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
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Male
;
Immunotherapy
;
Female
;
Child, Preschool
;
Child
;
Gain of Function Mutation
;
Retrospective Studies
;
Infant
;
Loss of Function Mutation
;
STAT Transcription Factors/genetics*
2.Non-pharmacological interventions in chronic prostatitis/chronic pelvic pain syndrome: A network meta-analysis.
Xiao-Hui WEI ; Meng-Yao MA ; Hang SU ; Tong HU ; Yu-Xin ZHAO ; Xing-Chao LIU ; Hong-Yan BI
National Journal of Andrology 2025;31(3):234-245
OBJECTIVE:
To evaluate the efficacy of shockwave therapy, acupuncture, hyperthermia, biofeedback therapy, electrical nerve stimulation, magnetotherapy and ultrasound therapy in the treatment of chronic prostatitis/chronic pelvic pain syndrome(CP/CPPS), and to provide evidence-based support for clinical decision-making.
METHODS:
Two researchers independently searched PubMed, Web of Science, Embase, Cochrane Library, CNKI, Wanfang, VIP and Chinese Biomedical Literature databases for randomized controlled trials(RCTs) on the effects of different interventions on CP/CPPS from the establishment of the databases to August 2024. We evaluated the quality of the included literature and extracted the relevant data according to the Cochrane Handbook for Systematic Reviews of Interventions, followed by network meta-analysis using Revman 5.3, R 4.33 and Stata17 software.
RESULTS:
A total of 25 RCTs involving 1 794 cases were included. The results of network meta-analysis showed that electrical nerve stimulation, shockwave therapy, biofeedback therapy, magnetotherapy, ultrasound therapy and acupuncture were significantly superior to conventional medication and placebo in the total NIH-CPSI scores(P< 0.05), and so were electrical nerve stimulation and shockwave therapy to acupuncture and hyperthermia(P< 0.05), magnetic therapy to hyperthermia, and ultrasound therapy to placebo(P< 0.05). Shockwave therapy, biofeedback therapy, electrical nerve stimulation, magnetotherapy and ultrasound therapy achieved remarkably better clinical efficacy than conventional medication and placebo in the treatment of CP/CPPS, and so did shockwave therapy than electrical nerve stimulation, hyperthermia, ultrasonic therapy, magnetotherapy and acupuncture.
CONCLUSION
For the treatment of CP/CPPS, electrical nerve stimulation is advantageous over the other interventions in improving total NIH-CPSI scores, and shockwave therapy is advantageous in relieving pain symptoms and clinical efficacy. This conclusion, however, needs to be further verified by more high-quality clinical studies.
Humans
;
Acupuncture Therapy
;
Biofeedback, Psychology
;
Chronic Disease
;
Electric Stimulation Therapy
;
Extracorporeal Shockwave Therapy
;
Magnetic Field Therapy
;
Pelvic Pain/therapy*
;
Prostatitis/therapy*
;
Randomized Controlled Trials as Topic
;
Ultrasonic Therapy
3.Air Pollution and Cardiac Biomarkers in Heart Failure: A Scoping Review.
Gang LI ; Yan Hui JIA ; Yun Shang CUI ; Shao Wei WU ; Tong Yu MA ; Yun Xing JIANG ; Hong Bing XU ; Yu Hui ZHANG ; Mary A FOX
Biomedical and Environmental Sciences 2025;38(11):1430-1443
Ambient air pollution is increasingly being recognized as a risk factor for heart failure; however, its effects on cardiac biomarkers remain unclear. This scoping review assessed the existing evidence on the association between air pollution and cardiac biomarkers in heart failure, described the key concepts, synthesized data, and identified research gaps. Following the PRISMA-ScR guidelines, PubMed, Embase, Web of Science, and CNKI databases were searched for studies on air pollution, heart failure, and biomarkers. A total of 765 records were screened, and 81 full texts were assessed for eligibility, resulting in 15 studies. The results showed that the exposure to particulate matter was associated with elevated N-terminal pro-B-type natriuretic peptide and troponin levels. Several studies have linked particulate matter exposure to a higher cardiovascular risk and heart failure biomarkers. Inflammatory and oxidative stress markers were consistently elevated across studies, supporting the biological relevance of these associations. However, few studies have focused specifically on populations with heart failure or clinically relevant biomarkers, and the evidence for gaseous pollutants remains inconclusive. These findings highlight the need to integrate environmental risk assessment into heart failure care and inform policy efforts to reduce the pollution-related cardiovascular burden. Further research should address these gaps through improved exposure assessments and the integration of mechanistic evidence.
Heart Failure/epidemiology*
;
Biomarkers/metabolism*
;
Humans
;
Air Pollution/adverse effects*
;
Air Pollutants/adverse effects*
;
Particulate Matter/adverse effects*
;
Environmental Exposure
;
Natriuretic Peptide, Brain/blood*
;
Oxidative Stress
;
Troponin/blood*
4.Impact of inhaled corticosteroid use on elderly chronic pulmonary disease patients with community acquired pneumonia.
Xiudi HAN ; Hong WANG ; Liang CHEN ; Yimin WANG ; Hui LI ; Fei ZHOU ; Xiqian XING ; Chunxiao ZHANG ; Lijun SUO ; Jinxiang WANG ; Guohua YU ; Guangqiang WANG ; Xuexin YAO ; Hongxia YU ; Lei WANG ; Meng LIU ; Chunxue XUE ; Bo LIU ; Xiaoli ZHU ; Yanli LI ; Ying XIAO ; Xiaojing CUI ; Lijuan LI ; Xuedong LIU ; Bin CAO
Chinese Medical Journal 2024;137(2):241-243
5.Clinical characteristics of children with cerebral palsy complicated with epilepsy
Jia-Yang XIE ; Guo-Hui NIU ; Deng-Na ZHU ; Jun WANG ; Hong-Xing LIU ; Xin WANG ; Ting-Ting LI ; Meng-Meng ZHANG
Medical Journal of Chinese People's Liberation Army 2024;49(10):1144-1149
Objective To explore the clinical characteristics of pediatric patients with cerebral palsy(CP)who also have comorbid epilepsy.Methods A retrospective analysis was conducted on the clinical data of 155 pediatric patients with CP and comorbid epilepsy admitted to the Third Affiliated Hospital of Zhengzhou University from January 2019 to December 2022.Patients were divided into 4 groups based on CP subtype:spastic diplegia group(n=29),spastic hemiplegia group(n=33),spastic quadriplegia group(n=73),and non-spastic group(n=20).Differences in sex,season of birth,birth weight,gestational age,and the relationship between gestational age and weight were compared among the groups.Additionally,the relationships between perinatal risk factors,MRI classification system(MRICS),gross motor function classification system(GMFCS),and the age of the first onset of epilepsy with respect to CP subtype were analyzed.Results Among the 155 patients,101 were male and 54 were female.A lower proportion of patients with spastic hemiplegia was observed with a gestational age of 28-31+6 weeks compared with those with spastic diplegia and spastic quadriplegia(P=0.009).The proportion of patients with a history of asphyxia in spastic hemiplegia group was significantly lower than that in the other 3 groups,and the proportion of patients with hypoxic-ischemic encephalopathy(HIE)in spastic hemiplegia group was significantly lower than in that both spastic quadriplegia group and non-spastic group(P<0.05).The proportion of patients in spastic quadriplegia group who had their first seizure at an age of<1 year was significantly higher than that in spastic diplegic group(P=0.041).The spastic diplegia group exhibited a higher percentage of white matter damage compared with the other 3 groups,and had a lower percentage of gray matter damage compared with both spastic hemiplegic group and non-spastic group(P=0.001).The proportion of patients with GMFCS levels Ⅳ-Ⅴ in spastic quadriplegia group was higher than those in the other 3 groups(P<0.001),and the proportion of patients with levels Ⅰ-Ⅲ in spastic hemiplegia group was significantly higher than those in spastic quadriplegia group and non-spastic group(P<0.001).Conclusion Significant differences were observed among pediatric patients with different subtypes of CP and comorbid epilepsy in factors such as gestational age,history of asphyxia,HIE history,age of first seizure,MRICS classification and GMFCS levels.
6.Establishment of droplet digital PCR for detected HIV-1 intact proviral DNA
Lin HE ; Xiaojie LAO ; Yuanyuan ZHANG ; Shujia LIANG ; Dan LI ; Lingjie LIAO ; Hui XING ; Kunxue HONG ; Liying MA
Chinese Journal of Experimental and Clinical Virology 2024;38(1):86-92
Objective:To establishment an assay for HIV-1 intact proviral DNA assay through droplet digital PCR (ddPCR).Methods:DNA was extracted by culturing 8E5 cells, a Tlymphocyte cell line containing a single copy of integrated HIV-1 provirus. Serial diluting DNA were prepared by amplified 1-fold, 5-fold, 25-fold, 625-fold, 3 125-fold, and 15 625-fold across the HIV-1 Ψ region, env region, and eukaryotic chromosome 10 RPP30 regions, and the linear relationship was calculated and the minimum detection concentration. DNA solution of 5 μl, 3.1 μl, 2.5 μl was added to the ddPCR mixture respectively, with each dilution undergoing two batches of detection, and each was repeated four times. The intra-batch variation coefficient was detected, while the inter-batch variation coefficient was detected by the same DNA amount and different DNA amounts to determine the stability; 8E5 cell was used to detect the intact proviral content in cells.Results:The linear fitting goodness of Ψ region, env region and RPP30 region are R2≥0.999, R2≥0.993, R2≥0.996 in 6 dilutions of DNA, respectively. At a 3 125-fold dilution, the lowest positive droplets were detected in the Ψ region, env region and RPP30 region were 3, 2 and 2, respectively, the detected concentrations were 2.37 copies/μl, 1.21 copies/μl and 1.58 copies/μl. The ddPCR repeatability experimental detecting DNA showed that the Ψ region of the intra-batch variation coefficients ranged from 0.66% to 3.43%, with the inter-batch variation coefficients of the same DNA at 3.19%, 4.3% and 3.45% respectively, and the inter-batch variation coefficients of the different DNA at only 4.35%. The env region of the intra-batch variation coefficients ranged from 0.7% to 3.20%, with the inter-batch variation coefficients of the same DNA at 3.18%, 4.52% and 3.4% respectively, and the inter-batch variation coefficients of the different DNA at only 4.02%. The RPP30 region of the intra-batch variation coefficients ranged from 0.91% to 2.91%, with the inter-batch variation coefficients of the same DNA at 3%, 4.55% and 3.37% respectively, and the inter-batch variation coefficients of the different DNA at only 3.98%. The proportion of 8E5 cells containing defective provirus and the proportion of intact provirus were calculated to be approximately 90% and 45%, respectively. Conclusions:Droplet digital PCR used to detect HIV-1 intact proviral DNA, showed strong stability and provided a technical means for HIV-1 infection reservoir detection.
7.Advances in Single Particle Inductively Coupled Plasma-Mass Spectrometry Analysis of Silver Nanoparticles in Biological Matrices
Guo-Hui XING ; Li-Hong LIU ; Jun-Hui ZHANG ; Bin HE ; Yong-Guang YIN ; Li-Gang HU ; Gui-Bin JIANG
Chinese Journal of Analytical Chemistry 2024;52(10):1413-1423
Silver nanoparticles(AgNPs)is widely used in biomedicine,daily chemicals,food industry and other fields,and the possible negative health effects of its exposure have attracted widespread attention.Accurate analysis of AgNPs in biological matrices is the basis for biosafety studies of AgNPs.Among the existing analytical techniques,single particle-inductively coupled plasma-mass spectrometry(sp-ICP-MS)has significant advantages such as high sensitivity and simultaneous detection of different forms of silver.However,AgNPs in biological matrices is uniquely highly dynamic and low in content,and the matrix interference is severe,which increases the complexity of the analysis.Although some scholars have reviewed the application of this method for detection of metal nanoparticles in different scenarios,there is a lack of a summary of the quality control and optimization of the whole process from the perspective of AgNPs detection.There is still a lack of reference standards for the sp-ICP-MS analysis of AgNPs in biological matrices,and the existing methods need to be summarized and further optimized to achieve accurate quantification.Therefore,this paper reviewed the recent studies on the analysis of silver-containing nanoparticles in biological matrices based on sp-ICP-MS,mainly included the principles of the technique,the extraction methods of the particles,and the process of data processing,which focused on elaborating and comparing different pre-treatment methods,and explored issues of the current application of sp-ICP-MS for detection of AgNPs in biological tissues and the development of future optimization trends.The current problems of sp-ICP-MS for detection of AgNPs in biological tissues and the future development trend were also discussed.
8.Biomarkers Screening and Mechanisms Analysis of the Restraint Stress-Induced Myocardial Injury in Hyperlipidemia ApoE-/-Mice
Shang-Heng CHEN ; Sheng-Zhong DONG ; Zhi-Min WANG ; Guang-Hui HONG ; Xing YE ; Zi-Jie LIN ; Jun-Yi LIN ; Jie-Qing JIANG ; Shou-Yu WANG ; Han-Cheng LIN ; Yi-Wen SHEN
Journal of Forensic Medicine 2024;40(2):172-178
Objective To explore the biomarkers and potential mechanisms of chronic restraint stress-induced myocardial injury in hyperlipidemia ApoE-/-mice.Methods The hyperlipidemia combined with the chronic stress model was established by restraining the ApoE-/-mice.Proteomics and bioinformatics techniques were used to describe the characteristic molecular changes and related regulatory mechanisms of chronic stress-induced myocardial injury in hyperlipidemia mice and to explore potential diagnostic biomarkers.Results Proteomic analysis showed that there were 43 significantly up-regulated and 58 sig-nificantly down-regulated differentially expressed proteins in hyperlipidemia combined with the restraint stress group compared with the hyperlipidemia group.Among them,GBP2,TAOK3,TFR1 and UCP1 were biomarkers with great diagnostic potential.KEGG pathway enrichment analysis indicated that fer-roptosis was a significant pathway that accelerated the myocardial injury in hyperlipidemia combined with restraint stress-induced model.The mmu_circ_0001567/miR-7a/Tfr-1 and mmu_circ_0001042/miR-7a/Tfr-1 might be important circRNA-miRNA-mRNA regulatory networks related to ferroptosis in this model.Conclusion Chronic restraint stress may aggravate myocardial injury in hyperlipidemia mice via ferrop-tosis.Four potential biomarkers are selected for myocardial injury diagnosis,providing a new direction for sudden cardiac death(SCD)caused by hyperlipidemia combined with the restraint stress.
9.The Application Study of Voriconazole and Its Metabolites Concentration Monitoring in Allogeneic Hematopoietic Stem Cell Transplantation Patients
Hong-Chun WANG ; Lei WANG ; Meng LI ; Lei SHI ; Hui-Hui SUN ; Hong-Xing LIU ; Hong-Ling OU
Journal of Experimental Hematology 2024;32(3):945-951
Objective:To explore the application value of simultaneous monitoring of voriconazole(VRCZ)and voriconazole N-oxide(VNO)in efficacy and safety of VRCZ in the prevention and treatment of fungal infections in allogeneic hematopoietic stem cell transplantation(allo-HSCT)patients before engraftment(i.e.,days+1 to+30 after transplantation).Methods:The influencing factors of VRCZ,VNO concentration and MR(CVNO/CVRCz)and the difference of VRCZ in the prevention and treatment of fungal infection and liver and kidney injury were analyzed.The receiver operating characteristic curve(ROC)was used to analyze the differences(the corresponding to the maximum of the Youden index on the curve was set as the cut-off value)to confirm the critical value.Results:The factors affecting VRCZ concentration(CVRCZ),VNO concentration(CVNO)and MR were patient weight,VRCZ daily dose,and transplantation type(all P<0.05).CVRCZ and CVNO in the effective group were higher than those in the ineffective group(P<0.001),the opposite of MR(P<0.001);the liver and renal injury group had lower MR than the normal group(P<0.05).ROC showed that CVRCZ,CVNO and MR had important value in predicting VRCZ in the prevention and treatment of invasive fungal infections in allo-HSCT patients before engraftment,and their cutoff of concentrations were 0.95 μg/ml,1.35 μg/ml and 1.645,respectively(AUC:0.9677,0.7634,0.9564).CVRCZ and MR can assist in indicating liver[cutoff values:0.65 μg/ml,1.96(AUC:0.5971,0.6663)]and renal injury[cutoff values:0.95 μg/ml,1.705(AUC:0.6039,0.6164)].Conclusion:The great value of simultaneous monitoring of VRCZ,VNO and MR can predict in the efficacy and safety of VRCZ in allo-HSCT patients before engraftment.The prediction accuracy of CVRCZ was higher than that of MR,followed by that of CVNO.Increased CVRCZ and decreased MR increase the risk of liver and kidney injury.
10.Analysis of the efficacy and safety of Saccharomyces boulardii in the treatment of pediatric diarrhea
Li-Li MOU ; Xiao-Dan ZHANG ; Lu LIU ; Chun-Hong CHEN ; Zhuo CHEN ; Hui YIN ; Mei-Xing YAN
The Chinese Journal of Clinical Pharmacology 2024;40(17):2575-2579
Objective To compare the efficacy and safety of Saccharomyces boulardii and other probiotics in the treatment of pediatric diarrhea.Methods Retrieved from PubMed,Embase,CBM,Wanfang data,CNKI and VIP,randomized controlled trial(RCTs)about Saccharomyces boulardii(treatment group)vs other probiotics(control group)were collected.After screening the literature,extracting data and evaluating the quality,Meta-analysis was performed by using RevMan 5.3 and Stata 17.0 software.Results A total of 30 RCTs were included,involving 3 082 children.Results of Meta-analysis showed there was no statistical significance in the duration of diarrhea[mean difference(MD)=-0.65,95%confidence interval(CI)=-1.44-0.14,P>0.05]or the total incidence of adverse reactions[odds ratio(OR)=0.85,95%CI=0.44-1.62,P>0.05].The total effective rate(OR=1.60,95%CI=1.08-2.36,P<0.05)and the number of stools(MD=-0.66,95%CI=-1.00--0.32,P<0.01)in the treatment group were significantly better than control group.There was statistically significant difference in the duration of diarrhea between the two groups treated with diarrhea with fever(MD=1.81,95%CI=1.12-2.49,P<0.01)and rotavirus gastroenteritis(MD=-0.92,95%CI=-1.20--0.64,P<0.01).In the treatment of diarrhea with fever,the duration of diarrhea in the control group was significantly shorter than that in the treatment group.The duration of diarrhea in the treatment group was significantly shorter than that control group.At the same time,the duration of diarrhea in children with diarrhea treated with treatment group was significantly shorter than that of control group Bifidobacterium tetragenous viable(MD=-0.84,95%CI=-1.09--0.58,P<0.01)and control group combined Bacillus subtilis and Enterococcus faecium enteric-coated(MD=-1.35,95%CI=-2.30-0.39,P<0.01).Conclusion The safety of Saccharomyces boulardii are similar to other probiotics.The efficacy and the number of stools with Saccharomyces boulardii are significantly better than other probiotics in the treatment of diarrhea.The duration of diarrhea in Saccharomyces boulardii group was significantly shorter than other probiotics,while in the treatment of antibiotic-associated diarrhea,the duration of diarrhea of Saccharomyces boulardii was the same as that of other probiotics.However,the duration of diarrhea in children with diarrhea treated with Saccharomyces boulardii was significantly longer than other probiotics.

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