Renal Medullary Carcinoma: The Zebra Amongst the Horses.

A 13-year old Latino male presented with recurrent gross hematuria, 5cm right-sided poorly defined heterogeneous mass, enlarged retrocaval lymph nodes, and 1.2 cm paratracheal lymph node. Given the need for multiple blood transfusions, robot-assisted radical nephrectomy with lymph node dissection was performed.

Urologic manifestations of hypotonia, ataxia, and delayed development syndrome (HADDS), a rare neurodevelopmental disorder.

Introduction: Early B-cell factor 3 (EBF3) is a transcription factor involved in neuronal differentiation and maturation. Pathogenic variants are associated with hypotonia, ataxia, and delayed development syndrome (HADDS) (MIM#617330). Urologic manifestations are common and may have implications regarding long term renal function.

Testicular relapse of acute lymphoblastic leukemia.

Contemporary chemotherapy regimens have led to improved survival and decreased incidence of testicular relapse for pediatric patients with acute lymphoblastic leukemia (ALL). Local therapies to the testes, such as radiotherapy and orchiectomy, are often not necessary given that high-dose chemotherapy agents can overcome the relative blood-testis barrier. However, urologists should be aware of clinical scenarios involving ALL which still warrant testicular biopsy to guide management.

Ureteral stent extraction strings in children: Stratifying the risk of post operative urinary tract infection.

Introduction: Ureteral stents facilitate recovery and avoid external drains in pediatric ureteral reconstruction. Extraction strings avoid the need for a secondary cystoscopy and anesthetic. Due to concerns regarding febrile UTIs in children with extraction strings, we retrospectively assessed the relative risk of UTI in children with extraction strings.

Clinical utility and interrater reliability of video urodynamics in children with isolated fibrolipoma of filum terminale.

Introduction: Children with an isolated fibrolipoma of filum terminale (IFFT) but otherwise normal spinal cord are often evaluated with video urodynamics (VUDS). VUDS interpretation is subjective and can be difficult in young children. These patients may undergo detethering surgery if there is concern for current or future symptomatic tethered cord.

Granular cell tumor in the scrotum of a pediatric patient: A case report of a rare clinical entity.

Granular cell tumors are rare tumors of Schwann cell origin that present in any anatomic location, age or sex. We present a case of a granular cell tumor in the scrotum of a prepubescent male. The tumor was excised, with histology revealing abundant eosinophilic cytoplasm and positive S-100 staining.

Urethral pyogenic granuloma in a pediatric patient.

Pyogenic granuloma, also known as lobular capillary hemangioma, is a benign vascular tumor rarely found in the genitourinary tract. Here, we present a case of a 6-year-old boy presenting with gross hematuria who was found to have a mass at the bladder base on ultrasound. Endoscopic resection was performed, revealing the base of the mass originating from the prostatic urethra.

Robot assisted laparoscopic partial cystectomy for inflammatory myofibroblastic tumor with simultaneous intraoperative flexible cystoscopy for tumor mapping.

Bladder masses are an infrequent occurrence rarely suspected in cases of pediatric hematuria. Inflammatory myofibroblastic tumors represent one differential diagnosis that is difficult to characterize as purely benign and should therefore be given special consideration. Although uncommon, this is an important entity to recognize for potential bladder sparing and minimally invasive surgical approaches.

SIRT1 enzymatically potentiates 1,25-dihydroxyvitamin D signaling via vitamin D receptor deacetylation.

The hormonal metabolite of vitamin D, 1,25-dihydroxyvitamin D (1,25D), binds to the vitamin D receptor (VDR) and promotes heterodimerization of VDR with a retinoid-X-receptor (RXR) to genomically regulate diverse cellular processes. Herein, it is revealed for the first time that VDR is post-translationally acetylated, and that VDR immunoprecipitated from human embryonic kidney (HEK293) cells displays a dramatic decrease in acetylated receptor in the presence of 1,25D-ligand, sirtuin-1 (SIRT1) deacetylase, or the resveratrol activator of SIRT1. To elucidate the functional significance of VDR deacetylation, vitamin-d-responsive-element (VDRE)-based transcriptional assays were performed to determine if deacetylase overexpression affects VDR/VDRE-driven transcription.

Resveratrol potentiates vitamin D and nuclear receptor signaling.

The 1,25-dihydroxyvitamin D3 (1,25D) hormone is derived from vitamin D generated in skin or obtained from the diet, and binds to and activates the vitamin D receptor (VDR) in target tissues including kidney, colon/small intestine, and bone/muscle. We tested resveratrol for its ability to modulate VDR signaling, using vitamin D responsive element (VDRE) and mammalian 2-hybrid (M2H) transcriptional system technology. Via VDRE-based assays in kidney, colon and myoblast cells, VDR-mediated transcription was activated by resveratrol, and a cooperative effect on transactivation was observed with resveratrol plus 1,25D.

Regulation of late cornified envelope genes relevant to psoriasis risk by plant-derived cyanidin.

The PSORS4 genetic risk factor for psoriasis is a deletion of two late cornified envelope (LCE) genes (LCE3C_LCE3Bdel) in a cluster of five LCE3 genes with a proposed role in skin repair. We previously showed that 1,25-dihydroxyvitamin D3 (1,25D) modestly upregulates transcripts from all five LCE3 genes as monitored by real time PCR in primary human keratinocytes. Herein we report that cyanidin, a plant-derived compound with anti-inflammatory/anti-oxidant properties, upregulates expression of all five LCE3 genes in cultures of differentiating primary human keratinocytes to a greater extent that does 1,25D.

Control of late cornified envelope genes relevant to psoriasis risk: upregulation by 1,25-dihydroxyvitamin D3 and plant-derived delphinidin.

Psoriasis is a chronic inflammatory skin disease featuring abnormal keratinocyte proliferation and differentiation. A genetic risk factor for psoriasis (PSORS4) is a deletion of LCE3B and LCE3C genes encoding structural proteins in terminally differentiated keratinocytes. Because analogs of 1,25-dihydroxyvitamin D3 (1,25D) are used in psoriasis treatment, we hypothesized that 1,25D acts via the vitamin D receptor (VDR) to upregulate expression of LCE 3A/3D/3E genes, potentially mitigating the absence of LCE3B/LCE3C gene products.

Synthesis and biological evaluation of halogenated curcumin analogs as potential nuclear receptor selective agonists.

This report describes the synthesis of analogs of curcumin, and their analysis in acting as nuclear receptor specific agonists. Curcumin (CM), a turmeric-derived bioactive polyphenol found in curry, has recently been identified as a ligand for the vitamin D receptor (VDR), and it is possible that CM exerts some of its bioeffects via direct binding to VDR and/or other proteins in the nuclear receptor superfamily. Using mammalian-two-hybrid (M2H) and vitamin D responsive element (VDRE) biological assay systems, we tested CM and 11 CM synthetic analogs for their ability to activate VDR signaling.