiancheng XU ; Guangshun LAI ; Yufeng WANG ; Yuxuan LUO ; Jinbao MU ; Wenjie ZHANG ; Min ZHI ; Jiachen SUN
Gut and Liver 2023;17(6):874-883
Background/Aims:
The accuracy of endosonographers in diagnosing gastric subepithelial lesions (SELs) using endoscopic ultrasonography (EUS) is influenced by experience and subjectivity. Artificial intelligence (AI) has achieved remarkable development in this field. This study aimed to develop an AI-based EUS diagnostic model for the diagnosis of SELs, and evaluated its efficacy with external validation.
Methods:
We developed the EUS-AI model with ResNeSt50 using EUS images from two hospitals to predict the histopathology of the gastric SELs originating from muscularis propria. The diagnostic performance of the model was also validated using EUS images obtained from four other hospitals.
Results:
A total of 2,057 images from 367 patients (375 SELs) were chosen to build the models, and 914 images from 106 patients (108 SELs) were chosen for external validation. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of the model for differentiating gastrointestinal stromal tumors (GISTs) and non-GISTs in the external validation sets by images were 82.01%, 68.22%, 86.77%, 59.86%, and 78.12%, respectively. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy in the external validation set by tumors were 83.75%, 71.43%, 89.33%, 60.61%, and 80.56%, respectively. The EUS-AI model showed better performance (especially specificity) than some endosonographers.The model helped improve the sensitivity, specificity, and accuracy of certain endosonographers.
Conclusions
We developed an EUS-AI model to classify gastric SELs originating from muscularis propria into GISTs and non-GISTs with good accuracy. The model may help improve the diagnostic performance of endosonographers. Further work is required to develop a multi-modal EUS-AI system.
8.High efficiency of left superior frontal gyrus and the symptom features of major depressive disorder.
Liang ZHANG ; Zexuan LI ; Xiaowen LU ; Jin LIU ; Yumeng JU ; Qiangli DONG ; Jinrong SUN ; Mi WANG ; Bangshan LIU ; Jiang LONG ; Yan ZHANG ; Qiang XU ; Weihui LI ; Xiang LIU ; Hua GUO ; Guangming LU ; Lingjiang LI
Journal of Central South University(Medical Sciences) 2022;47(3):289-300
OBJECTIVES:
Major depressive disorder (MDD) patients with anhedonia tend to have a poor prognosis. The underlying imaging basis for anhedonia in MDD remains largely unknown. The relationship between nodal properties and anhedonia in MDD patients need to be further investigated. Herein, this study aims to explore differences of cerebral functional node characteristics in MDD patients with severe anhedonia (MDD-SA) and MDD patients with mild anhedonia (MDD-MA) before and after the antidepressant treatment.
METHODS:
Ninety participants with current MDD were recruited in this study. 24-Item Hamilton Depression Scale (HAMD-24) and Snaith-Hamilton Pleasure Scale (SHAPS) were used to assess the severity of depression and anhedonia at baseline and the end of 6-months treatment. The MDD patients who scored above the 25th percentile on the SHAPS were assigned to an MDD-SA group (n=19), while those who scored below the 25th percentile were assigned to an MDD-MA group (n=18). All patients in the 2 groups received antidepressant treatment. Functional magnetic resonance imaging (fMRI) images of all the patients were collected at baseline and the end of 6-months treatment. Graph theory was applied to analyze the patients' cerebral functional nodal characteristics, which were measured by efficiency (ei) and degree (ki).
RESULTS:
Repeated measures 2-factor ANCOVA showed significant main effects on group on the ei and ki values of left superior frontal gyrus (LSFG) (P=0.003 and P=0.008, respectively), and on the ei and ki values of left medial orbital-frontal gyrus (LMOFG) (P=0.004 and P=0.008, respectively). Compared with the MDD-MA group, the significantly higher ei and ki values of the LSFG (P=0.015 and P=0.021, respectively), and the significantly higher ei and ki values of the LMOFG (P=0.015 and P=0.037, respectively) were observed in the MDD-SA group at baseline. Meanwhile, higher SHAPS scores could result in higher ei and ki values of LSFG (P=0.019 and P=0.026, respectively), and higher ei value of LMOFG (P=0.040) at baseline; higher SHAPS scores could result in higher ei values of LSFG (P=0.049) at the end of 6-months treatment. The multiple linear regression analysis revealed that sex were negatively correlated with the ei and ki values of LSFG (r= -0.014, P=0.004; r=-1.153, P=0.001, respectively). The onset age of MDD was negatively correlated with the ki value of LSFG (r=-0.420, P=0.034) at the end of 6-months treatment. We also found that SHAPS scores at baseline were positively correlated with the HAMD-24 scores (r=0.387, P=0.022) at the end of 6-months treatment.
CONCLUSIONS
There are obvious differences in nodal properties between the MDD-SA and the MDD-MA patients, such as the high ei of LSFG in the MDD-SA patients, which may be associated with the severity of anhedonia. These nodal properties could be potential biomarkers for the prognosis of MDD. The increased ei and ki values in the LSFG of MDD-SA patients may underlie a compensatory mechanism or protective mechanism. The mechanism may be an important component of the pathological mechanism of MDD-SA. The poor prognosis in the MDD-SA patients suggests that anhedonia may predict a worse prognosis in MDD patients. Sex and onset age of MDD may affect the nodal properties of LSFG at baseline and the end of 6-months treatment.
Anhedonia
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Antidepressive Agents/therapeutic use*
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Depressive Disorder, Major/drug therapy*
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Humans
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Infant
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Infant, Newborn
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Magnetic Resonance Imaging
;
Prefrontal Cortex
9.Research Progress of Pharmacological Therapy and Nutritional Support for Cachexia in Lung Cancer Patients.
Jiemin WANG ; Weihui JIA ; Danyang LI ; Yanmei SONG ; Ningxin SUN ; Ke YANG ; Hongli LI ; Chonggao YIN
Chinese Journal of Lung Cancer 2022;25(6):420-424
Cachexia is a common complication in patients with lung cancer. It aggravates the toxic and side effects of chemotherapy, hinders the treatment plan, weakens the responsiveness of chemotherapy, reduces the quality of life, increases complications and mortality, and seriously endangers the physical and mental health of patients with lung cancer. The causes and pathogenesis of tumor cachexia are extremely complex, which makes its treatment difficult and complex. Controlling cachexia in lung cancer patients requires many means such as anti-tumor therapy, inhibition of inflammatory response, nutritional support, physical exercise, and relief of symptoms to exert the synergistic effect of multimodal therapy against multiple mechanisms of tumor cachexia. To date, there has been a consensus within the discipline that no single therapy can control the development of cachexia. Some therapies have made some progress, but they need to be implemented in combination with multimodal therapy after fully assessing the individual characteristics of lung cancer patients. This article reviews the application of drug therapy and nutritional support in lung cancer patients, and looks forward to the research direction of cachexia control in lung cancer patients.
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Cachexia/therapy*
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Combined Modality Therapy
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Humans
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Lung Neoplasms/drug therapy*
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Neoplasms/complications*
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Nutritional Support/adverse effects*
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Quality of Life

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