1.Application and Challenges of Induced Pluripotent Stem Cell Technology in Research of Rare Neurodevelopmental Disorders
Yunchen GE ; Bixia ZHENG ; Aihua ZHANG
JOURNAL OF RARE DISEASES 2026;5(1):100-111
Neurodevelopmental disorders (NDDs) are a group of diseases caused by abnormal development of the brain and nervous system, mainly including global developmental disabilities/intellectual disabilities, autism spectrum disorders, attention deficit hyperactivity disorder, and others; at present, certain progress has been made in the research on common NDDs, and some effective therapeutic approaches have been developed, but for rare NDDs such as fragile X syndrome, Rett syndrome, and Dravet syndrome, the elucidation of their pathogenesis and the development of therapeutic strategies still face major challenges due to insufficient clinical samples, the complexity of the brain structure, and the limitations of existing research models. In recent years, induced pluripotent stem cells (iPSCs) technology has achieved breakthrough progress, where the directed differentiation of patient-derived iPSCs into neurons, glial cells, and cerebral organoids, combined with clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR associated protein 9 (Cas9) gene-editing technology, provides a novel research model for exploring the pathogenic mechanisms and therapeutic strategies of rare NDDs, and this paper reviews the research advances and challenges of iPSCs technology in the study of rare NDDs.
2.Retrospective analysis of a tuberculosis outbreak among junior high school students in Chongqing
LI Jianqiong, ZHANG Ting, CHEN Aihua, WANG Qingya, ZHANG Ya, CHEN Jian, TANG Jie, LI Liang
Chinese Journal of School Health 2026;47(5):741-746
Objective:
To analyze changes in tuberculosis infection among junior high school students before and after tuberculosis exposure, so as to provide a reference for improving school tuberculosis prevention and control measures and policy formulation.
Methods:
Retrospectively collect data on a tuberculosis outbreak that occurred in a grade of a junior high school in Chongqing in 2025, including tuberculosis screening records of students in this grade upon their enrollment in 2022 (1 156 students) and after two tuberculosis outbreaks in 2023 (206 students) and 2025 (171 students). The Wilcoxon signed rank test for paired design was used to compare the induration diameters of the subjects, and the Chi square test was adopted to analyze the rate of tuberculosis infection among students.
Results:
In the tuberculosis outbreak in 2023, the rate of tuberculosis infection among close contacts ( 11.84 %) and the rate of tuberculosis infection among freshrman at school enrollment (12.89%) showed no statistically significant difference ( χ 2=0.25, P >0.05). The rate of tuberculosis infection of close contacts in the 2025 tuberculosis outbreak (55.56%) was higher than that in the 2023 outbreak (11.84%) ( χ 2=30.42, P <0.01). Among the 106 students included in the cohort analysis, the median induration diameter was 3.50 (1.50, 7.50) mm in 2023 and 8.75 (4.25, 11.50) mm in 2025, with a statistically significant difference ( Z=-5.76, P <0.01). There was no statistically significant difference between the infection rate in 2022 (16.98%) and that in 2023 (10.38%) ( χ 2=1.96, P =0.16). The infection rate in 2025 (43.40%) was higher than those in 2022 and 2023 ( χ 2=17.55, 29.39, both P <0.017). The seroconversion rate of students in the same class in 2025 ( 58.00 %) was higher than that of students in different classes (16.07%), with a statistically significant difference ( χ 2=20.19, P <0.01). All 72 individuals with latent tuberculosis infections identified during the pandemic in 2023 and 2025 refused to undergo prophylactic treatment.
Conclusions
The lack of preventive treatment may be the underlying cause of the successive outbreaks during the epidemic. Early detection of infection sources and standardized outbreak management are crucial to controlling the spread of the epidemic.
3.Correlation between serum total bile acid level and cognitive function in patients with stable schizophrenia and its predictive value for cognitive impairment
Cong CAO ; Hang YIN ; Xuehao XU ; Fenglan WANG ; Qiuyan LU ; Weishan SUN ; Qin WANG ; Aihua ZHOU
Sichuan Mental Health 2026;39(2):133-139
BackgroundPersistent cognitive impairment is prevalent among patients with stable schizophrenia. While serum total bile acid (TBA) level in acute-phase patients are known to be associated with cognitive dysfunction, the relationship between serum TBA and multi-dimensional cognitive functions in stable phase patients remains unclear. ObjectiveTo investigate the correlation between serum TBA level and cognitive function in patients with stable schizophrenia, and to evaluate its predictive value for cognitive impairment, thereby providing a serological biomarker for the timely identification and objective assessment of cognitive dysfunction. MethodsA cross-sectional study was conducted on 137 inpatients with stable schizophrenia at The Fourth People's Hospital of Yancheng from March to December 2024. All participants met the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5). Cognitive function was evaluated using the Chinese Brief Cognitive Test (C-BCT), patients were categorized into four groups: normal cognition (n=28), mild impairment (n=28), moderate impairment (n=47), and severe impairment (n=34). Fasting venous blood samples were collected, and serum TBA level was quantified using an enzymatic cycle assay. Spearman correlation analysis was ultilized to determine the relationship between serum TBA level, overall cognitive function, and specific cognitive domains. Binary Logistic regression model was used (adjusting for covariates such as age, gender, and disease duration) to analyze the impact of serum TBA level on overall and individual cognitive functions. The predictive value of serum TBA level for overall cognitive impairment was evaluated using receiver operating characteristic (ROC) curve. ResultsSerum TBA levels differed significantly among the four groups (H=18.677, P<0.01). Specifically, serum TBA levels in both the moderate and severe cognitive impairment groups were significantly higher than those in the normal cognitive group (adjusted P<0.01). Serum TBA level was positively correlated with the severity grading of overall cognitive impairment (rs=0.354, P<0.05), and negatively correlated with T-scores on the trail making test (rs=-0.328, P<0.05), continuous performance test (rs=-0.247, P<0.05), digit span (rs=-0.265, P<0.05), and symbol coding (rs=-0.221, P<0.05). Binary Logistic regression analysis identified serum TBA level as an independent risk factor for overall cognitive impairment (OR=1.322, 95% CI: 1.021 - 1.713, P=0.034), with a particularly robust predictive ability for impaired information processing speed (OR=1.325, 95% CI: 1.057 - 1.661, P=0.015). The area under ROC curve (AUC) for serum TBA level in predicting overall cognitive impairment was 0.738, with a sensitivity of 60.61% and a specificity of 78.64%. ConclusionIn patients with stable schizophrenia, elevated serum TBA levels are associated with worse overall cognitive function, as well as deficits in information processing speed, attention, working memory, and executive function. Serum TBA serves as an independent risk factor and exhibits moderate predictive value for overall cognitive impairmen,particularly in the domain of information processing speed. [Funded by Yancheng Municipal Health Commission Medical Research Project (number, YK2024141)]
4.Targeting ER lipid raft-associated 1 reveals a coordinated cholesterol-dependent vulnerability in hepatocellular carcinoma
Yiming ZHANG ; Yushan HOU ; Xinxin WANG ; Kaikun XU ; Pei JIANG ; Siqi WANG ; Huimin KANG ; Hu ZHANG ; Jingzhuo JIN ; Xiaofen HUANG ; Zifeng LIU ; Songpeng YANG ; Jiaqi LIU ; Lingqiang ZHANG ; Fuchu HE ; Chunyan TIAN ; Aihua SUN
Clinical and Molecular Hepatology 2026;32(2):866-883
Background/Aims:
Dysregulated cholesterol metabolism is a hallmark of hepatocellular carcinoma (HCC) that drives tumor initiation and progression. However, clinical targeting of cholesterol metabolism has yielded limited benefits due to stringent feedback in tumor cells. Identifying a central mediator capable of restoring cholesterol homeostasis within the cell’s intrinsically fine-tuned regulatory framework is urgently needed.
Methods:
We integrated a proteomic dataset from patients with cholesterol-dysregulated HCC into a global cholesterol metabolic regulatory network to identify potential therapeutic targets for disrupted cholesterol homeostasis. The prognostic significance of the candidate targets was further validated in an independent cohort through immunohistochemistry. Functional and mechanistic studies were conducted in vitro using HCC cell lines and in vivo using mouse models. The pharmacological efficacy of the candidate agent was evaluated in both subcutaneous and orthotopic HCC mouse models.
Results:
ER lipid raft-associated 1 (ERLIN1), a pivotal regulator of cholesterol metabolism reprogramming, was identified as an independent favorable prognostic indicator in HCC. ERLIN1 constrains HCC progression both in vitro and in vivo by stabilizing the INSIG1–SCAP–SREBP2 axis and maintaining the metabolic balance of intracellular cholesterol. Under hypoxia, impaired factor-inhibiting hypoxia-1-dependent hydroxylation of ASB11 at asparagine residues 90 and 92 enhances ASB11-mediated ERLIN1 degradation. Pharmacological targeting of this axis using zoledronic acid (ZoA) attenuated HCC progression by weakening the ASB11–ERLIN1 interaction and restoring cholesterol homeostasis.
Conclusions
ERLIN1 represents a druggable metabolic vulnerability in cholesterol-dysregulated HCC. Targeting the ASB11–ERLIN1 axis with the clinically approved ZoA reestablishes cholesterol homeostasis and offers a promising therapeutic strategy to overcome the current limitations of cholesterol-targeted HCC therapies.
5.Research the effect of 4℃ refrigerated stored apheresis platelets based on platelet metabolomics
Xiaoye XIA ; Xuejing LI ; Aihua SU ; Xiao HAO ; Hongyan YE
Chinese Journal of Blood Transfusion 2025;38(4):514-521
[Objective] To investigate the differences in metabolomics between apheresis platelets stored at 4℃ and at 22℃ with agitation, aiming to provide a theoretical basis for the cold storage of apheresis platelets. [Methods] Samples were collected at four time points (d1, d5, d10, d15) for platelets stored at 4℃ (experimental group) and two time points (d1, d5) for platelets stored at 22℃ with agitation (control group). Liquid chromatography-tandem mass spectrometry (LC-MS/MS) technology was used to detect changes in platelet metabolome levels under different storage conditions. Platelet functional activity was assessed by thromboelastography (TEG) for maximum amplitude (MA) values and flow cytometry for CD62P activation rates. [Results] Metabolites in the glycolytic pathway, key metabolites in the tricarboxylic acid cycle (citrate, α-ketoglutarate), metabolites in the purine metabolism pathway (adenine, inosine monophosphate, guanine, etc.) and amino acid metabolites significantly decreased by d5 in the control group, whereas they remained stable in the experimental group. The content of fatty acid metabolites, such as prostaglandin G2, 13(S)-HOTrE, and linoleic acid, significantly increased in the control group. Statistically significant differences in MA values were observed between the two groups at d1 and d5 (P<0.05). However, in the experimental group, as the storage time extended, the MA values at d10 and d15 showed no significant difference compared to the control group at d5 (P>0.05). The CD62P activation rate between the two groups was statistically significant (P<0.05). Additionally, the CD62P activation rate of platelets in the 22℃ group increased rapidly from d1, while it rose gradually in the 4 ℃ group. [Conclusion] Platelets stored at 4 ℃ exhibit more stable metabolic activity and slower functional deterioration, which is beneficial for extending the effective storage period of platelets.
6.Comparative analysis of characteristics and functions of exosomes from human induced pluripotent stem cell-derived platelets and apheresis platelets
Weihua HUANG ; Yan ZANG ; Aihua QIN ; Ziyang FENG ; Heshan TANG ; Fei GUO ; Chuyan WU ; Qiu SHEN ; Baohua QIAN ; Haihui GU ; Zhanshan CHA
Chinese Journal of Blood Transfusion 2025;38(9):1154-1161
Objective: To compare the biological characteristics of human induced pluripotent stem cell-derived platelet exosomes (hiPSC-Plt-Exos) with those of conventional apheresis platelet exosomes (Plt-Exos), specifically focusing on their differential abilities to enhance the proliferation and migration of human umbilical cord mesenchymal stem cells (hUC-MSCs). Methods: Exosomes were isolated from hiPSC-derived Plt and apheresis Plt concentrate using size exclusion chromatography. These exosomes were then characterized through nanoparticle tracking analysis (NTA), transmission electron microscopy (TEM), and Western blotting. Co-culture experiments into hUC-MSCs were conducted with hiPSC-Plt-Exos and apheresis Plt-Exos, respectively. Their effects on the proliferation and migration of hUC-MSCs were assessed via cell proliferation assays and scratch tests. Results: hiPSC-Plt-Exos and apheresis Plt-Exos exhibited comparable particle sizes, morphological features (such as the characteristic cup-shaped structure), and surface markers (including CD9 and HSP70). Notably, hiPSC-Plt-Exos demonstrated a significantly greater ability to enhance the proliferation and migration of hUC-MSCs compared to apheresis Plt-Exos (P<0.05). These differences provide critical comparative data for their application in various clinical contexts. Conclusion: This study establishes a theoretical foundation for developing precise therapeutic strategies based on hiPSC-Plt-Exos. Furthermore, it underscores the necessity of selecting the appropriate type of exosomes according to the specific disease microenvironment to achieve optimal therapeutic outcomes.
7.Mechanism of Huanglian Jiedutang in Improving Pyroptosis, Neuroinflammation, and Learning and Cognitive Functions in APP/PS1 Mice Based on NLRP3/Caspase-1/GSDMD Pathway
Wei CHENG ; Shuo YANG ; Zhangxin HE ; Wei CHEN ; Aihua TAN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(12):11-19
ObjectiveTo investigate the mechanism by which Huanglian Jiedutang (HLJDT) inhibits pyroptosis and neuroinflammation in Alzheimer's disease (AD) mice via the NOD-like receptor protein 3 (NLRP3)/cysteinyl aspartate-specific protease-1 (Caspase)-1/gasdermin D (GSDMD) pathway. MethodsThirty APP/PS1 double transgenic mice were randomly and evenly divided into the model group (model group), the positive control group (Donepezil group, 0.65 mg·kg-1), and the HLJDT treatment group (HLJDT group, 5.2 g·kg-1). Ten C57BL/6 mice were assigned to the blank control group (control group). The Morris water maze and novel object recognition tests were used to evaluate learning and memory abilities. Nissl staining was employed to observe the morphology, quantity, and distribution of neurons in the hippocampal region. Golgi staining was used to examine the morphology and density of neuronal dendritic spines in the hippocampus. Real-time quantitative polymerase chain reaction (Real-time PCR) was performed to detect the mRNA expression of neuroinflammation-related factors and genes in the NLRP3/Caspase-1/GSDMD pyroptosis pathway in the hippocampus. Western blot was used to detect the expression of postsynaptic density protein 95 (PSD95), amyloid precursor protein (APP), inflammatory factors including nuclear factor-κB (NF-κB), phosphorylated NF-κB (p-NF-κB), tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β), as well as pyroptosis pathway-related proteins including NLRP3, Caspase-1, GSDMD, and GSDMD-N. ResultsCompared with the control group, the model group exhibited significantly decreased learning and memory abilities (P<0.01), reduced numbers of neurons in the hippocampal CA3 region and dendritic spines in the hippocampal CA1 region (P<0.01), and significantly increased hippocampal mRNA expression levels of NLRP3, Caspase-1, GSDMD, NF-κB, TNF-α, IL-1β, and IL-18 (P<0.01). Protein levels of PSD95 were markedly decreased, while the expression levels of NLRP3, Caspase-1, GSDMD, p-NF-κB/NF-κB, TNF-α, IL-1β, and APP were significantly elevated (P<0.01). Compared with the model group, both the Donepezil and HLJDT groups showed significantly improved learning and memory abilities (P<0.05, P<0.01), increased numbers of hippocampal neurons in the hippocampal CA3 region and dendritic spines in the hippocampal CA1 region (P<0.01), and significantly decreased hippocampal mRNA expression levels of NLRP3, Caspase-1, GSDMD, NF-κB, TNF-α, IL-1β, and IL-18 (P<0.05, P<0.01). Protein levels of NLRP3, Caspase-1, GSDMD, p-NF-κB/NF-κB, TNF-α, IL-1β, and APP were significantly downregulated, while PSD95 expression was significantly upregulated (P<0.05, P<0.01). There was no statistically significant difference in GSDMD-N levels in the Donepezil group, while GSDMD-N expression was significantly decreased in the HLJDT group (P<0.05). ConclusionThis study confirms that HLJDT can improve learning and memory abilities in APP/PS1 double transgenic mice, and attenuate neuronal loss and synaptic damage, possibly through inhibition of pyroptosis via the NLRP3/Caspase-1/GSDMD pathway.
8.Mechanism of Huanglian Jiedutang in Improving Pyroptosis, Neuroinflammation, and Learning and Cognitive Functions in APP/PS1 Mice Based on NLRP3/Caspase-1/GSDMD Pathway
Wei CHENG ; Shuo YANG ; Zhangxin HE ; Wei CHEN ; Aihua TAN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(12):11-19
ObjectiveTo investigate the mechanism by which Huanglian Jiedutang (HLJDT) inhibits pyroptosis and neuroinflammation in Alzheimer's disease (AD) mice via the NOD-like receptor protein 3 (NLRP3)/cysteinyl aspartate-specific protease-1 (Caspase)-1/gasdermin D (GSDMD) pathway. MethodsThirty APP/PS1 double transgenic mice were randomly and evenly divided into the model group (model group), the positive control group (Donepezil group, 0.65 mg·kg-1), and the HLJDT treatment group (HLJDT group, 5.2 g·kg-1). Ten C57BL/6 mice were assigned to the blank control group (control group). The Morris water maze and novel object recognition tests were used to evaluate learning and memory abilities. Nissl staining was employed to observe the morphology, quantity, and distribution of neurons in the hippocampal region. Golgi staining was used to examine the morphology and density of neuronal dendritic spines in the hippocampus. Real-time quantitative polymerase chain reaction (Real-time PCR) was performed to detect the mRNA expression of neuroinflammation-related factors and genes in the NLRP3/Caspase-1/GSDMD pyroptosis pathway in the hippocampus. Western blot was used to detect the expression of postsynaptic density protein 95 (PSD95), amyloid precursor protein (APP), inflammatory factors including nuclear factor-κB (NF-κB), phosphorylated NF-κB (p-NF-κB), tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β), as well as pyroptosis pathway-related proteins including NLRP3, Caspase-1, GSDMD, and GSDMD-N. ResultsCompared with the control group, the model group exhibited significantly decreased learning and memory abilities (P<0.01), reduced numbers of neurons in the hippocampal CA3 region and dendritic spines in the hippocampal CA1 region (P<0.01), and significantly increased hippocampal mRNA expression levels of NLRP3, Caspase-1, GSDMD, NF-κB, TNF-α, IL-1β, and IL-18 (P<0.01). Protein levels of PSD95 were markedly decreased, while the expression levels of NLRP3, Caspase-1, GSDMD, p-NF-κB/NF-κB, TNF-α, IL-1β, and APP were significantly elevated (P<0.01). Compared with the model group, both the Donepezil and HLJDT groups showed significantly improved learning and memory abilities (P<0.05, P<0.01), increased numbers of hippocampal neurons in the hippocampal CA3 region and dendritic spines in the hippocampal CA1 region (P<0.01), and significantly decreased hippocampal mRNA expression levels of NLRP3, Caspase-1, GSDMD, NF-κB, TNF-α, IL-1β, and IL-18 (P<0.05, P<0.01). Protein levels of NLRP3, Caspase-1, GSDMD, p-NF-κB/NF-κB, TNF-α, IL-1β, and APP were significantly downregulated, while PSD95 expression was significantly upregulated (P<0.05, P<0.01). There was no statistically significant difference in GSDMD-N levels in the Donepezil group, while GSDMD-N expression was significantly decreased in the HLJDT group (P<0.05). ConclusionThis study confirms that HLJDT can improve learning and memory abilities in APP/PS1 double transgenic mice, and attenuate neuronal loss and synaptic damage, possibly through inhibition of pyroptosis via the NLRP3/Caspase-1/GSDMD pathway.
9.Investigation and analysis of medical radiation application frequency in Jinan City, China
Guoying NING ; Aihua ZHAI ; Jiangbo XIN ; Yujiang GU ; Yiwen QIN ; Wei ZHU
Chinese Journal of Radiological Health 2025;34(2):198-203
Objective To investigate and analyze the resources and application frequency of radiological diagnosis and treatment in Jinan City in 2023 and provide a basis for the rational application of radiological diagnosis and treatment resources and strengthening radiological health protection management. Methods The health administrative department issued a work plan. A general survey was conducted on radiological diagnosis and treatment institutions (excluding dental clinics) in Jinan City using a questionnaire. The survey covered the basic information of the radiological diagnosis and treatment institutions, the distribution of the radiological diagnosis and treatment equipment, the number of radiological workers, and the frequency of radiological diagnosis and treatment. Results There were 301 radiological diagnosis and treatment institutions in Jinan City, with
10.Analysis of the comparison results of dental CBCT phantoms in radiological health technical service institutions in Guangdong Province, China
Xuan LONG ; Hongwei YU ; Zhan TAN ; Lei CAO ; Weixu HUANG ; Huifeng CHEN ; Aihua LIN
Chinese Journal of Radiological Health 2025;34(2):219-224
Objective To understand the situation of dental cone beam computed tomography (CBCT) quality control testing phantoms in radiation health technical service institutions in Guangdong province, analyze the differences among different phantoms, and provide a reference for dental CBCT quality control testing. Methods The testing phantoms of 49 radiation health technical service institutions were used as the research objects. The designated CBCT equipment was used for scanning and imaging. The Z-score method was used to evaluate the high-contrast resolution, low-contrast resolution, and distance measurement deviation of each phantom. Results The satisfaction rates of various items for the phantoms in 49 institutions ranged from 85.7% to 100%. The distance measurement deviations of four institutions were “suspicious”, and the high-contrast resolution of four institutions and the distance measurement deviation of one institution were “unsatisfactory”. Conclusion The overall performance of dental CBCT quality control testing phantoms in radiological health technical service institutions in Guangdong province is satisfactory. However, there are still some phantoms with poor results in items such as distance measurement deviation and high-contrast resolution. The structural design, material selection, and manufacturing process of the phantom may all affect the results of quality control testing. Therefore, appropriate phantoms, optimized exposure conditions, and suitable reconstruction algorithms should be used in CBCT quality control testing to ensure accurate and reliable measurements.


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