Botryoid Wilms Tumor with Left-Sided Inferior Vena Cava: A Case Report.

Wilms tumor (WT) is the second most common solid tumor in pediatric population. Botryoid WT is an uncommon growth pattern of WT, which is characterized by tumor extension into collecting system. A case of a 27-month-old boy with botryoid WT and left-sided inferior vena cava is reported in this article to emphasize the importance of preoperative imaging in preoperative planning.

Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients.

BACKGROUND: Hypospadias is a congenital anomaly of the male urogenital system. Genetics factors play an important role in its pathogenesis. To search for potential causal genes/variants for hypospadias, we performed exome sequencing in a pedigree with three patients across two generations and a cohort of 49 sporadic patients with hypospadias. RESULTS: A novel BRAF variant (NM_004333.6: c.362C > A) was found to co-segregate with the hypospadias phenotype in the disease pedigree. In cells overexpressing the BRAF mutant, the phosphorylation level of p38 MAPK was significantly increased as compared with the cells overexpressing the wild-type BRAF or RASopathy-related BRAF mutant. This variant further led to a reduced transcription level of the SRY gene, which is essential for the normal development of the male reproductive system. In the cohort of sporadic patients, we identified two additional variants in p38 MAPK signaling-related genes (TRIM67 and DAB2IP) potentially associated with hypospadias. CONCLUSION: Our study expands the phenotypic spectrum of variants affecting p38 MAPK signaling toward the involvement of hypospadias.

Quantitative assessment of renal perfusion in children with UPJO by contrast enhanced ultrasound: A pilot study.

BACKGROUND: Contrast-enhanced ultrasound (CEUS) is a new potential modality for the quantitative evaluation of the microvascular perfusion of a parenchymal organ. OBJECTIVE: To prospectively and quantitatively analyse the role of CEUS in evaluating renal perfusion for assessing renal function in children with ureteropelvic junction obstruction (UPJO). METHODS: The study protocol was approved by the local ethics committee, and written informed consent was obtained from the patients' parents or guardians. Ultrasonography, CEUS, and radioisotope renography were performed for 51 children (42 boys, 9 girls; mean age, 6.75 ± 4.14 years) with unilateral UPJO. The slope of the ascending curve (A), time to peak (TTP), peak intensity (PI), and area under the curve (AUC) were recorded during CEUS; quantitative data were calculated by QLab system (semiautomated border tracking, Philips Healthcare) software. Sensitivity and specificity values were determined for CEUS with respect to radioisotope renography. RESULTS: CEUS was used to evaluate 102 kidneys in 51 patients, for which the perfusion time-intensity curve (TIC) was determined. The TIC of renal cortical perfusion in all groups showed an asymmetrical single-peak curve, which could be clearly distinguished between the experimental group and the control group. Compared with the control group, the experimental group showed a markedly prolonged TTP but a significantly decreased A (P < 0.05). There was no significant correlation between the AUC, PI and differential renal function (DRF), but the correlation coefficient between TTP, A and DRF remained significant (p < 0.001).The receiver operating characteristic (ROC) curves drawn to differentiate DRF using the TTP value yielded an area under the ROC curve (AUROC) of 0.86. For a quantitative assessment of DRF less than 40% by CEUS, the sensitivity and specificity values were 92.86% and 76.14%, respectively. DISCUSSION: Unlike in previous studies, no significant difference in the AUC or PI was found between the control group and the experimental group in this study (P > 0.05). Renal blood perfusion could not be evaluated overall by CEUS. Parenchymal thinning may be considered a limitation to CEUS. CONCLUSIONS: This preliminary experience represents the first report of evaluating the diagnostic value of CEUS in assessing renal function in children with UPJO. CEUS is a highly sensitive, rapid, and cost-effective diagnostic imaging modality for detecting and monitoring renal function noninvasively.

LINC00667 promotes Wilms' tumor metastasis and stemness by sponging miR-200b/c/429 family to regulate IKK-ß.

Wilms' tumor, also known as nephroblastoma, is a kind of pediatric renal cancer. Previous studies have indicated that microRNAs (miRNAs) regulate various cancers progression. However, whether miR-200 family regulated Wilms' tumor progression remains to be elucidated. In our study, miR-200b/c/429 expression was downregulated in Wilms' tumor tissue samples from 25 patients. And data from three independent analyses of quantitative real-time polymerase chain reaction revealed that the expression of miR-200b/c/429 was downregulated in Wilms' tumor cell lines. Functionally, Cell counting kit-8 assay revealed that cell viability was reduced by overexpressing miR-200b/c/429. Transwell assay manifested that cell migration and invasion was hindered by miR-200b/c/429 overexpression. Sphere-forming and western blot assays demonstrated that miR-200b/c/429 overexpression suppressed the sphere formation ability. Mechanically, nuclear factor-κB (NF-κB) pathway was confirmed to be associated with Wilms' tumor progression; miR-200b/c/429 overexpression inactivated NF-κB pathway as miR-200b/c/429 was identified to target IκB kinase ß (IKK-ß), an NF-κB pathway-related gene. Moreover, miR-200b/c/429 was sponged by LINC00667 in Wilms' tumor cells. LINC00667 competitively bound with miR-200b/c/429 to regulate IKK-ß expression and then activated NF-κB pathway in Wilms' tumor. Subsequently, rescue assays illustrated that silencing of IKK-ß could reverse the effect of miR-200b/c/429 inhibition on the progression of sh-LINC00667-transfected Wilms' tumor cells. In summary, LINC00667 promoted Wilms' tumor progression by sponging miR-200b/c/429 family to regulate IKK-ß.

Use of Acellular Dermal Matrix for Urethroplasty Coverage in Proximal Hypospadias Repair: a Pilot Study.

INTRODUCTION: The complication rates of proximal hypospadias, especially fistula, are much higher than those of distal hypospadias. Urethral coverage is an effective method for reducing fistulas. Acellular dermal matrix (ADM) has been shown to exhibit structural compatibility and biocompatibility, both of which promote tissue healing. METHODS: The present non-randomized study evaluated the efficiency, feasibility, and safety of using ADM for urethroplasty coverage in patients with proximal hypospadias. This prospective study enrolled 35 patients (age range 15-60 months) with proximal hypospadias who underwent operation between September 2018 and March 2019 at Beijing Children's Hospital (Beijing, China). Urethroplasties were performed by the transverse preputial island flap (TPIF) technique. ADM was applied and sutured over the urethroplasty as an additional covering layer. Patient outcomes were compared with those of 80 non-matched control patients with proximal hypospadias who underwent the same procedure, with dartos as a covering layer. RESULTS: During a median follow-up of 11.56 months (range 9-15 months), urethral fistula occurred in six patients (17.1%) in the ADM group and 28 patients (35%) in the dartos group. Superficial wound infection was observed in six patients (17.1%) in the ADM group and 10 patients (12.5%) in the dartos group. One patient in the ADM group had diverticulum, compared with five patients (6.25%) in the dartos group. Meatal stenosis and urethral stricture were observed in four patients (11.4%) in the ADM group and six patients (7.5%) in the dartos group; all of these complications were treated conservatively. No glans dehiscence was observed in either group. CONCLUSION: Use of ADM may be a safe and efficient covering technique to provide an additional coverage layer for proximal hypospadias repair, thereby reducing the incidence of fistula formation, especially among patients who have poor-quality covering materials.