ABSTRACT
PURPOSE: Defensin alpha 6 (DEFA6) is cationic short peptide with known functional activities in innate antimicrobial immunity. DEFA6 is also highly expressed in colorectal cancer tissue. The mechanism and function of DEFA6 have not been reported how to play a significant role in carcinogenesis and cancer progression. The aim of this study was to evaluate the protumorigenic functions of DEFA6 in the colorectal cancer cell line and the clinical significance of DEFA6 expression in colorectal cancer patients.METHODS: DEFA6 expression was investigated by immunohistochemistry in 151 cases of colorectal cancer tissue and the association of DEFA6 expression was correlated with patient's cancer charecteristics.RESULTS: Immunohistochemistry analysis showed that the DEFA6 protein was expressed higher in advanced cancer group (high T stage, patients with lymph node metastasis, patients with vascular invasion) than early cancer group (low T stage, patients without lymph node metastasis, patients without vascular invasion) (P=0.007/0.032/0.047).CONCLUSION: As patient's survival usually depends on migration and invasion of the cancer cell, the high expression of DEFA6 in colorectal cancer cell is associated with patient's cancer charecteristics and could be a biomarker for colorectal cancer. The future study about characterization of DEFA6 will clarify its specific role in oncogenesis and its therapeutic potential.
Subject(s)
Humans , Biomarkers , Carcinogenesis , Cell Line , Colorectal Neoplasms , Defensins , Immunohistochemistry , Lymph Nodes , Neoplasm MetastasisABSTRACT
We report three cases of cystinuria, presenting with urinary stones. A 2-year-old girl presented with urinary difficulty, hematuria, dysuria of sudden onset, and her 7-month-old younger brother also was presented with urinary difficulty, irritability on urination & stone passage. Other 6-month-old boy was admitted due to sudden onset anuria. They had radioopague renal & ureter stones and stone analysis revealed mixed cystine stones. The diagnosis of cystinuria was confirmed metabolic studies and stone analysis. Lrinary amino acid analysis showed excessive excretion of dibasic amino acids(cystine, ornithine, lysine, arginine). And they all had hypercalciuria and hyperuricosuria. They were treated with combination of percutaneous lithotripsy for large obstructing senes a nd an oral drug therapy with sodium bicarbonate for rendering the urine more alkaline, and alpha-mercaptopropionylglycine(ThiolaR). This form of treatment was sucessful in our three cases with elimination of recurrent nephrolithiasis, but in one patient, nephrotic syndrome possibly caused by ThiolaR was developed. The nephrotic syndrome was recovered spontaneously after cessation of Thiola. A review of literatures was also attempted briefly.