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.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.
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.Genome-wide DNA methylation and mRNA transcription analysis revealed aberrant gene regulation pathways in patients with dermatomyositis and polymyositis.
Hui LUO ; Honglin ZHU ; Ding BAO ; Yizhi XIAO ; Bin ZHOU ; Gong XIAO ; Lihua ZHANG ; Siming GAO ; Liya LI ; Yangtengyu LIU ; Di LIU ; Junjiao WU ; Qiming MENG ; Meng MENG ; Tao CHEN ; Xiaoxia ZUO ; Quanzhen LI ; Huali ZHANG
Chinese Medical Journal 2025;138(1):120-122
5.Cartilage targeting function in the drug delivery system by intra-articular injection for the treatment of osteoarthritis
Junyan CHEN ; Qingqi MENG ; Siming LI
Chinese Journal of Tissue Engineering Research 2024;28(3):458-463
BACKGROUND:Intra-articular injection played an important role in the treatment of osteoarthritis and has more options with the development of novel drug delivery systems.The cartilage targeting function is aimed at the adhesion or retention of drugs in the cartilage layer to form a drug bank to achieve slow release and precise drug delivery. OBJECTIVE:To review various cartilage targeting biomaterials and their characteristics in the treatment of osteoarthritis by articular injection. METHODS:Using the term"osteoarthritis,drug carrier,drug delivery,cartilage targeting,penetrate"as key words,relevant articles were searched in CNKI,WanFang and PubMed databases.According to inclusion and exclusion criteria,67 articles were finally selected for further review. RESULTS AND CONCLUSION:The research on cartilage-targeting biomaterials is mainly divided into two directions.One is the combination of electrostatic interaction,such as the combination of positively charged biomaterials and negatively charged polysaccharides in cartilage.This kind of scheme is operable and easy to modify,but limited by the shortcomings of electrostatic interaction itself,it performs badly in advanced osteoarthritis.Another one is the specific binding of various components in cartilage which is strong and reliable,and related biomaterials have excellent performance in advanced osteoarthritis,which is an important direction for future cartilage-targeted therapy.
6.Optimization of determination method for residual solvents of esmolol hydrochloride
Siming CHEN ; Xiankun WENG ; Haiyun SUN ; Zongyu LUO
Drug Standards of China 2024;25(2):154-158
Objective:To optimize the detection method for residual solvents of esmolol hydrochloride for control of internal quality.Methods:Gas chromatography headspace injection method was adopted by selecting appropriate headspace equilibrium temperature and time in order to reduce sample contamination of the instrument,optimizing solvent ratio for reducing matrix effect and adjusting carrier gas flow rate and split ratio.Polar capillary column pro-grammed temperature rise method was used with high temperature holding time,etc.,and methodological validation was conducted.Results:Ether,ethyl acetate,methanol,and toluene could all be effectively separated with good precision,and there were good linear relationships between peak areas and mass concentrations.The accuracy of sample spiking at 50%,100%,and 150%concentrations was investigated,and the average recovery rates could all reach ranges of 94.8%-105.6%.Conclusion:This method is accurate,highly sensitive,and overcomes the shortcomings of the Chinese Pharmacopoeia methods.It can be used for the detection of residual solvents in esmolol hydrochloride.
7.Effects of Platelet-Rich Plasma-Derived Exosomes on Proliferation and Migration of Tendon Stem/Progenitor Cell
Molin LI ; Yaqiong ZHU ; Yufei DING ; Dan YI ; Naiqiao GE ; Siming CHEN ; Yuexiang WANG
Acta Academiae Medicinae Sinicae 2024;46(3):307-315
Objective To investigate the effects of platelet-rich plasma-derived exosomes(PRP-Exos)on the proliferation and migration of tendon stem/progenitor cell(TSPC).Methods PRP-Exos were extracted through the combination of polymer-based precipitation and ultracentrifugation.The morphology,concentration,and particle size of PRP-Exos were identified by transmission electron microscopy and nanoparticle tracking analysis.The expression levels of surface marker proteins on PRP-Exos and platelet membrane glycoproteins were deter-mined by Western blot analysis.Rat TSPC was extracted and cultured,and the expression of surface marker mol-ecules on TSPC was detected using flow cytometry and immunofluorescence staining.The proliferation of TSPC in-fluenced by PRP-Exos was evaluated using CCK-8 assay and EdU assay.The effect of PRP-Exos on the migration of TSPC was evaluated by cell scratch assay and Transwell assay.Results The extracted PRP-Exos exhibit typi-cal saucer-like structures,with a concentration of 4.9 ×1011 particles/mL,an average particle size of(132.2±56.8)nm,and surface expression of CD9,CD63 and CD41.The extracted TSPC expressed the CD44 pro-tein.PRP-Exos can be taken up by TSPC,and after co-cultured for 48 h,concentrations of 50 and 100 μg/mL of PRP-Exos significantly promoted the proliferation of TSPC(both P<0.001),with no statistical difference be-tween the two concentrations(P=0.283).Additionally,after co-cultured for 24 h,50 μg/mL of PRP-Exos significantly promoted the migration of TSPC(P<0.001).Conclusion Under in vitro culture conditions,PRP-Exos significantly promote the proliferation and migration of rat TSPC.
8.Fibro-adipose vascular anomaly and intramuscular venous malformation: a clinical and pathological comparative study
Caijun JIN ; Yong CHEN ; Qian WANG ; Min WANG ; Siming YUAN
Chinese Journal of Plastic Surgery 2023;39(3):252-260
Objective:To explore the clinical symptoms, imaging and histopathological features of fibroadipose vascular anomaly (FAVA), and to propose the differential diagnostic criteria for FAVA and intramuscular venous malformation (IMVM).Methods:Clinical data of FAVA and IMVM patients admitted to the Department of Burn and Plastic Surgery, Jinling Hospital of Nanjing Medical University, General Hospital of Eastern Theater Command from January 2016 to December 2020 were retrospectively analyzed. The patients were divided into FAVA group and IMVM group, and the clinical symptoms, coagulation function and imaging results of the two groups were analyzed. The pathological characteristics of the surgically resected specimens were observed by HE staining, and the similarities and differences between FAVA and IMVM were summarized. Pearson chi-square test was used to investigate the occurrence of local intravascular coagulation (LIC) between the two groups, and P<0.05 was considered statistically significant. Results:Fourteen patients were included in FAVA group, including 4 males and 10 females. The age of treatment was (28.2 ± 13.2) years old and the age of onset was (20.5 ± 10.1) years old. A total of 39 patients were included in the IMVM group, including 16 males and 23 females. The age of treatment was (28.5 ± 14.1) years old and the age of onset was (18.8 ± 9.5) years old. The clinical symptoms of FAVA and IMVM patients were pain, swelling and paresthesia. MRI images of the FAVA group showed fat signal in muscle and varicose vascular shadow. The IMVM group showed large irregular vascular shadows in muscle without fat signal. Histopathological observation revealed fibroadipose hyperplasia accompanied by varicose veins in FAVA group. However, in IMVM group, the lesions showed a large number of malformed veins mixed with muscle, without fibroadipose hyperplasia. There were 2 cases of LIC in FAVA group and 21 cases of LIC in IMVM group, the difference was statistically significant ( χ2 =4.39, P=0.036). Conclusion:The clinical symptoms of FAVA and IMVM are similar. The differential diagnosis of FAVA and IMVM requires MRI and pathological examination. The main difference is that there is fibroadipose hyperplasia in FAVA lesion, while there is no fibroadipose hyperplasia in IMVM lesion.
9.Fibro-adipose vascular anomaly and intramuscular venous malformation: a clinical and pathological comparative study
Caijun JIN ; Yong CHEN ; Qian WANG ; Min WANG ; Siming YUAN
Chinese Journal of Plastic Surgery 2023;39(3):252-260
Objective:To explore the clinical symptoms, imaging and histopathological features of fibroadipose vascular anomaly (FAVA), and to propose the differential diagnostic criteria for FAVA and intramuscular venous malformation (IMVM).Methods:Clinical data of FAVA and IMVM patients admitted to the Department of Burn and Plastic Surgery, Jinling Hospital of Nanjing Medical University, General Hospital of Eastern Theater Command from January 2016 to December 2020 were retrospectively analyzed. The patients were divided into FAVA group and IMVM group, and the clinical symptoms, coagulation function and imaging results of the two groups were analyzed. The pathological characteristics of the surgically resected specimens were observed by HE staining, and the similarities and differences between FAVA and IMVM were summarized. Pearson chi-square test was used to investigate the occurrence of local intravascular coagulation (LIC) between the two groups, and P<0.05 was considered statistically significant. Results:Fourteen patients were included in FAVA group, including 4 males and 10 females. The age of treatment was (28.2 ± 13.2) years old and the age of onset was (20.5 ± 10.1) years old. A total of 39 patients were included in the IMVM group, including 16 males and 23 females. The age of treatment was (28.5 ± 14.1) years old and the age of onset was (18.8 ± 9.5) years old. The clinical symptoms of FAVA and IMVM patients were pain, swelling and paresthesia. MRI images of the FAVA group showed fat signal in muscle and varicose vascular shadow. The IMVM group showed large irregular vascular shadows in muscle without fat signal. Histopathological observation revealed fibroadipose hyperplasia accompanied by varicose veins in FAVA group. However, in IMVM group, the lesions showed a large number of malformed veins mixed with muscle, without fibroadipose hyperplasia. There were 2 cases of LIC in FAVA group and 21 cases of LIC in IMVM group, the difference was statistically significant ( χ2 =4.39, P=0.036). Conclusion:The clinical symptoms of FAVA and IMVM are similar. The differential diagnosis of FAVA and IMVM requires MRI and pathological examination. The main difference is that there is fibroadipose hyperplasia in FAVA lesion, while there is no fibroadipose hyperplasia in IMVM lesion.
10.Selection strategy of pedicled axial flaps for repairing high-voltage electric burn wounds in foot and ankle
Haiyan ZHONG ; Yong CHEN ; Xuanyu DU ; Qian WANG ; Min WANG ; Mingli ZOU ; Siming YUAN
Chinese Journal of Burns 2023;39(10):939-946
Objective:To explore the selection strategy of pedicled axial flaps for repairing high-voltage electric burn wounds in foot and ankle.Methods:The retrospective observational research method was used. From January 2017 to December 2022, 16 patients with skin and soft tissue defects in foot and ankle after high-voltage electric burns were treated in General Hospital of Eastern Theater Command, including 11 cases of unilateral defect and 5 cases of bilateral defect. All patients were male, aged from 25 to 75 years. After thorough debridement, the area of the defect to be repaired with the flap was 5.0 cm×4.0 cm to 12.0 cm×8.0 cm. Before operation, the color Doppler ultrasound, computed tomography angiography, or digital subtraction angiography was used to fully evaluate the degree of vascular injury in the affected limb and to identify the distribution and traffic anastomosis of vascular network. Pedicled axial flaps with reliable blood supply were used to repair the wounds as soon as possible, and the area of flaps ranged from 3.0 cm×2.0 cm to 13.0 cm×8.0 cm. The wound in the donor area of flaps was repaired with split-thickness skin graft from head or medium-thickness skin graft from thigh. The flap repair of wounds in various areas of the ankle and foot was recorded. The postoperative survivals of the flaps and skin grafts were observed after surgery. The postoperative appearance of flaps and walking function of patients were followed up. At the last follow-up, the foot and ankle function was evaluated and rated using the American Association of Foot and Ankle Surgeons Ankle Posterior Foot Scoring System.Results:Two wounds in toe area were repaired with reverse dorsal pedis flaps, 3 wounds in medial ankle area and 2 wounds in heel area were repaired with medial plantar flaps, 2 wounds in anterior plantar area combined with toe area were repaired with reverse medial plantar flaps, 2 wounds in anterior plantar area combined with toe area and 5 wounds in anterior plantar area were repaired with reverse medial pedis flaps, 1 wound in toe area was combined with proper plantar digital artery flap, 1 dorsal pedis wound and 1 lateral malleolus wound were repaired with lateral supramalleolar perforator flaps, and 1 lateral malleolus wound and 1 dorsal pedis wound were repaired with sural neurovascular flap. One flap had venous reflux disorder after surgery and survived after treatment, while the other flaps and skin grafts survived completely after surgery. During the follow-up of 6 to 24 months after operation, the appearance of the flaps was good, and the walking function of patients was normal. At the last follow-up, the functional score of foot and ankle was 76 to 95, which was evaluated as excellent in 11 cases and good in 5 cases.Conclusions:According to the condition of high-voltage electric burn in foot and ankle, early and thorough debridement, preoperative imaging examination to evaluate blood vessels of the affected limb, and selection of pedicled axial flap with reliable blood supply are good methods for wound repair and related functional reconstruction of high-voltage electric burn in foot and ankle.

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