Molecular Biophysics
Bladder Cancer in a Long-term Survivor of the Prune Belly Syndrome
Prune belly syndrome (PBS) is a rare but morbid complexity of congenital anomalies that consists of abdominal wall defect, bilateral cryptorchidism, and urinary tract dilation. With the recent advances in perinatal care, the life expectancy of patients with PBS has improved. Although renal and sexual outcomes are frequently discussed in the literature, little is known about urinary tract malignancies in adulthood. Herein, we present a case of advanced bladder cancer in a 38-year-old man with PBS.Ovotesticular Disorder Mimicking Acute Spermatic Cord Torsion
Ovotesticular disorder is a rare form of sexual development in which a patient may have one ovary and one testis, or more commonly a gonad or gonads containing both ovarian and testicular tissue. Patients with this condition typically present in infancy with ambiguous genitalia. Delayed presentations of clinically symptomatic, older patients with normal external genitalia are extremely rare. We present a case of a 14-year-old male with normal external genitalia who presented with symptoms and signs consistent with spermatic cord torsion but found to have ovotesticular disorder on evaluation.Persistent Anhydramnios and Lower Urinary Tract Obstruction in a Patient With a Vesicoamniotic Shunt
Persistent anhydramnios after placement of a vesicoamniotic shunt is a rare but potentially serious concern in a patient in utero. We present the case a male fetus who at 32-week gestation had bilateral hydroureteronephrosis, a distended bladder, and anhydramnios. A vesicoamniotic shunt was placed, but the anhydramnios persisted. Postnatally, the child was found to have a migrated shunt, left grade V vesicoureteral reflux and posterior urethral valves. He underwent a posterior urethral valves ablation and removal of the migrated shunt.Bedside Intervention for Neonatal Hydrometrocolpos and Imperforate Hymen
Low complexity cases of neonatal hydrometrocolpos from imperforate hymen are typically treated with hymenotomy or hymenectomy. Although this is commonly performed in the operating room, bedside management is also safe and effective. We present a case of prenatally diagnosed, simple hydrometrocolpos treated via bedside hymenotomy on the first day of life. The patient received periprocedural antibiotics prior to the procedure and had full resolution of hydrometrocolpos without any complication or need for further intervention.Nephron-Sparing Approach For Familial Bilateral Synchronous Wilms Tumors
Wilms tumors are the most common renal malignancy of childhood, often presenting as asymptomatic abdominal masses. These tumors can occur either in a unilateral or bilateral fashion, with bilateral tumors more commonly associated with various genetic syndromes and familial inheritance with some known loci. Bilateral tumors present challenges with regards to balancing oncologic control with renal function. Here, we present an unusual case of a young female patient diagnosed with bilateral Wilms tumors on the background of a strong family history and unknown genetic loci.Congenital Giant Megaureter in a 16-Year-Old Female Presenting With Abdominal Pain: A Case Report and Review of Literature
We describe a case of congenital giant megaureter in a 16-year-old female. She presented with a 5-day history of abdominal distention, right flank pain and tenderness. Right pyelonephritis was suspected. Computerized tomography showed a large cystic abdominal mass with no appreciably functioning left kidney causing secondary compression of the contralateral right ureter. A left upper nephroureterectomy was performed, draining over 3.5 L of fluid. Our experience suggests that congenital giant megaureter should be considered in the differential for pediatric patients presenting with a cystic abdominal mass.Whole Exome Sequencing Identifies a Rare Mutation in NACAD as a Possible Cause of COVID Orchitis in Brothers
COVID orchitis (testicular pain) is reported in 10-15% of men with long COVID. We identified 2 siblings with COVID orchitis and hypothesized that genetic mutations are associated with susceptibility. Blood samples from 5 COVID-19 (+) men, three of whom had orchitis were evaluated by whole-exome-sequencing. A rare deletion on chromosome 7 was found in NACAD among the 3 men with orchitis. Interestingly, circulating ACE2 levels was decreased in men with COVID orchitis. This pilot study generated the hypothesis that men who develop COVID orchitis could have underlying genetic variants and altered levels in circulating ACE2 that may increase their risk.Pediatric Penile Non-Involuting Congenital Hemangioma With an Associated Pyogenic Granuloma: Surgical Management of a Rare Vascular Anomaly
Vascular anomalies include both tumors and malformations. Infantile hemangiomas are the most common benign vascular tumor of infancy that proliferate after birth and eventually involute. By contrast, congenital hemangiomas are formed at birth and are categorized into three groups: rapidly involuting, partially-involuting, and non-involuting congenital hemangiomas (NICH). NICH do not regress and grow with age. Pyogenic granulomas, another acquired vascular tumor, develop over vascular lesions and cause bleeding.Misdiagnosis of Congenital Posterior Urethroperineal Fistula and Comparison With Urethral Duplications and Rectourethral Fistula
Congenital posterior urethroperineal fistula (CUPF) is a urothelium-lined tract between the posterior urethra and perineum. This condition is rare and has been proposed to be a urethral duplication variant. A case of CUPF that was misdiagnosed and surgically treated as a rectourethral fistula is presented. The clinical presentation, diagnosis, and treatment of CUPF are discussed and compared with those of Y-type urethral duplications and H-type rectourethral fistulas.Fluorescent Guided Lymph Node Harvest in Laparoscopic Wilms Nephroureterectomy
Lymph node harvest is an integral part of Wilms tumor surgery with both SIOP and COG protocols asking for more than 6 lymph nodes to best evaluate for nodal spread and a subsequent need for intensification of treatment. The majority of studies show that in both open and minimally invasive resections the median number of nodes removed is 4. Indocyanine green and near infrared fluorescence may be the key to solving this problem. In adult gynaecology, colorectal and breast cancers, ICG is used to identify sentinel nodes and facilitate nodal retrieval.
