Urological Evidence of Tick Bites in Children.

ABSTRACT: Ticks pose a serious threat to individuals of all ages owing to numerous physical illnesses including chills, aches, and a rash. Tick-borne illnesses range from a mild fever that may be treated at home to a severe disease necessitating hospitalization. Children are at an increased risk of tick bites owing to to their exposure to tick-infested areas during the summer. We report 2 cases of boys aged 3 and 8 years who sustained tick bites to the hemiscrotum and penis. Overnight hospitalization and a course of antibiotics were mandatory. In the first case, the child experienced significant scrotal cellulitis with erythema and edema extending to the suprapubic area with induration of the right anterior scrotum at the site of the tick bite. A scrotal ultrasound demonstrated swelling of the scrotal wall. In the second case, considerable swelling and induration of the distal penis and glans, pruritis of the left groin and penis, and an erythematous rash over the entire anterior pelvis were observed. A high index of suspicion is warranted because a tick bite may present as penile edema. Pediatric emergency physicians should be aware of the risks associated with tick bites and accurately diagnose and initiate treatment to prevent morbidity and mortality.

Cloacal Anomalies in Monoamniotic, Monochorionic Twins with Complete Urinary Tract Obstruction.

Cloacal anomalies (persistent cloaca) represent the most severe form of anorectal malformations in girls where the rectum, urethra, and vagina remain fused together inside the pelvis and drain into a single common perineal orifice. Infants with cloacal anomalies often succumb to poor lung development due to oligohydramnios. Cloacal anomaly in discordant monozygotic twins has rarely been reported in the literature. In this review, we present the first case of persistent cloaca and complete urinary tract obstruction in discordant monoamniotic twins.

Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report.

BACKGROUND: Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Inherited as an X-linked recessive genetic disorder that primarily affects males, patients with Lesch-Nyhan syndrome exhibit severe neurological impairments, including choreoathetosis, ballismus, cognitive dysfunction, and self-injurious behavior. Uric acid levels are usually abnormally high, leading to kidney and bladder stones which often necessitate urological intervention. Factor V Leiden is an autosomal dominant disorder of blood clotting associated with hypercoagulability, thrombophilia, and renal disease. CASE PRESENTATION: We present the first reported case of xanthine calculi in a patient with Lesch-Nyhan syndrome and Factor V Leiden who was treated with allopurinol. A renal ultrasound and CT scan demonstrated bilateral staghorn calculi in the kidneys as well as nephrocalcinosis. Two years earlier the patient underwent cystoscopy with bilateral ureteroscopy and laser lithotripsy, and he was stone free afterwards. The patient subsequently underwent bilateral percutaneous nephrolithotomy (PCNL) and was stone free following the procedure. Patients with endogenous overproduction of uric acid who are being treated with allopurinol have a higher chance of developing xanthine stones. CONCLUSIONS: Pediatricians treating these children should be aware of these rare conditions and promptly manage the potential complications that may require medical or surgical intervention.

Predicting progression of bladder urothelial carcinoma using microRNA expression.

UNLABELLED: WHAT'S KNOWN ON THE SUBJECT? AND WHAT DOES THE STUDY ADD?: Recurrence and progression prediction in urothelial cancer is currently based on clinical and pathological factors: tumour grade, tumour stage, number of lesions, tumour size, previous recurrence rate, and presence of concomitant carcinoma in situ. These factors are not specific enough to predict progression and ∼50% of patients diagnosed as high risk in fact do not progress within 3 years. Patient follow-up is both expensive and unpleasant (frequent invasive cystoscopies). Molecular biomarkers, including microRNAs have been studied to provide additional prognostic information for these patients, but to date no molecular biomarker has become the 'gold standard' for patient diagnosis and follow-up. We used Rosetta Genomics' highly specific microRNA expression profiling platforms to study the prognostic role of microRNAs in bladder cancer. Using microdissection we chose specific tumour microRNAs to study in order to avoid background contamination. Tumour progression was associated with altered levels of microRNAs. In particular, high expression levels of miR-29c* were associated with a good prognosis. The study found that the use of microRNAs for determining progression and invasiveness for patients with urothelial cancer could potentially have a substantial impact on the treatment and follow-up individual patients. OBJECTIVE: To identify microRNAs that could be useful as prognostic markers for non-muscle-invasive (NMI) bladder carcinoma. PATIENTS AND METHODS: Formalin-fixed, paraffin-embedded samples of 108 NMI bladder carcinomas, and 29 carcinomas invading bladder muscle were collected, and microRNA expression levels were measured using microarrays. For 19 samples, microdissection was performed to compare microRNA expression between the tumour and surrounding tissue. MicroRNAs that were found to be unrelated to the tumour itself were excluded as potential prognostic markers. RESULTS: Expression profiles identified microRNAs that were differentially expressed in NMI tumours from patients who later progressed to carcinoma invading bladder muscle compared with NMI tumours from patients that did not progress. The microRNA profile of tumours invading the bladder muscle was more similar to that of NMI tumours from patients who later progressed, than to that of the same-stage NMI tumours from patients who did not later progress. The expression level of one microRNA, miR-29c*, was significantly under-expressed in tumours that progressed and could be used to stratify patients with T1 disease into risk groups. CONCLUSIONS: MicroRNAs can be useful biomarkers for prognosis in patients with urothelial carcinoma. In our study, expression levels of several microRNAs, including miR-29c* identified high- and low-risk groups. These biomarkers show promise for the stratification of patients with bladder cancer.

Differences in Clinical Characteristics Between Prepubescent and Postpubescent Males With Testicular Torsion.

Testicular torsion represents a pediatric surgical emergency. In this 6-year study with 140 patients, prepubescent (<13 years) and postpubescent (≥13 years) males with testicular torsion were identified. Prepubescent boys had a longer symptom duration (P = .016) and underwent more orchiectomies (P = .005) compared with postpubescent boys. The risk of orchiectomy decreased by 15% per 1-year increase in age (P = .002). Boys who underwent an orchiectomy had a longer symptom duration (P < .001), were younger (P = .002), had scrotal swelling (P = .001), scrotal erythema (P < .001), higher degrees of torsion (P = .036), and more left-sided surgeries (P = .014) compared with those who had an orchiopexy. Postpubescent boys were 63% less likely to receive an orchiectomy versus an orchiopexy compared with prepubescent boys. Pediatricians should be cognizant of the age discrepancies between prepubescent and postpubescent males with testicular torsion and educate parents about the importance of urgent evaluation in the Emergency Department to reduce the likelihood of an orchiectomy.

Cowper's gland syringocele in an adult: The great imitator.

Cowper's gland syringocele (CGS) is the cystic dilation of its duct. It is an uncommon urological condition and is thought to be more commonly encountered in pediatric urology. However, it is in adults that CGS poses a diagnostic challenge because of its "chameleon-like" clinical presentation that may masquerade multiple urological etiologies. In this population, where urological conditions are more prevalent, CGS may present as bladder outlet obstruction, recurrent urinary tract infections, gross hematuria, urinary retention, perineal pain, or abscess.

Amelanotic malignant melanoma of the penis. A case report and literature review.

Malignant melanoma (MM) of the penis represents an uncommon form of genitourinary malignancies, which account for about 1% of all cases of melanoma. Amelanotic malignant melanoma (AMM) lacks the pigmented elements, which is the hallmark of melanoma. This is a challenging diagnosis since confusion might be made with a variety of benign lesions, causing a delay in appropriate medical treatment. Taking into consideration that prognosis is the same for melanotic and amelanotic melanoma, early diagnosis is crucial. We describe a patient with amelanotic melanoma of the penis, treated with partial penectomy.

Impact of Distance From the Hospital and Patient Transfer on Pediatric Testicular Torsion Outcomes.

BACKGROUND: Testicular torsion is the most common pediatric emergency that requires prompt diagnosis and surgical treatment to prevent testicular loss. Distance from the hospital where the patient will be undergoing treatment for testicular torsion and transfer from an outside facility are factors that may impact whether a testis is salvageable. We sought to determine whether these factors play a role in pediatric testicular torsion outcomes.  Materials and Methods: We identified males aged 1-18 years with testicular torsion between January 1, 2015 and December 31, 2020. The patients' distance from our hospital and whether they were transferred from an outlying hospital were a particular focus.  Results: The number of miles from our hospital and transfer from an outlying hospital were not significantly different between boys who underwent an orchiectomy versus an orchiopexy (p=0.258 and p=0.574, respectively). The number of miles from our hospital was negatively correlated to age at surgery (rho=-0.22, p=0.01). Significantly (p<0.001) more transfers were seen in patients who lived far (>22.1 miles) from our hospital (32/69 (46%)) versus near our hospital (10/68 (15%)). For every mile boys lived from our hospital, there was no difference (adjusted odds ratio (OR)=0.98 (0.96, 1.00), p=0.10) in the likelihood of receiving an orchiectomy versus an orchiopexy when adjusting for age, symptom duration, and degrees of torsion. CONCLUSIONS: Our study determined that neither distance from our hospital nor transfer from an outlying hospital affected the orchiectomy rate. An expedited medical evaluation and surgery offer the best prognosis for salvaging the testes.

Sonography Findings Predict Testicular Viability in Pediatric Patients With Testicular Torsion.

BACKGROUND: Testicular torsion poses a pediatric surgical emergency that necessitates rapid diagnosis and surgery to prevent testicular loss. We sought to determine whether any particular findings on Doppler ultrasound (US) were predictive of testicular viability in pediatric patients with testicular torsion. MATERIALS AND METHODS: We identified males between ages one and 18 years who experienced testicular torsion over a six-year period (January 1, 2015-December 31, 2020). All patients were evaluated at our institution's emergency department by a pediatric urologist and underwent a Doppler scrotal US. RESULTS: Of the 140 patients with testicular torsion, 56 (40%) had a non-viable testis and underwent an orchiectomy, while 84 (60%) had a viable testis and orchiopexy. Testicular heterogeneity (47 [84%] vs 48 [57%], p = 0.001), epididymis heterogeneity (23 [41%] vs 21 [25%], p = 0.063), and scrotal wall thickening (25 [45%] vs 5 [6%], p < 0.001) were significantly associated with a non-viable testis. Epididymis heterogeneity (adj. odds ratio [OR] = 0.33 [0.13, 0.79], p = 0.013) and scrotal wall thickening (adj. OR = 0.08 [0.03, 0.24], p < 0.001) exhibited significantly lower odds for viability. Testicular heterogeneity and scrotal wall thickening were more likely to develop with a longer duration of symptoms (both p < 0.001). CONCLUSION: Our study determined that certain Doppler scrotal US findings, specifically, testicular and epididymal heterogeneity as well as a thickened scrotal wall, are associated with testicular demise in patients with testicular torsion. As testicular heterogeneity and scrotal wall thickening are more likely to arise with a longer symptom duration, an urgent diagnosis and prompt surgical intervention are imperative to avert testicular loss.

Surge in testicular torsion in pediatric patients during the COVID-19 pandemic.

BACKGROUND: Testicular torsion is a pediatric surgical emergency, and prompt diagnosis and treatment is imperative. During the COVID-19 pandemic, pediatric patients with symptoms of testicular torsion may be reluctant to seek medical care which increases the likelihood of delayed presentation and the need for an orchiectomy. This observational study sought to determine whether there was a higher number of testicular torsion cases during COVID-19. METHODS: As the first patient with COVID-19 was admitted to our facility on March 6, 2020, we identified male children ages 1-18 years with testicular torsion between March 1-December 31, 2020 (during COVID-19) compared to the same time period between 2015 and 2019 (prior to COVID-19). All patients were evaluated at our Institution's Emergency Department by a pediatric urologist. RESULTS: There were 38 cases of testicular torsion between March 1-December 31, 2020 compared to 15.8 cases on average during the same 10-month period between 2015 and 2019 (a total of 79 cases). There was a statistically significant increase in testicular torsion cases during the COVID-19 pandemic compared to equivalent time periods in 2015-2019 (38 vs. 15.8, p = 0.05). Patients with testicular torsion during the COVID-19 pandemic were younger, had a longer duration of symptoms, and had a higher number of orchiectomies (although not statistically significant). CONCLUSION: During the COVID-19 pandemic, an escalation in testicular torsion cases was observed. Timely assessment, diagnosis, and surgery are crucial to prevent testicular loss and potential infertility in the future. Further evaluation is needed to elucidate the surge in testicular torsion and possible mechanisms.

Nephrolithiasis during pregnancy: characteristics, complications, and pregnancy outcome.

PURPOSE: To evaluate obstetric complications and birth outcome in pregnant women with nephrolithiasis. METHODS: A retrospective population-based study comparing all pregnancies of women with and without nephrolithiasis between 1989 and 2010 was conducted. Clinical characteristics were compared, and the obstetric risk factors and labor complication were analyzed. Multivariable logistic regression models were constructed in order to identify independent risk factors for nephrolithiasis. RESULTS: During the study period, there were 219,656 deliveries, of which 195 women with nephrolithiasis were identified. Nephrolithiasis in pregnant women was significantly associated with recurrent abortions, mild preeclampsia, chronic hypertension, gestational diabetes mellitus, and cesarean deliveries. Nephrolithiasis was also significantly associated with urinary tract infections, pyelonephritis, hydronephrosis, and hydroureter. Nevertheless, no higher rates of premature rupture of membranes, preterm deliveries, or adverse perinatal outcomes (birth weight, Apgar scores or perinatal mortality) were noted in patients with nephrolithisais. Using a multiple logistic regression model, obesity (odds ratio 4.4, 95% confidence interval 2.1-9.0) and hypertensive disorders (odds ratio 2.8, 95% confidence interval 1.9-4.1) were independently associated with nephrolithiasis. CONCLUSION: Maternal kidney stones are significantly associated with several pregnancy complications, including recurrent abortions, hypertensive disorders, gestational diabetes, and cesarean deliveries. Nevertheless, it is not associated with adverse perinatal outcomes. These findings raise the question regarding the proper management of small asymptomatic kidney stone in a pregnant woman.

Testicular Torsion in Patients With Intellectual and Developmental Disabilities.

Patients with intellectual/developmental disabilities are at risk of delayed diagnosis of testicular torsion due to their inability to effectively communicate their symptoms. We identified males ages 1 to 18 years with testicular torsion between January 1, 2015 and December 31, 2020, focusing on patients with intellectual and/or developmental disabilities. Of the 140 patients with testicular torsion, 5 (3.6%) patients exhibited intellectual/developmental disabilities with an inability to effectively verbalize testicular/groin/scrotal pain. The patients with intellectual/developmental disabilities underwent more orchiectomies (5/5, 100%, P = .009) and had a longer duration of symptoms (median = 48 hours, P = .047) compared to those without intellectual/developmental disabilities (51/135, 38% and median = 9 hours, respectively) (51/134, 38%) (P = .038). Parents and other caregivers of males with intellectual/developmental disabilities who are unable to adequately verbalize their testicular/groin/scrotal pain should be cognizant of the signs and symptoms associated with testicular torsion, perform a genitalia examination, and seek an immediate evaluation to diagnose and treat this urgent condition.

Risk of occult spinal dysraphism based on lumbosacral cutaneous manifestations.

OBJECTIVES: Occult spinal dysraphism is a congenital failure of fusion of the posterior vertebral arches with intact skin overlying the defect. Lumbosacral cutaneous manifestations are associated with a variable risk of occult spinal dysraphism. Tethered cord syndrome is a type of occult spinal dysraphism that puts abnormal traction on the spinal cord. This study analyzed neonates and infants who were referred to our pediatric urology practice and had evidence of lumbosacral cutaneous manifestation on physical examination. METHODS: We reviewed the presence of lumbosacral cutaneous manifestations in neonates and infants evaluated in our pediatric urology clinic at our Institution over a 6-year period (1 March, 2015-28 February, 2021) with no prior diagnosis of lumbosacral cutaneous manifestation. All patients underwent a spinal ultrasound. RESULTS: The most common lumbosacral cutaneous manifestations were bifurcated/duplicated gluteal folds (33%), gluteal asymmetry (19%), and sacral dimples (14%). A total of 34 (24%) patients had an abnormal spinal ultrasound; 15 (44%) of these infants underwent a lumbar magnetic resonance imaging. A coccygeal pit was statistically marginally higher in abnormal versus normal spinal ultrasound (p = 0.07). Patients with only one lumbosacral cutaneous manifestation (N = 121) were significantly more likely to have a normal spinal ultrasound compared to those with two or more lumbosacral cutaneous manifestation (N = 17) (79% vs 53%, p = 0.03). CONCLUSION: Due to the varying risk of certain lumbosacral cutaneous manifestations with occult spinal dysraphism, all patients with a lumbosacral cutaneous manifestation should undergo spinal ultrasound. This study also highlights the importance of urodynamic studies when there are abnormal cutaneous findings. Routine physical examinations of the lumbar region for cutaneous manifestations of occult spinal dysraphism are vital to ensure prompt management of tethered cord syndrome and avoid potentially devastating consequences.

Conservative Management for Urethral Foreign Body: A Case Report of an Adolescent Boy With Repeated Events.

Placing foreign bodies into the urethra is not a common occurrence in the general population. Patients self-insert foreign bodies for a multitude of reasons such as sexual gratification, secondary gain, and psychiatric illness. From our own experience and what has been reported in the literature, there is a wide variability in the type of objects that patients place into the urethra. We report a unique case of a 17-year-old adolescent boy with repeated foreign body insertions into the urethra over a 1-year period. This patient suffers from significant psychiatric illness. Due to the number of events in this past year, we initiated a conservative observational approach that contrasts the traditional invasive protocol to treat with endoscopic removal. This management has proven to be successful in his case and can be replicated in other scenarios after careful consideration of the clinical presentation.

Case Report: Novel Copy Number Variant 16p11.2 Duplication Associated With Prune Belly Syndrome.

Prune belly syndrome (PBS) is a rare congenital disease that predominantly occurs in males and is identified by its classic triad of abdominal wall musculature deficiencies, cryptorchidism, and urinary tract abnormalities. However, numerous anomalies involving the kidneys, heart, lungs, and muscles have also been reported. A multitude of chromosomal abnormalities have been implicated in its pathogenesis. PBS can occur in association with trisomy 18 and 21. Gene duplications and deletions have also been reported; however, a definite cause of PBS is still unknown. We report the first PBS patient with a copy number variant in 16p11.2.

Case Report: Rare Presentation of Mixed Germ Cell Tumor in an Infant.

The estimated incidence of pediatric testis tumor is 0.5-2.0 per 100,000 children, accounting for 1-2% of all pediatric tumors. Mixed germ cell tumors (MGCT) in prepubertal males are exceedingly rare, with only one previous case report found in the literature. We report a case of a MGCT in an infant. For prepubertal males, GCTs typically present with a painless scrotal mass, though trauma, testis torsion and hydrocele are also common presentations. Similar to such tumors in postpubertal males, ultrasonography, computed tomography, and tumor markers are integral to determine the best treatment. The patient described in this report presented with a painless scrotal mass. Following orchiectomy, the patient was found to have MGCT that was limited to the testis. With prudent management, these patients tend to have favorable prognoses.

Bilateral aniridia and congenital ureteral valve: Role of genetic testing.

BACKGROUND: Congenital aniridia involves total or partial hypoplasia of the iris and is due to a deficiency in PAX6 gene expression. WAGR syndrome is comprised of Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. Numerous genitourinary pathologies may be associated with WAGR syndrome, necessitating an evaluation of the genitourinary anatomy. The WT1 is vital for the development of kidneys, ovaries in females, and testes in males. WT1 gene mutations result in a WT1 protein with a decreased ability to bind to DNA, leading to uncontrolled growth, and cell division in the kidney which permits the development of Wilms tumor. A congenital ureteral valve is an exceedingly rare cause of obstructive uropathy. RESULTS: A renal and bladder ultrasound demonstrated a renal cyst. A voiding cystourethrogram revealed grade 3 vesicoureteral reflux, and a MAG3 renal scan showed ureteropelvic junction obstruction and hydronephrosis. A ureteral stent was inserted at 3 months of age after which the renal cyst resolved. The patient was urinary tract infection-free at 27 months of age. Genetic testing confirmed a heterozygous alteration in PAX6 (c.495delG, p.Thr166Leufs*41) and no abnormalities of WT1, excluding WAGR syndrome. CONCLUSION: The genitourinary risks potentially associated with aniridia necessitate prompt genetic analysis to evaluate for WAGR syndrome.

Case Report: Penile Strangulation Secondary to Hair Tourniquet.

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.

Challenges in the Prenatal Diagnosis of Cloaca.

BACKGROUND: Cloaca is a common excretory channel for the genital, urinary, and gastrointestinal tracts. It is considered a severe anorectal malformation caused by failed partitioning of the genital, rectal, and urinary tracts. METHODS: We report 5 infants with cloaca at birth who were identified prenatally by one or more of the following on prenatal ultrasound (US): ambiguous genitalia, a cystic pelvic/abdominal mass, hydronephrosis, ascites, a single umbilical artery, and oligohydramnios. RESULTS: A cystic pelvic/abdominal mass and ambiguous genitalia were each observed in 3 cases by prenatal US. Ambiguous genitalia was observed in all 5 neonates at birth. There were 2 twin pregnancies (dichorionic/diamniotic and monochorionic/monoamniotic), with only 1 twin in a set affected with cloaca. CONCLUSION: Pediatricians should be alert to the prenatal US findings that may raise suspicion of a persistent cloaca to improve both prenatal counseling and family preparation.

Delayed Presentation of Urethral Valves: A Diagnosis That Should Be Suspected Despite a Normal Prenatal Ultrasound.

Background. Congenital urethral obstruction occurs most frequently as a result of urethral valves. The diagnosis is usually confirmed pre- or neonatally. Though not ideal, delayed diagnosis can occur in childhood, adolescence, or adulthood. Despite a normal prenatal ultrasound, there may still be a delayed diagnosis of urethral valves. Methods. We present 4 patients with delayed diagnosis of posterior urethral valves (PUV) and 1 patient with delayed diagnosis of anterior urethral valves (AUV) who were evaluated by a pediatric urologist at our Institution. We determined the age and symptoms at presentation, physical examination, micturating cystourethrogram (MCU) findings prior to the valve ablation, renal function before and after valve ablation, type of valve ablation, and urine culture and sensitivity. The urological courses following urethral valve ablation including urodynamic study findings are described. Results. The median age at presentation was 33 months. All 5 patients presented with decreased urine output and urinary retention. All 5 patients underwent a MCU that demonstrated bladder trabeculations (3 cases), vesicoureteral reflux (3 cases), and bladder diverticula (2 cases). A urethral valve ablation was performed in all cases. Four patients underwent a renal function panel prior to this procedure, and their serum BUN/creatinine levels decreased 1 day postoperatively. Conclusion. Pediatricians should consider urethral valves as causing urethral obstruction although the prenatal ultrasound may be normal. Early diagnosis and prompt treatment of urethral valves may mitigate the potentially devastating morbidities such as renal failure, congestive heart failure, and respiratory distress that may ensue.