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[Current status and future perspectives of artificial intelligence in virtual simulation-based stomatological education]. [基于虚拟仿真的口腔教育中人工智能的现状及未来展望]。
Q4 Medicine Pub Date : 2025-09-09 DOI: 10.3760/cma.j.cn112144-20250609-00214
L W Chen, L Y Meng

Stomatological education is highly dependent on the development of practical skills. However, traditional teaching models present significant limitations in terms of standardization, cost-control, assessment objectivity, and operational safety. Virtual simulation technology offers a novel solution to these issues and with the integration of virtual simulation technology and artificial intelligence (AI) further advances the field toward more intelligent, personalized, and precise applications in the field. AI has demonstrated a key enabling role in various aspects, including creating high-fidelity virtual teaching content, enhancing clinical simulation realism, implementing intelligent assessment with personalized adaptive learning, and providing smart interaction and guidance. However, its practical application in virtual simulation teaching still faces multiple challenges related to resource investment, faculty training, technological iteration, system usability, and ethical-legal regulations. Looking forward, the continuous advancement of AI and its integration into multimodal teaching systems are expected to play a crucial role in building higher-fidelity immersive learning environments, achieving more intelligent personalized teaching, developing comprehensive clinical competencies, and promoting data-driven educational reform. This review aims to provide a comprehensive overview of the current application status, key enabling pathways, primary challenges, and future prospectives of AI in virtual simulation-based stomatologcial education.

口腔教育高度依赖于实践技能的发展。然而,传统的教学模式在标准化、成本控制、考核客观性、操作安全性等方面存在很大的局限性。而虚拟仿真技术为这些问题提供了一种新颖的解决方案。虚拟仿真技术与人工智能(AI)的融合正进一步推动该领域朝着更加智能化、个性化和精准化的方向发展。人工智能在创建高保真虚拟教学内容、增强临床模拟真实感、实现个性化自适应学习的智能评估、提供智能交互和指导等方面发挥了关键的使能作用。然而,其在虚拟仿真教学中的实际应用仍面临着资源投入、师资培训、技术迭代、系统可用性、伦理法律规范等多方面的挑战。展望未来,人工智能的不断发展及其与多模态教学系统的融合,有望在构建更高保真度的沉浸式学习环境、实现更智能的个性化教学、培养临床综合能力、推动数据驱动的教育改革等方面发挥关键作用。本文就人工智能在基于虚拟仿真的口腔医学教育中的应用现状、关键实现途径、主要挑战和未来展望进行了综述。
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引用次数: 0
[Advances in mechanisms of Meckel's cartilage development and degeneration]. [Meckel软骨发育和退变机制的研究进展]。
Q4 Medicine Pub Date : 2025-09-09 DOI: 10.3760/cma.j.cn112144-20250521-00188
J Y Li, Z Y Pan, J Q Liu, J W Dai

Meckel's cartilage (MC) was first delineated in 1820 by the German anatomist Johann Friedrich Meckel the Younger through his examination of human embryos. During early development, MC functions as a supportive structure for the mandible and serves as a template for the subsequent formation of the jaw bones. Ultimately, MC transforms into either skeletal tissue, ligaments, or completely resorbs, integrating with the continuously developing osseous structures. This review elucidates the influence of MC development and degeneration on mandibular morphogenesis, delineating cellular processes and key factors that govern chondrogenic fate determination. The analysis reveals how the alterations of MC affect mandibular and craniofacial development. As a transient cartilaginous structure, investigation into MC may yield valuable insights for understanding oral and craniomaxillofacial pathologies.

1820年,德国解剖学家约翰·弗里德里希·梅克尔(Johann Friedrich Meckel the Younger)通过对人类胚胎的检查,首次描绘了梅克尔软骨(MC)。在早期发育过程中,MC作为下颌骨的支撑结构,并作为随后颌骨形成的模板。最终,MC转化为骨组织、韧带或完全吸收,与不断发育的骨结构结合。本文综述了MC发育和退化对下颌形态发生的影响,描述了决定软骨形成命运的细胞过程和关键因素。分析揭示了MC的改变如何影响下颌和颅面发育。作为一种短暂的软骨结构,MC的研究可以为理解口腔和颅颌面病理提供有价值的见解。
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引用次数: 0
[Significance and clinical applications of periodontal chart: part Ⅳ of a series on basic training in periodontal diagnosis and treatment]. [牙周图表的意义和临床应用:牙周诊断和治疗基础训练系列的第四部分]。
Q4 Medicine Pub Date : 2025-09-09 DOI: 10.3760/cma.j.cn112144-20250314-00083
Y L Zhang, J S Zhong, W J Hu, Y G Xu

The periodontal chart comprehensively and objectively records the periodontal status of each tooth in the entire dentition, which is an important basis and essential for the correct diagnosis of periodontal diseases and treatment plan formulation. This article describes in detail the content and clinical significance of the periodontal chart, the key points of the implementation of the clinical completion of the periodontal chart and the step-by-step training mode. This article, as the fourth chapter in the basic skills training series for periodontal diagnosis and treatment, aims to provide guidance for the standardization of periodontal chart recording and application in the clinic and teaching, so as to promote the standardization of Chinese periodontal diagnosis and treatment and bring it on par with the international advanced level.

牙周病表全面、客观地记录了整个牙列中每颗牙齿的牙周状况,是正确诊断牙周病和制定治疗方案的重要依据和必要条件。本文详细介绍了牙周表的内容、临床意义、牙周表临床完成的实施要点及分步培训模式。本文作为牙周诊疗基本技能培训系列的第四章,旨在为牙周图表在临床和教学中的规范化记录和应用提供指导,以促进我国牙周诊疗的规范化,与国际先进水平接轨。
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引用次数: 0
[Numerical considerations for defining a rare disease in China]. [在中国定义罕见病的数值考虑]。
Q4 Medicine Pub Date : 2025-09-09 DOI: 10.3760/cma.j.cn112144-20250717-00272
S Yu, H Qiao, X Zhang

Rare diseases have become an issue of public health concern globally. In China, two rare diseases lists have been released officially in 2018 and 2023, respectively. However, due to its importance in research, clinical management , therapeutic drug development and health security, we still need a clear definition of rare diseases in China. Considering the current actual condition of our country and our population size, we would suggest a prevalence of less than 1/10 000 to define a rare disease in China.

罕见病已成为全球关注的公共卫生问题。在中国,分别于2018年和2023年正式发布了两份罕见病清单。然而,由于罕见病在研究、临床管理、治疗药物开发和健康保障方面的重要性,我们仍然需要明确罕见病在中国的定义。考虑到我国目前的实际情况和我国的人口规模,我们建议在中国定义罕见病的标准是患病率低于万分之一。
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引用次数: 0
[Periodontal health status and associated factors in community-managed patients with type 2 diabetes mellitus in Nanjing]. 南京市社区管理2型糖尿病患者牙周健康状况及相关因素分析
Q4 Medicine Pub Date : 2025-09-09 DOI: 10.3760/cma.j.cn112144-20250318-00091
H Xu, N Zhou, C C Wang, Y J Chen, Y Zhang, X Hong
<p><p><b>Objective:</b> To investigate the prevalence, severity, and influencing factors of chronic periodontitis in patients with type 2 diabetes mellitus (T2DM) in Nanjing. <b>Methods:</b> From June to August 2022, by using a multi-stage stratified cluster random sampling method, a total of 1 477 community-dwelling T2DM patients aged 35 years and older were selected and included from the National Essential Public Health Services Program for T2DM health management. Physical examinations, laboratory tests, and questionnaire surveys were conducted. Study participants were divided into chronic periodontitis group and non-chronic periodontitis group. The chronic periodontitis group was defined as having interproximal clinical attachment loss (CAL) detected at least at two non-adjacent sites, or having buccal/lingual CAL≥3 mm at least at two sites with probing depth (PD)≥3 mm, while excluding CAL caused by non-periodontal reasons. The remaining participants were classified as the non-chronic periodontitis group. In the chronic periodontitis group, patients who had PD≥6 mm at least at two sites with CAL≥5 mm were defined as severe periodontitis, with remaining cases classified as mild-to-moderate periodontitis. <b>Results:</b> The prevalence of chronic periodontitis among T2DM patients was 70.1% (962/1 373), with mild to moderate and severe periodontitis prevalence rates of 62.4% (857/1 373) and 7.6% (105/1 373), respectively. After complex weighted processing, the prevalence of chronic periodontitis in T2DM patients was 67.9%, with mild to moderate and severe periodontitis prevalence rates of 61.2% and 6.7%, respectively. Multivariate logistic regression analysis showed that after adjusting all covariates, compared with mental workers, the risk of chronic periodontitis was significantly higher in retired people (<i>OR=</i>1.78, 95<i>%CI</i>: 1.75-1.81, <i>P<</i>0.001), unemployed/others (<i>OR=</i>2.18, 95<i>%CI</i>: 2.14-2.22, <i>P<</i>0.001), and physical workers (<i>OR=</i>3.80, 95<i>%CI</i>: 3.73-3.87, <i>P<</i>0.001). In terms of blood glucose control status, compared with the group that met both control targets, the risk of chronic periodontitis was significantly higher in the group that met only one target (<i>OR=</i>1.28, 95<i>%CI</i>: 1.27-1.30, <i>P<</i>0.001) and the group that met neither target (<i>OR=</i>3.29, 95<i>%CI</i>: 3.25-3.34) (<i>P<</i>0.001). The results of ordered Logistic regression showed that after adjusting for all covariates, compared with male patients, female patients had a significantly lower risk of progression to severe periodontitis (<i>OR=</i>0.77, 95<i>%CI</i>: 0.76-0.78, <i>P<</i>0.001). In terms of the score of healthy lifestyle, compared with those with a score of 0-2, the risk of progression to severe periodontitis was significantly lower in those with a score of 3 (<i>OR=</i>0.85, 95<i>%CI</i>: 0.84-0.86, <i>P<</i>0.001) and 4 (<i>OR=</i>0.51, 95<i>%CI</i>: 0.50-0.52, <i>P<</i>0.001). In terms of blood gluco
目的:了解南京地区2型糖尿病(T2DM)患者慢性牙周炎的患病率、严重程度及影响因素。方法:采用多阶段分层整群随机抽样方法,于2022年6月至8月,从国家T2DM健康管理基本公共卫生服务项目中抽取35岁及以上社区居住T2DM患者1 477例。进行了体格检查、实验室检查和问卷调查。研究对象分为慢性牙周炎组和非慢性牙周炎组。慢性牙周炎组定义为至少在两个非相邻部位检测到近端间临床附着缺失(CAL),或至少在两个探探深度(PD)≥3mm的部位检测到颊/舌牙附着缺失≥3mm,同时排除非牙周原因引起的CAL。其余的参与者被归类为非慢性牙周炎组。在慢性牙周炎组中,PD≥6 mm且至少两个部位CAL≥5 mm的患者被定义为重度牙周炎,其余病例被归类为轻中度牙周炎。结果:T2DM患者慢性牙周炎患病率为70.1%(962/1 373),轻中度和重度牙周炎患病率分别为62.4%(857/1 373)和7.6%(105/1 373)。经复杂加权处理后,T2DM患者慢性牙周炎患病率为67.9%,其中轻中度和重度牙周炎患病率分别为61.2%和6.7%。多因素logistic回归分析显示,调整所有协变量后,与脑力劳动者相比,退休人员(OR=1.78, 95%CI: 1.75 ~ 1.81, P0.001)、失业/其他人员(OR=2.18, 95%CI: 2.14 ~ 2.22, P0.001)和体力劳动者(OR=3.80, 95%CI: 3.73 ~ 3.87, P0.001)患慢性牙周炎的风险明显更高。在血糖控制情况方面,与两项控制指标均达到组相比,仅达到一项控制指标组(OR=1.28, 95%CI: 1.27 ~ 1.30, P0.001)和两项控制指标均未达到组(OR=3.29, 95%CI: 3.25 ~ 3.34)发生慢性牙周炎的风险显著高于两项控制指标均达到组(p < 0.001)。有序Logistic回归结果显示,在调整所有协变量后,与男性患者相比,女性患者进展为严重牙周炎的风险显著降低(OR=0.77, 95%CI: 0.76-0.78, P0.001)。在健康生活方式得分方面,与0 ~ 2分的患者相比,3分组(OR= 0.85, 95%CI: 0.84 ~ 0.86, P0.001)和4分组(OR=0.51, 95%CI: 0.50 ~ 0.52, P0.001)进展为严重牙周炎的风险显著降低。在血糖控制方面,与满足两个控制目标的组相比,仅满足一个目标的组(OR=1.27, 95%CI: 1.26-1.29, P0.001)和不满足两个目标的组(OR=3.24, 95%CI: 3.21-3.28, P0.001)进展为严重牙周炎的风险显著高于满足两个控制目标组(OR=3.24, 95%CI: 3.21-3.28, P0.001)。此外,血糖控制不良与牙周炎严重程度的增加显著正相关,表明血糖控制状况较差与牙周炎严重程度恶化的风险较高(P0.001)。结论:T2DM患者的血糖控制状况与慢性牙周炎有关。
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引用次数: 0
[Single-cell sequencing reveals the temporal expression characteristics of key molecules related to tooth agenesis and dental hard tissues in mouse molars]. [单细胞测序揭示了小鼠磨牙牙齿发育和牙硬组织相关关键分子的时间表达特征]。
Q4 Medicine Pub Date : 2025-09-09 DOI: 10.3769/cma.j.cn112144-20250605-00206
W Guo, X P Wang, T Y Su, S Q Wei, X Y Pan, X H Duan

Objective: To utilize single-cell RNA sequencing (scRNA-seq) to untangle the temporal expression profiles of molecules associated with congenital tooth agenesis and dental hard tissue formation during mouse molar development, and to construct a comprehensive cell atlas spanning the entire developmental period from E13.5 to P7.5, thereby providing new insights into the molecular mechanisms underlying abnormal tooth development. Methods: scRNA-seq data of murine mandibular molar tooth germs at five developmental stages (E13.5, E14.5, E16.5, P3.5, P7.5) were obtained from the GEO database (accession: GSE189381). The Seurat pipeline was employed for quality control, data normalization, dimensionality reduction, and Harmony-based batch effect correction. Cellular subpopulations were identified through uniform manifold approximation and projection dimensionality reduction, while developmental trajectories were reconstructed using Monocle for pseudotime analysis. Results: scRNA-seq analysis profiling identified 27 distinct cellular clusters, which were annotated into twelve major cell types including epithelial cells, mesenchymal cells, and endothelial cells. Msx1 exhibited a bimodal expression pattern. Pax9 reached its peak at E14.5 and then gradually decreased. Eda had a low expression level with a diffuse distribution. In contrast, Amelx and Enam were barely expressed during the embryonic stage and were activated at P3.5. Dspp was ectopically highly expressed in epithelial cells from P3.5 to P7.5, while Dmp1 was specifically upregulated in mesenchymal cells at P7.5. Conclusions: The temporal expression patterns of key regulatory genes for tooth agenesis (Msx1, Pax9, Eda), ameloblast differentiation (Amelx, Enam), and odontoblast development (Dspp, Dmp1) during mouse molar development. These findings provide a theoretical foundation and potential therapeutic targets for deciphering the molecular mechanisms underlying tooth agenesis and other developmental dental anomalies, paving the way for targeted clinical interventions.

目的:利用单细胞rna测序(scRNA-seq)技术分析小鼠磨牙发育过程中先天性牙齿发育和牙硬组织相关分子的时间表达特征,构建从E13.5到P7.5整个发育周期的细胞图谱,为阐明牙齿发育障碍的分子机制提供新的证据。方法:从GEO数据库(accession: GSE189381)中获取5个发育阶段(E13.5、E14.5、E16.5、P3.5、P7.5)的小鼠下颌磨牙胚scRNA-seq数据。Seurat流水线用于质量控制、数据归一化、降维和基于harmony的批处理效果校正。通过UMAP降维识别细胞亚群,同时使用Monocle重建发育轨迹进行伪时间分析。结果:scRNA-seq分析图谱鉴定出27个不同的细胞簇,它们被标注为12种主要的细胞类型,包括上皮细胞、间充质细胞和内皮细胞。Msx1呈现双峰表达模式。Pax9在E14.5达到峰值,之后逐渐降低。Eda表达水平低,呈弥漫性分布。相比之下,Amelx和Enam在胚胎期几乎不表达,在P3.5时被激活。Dspp在上皮细胞P3.5 - P7.5特异高表达,而Dmp1在间充质细胞P7.5特异上调。结论:小鼠磨牙发育过程中牙齿发育关键调控基因(Msx1、Pax9、Eda)、成釉细胞分化(Amelx、Enam)和成牙细胞发育(Dspp、Dmp1)的时间表达模式。这些发现为破解牙齿发育不全和其他发育性牙齿异常的分子机制提供了理论基础和潜在的治疗靶点,为有针对性的临床干预铺平了道路。
{"title":"[Single-cell sequencing reveals the temporal expression characteristics of key molecules related to tooth agenesis and dental hard tissues in mouse molars].","authors":"W Guo, X P Wang, T Y Su, S Q Wei, X Y Pan, X H Duan","doi":"10.3769/cma.j.cn112144-20250605-00206","DOIUrl":"10.3769/cma.j.cn112144-20250605-00206","url":null,"abstract":"<p><p><b>Objective:</b> To utilize single-cell RNA sequencing (scRNA-seq) to untangle the temporal expression profiles of molecules associated with congenital tooth agenesis and dental hard tissue formation during mouse molar development, and to construct a comprehensive cell atlas spanning the entire developmental period from E13.5 to P7.5, thereby providing new insights into the molecular mechanisms underlying abnormal tooth development. <b>Methods:</b> scRNA-seq data of murine mandibular molar tooth germs at five developmental stages (E13.5, E14.5, E16.5, P3.5, P7.5) were obtained from the GEO database (accession: GSE189381). The Seurat pipeline was employed for quality control, data normalization, dimensionality reduction, and Harmony-based batch effect correction. Cellular subpopulations were identified through uniform manifold approximation and projection dimensionality reduction, while developmental trajectories were reconstructed using Monocle for pseudotime analysis. <b>Results:</b> scRNA-seq analysis profiling identified 27 distinct cellular clusters, which were annotated into twelve major cell types including epithelial cells, mesenchymal cells, and endothelial cells. Msx1 exhibited a bimodal expression pattern. Pax9 reached its peak at E14.5 and then gradually decreased. Eda had a low expression level with a diffuse distribution. In contrast, Amelx and Enam were barely expressed during the embryonic stage and were activated at P3.5. Dspp was ectopically highly expressed in epithelial cells from P3.5 to P7.5, while Dmp1 was specifically upregulated in mesenchymal cells at P7.5. <b>Conclusions:</b> The temporal expression patterns of key regulatory genes for tooth agenesis (Msx1, Pax9, Eda), ameloblast differentiation (Amelx, Enam), and odontoblast development (Dspp, Dmp1) during mouse molar development. These findings provide a theoretical foundation and potential therapeutic targets for deciphering the molecular mechanisms underlying tooth agenesis and other developmental dental anomalies, paving the way for targeted clinical interventions.</p>","PeriodicalId":23965,"journal":{"name":"中华口腔医学杂志","volume":"60 9","pages":"987-996"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Personalized milled primary denture restoration for a pediatric patient with severe congenital tooth agenesis: a case report]. [儿童重度先天性牙发育不全的个性化磨牙义齿修复一例报道]。
Q4 Medicine Pub Date : 2025-09-09 DOI: 10.3760/cma.j.cn112144-20250506-00169
C X Geng, T T Pu, M Li, H Q Ye, D Tong, D Han
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引用次数: 0
[Phenome-wide mendelian randomization identifies causal exposures for nonsyndromic cleft lip with or without cleft palate]. [全现象范围的孟德尔随机化确定非综合征性唇裂伴或不伴腭裂的因果暴露]。
Q4 Medicine Pub Date : 2025-09-09 DOI: 10.3760/cma.j.cn112144-20250430-00165
S Lou, C Y Xing, Y C Pan

Objective: To systematically investigate the causal effects of exposure factors on nonsyndromic cleft lip with or without cleft palate (NSCL/P) using a phenome-wide mendelian randomization (MR-PheWAS) framework and identify pleiotropic loci. Methods: This study integrated genome-wide association study (GWAS) data for NSCL/P, including 1 069 cases and 1 724 controls, and systematically evaluated causal associations between exposures and NSCL/P using the MR-PheWAS framework. GWAS summary data for 2 106 Asian population-exposure phenotypes were obtained from the IEU OpenGWAS database. The inverse-variance weighted (IVW) method served as the core causal inference model, supplemented by weighted median and MR-Egger regression to verify the robustness of causal associations. Additionally, multivariable MR analysis was conducted to adjust for confounding effects, alongside sensitivity tests (Cochran's Q and MR-PRESSO). Genetic correlations were analyzed using LD Score regression, and cross-phenotype pleiotropy analysis (PLACO/CPASSOC) was employed to identify shared genetic loci. Pathway enrichment and gene annotation data were integrated to explore potential biological mechanisms. Results: MR analysis identified serum calcium (OR=0.12, P=0.019), high-density lipoprotein (HDL, OR=0.61, P=0.039), and mean corpuscular hemoglobin concentration (MCHC, OR=0.39, P=0.032) as protective factors, whereas serum sodium (OR=21.41, P=0.013) was a risk factor. Furthermore, in subsequent analyses of genetic correlation and genetic overlap, a strong association was observed between serum calcium and NSCL/P. Cross-trait analysis localized pleiotropic loci to 16q24.2 and 3q21.1, involving CASR and CSTA, with significant enrichment in vitamin D response pathways. Conclusions: Numerous environmental exposure factors may have a causal impact on the outcomes of NSCL/P, and metabolic homeostasis (especially calcium signaling) plays a significant role in the pathogenesis of NSCL/P. Further genetic analyses identified potential pleiotropic loci primarily located at 16q24.2 and 3q21.1, involving key genes such as CASR and CSTA, and enriched in vitamin D response pathways. This study highlights the crucial position of genetic-environmental factors in the development of cleft lip and palate.

目的:采用全现象孟德尔随机化(MR-PheWAS)框架,系统探讨暴露因素对伴或不伴腭裂的非综合征型唇裂(NSCL/P)的因果影响,并确定多效位点。方法:本研究整合NSCL/P全基因组关联研究(GWAS)数据,包括1069例病例和1 724例对照,采用MR-PheWAS框架系统评估暴露与NSCL/P之间的因果关系。2 106个亚洲人群暴露表型的GWAS汇总数据来自IEU OpenGWAS数据库。以逆方差加权(IVW)方法作为核心因果推理模型,并辅以加权中位数和MR-Egger回归验证因果关联的稳健性。此外,进行多变量磁共振分析以调整混杂效应,同时进行敏感性测试(科克伦Q和MR- presso)。采用LD评分回归分析遗传相关性,并采用交叉表型多效分析(PLACO/CPASSOC)鉴定共享遗传位点。整合通路富集和基因注释数据来探索潜在的生物学机制。结果:MR分析发现血清钙(OR=0.12, P=0.019)、高密度脂蛋白(OR= 0.61, P=0.039)、平均红细胞血红蛋白浓度(MCHC, OR=0.39, P=0.032)为保护因素,血清钠(OR=21.41, P=0.013)为危险因素。此外,在随后的遗传相关性和遗传重叠分析中,观察到血清钙与NSCL/P之间存在很强的相关性。交叉性状分析将多效位点定位于16q24.2和3q21.1,涉及CASR和CSTA,在维生素D反应途径中显著富集。结论:多种环境暴露因素可能对NSCL/P的预后有因果影响,代谢稳态(尤其是钙信号)在NSCL/P的发病机制中起重要作用。进一步的遗传分析发现了潜在的多效位点,主要位于16q24.2和3q21.1,涉及CASR和CSTA等关键基因,富含维生素D反应途径。本研究强调了遗传环境因素在唇腭裂发育中的重要地位。
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引用次数: 0
[Investigation of the role and mechanism of Porphyromonas gingivalis in inducing ferroptosis in vascular endothelial cells]. [牙龈卟啉单胞菌诱导血管内皮细胞铁下垂的作用及机制研究]。
Q4 Medicine Pub Date : 2025-09-09 DOI: 10.3760/cma.j.cn112144-20250420-00145
Q Li, C Lu, J Lin
<p><p><b>Objective:</b> To investigate whether <i>Porphyromonas gingivalis</i> (Pg) induces ferroptosis in vascular endothelial cells and predict the Hub genes. <b>Methods:</b> Firstly, human umbilical vein endothelial cells (HUVEC) were stimulated with Pg (W83) for 4 h, and transmission electron microscopy was used to observe ferroptosis-related morphological characteristics. Subsequently, RNA was extracted from HUVEC before and after Pg stimulation for transcriptome sequencing (RNA-seq). Enrichment analysis was performed to determine if differentially expressed genes (DEG) associated with ferroptosis. Ferroptosis-related DEG (Fer-DEG) were identified and then underwent gene ontology (GO) functional annotation, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis, protein-protein interaction (PPI) network construction, and Hub gene prediction. Next, based on RNA-seq results, HUVEC were stimulated with lipopolysaccharide (LPS) for 24 h. Established ferroptosis markers were detected. The indices and detection methods were as follows: cell viability via cell counting kit-8; reactive oxygen species (ROS) by the DCFH-DA probe; Fe²⁺, lipid peroxides (LPO), malondialdehyde (MDA), and reduced/oxidized glutathione ratio (GSH/GSSG) with commercial kits; mitochondrial membrane potential (MMP) using the JC-1 probe; solute carrier family 7 member 11 (SLC7A11), solute carrier family 3 member 2 (SLC3A2), and glutathione peroxidase 4 (GPX4) expressions by Western blotting (WB) and real-time fluorescence quantitative PCR (RT-qPCR). Finally, RT-qPCR was used to validate the expression of predicted Hub genes in HUVEC after 24 h LPS stimulation, including tumor necrosis factor (TNF) or TNF-α, interleukin (IL)-6, and prostaglandin-endoperoxide synthase 2 (PTGS2). <b>Results:</b> The mitochondria exhibited size reduction and cristae loss in Pg-stimulated HUVEC. DEG of HUVEC between the Pg-infected and control groups were enriched in the pathway of ferroptosis, and from which 56 Fer-DEG were identified. GO analysis showed enrichment in in responses to TNF, LPS, biotic stimulus, etc. and KEGG analysis revealed enrichment in TNF, C-type lectin receptor, and IL-17 signaling pathways, etc. In the 56-gene PPI network, TNF, IL-6, and PTGS2 were predicted as Hub genes, which were significantly associated with ferroptosis-related pathways, including unsaturated fatty acid biosynthesis and ROS metabolic process regulation. Compared to the control group [(100.00±1.44)%], LPS significantly reduced HUVEC viability [(66.77±1.80)%], which could be ameliorated by Fer-1 [(84.50±1.47)%] (<i>P<</i>0.05). The ROS fluorescence intensity in the LPS group (1 523.00±250.70) was significantly higher than in the control (328.20±38.68) or LPS+Fer-1 (753.30±67.11) group (all <i>P<</i>0.05). The Fe²⁺, LPO, and MDA levels in the LPS group [(29.83±4.25) μmol/10<sup>6</sup> cells, (3.58±0.24) μmol/gprot, (5.54±0.33) μmol/gprot, respectively] were significantly higher than both
目的:探讨牙龈卟啉单胞菌(Porphyromonas gingivalis, Pg)是否会诱导血管内皮细胞铁下垂并预测Hub基因的表达。方法:首先用Pg (W83)刺激人脐静脉内皮细胞(HUVEC) 4 h,透射电镜观察其凋亡相关形态学特征。随后,从Pg刺激前后的HUVEC中提取RNA进行转录组测序(RNA-seq)。进行富集分析以确定差异表达基因(DEG)是否与铁下垂有关。鉴定出与凋亡相关的DEG (fe -DEG),然后进行基因本体(GO)功能注释、京都基因与基因组百科全书(KEGG)途径富集分析、蛋白-蛋白相互作用(PPI)网络构建和Hub基因预测。接下来,根据RNA-seq结果,用脂多糖(LPS)刺激HUVEC 24小时。检测已建立的铁下垂标志物。检测指标及方法:细胞计数试剂盒-8测定细胞存活率;DCFH-DA探针检测活性氧(ROS);Fe 2 +、脂质过氧化物(LPO)、丙二醛(MDA)、还原性/氧化性谷胱甘肽比值(GSH/GSSG)(商用试剂盒);JC-1探针检测线粒体膜电位(MMP);Western blotting (WB)和实时荧光定量PCR (RT-qPCR)检测溶质载体家族7成员11 (SLC7A11)、溶质载体家族3成员2 (SLC3A2)和谷胱甘肽过氧化物酶4 (GPX4)的表达。最后,采用RT-qPCR验证LPS刺激24 h后HUVEC中预测的Hub基因的表达,包括肿瘤坏死因子(TNF)或TNF-α、白细胞介素(IL)-6和前列腺素内过氧化物合成酶2 (PTGS2)。结果:pg刺激的HUVEC细胞线粒体大小减小,嵴丢失。pg感染组与对照组之间HUVEC的DEG在铁下垂途径中富集,从中鉴定出56个fe -DEG。GO分析显示在TNF、LPS、生物刺激等响应中富集,KEGG分析显示在TNF、c型凝集素受体、IL-17信号通路等中富集。在56个基因的PPI网络中,TNF、IL-6和PTGS2被预测为Hub基因,这些基因与凋亡相关的途径,包括不饱和脂肪酸生物合成和ROS代谢过程调控显著相关。与对照组[(100.00±1.44)%]相比,LPS显著降低HUVEC活力[(66.77±1.80)%],而fe -1可改善HUVEC活力[(84.50±1.47)%](P0.05)。LPS组ROS荧光强度(1 523.00±250.70)显著高于对照组(328.20±38.68)或LPS+Fer-1组(753.30±67.11)(均P0.05)。LPS组Fe +、LPO和MDA水平[分别为(29.83±4.25)μmol/106、(3.58±0.24)μmol/gprot、(5.54±0.33)μmol/gprot]显著高于对照组[(7.29±0.79)μmol/gprot、(1.08±0.05)μmol/gprot、(2.06±0.17)μmol/gprot]和LPS+Fer-1组[(16.33±1.63)μmol/106、(2.01±0.09)μmol/gprot、(3.24±0.26)μmol/gprot]。LPS组GSH/GSSG比值(2.17±0.08)显著低于对照组(6.96±0.20)和LPS+ fe -1组(4.31±0.81)(均p < 0.05)。LPS组JC-1聚集体/单体荧光强度比(0.46±0.07)明显低于对照组(285.60±160.40),而fe -1预处理(1.53±0.17)明显减轻了这种下降(均P0.05)。LPS组SLC7A11、SLC3A2、GPX4蛋白和mRNA表达量均显著低于对照组和fer1 +LPS组(P0.05)。LPS组TNF、IL-6、PTGS2 mRNA表达量较对照组显著上调,且LPS+Fer-1组这3个因子的表达量显著低于LPS组(均P0.05)。结论:Pg驱动血管内皮细胞铁下垂,TNF、IL-6和PTGS2被认为是这一过程中潜在的新型枢纽基因。
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引用次数: 0
[Review of oral genetic diseases in China]. [中国口腔遗传疾病综述]。
Q4 Medicine Pub Date : 2025-09-09 DOI: 10.3760/cma.j.cn112144-20250701-00240
J Liang, Z Bian

This study provides a comprehensive review of the development and achievements in the field of oral genetic disorders research in China. Since the 1950s, Chinese scholars have progressed from epidemiological surveys to the elucidation of molecular mechanisms and functional genomics, marking a transition from macro-level observations to micro-level analyses. The research focuses on three major categories: cleft lip and palate, dental developmental anomalies, and rare hereditary oral diseases. Several critical pathogenic genes have been identified, and their molecular mechanisms and phenotypic characteristics elucidated. This paper summarizes representative findings, analyzes current challenges, and outlines future research directions, aiming to provide theoretical support for advancing both basic research and clinical translation in the field of oral genetics in China.

本文对国内口腔遗传疾病的研究进展和取得的成果进行了综述。自20世纪50年代以来,中国学者从流行病学调查发展到阐明分子机制和功能基因组学,标志着从宏观观察到微观分析的转变。研究主要集中在三大类:唇腭裂、牙齿发育异常和罕见的遗传性口腔疾病。几个关键的致病基因已被确定,并阐明了它们的分子机制和表型特征。本文总结了代表性研究成果,分析了当前面临的挑战,并提出了未来的研究方向,旨在为推进中国口腔遗传学领域的基础研究和临床转化提供理论支持。
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引用次数: 0
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中华口腔医学杂志
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