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INTRODUCTION AND HYPOTHESIS: In the current study we hypothesized that total knee arthroplasty might improve the overactive bladder symptoms by providing pain relief and improving physical function. METHODS: One hundred patients who underwent total knee arthroplasty were preoperatively evaluated for overactive bladder and 47 patients that met inclusion criteria were included in this study. All the patients included in the study were assessed both preoperatively and at the 3rd month postoperatively using the Overactive Bladder-Validated 8 (OAB-V8) questionnaire for overactive bladder symptoms, the Oxford Knee Score (OKS) for pain and physical function, and the International Physical Activity Questionnaire-Short Form (IPAQ-SF) for physical activity. RESULTS: The mean age of the patients was 65.4 ± 7 (56-83) years. The OAB-V8, OKS and IPAQ-SF scores significantly improved at the 3rd month postoperatively compared with the initial assessment. All the OAB-V8 domains, namely, frequency, urgency, nocturia, and urgency urinary incontinence, significantly improved following total knee arthroplasty. CONCLUSIONS: Our results showed that following total knee arthroplasty, overactive bladder questionnaire scores significantly improved at the 3rd month postoperatively.
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Artroplastia do Joelho , Bexiga Urinária Hiperativa , Incontinência Urinária , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dor , Inquéritos e QuestionáriosRESUMO
BACKGROUND It is unclear whether parenchymal thickness (PT), in combination with stone density measured by Hounsfield Units (HU), affects stone-free rates after PCNL. The aim of the present study was to investigate the relationship between PT in combination with stone density values and the outcomes of PCNL. MATERIAL AND METHODS From 2009 to 2014, data from 216 PCNL patients were prospectively analyzed. In total, 120 patients were included in the study. Using NCCT images, stone burden, stone localization, stone density as HU values, PT, and operative-postoperative parameters were recorded. RESULTS Stone localization, stone type, stone burden, and presence of hydronephrosis were statistically significant factors affecting stone-free status (p<0.001, p<0.001, p<0.01, and p<0.01, respectively). The stone-free rate in patients with thicker renal parenchyma was higher than in patients with lower parenchymal thickness (p<0.01). No correlation was detected between stone density and success rate (p>0.05). Drop in Hb (%) was only correlated with parenchymal thickness (p<0.01). In univariate analyses, factors that affected blood transfusion requirement were PT, BMI, and operative times (p<0.01, p<0.05, and p<0.05, respectively). CONCLUSIONS Stone location, stone burden, and presence of hydronephrosis detected with NCCT were factors affecting PCNL outcome. Stone density values did not correlate with the rate of bleeding or success of PCNL. PT measured by NCCT may predict bleeding and may guide surgeons in determining preoperative blood requirements. The outcome of PCNL appeared to be better in patients with thicker renal parenchyma and should be taken into consideration in the clinical evaluation of patients undergoing PCNL.
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Cálculos Renais/terapia , Nefrostomia Percutânea/métodos , Adulto , Transfusão de Sangue , Feminino , Humanos , Hidronefrose/terapia , Cálculos Renais/metabolismo , Litotripsia/métodos , Masculino , Pessoa de Meia-Idade , Tecido Parenquimatoso , Estudos Retrospectivos , Resultado do TratamentoRESUMO
The von Hippel-Lindau (VHL) tumor suppressor gene is mutated in at least 50% of sporadic clear-cell renal cell carcinoma (RCC). This leads to a pseudohypoxic state in which the pVHL complex does not degrade hypoxia-inducible factor. Subsequent intracellular hypoxia-inducible factor accumulation results in increased production of growth factors such as VEGF, responsible for angiogenesis, tumor proliferation and mitogenesis. Recently, a number of strategies have been designed to specifically target these pathways. The VEGF, its related receptor and the mammalian target of rapamycin (mTOR) signal transduction pathway, in particular, have been utilized as therapeutic targets. Clinical trials have demonstrated the survival benefit of these agents, particularly in clear-cell RCC. Today, sunitinib is recommended as first-line therapy for intermediate- or low-risk patients with metastatic RCC. Sorafenib is advised as second-line therapy, whereas temsirolimus is generally recommended as first-line treatment in high-risk patients. Everolimus is the new standard following sunitinib. High-risk patients appeared to benefit less than low-risk patients from bevacizumab plus IFN-alpha therapy. High-dose IL-2 has been proven effective in prolonging progression-free survival or overall survival, depending on risk group selection criteria. Although novel agents show a consistent effect as measured by objective response, no currently available data demonstrate that these agents will cure any patient.
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Inibidores da Angiogênese/uso terapêutico , Antineoplásicos/uso terapêutico , Interleucina-2/uso terapêutico , Peptídeos e Proteínas de Sinalização Intracelular/uso terapêutico , Neoplasias Renais/tratamento farmacológico , Inibidores da Angiogênese/farmacologia , Antineoplásicos/farmacologia , Intervalo Livre de Doença , Sistemas de Liberação de Medicamentos , Humanos , Interleucina-2/farmacologia , Peptídeos e Proteínas de Sinalização Intracelular/farmacologia , Transdução de Sinais/efeitos dos fármacosRESUMO
AIMS: To investigate the effect of sildenafil on uroflowmetry values of patients with lower urinary tract symptoms (LUTS) suggestive of benign prostatic enlargement (BPE). METHODS: Thirty-eight consecutive patients and 15 control subjects without voiding symptoms were enrolled in the study. All patients underwent uroflowmetry testing thrice on different occasions. The highest maximum urinary flow rate (Q(max)) values with a sufficient voided volume (> or =150 ml) were evaluated. The patients and controls were seen the day after the initial uroflowmetry measurements and were given 100 mg sildenafil. Afterwards uroflowmetry was repeated. The uroflowmetry values of both groups before and after sildenafil were compared. RESULTS: Of the 38 patients, 29 (76%) showed improvement in flow rates. The mean Q(max) was 11.4 +/- 0.39 and 15.7 +/- 0.74 ml/s before and after sildenafil, respectively (p < 0.0001). The mean percentage difference in Q(max) was +38% higher after sildenafil. The mean average flow rate (Q(ave)) and the mean voiding time values were also significantly improved. The mean voided volumes of the patients before and after sildenafil were 241 +/- 78 and 264 +/- 72 ml, respectively (p = 0.07). There were no significant differences in the Q(max), Q(ave) and voided volumes of the control group. CONCLUSIONS: Sildenafil exhibits a significant improvement in Q(max) and Q(ave) rates in men with LUTS.
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Inibidores de Fosfodiesterase/uso terapêutico , Piperazinas/uso terapêutico , Hiperplasia Prostática/fisiopatologia , Prostatismo/tratamento farmacológico , Prostatismo/fisiopatologia , Sulfonas/uso terapêutico , Urodinâmica/efeitos dos fármacos , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Inibidores de Fosfodiesterase/farmacologia , Projetos Piloto , Piperazinas/farmacologia , Hiperplasia Prostática/complicações , Prostatismo/complicações , Purinas/farmacologia , Purinas/uso terapêutico , Citrato de Sildenafila , Sulfonas/farmacologiaRESUMO
PURPOSE: To evaluate the effect of artificial CO2 pneumoretroperitoneum on bacterial translocation in an experimental retroperitoneoscopy model. MATERIALS AND METHODS: Eighteen adult male New Zealand White rabbits weighing 2.5 to 3 kg were divided into two groups. Group 1 (control group) consisted of 6 rabbits, while the remaining 12 served as the pneumoretroperitoneum group (group 2). In group 1, the left retroperitoneal space was dissected with a 50-mL balloon without CO2 insufflation, and the animals were kept under anesthesia for 3 hours with the balloons inflated. In group 2, after balloon dissection as in group 1, CO2 insufflation was applied at 1 L/min to achieve a pressure of 10 to 12 mm Hg for 3 hours. Afterward, all animals were sacrificed, and samples were taken from the blood, retroperitoneal area, lungs, liver, mesentery, heart, kidneys, ureters, bladder, colon, small intestine, and spleen and carried to the microbiology laboratory in Carry-Blair medium. Bacterial growth was evaluated using standard techniques. RESULTS: All animals survived the experimental procedures. None of the rabbits in the control group demonstrated any bacterial translocation in the sampled tissues. In the pneumoretroperitoneum group, one rabbit was found to have 10(2) colony-forming units of E. coli in the kidney, but this was considered to be the result of contamination, not translocation. CONCLUSION: Carbon dioxide pneumoretroperitoneum does not seem to cause bacteremia or bacterial translocation in this experimental model. Retroperitoneoscopy probably does not create any additional risk of septic complications.
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Translocação Bacteriana/efeitos dos fármacos , Dióxido de Carbono/farmacologia , Escherichia coli/fisiologia , Retropneumoperitônio/induzido quimicamente , Retropneumoperitônio/microbiologia , Animais , Modelos Animais de Doenças , Masculino , CoelhosRESUMO
INTRODUCTION: Finasteride is a 5-alpha-reductase inhibitor used in the medical treatment of benign prostatic hyperplasia (BPH) and appears to be effective in treating prostatic bleeding secondary to BPH. The exact mechanism of this effect is not known. The aim of this study was to evaluate the effects of finasteride on the vascular surface density (VSD), number of microvessels (NVES) and vascular endothelial growth factor (VEGF) expression of the rat prostate. MATERIALS AND METHODS: Nineteen adult male rats were used. Finasteride was given to 14, and there were 5 in the control group. Finasteride 80 mg/kg was administered daily via orogastric tube as a suspension for three months. Rats were sacrificed and vascular structures of the prostates were labelled immunohistochemically using CD31 antibodies. VSD and NVES of the prostates were assessed by means of a peroxidase labeled streptavidin-biotin method. VEGF expression was examined by immunohistochemistry using VEGF monoclonal antibody. RESULTS: Mean prostatic weights were decreased significantly in rats given finasteride (p=0.0001). Although an increase in VSD was detected in the finasteride group it was not significant (p=0.26). NVES was significantly increased in the finasteride group (p=0.033). No significant difference was detected between the two groups in terms of VEGF expression (p=0.48). CONCLUSION: Finasteride does not seem to decrease VSD, NVES and VEGF expression at the level of the rat prostate. The effect of reduction of bleeding in BPH is likely to be due to its effect on shrinking glandular hyperplasia which might enhance vessel wall stability rather than decreasing overall vascularity.
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Finasterida/farmacologia , Neovascularização Fisiológica/efeitos dos fármacos , Próstata/irrigação sanguínea , Próstata/química , Fator A de Crescimento do Endotélio Vascular/análise , Animais , Inibidores Enzimáticos/administração & dosagem , Inibidores Enzimáticos/farmacologia , Finasterida/administração & dosagem , Expressão Gênica , Hemorragia/tratamento farmacológico , Imuno-Histoquímica , Masculino , Tamanho do Órgão , Ratos , Ratos WistarRESUMO
AIM: To evaluate exposure to radiation during percutaneous nephrolithotomy (PCNL) by comparing balloon-type renal dilatation (BTRD) and amplatz-type renal dilatation (ATRD). MATERIALS AND METHODS: Retrospectively, 454 patients were documented and matched-pair analyses were performed. According to matched-paired criteria, in Group 1 (n = 78) BTRDs were used and in Group 2 (n = 78) ATRDs were used. Demographic, operative, and postoperative data including complications were recorded. Criteria for matched-pair analyses included age, gender, stone burden and localization, body mass index, presence of obstruction in intravenous urography, diabetes mellitus, previous extracorporeal shock wave lithotripsy and/or renal surgery even open and/or PCNL. RESULTS: The mean follow-up was 11.9 ± 1.1 months, and mean age was 44.8 ± 13.7 years. Time to provide accessing into kidney, total time of exposure to X-ray, and time of exposure to X-ray until accessing into kidney were significantly lower in Group 1 than Group 2 (p < 0.003, 0.006, and 0.039, respectively). CONCLUSIONS: BTRD may provide shorter exposure to radiation than ATRD for patients as well as operating room staff. Additionally, BTRD can provide rapid access into kidney than ATRD without significantly shorter operation time.
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Dilatação/instrumentação , Nefrolitíase/cirurgia , Nefrostomia Percutânea/instrumentação , Exposição à Radiação/análise , Exposição à Radiação/prevenção & controle , Radiografia Intervencionista/métodos , Adulto , Dilatação/métodos , Desenho de Equipamento , Análise de Falha de Equipamento , Feminino , Humanos , Masculino , Análise por Pareamento , Nefrolitíase/diagnóstico , Nefrostomia Percutânea/métodos , Projetos Piloto , Doses de Radiação , Proteção Radiológica/métodos , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Abscess formation of the corpus cavernosum is very rare. Here, we report a case of long-term anabolic androgenic steroid (AAS) abuse that is suspected to have facilitated the development of a corpus cavernosum abscess in a healthy bodybuilder. Cultures obtained from the abscess contained Staphylococcus epidermidis, a microorganism that almost exclusively affects immunocompromised patients. Therefore, prompt drainage of pus from cavernosal bodies should be the primary aim of the treatment. This case illustrates the potential danger of AAS suppressing the immune system and causing a serious infection.
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INTRODUCTION: The protective roles of metallothioneins (MT) against metal toxicity suggest that MT may have a functional role in cisplatin resistance. The aim of this study was to investigate the expression of MT in specimens of germ cell tumors and compare it with clinical sensitivity to cisplatin based chemotherapy. MATERIAL AND METHODS: Tissue blocks of primary GCT specimens obtained from 39 patients were examined immunohistochemically for MT expression. Staining intensity was evaluated according to the percentage of MT positive cells and graded as [-], [+] and [++]. The staining characteristics were compared with the clinical response to chemotherapy. RESULTS: Of the 39 tumors, 3 evidenced no MT expression while 26 and 10 specimens showed [+] and [++] staining, respectively. Although seminomas tend to stain weaker than non-seminomas, the difference of staining between them was not significant (p = 0.19). Of the 39 patients, 23 underwent cisplatin based chemotherapy. Of those, 6 progressed and 17 achieved complete remission. Of the non-responders, 5 showed [+] and 1 showed [++] staining. Six of the responders showed [+], 10 had [++] and 1 showed no staining. No association was found between MT staining and chemo-sensitivity (p = 0.53). CONCLUSIONS: MT expression in primary germ cell tumors did not differ between responding and non-responding patients and therefore may not be useful in predicting response to chemotherapy.
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Transitional cell carcinoma (TCC) of ureter and renal pelvis is relatively uncommon. Smoking, occupational carcinogens, analgesic abuse, Balkan nephropathy are the risk factors. Cytogenetic studies revealed that the most frequent aberration is the partial or complete loss of chromosome 9. Approximately 20-50% of patients with upper urinary tract (UUT) TCC have bladder cancer at some point on their course, whereas the incidence of UUT TCC after primary bladder cancer is 0.7-4%. Excretory urography and retrograde pyelography are the conventional diagnostic tools; however, ureteropyeloscopy combined with cytology and biopsy is more accurate. Grade and stage of the disease have the most significant impact on survival. Nephroureterectomy with bladder cuff excision has been the mainstay of treatment. Local resection may be appropriate for distal ureteral lesions especially when the disease is low grade and stage. Advances in endourology have made it possible to treat many tumors conservatively. Ureteroscopic and to a certain extent percutaneous surgical approaches are widely used today especially in patients with low grade, low stage disease. Endoscopic close surveillance is mandatory for these patients. Adjuvant topical therapies appear to be safe but confirmation of any benefits awaits the results of further large studies. More recently, laparoscopic techniques have become a viable alternative to open surgery, but long term cancer control data are lacking. Aggressive surgical resection does not affect the outcome of patients with advanced disease. Adjuvant radiotherapy is ineffective, and systemic chemotherapy results in a low complete response rate for patients with metastases.
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Carcinoma de Células de Transição , Neoplasias Renais , Neoplasias Ureterais , Carcinoma de Células de Transição/diagnóstico , Carcinoma de Células de Transição/etiologia , Carcinoma de Células de Transição/terapia , Terapia Combinada , Humanos , Neoplasias Renais/diagnóstico , Neoplasias Renais/etiologia , Neoplasias Renais/terapia , Pelve Renal/patologia , Neoplasias Ureterais/diagnóstico , Neoplasias Ureterais/etiologia , Neoplasias Ureterais/terapia , Neoplasias da Bexiga Urinária/diagnóstico , Neoplasias da Bexiga Urinária/etiologia , Neoplasias da Bexiga Urinária/terapiaRESUMO
The purpose of this study is to evaluate the expression of p53 and mdm2 and to determine whether they may be used as additional predictors of recurrence in superficial transitional cell carcinoma of the bladder. Paraffin sections of 80 patients with superficial transitional cell carcinoma of the bladder, who were treated with transurethral resection, were stained with p53 and mdm2 antibodies using the standard avidin biotin immunoperoxidase method. Nuclear staining for both p53 and mdm2 was calculated as the percentage of labeled nuclei out of a total number of tumor cells counted. The percentage of p53- and mdm2-positive cells showed a significant relationship with tumor grade and recurrence (p = 0.002 and p = 0.016; p = 0.01 and p = 0.003, respectively). In addition, a weak inverse relationship was found between p53 and mdm2 values (r = -0.184). p53 and mdm2 reactivities are valuable parameters in predicting recurrence in superficial bladder cancer. Thus, mdm2 expression appears to play a role in predicting biologic behavior in superficial transitional carcinoma of the bladder.
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Carcinoma de Células de Transição/metabolismo , Recidiva Local de Neoplasia/patologia , Proteínas Nucleares , Proteínas Proto-Oncogênicas/biossíntese , Proteína Supressora de Tumor p53/biossíntese , Neoplasias da Bexiga Urinária/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais , Carcinoma de Células de Transição/patologia , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Prognóstico , Proteínas Proto-Oncogênicas c-mdm2 , Neoplasias da Bexiga Urinária/patologiaRESUMO
The objective of the study was to investigate the effect of a long acting local anesthetic infiltration around nephrostomy tract on pain control after percutaneous nephrolithotomy. Forty-six patients with kidney stones of >2 cm undergoing single access subcostal percutaneous nephrolithotomy (PCNL) were enrolled in the study. Patients were randomized to levobupivacaine (Group I) and saline (Group II) infiltration groups. Group I patients (n = 23) had 75 mg/30 cc levobupivacaine infiltration around the access site after placement of nephrostomy catheter. Group II patients had 30 cc saline infiltration. Postoperatively the patients were given narcotics on demand. Pain scores were collected using a visual analog scale (VAS) at 2, 4, 6, 8, 12 and 24 h postoperatively. The VAS scores, time to analgesic demand, ambulation, and duration of nephrostomy tube were compared between two groups. The mean age was 44 and 45 years in group I and II patients. There were no significant differences between the two groups with regard to demographics, surgery or stone characteristics. Comparison of pain scores at all postoperative time points was not statistically significant between the two groups. Time to first analgesic demand and total narcotic analgesic dose per patient were 1.2 ± 1.05 and 4.04 ± 1.57 h; and 96 and 112 mg for group I and II patients (p = 0.009 and p = 0.41, respectively). Ambulation time and duration of nephrostomy tube were also similar. Infiltration of nephrostomy tract site with levobupivacaine does not have a superior effect compared to saline on postoperative pain control in patients undergoing PCNL.To prolong analgesia, the effect of intermittent tract injections or continuous infusion of local anesthetics for the postoperative maintenance of the local anesthetic effect seems worth to investigate in future studies.
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Anestésicos Locais/administração & dosagem , Bupivacaína/análogos & derivados , Nefrostomia Percutânea/métodos , Dor Pós-Operatória/tratamento farmacológico , Bupivacaína/administração & dosagem , Feminino , Humanos , Levobupivacaína , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND AND PURPOSE: Percutaneous nephrolithotomy (PCNL) is considered to be a clean-contaminated surgical procedure, and all patients are recommended to receive antibiotic prophylaxis before the operation to prevent septic events. The aim of the present study is to prospectively compare two different protocols of antibiotic prophylaxis in PCNL. PATIENTS AND METHODS: Seventy-three patients with preoperative sterile urine were randomized into single-dose or short-course antibiotic prophylaxis groups. Patients in the first group (n=36) were given only a single dose of ceftriaxone during induction of anesthesia, while the second group (n=37) were given an oral third-generation cephalosporin after ceftriaxone until nephrostomy catheter withdrawal. For each patient, urine samples that were taken during initial access into the collecting system, as well as some stone fragments, were sent for culture and sensitivity analysis. Moreover, urine samples of the patients were cultured preceding nephrostomy catheter removal. Occurrence of perioperative infection related events was compared in both groups. RESULTS: The demographic and treatment-related characteristics of both groups were similar. Peroperative urine samples revealed bacteriuria in one and two patients for the first and second groups, respectively. Fever of >38°C (P=0.52) developed in four (11.1%) patients in the first and six (16.2%) patients in the second group. Positive stone cultures developed in eight patients; of those, three (8.3%) were in the first and five (13.5%) were in the second group (P=0.47). The urine sent for culture on the nephrostomy catheter withdrawal day had positive results in three and two patients for the first and second groups (P=0.54). CONCLUSION: Both antibiotic prophylaxis methods were similar in terms of preventing septic complications. Therefore, we think that a single-dose antibiotic prophylaxis protocol may be safely recommended to patients undergoing PCNL.
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Antibioticoprofilaxia , Nefrostomia Percutânea/métodos , Adolescente , Adulto , Idoso , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Bactérias/efeitos dos fármacos , Bactérias/isolamento & purificação , Demografia , Feminino , Humanos , Infecções/tratamento farmacológico , Infecções/microbiologia , Cálculos Renais/tratamento farmacológico , Cálculos Renais/microbiologia , Cálculos Renais/cirurgia , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
PURPOSE: The aim of this study was to investigate the deleterious effects of shockwaves (SWs) using heat shock protein (HSP) 70 expression on obstructed kidneys with different obstruction periods. MATERIALS AND METHODS: Twenty-five rabbits were divided into two groups with 11 rabbits in each group. Both kidneys of the remaining three rabbits served as a sham group. All animals underwent right ureteral ligation using surgical clips. In group 1 (n = 6), 1500 SWs were applied to the obstructed kidney after 3 days of ligation, and the kidneys were removed on day 4. Group 1 control (n = 5) animals also underwent nephrectomy on day 4 without receiving SWs. Group 2 (n = 6) animals received the same dose of SWs after 6 days of ureteral ligation and were nephrectomized on day 7. Group 2 control (n = 5) animals did not receive SWs and were nephrectomized on day 7. Immunohistochemical staining was performed for HSP70 expression, and staining intensity was graded semiquantatively. RESULTS: HSP70 staining results were significantly lower in the sham group compared with results in the study groups. Immunostaining was significantly higher in the cortical collector tubuli in group 1 than group 1 control (P = 0.006). No significant difference was detected in group 2 compared with group 2 control. In the medullar cortical tubuli, HSP70 staining was significantly higher in group 1 than group 1 control (P = 0.03). It was also higher in group 2 than group 2 control (P = 0.04). The mean HSP70 glomerular staining scores were not statistically significant between each group. CONCLUSION: Application of SWs in the presence of obstruction has deleterious effects on the kidney tissue.
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Nefropatias/etiologia , Nefropatias/metabolismo , Litotripsia/efeitos adversos , Animais , Proteínas de Choque Térmico HSP70/metabolismo , Nefropatias/patologia , Glomérulos Renais/metabolismo , Glomérulos Renais/patologia , Túbulos Renais Coletores/metabolismo , Túbulos Renais Coletores/patologia , Coelhos , Fatores de TempoRESUMO
OBJECTIVES: To present the association of hypospadias with hypoplastic synpolydactyly and discuss the molecular genetic basis of these conditions. METHODS: A large synpolydactyly kindred first described in 1995 was reinvestigated. Affected and unaffected subjects were interviewed, and pedigrees of the most recent generations were constructed. The marriages of two affected individuals were identified. The siblings who were homozygous for the deformity were asked to attend our institution and underwent a detailed clinical evaluation. Genetic studies and mutation screening were performed using polymerase chain reaction on genomic DNA extracted from venous blood. RESULTS: Of the 245 members of the kindred, 125 individuals were affected. Of these 125 individuals, 12 were homozygotes (6 females and 6 males) with a mean age of 12 years. The remaining 113 individuals (57 females and 56 males) were heterozygotes showing milder limb deformities. No sex-related phenotypic difference was found in the extremity findings, but all the males with a homozygote pattern had hypospadias. Three had distal penile, two had mid-shaft, and one had penoscrotal hypospadias. Of the affected 56 heterozygote males, 22 were also noted to have distal hypospadias in various forms. Neither the heterozygote nor the homozygote females had any genital anomalies. The laboratory tests and karyotype profiles of these individuals were normal. Mutation screening of the homozygote subjects revealed a polyalanine duplication band of nine additional alanine residues at the human HOXD13 gene. CONCLUSIONS: These findings strongly suggest that specific mutations in HOXD13 gene may cause both hypoplastic synpolydactyly and hypospadias.
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Anormalidades Múltiplas/genética , Dedos/anormalidades , Proteínas de Homeodomínio/genética , Hipospadia/genética , Mutação , Dedos do Pé/anormalidades , Fatores de Transcrição/genética , Criança , Feminino , Humanos , Masculino , Linhagem , SíndromeRESUMO
OBJECTIVE: Prostatic transitional cell carcinoma (TCC) may involve urethral mucosa, ducts, acini and stroma of the gland. In this study, we evaluated the risk factors for mucosal prostatic urethral (PU) involvement in superficial TCC of the bladder. METHODS: The data of 340 consecutive male patients with the diagnosis of primary superficial TCC of the bladder who were treated at our institution were reviewed. Median age of the patients was 64 years and median follow-up was 66 months. The impact of pathological stage, grade, tumour multiplicity and presence of carcinoma in situ (CIS) on mucosal PU involvement were evaluated. RESULTS: Twenty one patients (6.2%) had mucosal involvement of the PU and concomitant multifocal TCC of the bladder. Of those, 12 patients (3.5%) had macroscopic mucosal involvement of the PU while the other 9 patients (2.7%) had microscopic tumour. Increased pathological stage, grade and tumour multiplicity were found to be risk factors for mucosal PU involvement in patients with superficial bladder cancer. Multivariate analysis showed that only the tumour multiplicity was found to be an independent risk factor for mucosal PU involvement by TCC (p=0.001). CONCLUSIONS: The incidence of mucosal PU involvement increases as the stage, grade and number of tumours increase in patients with superficial TCC of the bladder. We recommend PU sampling particularly in patients with multiple bladder tumours which may have an impact on further management of these patients.
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Carcinoma de Células de Transição/patologia , Neoplasias da Próstata/patologia , Neoplasias Uretrais/patologia , Neoplasias da Bexiga Urinária/patologia , Urotélio/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas , Estudos Retrospectivos , Fatores de RiscoRESUMO
OBJECTIVES: The role of estrogens in human bladder cancer still remains to be resolved. This study was undertaken to determine the estrogen receptor (ER) expression status and to elucidate the prognostic significance of ER in superficial transitional cell carcinoma (TCC) of the human bladder. METHODS: Tumor tissue blocks which were obtained by transurethral resection (TUR) from 121 patients with superficial TCC and 30 control subjects were investigated. Median follow-up was 40 months. The expression of nuclear ER was evaluated by immunohistochemistry using avidin-biotin-peroxidase method and a monoclonal ER antibody. ER staining intensity in samples was assessed semi-quantitatively. Staining characteristics were compared with the clinico-pathological results. RESULTS: ERs were detected in 12.4% of the superficial TCC patients and in 10% of the controls (P = 0.73). No association was found between ER immuno-reactive score and patients' age, sex, tumor multiplicity or tumor size. An association between the ER staining intensity and higher tumor grade was observed (P = 0.01). Grades I, II and III tumors showed 10.6, 8.7 and 44.4% staining, respectively. Survival was not affected by ER expression. In multivariate analysis ER expression was not an independent prognostic factor. CONCLUSION: Superficial TCC of the bladder shows low ER expression and it appears that ERs do not have any direct role on the prognosis of patients with superficial TCC.
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Carcinoma de Células de Transição/metabolismo , Receptores de Estrogênio/metabolismo , Neoplasias da Bexiga Urinária/metabolismo , Carcinoma de Células de Transição/mortalidade , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Neoplasias da Bexiga Urinária/mortalidadeRESUMO
Mucosa-associated lymphoid tissue-type lymphomas have recently been recognized as a distinctive form of B-cell malignant lymphoma. In contrast to other types of low-grade lymphomas, these tumors have a tendency to be localized at diagnosis and to be curable with local therapy. We report an unusual case of primary localized low-grade lymphoma of mucosa-associated lymphoid tissue arising in the kidney. The patient underwent radical nephrectomy and was free of disease at 28 months of follow-up without additional treatment. Once properly staged and classified, lymphoma of mucosa-associated lymphoid tissue involving the kidney can be managed by radical nephrectomy and follow-up.
Assuntos
Neoplasias Renais/cirurgia , Linfoma de Zona Marginal Tipo Células B/cirurgia , Adulto , Diagnóstico Diferencial , Humanos , Rim/patologia , Neoplasias Renais/diagnóstico , Neoplasias Renais/patologia , Linfoma de Zona Marginal Tipo Células B/diagnóstico , Linfoma de Zona Marginal Tipo Células B/patologia , Imageamento por Ressonância Magnética , Masculino , NefrectomiaRESUMO
OBJECTIVE: Treatment of patients with mucosal prostatic urethral transitional cell carcinoma (TCC) is controversial. In this study, we evaluated the outcome of patients with mucosal prostatic urethral TCC who were managed conservatively. METHODS: The data of 290 consecutive male patients with superficial TCC of the bladder who were treated at our institution were reviewed. Median age was 63 years and median follow-up was 63 months. Initially, all patients with mucosal PU involvement without evidence of ductal and/or stromal involvement underwent intravesical BCG or Epirubicin therapy. RESULTS: Nineteen patients (6.6%) had mucosal involvement of the prostatic urethra (PU) and concomitant multifocal TCC of the bladder. Of those, 12 patients (12/19, 4.2%) had macroscopic mucosal involvement of the PU, while the other 7 patients (7/19, 2.4%) had microscopic PU tumor. Seven of 12 patients who were treated with BCG and 2 of 7 patients who were treated with Epirubicin achieved complete response. Progression occurred in 3 patients who received BCG and no patients progressed in the Epirubicin group. CONCLUSIONS: Prostatic urethral sampling should be considered necessary in intermediate and high risk patients with superficial TCC of the bladder. Intravesical therapy, especially with BCG seems to be an effective treatment alternative in the management of mucosal PU involvement.