Two types of deficit are commonly distinguished, depending on the level of residual APRT activity. Type I is complete enzyme deficiency. Type II shows residual activity in cell lysates, but enzyme activity is not demonstrable in intact cells. About 78% of the Japanese patients belong to type II. The diagnosis of the disease is based on stone analysis by infrared spectroscopy or microscopic examination of urine, which may reveal typical 2,8-DHA crystals. Molecular approach can identify mutations, which are responsible of this inherited disease. Excessive water intake, restriction of foods with high adenine contents and administration of allopurinol are useful treatments. APRT deficiency is a rare disease but we can consider this pathology in case of recurrent radiolucent stones after chemolitolysis.
Stone Cone® (Microvasive-Boston Scientific Corp, USA) is a device which prevents retrograde calculus migration during endoscopic ureterolithotripsy. We have studied the safety and efficacy of this device in endoscopic ureterolithotripsy with ballistic energy in proximal ureteral stones. MATERIALS AND METHODS. From 01/02/2006 to 01/02/2008 we carried out 36 ureterorenoscopies (URS) for proximal ureteral stones (average age: 46, range: 15-73). A ballistic energy was used for stones fragmentation. In 18 patients (Group A) we carried out URS with the aid of Stone Cone®, which was not used in the other 18 patients (Group B). Semirigid 8 Ch or 10 Ch Storz ureteroscope and ballistic lithotriptor Swiss Lithoclast Master EMS® were used. In cases of migration, edema, and ureteral damage, a ureteral stent was used. RESULTS. In Group B patients (URS performed without Stone Cone®) the migration of the whole stone, or of clinically significant fragments, occurred 8 times (45%). All of these patients underwent external shockwave lithotripsy (ESWL) at a center equipped with a lithotriptor. A ureteral stent was placed in 14 cases (78%). In Group A, the migration of a stone requiring ESWL treatment occurred only once (5%). The ureteral stent was placed 8 times (45%). We had no significant complications during the procedure. CONCLUSIONS. The Stone Cone® is a safe and easy-to-use device. The cost of this device can be balanced by the reduction of postoperative ESWL treatments for lithiasic fragments pushing up into the kidneys (p<0.01), and of ureteral stent applications at the end of the procedure (p<0.05).
Low grade fibromyxoid sarcoma is an uncommon soft tissue tumor. We present the case of a 83-year-old female who developed large mass in the right kidney. A nephrectomy was performed. The tumor measured 18,5x17,5x11,5 cm and on pathology evaluation was diagnosed as low grade fibromyxoid sarcoma. Currently, the patient is doing well without evidence of local recurrence and distant metastasis. Low grade fibromyxoid sarcoma of the Kidney is a very rare tumor. The metastasizing potential is high. Sometimes long interval between tumor presentation and metastasis is observed. The treatment of choice is surgery. The role of radiotherapy and chemotherapy is uncertain.
Splenogonadal fusion (SGF) is a rare congenital abnormality in which there is a fusion between spleen and gonad. Approximately 150 cases have been described in world literature. SGF can be continuous, where there is a connection between ectopic and orthotopic spleen, and discontinuous, with no connection. In our paper we report a case of SGF in a 36-year-old female with ultrasound and MR findings of space-occupying lesion in lower abdomen, and a review of the literature.
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