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.Evaluation Value of Blood Biomarker Tests for Efficacy of EGFR-TKI in Advanced NSCLC Treatment
Rui FAN ; Yonghui WU ; Zhan GU ; Yanbin PENG ; Lixin WANG
Cancer Research on Prevention and Treatment 2025;52(5):382-387
Objective To analyze the levels of serum CTCs and ctDNA in NSCLC patients receiving first-line EGFR-TKI treatment, and to explore the clinical value of CTCs and ctDNA detection in assessing the efficacy of treatment for advanced lung cancer. Methods A total of 109 NSCLC patients receiving first-line EGFR-TKI treatment were enrolled. Serum tumor markers CEA, CTCs, and ctDNA were detected at baseline and after one month of treatment. Chest CT scans were performed, and treatment efficacy was evaluated based on RECIST1.1 criteria. CTCs were counted by enrichment-staining-computational algorithm to analyze malignant features, while ctDNA was assessed using digital PCR. Results Survival rate was low in patients with abnormal CEA and ctDNA tests at baseline and in patients with reduced serum CTCs after treatment. In the SD subgroup of patients with brain metastases and advanced stage, the PFS benefit was low. Conclusion Patients in the SD subgroup have significantly higher recurrence risks than those in the PR or CR subgroups. Therefore, CTC and ctDNA testing should be applied to patients in the SD subgroup to identify high-risk patients with poor response to EGFR-TKI treatment, intervene with additional treatment promptly, and obtain long progression-free survival.
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.CT manifestations and clinical features of thymic lymphoepithelioma-like carcinoma in children and literature review
Lixin YANG ; Di HU ; Zhonglong HAN ; Shuangfeng YANG ; Yun PENG
Journal of Practical Radiology 2024;40(5):789-792
Objective To investigate the CT manifestations and clinical features of thymic lymphoepithelioma-like carcinoma(LELC)in children.Methods The CT findings and clinical features of 5 children with LELC confirmed by pathology were analyzed retrospectively,and relevant literatures were reviewed.Results All the five children showed a large soft tissue mass(a few punctuate calcifications in 3 cases)in the anterior and middle mediastinum,which was lobulated.After enhancement,the tumor showed signifi-cant heterogeneous enhancement with cystic,necrosis,compressing,surrounding and invading adjacent structures.Twenty-one children with LELC were searched in literatures.Conclusion Thymic LELC in children usually occurs in adolescent boys aged 10-16 years.Those children usually go to the doctor with symptoms of tumor compression or invasion of adjacent structures.LELC shows advanced clinical stage with poor prognosis.CT enhancement can accurately display the lesion and invasion of adjacent structures,and guide clinical staging and treatment.
6.CT and MRI features of intraosseous myofibroma/myofibromatosis in children
Lixin YANG ; Xingfeng YAO ; Xiaolu TANG ; Rongchang WU ; Yun PENG
Journal of Practical Radiology 2024;40(8):1334-1337
Objective To investigate the CT and MRI features of intraosseous myofibroma/myofibromatosis in pediatric patients.Methods The retrospective analysis involved the examination of clinical data and imaging findings from 15 children who were diagnosed with myofibroma/myofibromatosis of bone invasion through pathological means.Subsequently,the imaging characteristics were summarized.Results CT examinations were conducted on a total of 15 patients,with 2 of them also received enhanced scans.Additionally,MRI examinations were conducted on 5 patients,with 3 of them also underwent enhanced scans.Eleven patients were diagnosed with solitary type myofibroma,with 7 cases localized in the skull and the remaining lesions observed in the maxillofacial bone.Three patients exhibited the multicentric type without any involvement of visceral organs,while one patient presented with the multicentric type accompanied by visceral involvement.The lesions exhibited a uniform soft-tissue density on plain CT scan,predominantly located between the inner and outer layers of the bone.Additionally,they displayed swelling changes and osteolytic bone destruction,with some lesions showed residual bone shell.On MRI,the lesions exhibited a uniform signal,demonstrated an isointense or slightly hypointense signal on T1WI and an isointense or slightly hyperintense signal on T2WI.The lesions displayed significantly heterogeneous enhancement on CT and MRI.Conclusion The imaging manifestations of intraosseous myofibroma/myofibromatosis in pediatric patients exhibit certain characteristics,and the residual bone shell in the lesion is helpful for diagnosis,however,distinguishing it from Langerhans cell histiocytosis of the bone remains challenging,necessitating the reliance on pathological diagnosis.
7.The clinical application of metal supported multi-sided versus ordinary ultra-fine drainage tube in the uniportal video-assisted thoracoscopic lower pulmonary lobectomy: A retrospective cohort study
Zhiwei HAN ; Peng YUE ; Minjie MA ; Lixin LIU ; Wenteng HU ; Qiong LI ; Biao HAN
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2024;31(07):980-984
Objective To investigate the clinical effect of metal supported multi-sided versus ordinary ultra-fine drainage tube in the uniportal video-assisted thoracic surgery (VATS) lower pulmonary lobectomy. Methods From January 2021 to June 2022, the clinical data of patients who underwent uniportal VATS lower lobectomy in our hospital were retrospectively analyzed. According to the different types of ultra-fine drainage tubes used in the surgery, the patients were divided into an experimental group (using multi-sided hole 10F ultra-fine drainage tubes with metal support) and a control group (using ordinary 12F ultra-fine drainage tubes). The clinical data of the two groups were compared. Results A total of 190 patients were enrolled, including 108 males and 82 females. There were 90 patients in the experimental group aged 56.60±10.14 years; and 100 patients in the control group aged 57.07±11.04 years. The incidences of postoperative lung infection and pleural effusion in the experimental group were lower than those in the control group, with statistically significant differences (P<0.05). The postoperative visual analogue scale score, the need to adjust the chest drainage tube after the surgery, the need for chest puncture after the surgery, the time of postoperative chest tube removal, and the hospitalization cost were statistically different (P<0.05). There was no statistical difference in the length of postoperative hospital stay or the incidences of postoperative lung leakage, arrhythmia, and atelectasis complications (P>0.05). Conclusion Compared with the ordinary ultra-fine drainage tubes, multi-sided hole ultra-fine drainage tubes with metal support can reduce the incidences of lung infection and pleural effusion complications after the uniportal VATS lower lobectomy, reduce the pain and economic burden, which can be applied in the uniportal VATS lower lobectomy.
8.Establishment and Exploration of Core Competency Oriented Training Program for Neurology Resident
Lixin ZHOU ; Ying TAN ; Fei HAN ; Ming YAO ; Linzhi LUO ; Jun NI ; Bin PENG ; Liying CUI ; Yicheng ZHU
Medical Journal of Peking Union Medical College Hospital 2024;15(4):973-980
Resident training is a necessary path to cultivate excellent clinical doctors. Based on the
9.Serum TSH levels in women aged 40 and above : association with lifespan and 10-year mortality
Ping XU ; Nianchun PENG ; Miao ZHANG ; Ying HU ; Rui WANG ; Juan HE ; Qiao ZHANG ; Lixin SHI
Chinese Journal of Endocrinology and Metabolism 2024;40(2):132-138
Objective:To investigate the relationship between thyroid-stimulating hormone(TSH) levels and 10-year mortality in women aged 40 years and older.Methods:Residents aged 40 and over in urban areas of Guiyang City who participated in the " Epidemiological Study of Cancer Risk in Patients with Type 2 Diabetes in China(REACTION)" were followed up in 2011. Finally, 5 614 people were enrolled, and the baseline general information, physical examination and TSH detection were carried out. The average follow-up was(9.77±1.55) years, and the treatment and death of thyroid-related diseases were recorded. The Cox proportional hazards model was used to analyze the relationship between TSH level and 10-year mortality in middle-aged and elderly women, and plotting survival time curves(Kaplan-Meier curves) to study the association between elevated TSH levels and lifespan in subjects under 65 years old. Results:The multivariate Cox proportional hazards model showed that compared with the normal group, after multivariate adjustment, the risk of death in the TSH increased group was decreased( HR=0.644, 95% CI 0.478-0.868, P<0.05); after stratifying the elevated TSH group, the risk of death was decreased in the slightly elevated TSH group( HR=0.566, 95% CI 0.405-0.791, P<0.001); the elevated TSH group was further stratified by age. In the group under 65 years old, compared to the normal group, the mildly elevated group showed a reduced risk of mortality( HR=0.429, 95% CI 0.245-0.751, P=0.003). In the group aged 65 and above, there were no statistically significant differences in mortality risk between the mildly elevated group, severely elevated group, and the normal group( P>0.05). In the group under 65 years old, the K-M curve indicated that the survival rate of the mildly elevated TSH group was significantly higher than that of the normal group( χ2=11.931, P=0.003), the difference was statistically significant. Conclusion:Mildly elevated TSH levels in women aged 40-65 years are associated with a reduced risk of all-cause death and longer lifespan.
10.A cohort study of ten-year cardiovascular disease risk among subtypes of pre-diabetes population aged 40 and above in Guiyang urban area
Yi CHEN ; Nianchun PENG ; Miao ZHANG ; Ying HU ; Rui WANG ; Juan HE ; Qiao ZHANG ; Lixin SHI
Chinese Journal of Endocrinology and Metabolism 2024;40(5):373-379
Objective:To investigate the 10-years risk for cardiovascular diseases(CVD) among different subtypes of pre-diabetes(Pre-DM) residents aged 40 and above in Guiyang urban area and to analyze the influencing factors.Methods:A total of 5 798 residents who participated in the " Risk Evaluation of cAncers in Chinese diabe Tic Individuals: a lONgitudinal(REACTION) Study" were selected to undergo oral glucose tolerance test and glycated hemoglobin test. According to the Pre-DM diagnostic criteria, normal glucose tolerance(NGT), impaired fasting glucose(IFG), impaired glucose tolerance(IGT), and diabetes mellitus were defined based on glycated hemoglobin(IA1C), and were combined into four groups: NGT group, single subtype group(IFG, IGT, IA1C), two-subtype combination group(IFG+ IGT, IFG+ IA1C, IGT+ IA1C), and three-subtype combination group(IFG+ IGT+ IA1C). Ten-year cardiovascular disease occurrence was investigated. The logistic regression model was used to analyze the risk of CVD occurrence in different subtypes of Pre-DM residents. Results:(1)The incidence in the single subtype group, two subtypes group and three subtypes group of CVD was 6.6%(182/2 752), 8.4%(135/1 613) and 9.6%(53/551) , respectively, all higher than NGT group at 5.2%(46/882). (2) Regardless of diagnosed by fasting blood glucose, 2 h blood glucose, or glycated hemoglobin, the 10-year CVD incidence rates(8.7%, 8.6%, 7.6%) in Pre-DM were higher than that in the NGT group(5.2%; all P<0.05). (3)After multivariate adjustment, compared with the NGT group, the 10-year CVD risk gradually increased in the single subtype group, two-subtype group, and three-subtype group, with OR of 1.03(95% CI 0.74-1.45), 1.08(95% CI 0.75-1.54), and 1.16(95% CI 0.75-1.78), respectively. Conclusion:The Pre-DM population has a higher 10-year risk for CVD, and the risk increases gradually with the accumulation of subtypes. Therefore the prevention and treatment of CVD should focus on the management of the Pre-DM population.

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