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Complete, isolated trisomy of the short arm of chromosome 18 is very rare. To date, only 24 cases of trisomy 18p have been reported in the literature, making it difficult to define a potentially associated phenotype. However, the available evidence suggests that few clinical features are shared by these patients: only variable intellectual disability, variable facial dysmorphism and epilepsy are reported in a few patients. Although three inherited cases of trisomy 18p have already been reported, all were of maternal origin. We report on a patient carrying an isolated complete trisomy 18p translocated to the short arm of chromosome 14 and presenting with facial dysmorphism, mild intellectual disability and non-obstructive azoospermia. Chromosomal abnormalities are more frequent in infertile men with poor sperm quality than the general population. Both numerical and structural chromosomal aberrations have been already reported within the context of azoospermia. To our knowledge, this is the first patient with trisomy 18p to present a fertility impairment due to totally altered spermatogenesis and azoospermia. Although fertility disorders were not mentioned in the four previous reports of men with trisomy 18p, none of the latter had children. We suggest that azoospermia is a previously uncharacterized feature of trisomy 18p syndrome. We further hypothesize that two mechanisms could be responsible of the fertility impairment: a meiotic synapsis defect due to the additional 18p arm that blocks meiosis, and/or overexpression of a gene located on the 18p chromosome involved in the normal testicular development.

Objective: To evaluate the proportion of surgical workload, in terms of time and number of procedures, devoted to chronic renal failure surgery in an urology and transplantation operating room., Material and Methods: Analysis of the operative activity of the urology and transplantation operating room of Amiens Hospital over a period of one year (2003), by evaluating the number of procedures and the operating room occupation time (time between entry and exit from the operating room) recorded on ecology forms completed for each operation. Procedures performed in this operating room comprise conventional adult urological surgery and chronic renal failure procedures (from creation of venous access sites for haemodialysis to treatment of complications of renal transplantation)., Results: Surgical management of chronic renal failure in the operating room represents 22.6% of all procedures and 30.1% of the operating room occupation time. 69% of the renal transplantation operating time and 95% of kidney harvesting operating time are performed on an oncall basis., Conclusion: Operative activity related to chronic renal failure represents almost one third of the total surgical workload of a department managing this disease. These data justify the allocation of additional surgical resources adapted to this activity that is growing in parallel to the number of patients with chronic renal failure.

Emphysematous cystitis is a rare disease mainly encountered in poorly controlled diabetics, immunodepressed patients or patients with infravesical obstruction. The pathophysiology of this disease is characterized by the formation of carbon dioxide (CO2) present in the lumen and/or bladder wall, derived from bacterial fermentation of carbohydrates. The bacteria most frequently responsible are facultative aerobes-anaerobes (Escherichia coli) and more rarely strict anaerobes (Clostridium perfringens). The authors report a case of emphysematous cystitis in a context of pelvic trauma and fracture of the pelvis, complicated by secondary bladder rupture. The diagnostic and therapeutic aspects are discussed.

Introduction: Nephrogenic adenoma (NA) or nephrogenic metaplasia is a rare, benign urothelial tumour., Material and Methods: This retrospective study evaluated the circumstances of discovery, predisposing factors, and clinical course of seven patients with nephrogenic adenoma diagnosed between 1988 and 2000. The mean age of these patients was 55.7 years (range: 16 to 88 years). The mean follow-up was 24 months (range: 4 to 108 months)., Results: There are no specific endoscopic findings and the lesion was sometimes flat or papillary with an appearance that can be identical to that of bladder tumour. The diagnosis was always based on histological findings. Suggestive clinical signs were nonspecific and comprised: haematuria, dysuria, or urgency. Treatment was surgical with transurethral resection or electrocoagulation of the lesion, combined with elimination of the factors irritating the urothelial mucosa. In our experience, recurrences were observed in 28.5% of patients and occurred during the year following the initial treatment., Conclusion: Nephrogenic adenoma is a rare, benign urothelial tumour most frequently situated in the bladder. The presenting clinical signs are completely nonspecific and usually related to predisposing factors (infections, inflammation, bladder tumour). Only histological examination can provide the essential proof of the benign nature of this lesion. Endoscopic resection therefore has two objectives: diagnostic and therapeutic. The clinical course is characterized by recurrences.

The authors report the case of a patient with multiple urothelial tumours only sparing the superior left ureter and the urethra. The complex treatment consisted of a combination of resection of the entire urinary tract, except for the left kidney and its proximal ureter that was transplanted into the right iliac fossa, after ex vivo partial pyelectomy. This complex treatment regimen avoided the need for dialysis with a good functional and oncological result, three years later.

Lympoepithelioma, originally described within the nasopharynx is an undifferenciated malignant epithelial tumor with a prominent lymphoid stroma. We report a case of lymphoepithelioma of the bladder after intravesical BCG treatment for carcinoma in situ.

Uretero-arterial fistulas are exceptional complications: only about forty cases have been reported in the literature. The authors report new two cases of fistula between the common iliac artery and the ureter. One fistula occurred in a context of prolonged ureteric stenting after radiotherapy and pelvic surgery for cancer of the uterus, and the other occurred after an aorto-bifemoral allograft. These fistulas generally occur in a particular clinical context, associating several aetiological factors. The clinical presentation is dominated by often massive and intermittent haematuria. The most useful diagnostic examinations are retrograde ureteropyelography and arteriography. The proposed treatment options (nephrectomy, vascular bypass graft and even embolization) depend on the urgency of the situation and involve both the blood vessel and the urinary tract. The prognosis depends on early diagnosis, but preventive measures can be envisaged to decrease the risk of appearance of these fistulas in high-risk patients.

A possible Y linked form of congenital cataract is reported, but an autosomal dominant mode of inheritance cannot be ruled out.