International Consensus Statement on the Radiological Evaluation of Dysraphic Malformations of the Spine and Spinal Cord.

Dysraphic malformations of the spine and spinal cord (DMSSC) represent a spectrum of common congenital anomalies typically (though not exclusively) affecting the lower spinal segments. These may be responsible for varying degrees of neurologic, orthopedic, and urologic morbidity. With advances in neuroimaging, it is now possible to better diagnose and evaluate these disorders both prenatally and postnatally. Neuroimaging, performed at the right time and with technique optimization, is integral in guiding clinical management. However, the terminology used to describe these lesions has become increasingly confusing, and there is a lack of consensus regarding the essential radiologic features and their clinical weighting. This variability in radiologic practice risks unstructured decision making and increases the likelihood of suboptimal, less informed clinical management. In this manuscript, the first of a series of consensus statements, we outline a standardized international consensus statement for the radiologic evaluation of children with suspected DMSSC derived from a critical review of the literature, and the collective clinical experience of a multinational group of experts. We provide recommendations for plain radiography, sonography, CT, and MR imaging in the evaluation of DMSSC with an emphasis on technique of imaging and imaging protocols.

Contractile and Structural Properties of Detrusor from Children with Neurogenic Lower Urinary Tract Dysfunction.

Neurogenic lower urinary tract (NLUT) dysfunction in paediatric patients can arise after congenital or acquired conditions that affect bladder innervation. With some patients, urinary tract dysfunction remains and is more difficult to treat without understanding the pathophysiology. We measured in vitro detrusor smooth muscle function of samples from such bladders and any association with altered Wnt-signalling pathways that contribute to both foetal development and connective tissue deposition. A comparator group was tissue from children with normally functioning bladders. Nerve-mediated and agonist-induced contractile responses and passive stiffness were measured. Histology measured smooth muscle and connective tissue proportions, and multiplex immunohistochemistry recorded expression of protein targets associated with Wnt-signalling pathways. Detrusor from the NLUT group had reduced contractility and greater stiffness, associated with increased connective tissue content. Immunohistochemistry showed no major changes to Wnt-signalling components except down-regulation of c-Myc, a multifunctional regulator of gene transcription. NLUT is a diverse term for several diagnoses that disrupt bladder innervation. While we cannot speculate about the reasons for these pathophysiological changes, their recognition should guide research to understand their ultimate causes and develop strategies to attenuate and even reverse them. The role of changes to the Wnt-signalling pathways was minor.

Haematuria in children.

Haematuria is a common finding in children and can be macroscopic or microscopic. In contrast to adults, haematuria in children very rarely indicates an underlying malignant pathology. The differential diagnosis is broad, with the most common underlying causes being infection, glomerulonephritis and hypercalciuria. It is useful to distinguish between nephrological or upper urinary tract and lower urinary tract pathologies, as this will guide investigations and referral. This review discusses the causes of haematuria in the paediatric population.

Patterns of spinal cord malformation in cloacal exstrophy.

OBJECTIVE: The objective of this study was to assess the prevalence and spectrum of spinal dysraphism in a cohort of children with cloacal exstrophy (CEX) using MRI. METHODS: Children with CEX presenting between 1999 and 2019 with baseline spinal MRI were included. The images were reviewed in consensus to assess the type of dysraphism. The dysraphisms were initially reviewed and described based on their descriptive anatomy, and then classified according to anomalies of gastrulation, primary neurulation, or secondary neurulation. RESULTS: Thirty-four children were included. Thirty-three of these children had closed spinal dysraphism, and 1 had a normal spine. Of the 33 cases of closed spinal dysraphism, the conus and/or filum terminale were involved in all cases. The most common malformations were spinal lipoma (n = 20) and terminal myelocystocele (n = 11). The lipomas were heterogeneous: 4 dorsal, 9 transitional, 4 chaotic, and 3 terminal. A large subgroup (10/20, 50%) within the lipomas had an unusual morphology of noncontiguous double lipomas, the proximal fat related to the conus and the distal fat within the filum. These were difficult to characterize using existing classifications. In 2 cases, only a thickened filum was noted. The majority of these malformations were compatible with a disorder of secondary neurulation. CONCLUSIONS: Complex spinal dysraphisms are consistently associated with CEX. The unusual dysraphism patterns found in this group of patients highlight the limitations of current embryological classifications. Given the propensity for neurological deterioration in this group of patients, spinal MRI should be routinely performed. The type and distribution of malformations seen have implications for the wider understanding of the pathogenesis and classification of lumbosacral lipomas.

Antenatal biological models in the characterization and research of congenital lower urinary tract disorders.

Congenital lower urinary tract disorders are a family of diseases affecting both urinary storage and voiding as well as upstream kidney function. Current treatments include surgical reconstruction but many children still fail to achieve urethral continence or progress to chronic kidney disease. New therapies can only be achieved through undertaking research studies to enhance our understanding of congenital lower urinary tract disorders. Animal models form a critical component of this research, a corner of the triangle composed of human in-vitro studies and clinical research. We describe the current animal models for two rare congenital bladder disorders, posterior urethral valves (PUV) and bladder exstrophy (BE). We highlight important areas for researchers to consider when deciding which animal model to use to address particular research questions and outline the strengths and weaknesses of current models available for PUV and BE. Finally, we present ideas for refining animal models for PUV and BE in the future to stimulate future researchers and help them formulate their thinking when working in this field.

Dual Pathology Causing Congenital Bladder Outlet Obstruction.

Anterior urethral syringocele is an uncommon congenital deformity characterized by cystic dilatation of bulbourethral gland ducts and is usually asymptomatic. We present a case on 4-day-old male neonate who presented with bilateral antenatal hydroureteronephrosis and renal impairment and found to have urethral syringocele and posterior urethral valves.

Contractile function of detrusor smooth muscle from children with posterior urethral valves - The role of fibrosis.

INTRODUCTION: Posterior urethral valves (PUV) is the most common cause of congenital bladder outflow obstruction with persistent lower urinary tract and renal morbidities. There is a spectrum of functional bladder disorders ranging from hypertonia to bladder underactivity, but the aetiology of these clinical conditions remains unclear. AIMS AND OBJECTIVES: We tested the hypothesis that replacement of detrusor muscle with non-muscle cells and excessive deposition of connective tissue is an important factor in bladder dysfunction with PUV. We used isolated detrusor samples from children with PUV and undergoing primary or secondary procedures in comparison to age-matched data from children with functionally normal bladders. In vitro contractile properties, as well as passive stiffness, were measured and matched to histological assessment of muscle and connective tissue. We examined if a major pathway for fibrosis was altered in PUV tissue samples. METHODS: Isometric contractions were measured in vitro in response to either stimulation of motor nerves to detrusor or exposure to cholinergic and purinergic receptor agonists. Passive mechanical stiffness was measured by rapid stretching of the tissue and recording changes to muscle tension. Histology measured the relative amounts of detrusor muscle and connective tissue. Multiplex quantitative immunofluorescence labelling using five epitope markers was designed to determine cellular pathways, in particular the Wnt-signalling pathway, responsible for any changes to excessive deposition of connective tissue. RESULTS AND DISCUSSION: PUV tissue showed equally reduced contractile function to efferent nerve stimulation or exposure to contractile agonists. Passive muscle stiffness was increased in PUV tissue samples. The smooth muscle:connective tissue ratio was also diminished and mirrored the reduction of contractile function and the increase of passive stiffness. Immunofluorescence labelling showed in PUV samples increased expression of the matrix metalloproteinase, MMP-7; as well as cyclin-D1 expression suggesting cellular remodelling. However, elements of a fibrosis pathway associated with Wnt-signalling were either reduced (ß-catenin) or unchanged (c-Myc). The accumulation of extracellular matrix, containing collagen, will contribute to the reduced contractile performance of the bladder wall. It will also increase tissue stiffness that in vivo would lead to reduced filling compliance. CONCLUSIONS: Replacement of smooth muscle with fibrosis is a major contributory factor in contractile dysfunction in the hypertonic PUV bladder. This suggests that a potential strategy to restore normal contractile and filling properties is development of the effective use of antifibrotic agents.

The value of the routine third trimester ultrasound scan in antenatal care: Problems with guidance and outdated data in a highly technological field.

Ultrasound scanning is a cornerstone of modern antenatal care, enabling the detection of fetal abnormalities such as congenital disease, chromosomal defects and growth-disorders as well as maternal diseases such as pre-eclampsia. As technology and techniques evolve, care paradigms and clinical guidance must be re-evaluated with current literature so as to provide expectant parents with the highest quality of care. We present here the current state of the literature, the conflict between guidance and research endeavours and present suggestions for future study.

Does thoracoscopy have advantages over open surgery for asymptomatic congenital lung malformations? An analysis of 1626 resections.

AIM: The apparent incidence of antenatally diagnosed congenital lung malformations (CLM) is rising (1 in 3000), and the majority undergo elective resection even if asymptomatic. Thoracoscopy has been popularized, but early series report high conversion rates and significant complications. We aimed to perform systematic review/meta-analysis of outcomes of thoracoscopic vs open excision of asymptomatic CLMs. METHODS: A systematic review according to PRISMA guidelines was performed. Data were extracted for all relevant studies (2004-2015) and Rangel quality scores calculated. Analysis was on 'intention to treat' basis for thoracoscopy and asymptomatic lung lesions. Meta-analysis was performed using the addon package METAN of the statistical package STATA14™; p<0.05 was considered significant. RESULTS: 36 studies were eligible, describing 1626 CLM resections (904 thoracoscopic, 722 open). There were no randomized controlled trials. Median quality score was 14/45 (IQR 6.5) 'poor'. 92/904 (10%) thoracoscopic procedures were converted to open. No deaths were reported. Meta-analysis showed that regarding thoracoscopic procedures, the total number of complications was significantly less (OR 0.63, 95% CI 0.43, 0.92; p<0.02, 12 eligible series, 912 patients, 404 thoracoscopic). Length of stay was 1.4days shorter (95%CI 2.40, 0.37;p<0.01). Length of operation was 37 min longer (95% CI 18.96, 54.99; p<0.01). Age, weight, and number of chest tube days were similar. There was heterogeneity (I2 30%, p=0.15) and no publication bias seen. CONCLUSIONS: A reduced total complication rate favors thoracoscopic excision over thoracotomy for asymptomatic antenatally diagnosed CLMs. Although operative time was longer, and open conversion may be anticipated in 1/10, the overall length of hospital stay was reduced by more than 1day. LEVEL OF EVIDENCE: 4 (based on lowest level of article analyzed in meta-analysis/systematic review).

Minimally invasive surgery in management of renal tumours in children.

Minimally invasive surgery (MIS) in the management of malignant and benign renal tumours in children is gradually becoming more common. Experience is limited and restricted to case reports, retrospective chart reviews and a few cohort studies. There are currently no randomized controlled trials or controlled clinical trials comparing the laparoscopic and open surgical approach for the management of renal tumours in children. MIS may offer the same oncologic outcome in malignant renal tumours whilst providing the advantages associated with MIS in correctly selected cases. The technique for tumour resection has been shown to be feasible in regards to the recommended oncologic principles, although lymph node sampling can be inadequate in some cases. Preliminary reports do not show an increased risk of tumour rupture or inferior oncologic outcomes after MIS. However, the sample size remains small and duration of follow-up inadequate to draw any firm conclusions. Implementation of MIS is lacking in the protocols of the major study groups, and standardized recommendations for the indications and contra-indications remain undefined. The objective of this article is to present a review of the literature on the role of MIS in the management of renal tumours in children, with the main focus on Wilms' tumour (WT). Further studies on MIS in renal tumours are required to evaluate the incidence of oncological complications such as complete tumour resection and intra-operative tumour spillage. A long-term follow-up of patients managed by MIS is essential to compare recurrence rates and overall survival rates.

Urological and sexual outcome in patients with Hirschsprung disease: A systematic review.

PURPOSE: There is a paucity of recent evidence regarding long-term urological and sexual outcomes following surgery for Hirschsprung disease (HD). We aimed to undertake a systematic review of all HD literature to define these outcomes. MATERIALS AND METHODS: A systematic literature search was conducted on studies from 1966 to 2014. Relevant articles were assessed for urological/sexual operative complications and functional sequelae. Studies were analysed in qualitative (Rangel score) and quantitative syntheses. RESULTS: Initially 257 reports were assessed, with 24 studies were eligible for inclusion (1972-2014). Mean study quality was 16.5 ± SD 4.8 (range 6-23), indicating overall fair/poor quality. Ten studies (1021 patients) reported operative complications, with ureteric/urethral/vaginal injury occurring in seven (0.7%) patients. In three studies, the primary outcome was urological functional assessment. From 17 studies, 52/2546 patients (2.0%) had reported urinary incontinence. In infants, absent spontaneous erections post-operatively was reported in 3/203 patients (1.5%, 5 studies); of these 3, parents did not note spontaneous erections pre-operatively either. In older patients, erectile dysfunction occurred in 6/498 (1.2%) males. Other sexual outcomes were reported in 10 studies, with 5/10 studies (416 patients) reporting no erectile dysfunction. In the other studies reports ranged from non-specified sexual dysfunction in one study to diverse sexual related problems in nine (7.8%) of their patients in another. CONCLUSIONS: Urological/sexual outcomes are rarely reported after HD surgery (24 studies over 42 years). Study quality is usually poor and a large proportion of the studies are more than 30 years old. In the majority of series it is unclear whether urological and sexual function impairments were not present or if they were not assessed. Prospective reporting of urological/sexual outcome is required, in particular in the era of new surgical techniques/approaches to HD.

Cloacal Exstrophy Repair with Primary Closure of Bladder Exstrophy: A Case Report and Review of Literature.

Cloacal exstrophy is the most complex congenital, ventral, abdominal wall defect. Traditionally surgery consists of a staged approach to repair which takes place on many separate theatre visits. In this case a primary approach was undertaken resulting in a relatively short inpatient stay and a reduced risk from multiple surgical procedures under general anaesthesia.

Simulation Testing for Selection of Critical Care Medicine Trainees. A Pilot Feasibility Study.

RATIONALE: Selection of physicians into anesthesiology, intensive care, and emergency medicine training has traditionally relied on evaluation of curriculum vitae, letters of recommendation, and interviews, despite these methods being poor predictors of subsequent workplace performance. OBJECTIVES: In this study, we evaluated the feasibility and face validity of incorporating assessment of nontechnical skills in simulation and personality traits into an existing junior doctor selection framework. METHODS: Candidates short-listed for a critical care residency position were invited to participate in the study. On the interview day, consenting candidates participated in a simulation scenario and debriefing and completed a personality test (16 Personality Factor Questionnaire) and a survey. Timing of participants' progression through the stations and faculty staff numbers were evaluated. Nontechnical skills were evaluated and candidates ranked using the Ottawa Crisis Resource Management Global Rating Scale (Ottawa GRS). Nontechnical skills ranking and traditional selection method ranking were compared using the concordance correlation coefficient. Interrater reliability was assessed using the concordance correlation coefficient. MEASUREMENTS AND MAIN RESULTS: Thirteen of 20 eligible participants consented to study inclusion. All participants completed the necessary stations without significant time delays. Eighteen staff members were required to conduct interviews, simulation, debriefing, and personality testing. Participants rated the simulation station to be acceptable, fair, and relevant and as providing an opportunity to demonstrate abilities. Personality testing was rated less fair, less relevant, and less acceptable, and as giving less opportunity to demonstrate abilities. Participants reported that simulation was equally as stressful as the interview, whereas personality testing was rated less stressful. Assessors rated both personality testing and simulation as acceptable and able to provide additional information about candidates. The Ottawa GRS showed moderate interrater concordance. There was moderate concordance between rankings based on traditional selection methods and Ottawa GRS rankings (ρ = 0.52; 95% confidence interval, -0.02 to 0.82; P = 0.06). CONCLUSIONS: A multistation selection process involving interviews, simulation, and personality testing is feasible and has face validity. A potential barrier to adoption is the high number of faculty required to conduct the process.

A Case of Embryonal Rhabdomyosarcoma Presenting as a Lobulated Protrusion From the Urethral Meatus at Birth.

This is the first reported case of rhabdomyosarcoma presenting as a mass protruding from the urethral meatus present at birth. A male neonate was transferred to a tertiary pediatric urology center on day 4 of life where the mass was surgically excised. Histology confirmed an embryonal rhabdomyosarcoma and chemotherapy commenced. The patient completed chemotherapy at the age of 8 months. The child is now 3.5 years old and well with no recurrence of disease.

Functional properties and connective tissue content of pediatric human detrusor muscle.

The functional properties of human pediatric detrusor smooth muscle are poorly described, in contrast to those of adult tissue. Characterization is necessary for more informed management options of bladder dysfunction in children. We therefore compared the histological, contractile, intracellular Ca2+ concentration responses and biomechanical properties of detrusor biopsy samples from pediatric (3-48 mo) and adults (40-60 yr) patients who had functionally normal bladders and were undergoing open surgery. The smooth muscle fraction of biopsies was isolated to measure proportions of smooth muscle and connective tissue (van Gieson stain); in muscle strips, isometric tension to contractile agonists or electrical field stimulation and their passive biomechanical properties; in isolated myocytes, intracellular Ca2+ concentration responses to agonists. Pediatric detrusor tissue compared with adult tissue showed several differences: a smaller smooth muscle-to-connective tissue ratio, similar contractures to carbachol or α,ß-methylene ATP when corrected for smooth muscle content, and similar intracellular Ca2+ transients to carbachol, α,ß-methylene ATP, raised K+ concentration or caffeine, but smaller nerve-mediated contractions and greater passive stiffness with slower stress relaxation. In particular, there were significant atropine-resistant nerve-mediated contractions in pediatric samples. Detrusor smooth muscle from functionally normal pediatric human bladders is less contractile than that from adult bladders and exhibits greater passive stiffness. Reduced bladder contractile function is not due to reduced smooth muscle contractility but to greater connective tissue deposition and to functional denervation. Significant atropine resistance in pediatric detrusor, unlike in adult tissue, demonstrates a different profile of functional neurotransmitter activation. These data have implications for the management of pediatric bladder function by therapeutic approaches.

Antenatal mild hydronephrosis with subsequent polyp of the upper ureter in a child presenting with recurrent Dietl's crisis.

We report a 7-year-old boy who had antenatally diagnosed and postnatally confirmed asymptomatic right congenital hydronephrosis secondary to ureteropelvic junction obstruction with the anteroposterior diameter ranging from 7 to 15 mm on serial ultrasound scans till the age of 6 years. He then presented with recurrent attacks of Dietl's crisis almost every month in the seventh year of his life and eluded diagnosis for over a year at various national hospitals, and ended up with an international referral to us. Investigations of the acute attacks clinched the diagnosis of ureteral polyp causing intermittent crisis and he underwent segmental resection and reconstruction in the form of dismembered Anderson-Hyne pyeloplasty with good recovery. Our case revealed that prenatally detected hydronephrosis may worsen after spontaneous postnatal improvement and a polyp acting as a flip valve may produce intermittent hydronephrosis and symptoms later in life. The child should undergo urgent investigations during acute symptoms.

Meconium is not enough: look for the hole!

Anorectal malformations are usually diagnosed at birth, and the diagnosis is usually readily apparent in boys and girls by direct inspection of the perineal region. However, some of the less complex lesions, often referred to as 'low lesions', such as rectovestibular fistula in girls, may not be diagnosed at birth. These children are able to pass meconium, and it is only when the narrow fistula fails to pass formed stool later in infancy or childhood does the child become symptomatic. It is important to emphasise that the diagnosis of these defects should be made during neonatal predischarge examination. Such a delayed diagnosis may change their management, complicate surgical repair and may contribute to both functional and psychological problems for the patient and family.

Blunt abdominal trauma resulting in gallbladder injury: a review with emphasis on pediatrics.

BACKGROUND: Gallbladder injury in blunt abdominal trauma is a rare and difficult diagnosis. Gallbladder injury is reported to be between 1.9% and 2.1% of all abdominal traumas. It has vague symptoms usually with inconclusive investigation results; hence, it is often diagnosed at laparotomy. The patient typically has vague abdominal pain and occasionally a period of remission depending on the type of gallbladder injury. In pediatrics, blunt abdominal trauma presents additional challenges of difficult historians and compensating physiology. Any delay in diagnosis and definitive management will worsen the prognosis. Making the diagnosis requires astute clinical acumen and radiologic interpretation. The classification system of Losanoff has merit in guiding treatment. While cholecystectomy is the preferred treatment, there are occasions when the gallbladder may be left in situ and these are discussed. METHODS: Literature searches were performed using Pubmed and Medline with keywords "abdominal trauma," "gallbladder injury," and "gallbladder perforation." DISCUSSION: The authors highlight the incidence of associated visceral injuries in gallbladder trauma (>90%). Gallbladder perforation is more likely in cases when the gallbladder is distended and thin-walled at the time of injury. Therefore, we recommend that gallbladder perforation is suspected in those patients who have drunk alcohol or eaten recently. Despite the developments in modern computed tomography, identifying gallbladder perforation is difficult because of the subtlety and rarity of the condition. We draw attention to the proposed anatomic classification systems because they are of some use in guiding treatment. In the absence of a diagnosis after blunt abdominal trauma and with intra-abdominal free fluid, the clinician faces the difficult decision of whether surgery is indicated for a potential visceral injury. After discussing the available evidence, the authors advocate a low index of suspicion for performing diagnostic laparoscopy.