[A case of extramammary Paget's disease with urethral invasion treated by construction of continent urinary diversion based on the Monti principle using the sigmoid colon].

Extramammary Paget's disease occurring in the female vulva is occasionally associated with invasive disease to urethra and bladder mucosa. For such cases, ensuring adequate surgical margin is essential. Not only adequate removal of tumor, but also urinary diversion is important for patient's quality of life. A 77- year-old woman was treated with excision of vulvar tumor, urethra, vagina, rectum and anus. The determination of excision area was decided according to the result of mapping biopsy including urethra and bladder. Then she received reconstruction of vulva using the gracilis muscle skin flap. We applied a technique of channel formation for intermittent catheterization using the retubularized sigmoid colon based on the Monti principle. The tube was implanted submucosally into the bladder to prevent the reflux of urine. Fifteen days after operation, self-intermittent catheterization was started successfully. Surgical margins were negative in urethra, skin, vagina and rectum. There are no obvious recurrence or metastasis 1 year after surgery.

Transurethral incision of congenital obstructive lesions in the posterior urethra in boys and its effect on urinary incontinence and urodynamic study.

UNLABELLED: Study Type--Therapy (case series) Level of Evidence 4. What's known on the subject? and What does the study add? We have clarified that there exist two types of voiding urodynamics (pressure-flow-study) for congenital urethral obstruction in boys; one is synergic pattern (SP) and the other is dyssynergic pattern (DP). In terms of daytime incontinence and nocturnal enuresis, the transurethral endoscopic incision of these obstructive lesions is only effective in the SP type, while never effective in the DP type. The synergic pattern (SP) seems to represent simple anatomical obstruction, while the dyssynergic pattern (DP) may represent anatomical obstruction complicated with functional obstruction. The efficacy of endoscopic incision to mild forms of congenital urethral obstruction has been controversial, especially in terms of nocturnal enuresis. One of the reasons for the controversy is due to the lack of pre-and post-operative urodynamic assessment with its linkage to symptomatic change. We have, for the first time in the world, systematically conducted voiding urodynamic study for those elusive lesions seen in enuretic boys. Conclusively, for simple mechanical obstruction (SP), we confirmed that some voiding urodynamic parameters improve after the endoscopic incision, parallel to symptomatic improvement, while in the rest (DP) endoscopic incision is never effective. The cause of this ineffectiveness seemed to be due to persistent functional obstruction having superimposed on mechanical obstruction. The result of the study urges us to be more keen to diagnose and treat the mild congenial urethral obstruction as well as the concomitant functional obstruction in boys with nocturnal enuresis. OBJECTIVE: • To evaluate the clinical significance of congenital obstructive lesions of the posterior urethra in boys with refractory primary nocturnal enuresis. PATIENTS AND METHODS: • VCUG was performed in 43 consecutive boys who visited our department from April 2004 to April 2009 who were unresponsive to conservative treatment. 20 patients of the 43 patients, underwent TUI. VCUG and UDS were performed before and 3-4 months after TUI. • In UDS, the maximum flow rate (Qmax), maximum bladder capacity, and post-voiding residual urine volume were determined using uroflowmetry (UFM), and the detrusor pressure (Pdet) at Qmax was determined in a pressure flow study (PFS). • Clinical outcome was evaluated 3-4 months and 6 months after TUI. RESULTS: • In VCUG performed 3-4 months after TUI, improvement was observed in urethral morphology in all patients. In preoperative PFS, two patterns were observed: 13 patients (65%) had a synergic pattern (SP) in which the Pdet increased with increasing urinary flow rate simultaneously with the initiation of voiding and seven (35%) had a dyssynergic pattern (DP) in which the Pdet was not coincident with the initiation of voiding, but was higher immediately before voiding than at Qmax. TUI was effective only in the SP group: symptomatic improvement was observed in 87.5% of patients with daytime incontinence and 77% of patients with nocturnal enuresis 6 months after TUI. • In the DP group, no effect was observed (0%). With regard to changes in UDS parameters, a significant decrease (P= 0.0004) was observed in the Pdet at Qmax and a significant increase (P= 0.036) was observed in the maximum bladder capacity in the SP group, whereas no significant differences were noted in any parameters in the DP group. CONCLUSION: • Two voiding urodynamic patterns with different clinical outcomes of TUI were detected among patients with congenital posterior urethral obstruction, the underlying disease of refractory primary nocturnal enuresis in boys.

Spontaneous intraperitoneal renal rupture with urinoma formation in the fetus.

Spontaneous intraperitoneal renal rupture with urinoma formation in fetuses is an unusual condition that is caused by upper or lower urinary tract obstruction. We report the case of a neonatal male infant who presented with a spontaneous intraperitoneal right renal rupture accompanying ipsilateral ureterovesical junction obstruction (UVJO). Fetuses with UVJO accompanying contralateral multicystic dysplastic kidney should be observed carefully because of the risk of spontaneous renal rupture.

Rare case of penile fracture caused by an injury to the crus penis: Delayed repair using the transperineal approach.

INTRODUCTION: Penile fracture is a rare urologic emergency, and its surgical treatment is selected based on the damaged site of the penile corpus cavernosum. Penile fractures at the site of the crus penis are quite rare, and there is controversy regarding the preferred method of surgical repair. CASE PRESENTATION: A 25-year-old Asian man was injured when rolling over in bed. Magnetic resonance imaging showed a tear in the left crus of the penis with a hematoma. Delayed surgery was successfully performed using the transperineal approach. He did not experience pain, dysuria, or erectile dysfunction postoperatively. CONCLUSION: Delayed surgical repair using transperineal approach may be useful for penile fractures associated with penile crus injuries.

[A CASE OF CONGENITAL UNILATERAL ABSENCE OF THE VAS DEFERENS WITH SUSPECTED IPSILATERAL RENAL AGENESIS].

A 5-month-old boy was referred to our department to examine poor development of external genitalia. The patient was diagnosed with micropenis and bilateral impalpable testes, and testosterone replacement therapy was recommended. The testes remained impalpable at 14 months of age; therefore, laparoscopy was performed to explore intra-abdominal testes. The patient was incidentally diagnosed with congenital unilateral absence of the right vas deferens. A renal sonography performed after the operation revealed a high possibility of right renal agenesis. Congenital absence of the vas deferens is associated with a high probability of renal anomalies. It is, therefore, essential to pay careful attention to renal dysfunction.

The long-term prognosis of nephropathy in operated reflux.

OBJECTIVE: To investigate the postoperative long-term prognosis and the factors predicting the renal function of patients with reflux nephropathy. As the serum creatinine (s-Cr) level tends to increase during infancy, the degree of reflux and renal parenchymal damage are thought to be more important factors in pediatric patients than in older patients. MATERIALS AND METHODS: This study examined s-Cr, urinary protein, and blood pressure of patients who underwent anti-reflux surgery 10 years before. It also calculated the postoperative estimated glomerular filtration rate (eGFR) and examined the correlation between the eGFR and preoperative factors (age, gender, number of urinary tract infections [UTIs], primary diagnosis, reflux grade, percentage of dimercaptosuccinic acid uptake, degree of renal parenchymal damage, s-Cr abnormality, proteinuria, and hypertension), and analyzed the factors associated with the long-term prognosis. RESULTS: The study population was 51 infants (37 boys and 14 girls). The mean age of the patients before surgery and at the follow-up examination was 3.41 ± 3.61 and 14.63 ± 3.74 years, respectively. After surgery, the s-Cr, urinary protein, and blood pressure values showed (44.7%, 26.7%, and 18.2%, respectively) were abnormal. The postoperative eGFR was a mean 90.27 ± 20.42 ml/min/1.73 m2 and primary correlated with an older age (P = 0.0361), no UTI at the primary diagnosis (P = 0.0044), reflux grade ≥8 (P = 0.0180), degree of renal parenchymal damage (group ≥2b, P < 0.0001), s-Cr abnormality (P < 0.0001), and proteinuria (P = 0.0001) at baseline. A total of 20 patients had chronic kidney disease (CKD; Fig. 1). The multiple regression analysis of these factors revealed that an older age (P = 0.0021), reflux grade ≥8 (P = 0.0134), and degree of renal parenchymal damage (group ≥2b, P < 0.0001) were significantly associated with the long-term postoperative prognosis of reflux nephropathy. Using these three factors, this study derived a multiple regression equation estimating eGFR in the 10th year after surgery (Fig. 1). DISCUSSION: In this study, severe vesico-ureteral reflux (reflux grade ≥8) and severe renal parenchymal damage (group ≥2b) were associated with a long-term decrease in the eGFR. In particular, renal parenchymal damage was closely correlated with the postoperative eGFR; thus, this was clearly a critical factor. The age at surgery showed a better correlation with the postoperative eGFR in the multiple regression analysis; thus, age was regarded as an independent prognostic factor. CONCLUSIONS: The age, reflux grade, and degree of renal parenchymal damage at baseline were factors that affected the long-term postoperative prognosis of reflux nephropathy. Patients with high-grade reflux and severe renal parenchymal damage were more likely to show a reduced CKD level at 10 years after anti-reflux surgery.

Variety of congenital urethral lesions in boys with lower urinary tract symptoms and the results of endoscopic treatment.

OBJECTIVES: We described various types of congenital urethral anomalies seen in boys with LUTS such as refractory enuresis. Their urethrograpic and endoscopic finding were reviewed and the effect of trans-urethral incision (TUI) was analyzed. PATIENTS AND METHODS: We evaluated 67 boys with lower urinary tract symptoms (LUTS, mean: 9 years old), in a period of three and a half years. A voiding cystourethrogram (VCUG) was performed in 37 patients and if we suspected a urethral abnormality, endoscopy was performed. Congenital urethral obstruction was diagnosed from VCUG and endoscopic findings and classified into Types 1, 3 and 4 posterior urethral valves (PUV) according to Douglas Stephens' description. Trans-urethral incision (TUI) was carried out for congenital urethral obstruction and the effect was judged three months later. RESULTS: On VCUG, 17 patients (45.8%) had an abnormal urethral configuration. On endoscopy, nine patients (24.3%) were diagnosed as having PUV. The effect of TUI on PUV excluding Type 3 was 80%, while that on Type 3 was 25%. DISCUSSIONS: The incidence of PUV compared to bulbar urethral narrowing was significantly different from that described in previous Japanese reports, but similar to other countries. The reason is thought to be the lack of standardized interpretations of VCUG images and endoscopic findings, resulting in the overestimation of the bulbar urethral lesion. CONCLUSION: The incidence of PUV in Japanese boys with LUTS was higher than had ever been described. The improvement rate by TUI was high in PUV excluding Type 3, but low in Type 3. The ring like strictures at the bulbar urethra may be less important than has previously been thought.

Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome.

The LARP7 gene encodes a chaperone protein of the noncoding RNA 75 K, and mutations in this gene have been identified in patients with Alazami syndrome. Herein, we report another Japanese patient with Alazami syndrome and novel compound heterozygous variants in LARP7 (i.e., c.370delG, p.Glu124fs*38 and c.641_667+25del involving the splice donor site of intron 8). These findings provide further evidence that biallelic LARP7 defects cause the phenotype of Alazami syndrome.

A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.

Glioblastoma 2 (GLI2) is a mediator of Sonic hedgehog signaling pathway that plays an important role in development of the central nervous system and limbs. Heterozygous GLI2 mutations have been associated with postaxial polydactyly, various pituitary dysfunction, and holoprosencephaly-like phenotype. Herein, we report a Japanese boy who presented with isolated growth hormone deficiency with ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal defect, intellectual disability and dysmorphic facial features including mid-facial hypoplasia. The patient was also complicated with congenital urethral stricture with megacystis, hydronephrosis, and renal hypoplasia/dysplasia, which led to end-stage renal failure by the age of 8 years. Trio-whole-exome sequencing showed a novel de novo heterozygous frameshift mutation in GLI2 (c.3369delG, p.Met1123Ilefs*7) in the patient. This is the first report of possible association between GLI2 mutation and the phenotype of congenital anomalies of the kidney and urinary tract, and subsequent end-stage renal failure. Further studies on the urogenital phenotype in patients with GLI2 mutations may clarify a role of GLI2 in embryonic development of the urinary tract.

Giant cystic meconium peritonitis associated with a cloacal anomaly: case report.

This report describes a case of giant cystic meconium peritonitis (GCMP) associated with a cloacal anomaly. Antenatal ultrasonography and magnetic resonance imaging demonstrated persistent fetal ascites, bilateral hydronephrosis, and 3 pelvic cystic structures. The baby girl showed duplicated hydrocolpos and a single orifice of the cloaca with a long common channel inducing a urinary outflow obstruction. After constructing a diversion colostomy, a cutaneous vesicostomy was necessary to prevent recurrent urinary tract infections. These findings are consistent with a prenatal diagnosis of cloacal anomalies, thus suggesting an association with severe obstruction of lower urinary tract and meconium peritonitis. Most of reported cases of meconium peritonitis associated with the cloaca show fibroadhesive types with scattered intraperitoneal calcifications and adhesions. However, the present case showed a rare GCMP suggesting continuous urinary influx via the fallopian tubes until the later stage of intrauterine life.

Predictive value of serum macrophage colony-stimulating factor for development of aortic calcification in haemodialysis patients: a 6 year longitudinal study.

BACKGROUND: Accelerated atherosclerosis is a major complication in patients on haemodialysis (HD). Macrophage colony-stimulating factor (MCSF) is a representative regulator of activation of monocytes and macrophages, and plays important roles in the development of atherosclerosis in HD patients. However, the long-term predictive value of the serum MCSF level for the development of aortic calcification under HD conditions has not been reported. METHODS: Serum MCSF level was measured in 40 HD patients. The aortic calcification index (ACI) was also calculated on computed tomography once each year for 6 years. Predictive value was examined by logistic regression analysis. RESULTS: At baseline, there was a significant correlation between serum MCSF and ACI (r = 0.43, P<0.01). A significant increase in ACI was first noted at 4 years post-baseline and the increase was maintained thereafter in the high MCSF group. No such changes were noted in the low MCSF group. Univariate analysis identified high levels of calcium x phosphorus product, triglyceride, C-reactive protein (CRP), MCSF and presence of diabetes mellitus as significant predictors for increased ACI at 6 years. However, among these five factors, high levels of CRP and MCSF were the only independent and significant predictors (odds ratio = 24.0, P = 0.03 and odds ratio = 22.8, P = 0.02, respectively). CONCLUSIONS: Our results demonstrated that MCSF is associated with the process of atherosclerosis in HD patients. Furthermore, the serum MCSF level is an independent long-term predictor of increased ACI. These results provide useful information for preventive strategies against atherosclerotic disease under HD conditions.