Left-sided congenital heart lesions in mosaic Turner syndrome.

In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age. The mosaicism included two cell lines, well-defined at the cytogenetic and molecular levels: a cell line which is monosomic for Xp and Xq genes (45,X) and another which is trisomic for pseudoautosomal genes that are present on the X and Y chromosomes and escape X inactivation: 45,X[8]/46,X,idic(Y)(pter→q11.2::q11.2→pter)[42]. This case generates two hypotheses about the contribution of genes linked to the sex chromosomes and the signaling pathways involving these genes, in left-sided heart diseases. The first hypothesis suggests the interaction between X chromosome and autosomal genes or loci of aortic development, possibly dose-dependent, and which could be in the framework of TGF-ß-SMAD signaling pathways. The second implies that left-sided congenital heart lesions involve sex chromosomes loci. The reduced dosage of X chromosome gene(s), escaping X inactivation during development, contributes to this type of CHD. Regarding our case, these X chromosome genes may have homologues at the Y chromosome, but the process of inactivation of the centromeres of the isodicentric Y spreads to the concerned Y chromosome genes. Therefore, this case emerges as an invitation to consider the mosaics of Turner syndrome and to study their phenotypes in correlation with their genotypes to discover the underlying developmental and genetic mechanisms, especially the ones related to sex chromosomes.

Laparoscopic treatment of a cystic pheochromocytoma of 6cms: A challenging case.

Cystic pheochromocytoma is a very rare entity.Preoperative diagnosis is difficult because clinical, biochemical and radiologic findings are usually not consistent with a pheochromocytoma.Open surgery is traditionally the gold standard to avoid cyst rupture.we present a case of a 6 cm cystic pheochromocytoma treated by laparoscopy.

Ectopic adrenal cortex tissue: an incidental finding during inguinoscrotal operations in pediatric patients.

OBJECTIVE: The aim of the present study was to assess the occurrence of ectopic remnants of adrenal cortex tissue encountered in pediatric patients who underwent groin surgical explorations. MATERIALS AND METHODS: We studied 1,862 patients with groin surgical explorations during a period of 12 consecutive years (1995-2006). Nodules resembling ectopic adrenal tissue were removed and the histopathological examination was performed using hematoxylin and eosin staining. RESULTS: We found ectopic adrenal cortex tissue along the spermatic cord in 31 patients in 1,862 groin surgical explorations, an overall incidence of 1.66%. None were found in females. Of the 31 cases, 20 were diagnosed as having undescended testes, 8 communicating hydrocele, and 3 inguinal hernia. Median age at diagnosis was 6.5 years (range 2-14). The nodules were found located along the spermatic cord, in the apex of the hernial sac, and between the testis and epididymis. Macroscopically, the nodules were round to oval in shape, 2-6 mm in diameter, and bright yellow to orange in color. Microscopically, they had three well-defined layers of adrenal cortex, with predominance of the zona fasciculata, surrounded by a fibrous capsule and none contained any medulla. CONCLUSION: Ectopic adrenal cortical tissue is a benign lesion. Although a routine search for this lesion is not indicated, it should be resected for histological analysis and differential diagnosis when it is found during a surgical procedure in this area.

[Mitrofanoff appendicovesicostomy in children: indication and results]. / Appendicovésicostomie de Mitrofanoff chez l'enfant: indications et résultats.

OBJECTIVE: To present the indications and short-term and long-term results of Mitrofanoff appendicovesicostomy in children. PATIENTS AND METHOD: Between 1992 and 2004, 13 boys and 17 girls underwent Mitrofanoff appendicovesicostomy with creation of a stoma in the right iliac fossa. The mean age was 10 years (range: 5-15 years). The indication for surgery was neurogenic bladder (28 cases) and altered bladder secondary to posterior urethral valve (2 cases). The diagnosis was established at an advanced stage with moderate renal failure in 16 cases (mean creatinine clearance: 60 ml/min/1.73 m2). RESULTS: Mean follow-up was 53 months (range: 24 to 156 months). All children were continent and 29 (96.66%) of them were continent after only one operation. Complications were minor essentially consisting of difficulties of intermittent catheterization (13.3%). Renal function deteriorated to end-stage renal failure in one case 6 years after the operation, remained stable in 9 cases (mean creatinine clearance: 72 ml/min/1.73 m2) and returned to normal in 6 cases. Intermittent self-catheterization was accepted by all children with complete readaptation to daily activities. CONCLUSION: Mitrofanoff appendicovesicostomy gives good results in children. It ensures good continence, a low complication rate and satisfactory school and social readaptation. The results of this study are comparable to those of the literature in terms of success and durability of this type of diversion in children.

Polymorphisms in XRCC1, ERCC2, and ERCC3 DNA repair genes, CYP1A1 xenobiotic metabolism gene, and tobacco are associated with bladder cancer susceptibility in Tunisian population.

Other than the established environmental risk factors associated with bladder cancer (BC), little is known about the genetic variations determining the individual susceptibility of this complex disease. This study aimed to investigate the relationship of BC with environmental agents and polymorphisms in XRCC1, ERCC2, and ERCC3 DNA repair genes and CYP1A1, CYP2D6, NAT1, and NAT2 xenobiotic metabolism genes through a hospital-based case-control study in Tunisia. The selection of the single nucleotide polymorphisms (SNPs) (rs25487, rs 13181, rs415407, rs446421, rs1058172, rs4921880, and rs1208) was performed using the dbSNP database. DNA genotyping was determined by PCR-RFLP after DNA extraction from whole blood. The risks of BC associated with every polymorphism as well as the studied environmental factors were estimated by multivariate-adjusted logistic regression using R software. In addition, gene-gene interactions were analyzed using generalized multifactor dimensionality reduction (GMDR) methods. Results showed that tobacco smoking and chewing parameters were significantly associated with BC risk. Single-gene variant analysis showed significant associations of the TT genotype of CYP1A1 and the rare GG genotype of ERCC2 with bladder cancer susceptibility (OR = 1.34, 95% CI 1.22-1.40, P < 0.0001). According to GMDR analysis, our findings indicated a significant association between BC and gene-gene interaction among the CYP1A1, ERCC3, and XRCC1. The present results suggest a potential role of XRCC1, ERCC2, ERCC3, and CYP1A1 besides tobacco intake in susceptibility to BC.

Pure primary neuroendocrine tumor of the prostate: a rare entity.

An extrapulmonary neuroendocrine tumor arising in the prostate gland has been described in several case series; however, pure and primary prostatic neuroendocrine tumors are very rare, their biologic behavior is not yet well known, and there are only a few reports in the literature describing the clinical features and management of this neoplasm. This article presents the clinicopathologic findings of 2 patients presenting with this disease. The published reports of primary pure neuroendocrine prostate tumors are discussed.

[Mitrofanoff continent urinary diversions: The opinion of 57 patients]. / Derivation urinaire continente de type mitrofanoff: point de vue de 57 patients.

OBJECTIVE: To evaluate the psychological repercussions and degree of adaptation in daily living of patients with a Mitrofanoff continent external urinary diversion. PATIENTS AND METHOD: Fifty seven patients were questioned about their Mitrofanoff continent urinary diversions, using a questionnaire translated into their spoken language (Arabic). RESULTS: The mean age was 29 years (range: 10 to 72 years). The indication for the diversion was a neurological cause in 91% of cases. Continence was achieved in every case, but after surgical revision in 3 cases. Self-catheterization was considered to be easy and not especially bothersome in 49 cases (86%). The diversion had occasional and moderate repercussions on activities of daily living, estimated between 3.5 and 17.5%. Sixteen patients (94%) returned to work and another fifteen (79%) successfully resumed their schooling. Nineteen patients (83%) who were sexually active preoperatively reported a satisfactory sex life after the operation. Finally, this operation was highly appreciated by the patients in 96.5% of cases for hygienic and psychological reasons. CONCLUSION: The Mitrofanoff urinary diversion allows satisfactory social, work and family rehabilitation provided the patient adapts to diversion management.

[Renal mucormycosis]. / Mucormycose rénale.

The authors report a case of disseminated mucormycosis presenting with left renal and muscular involvement in a 20-year-old immunocompetent man. The patient died rapidly before the diagnosis, established on histopathological examination of the nephrectomy specimen. This case illustrates the diagnostic difficulties and poor prognosis of this rare fungal infection.

[Appendiculoureteroplasty: about 6 cases]. / L'appendiculoureteroplastie: à propos de 6 cas.

OBJECTIVE: Through this work we want to specify the place of ureteroappendiculoplasty as an important technical procedure for ureteral substitution. MATERIAL AND METHODS: Between January 1997 and September 2002, 6 patients had an appendiculoureteroplasty. RESULTS: four women and two men with a mean age of 37 years (range 12 to 55 years) had a lesion of the right ureter. The decision is use the appendix was taken peroperatively in front of the difficulties associated with other procedures. The mean length of ureteral loss was 12 cm (6-15 cm), the pelvic portion of ureter was more damaged than other segments (4 cases). The appendix was suspended between the 2 ureteric extremities in 2 cases and between the ureter and the bladder in 4 cases. After a mean follow-up of 3 years (1-5 years), we noted a recovery of the kidney function in all cases. CONCLUSIONS: autotransplantation of the appendix can be considered a simple procedure that allows sometimes to reestablish the continuity of the ureter with good results.

Trace metal quantification in bladder biopsies from tumoral lesions of Tunisian cancer and controls subjects.

The incidence of bladder tumors has been dramatically increasing since the 1970s, possibly as a consequence of ongoing environmental pollution. Previous studies have provided some evidence of an association between cancer and exposure to carcinogenic metals. In order to examine the association between levels of toxic metals in patients with bladder tumors and controls, the amounts of arsenic, cadmium, chromium, and nickel were measured in tumoral lesions and adjacent normal part of the bladder mucosa excised for carcinoma and compared with those in the bladder mucosa of volunteer subjects operated for non-neoplastic diseases. The quantification of metals in tissue was assessed by atomic absorption spectroscopy. In tumoral tissues of the excised bladder mucosa, content of Cr and Ni was significantly low compared to that of adjacent normal tissues and control tissues while that of As and Cd in normal tissues adjacent to the tumor were significantly elevated compared to controls. Though the sample size was small, the present study shows that concentrations of metals such as Cd, Cr, As, and Ni in bladder tissue may be used as a biomarker of exposure. On the basis of the results obtained in this study, high amounts of As and Cd in adjacent normal parts of the bladders with carcinomas compared to controls would strongly suggest possible, individual or synergistic, effects of these pollutants on enzymatic systems, priming an oncogenic pathway.

Cytogenetic damage in the oral mucosa cells of bladder cancer patients exposed to tobacco in Southern Tunisia.

Bladder cancer was associated to exposure to several pollutants which can be absorbed, inhaled, or possibly ingested. We analyzed the frequency of micronuclei (MNC) and binucleated cells (BNC) in exfoliated cells of the oral mucosa of 24 bladder cancer (BC) patients and 48 controls residing in Southern Tunisia. An assessment was carried out on the incidence of MNC and BNC in 1,000 cells per individual. The data were analyzed with SPSS, using the chi-square and the Mann-Whitney U test, α = 0.05. The frequency of MN cells in BC cases was 2.5-fold higher, than in the control group (P < 0.001), while the difference for BNC between both groups was not significant. The smoking habits, age, and gender significantly influenced the MN but not the BNC alterations. The results of our study showed significantly increased frequencies of MN but not of BNC in exfoliated oral cells of BC patients associated with the smoking status, sex, and age. This study provides preliminary evidence that the frequency of MN in oral mucosa could be a predictive biomarker for cancers in parts of the body other than the upper aerodigestive tract, such as BC. Further scrupulous investigations are certainly warranted in order to implement this assay as a routine test in the planning and validation of cancer surveillance and prevention programs.

Low-level arsenic exposure is associated with bladder cancer risk and cigarette smoking: a case-control study among men in Tunisia.

Although exposure to high levels of arsenic is associated with excess bladder cancer risk, lower exposures generally are not. This study represents the first biomonitoring of arsenic exposure in Tunisia and focuses on a possible association with bladder cancer risk. In this context, 124 male bladder cancer cases and 220 controls were recruited and blood samples were analyzed to determine the concentration of As. The study subjects were stratified into median groups based on concentrations of arsenic in their blood. Blood arsenic (B-As) was significantly two to threefold higher in bladder cancer cases than in controls (p<0.05). The arsenic concentrations were significantly higher among both smokers and workers in construction. However, neither drinking water nor seafood was found to be incriminated as exposure sources. The adjusted risk ratios for B-As concentration categories 0.1-0.67 and ≥ 0.67 µg/L were 0.18 (95% CI=0.014-2.95) and 2.44 (95% CI=1.11-5.35), respectively. Arsenic levels were not found to be associated with tumor grade or stage. The considerable risk in the category of highest cumulative exposure argues for an association between bladder cancer risk and low-level arsenic exposure. Future investigations with larger samples and using techniques that allow the distinction of the different arsenic species should better elucidate this association. Furthermore, the modulation of arsenic level according to the histological grade may be of potential to be used as a diagnostic marker of the disease process and its possible relationship etiologically.

Cadmium in blood of Tunisian men and risk of bladder cancer: interactions with arsenic exposure and smoking.

Prior investigations identified an association between low-level blood arsenic (As) and bladder cancer risk among Tunisian men but questions remain regarding confounding by cadmium (Cd), a well-established bladder carcinogen. A case-control study of Tunisian men was re-examined to assess the levels of cadmium in blood and reparse the association between the simultaneous exposure to these metals and bladder cancer risk. Levels of blood Cd were significantly twice higher among cases than in controls (P<0.05) and were positively correlated with smoking and age. Additionally, analysis of metal levels among non-smokers according to the region of residence showed very high blood Cd and As levels for the coastal regions of Sfax and central Tunisia. After controlling for potential confounders, for low blood As levels (<0.67 µg/L), the OR for blood Cd was 4.10 (95 % CI 1.64-10.81), while for higher levels (>0.67 µg/L), it was reduced to 2.10 (CI, 1.06-4.17). Adjustment for Cd exposure did not alter the risk associated to As exposure. This study is the first to report the relationship between Cd exposure and risk of bladder cancer occurrence in interaction with smoking and As exposure. Smoking is shown to be the main exposure source to Cd in the Tunisian population but also environmental pollution seems to be responsible of Cd exposure among non-smokers. Exposure assessment studies encompassing a wider population are needed.

Primary renal angiosarcoma: Case report and literature review.

Angiosarcoma is a rare malignant tumour occurring in less than 2% of soft tissue sarcomas. Angiosarcoma involving the kidney usually represents metastasis from skin or visceral primary lesions, while angiosarcoma primarily occurring in the kidney is a very rare neoplasm. We report a case of angiosarcoma of the right kidney in a 59-year-old male. The computed tomography scan showed a solid tumour with a low increased density after administration of contrast medium. Histological examination of the piece of nephrectomy confirmed the diagnosis.

Living and cadaver donor transplant programs in the Maghreb.

In the Maghreb, organ failure constitutes a major public health problem, especially given the increasing number of patients with chronic renal failure and the high cost of care. In this study, we attempted to seek the recommendations, through a questionnaire, of various officials related to organ transplantation as well as leaders of ethics committees and religious groups in different countries of the Maghreb. The objective was to improve the rate of organ donation and transplantation. We received 36 replies (62%) within the prescribed time limit. In our survey, 83% of the respondents felt that living donor transplantation should be promoted initially, followed gradually by measures to increase cadaver donor transplantation to achieve a target of about 30 transplants with cadaver kidney donors per million inhabitants. To expand the donor pool, 83% of the respondents proposed to expand the family circle to include the spouse and in laws. To improve the cadaver donation activity, one should improve the organizational aspects to ensure at least 50 renal transplantations per year (100%) and provide material motivation to the treatment team proportional to the activity of organ donation and transplantation. Finally, 93% of the respondents suggested suitable moral motivation of the donors.

Cystic lymphangioma of the kidney: Diagnosis and management.

INTRODUCTION: Cystic lymphangioma is a rare benign vascular tumor that may arise in various sites, revealed at any age. Abdominal locations represent less than 10% of the cases preferentially involving the mesentery. We report a case of primary lymphangioma arising from the kidney. PRESENTATION OF CASE: A 50-year-old woman was admitted for severe left lumbar pain. Abdominal ultrasonography and computed tomography revealed a 6×10 cm multiloculated cystic mass with hydronephrosis, extending along the left renal hilum. Surgical exploration revealed a retroperitoneal cystic tumor. Anatomopathologic examination concluded it to be a cystic lymphangioma. DISCUSSION: The cystic lymphangioma is a benign malformative tumor of the lymphatic system. Surgery is the best curative treatment with complete excision, the prognosis is excellent. CONCLUSION: Primary renal lymphangioma is exceedingly rare. Medical imaging has certain limits for the diagnosis which required histological confirmation. The treatment of choice is surgical.

Oncocytome de la surrénale : Étude de cas.

RéSUMé: Nous rapportons ici un nouveau cas de cette entité afin de souligner les caractéristiques anatomocliniques utiles à son identification et ceci, en vue de la distinguer des corticosurrénalomes, qui sont de pronostic nettement plus sombre.