RESUMO
Previously, we reported germline DNA variants associated with risk of urinary bladder cancer (UBC) in Dutch and Icelandic subjects. Here we expanded the Icelandic sample set and tested the top 20 markers from the combined analysis in several European case-control sample sets, with a total of 4,739 cases and 45,549 controls. The T allele of rs798766 on 4p16.3 was found to associate with UBC (odds ratio = 1.24, P = 9.9 x 10(-12)). rs798766 is located in an intron of TACC3, 70 kb from FGFR3, which often harbors activating somatic mutations in low-grade, noninvasive UBC. Notably, rs798766[T] shows stronger association with low-grade and low-stage UBC than with more aggressive forms of the disease and is associated with higher risk of recurrence in low-grade stage Ta tumors. The frequency of rs798766[T] is higher in Ta tumors that carry an activating mutation in FGFR3 than in Ta tumors with wild-type FGFR3. Our results show a link between germline variants, somatic mutations of FGFR3 and risk of UBC.
Assuntos
Cromossomos Humanos Par 4 , Predisposição Genética para Doença , Variação Genética , Neoplasias da Bexiga Urinária/genética , Alelos , Intervalo Livre de Doença , Europa (Continente) , Feminino , Genótipo , Humanos , Masculino , Modelos Genéticos , Mutação , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética , Recidiva , Risco , FumarRESUMO
OBJECTIVES: To review indications, results and endourologic alternatives to the pyeloplasty technique. METHODS: We describe the surgical technique proposed by Schluesser et al., which was applied to 9 patients in our series. Another 4 patients underwent a simple laparoscopic pyelolisis. RESULTS: Results obtained with laparoscopic dismembered pyeloplasties are completely comparable with those obtained with the conventional Anderson Hynes Pyeloplasty. Outcomes were very favourable in 7/9 patients in the series; another one shows a discrete improvement and the other one did not return for control. Is does not happen the same with pyelo-ureterolysis. Two of them had a good outcome, other two remain the same, and another one has not had his control yet. CONCLUSIONS: After 8 years, laparoscopic pyeloplasty has consolidated as the elective technique in cases of recoverable hydronephrosis, secondary to crossing vessels or which have a redundant renal pelvis. A few important modifications to the technique have been proposed; exceptions are that it can also be done by retroperitoneoscopy and that in some cases equally good results may be obtained with the Fenger's laparoscopic pyeloplasty.
Assuntos
Hidronefrose/cirurgia , Pelve Renal/cirurgia , Laparoscopia/métodos , Procedimentos Cirúrgicos Urológicos/métodos , Adulto , Drenagem , Procedimentos Cirúrgicos Eletivos , Feminino , Humanos , Obstrução Intestinal/etiologia , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Pielonefrite/etiologia , Stents , Resultado do TratamentoRESUMO
OBJECTIVES: Current trends in the treatment of varicocele are focused on outpatient procedures of high and complete ligature of the spermatic vascular pedicle or percutaneous embolization. Laparoscopic varicocelectomy competes with them and other minimally invasive techniques such as chemical or thermal sclerosing therapy of the spermatic veins. METHODS: We perform a bibliographic review of the Spanish and Anglo-Saxon literature with the aim of evaluating the real weight of the laparoscopic technique, and at the same time show our personal experience. RESULTS: We found 8 papers in Spanish and 187 in English. Although the interest for laparoscopic varicocelectomy among Spanish urologists is very low, in other countries there is moderate interest for it, being in competition, though in disadvantage, with other outpatient minimally invasive techniques performed under local or regional anesthesia. CONCLUSIONS: Microlaparoscopy improves the overall position of this technique, mainly in cases of bilateral varicocele whenever an "en bloc" ligature of the spermatic artery and vein is performed.