Germline genetic variations at 11q13 and 12p11 locus modulate age at onset for renal cell carcinoma.

PURPOSE: Few risk factors have been identified for renal cell carcinoma. We performed a validation study in a population with a European background to identify the most significant variants previously identified in association with renal cell carcinoma risk. MATERIALS AND METHODS: We performed a case-control validation study after recruiting 463 controls and 463 patients with a histologically confirmed diagnosis of clear cell renal cell carcinoma. For each patient and matched control we genotyped 8 single nucleotide polymorphisms selected from previous studies to evaluate the association between candidate single nucleotide polymorphisms and renal cell carcinoma susceptibility. RESULTS: After adjusting for patient age, gender, smoking status and body mass index the AG + AA genotypes from rs7105934 (11q13) were associated with a decreased risk of renal cell carcinoma (OR 0.50, 95% CI 0.33-0.75, p = 0.001) and the AC + CC genotypes from rs1049380 (ITPR2) were associated with an increased risk (OR 1.66, 95% CI 1.28-2.16, p <0.001). Kidney cancer developed at an older age in patients carrying the dominant risk allele A for rs7105934 (mean age at diagnosis 73.1 vs 68.9 years, p = 0.002) and at a younger age in those carrying the dominant allele C for rs1049380 (mean 68.1 vs 70.8 years, p = 0.005). CONCLUSIONS: In what is to our knowledge the first validation study of the main 8 single nucleotide polymorphism variants associated with renal cell carcinoma susceptibility we confirmed the association of 2 single nucleotide polymorphisms with the risk of renal cell carcinoma. Each variant influenced patient age at disease diagnosis.

Impact of laparoscopic sacrocolpopexy on symptoms, health-related quality of life and sexuality: a medium-term analysis.

OBJECTIVE: To evaluate the impact of laparoscopic sacrocolpopexy on symptoms, health-related quality of life (HRQL) and sexuality among women with symptomatic urogenital prolapse (UGP). PATIENTS AND METHODS: A prospective analysis was carried out including 148 women with symptomatic UGP. Baseline characteristics, medical and obstetric history were recorded. The Pelvic Organ Prolapse Quantification (POP-Q) classification was used to stage the UGP. Validated tools were used to evaluate symptoms (Pelvic Floor Distress Inventory, PFDI-20) and HRQL (Pelvic Floor Impact Questionnaire, PFIQ-7). Sexual function was evaluated using the Pelvic organ prolapse urinary Incontinence Sexual Questionnaire (PISQ-12). Measurements were recorded at the preoperative examination, then at 3 and 12 months after surgery. We compared the follow-up results with preoperative data. RESULTS: The anatomical results at 3 months showed a significant correction (P < 0.05) relative to the preoperative values, on the three pelvic floor parameters measured, with a clinical relapse rate of 6.3%. This improvement remained significant after 12 months (P < 0.05). There was no difference between the results obtained at 3 months and those at 12 months. At 3 months compared with the preoperative data, there was a significant improvement in PFDI-20 total mean score (32.24 vs 94.31, P < 0.05). At 12 months, the improvement remained significant (38.06 vs 94.31, P < 0.05) for all scores compared with the preoperative scores. Again, there was no difference between results at 3 months, and those at 12 months. The results showed a significant improvement in the PFIQ-7 score at 3 (16.61 vs 64.04, P < 0.05) and 12 months (18.21 vs 64.04, P < 0.05). There was no significant difference between the scores at 3 months and those at 12months. The total PISQ-12 score was linked significantly to urinary symptoms (P < 0.05), pelvic symptoms (P < 0.05) but not with ano-rectal ones. At 3 months, the total mean PISQ-12 score had improved significantly compared with the preoperative score (35.42 vs 32.07, P < 0.05). At this time, only two items of the PISQ-12 questionnaire were significantly increased: 'existence of negative emotions during sexual activity' (P < 0.05) and 'the avoidance of sexual activity because of prolapse' (P < 0.05). The total mean score remained significantly improved at 12 months (36.56 vs 32.07, P < 0.05) and there was no statistical difference compared with the results at 3 months. CONCLUSIONS: Laparoscopic sacrocolpopexy resulted in the early improvement (primarily during the first 3 months) of all symptoms, HRQL and sexual function. This improvement was persistent in the medium term. Symptoms linked with UGP had different effects on sexuality fields. Anatomical improvement was not related to an improvement in all sexual fields.

Effect of two injections of non-adjuvanted influenza A H1N1pdm2009 vaccine in renal transplant recipients: INSERM C09-32 TRANSFLUVAC trial.

BACKGROUND: Enhancing vaccine immunogenicity in kidney transplant recipients, particularly against influenza, is required since the immunosuppression used to prevent graft rejection limits vaccine immunogenicity. We therefore investigated the immunogenicity and safety of a double dose non-adjuvanted vaccination regimen against influenza H1N1pdm2009 in kidney transplant adult recipients. METHODS: A prospective single-arm study was conducted including 121 renal transplant recipients under triple immunosuppressive regimen. Patients received 2 injections (day 0, day 21) of an inactivated, non-adjuvanted H1N1pdm2009 vaccine. Immunogenicity (hemagglutination-inhibition [HI] antibodies and anti-hemagglutin [HA] specific T cells) was evaluated after one and two injections (day 21, day 42) and at 6 months (day 182). RESULTS: The seroprotection rate (HI antibody titer≥1/40) was 19% at day 0 (n=119), 53% at day 21 (n=118), 60% at day 42 (n=116) (p=0.013; day 42 vs. day 21) and 56% at day 182 (n=113). The seroconversion rate was 24% and 32%, the geometric mean fold rise was 3.7 and 4.6 after the first and second injections, respectively. T-cell immunity to the H1N1pdm2009 vaccine showed a two-fold increase from baseline, though not statistically significant, in H1N1pdm2009-HA-specific CD4+ and CD8+ T cells in 34% and 48% of cases, respectively. No rejection episodes related to vaccination were observed while the donor-specific antibodies and creatinine clearance remained unchanged throughout the study. CONCLUSION: Administration of two doses of the non-adjuvanted influenza H1N1pdm2009 vaccine in renal transplant patients is safe and induces a significant seroprotection, not strong enough yet to meet European or US requirements for adults below 60 years, but comparable to seroprotection levels usually observed in the non immunosuppressed elderly population or conferred by a single dose of adjuvanted vaccine in solid organ transplant recipients. These results provide useful indications for future strategies required to improve immunogenicity of vaccines against influenza in transplanted patients.

Management of renal cell carcinoma in sigmoid kidney.

Crossed renal ectopia is a rare congenital malformation. We report a case in a 77-year-old man presenting with a left lower abdominal mass. Abdominal computed tomography showed a vascular lesion that developed in a right-to-left crossed-fused renal ectopia. The patient was treated with radical heminephrectomy. Appropriate preoperative imaging and surgical technique for the isthmusectomy are highlighted.

Combination of polymorphisms from genes related to estrogen metabolism and risk of prostate cancers: the hidden face of estrogens.

PURPOSE: The association between common functional polymorphisms from the CYP17, CYP19, CYP1B1, and COMT genes involved in the estrogen metabolism and the risk of prostate carcinoma was evaluated. PATIENTS AND METHODS: The study investigated 1,983 white French men (1,101 patients with prostate cancer and 882 healthy controls) aged between 40 and 98 years. The different alleles and genotypes were analyzed according to case-control status, aggressiveness pattern of the tumors, age at onset, and family history of cancers. RESULTS: The VV (high activity) genotype of the V432L polymorphism from CYP1B1 (odds ratio [OR] = 1.36; 95% CI, 1.03 to 1.79; P = .031), and the long allele (> 175 bp) of the TTTA repeat from CYP19 (OR, 1.26; 95% CI, 1.08 to 1.47; P = .003) were significantly associated with the risk of prostate cancer. An additive effect was observed when we combined the two at-risk alleles (OR = 1.63; 95% CI, 1.24 to 2.13; P < .001). The association was stronger for the CYP1B1 VV genotype (OR = 1.55; 95% CI, 1.13 to 2.13; P = .007) among the group of patients with highly aggressive disease. Stratification by age at onset showed that the associations of CYP1B1 and CYP19 variants were largely confined to the younger prostate cancer patients. CONCLUSION: This association between polymorphisms from genes related to estrogen metabolism and prostate cancer risk suggest new clinical considerations in the management of prostate cancer: the development of new prevention trials based on genetic profiling and the evaluation of specific inhibitors involving the estrogen pathways.

[Study of the safety of double J ureteric stents]. / Etude de tolérance des endoprothèses urétérales de type double J.

INTRODUCTION: Endoscopic placement of ureteric stents was first described in 1967 by Zimskind. Few studies have evaluated the impact of double J ureteric stents on the patient's quality of life. This prospective study was designed to evaluate the safety and morbidity associated with ureteric stents. PATIENTS AND METHODS: From February 2001 to June 2003, 115 patients (64 men and 51 women; mean age: 49.5 years [range: 19-90]) were included in this study. Ureteric stents were placed under general anaesthesia for urolithiasis (80 cases), ureteroplasty (25 cases) and extrinsic ureteric compression (10 cases). 28 cm 7F polyurethane stents were used in every case. Patients with double J stent for renal transplantation or pregnancy were excluded. The safety of stents was evaluated on the day of removal by a questionnaire based on a 100 mm visual analogue scale (VAS). RESULTS: The mean duration of stenting was 91.8 days (range: 10-287). Macroscopic haematuria was reported in 56% of cases, dysuria was reported in 36% of cases and urgency was reported in 78% of cases. The mean score on the VAS was 44 (0-100) for global impression, 41 (0-100) for bladder pain, 41 (0100) for low back pain, 62 (2-100) for low back pain during micturition and 32 (0-100) for straining on the stent. CONCLUSIONS: Double J stents are associated with high morbidity, which is sometimes underestimated by operators. Our study confirms that the duration of stenting must be as short as possible in order to improve patient comfort, which implies rapid organization of the aetiological management of these patients.

[Anterograde flexible ureteroscopy for stones of the uretero-sigmoid junction of a Mainz II pouch]. / Urétéroscopie souple antégrade pour calcul de la jonction urétéro-sigmoïdienne sur dérivation de type Mayence II.

The incidence of stones after urinary diversion is variable but considerable. The authors report the case of a patient with a stone of the uretero-sigmoid junction of a Mainz II pouch occurring three years after radical cystectomy for recurrent carcinoma in situ refractory to conservative treatment. The patient was treated by anterograde Holmium:YAG laser flexible ureteroscopy. This clinical case illustrates the role of anterograde flexible ureteroscopy combined with Holmium:YAG laser as a minimally invasive, sale and effective technique for the management of stones in a urinary diversion.

[Multiple endocrine neoplasia type 1: a possible cause of severe and recurrent urolithiasis]. / Néoplasie endocrinienne multiple de type 1: une cause possible de maladie lithiasique rénale sévère et récidivante.

Multiple endocrine neoplasia (MEN) is defined by the presence of at least two functionally unrelated endocrine gland tumours in the same subject. There are three types of MEN. MEN type 1 (or Wermer syndrome) is an autosomal dominant cancer syndrome. In the light of a case report, the authors recall the characteristics of MEN type 1 responsible for severe and recurrent urolithiasis and emphasize the need for systematic aetiological work-up for all patients presenting a first episode of urolithiasis according to the guidelines of the Association Française d'Urologie Stone Committee (CLAFU).

[Inferior calyx stone and flexible ureterorenoscopy to mobilize the stone before fragmentation]. / Calcul caliciel inférieur et urétérorénoscopie souple: mobiliser le calcul avant de le fragmenter.

Flexible ureterorenoscopy is recommended for the treatment of inferior calyx stones, 10 to 15 mm in diameter, particularly after failure of extracorporeal lithotripsy. It is recommended to mobilize an inferior calyx stone towards the renal pelvis or superior calyx before starting fragmentation. This manoeuvre is essential to preserve the ureterorenoscope. The objective of this technical note is to explain the stone "relocalization" manoeuvre and describe how in situ treatment of an inferior calyx stone can be dangerous for the flexible ureterorenoscope.

[Spontaneous splenic rupture during intrasplenic Kaposi's sarcoma in an HIV-positive patient]. / Rupture spontanée de la rate sur sarcome de Kaposi intrasplénique chez un patient séropositif pour le VIH.

Spontaneous splenic rupture is a rare cause of peritoneal bleeding. Etiology is usually infections (viral, bacterial or parasitic) and blood diseases (leukemia, lymphoma, dysglobulinemia). We report the first case of spontaneous splenic rupture secondary to hilar Kaposi's sarcoma in an HIV positive patient. Emergency splenectomy was performed to achieve hemostasis, and the etiological diagnosis of this spontaneous splenic rupture was based on the histological analysis.