1.Shared genetic architecture between arrhythmia and obsessive-compulsive disorder: a heart-brain axis study based on multi-omics integration
Jiaqing XU ; Chen XU ; Xiaochu GU ; Lijun PANG ; Jing SHEN ; Liya YE
Sichuan Mental Health 2026;39(2):149-157
BackgroundArrhythmia and obsessive-compulsive disorder (OCD) frequently co-occur in clinical and epidemiological settings, yet their shared genetic basis and potential heart-brain axis mechanisms remain unclear. ObjectiveTo systematically evaluate the genetic correlation between arrhythmia and OCD, and to elucidate their underlying molecular genetic mechanisms, so as to provide molecular evidence for the "heart-brain axis" to support risk assessment and integrated clinical strategies for these comorbidities. MethodsThe aggregated data from the genome-wide association study (GWAS) of arrhythmia in the UK Biobank (7 207 cases and 477 391 controls) and the GWAS data of OCD released by the Psychiatric Genomics Consortium (2 688 cases and 7 037 controls) were integrated, all of which were limited to individuals of European ancestry. The genome-wide genetic correlations were estimated using the linkage disequilibrium score regression (LDSC) and the high-definition likelihood (HDL). Local genetic correlation analysis was conducted using the local analysis of variance annotation (LAVA). Multi-trait analysis of GWAS (MTAG) was employed to identify pleiotropic loci. Shared risk genes were identified by combining summary-data based Mendelian randomization (SMR) and transcriptome-wide association study (TWAS). Functional enrichment analysis was performed based on the functional mapping and annotation (FUMA) platform. ResultsBoth LDSC (rg=0.248, 95% CI: 0.159–0.336, P=4.82×10-3) and HDL (rg=0.294, 95% CI: 0.237–0.351, P=5.87×10-4) revealed significant positive genetic correlation between arrhythmia and OCD. LAVA identified 23 significantly local correlated regions in the genome (P<2.0×10-5). MTAG discovered 11 genome-wide significant pleiotropic SNPs, among which rs12754189 (intron of KCNN3) had potential functional harmfulness (CADD>12.37). SMR and TWAS jointly identified 20 shared genes, enriched in neural-cardiovascular tissues such as the cerebral cortex, amygdala, and left ventricle, and involved in DNA damage response, RNA metabolism, transcriptional regulation, and FAS signaling pathway (FDR<0.05). ConclusionArrhythmia and OCD share a common genetic basis. The co-morbidity mechanism may involve the common vulnerability of neurons and cardiac muscle cells in terms of gene expression regulation and stress response, supporting the role of the brain-heart axis in the pathophysiology of both conditions.
2.Effect of functional pelvic floor muscle training on stress urinary incontinence in women
Ya'nan LI ; Miao YE ; Juan WU ; Cong CHEN ; Lingfang WAN ; Lili YU ; Linlin GAO ; Yi QIN ; Huafang JING
Chinese Journal of Rehabilitation Theory and Practice 2026;32(6):690-698
ObjectiveTo observe the effect of functional pelvic floor muscle training on pelvic floor muscle function, incontinence symptoms and quality of life in female patients with stress urinary incontinence (SUI). MethodsFrom February, 2024 to July, 2025, 40 female patients with SUI were recruited from Beijing Bo'ai Hospital and advertisements. They were randomly divided into control group (n = 20) and experimental group (n = 20). The control group received conventional pelvic floor muscle contraction and relaxation training, and the experimental group received functional pelvic floor muscle contraction and relaxation training, for eight weeks. The data of pelvic floor muscle strength, pelvic floor muscle surface electromyography (sEMG), 1-hour urine pad test and Incontinence Quality of Life questionnaire (I-QOL) were collected before and after training. The compliance rate was counted after training. ResultsOne case dropped down in the control group and three cases dropped down in the experimental group. After treatment, the pelvic floor muscle strength increased in both groups (|Z| > 3.317, P < 0.01), the pre-resting average value, sustained contraction average value and durable contraction average value of sEMG improved in the control group (|t| > 2.731, P < 0.05), the mass of 1-hour urine pad significantly reduced (t > 9.215, P < 0.001) and the I-QOL score significantly increased (|t| > 13.229, P < 0.001) in both groups; compared with the control group, the pelvic floor muscle strength significantly increased (Z = -2.281, P = 0.023), the mass of 1-hour urine pad significantly reduced (t = 4.215, P < 0.001), the I-QOL score significantly increased (t = -4.501, P < 0.001), and the compliance rate significantly increased (Z = -2.798, P < 0.01) in the experimental group . ConclusionFunctional pelvic floor muscle training can significantly improve pelvic floor muscle strength, incontinence symptoms and quality of life in female patients with SUI.
3.Integrated molecular characterization of sarcomatoid hepatocellular carcinoma
Rong-Qi SUN ; Yu-Hang YE ; Ye XU ; Bo WANG ; Si-Yuan PAN ; Ning LI ; Long CHEN ; Jing-Yue PAN ; Zhi-Qiang HU ; Jia FAN ; Zheng-Jun ZHOU ; Jian ZHOU ; Cheng-Li SONG ; Shao-Lai ZHOU
Clinical and Molecular Hepatology 2025;31(2):426-444
Background:
s/Aims: Sarcomatoid hepatocellular carcinoma (HCC) is a rare histological subtype of HCC characterized by extremely poor prognosis; however, its molecular characterization has not been elucidated.
Methods:
In this study, we conducted an integrated multiomics study of whole-exome sequencing, RNA-seq, spatial transcriptome, and immunohistochemical analyses of 28 paired sarcomatoid tumor components and conventional HCC components from 10 patients with sarcomatoid HCC, in order to identify frequently altered genes, infer the tumor subclonal architectures, track the genomic evolution, and delineate the transcriptional characteristics of sarcomatoid HCCs.
Results:
Our results showed that the sarcomatoid HCCs had poor prognosis. The sarcomatoid tumor components and the conventional HCC components were derived from common ancestors, mostly accessing similar mutational processes. Clonal phylogenies demonstrated branched tumor evolution during sarcomatoid HCC development and progression. TP53 mutation commonly occurred at tumor initiation, whereas ARID2 mutation often occurred later. Transcriptome analyses revealed the epithelial–mesenchymal transition (EMT) and hypoxic phenotype in sarcomatoid tumor components, which were confirmed by immunohistochemical staining. Moreover, we identified ARID2 mutations in 70% (7/10) of patients with sarcomatoid HCC but only 1–5% of patients with non-sarcomatoid HCC. Biofunctional investigations revealed that inactivating mutation of ARID2 contributes to HCC growth and metastasis and induces EMT in a hypoxic microenvironment.
Conclusions
We offer a comprehensive description of the molecular basis for sarcomatoid HCC, and identify genomic alteration (ARID2 mutation) together with the tumor microenvironment (hypoxic microenvironment), that may contribute to the formation of the sarcomatoid tumor component through EMT, leading to sarcomatoid HCC development and progression.
4.Epidemiological characteristics and spatiotemporal aggregation of dengue fever in Fujian Province,2011-2023
Mei-rong ZHAN ; Can-ming ZHANG ; Shao-jian CAI ; Zhong-hang XIE ; Sheng-gen WU ; Wu CHEN ; Jian-ming OU ; Wen-jing YE
Chinese Journal of Zoonoses 2025;41(2):200-207
The epidemiological and spatiotemporal clustering characteristics of dengue fever in Fujian Province were ana-lyzed,to provide a scientific basis for dengue fever prevention and control.Descriptive epidemiology,spatial autocorrelation a-nalysis,and spatiotemporal scanning were used to analyze dengue fever cases in Fujian Province from 2011 to 2023.In this peri-od,a total of 3 586 cases of dengue fever were reported in Fujian Province,including 2 360 local cases,1 134 imported cases from abroad,and 92 imported cases from China.Cases were reported in ten prefectures and cities of the province,and 81 out of 88 counties reported cases.Imported cases were reported throughout the year in Fujian Province,but the occurrence of local ca-ses showed clear seasonality.Local cases and domestic imports were concentrated in August to October,whereas overseas im-ports occurred primarily from June to October.The imported cases were mainly from Southeast Asian countries,but a trend of spreading from Southeast Asian countries to South Asia,Africa,the Americas,and other regions,was observed.Spatio-tem-poral clustering of dengue fever was found in Fujian Province(Moran's I value 0.14-0.66,P<0.05),and the high-high ag-gregation areas were distributed primarily in Fuzhou,Quanzhou,and Putian.Spatio-temporal scanning detected three aggrega-tion areas:one main and two secondary.The aggregation time was from the end of July to October,and the distribution was primarily in Fuzhou,Quanzhou,Putian,Zhangzhou,and Xiamen.The distribution of dengue fever in Fujian Province showed clear spatial and temporal clustering from the end of July to October,and the distribution was primarily in Fuzhou,Quanzhou,Putian,Zhangzhou,and Xiamen.For high concentration areas,national health campaigns,mosquito prevention and control,epidemic surveillance,medical personnel training,and other relevant measures could be carried out in advance before local cases appear every year.Reduce local transmission of dengue fever due to importation.
5.Comparison of Two Methods of LPS-Induced Two-Hit Acute Lung Injury Models and Analysis of Clinical Syndrome Characteristics in Chinese and Western Medicine
Guofeng CHEN ; Junqing LIANG ; Xu HE ; Xiaojia HUANG ; Ye LIN ; Jing SUN ; Yan LI
World Science and Technology-Modernization of Traditional Chinese Medicine 2025;27(8):2340-2350
Objective To explore the efficacy of two lipopolysaccharide(LPS)two-hit methods in establishing an acute lung injury(ALI)mouse model and analyze the characteristics of this model within the context of both Western and traditional Chinese medicine(TCM).Methods Healthy male C57BL/6 mice were randomly divided into six groups:PBS instillation control group,PBS nebulization control group,instillation two-hit group,nebulization two-hit group I,nebulization two-hit group Ⅱ,and nebulization two-hit group Ⅲ.Using LPS as a stimulant,a"two-hit"approach was employed to establish an ALI mouse model.Body temperature,weight,pulse oximetric oxygen saturation(SpO2),lung tissue wet-to-dry weight ratio(W/D),levels of tumor necrosis factor(TNF-α),interleukin-1β(IL-1β),and myeloperoxidase(MPO)activity in lung tissue,as well as total protein concentration and white blood cell count in bronchoalveolar lavage fluid were measured.Through evaluating the consistency between TCM and Western medical syndromes,the classification,characteristics,modeling methods,advantages,and disadvantages of the two-hit ALI animal model were summarized and analyzed based on the clinical diagnostic criteria and syndrome characteristics of ALI in both TCM and Western medicine.Results Compared with the control group,the body temperature,weight,and SpO2 of model group decreased,W/D increased,levels of TNF-α,IL-1β,and MPO activity in lung tissue increased.The alveolar walls thickened with a large exudate of red blood cells.The total protein concentration and white blood cell count in bronchoalveolar lavage fluid significantly increased.The existing two-hit ALI animal model showed a high degree of consistency with Western medical diagnostic main symptoms.Conclusion Both methods of two-hit can prepare mouse ALI models,among which the nebulization two-hit Group Ⅲ showed more pronounced effects in simulating the pathological changes and clinical symptoms of ALI.
6.Practical research on nursing coordination training for rapid sequential intubation in children based on LSPPDM framework
Yu-xia YANG ; Jing HU ; Wei-ming CHEN ; Ye CHENG ; Wei-jie SHEN ; Yi ZHANG ; Ting-ting XUE ; Bei-bei WANG ; Yu-qing WANG ; Pan LIU ; Ying-ying ZHANG ; Guo-ping LU ; Ying GU
Fudan University Journal of Medical Sciences 2025;52(6):847-853
Objective To investigate the practical effects of pediatric rapid sequence intubation(RSI)nursing coordination training based on the LSPPDM(learn,see,practice,prove,do,maintain)framework in order to provide evidence for optimizing pediatric RSI nursing training programs.Methods Nurses from the intensive care unit(ICU)of Children's Hospital,Fudan University during Feb 2023 and Jan 2024 were divided into the experimental group(n=35)and the control group(n=35)by block randomization.The experimental group received LSPPDM framework-based training,while the control group underwent conventional training with theoretical lectures and procedural demonstrations.Outcomes included training satisfaction,theoretical knowledge and procedural skill assessment scores,team collaboration compliance and RSI procedure time were compared between the two groups.Results The experimental group demonstrated significantly higher training satisfaction(123.80±2.04 vs.117.26±9.82,P<0.05),superior post-training theoretical knowledge and procedural skills(P<0.05),enhanced team collaboration compliance(P<0.05),and shorter RSI completion time(P<0.05)compared with the control group.Conclusion Pediatric RSI nursing coordination training based on the LSPPDM framework can effectively increase training satisfaction,promote theoretical and procedural skills and reduce completion time in nurses.
7.Coronary CT angiography radiomics machine learning model combined with pericoronary fat attenuation index for predicting coronary plaques progression
Xinjie SUN ; Kun ZHAO ; Ninggui ZHANG ; Kangzheng YUAN ; Jing YE ; Juan CHEN
Chinese Journal of Interventional Imaging and Therapy 2025;22(2):91-96
Objective To evaluate the value of coronary CT angiography(CCTA)radiomics machine learning(ML)model combined with pericoronary fat attenuation index(FAI)for predicting coronary plaques progression.Methods Totally 194 patients with CCTA showing coronary plaques and received at least one CCTA review afterwards were retrospectively collected.The annual change value of total plaque burden(△TPB/y)was calculated based on the first and last CCTA to assess plaque progression.All patients were categorized into non-progressive(△TPB/y<median △TPB/y)and progressive(△ TPB/y≥median △ TPB/y)groups.The patients were divided into training set(n=155)and validation set(n=39)at the ratio of 8∶2.Univariate and multivariate logistic regression analyses were used to screen clinical and primary CCTA related factors for plaque progression,and CCTA model was constructed.Radiomics features were extracted and screened based on primary CCTA to build ML models using random forest(RF),Gaussian process(GP),partial least squares discriminant analysis(PLS-DA),quadratic discriminant analysis(QDA)and support vector machine(SVM)algorithms.The effectiveness of all models was verified in validation set and the optimal ML model was selected.And its combination with CCTA model constructed combined model.The efficacy of each model for predicting coronary plaques progression was evaluated.Results Of 194 cases,97 were in progressive group and 97 were in non-progressive group.The training set included 77 cases of plaques progression and 78 of plaques non-progression,and the validation set included 20 of plaques progression and 19 of plaques non-progression.FAI was the independent predictor of plaque progression(OR=1.08,P<0.001)and CCTA model was constructed.Ten optimal radiomics features based on training set were selected to build RF,GP,PLS-DA,QDA and SVM models.The area under the curve(AUC)of RF model in training set and validation set were both high,was considered as the optimal ML model.The AUC of CCTA,RF and combined models in training set was 0.684,0.847 and 0.861,respectively,while was 0.629,0.768 and 0.821 in validation set,respectively.Conclusion CCTA radiomics ML model combined with FAI could effectively predict coronary plaques progression.
8.Molecular mechanism of pro-angiogenic factors regulating pannus of rheumatoid arthritis and role of traditional Chinese medicine intervention
Ze-yu HU ; Fang ZHAO ; Jing CHEN ; Ye LIN ; Xiong CAI ; Liang LIU
Chinese Pharmacological Bulletin 2025;41(8):1401-1406
Infiltration of a large number of inflammatory cells in the synovial tissue of rheumatoid arthritis(RA)promotes vascu-lar neovascularisation and the formation of aggressive pannus,which ultimately lead to bone erosion and cartilage destruction,causing irreversible damage to the joints.Numerous studies have demonstrated the role of proangiogenic factors such as growth factors,adhesion factors,angiopoietin 2,matrix metalloproteinas-es,and macrophage migration inhibitory factors in stimulating vascular opacification formation during RA progression.In re-cent years,a variety of traditional Chinese medicines have dem-onstrated inhibitory effects on the formation of pannus.In this paper,we elucidate the mechanism of pro-angiogenic factors in RA and review the latest research results on traditional Chinese medicines that inhibit the formation of pannus through the above mechanisms,so as to provide more research ideas for the treat-ment of RA.
9.Isolation,identification,and biological characterization of enterotoxigenic Escherichia coli from a South China tiger
Jing-ru XU ; Zhi-hao ZHU ; Yu-qi LI ; Si-si FAN ; Ya-li KANG ; Yu-bin ZHUO ; Ling-shan HUANG ; Shu-qi QIU ; XUE-YUXI ; Xiao-ping WU ; Yu-ting LIAO ; Wei-ye LIN ; Xiao-ziyi XIAO ; Xue-jin LI ; Teng-teng CHEN ; Xi-pan LIN ; Kai-xiong LIN ; Ke-wei FAN
Chinese Journal of Zoonoses 2025;41(6):567-573
This study was aimed at identifying the pathogenic bacteria responsible for the death of a young tiger at the Fujian Meihua Mountain South China Tiger Breeding Research Institute.Tissue samples from the lungs,liver,and intestines of the deceased tiger were collected,and the bacteria were cultured inasterile environment.The bacterial strains were characterized according to their morphological and molecular biological properties,including assessment of virulence genes and antibiotic resistance genes,mouse lethality tests,and antibiotic susceptibility evaluations.A predominant bacterial strain isolated from the liver of the deceased tiger was identified as enterotoxigenic Escherichia coli(ETEC)strain Tiger22513F.Phylogenetic analysis of the 16S rRNA gene revealed that the Tiger22513F strain exhibited close genetic similarity to the reference strain ETEC(MF919609.1),with 99.9%nucleotide similarity,and resided on the same evolutionary branch.The Tiger22513F strain contained 11 antibiotic resistance genes(tetA,sul1,sul3,cmlA,floR,blaTEM,blaSHV,blaCMY-2,qnrA,qnrS,and qnrD)along with five virulence genes(VT1,fyuA,tsh,iucD,and ST).Mouse lethality tests indicated significant pathogenicity toward mice,affecting primarily the lungs,liver,and intestines.Antibiotic susceptibility testing demonstrated that this strain exhibited resistance to various classes of beta-lactam antibiotics,as well as quinolones and aminoglycosides.This investigation successfully isolated a multi-drug resistant enterotoxigenic Escherichia coli strain with pronounced pathogenicity from the liver of a deceased tiger;thus providing valuable scientific insights for clinical diagnosis,as well as prevention and control measures,against ETEC infections in South China tigers.
10.Clinical characteristics analysis of two Chinese siblings with Susac syndrome and literature review
Hui DONG ; Yulan LI ; Xiaoli XU ; Shulei LIU ; Shuyi LIU ; Han XIE ; Yuan WU ; Xingzhi CHANG ; Jing ZHANG ; Chen XING ; Chunying GUO ; Jun WANG ; Ye WU ; Xinhua BAO
Chinese Journal of Applied Clinical Pediatrics 2025;40(11):856-860
Objective:To investigate the clinical manifestation, therapy, and prognosis of Susac syndrome and enhance the understanding of this disease.Methods:A case summary was made.The clinical data of two siblings with Susac syndrome treated at Children′s Medical Center, Peking University First Hospital in January 2024 were summarized.Reported cases of pediatric Susac syndrome were reviewed.Results:The onset of the disease in the two siblings was at the age of 3.00 and 6.75 years, with recurrent headaches, tinnitus, hearing loss and encephalopathy symptoms.Cranial magnetic resonance imaging showed multiple cerebral microbleeding and microinfarction lesions, " snowball like" in the corpus callosum and diffuse white matter edema in the brain.Audiometry revealed sensorineural hearing loss.In one case, ophthalmic fluorescein angiography revealed ischemic changes due to branch retinal artery occlusions.No pathogenic variants were detected in gene testing.This child was diagnosed with Susac syndrome, and the symptoms were improved after treatment with Corticosteroids and Rituximab.No relapse was observed during the 9-month follow-up.A total of 20 pediatric cases of Susac syndrome were retrieved, including 18 reported previously and 2 cases from this study.There were 2 boys and 18 girls, with the age of onset ranging from 2.5 to 17.0 years.The common initial symptoms included headache (19 cases), vertigo and tinnitus or hearing loss (9 cases), and vision impairment or visual field defect (4 cases). The symptoms were improved after immunotherapy.Conclusions:With a low incidence, Susac syndrome is rare in children and difficult to diagnose.There may be a genetic predisposition in such disease.Early diagnosis and immunotherapy can low the relapse and improve the prognosis.

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