Journal of Pediatric Urology最新文献

Introduction: Complete disclosure of childhood genital surgery to patients with congenital adrenal hyperplasia (CAH) is a critical part of CAH care. There are no guidelines or uniform recommendations on the timing and content of surgical disclosure discussions.

Objective: Our objective was to describe the experiences and preferences of females with CAH and parents of females with CAH who underwent childhood genital surgery regarding surgical disclosure.

Methods: We conducted an anonymous cross-sectional online survey of females with CAH (46XX, ≥16 years [y] old) and parents of females with CAH who underwent genital surgery before age 4y in North America. Participants reported experiences, preferences, and advice about initial ("first time you were told") and complete disclosure ("told all details"). Non-parametric statistics and qualitative analysis were used.

Results: Participants included 59 females with CAH (median age: 37y, 92% White, 93% non-Hispanic) and 41 parents (median: 36y, 85% White, 93% non-Hispanic, daughter median: 26y). The 76% of females who received complete disclosure were younger (median age: 33y) and underwent surgery more recently (median decade: 1980s) than the 14% who received only initial disclosure (median: 47y, 1970s) and the 10% who did not receive any disclosure (median: 60y, 1960s, p = 0.0003, Summary Figure). Females reported median ages of initial and complete disclosure as 7-10y and 11-13y, respectively. Disclosure was preferred by 98% of females with initial disclosure by age 14y and complete disclosure by 18y. Parents reported similar findings. Most disclosures were by mothers (initial: 82%, complete: 64%). Doctors were more involved in complete vs. initial disclosures (complete: 47%, initial: 13%, p < 0.001). Qualitative analysis of advice about surgical disclosure revealed 8 themes.

Conclusions: Disclosure of childhood genital surgery to women with CAH has increased over time. Although timing of disclosure varied, women preferred disclosure, and that it be initiated before age 14y and completed by age 18y.

Introduction: Wilms tumor (WT) is the most common pediatric renal malignancy. Current guidelines that stratify WT risk and determine treatment courses are inadequate, as over 60 % of WT survivors develop treatment-related complications. Recently, numerous advances in establishing patient sub-groups with different clinical features have been realized by evaluating the adaptive immune receptor (IR) complementarity determining region-3 (CDR3) amino acid (AA) sequences, a reasonable series of successes, given the prominent role of the CDR3 in antigen binding, including tumor antigen binding. However, the possibility that adaptive IR chemical variability correlates with distinct survival outcomes for WT has not yet been explored.

Objective: The goal of this study was to isolate the T-cell receptor and B-cell receptor recombination, sequencing reads from WT RNAseq files, representing the actual tumor tissue, translate the sequences to AAs, identify the adaptive IR CDR3 domains, and determine whether the physicochemical properties of those CDR3 AA sequences correlated with survival probability distinctions.

Study design: WT RNA-seq files were mined to obtain the CDR3 AAs for various adaptive IRs. The physicochemical properties of these CDR3s were examined for trends in how those properties correlated with survival probabilities for WT patients, using a Kaplan-Meier analyses, verified via several approaches.

Results: The above processes indicated the association of the (a) IGL CDR3s' instability index and the (b) TRG CDR3s' fraction disorder promoting features with better outcomes. Additionally, the IGL CDR3 data were assessed using the Predictor of Natural Disordered Regions web tool, which strengthened the evidence for the association with the IGL CDR3 instability index with a better outcome.

Discussion: The approaches described here indicate that greater adaptive IR CDR3 instability and flexibility may serve as prognostic indicators; and may indicate the flexibility of CDR3 domains provides for greater opportunity to bind tumor antigens.

Conclusion: Further exploration and development of these approaches and findings may lead to new guidelines for more precise treatment regimens, or even watchful waiting periods, that could thereby decrease the lifetime occurrence of adverse events.

Background: Decreased bladder compliance is an important risk factor for upper urinary tract in children with neurogenic bladder dysfunction (NBD). Urodynamics is the gold standard in determining bladder compliance.

Objective: To investigate the relationship between low bladder compliance and urinary fibrosis markers in NBD.

Study design: Spina bifida patients with NBD, who admitted between March 2021 and July 2021 were included. Patients with low compliant bladders, no renal scar, no recurrent urinary tract infections formed low compliance, LC group. Normal compliance, NC group, was comprised of patients with normocompliant bladders and the same characteristics. Control group (Group C) consisted of patients for outpatient surgery and had no known bladder dysfunction. Compliance was calculated with the formula ΔV/ΔP and a value of under 15 ml/cmH2O was accepted as low. Age, gender, urine density, serum urea, creatinine levels and urodynamic parameters were noted. Urinary type 1, type 3 collagen and its precursor procollagen type 3 and serum type 1 and 3 collagen were determined by ELISA.

Results: 72 patients were included (LC group, n:31, NC group, n:24, C group n:17, mean age 7,39 ± 1,24 years). No significant difference was observed in the comparison of age, gender, urine density and serum urea and creatinine values. No significant difference was observed between the LC and NC groups for urodynamic parameters, except for bladder compliance. Urinary collagen type 1 in LC group (11,71 ± 3,02 ng/ml) was found to be significantly higher than that of the C group (9,45 ± 1,97 ng/ml) (p = 0,03). Urinary procollagen type 3 was significantly higher in LC group (103,15 ± 24 ng/ml) when compared to C group (82,42 ± 22,26 ng/ml) (p = 0.016). Urinary collagen type 1 level above 9.20 ng/ml was 80,6 % sensitive and 70,6 % specific and urinary procollagen type 3 level above 78 ng/ml was 87 % sensitive and 70,6 % specific in predicting low compliance.

Discussion: This study seems to be the first study in the literature to evaluate bladder fibrosis and compliance, biochemically, by measuring urinary collagen levels in NBD. Urinary fibrosis markers are not currently an alternative to urodynamics for bladder compliance, but they may have potential to reduce the need for urodynamics with this indication.

Conclusion: Determination of urinary collagen levels may be a marker of bladder wall fibrosis and may indirectly show decreased bladder compliance. It is plausible to say that invasive methods such as urodynamics may be less preferred for defining bladder compliance, instead, urinary biomarkers may have merit for this purpose in the future.

Background: Children with vesicoureteral reflux (VUR), particularly high-grade VUR, are known to be at increased risk for urinary tract infection (UTI). Current guidelines highlight certain clinical factors in the management of children with VUR; however, the clinical utility of upper tract dilation in the setting of VUR remains unclear.

Objective: The purpose of this study is to evaluate risk factors for febrile UTI (fUTI) in children with primary VUR in a modern cohort with emphasis on upper tract dilation parameters, including hydronephrosis and hydroureter.

Methods: A prospectively maintained database of children with VUR at a single academic institution from July 2013 to February 2023 was reviewed. Demographic and clinical data were included. Ultrasounds closest to initial VCUG were reviewed for upper tract dilation, including the presence of hydronephrosis, Society of Fetal Urology (SFU) hydronephrosis grade, presence of hydroureter, and anterior-posterior renal pelvic diameter (APRPD). The primary outcome of interest was the development of a fUTI after VUR diagnosis. Patients were censored after their first fUTI or after VUR surgery.

Results: A total of 235 children with primary VUR were evaluated, including 125 (53.2 %) females and 110 (46.8 %) males. The median age of VUR diagnosis was 10.8 months (IQR: 2.3-63.6 months). A total of 41 (17.4 %) children developed a fUTI after VUR diagnosis with a median follow up of 2.3 years (IQR: 0.9-4.6 years). On univariate analysis, variables found to be associated with fUTI included age <1 year at VUR diagnosis (p = 0.021), female sex (p = 0.013), high-grade VUR (p = 0.024), APRPD ≥7 mm (p = 0.007), high-grade hydronephrosis (p = 0.004), presence of hydronephrosis (p = 0.029), and hydroureter (p = 0.008). In children with VUR and high-grade hydronephrosis, a larger APRPD was associated with higher fUTI rates (p = 0.008). On multivariate analysis controlling for age, sex, and VUR grade, APRPD ≥7 mm (OR 2.8, p = 0.009), high-grade hydronephrosis (OR 2.5, p = 0.025), and presence of hydronephrosis (OR 2.3, p = 0.049) were independent risk factors for fUTI. On multivariate models controlling for other upper tract dilation parameters, APRPD ≥7 mm was the most significant parameter associated with increased fUTI risk in primary VUR.

Conclusion: Upper tract dilation is a novel, independent risk factor for fUTI in children with primary VUR, with APRPD being the strongest predictor. Clinicians may consider upper tract dilation parameters in addition to age, sex, and VUR grade when individualizing care in children with primary VUR.

Biofeedback has been shown to be an effective tool in the treatment of pelvic floor dysfunction in patients with bowel and bladder dysfunction, and commonly, biofeedback is provided within a physical therapy plan of care. In building a pelvic floor physical therapy program at our institution, we have found that physical therapy extends beyond biofeedback. Our preliminary experience demonstrates that patients experience more rapid symptomatic improvement when biofeedback is combined with additional therapy to address abnormal core and respiratory function.