Preserved Axin expression is associated with an aggressive phenotype in invasive breast carcinomas

Reduced Axin expression has been associated with an aggressive behavior in lung and esophageal squamous cell carcinomas. Its role in breast cancer has not been defined. The aim of our study was to investigate the expression pattern of Axin protein in invasive breast carcinomas, in relation to the behavior and prognosis of the disease. Immunohistochemistry was performed for the detection of Axin expression in 232 breast cancer tissues. Univariate and multivariate statistical analyses were used to assess the relation of Axin expression with classic clinicopathological parameters, patients' survival and various biologic markers Human Epidermal Factor‐2 (HER‐2), Ki‐67, topoIIα, glycogen synthase kinase‐3β (GSK‐3β)]. Preserved cytoplasmic Axin expression was positively correlated to lymph node invasion, HER‐2 and GSK‐3β and inversely to Ki‐67 and topoIIα. Nuclear Axin was positively associated with tumor size. Stromal Axin showed a parallel association with lymph node status and HER‐2. In the subgroup of lobular breast carcinomas, preserved Axin was found to exert an unfavorable impact on patients' overall survival. Our findings indicate, for the first time, that in invasive breast cancer preserved Axin expression is associated with a more aggressive phenotype and that in the discrete subtype of lobular breast carcinomas Axin negatively influences patients' overall survival.     

The genetics of congenital aniridia—a guide for the ophthalmologist

Congenital aniridia is a rare panocular disease caused by fundamental disturbances in the development of the eye, characterized primarily by hypoplasia of the iris and macula. Severe secondary complications such as keratopathy, cataract, and glaucoma are common and often lead to considerable visual impairment or blindness. Many complications in aniridia patients are difficult to treat and present a challenge for the ophthalmologist. Increasingly, associated nonocular features of the disease are also being recognized. Over the past decades, major steps have been made in the understanding of the genetic basis of aniridia. Moreover, recent studies have prepared the ground for future treatment options based on specific mutations. Therefore, specific knowledge about genetics in aniridia has become more important than ever. We provide an overview of the field of aniridia genetics and its clinical implications.     

Humanized C3 Mouse: A Novel Accelerated Model of C3 Glomerulopathy

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高甘油三酯腰围表型与急性胰腺炎病情程度及预后的相关性分析

目的探讨高甘油三酯腰围表型(HTGW)与急性胰腺炎(AP)病情程度及预后的相关性。方法选取西南医科大学附属医院2018年9月-2019年8月收治的356例AP患者为研究对象,将患者分为甘油三酯和腰围正常组(NWNT)、单纯高甘油三酯组(NWET)、单纯腹型肥胖组(EWNT)、高甘油三酯腰围表型组(HTGW)4个组,对比4组患者的临床特点,包括年龄、性别、实验室指标、病情分级、并发症等。符合正态分布的计量资料组间比较采用one-way ANOVA检验,组内两两比较采用LSD-t检验;不符合正态分布的计量资料组间及组内两两比较均采用Kruskal-Wallis H检验。计数资料二分类变量组间及组内两两比较均采用χ2检验,有序多分类变量组间比较采用Kruskal-Wallis H检验,组内两两比较采用Mann-Whitney U检验。患者发生器官衰竭和胰腺感染坏死的影响因素采用单因素及多因素logistic回归分析。结果HTGW组中性粒细胞计数水平高于NWNT组,CRP水平高于NWNT、NWET组,肌酐水平高于NWNT组,总胆固醇、TG、低密度脂蛋白水平高于NWNT、EWNT组,高密度脂蛋白水平低于NWNT、EWNT组,血糖水平高于NWNT组,差异均有统计学意义(P值均<0.05)。HTGW组重型急性胰腺炎发生率高于其他3组,差异有统计学意义(χ2=189.519,P<0.001)。HTGW组感染性胰腺坏死和器官衰竭并发症比例均高于其他3组,差异均有统计学意义(χ2值分别为11.770、19.457,P值分别为0.008、<0.001)。单因素logistic回归分析显示性别、复发史是感染性胰腺坏死的危险因素,校正危险因素后,HTGW组发生感染性胰腺坏死的风险为NWNT的3.347倍[95%可信区间(95%CI):1.538~7.283,P=0.002];BMI、腰围甘油三酯指数、吸烟、糖尿病、HTGW是器官衰竭的危险因素(P<0.05),校正危险因素后,HTGW组发生器官衰竭的风险为NWNT的4.143倍(95%CI:1.299~13.219,P=0.016)。结论HTGW是重型急性胰腺炎发生的独立危险因素,影响患者的病情程度及并发症的发生,应早期识别和诊断此型患者,积极改善脂代谢紊乱,改善患者的病情及预后。