目的:应用生物信息学方法分析视网膜母细胞瘤(retinoblastoma,RB)基因表达谱芯片,从转录水平探讨RB与正常视网膜组织的差异表达基因(differentially expressed genes,DEGs)的功能及相互作用。方法:通过公共基因表达数据库(gene expression omnibus,GEO)数据库中选取GSE97508和GSE110811两个芯片数据,共有34个RB组织和6个正常视网膜组织。利用GEO2R工具对和Draw Venn Diagrams软件,筛选出正常视网膜组织与RB组织间的DEGs。通过在线STRING检索工具(search tool for the retrieval of interacting genes,STRING),对DEGs进行基因本体注释(gene ontology,GO)、KEGG富集通路分析、蛋白互作(protein-protein interaction,PPI)K分析。结果:在2个芯片中发现视网膜母细胞瘤共有20个DEGs,包括3个上调DEGs和17个下调DEGs,GO本体注释结果显示表达上调DEGs所富集的功能主要在细胞分裂、染色体浓缩、核分裂和DNA构象改变。下调DEGs主要富集在光传导、视觉感知、光感受器细胞修复、感光细胞内外节和调节视紫红质介导的信号通路等。KEGG通路显示上调DEGs没有显著的信号通路,下调DEGs参与光传导信号通路,其中包括CNGA1,CNGB1,RHO,SAG四个基因,通过PPI网络提示这4个基因相互联系,并发现与其他节点连接最紧密核心基因RHO。结论:利用生物信息学方法能有效对RB基因芯片数据进行挖掘,为进一步研究RB发生发展机制及寻找潜在的药物治疗靶点提供参考。
Objective: To find differentially expressed genes between retinoblastoma and normal retinal tissues by bioinformatics analysis, and to investigate their molecular function and interactions in the transcriptional level.Methods: The gene expression profile datasets GSE97508 and GSE110811, including 34 retinoblastoma (RB) tissues and 6 normal retinal tissues, were downloaded from gene expression omnibus (GEO). Differentially expressed genes (DEGs) between normal retinal tissues and RB tissues were identified by GEO2R tool and the Draw Venn Diagrams software. The gene ontology (GO) analysis, KEGG pathway and protein-protein interaction (PPI) were analyzed by STRING. Results: In two microarrays of retinoblastoma we found total 20 DEGs were identified, including 3 up-regulated and 17 down-regulated genes. The GO ontology annotation results showed that the enrichment functions of up-regulated genes were mainly in cell division, chromosome enrichment, nuclear division, and DNA conformation change. Down-regulated genes were mainly concentrated in light conduction,visual perception, photoreceptor cell repair, photoreceptor cell inner and outer segment, and regulation of rhodopsin mediated signaling pathway. The KEGG pathway showed that there was no significant signal pathway in which up-regulated genes up-regulated DEGs, and down-regulated genes were involved in the phototransduction signaling pathway, including four genes of CNGA1, CNGB1, RHO and SAG. PPI network suggested that these four genes were interlinked, and RHO was found to be the most closely connected core gene with other nodes.Conclusion: Bioinformatics can be used effectively to analyze RB microarray data to provide theoretical reference for further exploration of tumorigenesis mechanism and help search for potential drug therapeutic targets.
目的:分析不同程度2型糖尿病视网膜病变的血清生化全套指标,探讨各生化指标与糖尿病性视网膜病变(diabetic retinopathy,DR)程度的相关性。方法:回顾性收集2018年5月至2020年10月在福建医科大学附属第二医院就诊的2型糖尿病患者。根据眼底情况分为3组:糖尿病不伴视网膜病变(non-diabetic retinopathy,NDR)组(17例)、糖尿病伴非增殖性视网膜病变(non-proliferative diabetic retinopathy,NPDR)组(29例)、糖尿病伴增殖期视网膜病变(proliferative diabetic retinopathy,PDR)组(34例)。采用SPSS 24.0分析比较3组血清生化全套各指标水平,对差异指标与DR相关性采用Pearson相关分析与多重线性回归分析。结果:3组年龄差异无统计学意义(P>0.05);3组的总蛋白、白蛋白、白球比、钙浓度差异均有统计学意义(均P<0.05)。组间比较发现NPDR和PDR组总蛋白、白蛋白、白球比、钙浓度低于NDR组,差异有统计学意义(P<0.05)。Pearson相关分析显示总蛋白(r=?0.290)、白蛋白(r=?0.304),钙浓度(r=?0.252)与DR呈负相关(均P<0.05),多重线性回归提示总蛋白、白蛋白及血钙浓度是DR保护因素(P<0.05)。结论:血清指标总蛋白、白蛋白及血钙浓度与DR成负相关,在生理范围内将这些指标维持相对较高的水平,或许可以为糖尿病视网膜病变的防治提供新思路。
Objective: To analyze the serum biochemical indexes of different degrees of type 2 diabetic retinopathy, and the correlation between biochemical indexes and the degree of diabetic retinopathy (DR). Methods: Patients with type 2 diabetes admitted to the Fujian Medical University 2nd Affiliate Hospital from May 2018 to October 2020 were retrospectively collected. The patients were divided into 3 groups according to fundus conditions: non-diabetic retinopathy (NDR) group (n=17), diabetes with non-proliferative diabetic retinopathy (NPDR) group (n=29),diabetes with proliferative diabetic retinopathy (PDR) group (n=34). SPSS 24.0 was used to compare the levels of a complete set of serum biochemical indexes in the three groups. Pearson correlation analysis and multiple linear regression analysis were used for the correlation between the different indexes and DR. Results: There was no statistically significant difference in age between the three groups. The differences in total protein, albumin, white sphere ratio, and calcium concentration of the three groups were statistically significant (P<0.05). The comparison between the groups showed that the total protein, albumin, white sphere ratio, and calcium concentration in the NPDR and PDR groups were lower than those in the NDR group. The difference was statistically significant (P<0.05). Pearson correlation analysis showed that total protein (r=?0.290), albumin (r=?0.304), andcalcium concentration (r=?0.252) were negatively correlated with DR (all P<0.05). Multiple linear regression indicated total protein, albumin and blood calcium concentration were the protective factors of DR (P<0.05).Conclusion: This study found that serum levels of total protein, albumin, and blood calcium levels are negatively correlated with DR. Maintaining a relatively high level of these indexes within the physiological range may provide new ideas for the prevention and treatment of diabetic retinopathy.
脉络膜破裂大部分是由撞击引起的对冲伤,冲击力通过玻璃体传导眼底引起,因此一般脉络膜破裂会有比较明确的外伤或者钝挫伤病史。本文将报告1例16岁体校男生在无明显外伤史出现多发性脉络膜破裂伤,通过查阅文献发现有文献报道在隐匿性假性黄色瘤(pseudoxanthoma elasticum,PXE)疾病中可在无明显外伤或轻微外伤出现脉络膜破裂,并根据文献复习考虑本病例为隐匿性PXE可能。
Most of the choroidal rupture is mostly caused by impact injury, and the impact force is caused by the vitreous conduction through the fundus. Therefore, the choroidal rupture generally has a clear history of trauma or blunt trauma. This article will report a case of a 16-year-old boy in a sports school who developed multiple choroidal ruptures without obvious trauma history. Through literature review, it was found that choroidal rupture can occur without obvious or minor trauma in subtle pseudoxanthoma elasticum (PXE) disease, and based on literature review, this case was considered as a possibility of subtle PXE.
目的:分析不同程度2型糖尿病视网膜病变的血清生化全套指标,探讨各生化指标与糖尿病性视网膜病变(diabetic retinopathy,DR)程度的相关性。方法:回顾性收集2018年5月至2020年10月在福建医科大学附属第二医院就诊的2型糖尿病患者。根据眼底情况分为3组:糖尿病不伴视网膜病变(non-diabetic retinopathy,NDR)组(17例)、糖尿病伴非增殖性视网膜病变(non-proliferative diabetic retinopathy,NPDR)组(29例)、糖尿病伴增殖期视网膜病变(proliferative diabetic retinopathy,PDR)组(34例)。采用SPSS 24.0分析比较3组血清生化全套各指标水平,对差异指标与DR相关性采用Pearson相关分析与多重线性回归分析。结果:3组年龄差异无统计学意义(P>0.05);3组的总蛋白、白蛋白、白球比、钙浓度差异均有统计学意义(均P<0.05)。组间比较发现NPDR和PDR组总蛋白、白蛋白、白球比、钙浓度低于NDR组,差异有统计学意义(P<0.05)。Pearson相关分析显示总蛋白(r=?0.290)、白蛋白(r=?0.304),钙浓度(r=?0.252)与DR呈负相关(均P<0.05),多重线性回归提示总蛋白、白蛋白及血钙浓度是DR保护因素(P<0.05)。结论:血清指标总蛋白、白蛋白及血钙浓度与DR成负相关,在生理范围内将这些指标维持相对较高的水平,或许可以为糖尿病视网膜病变的防治提供新思路。
Objective: To analyze the serum biochemical indexes of different degrees of type 2 diabetic retinopathy, and the correlation between biochemical indexes and the degree of diabetic retinopathy (DR). Methods: Patients with type 2 diabetes admitted to the Fujian Medical University 2nd Affiliate Hospital from May 2018 to October 2020 were retrospectively collected. The patients were divided into 3 groups according to fundus conditions: non-diabetic retinopathy (NDR) group (n=17), diabetes with non-proliferative diabetic retinopathy (NPDR) group (n=29), diabetes with proliferative diabetic retinopathy (PDR) group (n=34). SPSS 24.0 was used to compare the levels of a complete set of serum biochemical indexes in the three groups. Pearson correlation analysis and multiple linear regression analysis were used for the correlation between the different indexes and DR. Results: There was no statistically significant difference in age between the three groups. The differences in total protein, albumin, white sphere ratio, and calcium concentration of the three groups were statistically significant (P<0.05). The comparison between the groups showed that the total protein, albumin, white sphere ratio, and calcium concentration in the NPDR and PDR groups were lower than those in the NDR group. The difference was statistically significant (P<0.05). Pearson correlation analysis showed that total protein (r=?0.290), albumin (r=?0.304), and calcium concentration (r=?0.252) were negatively correlated with DR (all P<0.05). Multiple linear regression indicated total protein, albumin and blood calcium concentration were the protective factors of DR (P<0.05). Conclusion: This study found that serum levels of total protein, albumin, and blood calcium levels are negatively correlated with DR. Maintaining a relatively high level of these indexes within the physiological range may provide new ideas for the prevention and treatment of diabetic retinopathy.
幽门螺杆菌(Helicobacter pylori,H P)感染是中心性浆液性脉络膜视网膜病变(central serous chorioretinopathy,CSC)的一个危险因素,但是在HP感染和CSC相关性的研究仍存在争议,目前有两种观点:一是认为HP感染可能是CSC的一个危险因素,二是认为两者之间并没有相关性。本文将就对HP感染是否为CSC危险因素文献进行综述,同时探讨其发病机制。
Helicobacter pylori (HP) infection is a risk factor for central serous chorioretinopathy (CSC). But the existing studies tend to support two distinctively different trends regarding the link between HP infection and CSC. The first group tend to support that: HP infection may be a risk of CSC, and the second tend to claim to no correlation between the two. This paper will review the literature on whether HP infection is a risk factor for CSC and discuss its pathogenesis.