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.Efficacy and safety of cryoablation combined with Camrelizumab monoclonal antibody in treatment of hepatocellular carcinoma
Changwang ZHANG ; Ninghan WU ; Cong WANG ; Zheng ZHENG ; Siming GAO ; Changpeng ZOU ; Sujing ZHANG ; Na LI
Journal of Clinical Hepatology 2024;40(6):1169-1174
Objective To investigate the efficacy and safety of cryoablation combined with Camrelizumab monoclonal antibody in the treatment of hepatocellular carcinoma(HCC).Methods A total of 103 HCC patients who were admitted to our hospital from June 2020 to June 2023 were enrolled and randomly divided into combined treatment group with 53 patients and control group with 50 patients.The patients in the control group received percutaneous argon-helium cryoablation,and those in the combined treatment group received percutaneous argon-helium cryoablation combined with Camrelizumab monoclonal antibody.The two groups were compared in terms of short-term response,changes in T lymphocyte subsets after treatment,changes in liver function and alpha-fetoprotein(AFP)after treatment,and progression-free survival and overall survival during follow-up.The t-test was used for comparison of normally distributed continuous data between groups,and the chi-square test was used for comparison of categorical data between groups.The Kaplan-Meier method was used to plot survival curves,and the log-rank test was used for comparison of survival time between the two groups.Results The combined treatment group had significantly higher overall response rate and disease control rate than the control group(χ2=4.156 and 4.348,P=0.042 and 0.037).After treatment,the combined treatment group had significant increases in the percentages of CD3+and CD4+T lymphocytes and CD4+/CD8+ratio(P<0.05)and a significant reduction in the percentage of CD8+T lymphocytes(P<0.05),while the control group had no significant changes in T lymphocyte subsets after treatment(P>0.05),and compared with the control group after treatment,the combined treatment group had significantly higher percentages of CD3+and CD4+T lymphocytes and CD4+/CD8+ratio(all P<0.05)and a significantly lower percentage of CD8+T lymphocytes(P<0.05).After treatment,both groups had significant reductions in the levels of alanine aminotransferase(ALT),aspartate aminotransferase(AST),and AFP(all P<0.05)and a significant increase in the level of albumin(Alb)(P>0.05),and compared with the control group after treatment,the combined treatment group had significantly lower levels of ALT,AST,and AFP(all P<0.05)and a significantly higher level of Alb(P<0.05).There were no significant differences in the incidence rates of grade Ⅲ—Ⅳ(moderate to severe)adverse reactions between the two groups(P>0.05).Compared with the control group,the combined treatment group had significantly better median progression-free survival(21.32 months vs 15.31 months,χ2=4.689,P=0.030)and median overall survival(28.36 months vs 20.75 months,χ2=5.030,P=0.025).Conclusion Argon-helium cryoablation combined with Camrelizumab monoclonal antibody can effectively improve short-term response,enhance immune function,and prolong survival time,with a favorable safety profile.
5.PIK3CA-related overgrowth syndrome: a case report
Fei XIONG ; Shiqi WANG ; Siming YUAN
Chinese Journal of Plastic Surgery 2024;40(1):94-98
In August 2022, a patient diagnosed with PIK3CA-related overgrowth syndrome (PROS) was admitted to the Department of Burn and Plastic Surgery of the General Hospital of Eastern Theater Command. A 15-year-old male patient presented with overgrowth of the left lower limb since birth, which had progressive aggravation six months ago, accompanied by erythema and dilated veins (42 cm ×24 cm) on the left waist. MRI showed that the soft tissue of the left and right thighs was asymmetrical. There was soft tissue hypertrophy of the left thigh, vascular malformation on the left waist and a left renal cyst. The vascular malformations on the left waist were treated by sclerotherapy with 3% polydocaol injection, for which the injection volume of was 7.1 ml. Immunohistochemistry of the pathological tissue showed that PIK3CA, AKT and mTOR were positive in vascular endothelial cells and epidermal basal cells. The genetic testing suggested that there was a mutation at c. 3190_3191insA (p.H1065fs) in PIK3CA gene. On the first year after the interventional sclerotherapy, the area of erythema decreased and the overgrowth of the left lower limb did not progress significantly. This case was diagnosed by clinical manifestations, pathological examination and genetic testing, which expanded the clinical phenotype of PROS and PIK3CA mutation spectrum, providing relevant clinical data for the study of this diseases.
6.PIK3CA-related overgrowth syndrome: a case report
Fei XIONG ; Shiqi WANG ; Siming YUAN
Chinese Journal of Plastic Surgery 2024;40(1):94-98
In August 2022, a patient diagnosed with PIK3CA-related overgrowth syndrome (PROS) was admitted to the Department of Burn and Plastic Surgery of the General Hospital of Eastern Theater Command. A 15-year-old male patient presented with overgrowth of the left lower limb since birth, which had progressive aggravation six months ago, accompanied by erythema and dilated veins (42 cm ×24 cm) on the left waist. MRI showed that the soft tissue of the left and right thighs was asymmetrical. There was soft tissue hypertrophy of the left thigh, vascular malformation on the left waist and a left renal cyst. The vascular malformations on the left waist were treated by sclerotherapy with 3% polydocaol injection, for which the injection volume of was 7.1 ml. Immunohistochemistry of the pathological tissue showed that PIK3CA, AKT and mTOR were positive in vascular endothelial cells and epidermal basal cells. The genetic testing suggested that there was a mutation at c. 3190_3191insA (p.H1065fs) in PIK3CA gene. On the first year after the interventional sclerotherapy, the area of erythema decreased and the overgrowth of the left lower limb did not progress significantly. This case was diagnosed by clinical manifestations, pathological examination and genetic testing, which expanded the clinical phenotype of PROS and PIK3CA mutation spectrum, providing relevant clinical data for the study of this diseases.
7.Development of an experience scale for patients with chronic wound debridement and dressing
Yanping SHI ; Ling TIAN ; Zhifei LIU ; Wei ZHANG ; Tianqi LIU ; Jinna WANG ; Siming JIANG ; Yanan CUI ; Zirong LI
Chinese Journal of Medical Aesthetics and Cosmetology 2024;30(3):213-217
Objective:To develop and evaluate a medical experience assessment scale for debridement and dressing change in chronic wound patients in China, and to provide a reference for improving hospital service quality.Methods:Based on the framework of hospital consumer assessment of healthcare providers and systems survey (HCAHPS) in the United States, a preliminary draft of the scale was formed through a literature review and qualitative interviews with 12 chronic wound patients (7 males and 5 females aged 58.1±12.3 years). Five experts were invited for content validity testing, and 191 chronic wound patients (111 males and 80 females aged 53.5±19.1 years) were selected to evaluate the internal consistency reliability, half reliability, retest reliability, and structural validity of the scale.Results:The Chronic Wound Patient Debridement and Dressing Experience Scale covered 5 dimensions with 30 sub-items and 2 comprehensive evaluation items, including demand response, good and friendly communication, professional trust, optimization of the medical treatment process, and encouragement of patient participation. The scale Cronbach′s α coefficient was 0.967 and ranged from 0.890 to 0.962 for each dimension. The overall retest reliability of the scale was 0.940 and ranged from 0.895 to 0.940 for each dimension. The overall half reliability of the scale was 0.923 and ranged from 0.834 to 0.935 for each dimension. 5 factors were extracted, with a cumulative variance contribution rate of 82.061%.Conclusions:Based on the HCAHPS framework in the United States, the Chronic Wound Debridement and Dressing Experience Scale developed has high reliability and validity, and can be used to evaluate the dressing change experience of patients with chronic wounds. It has clinical practice significance for dressing change in chronic wounds.
8.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.
9.Effect of esketamine combined with transversus thoracis plane block on stress response and inflammation level in patients undergoing cardiac valve replacement
Xiaoyu KANG ; Siming SONG ; Yulin ZHONG ; Liuyu LU ; Xiaotong QIN ; Yonghao WANG ; Yang LU ; Zheng GONG
The Journal of Practical Medicine 2024;40(21):3082-3089
Objective To investigate the impact of esketamine hydrochloride in combination with ultrasound-guided transverse thoracic muscle plane block on stress response and inflammatory levels in patients undergoing cardiac valve replacement under general anesthesia.Methods A total of 120 patients who underwent elective extra-corporeal circulation-supported median open heart valve replacement were selected and randomly assigned into four groups using the random number table method:general anesthesia alone(Group G),general anesthesia with intrave-nous administration of esketamine(Group E),general anesthesia with transverse thoracic plane block(Group T),and esketamine combined with transverse thoracic muscle plane block(Group ET);each group consisted of 30 cases.Patients in group E and group ET received a continuous infusion of esketamine hydrochloride injection at a rate of 0.2 mg/kg-1?h-1 until the completion of the surgical procedure,while patients in group G and group T received an equivalent volume of saline solution until the completion of the surgical procedure.After the induction of general anesthesia,patients in group T and group ET underwent ultrasound-guided bilateral transverse thoracic muscle plane block,while patients in group G and group E did not receive any specific intervention.All four groups received identical protocols for anesthesia induction and maintenance,with self-controlled intravenous analgesic pumps administered to all patients postoperatively.The following time points were recorded:1 day prior to surgery(T0),pre-induction of anesthesia(T1),1 minute post-tracheal intubation(T2),1 minute post-median sternotomy(T3),1 minute prior to initiation of cardiopulmonary circulation(T4),1 minute after cessation of cardiopulmonary circula-tion(T5),1 minute after completion of surgery(T6),1 day post-surgery(T7),2 days post-surgery(T8),and 3 days post-surgery(T9).Mean Arterial Pressure(MAP)and Heart Rate(HR)were continuously monitored from T1 to T6.The levels of blood glucose and lactate were measured and recorded at T1,T4 to T6.The levels of White Blood Cells(WBC)and C-Reactive Protein(CRP)were assessed at T0,as well as at T7 to T9.The occurrence of postoperative adverse reactions was documented in all four groups.Results(1)Comparison of hemodynamics among the four groups:Compared with group G,there was a significant decrease in MAP and HR at T3 in group T(P<0.05).At the T5 time point,MAP was lower in group ET compared to group E,while HR was higher in group ET compared to group T(P<0.05).(2)The lactate and blood glucose levels of the four patient groups after extracorporeal circulation transfer were higher than those at the T1 time point(P<0.05).Patients in group E had lower lactate values at the T5 time point and lower blood glucose values at the T6 time point compared to group G(P<0.05).Additionally,patients in group E exhibited lower lactate and blood glucose values at both the T5 and T6 time points compared to those in group T(P<0.05).(3)Compared to T0,the levels of white blood cells(WBC)and C-reactive protein(CRP)were increased in all four groups after surgery(P<0.05).At the T7 time point,the WBC levels in group E and group T were significantly lower than those in group G(P<0.05).Furthermore,compared to group E and group T,the level of WBC in group ET was significantly lower at T7,while the level of CRP was significantly lower at T8(P<0.05).(4)There were no significant differences observed in postoperative adverse reactions among the four groups(P>0.05).Conclusion Combining low-dose esketamine hydrochloride with transverse thoracic muscle plane block under general anesthesia during open heart valve replacement surgery can effectively stabilize the patient's hemodynamics,mitigate perioperative stress response and postoperative inflammation levels,thereby demonstrating significant clini-cal utility.
10.Effect of ultrasound-guided lower back quadrate fascia block combined with dexmedetomidine in analgesia after cesarean section
Baoguo WANG ; Pinfei LI ; Xuan GUO ; Siming HONG
Chinese Journal of Endocrine Surgery 2024;18(3):450-455
Objective:To study the efficacy of ultrasound-guided lower back quadrate fascia plane block combined with dexmedetomidine in postoperative analgesia after cesarean section.Methods:98 cases of women who underwent cesarean section in our hospital from Jan. 2021 to Jan. 2024 were selected, and all patients were divided into control group and study group with 49 cases each using random number table method. Both groups received routine cesarean section, the control group was given quadrate fascia plane block, and the study group was given quadrate fascia plane block combined with dexmedetomidine. The postoperative recovery, pain score, sufentanil dosage, sleep quality and incidence of adverse reactions were compared between the two groups.Results:There was no significant difference in age, gestational age or BMI between the two groups ( P>0.05). The first standing time of the study group was (5.52±1.09) h, the walking time of getting out of bed was (7.45±1.79) h, and the colostrum time was (27.61±2.92) h. The three indexes of the control group were (6.94±1.48) h, the walking time of getting out of bed was (9.52±2.03) h, and the colostrum time was (32.08±3.45) h, respectively. The study group was lower than the control group ( P<0.05). The NRS score at rest 12h and 24h after surgery was (2.58±0.53; 1.57±0.68) score, 12h, 24h resting NRS score of control group was 3.54±0.75, 3.12±1.01; The score was lower in the study group than that in the control group ( P<0.05). The NRS scores of 12h and 24h postoperative activities in the study group were (3.61±0.72; The NRS score of 12h and 24h activities in the control group was 4.12±0.79, 3.73±1.08; The score in the study group was lower than that in the control group ( P<0.05). The dosage of sufentanil for 12h, 24h and 48h in the study group was (15.17±3.24; 23.28±4.02; 41.61±4.82) μg, 48h analgesic pump compression times were (2.94±1.22) times, the number of relief analgesia cases were 3 times, the dosage of sufentanil at 12h, 24h, 48h in the control group was (20.08±4.03; 36.14±4.57; 59.33±6.25) μg, 48h analgesic pump compression times were (6.15±1.71) times, the number of relief analgesia cases was 10 times, the study group was lower than the control group ( P<0.05). The PSQI scores at 1d, 2d and 3d were 15.14±1.15; 16.31±1.21; 17.34±1.31 in the control group, while they were 13.25±1.08; 15.28±1.16; 16.45±1.25 in the study group, lower than that in the control group ( P<0.05). The incidence of adverse reactions was 10.20% in the study group and 26.53% in the control group, lower than that in the control group ( P<0.05) . Conclusion:Ultrasound-guided lower back quadrate fascia plane block combined with dexmedetomidine can improve the recovery after cesarean section, reduce the pain after delivery and sufentanil dosage, improve the quality of sleep and reduce adverse reactions, and have a good analgesic effect.

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