Intra-abdominal desmoplastic small round cell tumor in childhood: case report and review of the literature

Desmoplastic small round cell tumor (DSRCT) correspond to a recent clinicopathological entity, individualized in 1989 into the group of tumors with small round cells. This pathology puts ethiopathogenic, diagnostic, therapeutic and prognosis problems. Indeed, the ethiopathogenic is still unknown, diagnosis is asserted only by immuno-histochimic and cytogenetic study because of the big number of differential diagnoses and the anatomopathologic polymorphism. Its treatment is not well codified and its outcome remains dark in spite of therapeutic progress. The objective of this work is to report a personal observation of a DSRCT and to proceed to a review of the literature to clarify the epidemiological, clinical, paraclinical and therapeutic aspects of this rare tumor.     

Familial form of typical childhood absence epilepsy in a consanguineous context

Causative genes for childhood absence epilepsy (CAE) are unknown partly because families are small or phenotypically heterogeneous. In five consanguineous Tunisian families with at least two sibs with CAE, 14 patients fulfilled the diagnostic criteria for CAE (Epilepsia 1989;30:389–399). Linkage analyses or direct sequencing excluded CACNG2, CACNA1A, CACNB4, and CACNA2D2, orthologs of genes responsible for autosomal recessive (AR) absence seizures in mice. These families will help identify (a) gene(s) responsible for CAE.     

Soft tissues chondromas of the hand: a report of five cases

Soft tissue chondromas are rare slowly-progressing benign tumours. We report 5 new cases of soft-tissue chondromas of the hand. The median age at the time of diagnosis was 38 years. The evolution ranged from one month to 5 years. Standard radiographs showed variable images depending on the degree of calcification. An excision biopsy was performed in all patients. A well encapsulated and limited tumour was found at surgery. Positive diagnosis was provided by the pathology examination. Simple excision-biopsy should suffice to treat the condition but care should be taken to make the excision complete in order to avoid recurrence.     

Smoking and Polymorphisms in Xenobiotic Metabolism and DNA Repair Genes are Additive Risk Factors Affecting Bladder Cancer in Northern Tunisia

Cancer epidemiology has undergone marked development since the nineteen-fifties. One of the most spectacular and specific contributions was the demonstration of the massive effect of smoking and genetic polymorphisms on the occurrence of bladder cancer. The tobacco carcinogens are metabolized by various xenobiotic metabolizing enzymes, such as the super-families of N-acetyltransferases (NAT) and glutathione S-transferases (GST). DNA repair is essential to an individual’s ability to respond to damage caused by tobacco carcinogens. Alterations in DNA repair genes may affect cancer risk by influencing individual susceptibility to this environmental exposure. Polymorphisms in NAT2, GST and DNA repair genes alter the ability of these enzymes to metabolize carcinogens or to repair alterations caused by this process. We have conducted a case-control study to assess the role of smoking, slow NAT2 variants, GSTM1 and GSTT1 null, and XPC, XPD, XPG nucleotide excision-repair (NER) genotypes in bladder cancer development in North Tunisia. Taken alone, each gene unless NAT2 did not appear to be a factor affecting bladder cancer susceptibility. For the NAT2 slow acetylator genotypes, the NAT2*5/*7 diplotype was found to have a 7-fold increased risk to develop bladder cancer (OR = 7.14; 95% CI: 1.30–51.41). However, in tobacco consumers, we have shown that Null GSTM1, Wild GSTT1, Slow NAT2, XPC (CC) and XPG (CC) are genetic risk factors for the disease. When combined together in susceptible individuals compared to protected individuals these risk factors give an elevated OR (OR = 61). So, we have shown a strong cumulative effect of tobacco and different combinations of studied genetic risk factors which lead to a great susceptibility to bladder cancer.     

Clinical presentation and outcome of bladder schistosoma-unrelated squamous cell carcinoma: report on 33 consecutive cases

BACKGROUND: Pure squamous cell carcinoma (SCC) is a rare entity in Western countries. The management of SCC still remains similar to that of transitional carcinoma, although it is a different entity. A retrospective review is helpful in understanding the epidemiologic aspects, pathogenesis, and treatment and prognosis of schistosoma-unrelated SCC. PATIENTS AND METHODS: Between 1987 and 2002, 30 men and 3 women had been treated for pure SCC of the bladder, not related to bilharzias. RESULTS: The mean age of patients was 59 years (range, 29-83 years). They constitute 1.2% of all bladder tumors. At presentation, 2 patients had a distant metastasis. Eleven patients (34%) had a bladder stone with recurrent urinary tract infection; they had been treated since age 6-17 years. Twenty-one patients underwent radical cystectomy, followed by chemotherapy in 2 cases. At a mean follow-up of 5 years, 14 patients (66.6%) died of locoregional disease, with associated metastasis in 5 cases. Seven patients (33.3%) are alive without any evidence of disease. The survival rate was correlated with tumor stage. CONCLUSION: The unrelated SCC has an unfavorable prognosis, mostly caused by the locally advanced disease at the time of presentation. Distant metastases are not rare. The transfer of novel chemotherapy regimens and preoperative radiation therapy should be considered because pelvic recurrences are the leading cause of progression in SCC.     

Glomus tumours of the hand. About 10 cases

BACKGROUND: The glomus tumour is a rare benign cutaneous tumour, it is characterized by its clinical and evolutive particular features. AIM: The aim of this work is to bring out the various characteristics of the glomus tumours of the hand which remain relatively ignored by practioners. METHODS: The authors report a series of 10 cases of glomus tumours of the hand, the mean age at the moment of diagnosis was 36 years with a female prevalence of 70% of the cases. The diagnosis delay average was 2 years and half. The tumour was located on the right side in 6 cases and on the left one in 4 cases. The glomus tumour was developed under the nail in 8 cases and was latero pulpar in the both other cases. The diagnosis of glomus tumour was clinical in front of the existence of the three painful symptoms: spontaneous pain, pain on the cold and pain on the pressure. An RMI complement was carried out for two patients having no univocal symptomatology what made possible to confirm the diagnosis and to locate the tumour. A surgical biopsy of the tumour was performed for all patients. The histological study confirmed our clinical and per operational presumptions and showed a glomus tumour. RESULTS: After one year and two months of average retreat, our patients announced a spectacular transformation of their daily activities because of the disappearance of painful symptomatology, two cases of nail dystrophia were noted and there was no recurrence. CONCLUSION: The glomus tumour are rare benign cutaneous tumours, its diagnostic is essentially clinical and the treatment is exclusively surgical.     

Azathioprine for prevention of postoperative recurrence in Crohn's disease

BACKGROUND: Crohn's disease is a chronic inflammatory bowel disease that can involve any portion of the gastrointestinal tract. Up to 74% of patients require surgery. However, although resective surgery improves the clinical situation, relapses is frequent in most cases. THE AIM of this clinical trial was to evaluate the profile of patient who received AZA after surgical treatment in order to prevent postoperative recurrence. METHODS: This was a retrospective study including 17 patients with severe Crohn's disease attending our gastrointestinal unit from September 1998 to June 2004. Patients were eligible if they have severe Crohn's disease, undergoing curative surgical treatment and received azathioprine for the first time after surgery to prevent postoperative recurrence. RESULTS: The study population comprised 17 patients with Crohn's disease (10 men and 7 women; mean age, 27 years). The Crohn's disease was ileo-colic in 10 cases with perineal manifestations for 2 patients and ileal in 7 cases. The indications for surgery were stenosis in 10 cases, fistula in 5 cases, perforation in 1 case and corticosteroid-resistance in 1 case. The median following-up period was 40 months (9-80 months). During this period, only 1 patient reported severe adverse event and discontinued treatment due to acute pancreatitis. 1 patient was lost to follow-up and 3 patients had moderate clinical relapse. Maintained remission was obtained for 12 patients. None of our patients had surgical relapse. CONCLUSION: The result of this study shows the effect of Azathioprine in preventing both clinical and surgical relapses in patients with Crohn's disease who have undergone surgery.     

Lumboscopic treatment of simple renal cysts

AIM: To assess feasibility and efficiency of lumboscopy in the treatment of simple renal cysts. METHODS: We report 12 cases of patients presenting symptomatic simple renal cysts treated by lumboscopy from January 2000 to December 2004. The mean age was 57 years (43-72). They were 11 women and one man. The main revealing sign was pain in each case. A mass was found in 2 cases (16 %). Ultrasonography was realized in all cases. Computed Tomography was realized in 4 cases (33 %). It was a unique cyst in 9 cases (75 %), a double cysts in 2 cases (17 %) and 4 cysts in 1 case (8 %). The mean size of the cysts was 7.7 cm (5-16). A parapyelic cyst was found in one case. All the patients were operated through a retroperitoneal approach. Excision of cyst dome was made. RESULTS: The mean operating time was 80 min (50-160). No intraoperative complication was noted. The mean hospital stay was 3 days (1-4). All the cysts were found to be benign histologically. No recurrence is noted with a mean follow-up of 21 months (5-31). CONCLUSION: Lumboscopy is a safe and effective technique in the treatment of the symptomatic simple renal cysts with a low rate of complications and recurrence.