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.The laboratory biomarkers of disease activity in ankylosing spondylitis
Siming Gao ; Wei Liu ; Siliang Man ; Hongchao Li ; Hui Song
Acta Universitatis Medicinalis Anhui 2025;60(3):552-557, 564
Objective :
To analyze the correlation between different laboratory biomarkers and disease activity in ankylosing spondylitis and to compare their specificity and sensitivity in assessing disease activity.
Methods :
Spearman correlation or Pearson correlation was used to analyze the correlation between disease activity and laboratory biomarkers. Receiver operating characteristic(ROC) was used to compare the sensitivity and specificity of each laboratory biomarker in evaluating disease activity.
Results :
Hypersensitive C-reactive protein, fibrinogen, D-dimer, erythrocyte sediment rate, C-reactive protein, immuno-inflammatory index(platelet count×neutrophil count/lymphocyte count), fibrinogen/albumin ratio, albumin and pro-albumin were correlated with disease activity. The ratio of fibrinogen to albumin, fibrinogen, erythrocyte sedimentation rate, immuno-inflammatory index, C-reactive protein and hypersensitive C-reactive protein had good values in determining the disease activity.
Conclusion
Different laboratory biomarkers are correlated with the disease activity of ankylosing spondylitis, and some of them have better discriminating values for the disease activity.
5.Application of case-based and problem-based learning methods combined with English teaching in clinical training of plastic surgery postgraduates
Chinese Journal of Medical Aesthetics and Cosmetology 2025;31(3):294-297
Objective:To evaluate the teaching effectiveness of integrating case-based learning (CBL) with problem-based learning (PBL) in English-language instruction for postgraduate students specializing in plastic surgery.Methods:A prospective study was conducted from September 2019 to August 2021, enrolling 60 master ′s degree candidates in plastic surgery from the First Affiliated Hospital of Air Force Medical University. The participants were randomly divided into a study group and a control group, each consisting of 30 students. The study group comprised 18 males and 12 females, aged 20-28 (24.6±4.0) years. The control group included 20 males and 10 females, aged 21-26 (23.6±2.4) years. The control group received traditional teaching methods, while the study group was taught using a combined CBL and PBL approach in English. The scores in professional knowledge, case analysis, clinical skills, and teaching satisfaction were compared between the two groups. Results:The study group achieved higher scores in professional knowledge of (27.0±2.4) vs. (21.0±3.3) scores, case analysis of (26.0±4.1) vs. (24.0±2.5) scores, and clinical skills of (27.0±3.2) vs. (23.0±2.4) scores compared to the control group (all P<0.05). The teaching satisfaction rate in the study group was 100.0% (30/30), which was higher than that of the control group of 86.7% (26/30, P=0.031). Conclusion:The combined use of CBL and PBL in English teaching effectively enhances the teaching outcomes for postgraduate students in plastic surgery, with a high level of student satisfaction.
6.Clinical phenotype and genotype analysis of neuroinflammation, autoinflammation, splenomegaly and anemia syndrome caused by IRAK4 gene variant
Siming PENG ; Sunbixin YUAN ; Zhixing SUN ; Yu ZHANG ; Wei WANG ; Hongmei SONG
Chinese Journal of Pediatrics 2025;63(6):655-659
Objective:To summarize the clinical and genetic features of neuroinflammation, autoinflammation, splenomegaly and anemia (NASA) syndrome and investigate the pathogenic mechanism.Methods:The clinical data of 2 patients diagnosed with NASA syndrome at Department of Pediatrics, Peking Union Medical College Hospital were retrospectively analyzed. Variants were identified by gene panel sequencing and confirmed by Sanger sequencing. The function of IRAK4 gene variants was studied in vitro.Results:Among the 2 patients, case 1 was an 8-year-old girl and case 2 was a 10-year-old boy. Both patients presented in early childhood with anemia and hepatosplenomegaly. Case 1 was also experienced recurrent seizures. Laboratory examinations showed elevated inflammatory markers and neuroimaging revealed bilateral basal ganglia calcification. In case 2, anemia and inflammation markers were well controlled after treatment with tocilizumab, while case 1 succumbed to recurrent seizures. Genetic tests verified compound heterozygous variants in IRAK4 gene: case 1 carries a nonsense variant c.592G>T (p.G198X) and a missense variant c.248A>C (p.D83A), which were respectively from the parents; case 2 carries a c.831+3A>G variant and a frameshift variant c.540delT (p.F180Lfs*26), and the former was inherited from the father and the latter from the mother. The reverse transcription and Sanger sequencing results confirmed that c.831+3A>G variant led to exon 7 skipping. In vitro studies indicated that c.592G>T, c.540delT and c.831+3A>G variants resulted in truncated interleukin-1 receptor-associated kinase-4 (IRAK4) protein while c.248A>C do not cause changes in IRAK4 protein expression level and protein length.Conclusions:NASA syndrome should be considered in children with early-onset anemia, hepatosplenomegaly, recurrent seizures, elevated inflammatory markers and intracranial calcification. IRAK4 gene variants may lead to impaired anti-inflammatory function of IRAK4 protein, contributing to the autoinflammatory phenotype.
7.Clinical phenotype and genotype analysis of neuroinflammation, autoinflammation, splenomegaly and anemia syndrome caused by IRAK4 gene variant
Siming PENG ; Sunbixin YUAN ; Zhixing SUN ; Yu ZHANG ; Wei WANG ; Hongmei SONG
Chinese Journal of Pediatrics 2025;63(6):655-659
Objective:To summarize the clinical and genetic features of neuroinflammation, autoinflammation, splenomegaly and anemia (NASA) syndrome and investigate the pathogenic mechanism.Methods:The clinical data of 2 patients diagnosed with NASA syndrome at Department of Pediatrics, Peking Union Medical College Hospital were retrospectively analyzed. Variants were identified by gene panel sequencing and confirmed by Sanger sequencing. The function of IRAK4 gene variants was studied in vitro.Results:Among the 2 patients, case 1 was an 8-year-old girl and case 2 was a 10-year-old boy. Both patients presented in early childhood with anemia and hepatosplenomegaly. Case 1 was also experienced recurrent seizures. Laboratory examinations showed elevated inflammatory markers and neuroimaging revealed bilateral basal ganglia calcification. In case 2, anemia and inflammation markers were well controlled after treatment with tocilizumab, while case 1 succumbed to recurrent seizures. Genetic tests verified compound heterozygous variants in IRAK4 gene: case 1 carries a nonsense variant c.592G>T (p.G198X) and a missense variant c.248A>C (p.D83A), which were respectively from the parents; case 2 carries a c.831+3A>G variant and a frameshift variant c.540delT (p.F180Lfs*26), and the former was inherited from the father and the latter from the mother. The reverse transcription and Sanger sequencing results confirmed that c.831+3A>G variant led to exon 7 skipping. In vitro studies indicated that c.592G>T, c.540delT and c.831+3A>G variants resulted in truncated interleukin-1 receptor-associated kinase-4 (IRAK4) protein while c.248A>C do not cause changes in IRAK4 protein expression level and protein length.Conclusions:NASA syndrome should be considered in children with early-onset anemia, hepatosplenomegaly, recurrent seizures, elevated inflammatory markers and intracranial calcification. IRAK4 gene variants may lead to impaired anti-inflammatory function of IRAK4 protein, contributing to the autoinflammatory phenotype.
8.Application of case-based and problem-based learning methods combined with English teaching in clinical training of plastic surgery postgraduates
Chinese Journal of Medical Aesthetics and Cosmetology 2025;31(3):294-297
Objective:To evaluate the teaching effectiveness of integrating case-based learning (CBL) with problem-based learning (PBL) in English-language instruction for postgraduate students specializing in plastic surgery.Methods:A prospective study was conducted from September 2019 to August 2021, enrolling 60 master ′s degree candidates in plastic surgery from the First Affiliated Hospital of Air Force Medical University. The participants were randomly divided into a study group and a control group, each consisting of 30 students. The study group comprised 18 males and 12 females, aged 20-28 (24.6±4.0) years. The control group included 20 males and 10 females, aged 21-26 (23.6±2.4) years. The control group received traditional teaching methods, while the study group was taught using a combined CBL and PBL approach in English. The scores in professional knowledge, case analysis, clinical skills, and teaching satisfaction were compared between the two groups. Results:The study group achieved higher scores in professional knowledge of (27.0±2.4) vs. (21.0±3.3) scores, case analysis of (26.0±4.1) vs. (24.0±2.5) scores, and clinical skills of (27.0±3.2) vs. (23.0±2.4) scores compared to the control group (all P<0.05). The teaching satisfaction rate in the study group was 100.0% (30/30), which was higher than that of the control group of 86.7% (26/30, P=0.031). Conclusion:The combined use of CBL and PBL in English teaching effectively enhances the teaching outcomes for postgraduate students in plastic surgery, with a high level of student satisfaction.
9.Research progress of active components and compounds of traditional Chinese medicine improving liver fibrosis by regulating JAK/STAT signaling pathway
Siming DENG ; Lijian LIU ; Liqun LI ; Chengning YANG ; Jinxiu WEI ; Jianfeng LI ; Mingzhu HUANG ; Lili XIE
China Pharmacy 2024;35(15):1923-1927
Hepatic fibrosis is a pathological process of chronic liver injury. Without timely intervention and treatment, liver fibrosis may eventually lead to liver cirrhosis and cancer. Janus kinase (JAK)/signal transducer and activator of transcription (STAT) signaling pathway is closely associated with the occurrence and development of liver fibrosis. Based on this, this paper summarized and analyzed the mechanism and effects of active ingredients and compounds of traditional Chinese medicine improving liver fibrosis based on JAK/STAT signaling pathway. It is found that the active ingredients and compounds of traditional Chinese medicine that promote blood circulation and remove blood stasis (ingredients such as ethanol extract of Euonymus alatus and paclitaxel, as well as compounds such as Ershiwuwei songshi pill and Ganfukang), clear away heat and toxic material (ingredients such as betulinic acid, total flavonoids from Persicaria perfoliata, as well as compounds such as Pianzaihuang and Kehuang capsules), and sooth the liver and promote qi circulation (ingredients such as fraxetin and cucurbitacin B, as well as compounds such as Chaihu shugan powder and Xiaochaihu decoction) can all relieve liver fibrosis by inhibiting the activity of the JAK/STAT signaling pathway, reducing inflammatory reactions, and inhibiting the proliferation of hepatic stellate cells.
10.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.


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