1.Aldehyde Dehydrogenase 2 Gene Mutation May Reduce the Risk of Rupture of Intracranial Aneurysm in Chinese Han Population
Xiheng CHEN ; Siming GUI ; Dachao WEI ; Dingwei DENG ; Yudi TANG ; Jian LV ; Wei YOU ; Jia JIANG ; Jun LIN ; Huijian GE ; Peng LIU ; Yuhua JIANG ; Lixin MA ; Yunci WANG ; Ming LV ; Youxiang LI
Journal of Stroke 2025;27(2):237-249
Background:
and Purpose Ruptured intracranial aneurysms (RIA) are associated with a mortality rate of up to 40% in the Chinese population, highlighting the critical need for targeted treatment interventions for at-risk individuals. Although the impact of aldehyde dehydrogenase 2 (ALDH2) gene mutations on susceptibility to intracranial aneurysms (IA) is well documented, the potential connection between ALDH2 rs671 single-nucleotide polymorphism (SNP) and RIA remains unexplored. Given the increased prevalence of ALDH2 gene mutations among Chinese Han individuals, it is clinically relevant to investigate the link between ALDH2 rs671 SNP and IA rupture.
Methods:
A prospective study was conducted on 546 patients diagnosed with IA to investigate the association between ALDH2 rs671 SNP and the risk of IA rupture.
Results:
The ALDH2 rs671 SNP (ALDH2*2) was significantly more prevalent in patients with unruptured IA (UIA) than in those with RIA (32.56% vs. 18.58%, P=0.004). Multivariate logistic regression analysis revealed that people with the ALDH2 mutation (ALDH2*1/*2 and ALDH2*2/*2 gene type) had a significantly reduced odds ratio (OR=0.49; 95% confidence level [CI] 0.27–0.88; P=0.018) for RIAs. Age-specific subgroup analysis indicated that the ALDH2 mutation provided a stronger protective effect in individuals aged 60 years and above with IA compared to those under 60 years old (OR=0.38 vs. OR=0.52, both P<0.05).
Conclusion
The incidence of RIA was significantly higher in individuals with a normal ALDH2 gene (ALDH2*1/*1) than in those with an ALDH2 rs671 SNP (ALDH2*1/*2 or ALDH2*2/*2). ALDH2 rs671 SNP may serve as a protective factor against RIA in the Chinese Han population.
2.Mechanisms of Spermatogenic Dysfunction and Sperm Quality Degradation Induced by Propylthiouracil via Endoplasmic Reticulum Stress in Rats and Interventional Effect of Shugan Bushen Yulin Decoction
Yuhao MENG ; Xiaocui JIANG ; Min XIAO ; Chaoyang WANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(9):79-89
ObjectiveTo investigate the mechanisms through which Shugan Bushen Yulin decoction ameliorates spermatogenic dysfunction and sperm quality degradation caused by propylthiouracil (PTU) via the endoplasmic reticulum stress pathway in rats. MethodsSixty male rats were randomly assigned into six groups: a control group, a model group, low- (6.75 g·kg-1), medium- (13.5 g·kg-1), and high-dose (27 g·kg-1) Shugan Bushen Yulin decoction groups, and an L-carnitine (0.27 g·kg-1) group, with ten rats in each group. Other groups except the control group were administrated with PTU (10 mg·kg-1) by gavage for 12 consecutive days. After the completion of modeling, rats were administrated with corresponding agents or normal saline (control group) via gavage for 28 consecutive days. Twenty-four hours after the last administration, rats were sacrificed, and the body and organ (testis, epididymis, and seminal vesicle) weights were measured to calculate the organ indices. Hematoxylin-eosin staining was employed to observe the pathological changes in the testes and epididymis, and the testicular spermatogenic function of rats was scored. Enzyme-linked immunosorbent assay was employed to measure the levels of thyroid-stimulating hormone (TSH), triiodothyronine (T3), thyroxine (T4), follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone (T), estradiol (E2), and malondialdehyde (MDA) and the activities of superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) in the rat serum. Terminal deoxynucleotidyl transferase dUTP nick end labeling was adopted to assess the rate of testicular cell apoptosis. Western blot was conducted to determine the expression levels of glucose-regulated protein 78 (GRP78), CCAAT/enhancer-binding protein homologous protein (CHOP), phosphorylated protein kinase RNA-like endoplasmic reticulum kinase (p-PERK), protein kinase RNA-like endoplasmic reticulum kinase (PERK), phosphorylated eukaryotic translation initiation factor 2α kinase (p-EIF2α), eukaryotic translation initiation factor 2α kinase (EIF2α), and activating transcription factor 4 (ATF4) in the testicular tissue of rats. ResultsCompared with the control group, the model group exhibited reductions in volumes and indexes of testes, epididymides, and seminal vesicles (P<0.01), pathological damage of testes and epididymides, and declines in spermatogenic function and sperm density and motility (P<0.01). In addition, the model group demonstrated elevated serum levels of TSH and MDA, lowered levels of T3, T4, FSH, LH, T, and E2, decreased activities of SOD and GSH-Px (P<0.05, P<0.01), an increased apoptosis rate of testicular cells (P<0.01), and up-regulated expression of GRP78, CHOP, p-PERK/PERK, p-EIF2α/EIF2α, and ATF4 in the testicular tissue (P<0.01). Compared with the model group, Shugan Bushen Yulin decoction at different doses improved the morphology and indexes of testes, epididymides, and seminal vesicles (P<0.05), restored the spermatogenic function (P<0.05, P<0.01), increased the sperm density and motility (P<0.05, P<0.01), and decreased the percentage of apoptotic testicular cells (P<0.05). Furthermore, the decoction lowered the serum level of MDA, elevated the serum levels of FSH, LH, T, and E2, and increased the activities of SOD and GSH-Px (P<0.05, P<0.01). Moreover, the expression levels of GRP78, CHOP, p-PERK/PERK, p-EIF2α/EIF2α, and ATF4 in the testicular tissue were down-regulated (P<0.05, P<0.01). ConclusionShugan Bushen Yulin decoction can ameliorate the spermatogenic dysfunction and sperm quality degradation induced by PTU in a rat model of hypothyroidism by repairing the testicular oxidative damage and regulating the PERK/EIF2α/ATF4 signaling pathway, thereby alleviating spermatogenic cell apoptosis.
3.Aldehyde Dehydrogenase 2 Gene Mutation May Reduce the Risk of Rupture of Intracranial Aneurysm in Chinese Han Population
Xiheng CHEN ; Siming GUI ; Dachao WEI ; Dingwei DENG ; Yudi TANG ; Jian LV ; Wei YOU ; Jia JIANG ; Jun LIN ; Huijian GE ; Peng LIU ; Yuhua JIANG ; Lixin MA ; Yunci WANG ; Ming LV ; Youxiang LI
Journal of Stroke 2025;27(2):237-249
Background:
and Purpose Ruptured intracranial aneurysms (RIA) are associated with a mortality rate of up to 40% in the Chinese population, highlighting the critical need for targeted treatment interventions for at-risk individuals. Although the impact of aldehyde dehydrogenase 2 (ALDH2) gene mutations on susceptibility to intracranial aneurysms (IA) is well documented, the potential connection between ALDH2 rs671 single-nucleotide polymorphism (SNP) and RIA remains unexplored. Given the increased prevalence of ALDH2 gene mutations among Chinese Han individuals, it is clinically relevant to investigate the link between ALDH2 rs671 SNP and IA rupture.
Methods:
A prospective study was conducted on 546 patients diagnosed with IA to investigate the association between ALDH2 rs671 SNP and the risk of IA rupture.
Results:
The ALDH2 rs671 SNP (ALDH2*2) was significantly more prevalent in patients with unruptured IA (UIA) than in those with RIA (32.56% vs. 18.58%, P=0.004). Multivariate logistic regression analysis revealed that people with the ALDH2 mutation (ALDH2*1/*2 and ALDH2*2/*2 gene type) had a significantly reduced odds ratio (OR=0.49; 95% confidence level [CI] 0.27–0.88; P=0.018) for RIAs. Age-specific subgroup analysis indicated that the ALDH2 mutation provided a stronger protective effect in individuals aged 60 years and above with IA compared to those under 60 years old (OR=0.38 vs. OR=0.52, both P<0.05).
Conclusion
The incidence of RIA was significantly higher in individuals with a normal ALDH2 gene (ALDH2*1/*1) than in those with an ALDH2 rs671 SNP (ALDH2*1/*2 or ALDH2*2/*2). ALDH2 rs671 SNP may serve as a protective factor against RIA in the Chinese Han population.
4.Aldehyde Dehydrogenase 2 Gene Mutation May Reduce the Risk of Rupture of Intracranial Aneurysm in Chinese Han Population
Xiheng CHEN ; Siming GUI ; Dachao WEI ; Dingwei DENG ; Yudi TANG ; Jian LV ; Wei YOU ; Jia JIANG ; Jun LIN ; Huijian GE ; Peng LIU ; Yuhua JIANG ; Lixin MA ; Yunci WANG ; Ming LV ; Youxiang LI
Journal of Stroke 2025;27(2):237-249
Background:
and Purpose Ruptured intracranial aneurysms (RIA) are associated with a mortality rate of up to 40% in the Chinese population, highlighting the critical need for targeted treatment interventions for at-risk individuals. Although the impact of aldehyde dehydrogenase 2 (ALDH2) gene mutations on susceptibility to intracranial aneurysms (IA) is well documented, the potential connection between ALDH2 rs671 single-nucleotide polymorphism (SNP) and RIA remains unexplored. Given the increased prevalence of ALDH2 gene mutations among Chinese Han individuals, it is clinically relevant to investigate the link between ALDH2 rs671 SNP and IA rupture.
Methods:
A prospective study was conducted on 546 patients diagnosed with IA to investigate the association between ALDH2 rs671 SNP and the risk of IA rupture.
Results:
The ALDH2 rs671 SNP (ALDH2*2) was significantly more prevalent in patients with unruptured IA (UIA) than in those with RIA (32.56% vs. 18.58%, P=0.004). Multivariate logistic regression analysis revealed that people with the ALDH2 mutation (ALDH2*1/*2 and ALDH2*2/*2 gene type) had a significantly reduced odds ratio (OR=0.49; 95% confidence level [CI] 0.27–0.88; P=0.018) for RIAs. Age-specific subgroup analysis indicated that the ALDH2 mutation provided a stronger protective effect in individuals aged 60 years and above with IA compared to those under 60 years old (OR=0.38 vs. OR=0.52, both P<0.05).
Conclusion
The incidence of RIA was significantly higher in individuals with a normal ALDH2 gene (ALDH2*1/*1) than in those with an ALDH2 rs671 SNP (ALDH2*1/*2 or ALDH2*2/*2). ALDH2 rs671 SNP may serve as a protective factor against RIA in the Chinese Han population.
5.Current status of generalized pustular psoriasis: Findings from a multicenter hospital-based survey of 127 Chinese patients.
Haimeng WANG ; Jiaming XU ; Xiaoling YU ; Siyu HAO ; Xueqin CHEN ; Bin PENG ; Xiaona LI ; Ping WANG ; Chaoyang MIAO ; Jinzhu GUO ; Qingjie HU ; Zhonglan SU ; Sheng WANG ; Chen YU ; Qingmiao SUN ; Minkuo ZHANG ; Bin YANG ; Yuzhen LI ; Zhiqiang SONG ; Songmei GENG ; Aijun CHEN ; Zigang XU ; Chunlei ZHANG ; Qianjin LU ; Yan LU ; Xian JIANG ; Gang WANG ; Hong FANG ; Qing SUN ; Jie LIU ; Hongzhong JIN
Chinese Medical Journal 2025;138(8):953-961
BACKGROUND:
Generalized pustular psoriasis (GPP), a rare and recurrent autoinflammatory disease, imposes a substantial burden on patients and society. Awareness of GPP in China remains limited.
METHODS:
This cross-sectional survey, conducted between September 2021 and May 2023 across 14 hospitals in China, included GPP patients of all ages and disease phases. Data collected encompassed demographics, clinical characteristics, economic impact, disease severity, quality of life, and treatment-related complications. Risk factors for GPP recurrence were analyzed.
RESULTS:
Among 127 patients (female/male ratio = 1.35:1), the mean age of disease onset was 25 years (1st quartile [Q1]-3rd quartile [Q3]: 11-44 years); 29.2% had experienced GPP for more than 10 years. Recurrence occurred in 75.6% of patients, and nearly half reported no identifiable triggers. Younger age at disease onset ( P = 0.021) and transitioning to plaque psoriasis ( P = 0.022) were associated with higher recurrence rates. The median diagnostic delay was 8 months (Q1-Q3: 2-41 months), and 32.3% of patients reported misdiagnoses. Comorbidities were present in 53.5% of patients, whereas 51.1% experienced systemic complications during treatment. Depression and anxiety affected 84.5% and 95.6% of patients, respectively. During GPP flares, the median Dermatology Life Quality Index score was 19.0 (Q1-Q3: 13.0-23.5). This score showed significant differences between patients with and without systemic symptoms; it demonstrated correlations with both depression and anxiety scores. Treatment costs caused financial hardship in 55.9% of patients, underscoring the burden associated with GPP.
CONCLUSIONS
The substantial disease and economic burdens among Chinese GPP patients warrant increased attention. Patients with early onset disease and those transitioning to plaque psoriasis require targeted interventions to mitigate the high recurrence risk.
Humans
;
Male
;
Female
;
Psoriasis/pathology*
;
Adult
;
Cross-Sectional Studies
;
Adolescent
;
Child
;
Young Adult
;
Quality of Life
;
Middle Aged
;
China/epidemiology*
;
Recurrence
;
Risk Factors
;
Surveys and Questionnaires
;
East Asian People
6.Expert consensus on the diagnosis and treatment of cemental tear.
Ye LIANG ; Hongrui LIU ; Chengjia XIE ; Yang YU ; Jinlong SHAO ; Chunxu LV ; Wenyan KANG ; Fuhua YAN ; Yaping PAN ; Faming CHEN ; Yan XU ; Zuomin WANG ; Yao SUN ; Ang LI ; Lili CHEN ; Qingxian LUAN ; Chuanjiang ZHAO ; Zhengguo CAO ; Yi LIU ; Jiang SUN ; Zhongchen SONG ; Lei ZHAO ; Li LIN ; Peihui DING ; Weilian SUN ; Jun WANG ; Jiang LIN ; Guangxun ZHU ; Qi ZHANG ; Lijun LUO ; Jiayin DENG ; Yihuai PAN ; Jin ZHAO ; Aimei SONG ; Hongmei GUO ; Jin ZHANG ; Pingping CUI ; Song GE ; Rui ZHANG ; Xiuyun REN ; Shengbin HUANG ; Xi WEI ; Lihong QIU ; Jing DENG ; Keqing PAN ; Dandan MA ; Hongyu ZHAO ; Dong CHEN ; Liangjun ZHONG ; Gang DING ; Wu CHEN ; Quanchen XU ; Xiaoyu SUN ; Lingqian DU ; Ling LI ; Yijia WANG ; Xiaoyuan LI ; Qiang CHEN ; Hui WANG ; Zheng ZHANG ; Mengmeng LIU ; Chengfei ZHANG ; Xuedong ZHOU ; Shaohua GE
International Journal of Oral Science 2025;17(1):61-61
Cemental tear is a rare and indetectable condition unless obvious clinical signs present with the involvement of surrounding periodontal and periapical tissues. Due to its clinical manifestations similar to common dental issues, such as vertical root fracture, primary endodontic diseases, and periodontal diseases, as well as the low awareness of cemental tear for clinicians, misdiagnosis often occurs. The critical principle for cemental tear treatment is to remove torn fragments, and overlooking fragments leads to futile therapy, which could deteriorate the conditions of the affected teeth. Therefore, accurate diagnosis and subsequent appropriate interventions are vital for managing cemental tear. Novel diagnostic tools, including cone-beam computed tomography (CBCT), microscopes, and enamel matrix derivatives, have improved early detection and management, enhancing tooth retention. The implementation of standardized diagnostic criteria and treatment protocols, combined with improved clinical awareness among dental professionals, serves to mitigate risks of diagnostic errors and suboptimal therapeutic interventions. This expert consensus reviewed the epidemiology, pathogenesis, potential predisposing factors, clinical manifestations, diagnosis, differential diagnosis, treatment, and prognosis of cemental tear, aiming to provide a clinical guideline and facilitate clinicians to have a better understanding of cemental tear.
Humans
;
Dental Cementum/injuries*
;
Consensus
;
Diagnosis, Differential
;
Cone-Beam Computed Tomography
;
Tooth Fractures/therapy*
7.Advances in drug therapy of diabetic retinopathy
Minghao CHEN ; Peiyu LIU ; Xuan WANG ; Yixiang WU ; Yujin JIANG ; Chaoyang ZHANG ; Jingfa ZHANG
Journal of Shanghai Jiaotong University(Medical Science) 2024;44(7):822-829
Diabetic retinopathy(DR)is one of the most common microvascular complications of diabetes and has become one of the leading causes of blindness and visual impairment in diabetes patients.The pathogenesis of DR is multifaceted,involving inflammation,oxidative stress,neurovascular abnormalities,and other factors that present potential targets for disease management interventions.Currently,anti-vascular endothelial growth factor(VEGF)drugs serve as the primary treatment for advanced stages of DR when irreversible neurovascular damage and visual impairment have occurred.Additionally,some patients show poor or no response to anti-VEGF treatment.There is a lack of early intervention options for the initial phases of the disease.Therefore,there is an urgent need to develop novel local or systemic therapies based on the underlying mechanisms of DR to enable early prevention and treatment with the aim of preserving patients' vision.Medications targeting various pathways including anti-inflammatory agents(corticosteroids and nonsteroidal anti-inflammatory drugs),neurotrophic and neuroprotective drugs,drugs modulating biochemical pathways,antioxidant phytochemicals,and gene therapy can complement each other in terms of therapeutic effects to benefit a larger number of individuals affected by DR.This article reviews previous research reports on the pathogenesis,drug treatment methods,and potential therapeutic targets associated with DR in order to provide guidance for clinical practice.
8.Expert Consensus on Clinical Diseases Responding Specifically to Traditional Chinese Medicine:Fibromyalgia Syndrome
Juan JIAO ; Jinyang TANG ; Xiujuan HOU ; Mengtao LI ; Dongfeng LIANG ; Yuhua WANG ; Weixia JING ; Guangtao LI ; Qin ZHANG ; Yongfeng ZHANG ; Guangyu LI ; Qian WANG ; Yang YANG ; Jin HUO ; Mei MO ; Jihua GUO ; Xiaoxiao ZHANG ; Quan JIANG
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(1):216-222
Fibromyalgia syndrome (FMS) is a refractory, chronic non-articular rheumatic disease characterized by widespread pain throughout the body, for which there are no satisfactory therapeutic drugs or options. There are rich Chinese medical therapies, and some non-drug therapies, such as acupuncture, Tai Chi, and Ba-Duan-Jin, have shown satisfactory efficacy and safety and definite advantages of simultaneously adjusting mind and body. FMS is taken as a disease responding specifically to traditional Chinese medicine (TCM) by the National Administration of Traditional Chinese Medicine in 2018. In order to clarify the research progress in FMS and the clinical advantages of TCM/integrated Chinese and Western medicine, the China Academy of Chinese Medicine organized a seminar for nearly 20 experts in Chinese and Western medicine, including rheumatology, psychology, acupuncture and moxibustion, and encephalopathy, with the topic of difficulties in clinical diagnosis and treatment of FMS and advantages of TCM and Western medicine. The recommendations were reached on the difficulties in early diagnosis and solutions of FMS, mitigation of common non-specific symptoms, preferential analgesic therapy, TCM pathogenesis and treatment advantages, and direction of treatment with integrated Chinese and Western medicine. FMS is currently facing the triple dilemma of low early correct diagnosis, poor patient participation, and unsatisfactory benefit from pure Western medicine treatment. To solve the above problems, this paper suggests that rheumatologists should serve as the main diagnostic force of this disease, and they should improve patient participation in treatment decision-making, implement exercise therapy, and fully utilize the holistic and multidimensional features of TCM, which is effective in alleviating pain, improving mood, and decreasing adverse events. In addition, it is suggested that FMS treatment should rely on both TCM and Western medicine and adopt multidisciplinary joint treatment, which is expected to improve the standard of diagnosis and treatment of FMS in China.
9.Research progress of acute idiopathic maculopathy
Yiran JIA ; Libin JIANG ; Chaoyang WANG ; Chunli CHEN
International Eye Science 2024;24(11):1738-1742
Acute idiopathic maculopathy(AIM)is an inflammatory lesion of unknown cause that primarily affects the macula. It follows a unique natural course, distinct from other maculopathy, often manifesting as a sudden loss of visual acuity followed by flu-like symptoms that gradually resolve as the disease subsides. A comprehensive understanding of the unique history, multimodal imaging, and a thorough systematic examination are crucial in determining the final diagnosis of AIM. The treatment and prognosis of AIM remain controversial. Meanwhile, it presents similar clinical manifestations and pathological changes to various chorioretinopathy, posing challenges for clinical differentiation. This article provides a review of its pathogenesis, clinical symptoms, multimodal imaging features, diagnosis and differential diagnosis, treatment and prognosis, in order to reduce misdiagnosis and mistreatment while enhancing comprehension of AIM.
10.Investigate the effect of Shenling Baizhu Powder on the spermatogenic function of the testes in hyperuricemic mice based on ferroptosis
Xiaocui JIANG ; Min XIAO ; Yinjuan LYU ; Chaoyang WANG ; Zhongyi ZHU ; Heng HAO ; Jigang CAO
Journal of Beijing University of Traditional Chinese Medicine 2024;47(8):1100-1110
Objective We aimed to investigate the effect of ferroptosis on Shenling Baizhu Powder,a compound prescription of Chinese herbal medicine,in improving testicular spermatogenic function in hyperuricemic mice with spermatogenic dysfunction. Methods Sixty BALB/c mice were randomly divided into normal group,model group,Shenling Baizhu Powder high-,medium-,and low-dose groups (20.14,10.07,5.04 g/kg,by gavage),and ferrostatin-1(Fer-1) group (0.8 mg/kg,by tail vein injection),with 10 mice each group. Except for the normal group,the other groups were intraperitoneally injected with potassium oxonate suspension[600mg/(kg·d)]for 7 days to establish the hyperuricemic model,and then the corresponding intervention was given for consecutive 14 days. Content of serum uric acid (UA),testicular Fe2+,reduced glutathione (GSH),malondialdehyde (MDA) and superoxide dismutase (SOD) activity were detected by biochemical method. Epididymal and testicular indices were measured. The spermatogenic function of testes was evaluated by eosin-hematoxylin staining. Sperm quality was detected by an automatic animal sperm analyzer. Prussian blue staining was used to detect iron deposition in testicular tissue. Immunohistochemistry was used to detect the related protein expressions of acyl-coenzyme A synthetase long-chain family member 4 (ACSL4) and glutathione peroxidase 4 (GPX4) in testicular tissue. Western blotting was used to detect the related protein expression levels of nuclear factor erythroid 2-related factor 2 (Nrf2)/heme oxygenase-1(HO-1)/GPX4 signaling pathway in testicular tissue. Results Compared with the normal group,the contents of serum UA,MDA,and Fe2+in the testis tissue of the model group were increased,the GSH content and SOD activity were decreased,the epididymal and testicular index,testicular spermatogenic function,sperm density and activity rate were decreased,and the iron deposition and ACSL4 protein expression in the testis tissue were increased. The expressions of kelch-like ECH-associated protein-1 (Keap1) and Nrf2 were increased. The expressions of nuclear Nrf2,HO-1,GPX4,and recombinant solute carrier family 7 member 11 (SLC7A11) protein were decreased (P<0.01). Compared with the model group,the above indexes in the Shenling Baizhu Powder groups and the Fer-1 group were improved to varying degrees (P<0.05,P<0.01). Conclusion Shenling Baizhu Powder can inhibit the ferroptosis of testicular cells through the Nrf2/HO-1/GPX4 signaling pathway,and improve the testicular spermatogenic function of mice with hyperuricemia spermatogenic dysfunction.

Result Analysis
Print
Save
E-mail