ABSTRACT
The mutation of FBN1 gene results in the abnormality of its encoded fibrillin-1 protein, which affects musculoskeletal growth and results in two opposing phenotypes of tall and short stature, with clinical manifestations of Marfan syndrome and acromelic dysplasia.Acromelic dysplasia caused by FBN1 mutation includes acromicric dysplasia(AD), geleophysic dysplasia(GD)and Weill-Marchesani syndrome(WMS). As some FBN1 mutations have been reported to cause both AD and GD.The dysregulation of TGF-β signal pathway is the underlying mechanism of acromelic dysplasia.Currently, there is no specific treatment, mainly symptomatic treatment, early identification, diagnosis and treatment will improve prognosis of patients.This article will review the pathogenesis, clinical phenotype, treatment and follow-up of acromelic dysplasia caused by FBN1 mutation.
ABSTRACT
Objective:To investigate the expression of serum microRNA (miR)-92 in patients with liver cancer and its relationship with poor prognosis.Methods:The clinical data of 70 patients with liver cancer in the First People′s Hospital of Huzhou City, Zhejiang Province and the Central Hospital of Huzhou City, Zhejiang Province from May 2015 to May 2018 were retrospectively analyzed. The miR-92 expression level was detected by real-time quantitative polymerase chain reaction method and compared with that of 80 healthy subjects. Receiver operating characteristic (ROC) curve was drawn to evaluate the efficacy of serum miR-92 in diagnosing liver cancer and early stage (stage Ⅰ to Ⅱ) liver cancer. The relationship between serum miR-92 expression level and clinicopathological characteristic was analyzed. Independent risk factors affecting the prognosis in patients with liver cancer were analyzed by multivariate Cox regression model.Results:The expression level of serum miR-92 in patients with liver cancer was significantly higher than that in healthy subjects (4.10 ± 1.74 vs 1.88 ± 0.78), and there was statistical difference ( P<0.05). ROC curve analysis result showed that the area under curve (AUC) of serum miR-92 for the diagnosis liver cancer was 0.874, the best cut-off value was 2.43, the sensitivity was82.86%, and the specificity was 86.25%; the AUC of serum miR-92 for the diagnosis early liver cancer was 0.755, the best cutoff value was 2.38, the sensitivity was 68.57%, and the specificity was 84.42%. The serum miR-92 expression level was related to TNM stage and lymph node metastasis ( P<0.01), but not related to gender, age, tumor diameter, history of hepatitis, liver cirrhosis, degree of differentiation and portal vein tumor thrombus ( P>0.05). The 5-year overall survival rate in liver cancer patients with high serum miR-92 expression was significantly lower than that in liver cancer patients with low serum miR-92 expression (17.1% vs. 31.5%), and there was statistical difference ( χ2 = 5.561, P<0.05). Multivariate Cox regression analysis result showed that miR-92 was an independent risk factor affecting the prognosis in patients with liver cancer ( HR = 0.282, 95% CI 1.179 to 3.562, P<0.05). Conclusions:The expression level of serum miR-92 in patients with liver cancer is significantly increased, which plays an important role in the progression of the disease. Serum miR-92 can be used as an indicator for early diagnosis and prognosis evaluation of liver cancer.
ABSTRACT
Objective:To investigate the expression of autophagy related genes microtubule-associated protein 1 light 3 (LC3) and forkhead box protein 1 light 3 (FoxO1) in gastric cancer tissues and its significance. Methods:The expression of LC3 and FoxO1 protein were examined by immunohistochemical SP method in 29 gastric cancer tissues and adjacent cancer tissues, their relationship with some tumor pathological parameters was analyzed. Results:The positive rates of expression of LC3 and FoxO1 protein in gastric cancer tissues were significantly higher than those in adjacent cancer tissues (P<0.01) .The expression level of LC3 in gastric cancer tissues was significantly correlated with tumor differentiation,lymph node metastasis,clinical stage and depth of tumor invasion, while it had no correlation with gender, age, tumor location and size of gastric cancer. The expression level of FoxO1 in gastric cancer was significantly correlated with tumor differentiation,while it had no correlation with gender,age,tumor location,size of gastric cancer,lymph node metastasis,clinical stage and depth of tumor invasion.Conclusion:Expression level of autophagy related genes LC3 and FoxO1 increased in gastric cancer tissues, and both of them are correlated with tumor differentiation, moreover, a high expression of FoxO1 is an frequent event in early gastric cancer, which suggested that increased level of autophagy activity plays an important role in promoting the occurrence and development of gastric cancer.