Search

INTRODUCTION. The activities of Risk Management at a department of urology involve specialist health workers, technical and administrative staff as the common denominator is communication, simplification of processes and the quality of health care provision. The Authors present their experience on the management of risk in urology and an attempted classification of adverse events with possible dysfunction in the clinical management in urology department. MATERIALS AND METHODS. Our analysis included those adverse events that occurred from January to December 2008. A total of 18 adverse events were identified from 638 urological procedures divided according to diagnosis, treatment and type of hospitalization. RESULTS. The following events were assessed: number of cases with wound infection: 5 (4.7%), diastasis of the surgical wound: 3 (0.47%), catheter obstructions that required therapeutic endoscopic or surgical haemostatic procedures: 5 (0.78%), delayed administration of treatment: 3 (0.47%) and accidental fall out of bed: 2 (0.31%). CONCLUSIONS. The transition from a reactive to a preventive system remains the key to provide the citizen with the best health care in safety conditions. The involvement of different organizational and managerial levels in an optimal atmosphere in the absence of stress appears to be the most balanced and successful approach, especially putting aside the attitude of assigning error culpability. The transmission of individual experiences at a regional and national level will allow refining the project, which foresees the identification and classification of possible events and especially the ways and preventive procedures to achieve them. [ABSTRACT FROM AUTHOR]

Objectives: Systemic sclerosis is a multisystem autoimmune disease that causes chronic widespread obliterative vasculopathy of the small arteries associated with various degrees of tissue fibrosis. The prognosis of the disease depends largely on the visceral involvement; however musculoskeletal involvement is an important factor to functional disability. Suffering from a chronic auto-immune disease, such as Systemic Sclerosis, compromises the quality of life and the work ability. The rehabilitative treatment may be a viable option for improving the quality of life, but there are few studies to support this hypothesis in adequate population. (Rehabilitation is still an under- studied field of research). Aim: Proposed personalised rehabilitation programme, with a multilocalized, multidisciplinary approach specifically designed for patients with Systemic Sclerosis., Methods: Retrospective study. Setting: Rehabilitation Institute, inpatients. Population: Forty-three patients affected by systemic sclerosis. Methods: Patients underwent a rehabilitation programme of 3 weeks. Three cycles of rehabilitation in 3 consecutive years were administered. The priority outcome measure was the Health Assessment Questionnaire-Disability Index (HAQ-DI). The effectiveness of treatment cycles repeated at 1-year intervals was also compared to the first cycle., Results: Each treatment had an acute beneficial effect, leading to an improvement in the disability score after each of the three cycles (admission vs discharge: 1.2±0.6 vs 0.8±0.6, p minor than 0.0001, 1.3±0.6 vs 1.0±0.6, p minor than 0.0001 and 1.4±0.7 vs 1.1±0.7, p minor than 0.0001). The improvement in HAQ-DI scores after repeated cycles was progressively lower, but the difference in efficacy was not statistically significant (p=0.38 and p=0.17 for the comparison between the second and the first and the third and the first cycles respectively)., Conclusions: The multilocalized, multidisciplinary protocol developed by our rehabilitation team led to a significant reduction in disability perceived by patients, independently of the disease duration. The beneficial effects at the end of the first cycle were reproduced in the subsequent cycles. Nevertheless, there was a tendency of progressive efficacy reduction in following cycles, due to increased disability caused by disease stage. Impact of rehabilitation: We believe that our results demonstrate the utility of personalised, multilocalized, multidisciplinary rehabilitation treatment in slowing the evolution of systemic sclerosis., Competing Interests: The authors of this article have no conflict of interests to disclose., (Copyright© by Aracne Editrice, Roma, Italy.)

Paraganglioma of the urinary bladder is a rare neoplasm that derives from ganglion cells located in the bladder wall and may morphologically simulate a urothelial carcinoma. The authors present the case of a vesical paraganglioma incidentally detected by ultrasound, and entirely removed by transurethral approach from detrusorial wall. Conventional approaches include surgery (partial cystectomy) or laparoscopic procedures, with inspection by transurethral endoscopy; in this case we wanted to avoid the combined approach considering the lesion diameter and the possibility of an easy removal.

Renal cell carcinoma with sarcomatoid differentiation has an incidence of 4-6%. It occurs more frequently with clinical advanced presentation in relation to the greater biological aggressiveness. This variant was also found both in transplanted kidneys and in patients with von Hippel-Lindau syndrome. The authors present three cases of cancer all clinically evolving to rapidly progressive conditions. The pathologic staging was, respectively: Case 1 pT4 N0 M0 G4 case, Case 2 P G4 T3a N2 M0, Case 3 pT3a N0 M1 G4. The clinical responses related to protocols with VEGF drugs that seem to have better clinical response compared to immunotherapy are still being studied. From the pathologic point of view it is necessary, for all renal cell cancers, to search and identify the sarcomatoid components that, although poorly represented, give a negative prognosis.

Fournier's disease is a necrotizing fasciitis that prefers the male and which is located in the perineal area. In view of possible complications related to sepsis, systemic organ impairment and high mortality, is now considered a urological emergency. The main causes are infections of urethral and anorectal tract, immunodepression syndromes, diabetes mellitus and trauma. Infections are mixed with aerobic and anaerobic germs responsible of necrosis of tissue disorders due to the phenomena of necrotizing immunovasculitis disease. We present a case of Fournier's disease in perineal area, with gangrenosum necrotic evolution treated with antibiotic therapy, curettage of the necrotic tissue and local disinfection with saline and antiseptics solution. A total parenteral nutrition to ensure maximum perineal decontamination has been made. The extensive loss of substance scrotal was rebuilt in 25- day while the anal wound has healed spontaneously after complete surgical curettage.

Sarcomas of the retroperitoneum represent 0.2% of tumors and 15% of soft tissue sarcomas. Retro-peritoneal differentiated liposarcoma must be distinguished from the connective neoplasm of kidney. The main features of these tumors are: the rapid growth, infiltration of surrounding tissue, the tendency to local relapse and very fast metastasis (60-80%). Authors report a clinical case of a patient 61 old years with occasional reflected ultrasound is performed for lumbar pain a retro peritoneal mass. CT described a retro peritoneal mass that raised medially and displaced the left kidney. The patient was subjected to removal of the mass now to his kidney capsule, which was nevertheless preserved.The histological examination showed a picture of well-differentiated liposarcoma with areas of high-grade sarcoma with malignant morphology fibrohistiocytoma-like aspects and fibromyxomatosis. The well-differentiated liposarcoma has biological behavior similar to other sarcomas with high degree of adults with high local recurrence and distant metastases in 15-20% with overall mortality at 5 years about 30%. The most significant prognostic factor is the location of the cancer and the extent and degree of differentiation did not impact on the clinical prognosis is conditioned by the difficulty of obtaining a radical surgery in spite linfoadenectomia a retro peritoneal accurate.

Background and Objectives: Hereditary hemochromatosis (HHC) is a common, recessively inherited, genetic disorder associated with an abnormality of the HFE gene. Subjects homozygous for a point mutation in the gene coding sequence, leading to the amino acid substitution C282Y, are usually affected by the disease. A second point mutation, causing the amino acid substitution H63D, has been described, and compound heterozygotes for the two mutations or homozygotes for the H63D mutation are at risk of developing a milder form of HHC. In populations of northern European origin the C282Y substitution accounts for more than 90% of cases of HHC. In Italy, however, fewer than 70% of patients with HHC are homozygous or compound heterozygous for HFE mutations. Even in the absence of mutations in its coding region, the HFE gene might be involved in the pathogenesis of HHC through inhibition of transcription of the gene or reduced stability of its mRNA., Design and Methods: Since little is known about the regulation of HFE expression, we investigated 17 subjects heterozygous for one of the HFE mutations and with biochemical evidence of iron overload and compared the levels of wild type and mutated mRNAs in their peripheral blood cells. c-DNA regions flanking the mutated codons were amplified by reverse transcriptase polymerase chain reaction (PCR). PCR products derived from the two alleles were differentiated and quantified by digestion with restriction enzymes, electrophoresis in an agarose gel stained with ethidium bromide and densitometric scanning of the gel., Results: In all cases wild type and mutated mRNAs were expressed at similar levels, suggesting that reduced expression of an HFE allele coding a normal protein is not involved in the pathogenesis of iron overload. However, we can not rule out that a tissue specific regulation of HFE expression in the cells directly involved in iron absorption is altered and contributes to the pathogenesis of the disease. E INTERPRETATION AND CONCLUSIONS: Our results suggest that primary iron overload is a multigenic syndrome; this hypothesis is strongly supported by the recent demonstration that the juvenile hemochromatosis locus maps to human chromosome 1q.

We studied X-chromosome inactivation patterns in blood cells from normal females in three age groups: neonates (umbilical cord blood), 25-32 years old (young women group) and >75 years old (elderly women). Using PCR, the differential allele methylation status was evaluated on active and inactive X chromosomes at the human androgen receptor (HUMARA) and phosphoglycerate kinase (PGK) loci. A cleavage ratio (CR) > or = 3.0 was adopted as a cut-off to discriminate between balanced and unbalanced X-chromosome inactivation. In adult women this analysis was also performed on hair bulbs. The frequency of skewed X-inactivation in polymorphonuclear (PMN) cells increased with age: CR > or = 3.0 was found in 3/36 cord blood samples, 5/30 young women and 14/31 elderly women. Mathematical analysis of patterns found in neonates indicated that X-chromosome inactivation probably occurs when the total number of haemopoietic stem cell precursors is 14-16. The inactivation patterns found in T lymphocytes were significantly related to those observed in PMNs in both young (P < 0.001) and elderly women (P < 0.01). However, the use of T lymphocytes as a control tissue for distinguishing between skewed inactivation and clonal proliferation proved to be reliable in young females, but not in elderly women, where overestimation of the frequency of clonal myelopoiesis may appear.

Recent reports have described families in whom a combination of elevated serum ferritin not related to iron overload and congenital nuclear cataract is transmitted as an autosomal dominant trait. We have studied the molecular pathogenesis of hyperferritinemia in two families showing different phenotypic expression of this new genetic disorder. Serum ferritin levels ranged from 950 to 1,890 microg/L in affected individuals from family 1, and from 366 to 635 microg/L in those from family 2. Cataract was clinically manifested in family 1 and asymptomatic in family 2. By using monoclonal antibodies specific for the H and L ferritin subunits, serum ferritin was found to be essentially L type in both normal and affected individuals. The latter also showed normal amounts of H-type ferritin in circulating mononuclear cells; on the contrary, L-type ferritin contents were 13 times normal in family 1 and five times normal in family 2 on average. Serum ferritin was glycosylated in both normal and affected individuals. There was a close relationship between mononuclear cell L-type ferritin content and serum ferritin concentration (r = 0.95, P < .00001), suggesting that the excess production of ferritin in cells was directly responsible for the hyperferritinemia. The dysregulated L-subunit synthesis was found to result from different point mutations in a noncoding sequence of genomic L-subunit DNA, which behaves as an mRNA cis-acting element known as iron regulatory element (IRE). Affected individuals from family 1 were heterozygous for a point mutation (a single G to A change) in the highly conserved, three-nucleotide motif forming the IRE bulge. Affected members from family 2 were heterozygous for a double point mutation in the IRE lower stem. Using a gel retardation assay, the observed molecular lesions were shown to variably reduce the IRE affinity for an iron regulatory protein (IRP), which inhibits ferritin mRNA translation. The direct relationship between the degree of hyperferritinemia and severity of cataract suggests that this latter is the consequence of excessive ferritin production within the lens fibers. These findings provide strong evidence that serum ferritin is a byproduct of intracellular ferritin synthesis and that the L-subunit gene on chromosome 19 is the source of glycosylated serum ferritin. From a practical standpoint, this new genetic disorder should be taken into account by clinicians when facing a high serum ferritin in an apparently healthy person.

The authors report their recent experience in two cases of leiomyoma of the genitourinary tract not only because of relatively low incidence of this neoplasm in such sites, but especially since in the first case a previous urothelial lesion had led to the performance of a cystectomy and bilateral uretero-ileo-cutaneostomy, which led us to attribute the later urethral lesion also to a transitional-type neoplastic site; in the second case, symptomatologic evolution, palpation and scrotal echography aroused suspicion of testicular neoplasm and only the observation during surgical operation made it possible to decide for a testis-preserving therapy enabled by the reassuring extemporaneous histological report.

The authors report results in 10 patients (5 with renal neoplasms in a single kidney, 4 with healthy contralateral kidney, and one with a pathological opposite kidney following conservative surgery: 4 surgical enucleations and 6 partial nephrectomies.

Two cases of inverted urothelial papilloma are presented. In the first case the inverted papilloma was in the ureter and varying degrees of cellular atypia were demonstrated on histology: 7 years later, a single bladder lesion consisting of papillary transitional cell carcinoma and inverted papilloma developed in the same patient. In the second case a bladder tumor consisting of inverted papilloma mixed with papillary infiltrating transitional cell carcinoma was detected. The peculiar morphological findings, histogenesis and biological behavior of inverted urothelial lesions are discussed.