SUMMARYPodocytes are highly specialized cells in the vertebrate kidney. They participate in the formation of the size-exclusion barrier of the glomerulus/glomus and recruit mesangial and endothelial cells to form a mature glomerulus. At least six transcription factors (wt1, foxc2, hey1, tcf21, lmx1b and mafb) are known to be involved in podocyte specification, but how they interact to drive the differentiation program is unknown. The Xenopus pronephros was used as a paradigm to address this question. All six podocyte transcription factors were systematically eliminated by antisense morpholino oligomers. Changes in the expression of the podocyte transcription factors and of four selected markers of terminal differentiation (nphs1, kirrel, ptpru and nphs2) were analyzed by in situ hybridization. The data were assembled into a transcriptional regulatory network for podocyte development. Although eliminating the six transcription factors individually interfered with aspects of podocyte development, no single gene regulated the entire differentiation program. Only the combined knockdown of wt1 and foxc2 resulted in a loss of all podocyte marker gene expression. Gain-of-function studies showed that wt1 and foxc2 were sufficient to increase podocyte gene expression within the glomus proper. However, the combination of wt1, foxc2 and Notch signaling was required for ectopic expression in ventral marginal zone explants. Together, this approach demonstrates how complex interactions are required for the correct spatiotemporal execution of the podocyte gene expression program.

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Tethered cord syndrome describes a condition of multisystem end organ dysfunction due to fixation of the spinal cord. This systematic review focuses on the closed skin variant of this condition, occult spinal dysraphism. The embryology, pathophysiology, presentation, and classification of occult spinal dysraphism are explained to develop a simple framework for discussions regarding this often confusing condition. Following Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) guidelines, we synthesized urologic outcome data after tethered cord release in children from 17 studies performed over the past 25 years. These results prompted several conclusions. First, the different subgroups and different nomenclature of tethered cord syndrome are often confused, making interpretation of results difficult. Second, untethering has a positive effect on urologic symptoms and urodynamics parameters. Third, timing of untethering is important: early intervention prevents significant long-term traction aiming to avoid irreversible neurologic damage. Fourth, pediatric urologists and neurosurgeons have an important role in diagnosing and treating this condition and should work closely as part of a multidisciplinary team.

Objective: Review outcomes of Prune Belly Syndrome (PBS) with the hypothesis that contemporary management improves mortality.Methods: A retrospective chart review of inpatient and outpatient PBS patients referred between 2000 and 2018 was conducted to assess outcomes at our institution. Data collected included age at diagnosis, concomitant medical conditions, imaging, operative management, length of follow-up, and renal function.Results: Forty-five PBS patients presented during these 18 years. Prenatal diagnoses were made in 17 (39%); 65% of these patients underwent prenatal intervention. The remaining patients were diagnosed in the infant period (20, 44%) or after 1 year of age (8, 18%). Twelve patients died from cardiopulmonary complications in the neonatal period; the neonatal mortality rate was 27%. The mean follow-up among patients surviving the neonatal period was 84 months. Forty-two patients had at least one renal ultrasound (RUS); of the 30 patients with NICU RUSs, 26 (89%) had hydronephrosis and/or ureterectasis. Of the 39 patients who underwent voiding cystourethrogram (VCUG), 28 (62%) demonstrated VUR. Fifty-nine percent had respiratory distress. Nine patients (20%) were oxygen-dependent by completion of follow up. Thirty-eight patients (84%) had other congenital malformations including genitourinary (GU) 67%, gastrointestinal (GI) 52%, and cardiac 48%. Sixteen patients (36%) had chronic kidney disease (CKD) of at least stage 3; three patients (7%) had received renal transplants. Eighty-four percent of patients had at least one surgery (mean 3.4, range 0–6). The most common was orchiopexy (71%). The next most common surgeries were vesicostomy (39%), ureteral reimplants (32%), abdominoplasty (29%), nephrectomy (25%), and appendicovesicostomy (21%). After stratifying patients according to Woodard classification, a trend for 12% improvement in mortality after VAS was noted in the Woodard Classification 1 cohort.Conclusions: PBS patients frequently have multiple congenital anomalies. Pulmonary complications are prevalent in the neonate while CKD (36%) is prevalent during late childhood. The risk of CKD increased significantly with the presence of other congenital anomalies in our cohort. Mortality in childhood is most common in infancy and may be as low as 27%. Contemporary management of PBS, including prenatal interventions, reduced the neonatal mortality rate in a subset of our cohort.

Penile strangulation is a rare condition in children caused by circumferential constriction of the coronal sulcus by constricting material, commonly thin maternal hair. Vague presenting symptoms often makes diagnosis difficult, but delay in diagnosis can lead to a variety of severe complications including urethral injury and penile necrosis. Providers must have a high index of suspicion and carry out a careful examination to identify maternal hair strands that may bury deep within penile edema. We describe two cases of penile strangulation secondary to maternal hair strands that were successfully treated with thorough examination and division of the constricting hair in the emergency department. In both cases, presentation involved penile swelling and erythema which was noticed by caregivers. Once the diagnosis has been made, urgent treatment using depilatory cream or mechanical removal must occur, with urgent referral to specialists if unable to remove to constricting material. Caregivers must also be counseled on appropriate steps to prevent penile hair tourniquet syndrome. Devastating complications can be avoided by early recognition and proper management of the syndrome, but providers must have knowledge of the condition and a high index of suspicion.