Association between NDUFS1 from urinary extracellular vesicles and decreased differential renal function in children with ureteropelvic junction obstruction.

BACKGROUND: Ureteropelvic junction obstruction (UPJO) is the most common cause of pediatric congenital hydronephrosis, and continuous kidney function monitoring plays a role in guiding the treatment of UPJO. In this study, we aimed to explore the differentially expressed proteins (DEPs) in the urinary extracellular vesicles(uEVs) of children with UPJO and determine potential biomarkers of uEVs proteins that reflect kidney function changes. METHODS: Preoperative urine samples from 6 unilateral UPJO patients were collected and divided into two groups: differential renal function (DRF) ≥ 40% and DRF < 40%.We subsequently used data-independent acquisition (DIA) to identify and quantify uEVs proteins in urine, screened for DEPs between the two groups, and analyzed biofunctional enrichment information. The proteomic data were evaluated by Western blotting and enzyme-linked immunosorbent assay (ELISA) in a new UPJO testing cohort. RESULTS: After one-way ANOVA, a P adj value < 0.05 (P-value corrected by Benjamin-Hochberg) was taken, and the absolute value of the difference multiple was more than 1.5 as the screening basis for obtaining 334 DEPs. After analyzing the enrichment of the DEPs according to Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment combined with the protein-protein interaction (PPI) network results, we selected nicotinamide adenine dinucleotide-ubiquinone oxidoreductase core subunit S1 (NDUFS1) for further detection. The expression of NDUFS1 in uEVs was significantly lower in patients with DRF < 40% (1.182 ± 0.437 vs. 1.818 ± 0.489, P < 0.05), and the expression level of NDUFS1 was correlated with the DRF in the affected kidney (r = 0.78, P < 0.05). However, the NDUFS1 concentration in intravesical urine was not necessarily related to the change in DRF (r = 0.28, P = 0.24). CONCLUSIONS: Reduced expression of NDUFS1 in uEVs might indicate the decline of DRF in children with UPJO.

Widening of narrow urethral plates with lateral skin in TIP hypospadias repair: single center series.

BACKGROUND: To compare the outcomes of hypospadias repair using tubularized incised plate (TIP) urethroplasty and modified TIP with lateral skin to widen the urethral plate (WTIP). MATERIALS AND METHODS: Data were obtained from pre-pubertal boys who underwent primary hypospadias repair between May 2018 and July 2023. The cases were divided into two groups; one group underwent TIP with urethral plate ≥ 6 mm width and the other group with urethral plate width < 6 mm underwent WTIP. WTIP urethroplasty was performed by widening incisions on the outer margins of the urethral plate to incorporate penile and glandular skin lateral to the urethral plate to facilitate tubularization. Complication rates and urinary functions were compared. RESULTS: A total of 157 patients were enrolled in this study. Eighty-eight cases with narrow urethral plate were subjected to WTIP urethroplasty, and the rest were subjected to TIP urethroplasty. The preoperative glans width in WTIP group was less than that in TIP group (P < 0.001), and 44.3% had midshaft meatus in WTIP group compared to 17.4% in TIP group (P < 0.001). However, the incidences of postoperative complications (17.6% vs. 21.6%, P = 0.550) were not statistically different between the TIP and WTIP groups. In addition, both groups did not differ significantly in postoperative uroflowmetry assessment. CONCLUSIONS: The described technique helps to create an adequately caliber aesthetic neomeatus and facilitates tubularization, especially in hypospadias with a narrow urethral plate. Our data suggest that augmentation of a narrow urethral plate with WTIP has a similar surgical outcome to that of the TIP procedure in patients with a wide urethral plate.

The influence of manual segmentation strategies and different phases selection on machine learning-based computed tomography in renal tumors: a systematic review and meta-analysis.

BACKGROUND: Delineating the region/volume of interest (ROI/VOI) and selecting the phases are of importance in developing machine learning (ML). The results will change when choosing different methods of drawing the ROI/VOI and selecting different phases. However, there is no related standard for delineating the ROI/VOI and selecting the phases in renal tumors to develop ML based on computed tomography (CT). METHODS: The PubMed and Web of Science were searched for related studies published until March 1, 2023. Inclusion criteria were studies that developed ML models in renal tumors from CT images. And the binary diagnostic accuracy data were extracted to obtain the outcomes, such as sensitivity (SE), specificity (SP), accuracy (ACC), and area under the curve (AUC). RESULTS: Twenty-three papers were included in the meta-analysis with a pooled SE of 87% (95% CI 85-88%), SP of 82% (95% CI 79-85%), and AUC of 91% (95% CI 89-93%) in phases; a pooled SE of 82% (95% CI 80-84%), SP of 85% (95% CI 83-86%), and AUC of 90% (95% CI 88-93%) in phases combined with delineating strategies, respectively. In all different combinations, the contour-focused and single phase produce the highest AUC of 93% (95% CI 90-95%). In subgroup analyses (sample size, year of publication, and geographical distribution), the performance was acceptable on phases and phases combined strategies. CONCLUSIONS: To explore the effect of manual segmentation strategies and different phases selection on ML-based CT, we find that the method of single phase (CMP or NP) combined with contour-focused was considered a better strategy compared to the other strategies.

The application of machine learning based on computed tomography images in the identification of renal tumors in children.

Background: The clinical manifestations of Wilms tumor and non-Wilms tumor in children are similar, and the only way to confirm the diagnosis is by postoperative pathology. Computed tomography (CT) is one of the main methods for preoperative diagnosis of the two, but it is also difficult to distinguish because it is easily affected by the subjective influence and the experience of the radiologists. Methods: The CT images of 82 children with renal tumors admitted to the Department of Pediatric Urology, Shandong Provincial Hospital from January 2011 to March 2022 were retrospectively analyzed. First, we drew the two-dimensional (2D) region of interest (ROI) of the largest cross-section on the corticomedullary phase (CMP) and nephrogenic phase (NP) images, and extracted seven types of 107 features in the ROI. Then, the texture features with similarity greater than 95% and repetition less than 90% were screened out, and the remaining texture features were further screened by analysis of variance (ANOVA) and recursive feature elimination (RFE). Finally, 15 texture feature were used to build the machine learning (ML) models. We used the synthetic minority oversampling technique (SMOTE) and 10-fold cross-validation to build ML models and verified them in the training, testing, and internal validation sets. The area under the receiver-operating characteristic curve (AUC) and calibration curve were used to evaluate the diagnostic performance. Results: We collected 77 CMP and 81 NP images, which were randomly divided into the training set and the testing set according to the ratio of 7:3. In the internal validation of CMP, the Mean-PCC-ANOVA-5-AE pipeline model achieved the highest AUC 0.792 [95% confidence interval (CI): 0.653-0.930], and its accuracy (ACC), sensitivity (SEN), and specificity (SPE) were 0.833, 0.539 and 0.927, respectively. Correspondingly, in NP, the Mean-PCC-ANOVA-2-LR pipeline model achieved the highest AUC 0.655 (95% CI: 0.485-0.82) in the internal validation. The ACC, SEN, and SPE were 0.696, 0.539, and 0.744, respectively. Conclusions: The ML models based on CT images have good diagnostic efficiency in differentiating Wilms tumors from non-Wilms tumors in children.

Rare pediatric synchronous bilateral testicular germ cell tumors of different pathological types: a case report.

The occurrence of synchronous bilateral testicular germ cell tumors (BTGCTs) of different pathologic histologic types in pediatric patients is rare. We reported a case of a left testicular yolk sac tumor (YST) combined with a right testicular mature teratoma. Left orchiectomy and right testis-sparing surgery were performed. Retroperitoneal recurrence was noted 6 months after surgery. The patient underwent reoperation for the resection of a retroperitoneal mass, which was pathologically diagnosed as a recurrent YST. A full cycle of chemotherapy was then administered. No tumor metastasis or recurrence has yet been detected. We present this new case, and we review the previous literature on synchronous BTGCTs to explore the clinicopathologic features and summarize the diagnostic and therapeutic experience. Radical orchiectomy, as the standard treatment for YSTs, should be considered with caution in patients with bilateral testicular tumors. Rapid intraoperative frozen pathology provides support for timely surgical planning. In patients with intraoperative frozen pathologic specimens suggestive of benign lesions, testis-sparing surgery is the preferred treatment option.

The underlying molecular mechanism of ciliated epithelium dysfunction and TGF-ß signaling in children with congenital pulmonary airway malformations.

The aim of this study was to investigate the variation in gene expression in the complete transcripts of Congenitalpulmonary airwaymalformation (CPAM) of the lung using Next Generation Sequencing (NGS) technology. There were 20 cases involving children with CPAM were used for selection of study sample. NGS was used to establish RNA-Seq libraries for the two groups of samples separately, and both groups were conducted to differential expression analysis and Gene Ontology (GO) functional enrichment analysis. The pathways of the differential genes were analyzed to find the enriched target pathways. A total of 592 genes were expressed with significant differences (CPAM vs. normal tissue, P < 0.05). GO functional analysis of DEGs indicated that abnormal ciliary function played a role in the development of CPAM. Subsequently, analysis of these genes pathways showed the TGF-ß signaling pathway was significantly enriched. Finally, the results of immunohistochemical analysis of some DEGs showed that a significant reduction in the expression of SMAD6, a gene related to the TGF-ß signaling pathway, led to abnormal activation of the pathway. TGF-ß signaling pathway involved in the evolution of the disease obtained by DEGs enrichment pathway analysis. SMAD6, a gene involved in this pathway, might be a potential biomarker for the diagnosis and treatment of CPAM.

Ossifying renal tumor of infancy: a case report.

Ossifying renal tumor of infancy (ORTI) is an extremely rare benign renal solid tumor with typical clinical and pathological features. Most cases are diagnosed in infants that are less than 12 months of age and is more common in males. The first symptom in most patients is painless gross hematuria. Microscopically, the tumor has three main components: an osteoid core, osteoblast-like cells, and spindle cells. We reported a case of a 21-day-old patient diagnosed with ORTI who underwent partial nephrectomy and had good follow-up. The unique features of this case are the strong expression of Wilms Tumor-1 (WT-1) and a high Ki-67 index in the hot spot area. ORTI is considered to have a favorable prognosis. Due to the rarity of WT-1 positivity and high Ki-67 index, we should be highly aware that this patient needs to be followed closely. In addition, we reviewed the available literature on ORTI, with the aim of summarizing the diagnostic and therapeutic experience. The diagnosis needs to be given cautiously on the basis of clinical symptoms, imaging, and pathologic examination. Depending on the location and extent of the tumor, surgery can be performed by partial nephrectomy or nephrectomy to avoid overtreatment.