1.Clinical features and immunotherapy for children with loss-of-function/gain-of-function mutations in the STAT gene: an analysis of 10 cases.
Hong-Wei LI ; Yan-Hong WANG ; Shang-Zhi WU ; Bi-Yun ZHANG ; Shi-Hui XU ; Jia-Xing XU ; Zhan-Hang HUANG ; Cheng-Yu LU ; De-Hui CHEN
Chinese Journal of Contemporary Pediatrics 2025;27(8):951-958
OBJECTIVES:
To investigate the clinical features of children with STAT gene mutations, and to explore corresponding immunotherapy strategies.
METHODS:
A retrospective analysis was performed for the clinical data of 10 children with STAT gene mutations who were admitted to the Department of Pediatrics of the First Affiliated Hospital of Guangzhou Medical University, from October 2015 to October 2024. Exploratory immunotherapy was implemented in some refractory cases, and the changes in symptoms, imaging manifestations, and cytokine levels were assessed after treatment.
RESULTS:
For the 10 children, the main clinical manifestations were recurrent rash since birth (7/10), cough (8/10), wheezing (5/10), expectoration (4/10), and purulent nasal discharge (4/10). Genotyping results showed that there was one child with heterozygous loss-of-function (LOF) mutation in the STAT1 gene, four children with heterozygous LOF mutation in the STAT3 gene, and five children with heterozygous gain-of-function (GOF) mutation in the STAT3 gene. Two children with LOF mutation in the STAT3 gene showed decreased interleukin-6 levels and improved clinical symptoms and imaging findings after omalizumab treatment. Three children with GOF mutation in the STAT3 gene achieved effective disease control after treatment with methylprednisolone (0.5 mg/kg per day). Two children with GOF mutation in the STAT3 gene received treatment with JAK inhibitor and then showed some improvement in symptoms.
CONCLUSIONS
STAT gene mutation screening should be considered for children with recurrent rash and purulent respiratory tract infections. Targeted immunotherapy may improve prognosis in patients with no response to conventional treatment.
Humans
;
Male
;
Immunotherapy
;
Female
;
Child, Preschool
;
Child
;
Gain of Function Mutation
;
Retrospective Studies
;
Infant
;
Loss of Function Mutation
;
STAT Transcription Factors/genetics*
2.Chain mediating role of family care and emotional management between social support and anxiety in primary school students.
Zhan-Wen LI ; Jian-Hui WEI ; Ke-Bin CHEN ; Xiao-Rui RUAN ; Yu-Ting WEN ; Cheng-Lu ZHOU ; Jia-Peng TANG ; Ting-Ting WANG ; Ya-Qing TAN ; Jia-Bi QIN
Chinese Journal of Contemporary Pediatrics 2025;27(10):1176-1184
OBJECTIVES:
To investigate the chain mediating role of family care and emotional management in the relationship between social support and anxiety among rural primary school students.
METHODS:
A questionnaire survey was conducted among students in grades 4 to 6 from four counties in Hunan Province. Data were collected using the Social Support Rating Scale, Family Care Index Scale, Emotional Intelligence Scale, and Generalized Anxiety Disorder -7. Logistic regression analysis was used to explore the influencing factors of anxiety symptoms. Mediation analysis was conducted to assess the chain mediating effects of family care and emotional management between social support and anxiety.
RESULTS:
A total of 4 141 questionnaires were distributed, with 3 874 valid responses (effective response rate: 93.55%). The prevalence rate of anxiety symptoms among these students was 9.32% (95%CI: 8.40%-10.23%). Significant differences were observed in the prevalence rates of anxiety symptoms among groups with different levels of social support, family functioning, and emotional management ability (P<0.05). The total indirect effect of social support on anxiety symptoms via family care and emotional management was significant (β=-0.137, 95%CI: -0.167 to -0.109), and the direct effect of social support on anxiety symptoms remained significant (P<0.05). Family care and emotional management served as significant chain mediators in the relationship between social support and anxiety symptoms (β=-0.025,95%CI:-0.032 to -0.018), accounting for 14.5% of the total effect.
CONCLUSIONS
Social support can directly affect anxiety symptoms among rural primary school students and can also indirectly influence anxiety symptoms through the chain mediating effects of family care and emotional management. These findings provide scientific evidence for the prevention of anxiety in primary school students from multiple perspectives.
Humans
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Female
;
Male
;
Social Support
;
Anxiety/etiology*
;
Child
;
Students/psychology*
;
Emotions
;
Logistic Models
3.A controlled clinical study of two types of thoracoscopic precision segmentectomy for determining interseg-mental plane
Da-Qing CHEN ; Bi-Cheng ZHAN ; Xin-Tao ZHOU ; Jian CHEN
Journal of Regional Anatomy and Operative Surgery 2024;33(3):264-267
Objective To compare the application effects of simple artery ligation and modified inflation-deflation method in determining the lung intersegment plane during thoracoscopic precision segmentectomy.Methods A total of 80 patients who underwent thoracoscopic precision segmentectomy in our hospital from August 2021 to February 2023 were prospectively included and divided into the observation group and the control group by random number table method,with 40 cases in each group.Patients in the observation group were determined the lung intersegment plane by simple artery ligation,while patients in the control group were determined the lung intersegment plane by modified inflation-deflation method.The perioperative related indexes,lung function indexes,postoperative complications and follow-up of patients between the two groups were compared.Results The operative time and blood loss of patients in the observation group were significantly shorter/lower than those in the control group(P<0.05).There was no significant difference in the time to reveal the interseg-mental planes, total drainage volume after operation, indwelling time of drainage tube, postoperative hospital stay or lung segmentectomy distribution of patients between the two groups (P>0. 05). The percentage of forced vital capacity to the predicted values (FVC%pred) and percentage of forced expiratory volume in 1 second to the predicted values (FEV1%pred) after operation of patients in the two groups were significantly decreased compared with those before operation (P<0. 05), and FVC%pred and FEV1%pred after operation of patients in the observation group were significantly higher than those in the control group (P<0. 05). There was no statistically significant difference in the occurrence of postoperative complications of patients between the two groups (P>0. 05). There was no death, local recurrence or distant metastasis occurred in all patients during follow-up. Conclusion Compared with the modified inflation-deflation method, the application of simple artery ligation to determine the intersegment plane during thoracoscopic precision segmentectomy has significant advantages such as simple operation, less injury, and less impact on the lung function of patients, which is a feasible and effective technique, with high safety.
4.Predictive value of four score systems on the bleeding risk in atrial fibrillation patients treated with dabigatran.
Cong Cong DING ; Bi Ming ZHAN ; Wei ZHOU ; Ming Hui LI ; Li Hua HU ; Hui Hui BAO ; Xiao Shu CHENG
Chinese Journal of Cardiology 2020;48(9):748-752
Objective: To compare the predictive value of HAS-BLED, HEMORR2HAGES, ATRIA and ORBIT scores on the bleeding risk in nonvalvular atrial fibrillation (NVAF) patients treated with dabigatran. Methods: Data of 942 NVAF patients participating a non-interventional prospective study of anticoagulant therapy with dabigatran, which was conducted in 12 centers from February 2015 to December 2017 in China, were analyzed. Complete HAS-BLED HEMORR2HAGES, ATRIA and ORBIT bleeding risk scores data and follow-up data were available in the enrolled patients. The endpoint of the study was bleeding events occurred during a 6 months follow-up. Cox proportional hazards models were constructed to analyze the associations between HAS-BLED, HEMORR2HAGES, ATRIA and ORBIT scores and risk of bleeding, and the area under the curve (AUC) of receiver operating characteristics curves (ROC) of each score was used to set the predictive value for bleeding risk. Results: Among the 942 patients, the mean age was (65.3±11.2) years old, 542 (57.5%) were males. A total of 93 (9.9%) bleeding events occurred during follow up, 89 (9.4%) events were minor bleeding, and 4 (0.4%) events were major bleeding. Patients with a high-risk HAS-BLED score had a 1.87-fold increased risk of bleeding compared with low-risk patients (HR = 2.87, 95% CI:1.26-6.51, P = 0.012). There was no statistically significant difference between low-medium-high-risk grading in other scoring systems and bleeding risk (all P>0.05). The AUC (95%CI) of HAS-BLED, HEMORR2HAGES, ATRIA and ORBIT bleeding risk scores were 0.558 (0.525-0.590), 0.520 (0.487-0.553), 0.513(0.480-0.545), 0.523(0.490-0.555), respectively. The AUC of all bleeding score systems were of ≤ 0.700. Conclusion: Among the NVAF patients taking dabigatran in China, the HAS-BLED bleeding risk score is superior to other 3 bleeding risk score on predicting the bleeding risk in these patients, but its predictive value is still relatively low.
Aged
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Anticoagulants
;
Atrial Fibrillation
;
China
;
Dabigatran
;
Humans
;
Male
;
Middle Aged
;
Prospective Studies
;
Risk Assessment
;
Risk Factors
;
Stroke
5.Splenectomy suppresses growth and metastasis of hepatocellular carcinoma through decreasing myeloid-derived suppressor cells in vivo.
Xin LONG ; Jian WANG ; Jian-Ping ZHAO ; Hui-Fang LIANG ; Peng ZHU ; Qi CHENG ; Qian CHEN ; Yan-Hui WU ; Zhan-Guo ZHANG ; Bi-Xiang ZHANG ; Xiao-Ping CHEN
Journal of Huazhong University of Science and Technology (Medical Sciences) 2016;36(5):667-676
The function of the spleen in tumor development has been investigated for years. The relationship of the spleen with hepatocellular carcinoma (HCC), a huge health burden worldwide, however, remains unknown. The present study aimed to examine the effect of splenectomy on the development of HCC and the possible mechanism. Mouse hepatic carcinoma lines H22 and Hepa1-6 as well as BALB/c and C57 mice were used to establish orthotopic and metastatic mouse models of liver cancer. Mice were divided into four groups, including control group, splenectomy control group (S group), tumor group (T group) and tumor plus splenectomy group (T+S group). Tumor growth, metastases and overall survival were assessed at determined time points. Meanwhile, myeloid-derived suppressor cells (MDSCs) were isolated from the peripheral blood (PB), the spleen and liver tumors, and then measured by flow cytometery. It was found that liver cancer led to splenomegaly, and increased the percentage of MDSCs in the PB and spleen in the mouse models. Splenectomy inhibited the growth and progression of liver cancer and prolonged the overall survival time of orthotopic and metastatic models, which was accompanied by decreased proportion of MDSCs in the PB and tumors of liver cancer-bearing mouse. It was suggested that splenectomy could be considered an adjuvant therapy to treat liver cancer.
Animals
;
Carcinoma, Hepatocellular
;
physiopathology
;
surgery
;
Cell Line, Tumor
;
Flow Cytometry
;
Humans
;
Liver Neoplasms
;
physiopathology
;
surgery
;
Mice
;
Myeloid-Derived Suppressor Cells
;
pathology
;
Neoplasms, Experimental
;
physiopathology
;
surgery
;
Spleen
;
physiopathology
;
surgery
;
Splenectomy
;
methods
6.Effect of spinal manipulation on brain functional activity in patients with lumbar disc herniation.
Wei-an YUAN ; Zhi-bi SHEN ; Li XUE ; Wen-li TAN ; Ying-wu CHENG ; Song-hua ZHAN ; Hong-sheng ZHAN ;
Journal of Zhejiang University. Medical sciences 2015;44(2):124-137
OBJECTIVETo investigate the effects of spinal manipulation (SM) on brain functional activity in patients with lumbar disc herniation (LDH).
METHODSEleven patients with LDH were recruited in the study. All patients received 6 times of lumbar SM treatment and then clinical efficacy was evaluated. All patients received brain functional magnetic resonance imaging (fMRI) scans before and after SM treatment.
RESULTSThree subjects dropped out and 8 subjects completed the study, among whom 4 cases were effective and 4 ineffective after SM treatment. The required pressure value producing the same level (VAS 50) pain was (7.43 ± 1.47) kg and (10.53 ± 0.55) kg before and after SM treatment in effective patients(P<0.05); however, there was no significant difference in ineffective patients (P>0.05). Compared to pre-treatment level, the brain functional activity in effective patients was mainly inhibited, the inhibited areas were located in the right side of prefrontal cortex and cerebellum; while the brain functional activity was generally enhanced in ineffective patients.
CONCLUSIONSM can affect the brain functional activity of patients with LDH, the inhibited areas is mainly located in prefrontal cortex and cerebellum when SM treatment is effective.
Brain ; physiopathology ; Humans ; Intervertebral Disc Displacement ; therapy ; Lumbar Vertebrae ; pathology ; Magnetic Resonance Imaging ; Manipulation, Spinal
7.Effect of spinal manipulation on brain functional activity in patients with lumbar disc herniation
Wei-An YUAN ; Zhi-Bi SHEN ; Li XUE ; Wen-Li TAN ; Ying-Wu CHENG ; Song-Hua ZHAN ; Hong-Sheng ZHAN
Journal of Zhejiang University. Medical sciences 2015;(2):124-130,137
Objective: To investigate the effects of spinal manipulation ( SM) on brain functional activity in patients with lumbar disc herniation ( LDH ) .Methods:Eleven patients with LDH were recruited in the study .All patients received 6 times of lumbar SM treatment and then clinical efficacy was evaluated .All patients received brain functional magnetic resonance imaging ( fMRI ) scans before and after SM treatment.Results: Three subjects dropped out and 8 subjects completed the study , among whom 4 cases were effective and 4 ineffective after SM treatment .The required pressure value producing the same level ( VAS 50 ) pain was ( 7 .43 ±1 .47 ) kg and (10.53 ±0.55) kg before and after SM treatment in effective patients ( P<0.05);however , there was no significant difference in ineffective patients ( P>0 .05 ) . Compared to pre-treatment level, the brain functional activity in effective patients was mainly inhibited , the inhibited areas were located in the right side of prefrontal cortex and cerebellum;while the brain functional activity was generally enhanced in ineffective patients.Conclusion:SM can affect the brain functional activity of patients with LDH , the inhibited areas is mainly located in prefrontal cortex and cerebellum when SM treatment is effective .

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