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.Sports injury prediction model based on machine learning
Mengli WEI ; Yaping ZHONG ; Huixian GUI ; Yiwen ZHOU ; Yeming GUAN ; Shaohua YU
Chinese Journal of Tissue Engineering Research 2025;29(2):409-418
BACKGROUND:The sports medicine community has widely called for the use of machine learning technology to efficiently process the huge and complicated sports data resources,and construct intelligent sports injury prediction models,enabling accurate early warning of sports injuries.It is of great significance to comprehensively summarize and review such research results so as to grasp the direction of early warning model improvement and to guide the construction of sports injury prediction models in China. OBJECTIVE:To systematically review and analyze relevant research on sports injury prediction models based on machine learning technology,thereby providing references for the development of sports injury prediction models in China. METHODS:Literature search was conducted on CNKI,Web of Science and EBSCO databases,which mainly searched for literature related to machine learning techniques and sports injuries.Finally,61 articles related to sports injury prediction models were included for analysis. RESULTS AND CONCLUSION:(1)In terms of external risk feature indicators,there is a lack of competition scenario indicators,and the inclusion of related feature indicators needs to be further improved to further enrich the dimensions of the dataset for model training.In addition,the inclusion feature weighting methods of the sports injury prediction model are mainly based on filtering methods and the use of embedding and wrapping weighting methods needs to be strengthened in order to enhance the analysis of the interaction effects of multiple risk factors.(2)In terms of model body training,supervised learning algorithms become the mainstream choice.Such algorithms have higher requirements for the completeness of sample labeling information,and the application scenarios are easily limited.Therefore,the application of unsupervised and semi-supervised algorithms can be increased in the later stage.(3)In terms of model performance evaluation and optimization,the current studies mainly adopt two verification methods:HoldOut crossover and k-crossover.The range of AUC values is(0.76±0.12),the range of sensitivity is(75.92±11.03)%,the range of specificity is(0.03±4.54)%,the range of F1 score is(80.60±10.63)%,the range of accuracy is(69.96±13.10)%,and the range of precision is(70±14.71)%.Data augmentation and feature optimization are the most common model optimization operations.The accuracy and precision of the current sports injury prediction model are about 70%,and the early warning effect is good.However,the model optimization operation is relatively single,and data augmentation methods are often used to improve model performance.Further adjustments to the model algorithm and hyperparameters are needed to further improve model performance.(4)In terms of model feature extraction,most of the internal risk profile indicators included are mainly based on anthropometrics,training load,years of training,and injury history,but there is a lack of sports recovery and physical function indicators.
3.Comprehensive analysis of genes related to endometrial receptivity and alternative splicing events in northwest Tibetan cashmere goats
Ji DE ; Langda SUO ; Yuchen WEI ; Bin WANG ; Awangcuoji ; Renqingcuomu ; Jiuzeng CUI ; Lei ZHANG ; Gui BA
Chinese Journal of Tissue Engineering Research 2025;29(7):1429-1436
BACKGROUND:Endometrial receptivity is a key factor in embryo implantation in northwest Tibetan cashmere goats,and the expression of genes related to endometrial receptivity and their variable splicing are still unclear. OBJECTIVE:To analyze and explore genes and variable splicing events related to endometrial receptivity in northwest Tibetan cashmere goats. METHODS:On days 5 and 15 of pregnancy(representing pre receptive endometrium group and receptive endometrium group),three northwest Tibetan cashmere goats were randomly selected.Endometrial tissue was collected and stained with hematoxylin and eosin to observe tissue morphology.Immunohistochemical staining was used to detect the expression of endometrial receptive marker proteins leukemia inhibitory factor and vascular endothelial growth factor.After the total RNA was extracted and the quality test was qualified,transcriptome sequencing was performed to search differentially expressed mRNAs,lncRNAs,circRNAs,and miRNAs,perform functional prediction,and analyze alternative splicing mRNAs and lncRNAs related to endometrial receptivity. RESULTS AND CONCLUSION:(1)Compared with the pre receptive endometrium group,the expression levels of leukemia inhibitory factor and vascular endothelial growth factor proteins in the endometrial tissue of the receptive endometrium group were significantly increased.(2)The sequencing results showed that the differentially expressed genes were mostly mRNA and lncRNA genes,including 250 upregulated mRNAs,193 upregulated lncRNAs,135 downregulated mRNAs,and 123 downregulated lncRNAs,which were significantly enriched in the Wnt,Hedgehog,and Hippo signaling pathways.(3)Alternative splicing event analysis uncovered 8 differentially expressed variable splicing transcripts,which were all mRNA transcripts,including 2 downregulated and 6 upregulated,and were significantly associated with vascular endothelial growth factor receptor signaling,cell motility,and embryonic development.
4.HerbRNomes: ushering in the post-genome era of modernizing traditional Chinese medicine research
Yu TIAN ; Hai SHANG ; Gui-bo SUN ; Wei-dong ZHANG
Acta Pharmaceutica Sinica 2025;60(2):300-313
With the completion of the "Human Genome Project" and the smooth progress of the "Herbal Genome Project", the research wave of RNAomics is gradually advancing, opening the research gateway for the modernization of traditional Chinese medicine (TCM) and initiating the post-genome era of medicinal plant RNA research. Therefore, this article proposes for the first time the concept of HerbRNomes, which involves constructing databases of medicinal plant, medicinal fungus, and medicinal animal RNA at different stages, from different origins, and in different organs. This research aims to explore the role of HerbRNA in self-genetic information transmission, functional regulation, as well as cross-species regulation functional mechanisms and key technologies. It also investigates application scenarios, providing a theoretical basis and research ideas for the resistance of TCM or medicinal plants to adversity and stress, molecular assistant breeding, and the development of small nucleic acid drugs. This article reviews recent research progress in elucidating the molecular mechanisms of the transmission and expression of genetic information, self-regulation and cross-species regulation of herbs at the RNA level, along with key technologies. It proposes a development strategy for small nucleic acid drugs based on HerbRNomes, providing theoretical support and guidance for the modernization of TCM based on HerbRNomes research.
5.Research on Magnetic Stimulation Intervention Technology for Alzheimer’s Disease Guided by Heart Rate Variability
Shu-Ting CHEN ; Du-Yan GENG ; Chun-Meng FAN ; Wei-Ran ZHENG ; Gui-Zhi XU
Progress in Biochemistry and Biophysics 2025;52(5):1264-1278
ObjectiveNon-invasive magnetic stimulation technology has been widely used in the treatment of Alzheimer’s disease (AD), but there is a lack of convenient and timely methods for evaluating and providing feedback on the effectiveness of the stimulation, which can be used to guide the adjustment of the stimulation protocol. This study aims to explore the possibility of heart rate variability (HRV) in diagnosing AD and guiding AD magnetic stimulation intervention techniques. MethodsIn this study, we used a 40 Hz, 10 mT pulsed magnetic field to expose AD mouse models to whole-body exposure for 18 d, and detected the behavioral and electroencephalographic signals before and after exposure, as well as the instant electrocardiographic signals after exposure every day. ResultsUsing one-way ANOVA and Pearson correlation coefficient analysis, we found that some HRV indicators could identify AD mouse models as accurately as behavioral and electroencephalogram(EEG) changes (P<0.05) and significantly distinguish the severity of the disease (P<0.05), including rMSSD, pNN6, LF/HF, SD1/SD2, and entropy arrangement. These HRV indicators showed good correlation and statistical significance with behavioral and EEG changes (r>0.3, P<0.05); HRV indicators were significantly modulated by the magnetic field exposure before and after the exposure, both of which were observed in the continuous changes of electrocardiogram (ECG) (P<0.05), and the trend of the stimulation effect was more accurately observed in the continuous changes of ECG. ConclusionHRV can accurately reflect the pathophysiological changes and disease degree, quickly evaluate the effect of magnetic stimulation, and has the potential to guide the pattern of magnetic exposure, providing a new idea for the study of personalized electromagnetic neuroregulation technology for brain diseases.
6.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.
7.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.
8.Analysis of The Characteristics of Brain Functional Activity in Gross Motor Tasks in Children With Autism Based on Functional Near-infrared Spectroscopy Technology
Wen-Hao ZONG ; Qi LIANG ; Shi-Yu YANG ; Feng-Jiao WANG ; Meng-Zhao WEI ; Hong LEI ; Gui-Jun DONG ; Ke-Feng LI
Progress in Biochemistry and Biophysics 2025;52(8):2146-2162
ObjectiveBased on functional near-infrared spectroscopy (fNIRS), we investigated the brain activity characteristics of gross motor tasks in children with autism spectrum disorder (ASD) and motor dysfunctions (MDs) to provide a theoretical basis for further understanding the mechanism of MDs in children with ASD and designing targeted intervention programs from a central perspective. MethodsAccording to the inclusion and exclusion criteria, 48 children with ASD accompanied by MDs were recruited into the ASD group and 40 children with typically developing (TD) into the TD group. The fNIRS device was used to collect the information of blood oxygen changes in the cortical motor-related brain regions during single-handed bag throwing and tiptoe walking, and the differences in brain activation and functional connectivity between the two groups of children were analyzed from the perspective of brain activation and functional connectivity. ResultsCompared to the TD group, in the object manipulative motor task (one-handed bag throwing), the ASD group showed significantly reduced activation in both left sensorimotor cortex (SMC) and right secondary visual cortex (V2) (P<0.05), whereas the right pre-motor and supplementary motor cortex (PMC&SMA) had significantly higher activation (P<0.01) and showed bilateral brain region activity; in terms of brain functional integration, there was a significant decrease in the strength of brain functional connectivity (P<0.05) and was mainly associated with dorsolateral prefrontal cortex (DLPFC) and V2. In the body stability motor task (tiptoe walking), the ASD group had significantly higher activation in motor-related brain regions such as the DLPFC, SMC, and PMC&SMA (P<0.05) and showed bilateral brain region activity; in terms of brain functional integration, the ASD group had lower strength of brain functional connectivity (P<0.05) and was mainly associated with PMC&SMA and V2. ConclusionChildren with ASD exhibit abnormal brain functional activity characteristics specific to different gross motor tasks in object manipulative and body stability, reflecting insufficient or excessive compensatory activation of local brain regions and impaired cross-regions integration, which may be a potential reason for the poorer gross motor performance of children with ASD, and meanwhile provides data support for further unraveling the mechanisms underlying the occurrence of MDs in the context of ASD and designing targeted intervention programs from a central perspective.
9.Research progress on impacts of air pollutants, gut microbiota, and seminal microbiota on semen quality
Wenchao XIA ; Jiahua SUN ; Yuya JIN ; Ruixin LUO ; Ruyan YAN ; Yuming GUI ; Yongbin WANG ; Fengquan ZHANG ; Wei WU ; Weidong WU ; Huijun LI
Journal of Environmental and Occupational Medicine 2025;42(8):1003-1008
In recent years, China has been facing the dual challenges of declining fertility rates and births, with male reproductive health issues, especially the decline in semen quality, identified as a pivotal contributor to this phenomenon. Meanwhile, accumulating evidence indicates that air pollutants, an increasingly severe environmental problem, can damage semen quality not only directly through their biological toxicity but also indirectly by disrupting the composition of microbial communities in the gut and semen, thereby dysregulating immune function, endocrine homeostasis, and oxidative stress responses. The gut microbiota and semen microbiota, as important components of the human microecosystem, play crucial roles in maintaining reproductive health. This article comprehensively reviewed the research progress on the potential effects of air pollutants (particulate matter and gaseous pollutants), gut microbiota, and semen microbiota on semen quality. Specifically, it elucidated the mechanisms of interaction between these factors and explored how they affect male fertility.
10.Difference in bilateral lower limb muscle synergy mode for gait in patients after unilateral anterior cruciate ligament reconstruction
Mengli WEI ; Yaping ZHONG ; Yiwen ZHOU ; Huixian GUI ; Yeming GUAN ; Tingting YU
Chinese Journal of Rehabilitation Theory and Practice 2024;30(1):95-104
ObjectiveTo investigate the difference in bilateral lower limb muscle synergy mode during gait in patients after unilateral anterior cruciate ligament reconstruction. MethodsElectromyography from bilateral lower limb muscles during gait were collected from twelve male and eight female patients after unilateral anterior cruciate ligament reconstruction in Affiliated Hospital of Wuhan Sports University, from April to June, 2023. The data were analyzed using non-negative matrix decomposition algorithm to extract the number of muscle synergies in the affected and unaffected legs, the time to peak activation of muscle synergies and the relative weights of the muscles. ResultsSix types of muscle synergy were identified in the unaffected leg of males during gait, while five types were identified in the affected leg, lacking synergy 2 that mainly from the tibialis anterior muscle. Six types of muscle synergy were identified in both legs in females during gait. There was no significant difference in the time to peak activation of muscle synergies between both legs in males (P > 0.05). However, the time to peak activation of muscle synergies increased in females in the affected leg for synergy 3 and synergy 5 (P < 0.05). The relative weight of the rectus femoris was lower in synergy 1 in the affected leg in males (P < 0.05). For female, the relative weight of the vastus lateralis was higher and the relative weight of the biceps femoris was lower in synergy 2 in the affected leg in females (P < 0.05); while the relative weight of the rectus femoris was lower in synergy 3 (P < 0.05), and the relative weight of the biceps femoris was lower in synergy 6 (P < 0.05). ConclusionMales would freeze the muscle synergy dominating ankle dorsiflexion in affected leg to enhance ankle stability, and reduce the relative weight of rectus femoris during the loading response phase to weaken the knee landing cushioning. However, females would delay the activation of synergies dominating in loading response phase and the mid-stance phase, enhance the relative weight of vastus lateralis during the loading response phase, and reduce the relative weights of rectus femoris in the loading response phase and the relative weight of biceps femoris in the mid-stance phase, to limit knee flexion.

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