Role of Magnetic Resonance Imaging in the Screening of Closed Spinal Dysraphism.

Closed spinal dysraphism (CSD) encompasses a heterogeneous group of spinal cord deformities, which can be accompanied by several types of skin stigmata. These skin stigmata may include inconspicuous features, such as sacral dimples and deformed gluteal clefts, but the association between such mild skin stigmata and CSD is uncertain. This study aimed to reevaluate the indication for magnetic resonance imaging (MRI) in patients with skin stigmata while considering the indication for surgery. A retrospective analysis was conducted on magnetic resonance images of 1255 asymptomatic children with skin stigmata between 2003 and 2015. Skin stigmata classification was based on medical chart data. All subtypes of CSDs except for filum terminale lipomas (FTL), FTL thicker than 2 mm or with low conus medullaris, were considered to meet the surgical indication. CSD prevalence was estimated while considering the surgical indications and assessed after excluding all FTL cases. Skin stigmata were classified into seven types, dimple, deformed gluteal cleft, hair, subcutaneous mass, appendage, discoloration, and protruding bone, and included 1056 isolated and 199 complex ones. The prevalence of CSD was 19.5%, 6.8%, and 0.5% among patients with isolated dimples (n = 881) and 13.9%, 5.8%, and 0.7% among those with isolated deformed gluteal clefts (n = 136) for all cases, surgical indications, and patients without FTL, respectively. Dimples and deformed gluteal clefts had a low prevalence of CSD requiring surgical intervention, and cases without FTL were rare. Asymptomatic patients with mild skin stigmata may not require immediate MRI.

Guidelines for the medical management of pediatric vesicoureteral reflux.

Urinary tract infection is a bacterial infection that commonly occurs in children. Vesicoureteral reflux is a major underlying precursor condition of urinary tract infection, and an important disorder in the field of pediatric urology. Vesicoureteral reflux is sometimes diagnosed postnatally in infants with fetal hydronephrosis diagnosed antenatally. Opinions vary regarding the diagnosis and treatment of vesicoureteral reflux, and diagnostic procedures remain debatable. In terms of medical interventions, options include either follow-up observation in the hope of possible spontaneous resolution of vesicoureteral reflux with growth/development or provision of continuous antibiotic prophylaxis based on patient characteristics (age, presence/absence of febrile urinary tract infection, lower urinary tract dysfunction and constipation). Furthermore, there are various surgical procedures with different indications and rationales. These guidelines, formulated and issued by the Japanese Society of Pediatric Urology to assist medical management of pediatric vesicoureteral reflux, cover the following: epidemiology, clinical practice algorithm for vesicoureteral reflux, syndromes (dysuria with vesicoureteral reflux, and bladder and rectal dysfunction with vesicoureteral reflux), diagnosis, treatment (medical and surgical), secondary vesicoureteral reflux, long-term prognosis and reflux nephropathy. They also provide the definition of bladder and bowel dysfunction, previously unavailable despite their close association with vesicoureteral reflux, and show the usefulness of diagnostic tests, continuous antibiotic prophylaxis and surgical intervention using site markings.

Ureteral Sextuplication With a Blind-ending Ureter Originating From the Upper Pole in a Boy: A Case Report.

We experienced an extremely rare case of ureteral sextuplication with a blind-ending ureter originating from the upper pole. The patient had 6 separate ureters and 6 renal pelvises with 1 ureteral orifice on the left. The left kidney was hypoplastic and its differential function was 6.5%. The patient underwent definitive surgical treatment to repair the anomaly (ureteroureterostomy and reimplantation of the formed ureter). The surgery was successful and the postoperative course was uneventful. We herein report the first such case in the English-language literature and discuss the etiology of this ureteral anomaly, the method of diagnostic imaging, and the treatment.

A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1.

SRY-negative 46,XX testicular disorders of sex development (DSD) are very rare conditions. Recently, we identified a novel heterozygous NR5A1 mutation, p.Arg92Trp (c.274C>T, p.R92W), in 2 unrelated cases of 46,XX testicular/ovotesticular DSD. We report the clinical course from infancy to puberty in a Japanese male with SRY-negative 46,XX testicular DSD, carrying this p.Arg92Trp mutation in NR5A1. The patient naturally acquired the development of a penis and pubic hair during puberty. However, hypergonadotropic hypogonadism subsequently developed. More clinical cases will be needed to fully understand the effects of the p.Arg92Trp mutation on the ability to maintain testosterone secretion in 46,XX testicular DSD.

Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies.

Campomelic dysplasia (CD) is a skeletal dysplasia characterized by shortened and bowed long bones, airway instability, the potential for disorders of sexual differentiation (DSD), and Pierre Robin Sequence (PRS) with cleft palate, midface hypoplasia and laryngotrachemomalacia. CD is caused by alterations in the Sex-determining region of the Y chromosome (SRY)-related-box 9 (SOX9), which has important roles in tissue and sexual differentiation. The SOX9 gene and the enhancer regions of SOX9 are located at chromosome 17q24.3. We report a 6-year-old phenotypically female referred to our department because of precocious puberty. The patient was born with Tetralogy of Fallot (TOF) and PRS. Skeletal X-ray examination showed only 11 pairs of ribs and bilateral bowed radiuses. Endocrine evaluations showed that increased levels of serum testosterone, and chromosomal analysis revealed a 46, XY, t(2;17)(p15;q24.2) karyotype. The patient was diagnosed with peripheral precocious puberty caused by over-secretion of testosterone by gonadoblastoma originating from dysgenetic gonads with Y-chromosome-related DSD. Multiple somatic abnormalities and DSD indicated that the patient might have CD. Laparoscopy revealed bilateral dysgenetic gonads, and these were removed in the successive operation to prevent malignant transformation and virilization, caused by dysgenetic gonads with Y chromosomal materials. It is highly suggestive that the chromosomal translocation of 17q 24.2 may cause DSD and multiple somatic abnormalities, including CD, although the identified 17q breakpoint was located outside of known SOX9 enhancer regions. Thus, a hitherto unknown enhancer may be present at 17q24.2. This is the first reported case of CD with a translocation breakpoint at 17q24.2.

Surgical indication and outcome in patients with postoperative retethered cord syndrome.

OBJECT: After untethering of spinal dysraphism, some patients present with neurological deterioration, defined as retethered cord syndrome. It is known that surgical untethering is an option for improving the symptoms of retethered cord syndrome. Previous reports have shown that postoperative improvement in retethered cord syndrome was noted in the majority of patients presenting with pain, and in more patients with motor weakness than in those with urological symptoms. The authors speculate that subjective symptoms may be detected while symptoms are still reversible. In contrast, changes in urological function are less easy to diagnose, and delays in treatment may be complicated by advanced symptoms. In this study, patients with retethered cord syndrome were evaluated to investigate the benefits of performing routine urodynamic study to detect detrusor overactivity, which is considered to be a subclinical change of urological function, and to investigate the efficacy of early untethering surgery on the symptoms of retethered cord syndrome. METHODS: Surgical indications and outcomes of 78 untethering operations (20 for myelomeningocele, 58 for spinal lipoma) for retethered cord syndrome were examined. Diagnosis of retethered cord syndrome was defined by a multidisciplinary spina bifida team, and included routine urodynamic study. RESULTS: Preoperative symptoms included urological symptoms (70%), lower-extremity symptoms (45%), and others. The most frequent urological symptom was detrusor overactivity detected by urodynamic study (88.7%). Urinary incontinence was only found in 9.4% of patients. Postoperatively, progressive motor weakness improved in all patients, and sensory symptoms improved in 94%. Urological symptoms improved in 80% of the patients with urinary incontinence and in 75% of the patients with detrusor overactivity. Postoperative urodynamic study showed a significant increase in bladder volume (p < 0.05). The most common complication was temporary lower leg paresthesia that recovered at follow-up. Aggravated dysuria was noted in 3 patients. CONCLUSIONS: Early untethering operations offer symptomatic relief to patients with retethered cord syndrome. Urodynamic study findings, especially detrusor overactivity, are considered to be the most significant indicators for early diagnosis of retethered cord syndrome.

A case of large bladder hemangioma successfully treated with endoscopic yttrium aluminium garnet laser irradiation.

Bladder hemangioma is a rare benign tumor. While partial cystectomy remains an effective treatment option for large bladder hemangioma, the combined method of neodymium:yttrium aluminium garnet and holmium:yttrium aluminium garnet laser irradiation is an effective and less invasive treatment option. We report a case of large bladder hemangioma in an otherwise healthy 4-year-old boy, successfully treated with serial endoscopic yttrium aluminium garnet laser irradiation. There was no recurrence, and normal bladder function was preserved. Serial yttrium aluminium garnet laser irradiation is thus a useful, less invasive method for cases of large tumors.

Morphological and functional analyses of two infants with obstructive renal dysplasia.

Renal dysplasia associated with urinary tract obstruction comprises two distinct phenotypes, i.e., multicystic dysplastic kidney (MCDK) and obstructive renal dysplasia (ORD). MCDK is a common manifestation in infants with renal dysplasia, which is characterized by multiloculated thin-walled cysts with no functional parenchyma and an atretic ureter owing to pyelocalyceal occlusion early in fetal life. In contrast, ORD is an extremely rare condition which is caused by severe obstruction of the distal ureter or urethra. Here, we report two infants with ORD. Both patients manifested unilateral kidney enlargement with multiple cortical cysts, mild hydronephrosis, and marked dilatation of the ipsilateral ureter. Contralateral kidneys and urinary tracts revealed no apparent radiological abnormalities. Serial ultrasonographic studies of fetal and neonatal kidneys in both cases revealed that ureteral dilatation was evident at gestational week 16 and 27, respectively, and most of the cortical cysts disappeared within 1-3 months after birth. The functions of the affected kidneys were severely impaired but evident at the time of birth. These manifestations were consistent with a diagnosis of ORD, and were distinct from the features of MCDK. Our observation of fetal and infantile kidneys in these two cases provides us with a better understanding of the pathogenesis of ORD.

Master-oscillator power-amplifier scheme for efficient green-light generation in a planar MgO:PPLN waveguide.

We developed a new master-oscillator power-amplifier scheme consisting of a tapered semiconductor amplifier and a fiber-grating-stabilized laser diode for efficient green-light generation in a planar MgO:PPLN waveguide, and demonstrated cw green-light generation of 346 mW.

Blue light generation in a ridge waveguide MgO:LiNbO3 crystal pumped by a fiber Bragg grating stabilized laser diode.

We report cw blue light generation by using a periodically poled MgO:LiNbO(3) crystal with a ridge waveguide pumped by a fiber Bragg grating stabilized laser diode with 0.25 nm spectrum width in the coherent collapse regime. Blue light generation of 73 mW with 27% conversion efficiency and a wide temperature tolerance of 5.7 degrees C were attained.

Planar-waveguide quasi-phase-matched second-harmonic-generation device in Y-cut MgO-doped LiNbO3.

We designed a planar-waveguide quasi-phase-matched second-harmonic-generation device, which consists of a Y-cut periodically poled 5 mol.% MgO-doped LiNbO3 core and SiO2 claddings, that provided a 1.08 W green light with 30% conversion efficiency by using a 7 mm long sample at room temperature. The highest conversion efficiency of 49% at 0.88 W second-harmonic generation was attained by using an 18 mm long device.

Laparoscopic partial versus total adrenalectomy for aldosterone producing adenoma.

PURPOSE: Laparoscopic surgery has become a standard method for adrenal treatment. Primary hyperaldosteronism is known to be frequently characterized by multiple adrenal lesions. The indication of laparoscopic partial or total adrenalectomy in patients with aldosterone producing adenoma (APA) remains controversial. We performed the 2 procedures and compared the outcomes of these 2 operations retrospectively. MATERIALS AND METHODS: A total of 92 patients with primary hyperaldosteronism were laparoscopically treated at our institution from 1995 to 2004. A total of 29 patients underwent partial adrenalectomy or enucleation, while unilateral total adrenalectomy was performed in 63. A single pathologist examined the number and histopathological characteristics of APAs. Postoperative median followup was 60.3 and 29.3 months, respectively. RESULTS: Laparoscopic adrenalectomies were successfully performed in each group, although the partial type had fewer ports and shorter operative time. All 63 patients with total adrenalectomy showed recovery from hypertension, suppressed plasma renin activity and high plasma aldosterone. Two of 29 patients with partial adrenalectomy or enucleation still experienced hypertension with high plasma aldosterone. Of the 63 extirpated specimens 17 adrenals (27.0%) demonstrated multiple space occupying lesions along with the main APA. CONCLUSIONS: Primary hyperaldosteronism is highly associated with multiple adrenal space occupying lesions. The risk-to-benefit ratio must be carefully weighed against the potential advantage of partial adrenalectomy. We chose total laparoscopic adrenalectomy in patients with unilateral APA and primary hyperaldosteronism.

Post-laminectomy long-term survival of a patient with spinal cord compression secondary to metastatic prostate cancer.

Spinal cord compression is a skeletal-related event in advanced malignancies and is associated with serious morbidity and poor prognosis. Despite the palliative nature of laminectomy treatment, it is important to prevent neurological deficits and relieve pain as a means to improve quality of life. Here we report on a prostate cancer patient with spinal cord compression who became ambulant from paraparesis after he underwent a decompression laminectomy; he survived for 9.5 years with good quality of life.

Urinary excretion of vascular endothelial growth factor is increased in children with reflux nephropathy.

BACKGROUND: We determined the urinary levels of vascular endothelial growth factor (VEGF) in patients with reflux nephropathy to elucidate its clinical significance as a predictor of the development of renal damage. PATIENTS AND METHODS: Seventy-two patients (47 boys and 25 girls) aged 10-18 years with reflux nephropathy were studied. Vesicoureteral reflux was resolved surgically in all cases at least 2 years before enrollment. Urinary VEGF, alpha1-microglobulin and albumin levels were determined using morning spot urine samples. Plasma VEGF, serum creatinine and beta2-microglobulin levels were measured simultaneously. The severity of renal scarring and right and left kidney function were assessed by 99mTc dimercaptosuccinic acid renal scan. RESULTS: No significant correlation was found between the plasma and urinary VEGF levels. Urinary VEGF increased significantly with the increase in severity of renal scarring (p < 0.0001). Urinary VEGF levels correlated significantly with serum beta2-microglobulin (p < 0.002) and urinary alpha1-microglobulin (p < 0.03). No significant correlation of urinary VEGF levels with serum creatinine and urinary albumin levels was found. Nearly 60% of the patients with elevated urinary VEGF had normal levels of serum beta2-microglobulin and/or urinary alpha1-miocroglobulin. CONCLUSIONS: Urinary VEGF level appears to reflect its production in the kidney. Since urinary VEGF shows a propensity to elevate before the increase in serum beta2-microglobulin and/or urinary alpha1-microglobulin, urinary VEGF may serve as an early indicator of the development of reflux nephropathy.

Ultrasound grade of hydronephrosis and severity of renal cortical damage on 99m technetium dimercaptosuccinic acid renal scan in infants with unilateral hydronephrosis during followup and after pyeloplasty.

PURPOSE: We performed ultrasonography and (99m)technetium dimercaptosuccinic acid (DMSA) renal scan in infants with unilateral hydronephrosis during followup and after pyeloplasty to examine the correlation of ultrasound hydronephrosis grade with the severity of renal cortical damage and assess the recovery of renal function in the obstructed kidneys after surgery. MATERIALS AND METHODS: We studied 80 boys and 19 girls with unilateral hydronephrosis detected in the first year of life, including 75 (76%) in whom it was detected prenatally. Ultrasound images were graded according to the Society for Fetal Urology grading system. The severity of renal cortical damage was assessed by DMSA renal scan. Absolute function of the right and left kidneys was estimated by DMSA uptake and relative DMSA uptake was calculated by the formula, relative uptake = uptake in obstructed kidney/total uptake in right and left kidneys x 100%. RESULTS: On ultrasonography grades 1 to 4 hydronephrosis were diagnosed in 9, 21, 19 and 50 kidneys, respectively. On DMSA renal scan cortical damage was detected in 10 kidneys (53%) with grade 3 and 49 (98%) with grade 4 hydronephrosis but not in kidneys with grade 1 or 2 disease. Dysfunction in the obstructed kidney, defined as relative DMSA uptake less than 40%, was noted in 13 patients with grade 4 hydronephrosis. Relative DMSA uptake significantly increased after successful pyeloplasty compared with preoperative uptake (44% +/- 2% versus 40.1% +/- 2%, p <0.01). CONCLUSIONS: Ultrasound grading of hydronephrosis correlates with the severity of cortical damage or the decrease in renal function on DMSA renal scan. Differential renal function on DMSA renal scan may be a useful and less invasive tool for determining surgical indications and examining changes in renal function after surgery.