Retrospective Analysis of Prognostic Factors in Pediatric Patients with Adrenocortical Tumor from Unique Tertiary Center with Long-Term Follow-Up.

Pediatric adrenocortical tumors (PACTs) represent rare causes of malignancies. However, the south/southeast regions of Brazil are known to have a high incidence of PACTs because of the founder effect associated with a germline pathogenic variant of tumor suppressor gene TP53. We aimed to retrospectively analyze the types of variables among hormone production, radiological imaging, tumor staging, histological and genetic features that were associated with the occurrence of malignancy in 95 patients (71% females) with PACTs from a unique center. The worst prognosis was associated with those aged > 3 years (p < 0.05), high serum levels of 11-desoxicortisol (p < 0.001), tumor weight ≥ 200 g (p < 0.001), tumor size ≥ 5 cm (p < 0.05), Weiss score ≥ 5 (p < 0.05), Wieneke index ≥ 3 (p < 0.001) and Ki67 ≥ 15% (p < 0.05). Furthermore, patients with MacFarlane stage IV had an overall survival rate almost two times shorter than patients with other stages (p < 0.001). Additionally, the subtractions of BUB1B-PINK1 (<6.95) expression (p < 0.05) and IGF-IR overexpression (p = 0.0001) were associated with malignant behavior. These results helped identify patients who are likely to have an aggressive course; further multicenter prospective studies are required to confirm our results. In conclusion, PACTs with these patterns of prognostic factors could be treated using an adjuvant approach that may improve the overall survival in such patients.

Cost Effectiveness and Impact in Quality of Care of a Pediatric Multidisciplinary Stone Clinic.

Herein, we assess the cost-effectiveness of a multidisciplinary clinic for children with urinary stones. The clinic's primary goals were to decrease unnecessary visits, imaging, and costs while optimizing the quality of care. METHODS: Between October 2012 and January 2016, children with complex stone disease, previously treated in urology and/or nephrology clinics, were seen at a triannual pediatric combined stone clinic. We compared the number and cost of ultrasounds, emergency room (ER) visits, and stone surgeries performed before and after each patient's initial evaluation. All patients received satisfaction surveys. RESULTS: Among the 79 patients, 27 were seen at least twice in the combined clinic and followed multiple times in either urology or nephrology clinics. The mean number of ER visits per patient per year significantly decreased from 0.29 ± 0.36 to 0.10 ± 0.15 (P = 0.002). The mean cost of ER visits went from CAD$ 23.44 ± 28.80 to CAD$ 4.14 ± 12.18 (P = 0.002). Likewise, the mean annual number and cost of stone-related surgeries significantly decreased [(0.38 ± 0.63 versus 0.20 ± 0.32 after the MSC started (P = 0.026) and mean annual cost of surgeries went from CAD$ 182.97 ± 301.49 to CAD$ 41.59 ± 110.97 (P = 0.022)]. Among the survey responses returned, 75% of families believed the clinic was time-saving. CONCLUSIONS: Despite a small sample size, the number of ER visits and stone-related operations significantly decreased after the initial combined clinic intervention. Longer-term data will hopefully confirm if the positive findings continue.

Modern management of and update on prune belly syndrome.

Prune belly syndrome (PBS) is characterized by the triad of abdominal flaccidity, a variable degree of urinary tract involvement and cryptorchidism. Most cases of PBS are sporadic and have a normal karyotype, with 95% patients being male. In the last decade, mutations in known genes that regulate embryonic genitourinary myogenesis have been identified and with increasing knowledge of these critical genes involved in bladder maldevelopment, advances can be made in genetic counseling. A multidisciplinary approach is necessary and individualization of care is recommended according to phenotypic severity. Some patients require abdominal and urinary tract reconstruction while others require as little as bilateral orchiopexies. Major treatment objectives are: preservation of renal function and upper urinary tract; polyuria management; adequate bladder emptying; improvement of corporal image and quality of life; preservation of fertility and adequate sexual function. Long-term surveillance of the urinary tract is essential up to adulthood, because functional dynamics can change over time.

Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas.

OBJECTIVE: Few and conflicting reports have characterized the genetics of paediatric pheochromocytomas and paragangliomas (PPGLs). This study aimed to investigate the clinical and genetic features of Brazilian children with PPGL. PATIENTS AND METHODS: This study included 25 children (52% girls) with PPGL. The median age at diagnosis was 15 years (4-19). The median time of follow-up was 145 months. The genetic investigation was performed by Sanger DNA sequencing, multiplex ligation-dependent probe amplification and/or target next-generation sequencing panel. RESULTS: Of the 25 children with PPGL, 11 (44%), 4 (16%), 2 (8%), 1 (4%) and 7 (28%) had germline VHL pathogenic variants, SDHB, SDHD, RET and negative genetic investigation, respectively. Children with germline VHL missense pathogenic variants were younger than those with SDHB or SDHD genetic defects [median (range), 12 (4-16) vs. 15.5 (14-19) years; P = .027]. Moreover, 10 of 11 cases with VHL pathogenic variants had bilateral pheochromocytoma (six asynchronous and four synchronous). All children with germline SDHB pathogenic variants presented with abdominal paraganglioma (one of them malignant). The two cases with SDHD pathogenic variants presented with head and neck paraganglioma. Among the cases without a genetic diagnosis, 6 and 2 had pheochromocytoma and paraganglioma, respectively. Furthermore, metastatic PPGL was diagnosed in four (16%) of 25 PPGL. CONCLUSIONS: Most of the paediatric PPGL were hereditary and multifocal. The majority of the affected genes belong to pseudohypoxic cluster 1, with VHL being the most frequently mutated. Therefore, our findings impact surgical management and surveillance of children with PPGL.

Recent advances in the management of Wilms' tumor.

The objective of this article is to present an overview of recent trends in the management of Wilms' tumor. With improved survival rates in the past few decades, critical long-term adverse therapy effects (such as renal insufficiency, secondary malignancies, and heart failure) and prevention measures (i.e. nephron-sparing surgery and minimizing the use of radiotherapy) have gained worldwide attention. Specific disease biomarkers that could help stratify high-risk from low-risk patients, and therefore fine-tune management, are in great demand. Ultimately, we aim to enhance clinical outcomes and maintain or improve current survival rates while avoiding undesirable treatment side effects and minimizing the exposure and intensity of chemotherapy and radiotherapy.

Bladder and bowel dysfunction in children: An update on the diagnosis and treatment of a common, but underdiagnosed pediatric problem.

Bladder and bowel dysfunction (BBD) describes a spectrum of lower urinary symptoms (LUTS) accompanied by fecal elimination issues that manifest primarily by constipation and/or encopresis. This increasingly common entity is a potential cause of significant physical and psychosocial burden for children and families. BBD is commonly associated with vesicoureteral reflux (VUR) and recurrent urinary tract infections (UTIs), which at its extreme may lead to renal scarring and kidney failure. Additionally, BBD is frequently seen in children diagnosed with behavioural and neuropsychiatric disorders such as attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Patients with concomitant BBD and neuropsychiatric disorders have less favourable treatment outcomes. Early diagnosis and treatment of BBD are critical to avoid secondary comorbidities that can adversely impact children's kidney and bladder function, and psychosocial well-being. The majority of patients will improve with urotherapy, adequate fluid intake, and constipation treatment. Pharmacological treatment must only be considered if no improvement occurs after intensive adherence to at least six months of urotherapy ± biofeedback and constipation treatment. Anticholinergics remain the mainstay of medical treatment. Selective alpha-blockers appear to be effective for improving bladder emptying in children with non-neurogenic detrusor overactivity (DO), incontinence, recurrent UTIs, and increased post-void residual (PVR) urine volumes. Alpha-1 blockers can also be used in combination with anticholinergics when overactive bladder (OAB) coexists with functional bladder outlet obstruction. Minimally invasive treatment with onabotulinumtoxinA bladder injections, and recently neurostimulation, are promising alternatives for the management of BBD refractory to behavioural and pharmacological treatment. In this review, we discuss clinical presentation, diagnostic approach, and indications for behavioural, pharmacological, and surgical treatment of BBD in children based on a thorough literature review. Expert opinion will be used when scientific evidence is unavailable.

The role of urinary KIM-1, NGAL, CA19-9 and ß2-microglobulin in the assessment of ureteropelvic junction obstruction in adults.

PURPOSE: The objective of this study is to evaluate the diagnostic properties of urinary biomarkers in adults with ureteropelvic junction obstruction: KIM-1, NGAL, CA19-9, and ß2-microglobulin. We also assessed urinary biomarker concentrations following pyeloplasty. MATERIAL AND METHODS: We prospectively studied adults from December 2013 to February 2015. We included 47 patients with a mean age of 38.6 ± 12.7 years. Each patient provided four samples of voided urine for biomarker measurement, one at pre-operative consultation and the others at 1, 3, and 6 months of post-operative follow-up. The control group consisted of 40 healthy individuals with no hydronephrosis on ultrasound evaluation. RESULTS: KIM-1 had an area under the curve of 0.79 (95% CI 0.70-0.89), NGAL 0.71 (95% CI 0.61-0.83), CA19-9 0.70 (95% CI 0.60-0.81), and ß2-microgloblin 0.61 (95% CI 0.50-0.73). KIM-1 was the most sensitive marker with a cut-off of 170.4 pg/mg creatinine (sensitivity 91.4%, specificity 59.1%), whereas CA19-9 was the most specific with a cut-off of 51.3 U/mg creatinine (sensitivity 48.9%, specificity 88.0%). Urinary concentrations of biomarkers decreased after pyeloplasty. CONCLUSIONS: The evaluation of urinary biomarkers is useful in adults undergoing pyeloplasty. KIM-1, NGAL, and CA19-9 were elevated and significantly decreased after surgery.

Case Report: Prune perineum syndrome: a rare case with an unfavourable outcome.

Prune perineum syndrome (PPS) is a rare anomaly, with only two previous case reports, both dying in the perinatal period. We report the first case of PPS that reached childhood. The patient presented with a hypoplastic genitalia and bilateral cryptorchidism. There was no evidence of an anal orifice. A significant prune-like mass was observed, extending from the perineum to both gluteal regions and to a cephalic mid-line bony prominence, with a 1cm central orifice that discharged urine. MRI confirmed the previous findings and revealed a right crossed ectopic kidney, intestinal malrotation, a hypoplastic infrarenal inferior vena cava and a hypoplastic right iliac artery. Endoscopic evaluation through the orifice revealed a cavity lined by urothelial mucosa, with a small communication to the anterior urethra in its anterior wall. A staged reconstruction was planned, with a first-step urinary diversion through a continent abdominal reservoir associated to bilateral orchiopexy. He was discharged from the hospital three weeks later under intermittent catheterization. The next surgical step would be the resection of the perineal mass and its cavity associated to the removal of the prominent sacrococcygeal bones. Unfortunately, four months after the first surgery the patient developed an acute abdomen and was submitted to a laparotomy that revealed a necrotic ileal segment secondary to obstructive adherences. He developed severe malabsorption followed by septic shock, dying five weeks after the procedure. Due to the lack of literature, there is no consensus for the management of these cases. The wish of the family for a better quality of life and social acceptance, compelled us to perform a urinary diversion, to be followed by a plastic and orthopedic reconstruction. Despite the successful initial result, the patient developed a late abdominal obstruction that was misdiagnosed, precipitating his untimely death five months after the first procedure.

Recent Advances in Urinary Tract Reconstruction for Neuropathic Bladder in Children.

Neuropathic bladder usually causes several limitations to patients' quality of life, including urinary incontinence, recurrent urinary tract infections, and upper urinary tract damage. Its management has significantly changed over the last few years. The aim of our paper is to address some salient features of recent literature dealing with reconstructive procedures in pediatric and adolescent patients with lower urinary tract dysfunction.

Neurological status predicts response to alpha-blockers in men with voiding dysfunction and Parkinson's disease.

OBJECTIVES: To evaluate predictors of the response to doxazosin, a selective alpha-adrenoceptor antagonist, when used for the treatment of lower urinary tract symptoms in men with Parkinson's disease. METHODS: In a prospective study, 33 consecutive men (mean age 59.2 ± 7.0 years) with Parkinson's disease and lower urinary tract symptoms were evaluated. Neurological dysfunction was assessed with the Unified Parkinson's Disease Rating Scale. Urological assessment was performed at baseline and after 12 weeks of treatment with 4 mg/day of extended-release doxazosin, including symptom evaluation with the International Continence Society male short-form questionnaire, an assessment of the impact of lower urinary tract symptoms on quality of life and urodynamics. Clinical and urodynamic predictors of response were specifically evaluated. RESULTS: Compared with the score at baseline, the total International Continence Society male short-form score was reduced after doxazosin administration, from 17.4 ± 7.5 to 11.1 ± 6.9 (p<0.001). The impact of lower urinary tract symptoms on quality of life was also significantly reduced, from 1.8 ± 1.1 to 1.0 ± 1.0 (p<0.001) and the maximum urinary flow varied from 9.3 ± 4.4 to 11.2 ± 4.6 ml/s (p=0.025). The severity of neurological impairment was the only predictor of the clinical response. Additionally, patients with a Unified Parkinson's Disease Rating Scale score lower than 70 had a significantly higher chance of clinical improvement with doxazosin treatment than those with higher Unified Parkinson's Disease Rating Scale scores did (RR=3.10, 95% CI=[1.15 to 5.37], p=0.011). CONCLUSIONS: Doxazosin resulted in the improvement of lower urinary tract symptoms and the maximum flow rate and was well tolerated in men with Parkinson's disease. The response to treatment is dependent on the severity of neurological disability.

Neurological status predicts response to alpha-blockers in men with voiding dysfunction and Parkinson's disease

OBJECTIVES: To evaluate predictors of the response to doxazosin, a selective alpha-adrenoceptor antagonist, when used for the treatment of lower urinary tract symptoms in men with Parkinson's disease. METHODS: In a prospective study, 33 consecutive men (mean age 59.2±7.0 years) with Parkinson's disease and lower urinary tract symptoms were evaluated. Neurological dysfunction was assessed with the Unified Parkinson's Disease Rating Scale. Urological assessment was performed at baseline and after 12 weeks of treatment with 4 mg/day of extended-release doxazosin, including symptom evaluation with the International Continence Society male short-form questionnaire, an assessment of the impact of lower urinary tract symptoms on quality of life and urodynamics. Clinical and urodynamic predictors of response were specifically evaluated. RESULTS: Compared with the score at baseline, the total International Continence Society male short-form score was reduced after doxazosin administration, from 17.4±7.5 to 11.1±6.9 (p<0.001). The impact of lower urinary tract symptoms on quality of life was also significantly reduced, from 1.8±1.1 to 1.0±1.0 (p<0.001) and the maximum urinary flow varied from 9.3±4.4 to 11.2±4.6 ml/s (p = 0.025). The severity of neurological impairment ...

Transperitoneal versus extraperitoneal laparoscopic radical prostatectomy during the learning curve: does the surgical approach affect the complication rate?

PURPOSE: To compare the perioperative complication rate obtained with the transperitoneal laparoscopic radical prostatectomy (TLRP) and with the extraperitoneal LRP (ELRP) during the learning curve (LC). MATERIALS AND METHODS: Data of the initial 40 TLRP (Group 1) were retrospectively compared with the initial 40 ELRP (Group 2). Each Group of patients was operated by two different surgeons. RESULTS: The overall surgical time (175 min x 267.6 min; p < 0.001) and estimated blood loss (177.5 mL x 292.4 mL; p < 0.001) were statistically better in the Group 1. Two intraoperative complications were observed in Group 1 (5%) represented by one case of bleeding and one case of rectal injury, whereas four complications (10%) were observed in Group 2, represented by two cases of bleeding, one bladder and one rectal injuries (p = 0.675). Open conversion occurred once in each Group (2.5%). Overall postoperative complications were similar (52.5% x 35%; p = 0.365). Major early postoperative complications occurred in three and in one case in Group 1 and 2, respectively. Group 1 had two peritonitis (fecal and urinary), leading to one death in this group. CONCLUSIONS: No statistical differences in overall complication rates were observed. The transperitoneal approach presented more serious complications during the early postoperative time and this fact is attributed to the potential chance of intraperitoneal peritonitis not observed with the extraperitoneal route.

Transperitoneal versus extraperitoneal laparoscopic radical prostatectomy during the learning curve: does the surgical approach affect the complication rate?

Purpose: To compare the perioperative complication rate obtained with the transperitoneal laparoscopic radical prostatectomy (TLRP) and with the extraperitoneal LRP (ELRP) during the learning curve (LC). Materials and Methods: Data of the initial 40 TLRP (Group 1) were retrospectively compared with the initial 40 ELRP (Group 2). Each Group of patients was operated by two different surgeons. Results: The overall surgical time (175 min x 267.6 min; p < 0.001) and estimated blood loss (177.5 mL x 292.4 mL; p < 0.001) were statistically better in the Group 1. Two intraoperative complications were observed in Group 1 (5 percent) represented by one case of bleeding and one case of rectal injury, whereas four complications (10 percent) were observed in Group 2, represented by two cases of bleeding, one bladder and one rectal injuries (p = 0.675). Open conversion occurred once in each Group (2.5 percent). Overall postoperative complications were similar (52.5 percent x 35 percent; p = 0.365). Major early postoperative complications occurred in three and in one case in Group 1 and 2, respectively. Group 1 had two peritonitis (fecal and urinary), leading to one death in this group. Conclusions: No statistical differences in overall complication rates were observed. The transperitoneal approach presented more serious complications during the early postoperative time and this fact is attributed to the potential chance of intraperitoneal peritonitis not observed with the extraperitoneal route.

Ergonomic aspects related to surgeon position in laparoscopic radical prostatectomy.

PURPOSE: The aim is to evaluate the level of inclination of the surgeon's spinal column (ISSC) while performing laparoscopic radical prostatectomy (LRP) when using one trocar on each side of the patient abdomen ("torero" position) in two scenarios: With and without a thin head supporter adapted to the table. MATERIALS AND METHODS: Based on trigonometric principles, we elaborated a formula to calculate the ISSC for a determined surgeon and surgical table while performing LRP in the torero position. The parameters considered were the width of the surgical table (m), the distance between the surgeon's anterior superior iliac spines (q), and the distance from the central point between the surgeon's anterior superior iliac spines to the surgeon's head (h). We used the formula alpha = 90 degree-cos(-1)(b/h) (where b = q/2 + m/2) in an Excel sheet to calculate the angle of inclination of the surgeon's spinal column. We applied the measures of 12 surgeons with different biotypes of our staff to calculate the ISSC with and without the thin head supporter. RESULTS: The use of a thin head supporter reduced the mean ISCC in the torero position from 36.1 +/- 3.73 degrees (range 31.3 to 49.8 degrees) to 22.1 +/- 4.9 degrees (range 18.7 to 32.9 degrees), which corresponds to a reduction of 38.8% in the mean angle of inclination. This difference was statistically significant (P < 0.001). CONCLUSION: The use of a thin head supporter adapted to the surgical table objectively reduces lateral inclination of the surgeon's spinal column in the torero position, making LRP a more comfortable procedure.

Voiding dysfunction in patients with Parkinson's disease: impact of neurological impairment and clinical parameters.

AIMS: We assessed the lower urinary tract symptoms (LUTS) of patients with Parkinson's disease (PD) and their association with different clinical parameters. METHODS: We prospectively evaluated 110 patients (84 men), with a mean age of 61.8 +/- 9.6 years. Mean duration of the disease was 12.3 +/- 7.2 years. Neurological impairment was assessed by the Hoehn-Yahr and the Unified Parkinson Disease Rating scales. LUTS were assessed by the International Continence Society questionnaire. We evaluated the impact of age, PD duration, neurological impairment, gender, and use of anti-Parkinsonian drugs on the voiding function. RESULTS: On multivariate analysis, voiding dysfunction increased with the neurological impairment, but not with patient's age or disease duration. Quality of life (QOL) was affected by the severity of LUTS, and the symptoms with the worst impact were frequency and nocturia. Sixty-three (57.2%) patients were symptomatic. They did not differ with the asymptomatic as to age and disease duration, but had more severe neurological impairment. No impact on LUTS was associated with the use of levodopa, anticholinergics, and dopamine receptor agonists. Men and women were similarly affected by urinary symptoms. CONCLUSIONS: The severity of the neurological disease is the only predictive factor for the occurrence of voiding dysfunction, which affects men and women alike.

Paratesticular leiomyosarcoma treated by enucleation.

Spermatic cord leiomyosarcomas are rare tumors and standard treatment consists of radical orchiectomy and high cord ligation. We report a case of a paratesticular leiomyosarcoma successfully treated by enucleation. A 22-year-old man presented with a 6-months history of inguinal pain. Physical examination revealed a right paratesticular nodule about 0.5 cm in diameter. Inguinal exploration and nodule biopsy were performed. It was thought to be a benign epididymal nodule on a quick section and the tumor was enucleated and sent for paraffin section. Histology and immunohistochemistry were compatible with leiomyosarcoma. The patient was advised to undergo radical orchiectomy with high cord ligation. However, he refused surgery. An alternative approach with clinical, biochemical and radiological follow-up was adopted. The patient has been followed up for thirteen years and shows no evidence of disease.

Paratesticular leiomyosarcoma treated by enucleation

Spermatic cord leiomyosarcomas are rare tumors and standard treatment consists of radical orchiectomy and high cord ligation. We report a case of a paratesticular leiomyosarcoma successfully treated by enucleation. A 22-year-old man presented with a 6-months history of inguinal pain. Physical examination revealed a right paratesticular nodule about 0.5 cm in diameter. Inguinal exploration and nodule biopsy were performed. It was thought to be a benign epididymal nodule on a quick section and the tumor was enucleated and sent for paraffin section. Histology and immunohistochemistry were compatible with leiomyosarcoma. The patient was advised to undergo radical orchiectomy with high cord ligation. However, he refused surgery. An alternative approach with clinical, biochemical and radiological follow-up was adopted. The patient has been followed up for thirteen years and shows no evidence of disease.

Chronic penile strangulation

Chronic penile strangulation is exceedingly rare with only 5 cases previously reported. We report an additional case of progressive penile lymphedema due to chronic intermittent strangulation caused by a rubber band applied to the penile base for 6 years. A 49-year-old man presented incapacity to exteriorize the glans penis. For erotic purposes, he had been using a rubber-enlarging band placed in the penile base for 6 years. With chronic use, he noticed that his penis swelled. Physical examination revealed lymphedema of the penis, phimosis and a stricture in the penile base. The patient was submitted to circumcision and the lymphedema remained stable 10 months postoperatively. Chronic penile incarceration usually causes penile lymphedema and urinary disturbance. Treatment consists of removal of foreign devices and surgical treatment of lymphedema.

Intramural leiomyomas of the bladder in asymptomatic men

Bladder leiomyomas are rare benign mesenchymal tumors, which account for less than 0.43 percent of all bladder tumors with approximately 200 cases described in the literature. These tumors may be classified into 3 different locations: endovesical, intramural and extravesical. Endovesical is the most common form, accounting for 63-86 percent of the cases, while intramural occurs in 3-7 percent and extravesical in 11-30 percent. The intramural form, especially small tumors, may not produce symptoms hardening detection. We report two cases of intramural bladder leiomyomas in asymptomatic men observed incidentally by transabdominal ultrasonography during the follow-up of benign prostatic hyperplasia. We discuss the diagnosis and management of these lesions.

Intramural leiomyomas of the bladder in asymptomatic men.

Bladder leiomyomas are rare benign mesenchymal tumors, which account for less than 0.43% of all bladder tumors with approximately 200 cases described in the literature. These tumors may be classified into 3 different locations: endovesical, intramural and extravesical. Endovesical is the most common form, accounting for 63-86% of the cases, while intramural occurs in 3-7% and extravesical in 11-30%. The intramural form, especially small tumors, may not produce symptoms hardening detection. We report two cases of intramural bladder leiomyomas in asymptomatic men observed incidentally by transabdominal ultrasonography during the follow-up of benign prostatic hyperplasia. We discuss the diagnosis and management of these lesions.