Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0403608 (ureter)
 9,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The neurofibromatosis type 1 (NF1) gene is considered a tumor-suppressor gene whose product acts upstream of ras. The ras gene is an oncogene very commonly detected in human cancers and consists of three families, H-ras, K-ras and N-ras. These genes are converted to active oncogenes by point mutations in codon 12, 13, or 61. Examination was made of the mutations of these genes in 39 urothelial malignant tumors (31 bladder cancer, 6 renal pelvic tumor, and 2 ureter tumors) using polymerase chain reaction single-stranded conformation polymorphism and direct sequencing methods. Three of 39 (7.7%) cases showed mobility shifts in the ras family gene but no point mutations in NF1 and N-ras genes could be detected. Mutations were found in 1 case in H-ras at codon 13 (GGT-GTT/GGT) and K-ras at codon 12 in 2 cases (GGT-GCT/GGT, GGT-GTT/GGT). All 3 cases had progressed far beyond grade 2 and stage pT2. It follows from the above that NF1 and ras gene mutations are infrequent in the pathogenesis of urothelial tumors.
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PMID:Infrequent involvement of mutations on neurofibromatosis type 1, H-ras, K-ras and N-ras in urothelial tumors. 853 97

Management strategy for upper urinary tract calculi in small children is still a matter controversial. We report successful management of ureteral stone with transurethral ureterolithotripsy (TUL) in 2 boys weighing around 10 kg. Case 1: A 2-year-old boy (78 cm in height, 9.6 kg in weight), who received hydrocortisone and fludrocortisone for the treatment of 21-hydroxylase deficiency, was referred to our hospital with a right 9-mm lower ureteral stone. For TUL, a 7.5 Fr rigid cystoscope was introduced into the ureter directly after dilation of the ureteral orifice. By using Holmium:YAG laser for lithotripsy, complete stone evacuation was achieved. Stone analysis showed the composition of calcium phosphate and calcium oxalate. Case 2: A 1-year-old boy (80 cm in height, 10.5 kg in weight) with neurofibromatosis type 1 was referred to our hospital with a left 7.5-mm ureteral stone at the ureteropelvic junction. TUL was performed using a 4.5 F rigid ureteroscope and Holmium:YAG laser. No residual stone was identified. Stone analysis showed the composition of calcium oxalate. TUL is a safe and feasible option for small children, even in boys weighing approximately 10 kg.
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PMID:[TRANSURETHRAL URETEROLITHOTRIPSY FOR UPPER URINARY TRACT STONE IN SMALL CHILDREN WEIGHNING AROUND 10KG]. 2671 89