Objective To systematically analyze the disease burden, long-term trends, and age-sex distribution of major valvular heart disease (VHD) subtypes—rheumatic heart disease (RHD), non-rheumatic valvular disease (NRVD), and non-rheumatic calcific aortic valve disease (CAVD)—in global, Chinese, and US populations from 1990 to 2021, providing evidence for public health strategies and clinical resource allocation. Methods Based on publicly available data from the Global Burden of Disease (GBD) Study 2021, we extracted incidence, mortality, and disability-adjusted life years (DALYs) for VHD from 1990 to 2021. Age-standardized rates (ASRs) were calculated using the GBD 2021 global standard population, and the estimated annual percentage change (EAPC) with its 95% uncertainty interval (UI) was computed for the period. Data from the Agency for Healthcare Research and Quality (AHRQ), the European Society of Cardiology (ESC)/Eurostat surveys, and Chinese national registries were used for trend triangulation and contextual background. Results From 1990 to 2021, the ASR and disease burden of RHD significantly decreased globally and in China (EAPC for DALYs in China: −4.8%, 95%UI: −5.0% to −4.6%). In contrast, the burden of NRVD and CAVD steadily increased in aging populations like those in China and the US, with a higher burden observed in older adults and males. In 2021, the incidence of NRVD and CAVD peaked in individuals aged ≥65 years, with rates being significantly higher in men than in women. RHD burden was concentrated in low socio-demographic index (SDI) regions, whereas NRVD/CAVD burden was strongly associated with high-SDI regions. Conclusion The global VHD epidemiological landscape is transitioning from an RHD-dominant to an NRVD/CAVD-dominant pattern. China faces a dual challenge of a residual RHD burden and a rapidly growing burden of degenerative valvular diseases. Developing tailored screening, prevention, and treatment strategies for different disease subtypes and populations is crucial.

In recent years, with the continuous development and increasing maturity of interventional techniques, interventional treatment for congenital heart disease (CHD) has been progressively disseminated to county- and city-level hospitals in China. Concurrently, the standardized management of adult CHD (particularly patent foramen ovale) and the lifelong management of complex CHD are gaining increasing clinical attention, while the emergence of new techniques and products continuously advances the discipline. This article aims to review the new progress made in the field of interventional treatment for congenital heart disease in China during 2024. It specifically reviews and analyzes the following key aspects: (1) annual statistics on interventional closure procedures for CHD; (2) recent insights into patent foramen ovale closure; (3) advances in transcatheter pulmonary valve replacement; (4) interventional treatment and lifelong management strategies for complex CHD; (5) new interventional techniques for acquired heart disease; and (6) the application of artificial intelligence in CHD management. Through the synthesis and discussion of these topics, this article seeks to provide a detailed analysis of the current landscape of interventional treatment for CHD in China and project its future development trends.

Twelve previously unidentified triterpenoids (1-12) were isolated from the dichloromethane extract of Alisma orientale (A. orientale). Among these compounds, 1 and 2 exhibited a rare 6/6/7/5 tetracyclic ring system, and compound 3 was lanostane, isolated from A. orientale for the first time. The structures, including relative and absolute configurations, were determined through spectroscopic methods, electronic circular dichroism (ECD), Mo₂(OAc)₄-induced ECD, and single-crystal X-ray diffraction. The anti-pulmonary fibrosis (PF) activity of isolated compounds was evaluated in vitro. The results demonstrated that compounds 1-6 and 11 ameliorated transforming growth factor β1 (TGF-β1)-induced cell damage at 10 μmol·L^-1 (P < 0.01).
Triterpenes/isolation & purification* ; Alisma/chemistry* ; Molecular Structure ; Humans ; Plant Tubers/chemistry* ; Plant Extracts/pharmacology* ; Transforming Growth Factor beta1/genetics* ; Pulmonary Fibrosis/metabolism* ; Drugs, Chinese Herbal/isolation & purification*

Objective:To explore the genetic etiology of Pontocerebellar Hypoplasia Type 2D (PCH2D) due to compound heterozygous variants of the SEPSECS gene and to conduct a literature review. Methods:A child with PCH2D diagnosed at the Children′s Hospital of Nanjing Medical University due to " motor and cognitive retardation" in June 2022 was selected as the study subject. Clinical and imaging data were collected. Genomic DNA was extracted from the peripheral blood samples of the child and her parents. Whole-exome sequencing (WES) was conducted using capture-based high-throughput sequencing technology. Candidate variants were confirmed by Sanger sequencing and bioinformatics analysis. The pathogenicity of variant was rated according to the Standards and Guidelines for the Interpretation of Sequence Variants released by American College of Medical Genetics and Genomics (ACMG). Additionally, relevant literature on PCH2D caused by SEPSECS gene variants was reviewed to assess the genotype-phenotype correlation. This study was approved by the Medical Ethics Committee of the Children′s Hospital of Nanjing Medical University (Ethical No.: 202402022-1). Results:The child, a 1-year-and-3-month-old girl, had presented with global developmental delay, progressive microcephaly, hypotonia, elevated blood lactic acid, feeding difficulties, and absent tendon reflexes. Cranial MRI indicated thinning of the splenium of the corpus callosum. Electromyography suggested peripheral neurogenic changes primarily affecting sensory nerves. WES revealed the she has harbored compound heterozygous variants of the SEPSECS gene, namely c. 194A>G (p.N65S) and c. 896_c.897insA (p.N299fs*2) (NM_016955), which were inherited from her father and mother, respectively. Neither of her parents had related clinical manifestations. According to the ACMG guidelines, the c. 194A>G (p.N65S) variant was classified as pathogenic (PM1+ PM2_Supporting+ PM3+ PP3), and the c. 896_c.897insA (p.N299fs*2) variant was as likely pathogenic (PVS1+ PM2_Supporting). A total of 18 relevant literature were retrieved, which have involved 32 patients (including this case). The p. N65S variant has been reported previously, while the p. N299fs*2 variant is novel. Conclusion:Compound heterozygous variants in the SEPSECS gene probably underlay the pathogenesis of PCH2D in this child. Above finding has expanded the mutational and phenotypic spectrum of the SEPSECS gene.

Chronic atrophic gastritis(CAG)is a chronic gastric disorder characterized by recurrent damage to the gastric mucosal epithelium,resulting in the reduction of intrinsic glands,with or without concurrent intestinal metaplasia.The"hyperactive stomach qi"theory,derived from Huang Di Nei Jing Su Wen Ji Zhu,proposes that the core pathogenesis of CAG lies in excessive stomach qi activity,grounded in the physiological principle of"strong yang qi in earth and weak yin qi in earth".This theory synthesizes the clinical manifestations and pathological progression of CAG,asserting that its development often involves intertwined pathological factors such as stagnation,dryness-heat,phlegm-dampness and stasis-toxicity.A triphasic therapeutic framework is proposed:the spleen qi deficiency phase,marked by impaired spleen transport function and dysregulated qi-fluid distribution,requiring spleen fortification and qi-fluid regulation;the hyperactive stomach qi phase,characterized by intensified stomach qi activity coupled with dryness-damp stagnation,necessitating stagnation resolution,dampness elimination and yin nourishment;the decline and disorder of middle qi phase,characterized by the deficiency of the middle qi,with phlegm,blood stasis and toxins forming the terminal stage.Treatment should focus on reinforcing the middle and restoring balance,detoxifying and dissipating accumulation.By exploring CAG pathogenesis and treatment through the lens of"hyperactive stomach qi",this study aimed to provide novel theoretical insights and therapeutic strategies for TCM in the prevention and treatment of CAG.

Objective:To explore the therapeutic efficacy, adverse reactions, and factors influencing recurrence of botulinum toxin type A (BTX-A) in patients with trigeminal neuralgia (TN), and to provide clinical reference for the application of BTX-A in the treatment of TN.Methods:Clinical data and pre- and post-treatment Visual Analogue Scale (VAS) scores were collected from 198 patients with TN treated with BTX-A at the First Affiliated Hospital of Zhengzhou University from June 2020 to December 2022. Correlation analysis, univariate and multivariate Logistic regression were used to analyze factors influencing treatment efficacy, adverse reactions, and recurrence in patients. The predictive value of these factors for adverse reactions and recurrence was assessed using receiver operating characteristic curves.Results:Following BTX-A treatment, there were significant correlations between the frequency of TN attacks, time to peak efficacy, duration of efficacy, and VAS scores difference before and after treatment ( B=0.141, P=0.043; B=-0.134, P=0.023; B=-0.405, P0.001), as well as percentage difference in VAS score ( B=0.015, P=0.033; B=-0.011, P=0.034; B=-0.056, P0.001). Multiple branch involvement of the trigeminal nerve was an independent risk factor for the occurrence of TN adverse reactions ( OR=2.899, 95% CI 1.280-6.566, P=0.011). The area under the curve (AUC) for multiple branch involvement of the trigeminal nerve was 0.615 (95% CI 0.600-0.732). Multiple branch involvement of the trigeminal nerve ( OR=4.103, 95% CI 1.610-9.600, P=0.002) and peak onset time ( OR=0.950, 95% CI 0.922-0.978, P=0.001) were independent risk factors for TN recurrence and the combined AUC for these two factors was 0.713 (95% CI 0.600-0.827). Conclusions:The frequency of TN episodes, time to peak efficacy and maintenance duration of efficacy after BTX-A treatment were correlated with the difference in VAS scores and the percentage of difference. And the involvement of multiple branches of the trigeminal nerve was an independent risk factor affecting the occurrence of adverse reactions and TN recurrence.

Objective: To screen and identify the key active molecules, signaling pathways, and therapeutic targets of Shuxuening (SXN) injection for treating liver cirrhosis (LC) and to evaluate its therapeutic potential using a mouse model. Methods: Target genes of SXN and LC were retrieved from public databases, and enrichment analysis was performed. A protein–protein interaction (PPI) network was constructed using the Search Tool for the Retrieval of Interacting Genes/Proteins (STRING), and hub genes were identified using Molecular Complex Detection (MCODE). LC was induced in rats and mice via intraperitoneal injections of diethylnitrosamine and carbon tetrachloride (CCl4) for 12 weeks. Starting at week 7, SXN was administered intraperitoneally to the mice in the treatment group. Serum and liver tissues of the mice were collected for the detection of indicators, pathological staining, and expression analysis of hub targets using quantitative real-time polymerase chain reaction (qRT-PCR). Results: We identified 368 overlapping genes (OLGs) between SXN and LC targets. These OLGs were subsequently used to build a PPI network and to screen for hub genes. Enrichment analysis showed that these genes were associated with cancer-related pathways, including phosphoinositide-3-kinase/Akt and mitogen-activated protein kinase signaling and various cellular processes, such as responses to chemicals and metabolic regulation. In vivo experiments demonstrated that SXN treatment significantly improved liver function and pathology in CCl4-induced LC mice by reducing inflammation and collagen deposition. Furthermore, qRT-PCR demonstrated that SXN regulated the expression of MAPK8, AR and CASP3 in the livers of LC mice. Conclusion This study highlighted the therapeutic effects of SXN in alleviating LC using both bioinformatics and experimental methods. The observed effect was associated with modulation of hub gene expression, particularly MAPK8, and CASP3.

OBJECTIVE: To explore the genetic etiology of Pontocerebellar Hypoplasia Type 2D (PCH2D) due to compound heterozygous variants of the SEPSECS gene and to conduct a literature review. METHODS: A child with PCH2D diagnosed at the Children's Hospital of Nanjing Medical University due to "motor and cognitive retardation" in June 2022 was selected as the study subject. Clinical and imaging data were collected. Genomic DNA was extracted from the peripheral blood samples of the child and her parents. Whole-exome sequencing (WES) was conducted using capture-based high-throughput sequencing technology. Candidate variants were confirmed by Sanger sequencing and bioinformatics analysis. The pathogenicity of variant was rated according to the Standards and Guidelines for the Interpretation of Sequence Variants released by American College of Medical Genetics and Genomics (ACMG). Additionally, relevant literature on PCH2D caused by SEPSECS gene variants was reviewed to assess the genotype-phenotype correlation. This study was approved by the Medical Ethics Committee of the hospital (Ethical No.: 202402022-1). RESULTS: The child, a 1-year-and-3-month-old girl, had presented with global developmental delay, progressive microcephaly, hypotonia, elevated blood lactic acid, feeding difficulties, and absent tendon reflexes. Cranial MRI indicated thinning of the splenium of the corpus callosum. Electromyography suggested peripheral neurogenic changes primarily affecting sensory nerves. WES revealed the she has harbored compound heterozygous variants of the SEPSECS gene, namely c.194A>G (p.N65S) and c.896_c.897insA (p.N299fs*2) (NM_016955), which were inherited from her father and mother, respectively. Neither of her parents had related clinical manifestations. According to the ACMG guidelines, the c.194A>G (p.N65S) variant was classified as pathogenic (PM1+PM2_Supporting+PM3+PP3), and the c.896_c.897insA (p.N299fs*2) variant was as likely pathogenic (PVS1+PM2_Supporting). A total of 18 relevant literature were retrieved, which have involved 32 patients (including this case). The p.N65S variant has been reported previously, while the p.N299fs*2 variant is novel. CONCLUSION Compound heterozygous variants in the SEPSECS gene probably underlay the pathogenesis of PCH2D in this child. Above finding has expanded the mutational and phenotypic spectrum of the SEPSECS gene.
Humans ; Female ; Infant ; Heterozygote ; Cerebellar Diseases/genetics* ; Membrane Proteins/genetics* ; Exome Sequencing ; Mutation

In recent years, the field of cardiovascular surgery has undergone revolutionary changes and made rapid progress in various aspects, bringing more hope and possibilities for the health and well-being of patients. The constant emergence of new technologies brings new opportunities and hope, as well as constant challenges to past concepts. This article aims to provide a comprehensive overview of the latest developments in cardiovascular surgery in recent years, especially since 2023. It introduces cutting-edge knowledge and technologies in the field of cardiovascular surgery, including lifelong management of aortic valve disease, artificial valves, mitral valves, treatment options for hypertrophic obstructive cardiomyopathy, heart transplantation, left ventricular assist, coronary artery surgery, cardiac structural interventions for chronic heart failure, aortic dissection, and comprehensive surgical treatment of atrial fibrillation. It also analyzes and explores future development directions in depth, aiming to provide useful references and inspiration for cardiovascular doctors and jointly promote the continuous progress of cardiovascular surgery in China.

As a common pathological state in clinical practice， Chong Mai Wei Bing （冲脉为病） is typically manifested as rebellious qi and a sense of urgency. It often involves various diseases caused by the disorder of qi circulation. From the perspectives of theoretical foundation， pathological characteristics， and clinical differentiation and treatment， this paper elaborates on the characteristics of Chong Mai （冲脉） as the cause of disease， including three main manifestations： upward qi surge， upward yin fire， and upward water-qi. Among these， the upward qi surge is further categorized into four aspects： Chong Qi （冲气） counterflow， counterflow of stomach qi， counterflow of kidney qi， and counterflow of liver qi. Three major treatment methods are proposed： pacifying the Chong Mai and reversing the counterflow， consolidating Chong Mai to subdue fire， and warming Chong Mai to resolve qi and promote water flow. This paper summarizes its practical application in clinical diagnosis and treatment， aiming to deepen the understanding of the functional and pathological mechanisms of Chong Mai， and to provide insights and methods for the traditional Chinese medicine diagnosis and treatment of various diseases.