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.Toxicological evaluation of aristolochic acid II following single and repeated oral administration over a 24-week period
Yan YI ; Chunying LI ; Yong ZHAO ; Jingzhuo TIAN ; Yuan WANG ; Yushi ZHANG ; Suyan LIU ; Chen PAN ; Lianmei WANG ; Shuangrong GAO ; Jianyin HAN ; Zhong XIAN ; Chenyue LIU ; Dunfang WANG ; Jing MENG ; Meiting LIU ; Aihua LIANG
Science of Traditional Chinese Medicine 2025;3(4):366-377
Background: Aristolochic acid II (AAII), a major nephrotoxic and carcinogenic component of aristolochic acids (AAs), has been less studied compared with its well-characterized analog, aristolochic acid I (AAI). Although AAs are known to induce carcinogenesis via DNA adduct formation, the toxicity mechanisms, environmental prevalence, and long-term health impacts of AAII remain poorly understood. Objective: This study aimed to systematically evaluate AAII’s acute and chronic toxicity, carcinogenic mechanisms, and environmental exposure patterns using integrated murine models and phytochemical analyses to clarify its toxicological profile and associated health risks. Methods: C57BL/6J mice were used in the following experiments: (1) determination of AAII content in 3 commonly used Aristolochia medicinal materials via liquid chromatography-mass spectrometry/mass spectrometry; (2) acute toxicity testing with single doses of 10, 20, or 40 mg/kg; and (3) chronic exposure with 1 or 10 mg/kg administered every other day for 24 weeks, followed by 21 to 40 weeks of postexposure monitoring. Histopathological examination, whole-exome sequencing, biochemical assays, and micronucleus tests were performed to assess multi-organ damage, tumorigenesis, genomic mutation signatures, and direct clastogenicity. Phytochemical analyses were used to evaluate environmental distribution. Results: (1) A single 40 mg/kg dose of AAII induced dose-dependent renal tubular degeneration without hepatotoxicity; (2) the 10 mg/kg group showed significant mortality (20%), tumor incidence (33.3%, primarily forestomach and bladder transitional cell carcinomas), persistent renal interstitial fibrosis, and subclinical hepatic injury. Chronic exposure to 1 mg/kg still induced 13.3% mortality and 15.5% tumor incidence over a 64-week period; (3) whole-exome sequencing revealed a predominance of C>T mutations and pathway enrichment in chemical carcinogenesis and cytochrome P450-mediated metabolism, indicating reactive metabolite-driven mechanisms distinct from classical AA-DNA adducts; and (4) no histopathological changes were observed in nontarget organs (brain, heart, and testes), and micronucleus assays confirmed the absence of direct clastogenicity. Conclusion: This study highlights the delayed carcinogenic risks of low-dose chronic AAII exposure and emphasizes the need to update regulatory frameworks to ensure the safe use of aristolochiaceae-containing herbal products.
4.Flow diverters in aneurysms beyond the circle of Willis: a multicenter retrospective study
Xin FENG ; Chi HUANG ; Runze GE ; Chao PENG ; Zongduo GUO ; Shixing SU ; Xin ZHANG ; Xifeng LI ; Aihua LIU ; Chuanzhi DUAN
Chinese Journal of Neuromedicine 2025;24(1):8-15
Objective:To investigate the efficacy and safety of off-label use of flow diverters (FDs) in aneurysms beyond the circle of Willis.Methods:Seventy-one patients with aneurysms beyond the circle of Willis treated with FDs from January 2016 to September 2023 at Department of Cerebrovascular Surgery, Neurosurgery Center (Zhujiang Hospital of Southern Medical University), Department of Neurosurgery (Guangdong Provincial People's Hospital), Department of Neurosurgery (First Affiliated Hospital of Chongqing Medical University), and Department of Neurosurgery (Beijing Tiantan Hospital, Capital Medical University) were selected. The clinical and imaging data of these patients were analyzed retrospectively, and the clinical characteristics, aneurysm characteristics, endovascular treatments, perioperative complications, and clinical and imaging follow-up results were summarized and analyzed.Results:Among the 71 patients, 22 (31.0%) had ischemic stroke history and 43 (60.6%) had hypertension history. A total of 76 aneurysms were found, including 5 aneurysms (6.6%) at the anterior communicating artery, 10 (13.2%) at the anterior cerebral artery, 53 (69.7%) at the middle cerebral artery, and 8 (10.5%) at the posterior cerebral artery. The median aneurysm size (Inter Quartile Range) was 5.65 (3.63, 10.12) mm, and mean diameter of the parent artery was (2.70±0.57) mm. A total of 80 FDs were used, including 38 (47.5%) Pipeline embolization devices and 42 (52.5%) Tubridge embolization devices; the implantation success rate was 98.8% (79/80). Seven patients (9.9%) had perioperative complications, of which 2 (2.8%) were permanent (1 patient with visual field defect and 1 patient with intracranial hemorrhage). Seventy-one patients had clinical follow-up for (19.73±11.90) months, of which 68 patients (95.8%) had good outcome (modified Rankin scale score of 0-2), 10 patients (14.1%) had ischemic complications, and one patient (1.4%) had hemorrhage complications. Sixty-seven aneurysms (88.2%) underwent angiographic follow-up for 7 (6-12) months, of which 44 aneurysms (65.7%) were completely occluded and 10 (14.9%) had in-stent stenosis.Conclusion:The results of this study preliminarily confirm that off-label use of FDs is relatively safe and effective in aneurysms beyond the circle of Willis.
5.Efficacy and safety of intrasaccular flow disruptor in wide-necked intracranial aneurysms: a multicenter retrospective study
Xiaowen ZHANG ; Jing LI ; Xifeng LI ; Chuanzhi DUAN ; Aihua LIU ; Huaizhang SHI ; Haowen XU ; Nan MA ; Zhiqiang YAO ; Feng FAN ; Chao LIU ; Jinyi LI ; Hailong ZHONG ; Mengyan FAN ; Jiaxin WAN ; Rijin LIN ; Huixiang LIU ; Jiamei ZHANG ; Xin ZHANG ; Sheng GUAN
Chinese Journal of Neuromedicine 2025;24(1):16-22
Objective:To evaluate the efficacy and safety of intrasaccular flow disruptor in wide-necked intracranial aneurysms.Methods:One hundred and seventeen patients with wide-necked intracranial aneurysms treated with intrasaccular flow disruptor were collected from Department of Neurointervention (First Affiliated Hospital of Zhengzhou University), Department of Neurosurgery (Beijing Tiantan Hospital, Capital Medical University), Department of Cerebrovascular Surgery, Neurosurgery Center (Zhujiang Hospital, Southern Medical University), and Department of Neurosurgery (First Affiliated Hospital of Harbin Medical University) from August 2022 to March 2024. Raymond-Roy Occlusion Classification (RROC) was employed to evaluate aneurysm embolization immediately after procedure; cranial CT or MRI within 48 hours of embolization were performed to identify any new intracranial hemorrhage, subarachnoid hemorrhage, or new symptomatic cerebral infarction related to the intracranial aneurysms. Modified Rankin Scale (mRS) was used to assess the neurological function at discharge. Imaging follow-up and outpatient follow-up were performed at 6 months after embolization to evaluate the aneurysm occlusion degree and complications.Results:A total of 117 intrasaccular flow disruptors were implanted in 117 patients, with a technical success rate of 100%; 115 patients (98.3%) enjoyed successful one-time release of their disruptors, and 2 patients (1.7%) required retrieval and redirection of the disruptors before second successful attempt. Flow disruptor plus stent was performed in 13 patients (11.1%). Immediately after procedure, RROC grading I was noted in 3 patients, grading II in 51 patients and grading III in 63 patients. Cranial CT or MRI within 48 hours of embolization indicated no new intracranial hemorrhage, subarachnoid hemorrhage, or symptomatic cerebral infarction related to the intracranial aneurysms. All patients had mRS score of 0 at discharge. Eighty-three patients completed a 6-month follow-up (RROC grading I in 41 patients, grading II in 33 patients and grading III in 9 patients), without ischemic or hemorrhagic adverse events.Conclusion:The results of this study preliminarily suggest that intrasaccular flow disruptor is effective and safe in wide-necked intracranial aneurysms.
6.Neuroform Atlas stent-assisted coil embolization for middle cerebral artery bifurcation aneurysms: a multicenter retrospective study
Mengyan FAN ; Jing LI ; Chuanzhi DUAN ; Huaizhang SHI ; Aihua LIU ; Xiaochuan SUN ; Feng FAN ; Jinyi LI ; Chao LIU ; Haowen XU ; Linyu WANG ; Zhiqiang YAO ; Hailong ZHONG ; Xiaowen ZHANG ; Rijin LIN ; Jiaxin WAN ; Nan ZHANG ; Huixiang LIU ; Jiamei ZHANG ; Sheng GUAN
Chinese Journal of Neuromedicine 2025;24(2):141-146
Objective:To evaluate the efficacy and safety of Neuroform Atlas stent-assisted coil embolization in patients with middle cerebral artery bifurcation aneurysms.Methods:A retrospective analysis was performed; the clinical data of 46 patients with middle cerebral artery bifurcation aneurysms accepted Neuroform Atlas stent-assisted coil embolization in First Affiliated Hospital of Zhengzhou University, Beijing Tiantan Hospital Affiliated to Capital Medical University, First Affiliated Hospital of Harbin Medical University, Zhujiang Hospital of Southern Medical University and First Affiliated Hospital of Chongqing Medical University from January 2022 to March 2024 were collected. There were 28 ruptured aneurysms (60.87%) and 18 unruptured aneurysms (39.13%). Follow-up was performed for more than 3 months; Raymond-Roy grading was used to evaluate the aneurysm embolization immediately after embolization and during follow-up; perioperative hemorrhagic or ischemic complications were recorded; modified Rankin Scale (mRS) was used to evaluate the prognosis of the patients at discharge and during follow-up (mRS score≤2: good prognosis, and mRS score>2: poor prognosis).Results:Coil embolization was successful in all 46 patients. DSA immediately after embolization showed that 41 patients (89.13%) had completely occluded aneurysms (Raymond-Roy grading I), 2 patients (4.35%) had residual aneurysm neck (Raymond-Roy grading Ⅱ) and 3 patients (6.52%) had partially occluded aneurysms (Raymond-Roy grading Ⅲ). Perioperative complications occurred in 5 patients, including 2 with postoperative cerebral infarction, 1 with hydrocephalus, 1 with postoperative pneumonia leading to respiratory failure, and 1 with stent thrombosis during embolization. Both at discharge and 3 months after embolization, 43 patients (93.48%) had good prognosis and 3 patients (6.52%) had poor prognosis. No obvious ischemic complications (such as stent restenosis) or hemorrhagic complications (such as re-rupture of the aneurysms) were found in all patients. Thirty patients (65.22%) had imaging follow-up for 6-12 months: 26 (86.67%) had Raymond-Roy grading I, 3 (10.00%) had Raymond-Roy grading II, and 1 (3.33%) had Raymond-Roy grading III.Conclusion:Neuroform Atlas stent-assisted coil embolization has good short-term efficacy and high safety in middle cerebral artery bifurcation aneurysms, but long-term follow-up observation is still needed to verify its efficacy.
7.Research progress on early screening methods for occupational noise-induced hearing loss
Aihua LI ; Wenyan YU ; Hongyan YANG ; Weihong CAI ; Rui ZHANG ; Haijiang FENG ; Huaiying TAO ; Yixian MA ; Yan YE
Journal of Environmental and Occupational Medicine 2025;42(11):1400-1404
Occupational noise-induced hearing loss (NIHL) is an irreversible sensorineural hearing loss that severely endangers workers’ health, making early screening crucial. This article reviewed the research progress on early screening methods for occupational NIHL, introduced the testing mechanisms of three core screening methods—tympanometry, otoacoustic emissions, and extended high-frequency audiometry —and summarized their clinical application advantages and limitations. It is proposed that multimodal combined detection (e.g., the combination of tympanometry, otoacoustic emissions, and extended high-frequency audiometry) can significantly improve the accuracy and comprehensiveness of early screening. Meanwhile, future studies with prospective cohort design are encouraged to verify the long-term monitoring value of each method and to strengthen the joint development of screening technologies with cutting-edge approaches such as machine learning, in order to further improve screening efficiency and provide stronger protection for workers’ hearing health.
8.Progress on prognosis factors for IgA nephropathy in children
Ni TANG ; Chunhua ZHU ; Aihua ZHANG
International Journal of Pediatrics 2025;52(3):165-169
IgA nephropathy(IgAN)is a common primary glomerular disease in children,characterized by the deposition of IgA or IgA-dominant immune complexes in the glomeruli.The clinical manifestations are highly heterogeneous,with some children progressing to end-stage renal disease.The prognosis of IgAN is influenced by multiple factors,involving clinical,pathological,and laboratory examinations.Among the clinical factors,persistent proteinuria,reduced baseline estimated glomerular filtration rate(eGFR),hypertension during follow-up,and hyperuricemia are risk factors for poor prognosis.The predictive value of hematuria remains controversial.Pathologically,the Oxford classification highlights that segmental sclerosis,tubular atrophy/interstitial fibrosis,and crescents are significantly associated with disease progression,with tubular atrophy/interstitial fibrosis serving as an independent risk factor for poor outcomes.The prognostic significance of mesangial hypercellularity and endocapillary hypercellularity requires further validation.Among the biomarkers,serum galactose-deficient IgA 1 and complement-related markers(such as IgA/C3 ratio)show potential predictive value,but need to be supported by large samples studies.This article reviews the clinical,pathological,and biomarker-related risk factors influencing the prognosis of pediatric IgAN,aiming to provide basis for developing risk prediction models and guiding individualized treatment strategies.
9.Correlations of multimodal ultrasound parameters with Ki-67 and cytokeratin 5/6 in triple-negative breast cancer
Aihua ZHANG ; Qing CANG ; Liang YIN ; Xinhua YE
Journal of Clinical Medicine in Practice 2025;29(6):69-74
Objective To analyze the correlations of multimodal ultrasound parameters with Ki-67 and cytokeratin 5/6(CK5/6)in triple-negative breast cancer(TNBC).Methods A retrospec-tive analysis was conducted on 212 breast cancer patients in Jurong Hospital Affiliated to Jiangsu Uni-versity and Jiangsu Provincial People's Hospital from January 2017 to December 2023.The patients were divided into TNBC group(n=95)and non-TNBC group(n=117).Immunohistochemical stai-ning was used to detect the expression of Ki-67 and CK5/6 in both groups,and the correlations of ul-trasound parameters with Ki-67 and CK5/6 were analyzed.Results In the TNBC group,the positive rates of CK5/6 and Ki-67 were 69.47%(66/95)and 75.79%(72/95)respectively,while in the non-TNBC group,the positive rates were 23.93%(28/117)and 14.53%(17/117)respectively,with significant between-group differences(P<0.05).In the TNBC group,patients with high and low level of CK5/6 showed significant differences in maximum lesion diameter,morphology,margin,aspect ratio,presence of calcifications,posterior acoustic pattern,lymph node metastasis,and distant metastasis(P<0.05);similarly,patients with high and low level of CK5/6 demonstrated significant differences in distribution,enhancement pattern,and perfusion defects(P<0.05);patients with high and low level of Ki-67 also exhibited significant differences in maximum lesion diameter,mor-phology,margin,aspect ratio,presence of calcifications,posterior acoustic pattern,lymph node me-tastasis,and distant metastasis(P<0.05);additionally,patients with high and low level of Ki-67 showed significant differences in the enhanced range,distribution,and enhancement pattern(P<0.05).Multivariate analysis revealed that clear margin,calcifications,and enhanced range were in-dependent influencing factors for CK5/6 positivity(P<0.05),while enhancement pattern and en-hanced range were independent influencing factors for Ki-67 positivity(P<0.05).Conclusion Ki-67 and CK5/6 have higher positive expression rates in TNBC patients,and multimodal ultrasound pa-rameters are correlated with Ki-67 and CK5/6.
10.Administration of Psoralea corylifolia L. (Buguzhi) during pregnancy causes mild liver injury in mouse mothers and weaned offspring
Chenyue LIU ; Jingzhuo TIAN ; Yan YI ; Chunying LI ; Yong ZHAO ; Jiayin HAN ; Lianmei WANG ; Suyan LIU ; Yushi ZHANG ; Chen PAN ; Shasha QIN ; Jing MENG ; Sulakkana NOIPRASERT ; Aihua LIANG
Science of Traditional Chinese Medicine 2025;3(2):168-177
Background: Psoralea corylifolia L. (Buguzhi, BGZ), known for its efficacy in supporting pregnancy and preventing miscarriage, has been used in China for over 1000 years. Recently, BGZ has been identified as a potential cause of drug-induced liver injury. However, its safety during pregnancy remains unclear, which significantly hinders its routine clinical application. Objective: To investigate the effects of BGZ administration during pregnancy on the liver of mouse mothers and their weaned 21-day-old offspring. Methods: Mice were orally administered BGZ at doses of 2.5 and 10 g/kg during pregnancy, with BGZ withdrawal during the lactation period. Liver histopathology (hematoxylin-eosin staining), biochemical analysis, and evaluation of liver bile acid metabolism were performed after the lactation period. Results: BGZ administration at doses of 2.5 and 10 g/kg during pregnancy, followed by withdrawal during the lactation period, caused mild liver damage in both mothers and their 21-day-old offspring. Serum total bile acid (TBA) levels were elevated compared with those in the control group. Additionally, changes were observed in the levels and proportions of various bile acids (BAs) in the liver, suggesting mild effects on BA metabolism. Conclusion: BGZ administration during pregnancy caused mild liver damage and increased serum TBA levels in both mouse mothers and their 21-day-old offspring. This phenomenon may be associated with imbalanced BA metabolism in the liver. Based on the present study and the limited toxicological research on BGZ, pregnant women should avoid prolonged use of BGZ. If BGZ is administered during pregnancy, serum TBA levels should be monitored, and if elevated, BGZ should be discontinued.


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