An integrated practical placement programme for students with disability: A pilot study.

Supported work internship programmes for young adults with disability are an evidence-based model, leading to greater employment outcomes. This mixed methods pilot study evaluated the experiences of students, supervisors and a project coordinator, who participated in an Integrated Practical Placement (IPP) programme for students with disability in Australia. Intervention students (n = 10) completed 3, 9-week rotations, and accessed personal placement support and employment coaches. Comparison students (n = 38) completed 3, 2-week placements without additional support. Intervention students perceived significantly greater initial changes in work skills (p < 0.01) and work readiness (p < 0.05). Intervention students reported development of communication and self-organisational skills and stressed the value of staff support. Post programme 70% of intervention students gained employment, compared with 15.4% of comparison students. The findings suggest an evidence-based supported employment programme emphasising personalised assessment and training, could provide individuals with disability the required skills to enable successful employment.

Minimally invasive surgery for unilateral Wilms tumors: Multicenter retrospective analysis of 50 transperitoneal laparoscopic total nephrectomies.

PURPOSE: To evaluate feasibility and outcomes of minimally invasive surgery (MIS) in Wilms tumor (WT). METHODS: International multicenter review of MIS total nephrectomies for WT between 2006 and 2018. Medical records of confirmed WT were retrospectively assessed for demographic, imaging, treatment, pathology, and oncological outcome data. RESULTS: Fifty patients, with a median age of 38 months (6-181), were included in 10 centers. All patients received neoadjuvant chemotherapy, as per SIOP protocol. Median tumor volume post-chemotherapy was 673 mL (18-3331), 16 tumors crossed the lateral border of the spine, and three crossed the midline. Six patients with tumors that crossed the lateral border of the spine (tumor volumes 1560 mL [299-2480]) were converted to an open approach. There was no intraoperative tumor rupture. Overall, MIS was completed in 19% of the 195 nephrectomies for WT presenting during the study period. Tumor was stage I in 29, II in 16, and III in 5, and histology was reported as low in three, intermediate in 42, and high risk in five. Three patients had positive tumor margins. After a median follow-up of 34 months (2-138), there were two local recurrences (both stage I, intermediate risk, 7 and 9 months after surgery) and one metastatic relapse (stage III, high risk, four months after surgery). The three-year event-free survival was 94%. CONCLUSION: MIS is feasible in 20% of WT, with oncological outcomes comparable with open surgery, no intraoperative rupture, and a low rate of local relapse. Ongoing surveillance is, however, needed to evaluate this technique as it becomes widespread.

Surface modifications of optical fiber ferrule for diffusive optical-thermal transport.

The current study aimed to develop surface modifications of a capillary ferrule to avoid misalignment-related thermal damage in the fiber connector and the eventual fiber failure during high-power laser lithotripsy. Numerical analysis showed that the modified surface diffused leaking rays (high-order modes) from the misalignment. The light diffusion subsequently confined absorption-induced heat accumulation to the stainless steel connector tip (used as heat sink). Light-offset experiments validated minimal transient and steady-state heating of the modified connector surface with no thermal damage in the connector due to diffusive optical-thermal transport. The ferrule surface modifications may prevent fiber failure during the lithotripsy.

Foreskin reconstruction vs circumcision in distal hypospadias.

PURPOSE: The purpose of the study was to determine if there were differences in the complication rates between foreskin reconstruction (FR) and circumcision (CIRC) in distal hypospadias repairs. The primary outcomes were urethrocutaneous fistula (UF) and dehiscence. METHODS: The data of distal hypospadias operated between 2005 and 2013 were retrospectively reviewed. The inclusion criteria were any distal hypospadias repair that required an urethroplasty. The exclusion criteria were follow-up <1 year, redo procedures, chordee greater than 20°, and incomplete data. Univariate and multivariate analysis was performed on the results. RESULTS: 213 patients were included (95 FR and 118 CIRC). The 2 groups were comparable for age at surgery 19.32 months in FR and 14.25 months in CIRC. Mathieu repair was more common in FR (47/95-49.47%) than in CIRC (45/118-38.14%). The total subsequent procedures required were 23 in FR and 57 in CIRC. The incidence of UF was 6.3% (6/95) in FR and 27.1% (32/118) in CIRC (p < 0.001, OR 5.52, 95% CI 2.2-13.9). Complete dehiscence rates were 3.16% (3/95) FR vs 11.02% (13/118) for CIRC (p = 0.037, OR 3.8, 95% CI 1.05-13.74). The incidence of patients requiring reoperation was 18.9% (18/95) in FR versus 45.8% (54/118) in CIRC (p < 0.001, OR 3.61, 95% CI 1.93-6.76). CONCLUSIONS: Foreskin Reconstruction conferred a significantly lower rate of complications, particularly the UF rate, dehiscence rate, and number of patients that required reoperation. Our rate of complications in the CIRC group is much higher than other published data.

Complications following circumcision: Presentations to the emergency department.

BACKGROUND: Circumcision is the most common surgical procedure performed on boys in Australia. Patient presentations to the emergency department (ED) following circumcision are common; however, no Australian research has investigated acute care presentations. OBJECTIVES: To identify reasons for presentation to the ED after circumcision and determine whether the setting (community vs. hospital) in which the procedure had been performed has any bearing on the sequelae seen. METHODS: Retrospective chart review of children presenting with circumcision related problems to the Royal Children's Hospital, Melbourne, Australia, between 2012 and 2014. Descriptive and χ(2) analysis included sequelae of community- versus hospital-performed procedures. RESULTS: Over a 29-month period, we identified 167 children with a circumcision-related ED presentation. Mean age was 3 years. A percentage of 54.5 had been performed for non-medical, 29.9% for medical reasons and 14.4% for reasons unknown. When location was known (n = 152), 60.5% were performed in the community and 39.5% in hospital. Reasons for presentation were: bleeding (53.9%), pain (38.3%), swelling (37.1%), redness (25.7%), decreased urine output (13.8%), fever (7.2%) and pus (6%). 29.9% were diagnosed as normal healing post circumcision. Patients were admitted in 39.1% versus 15% (P = 0.001) and re-operated in 18.5% versus 1.7% (P = 0.001) after community- versus hospital-operated circumcisions. CONCLUSIONS: A range of reasons cause patients to seek help in the ED following a circumcision. Parents would have profited from better explanation of post-circumcision appearance of the penis. ED presentations after community-performed procedures required more re-operations than after hospital-performed circumcisions.

Stone ablation efficacy: a comparison of a thulium fibre laser and two pulse-modulated holmium:YAG lasers.

We present preliminary stone ablation rate results from an automated bench model using two pulse-modulated Ho:YAG lasers and a thulium fibre laser (TFL) in contact and non-contact modes. Ablation rate was assessed using automated apparatus that moved the laser fibre across flat BegoStone phantoms at a constant stone-to-fibre working distance (WD). Pre-soaked and unsoaked stones were used. A range of powers (20-60 W) was tested at WD of up to 3 mm. In pseudocontact, the prototype Ho:YAG laser produced higher ablation than the reference Ho:YAG laser at all powers tested (p < 0.002), and higher ablation than TFL at 20 W and 40 W (p < 0.001). At distance, ablation rates for the prototype were higher than the reference Ho:YAG laser using pre-soaked stones at WD up to 3 mm (p < 0.001). TFL required the laser fibre to be moved faster (5-12 mm/s) for optimal ablation, compared to 1-3 mm/s for the Ho:YAG lasers. TFL was unable to demonstrate ablation with unsoaked BegoStone. At any given power, similar ablation rates were achievable with all three lasers under optimised conditions. Novel pulse-modulation modes demonstrated higher ablation rates than the reference Ho:YAG laser's pulse-modulation at a range of powers and WDs. Ablation rate of Ho:YAG lasers decreased linearly with WD whereas the ablation rate of TFL decreased rapidly beyond 2 mm WD. TFL was more affected by scan speed and pre-soaking of stone than Ho:YAG lasers. Ho:YAG lasers may be more practical in clinical settings because they are less dependent on ablation technique.

Long-term urethral function measured by uroflowmetry after hypospadias surgery: comparison with an age matched control.

PURPOSE: Long-term outcomes of hypospadias surgery, particularly urinary function, have not been examined thoroughly. Uroflowmetry can be used to evaluate long-term functional outcomes by assessing flow shape and the rate of micturition. We assessed urethral function using uroflowmetry in adolescents after undergoing hypospadias repair in infancy and compared this with age matched controls. MATERIALS AND METHODS: After human research ethics committee approval (HREC 28111A), 17 boys 13 to 15 years old with no history of urological or neurological disorders underwent uroflowmetry (65 separate voids) to determine standard values for boys of this age. Then 60 boys age 13 to 15 years who had undergone treatment for hypospadias in early infancy were seen for long-term followup and underwent uroflow assessment. RESULTS: Standard urinary flow rates were established in the 13 to 15-year-old control group and represented on a nomogram. In the boys who underwent hypospadias surgery the urine flow rates were significantly lower compared to the control nomogram (p <0.0001), with half the patients having uroflow rates below 1 SD from the control mean but without symptoms. Boys with significant preoperative chordee were more likely to have poorer urinary flow (p <0.04). A poor urinary flow rate also was significantly associated with post-void residual bladder volume (p <0.03). There was no correlation with original meatal location, number of operations, presence of postoperative complications, current anatomy and lower urinary tract symptoms (eg post-void dribble, hesitancy, incontinence). CONCLUSIONS: At long-term followup after hypospadias surgery urinary flow rates were significantly lower compared to age matched controls but still fell within the normal range. In the hypospadias cohort there was no significant association with lower urinary tract symptoms and poor urinary flow. Detection of poor urinary flow may indicate incomplete bladder emptying. The presence of severe chordee preoperatively is a significant risk factor for poor urinary flow rates on long-term followup.

Complication profile of augmentation cystoplasty in contemporary paediatric urology: a 20-year review.

BACKGROUND: The aim of this study was to describe the complication profile of augmentation cystoplasty in contemporary paediatric urology as well as its effect on bladder metrics. METHODS: Consecutive operative cases were retrospectively reviewed at a single institution over 20 years (1999-2019). Short- and long-term outcomes and complications following augmentation cystoplasty were defined. RESULTS: Of the 71 operative cases; the most common underlying diagnoses were neurogenic bladder (34%), exstrophy-epispadias complex (30%) and posterior urethral valves (23%). The most common tissue-type utilized was ileal (58%) and ureteric (30%). Peri-operative urine leak affected nine (13%) children but reservoir perforations were less common (4%). Mean end-of-study detrusor pressure improved significantly following bladder augmentation (38-17 cmH2 O, P < 0.001). Bladder capacity improved significantly (67-89%, P = 0.041). The median follow-up was 4.5 years (interquartile range: 1.9-10 years). Bladder urolithiasis affected 13 (18%) patients, and symptomatic urinary tract infections 36 (51%) patients. Formation of a continent catheterisable channel contributed a number of complications relating predominantly to stenosis (50%). Repeat augmentation cystoplasty was necessary in three (4%) cases. CONCLUSION: Augmentation cystoplasty is a surgical intervention that improves bladder metrics. Given the potential complications, careful patient selection and appropriate pre-operative counselling are essential. Furthermore, pro-active post-operative management and transitional care are vital in the surgical care of children following augmentation cystoplasty.

Early hypospadias surgery may lead to a better long-term psychosexual outcome.

PURPOSE: We evaluated long-term outcomes in boys treated for hypospadias at Royal Children's Hospital, Melbourne. MATERIALS AND METHODS: Boys who underwent hypospadias surgery were reviewed at ages 13 to 15 years. Surgical results were evaluated using the Hypospadias Objective Scoring Evaluation. Lower urinary tract function was assessed using uroflowmetry and symptom questionnaire. Self-report surveys measured quality of life, patient satisfaction, memory of surgery, psychosexual outcomes and parent satisfaction with care. RESULTS: By Hypospadias Objective Scoring Evaluation score 80% of patients had an excellent surgical outcome. Two independent reviewers assessed lower urinary tract function as normal in 82% and 86% of cases, respectively. Quality of life scores were comparable to published values in normal children. Parents rated the institution highly. Overall 90% and 81% of boys were satisfied with the body and genital appearance, respectively. Those dissatisfied with genital appearance had poorer psychosexual outcomes than satisfied patients. When surgery was completed before age 5 years, boys had no perioperative memories. An association was found between no recollection of surgery and satisfaction with body appearance. CONCLUSIONS: Objective surgical and functional outcomes are excellent after early surgery. Post-repair quality of life is comparable to published data on normal children. Parents are pleased with care. Most boys are satisfied with the body and genital appearance. However, those dissatisfied with genital appearance must be identified in the interest of psychosexual development. The association between no recollection of treatment and satisfaction with body appearance suggests that surgery should be completed before age 5 years when possible to allow the development of good body image in adolescence.

Ethics and medical research in children.

The ethics of clinical research is based on several well-known guidelines and documents. The guidelines vary between countries, but the principles of respect for persons, beneficence, and justice are constant. These principles are reflected in requirements to obtain free and informed consent, to minimize risk or harm, and to not overly burden or disadvantage particular populations. For research to be ethical, it must also be of such a standard, and be conducted in such a manner that it will generate knew and useful knowledge. Children have limited capacity for understanding and may be more open to coercion. Therefore, they are regarded as a particularly vulnerable population, and specific clauses regarding children are incorporated into many guidelines. A key concept in these clauses is the degree of risk acceptable for children involved in research. While it is generally agreed that children require particular attention because of their vulnerability, there is also increasing concern that children in general should not be disadvantaged by lack of knowledge due to reduced research activity. Finally, an increasingly active area of research in children involves genetics and biobanking. Research in these areas raises new and challenging ethical issues.

Spino-pelvic alignment after surgical correction for developmental spondylolisthesis.

This study is a retrospective multi-centre analysis of changes in spino-pelvic sagittal alignment after surgical correction of L5-S1 developmental spondylolisthesis. The purpose of this study was to determine how sagittal spino-pelvic alignment is affected by surgery, with the hypothesis that surgical correction at the lumbo-sacral level is associated with an improvement in the shape of the spine and in the orientation of the pelvis. Whether L5-S1 high grade spondylolisthesis should or should not be reduced remains a controversial subject. A popular method of treatment has been in situ fusion, but studies have reported a high rate of pseudarthrosis, slip progression and persistent cosmetic deformity. Spinal instrumentation with pedicle screws has generated a renewed interest for reduction, but the indications for this treatment and its effect on spino-pelvic alignment remain poorly defined. Recent evidence indicates that reduction might be indicated for subjects with an unbalanced (retroverted or vertical) pelvis. This is a retrospective multi-centre analysis of 73 subjects (mean age 18 +/- 3 years) with developmental spondylolisthesis and an average follow-up of 1.9 years after reduction and posterior fusion with spinal instrumentation or cast immobilisation. Spinal and pelvic alignment were measured on standing lateral digitised X-rays using a computer software allowing a very high inter and intra observer reliability. Pelvic incidence was unaffected by surgery. The most important changes were noted for grade, L5 Incidence, lumbo-sacral-angle, and lumbar lordosis, which all decreased significantly towards normal adult values. At first evaluation, pelvic tilt, sacral slope and thoracic kyphosis appeared minimally affected by surgery. However, after classifying subjects into balanced and unbalanced pelvis, significant improvements were noted in pelvic alignment in both the sub-groups, with 40% of cases switching groups, the majority from an unbalanced to a balanced pelvis alignment. The direction and magnitude of these changes were significantly different by sub-group: sacral slope decreased in the balanced pelvis group but increased in the unbalanced group, while pelvic tilt values did the opposite. While pelvic shape is unaffected by attempts at surgical reduction, proper repositioning of L5 over S1 significantly improves pelvic balance and lumbar shape by decreasing the abnormally high lumbar lordosis and abnormal pelvic retroversion. These results emphasise the importance of sub-dividing subjects with high grade developmental spondylolisthesis into unbalanced and balanced pelvis groups, and further support the contention that reduction techniques might be considered for the unbalanced retroverted pelvis sub-group.

Orchidopexy in children with Prader-Willi syndrome: Results of a long-term follow-up study.

INTRODUCTION: Prader-Willi syndrome (PWS) is a rare (1:20.000) genetic condition affecting both males and females. Among other features, in boys, the syndrome is characterized by cryptorchidism in 86-100% of cases, hypogonadism, delayed puberty and infertility. The aim of the present study is to appraise the results of orchidopexy in this selected population of children. STUDY DESIGN: A follow-up study of children with PWS treated for undescended testes at a single institution over a 20-year period was performed. Patients were identified from a National PWS registry and reviewed at a special follow-up clinic. Data were collected from electronic and hard copies records and reported as median (range). RESULTS: Thirty-three children (1-17 years) were identified. Co-morbidities were present in 22 (66%) and 15 (45%) were on growth-hormone therapy. Six patients (19%) had normal testes palpable in the scrotum; twenty-seven (81%) had undescended testes and required orchidopexy. Thirteen (48%) underwent a bilateral procedure for a total of 40 procedures. A 2-stage Fowler-Stephens orchidopexy was required in 2 (7%) testes. At surgery hypotrophic testes were documented in 6 (22%) patients. Age at orchidopexy was 1.4 years (0.5-5.5). Age at FU was 7.2 years (1.7-17). Length of follow-up is 3.5 years (0.4-14). At follow-up 16 (40%) testes were of normal size and palpable in the scrotum; 7 (17.5%) testes required redo-orchidopexy. All patients (6/33) over 16 years of age that had testosterone levels tested had values below normal limits after successful orchidopexy. CONCLUSIONS: This study evaluates the results of orchidopexy in a large population of children with PWS. At follow-up, only 40% of testes were of normal size and in the scrotum. This information should be taken into consideration for patients' management and pre-operative parents' counseling.

What is the risk of local recurrence after laparoscopic transperitoneal radical nephrectomy in children with Wilms tumours? Analysis of a local series and review of the literature.

BACKGROUND: To reduce long-term morbidity (adhesions-related complications and impaired quality of life due to scars), laparoscopy has been used as an alternative to open surgery in Wilms tumours (WTs). However, concerns have been raised on the risk of local recurrence after this type of resection. OBJECTIVE: The aim was to determine the incidence of local recurrence after laparoscopic transperitoneal radical nephrectomy (LTRN). STUDY DESIGN: We analysed 18 local cases and conducted a review of the English literature in Pubmed from 2004 to 2017 with the following keywords: (Wilms OR nephroblastoma) AND (laparoscopy OR minimally invasive surgery) AND 2004:3000. The review was conducted according to PRISMA guidelines. Data were collected independently in duplicate in a preformed Excel database. Review articles and duplicated case reports were excluded. Patients with retroperitoneoscopic or nephron-sparing surgery were also excluded. RESULTS: One hundred and four LTRNs have been performed for WT with neoadjuvant chemotherapy in 93 cases. Tumour was ruptured preoperatively in three cases but never intraoperatively. The median volume of the tumour was 229.4 mL (3.8-776 mL). Local stage was specified in 86 cases: 49 stage I, 28 stage II, and nine stage III. Lymph nodes were sampled in 48 patients (median 2.3 [0-14] nodes). Histology was reported in 90 cases: 27 favourable and two unfavourable histology (COG); and six low, 50 intermediate, and five high-risk tumours (International Society of Paediatric Oncology). With a median follow-up of 20.5 months (1-114 months), there were four local recurrences (3.8%) at a median of 8.5 (7-9) months after surgery. Three tumours were initial local stage I (2 intermediate and 1 high risk) and one stage III. The results are presented in the Figure. DISCUSSION: The incidence of local recurrence after LTRN is 3.8%. This is lower than previously reported after open resection. However, tumours amenable to minimally invasive surgery are smaller, with higher numbers of low stage and standard histology. Additionally, the quality of the reports is suboptimal and follow-up is relatively short. CONCLUSION: LTRN does not seem to increase the incidence of local recurrence in WT but inclusion of patients in international protocols with prolonged and systematic follow-up is of utmost importance to carefully evaluate this risk.

Decreased N-methyl-D-aspartic acid (NMDA) receptor levels are associated with mercury exposure in wild and captive mink.

Mercury (Hg) impairs glutamate homeostasis but little is known about its effects on the N-methyl-d-aspartic acid (NMDA) receptor. Here, we investigated NMDA receptor levels, as determined by [(3)H]-MK801 binding, in both wild and captive mink (Mustela vison) that experienced different levels of methylmercury (MeHg) exposure. Competitive in vitro binding experiments showed that inorganic Hg (HgCl(2); IC(50)=1.5-20.7 microM), but not MeHg (MeHgCl; IC(50)>320 microM), inhibited binding to the NMDA receptor in several brain regions of mink. In a survey of trapped wild mink, NMDA receptor levels in the brain were negatively correlated (p<0.005) with concentrations of total Hg (R=-0.618) and MeHg (R=-0.714). These findings were supported by a laboratory feeding study in which captive mink were exposed to dietary MeHg (0-2 ppm) for 89 days. Concentration-dependent decreases in NMDA receptor levels were found in the basal ganglia, cerebellum, brain stem and occipital cortex. These findings are of physiological and ecological concern because they demonstrate that Hg, at dietary concentrations as low as 0.1 ppm, can significantly reduce NMDA receptor levels.

Polychlorinated biphenyls, organochlorinated pesticides, and polybrominated diphenyl ethers in the cerebral cortex of wild river otters (Lontra canadensis).

We measured the levels of ortho-substituted polychlorinated biphenyls (PCB), organochlorinated pesticides (OCP), and polybrominated diphenyl ethers (PBDE) in the cerebral cortex of river otters (Lontra canadensis) trapped from Ontario and Nova Scotia between 2002 and 2004. The mean concentration of total PCBs was 70.9+/-12.1 ng/g l.w., and congeners 153, 180 and 138 accounted for nearly 60% of the sum. The mean concentration of total OCPs was 21.2+/-3.7 ng/g l.w., and hexachlorobenzene (32.6% of total) and DDE (28.1%) accounted for the majority. The mean concentration of total PBDEs was 3.2+/-0.6 ng/g l.w., and congeners 99 (44.9%), 153 (30.5%), and 100 (24.7%) were measured at the indicated percentages. There was no relationship between these residue data and concentrations of brain mercury or neurochemical receptors and enzymes as determined in earlier studies on these same animals.

Bladder continent catheterizable conduit (the Mitrofanoff procedure): Long-term issues that should not be underestimated.

BACKGROUND: Effective bladder emptying by clean intermittent catheterization for children with severe bladder dysfunction is critical for renal preservation and social integration. Use of a continent catheterizable conduit (CCC) as urethral alternative procedure provides effective bladder drainage. However, it brings a substantive maintenance. METHODS: Retrospective review of the indications and long-term outcomes of 54 patients with a Mitrofanoff procedure in a single center over a 20-year period (1995-2015). RESULTS: Indications of CCC include 21 neurogenic bladders, 12 patients with epispadias/exstrophy, 13 bladder outlet obstruction, 6 malignancies and 2 cloaca. Median age at surgery was 8.3years (4months-20years). The appendix was used in 76% of cases. Most frequently encountered complication was stomal stenosis (n=17/34, 50%), occurring at median time of 9months (2months-13years). The other complications were: leakage in 9 (26.5%); conduit stricture in 5 (14.7%), angulation of the conduit in 2 (5.8%) and prolapse in one (3%). Operative revision was encountered by 33 (61%) patients, the majority in the first 2years. Median follow-up was 4.3years (3months-16years). CONCLUSIONS: CCC has a high incidence of complication. It has to be used only when the native urethra is not suitable for catheterization. Carers, patients and families must be prepared to deal with both the complexity of index conditions and the complications of this procedure.

Two-stage graft urethroplasty for proximal and complicated hypospadias in children: A retrospective study.

INTRODUCTION: Although two-stage graft urethroplasty is widely used, the literature regarding the complication rates and functional characteristics of reconstructed neourethra is relatively modest. OBJECTIVES: The aim was to analyze the complication rates and uroflow data of boys who have previously undergone a two-stage graft urethroplasty procedure for proximal and complicated hypospadias. PATIENTS AND METHODS: We retrospectively reviewed the clinical outcomes of 52 boys with proximal (n = 44) and complicated (n = 8) hypospadias who underwent two-stage graft urethroplasty repair (median age of 15 months and 3 years respectively) between 2004 and 2015. Fifteen toilet-trained boys without fistulas underwent uroflowmetry. The uroflow data were plotted on age-volume-dependent normograms with normal controls. The median follow-up was 34 months (8 months-8 years). RESULTS AND COMPLICATIONS: Complications were identified in three patients (6%) after the first stage (i.e. contracture of the graft) and in 20 patients (38.4%) after the second stage, including meatal stenosis (n = 8, 15.3%), urethral stricture (n = 4, 7.6%), urethrocutaneous fistula (n = 8, 15.3%), glandular dehiscence (n = 1, 1.9%), and diverticulum (n = 1, 1.9%). The patients with failed hypospadias experienced fewer complications than those who underwent the two-stage procedure for primary repair (25% and 45%, respectively). The reoperation rate was 36.8%. Eleven of the 15 toilet-trained boys were asymptomatic but exhibited flow rates below the normal range (median Qmax = 7 mL/s, range 3.5-16.7). Only one of the boys with a low flow rate was confirmed to have urethral stenosis under general anesthesia. DISCUSSION: In our study, primary hypospadias repair requiring urethral plate transection elicited worse outcomes than those observed in the prior failed hypospadias cases. However, because of our study's retrospective design, we were unable to accurately assess the initial position of the meatus in the redo hypospadias cases. Our data also demonstrated that the majority of cases without any voiding symptoms exhibited flow rates that were below the normal range despite no urethral stricture under general anesthesia. These findings indicate that urethras reconstructed via two-stage graft urethroplasty repair are not functionally equivalent to normal urethras, at least prior to puberty. CONCLUSION: Two-stage graft urethroplasty repair was successful in 62% of cases after the second-stage procedure, but one-third of the boys required a reoperation after the two-stage planned repair. We demonstrated that although we used a urethral tissue substitute, the urine flow patterns of the patients without strictures were abnormal.

DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know.

INTRODUCTION: Germline-inactivating DICER1 mutations are responsible of a familial tumour susceptibility syndrome with an increased risk of tumours, mainly pleuropulmonary blastoma (PPB). DICER1 mutations also cause a range of other tumours, some of them in urogenital organs (cystic nephroma [CN], ovarian sex cord-stromal tumours, bladder and cervix embryonal rhabdomyosarcoma [ERMS]). OBJECTIVE: The aim was to clarify the range of urogenital phenotypes associated with DICER1 mutations and to give practical course of action to paediatric urologist that are exposed to DICER1-related conditions. STUDY DESIGN: A literature review was performed. Pertinent papers focused on urogenital diseases associated with DICER1 mutations were reviewed. RESULTS: Seventy per cent of CN have a DICER1 germline mutation. The majority of them (80%) have PPB. Like PPB, CN could undergo a malignant progression to a primitive sarcoma. Some rare cases of Wilms tumours were reported. Regarding gonadal manifestations, sex-cord stromal neoplasia of the ovary, especially Sertoli-Leydig cell tumour (SLCT), is the most frequent tumour associated with DICER1 germline mutation. Germline DICER1 mutations also predispose to uterine cervix and bladder ERMS. DISCUSSION: The presence of unusual tumours suggesting DICER1 mutations may alert clinicians. The first step is to obtain a complete familial history. The variable clinical presentation and the modest penetrance raise concerns about the appropriateness of genetic testing to patients and their relatives. The education of DICER1 mutations carriers about tumour-related symptoms is consensual. In the first 5 years of life, a yearly chest X-ray and abdominal ultrasound are recommended. CONCLUSION: The presence of a CN, ovarian SLCT or urogenital ERMS in a child should alert the clinician to the possibility of DICER1 mutation and the associated risk of PPB. Individuals with one of the typical DICER1 conditions should be offered DICER1 analysis. Despite the low penetrance, a genetic counselling and testing should be offered to the family of the affected child.

Testicular biopsy in prepubertal boys: a worthwhile minor surgical procedure?

No consensus exists regarding the precise role of testicular biopsy in prepubertal boys, although it is considered useful for assessing the potential consequences of undescended testes on fertility. Current scientific knowledge indicates that surgeons should broaden indications for this procedure. For example, the use of immunohistochemical markers such as OCT/3-4, TSPY, Kit ligand (SCF) and ALPP (PLAP) has considerably facilitated the detection of germ cell tumour precursors, such as carcinoma in situ and/or gonadoblastoma. These markers are very important for evaluating malignancy risk in undervirilized patients with 46,XY disorders of sexual development. Testicular histology is also of considerable value in the prediction of both fertility potential and risk of cancer in individuals with undescended testes, particularly those with intraabdominal undescended testes. New possibilities for the preservation of fertility after gonadotoxic chemotherapy - even for prepubertal boys - are emerging. Cryopreservation of testicular tissue samples for the preservation of fertility - although still an experimental method at present - is appealing in this context. In our opinion, testicular biopsy in prepubertal boys is a minor procedure that can provide valuable information for predicting the risk of malignancy and fertility, and might be useful in fertility preservation in the near future.