Pediatric congenital hydronephrosis (ureteropelvic junction obstruction): Medical management guide.

The prevalence of asymptomatic hydronephrosis, now detected by ultrasonography, has increased. However, definitive management guidelines for the management of congenital hydronephrosis have not been established. The Japanese Society of Pediatric Urology created a "medical management guide" based on new findings for physicians practicing pediatric urology. We developed a medical management guide focused on congenital hydronephrosis caused by ureteropelvic junction obstruction. This medical management guide consists of the definition, pathophysiology, epidemiology, diagnosis, classification, treatment using a clinical management algorithm of hydronephrosis and the long-term course of the disease. The aim of hydronephrosis management is to determine whether surgery should be carried out to avoid renal dysfunction, as there is a possibility for improvement without intervention. Ultrasonography is essential to make treatment decisions. Management is determined by a comprehensive assessment, including the degree of hydronephrosis, anterior-posterior diameter of the renal pelvis and, if necessary, a nuclear medicine evaluation of the status of urine drainage and renal function.

Efficient transposition of Tn4556 by alterations in inverted repeats using a delivery vector carrying a counter-selectable marker for Streptomyces.

A 6625-base pair transposon, Tn4556, was initially isolated from a Streptomyces strain and a sequence analysis was performed; however, its annotation data remain incomplete. At least three positions were identified as frameshift and base-exchange errors by resequencing. The revised sequence revealed that Tn4556 contains four open reading frames that encode transposase, methyltransferase, isoprenyl diphosphate transferase, and resolvase, respectively. Thirty-eight-base pair inverted repeat (IR) sequences at both ends contained a 1-bp mismatch flanked by a target duplication site, and transposition efficiency was improved by the replacement of imperfectly matched IR-L to perfectly matched IR-L. The detection of Tn4556 transposition was markedly facilitated using a delivery vector carrying a strictly counter-selectable marker for Streptomyces strains.

Infantile fibrosarcoma treated with postoperative vincristine and dactinomycin.

Infantile fibrosarcoma is a non-rhabdomyosarcoma soft-tissue sarcoma that occurs in infancy and which has a relatively good prognosis. A vincristine and dactinomycin (VA) regimen has been shown to be effective, although the duration of chemotherapy has not been well defined. We describe the case of a 4-month-old boy with a mass at the left dorsum of the foot who was diagnosed with infantile fibrosarcoma after resection of the tumor, the margin of which was macroscopically positive. VA treatment was carried out with careful monitoring of response and adverse effects. Pancytopenia was seen during the second cycle, and therapy was reduced thereafter. The treatment was continued for 38 weeks (12 cycles). There was no functional impairment, and no evidence of recurrence at 18 months after therapy.

[Current Management of Congenital Diaphragmatic Hernia].

Three types of congenital diaphragmatic hernias( Bochdalek hernia, Morgagni hernia, and esophageal hiatus hernia) are described with case presentation. In the Bochdalek hernia, the most common type of congenital diaphragmatic hernia, abdominal contents pass into the thorac bia diaphragmatic defect, limiting the space available for the developing lungs. Resulting lung hypoplasia, many infants experience severe respiratory distress within minutes of birth and may require resuscitation and stabilization of cardio-pulmonary function prior to surgery. The Morgagni hernia is rare and often incidentally diagnosed on routine chest x-ray in asymptomatic patients. Repair is still advisable due to risk of strangulated bowel and respiratory distress. Esophageal hiatal hernias usually produce symptoms of gastroesophageal reflux( GERD) and rarely result in incarceration of stomach or other organs. Surgical interventions for GERD, such as Nissen fundoplication, usually target neurologically impaired children in order to prevent aspiration pneumonia and improve quality of life. Laparoscopic surgery is beneficial for all types of diaphragmatic hernia, especially in older children, but careful consideration should be made based on individual patient background.

Ventrally dislocated attachment of the ovarian suspensory ligament, a risk factor for tubal occlusion as a postoperative complication of inguinal hernia repair: efficacy of laparoscopic inguinal hernia repair for preventing tubal damage.

PURPOSE: Although the traditional cutdown inguinal hernia repair in children is well established, tubal occlusion has been reported as a complication in girls. The purpose was to investigate the mechanism of this complication and the efficacy of laparoscopic repair for preventing tubal occlusion. METHODS: Between October 2006 and May 2010, we performed laparoscopic hernia repair in 100 girls (54 with a right hernia, including 2 with an inguinal ovarian hernia, 40 with a left hernia, including 3 with an inguinal ovarian hernias, and 6 with bilateral hernias). During laparoscopic repair we examined the anatomical relationship between the ovary, ovarian suspensory ligament, internal inguinal ring, and round ligament on both sides. RESULTS: In 17 cases, 5 with an inguinal ovarian hernia and 12 without, the suspensory ligaments were ventrally dislocated and attached around the internal inguinal ring, and the ovary and fallopian tube were positioned near the internal inguinal ring and above the pelvic brim on the side of the original hernia. CONCLUSION: This ventrally dislocated attachment may facilitate sliding of the ovaries and tubes into the hernial sac and induce tubal occlusion as a postoperative complication of inguinal hernia repair. The laparoscopic procedure makes it easy to prevent this complication.

A case of early onset cystinuria in a 4-month-old girl.

Cystinuria is an autosomal recessive disorder characterized by a decrease in the reabsorption of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the renal proximal tubule. It presents with recurrent urolithiasis. Cystinuria accounts for 6-8% of all pediatric urolithiasis. The age of onset is typically 10-30 years. Here, we report a case of early-onset cystinuria. A 4-month-old girl presented with hematuria. We noticed multiple renal calculi in ultrasonography and abdominal computerized tomography scans. The diagnosis was cystinuria with urinary calculus analysis and urinary amino acid analysis. The patient was treated with urine alkalinization and cystine chelating drugs. Gene analysis showed a P482L heterozygous mutation from her mother, and an A70V heterozygous mutation from her father, in the SLC7A9 gene. This gene encodes a putative subunit of the neutral and basic amino acid transport protein, BAT1. Although cystinuria is an autosomal recessive disease, there have been previous reports of P482L heterozygous mutations greatly suppressing cystine reabsorption and causing cystinuria symptoms. Therefore, the highly influential P482L mutation of the SLC7A9 gene may have contributed to the onset of this autosomal recessive disease at an extremely young age.

Stereoselective synthesis of (R)-3-quinuclidinol through asymmetric reduction of 3-quinuclidinone with 3-quinuclidinone reductase of Rhodotorula rubra.

A novel nicotinamide adenine dinucleotide phosphate-dependent carbonyl reductase, 3-quinuclidinone reductase, was isolated from Rhodotorula rubra JCM3782. The enzyme catalyzes the asymmetric reduction of 3-quinuclidinone to (R)-3-quinuclidinol. The gene encoding the enzyme was also cloned and sequenced. A 819-bp nucleotide fragment was confirmed to be the gene encoding the 3-quinuclidinone reductase by agreement of the internal amino acid sequences of the purified enzyme. The gene encodes a total of 272 amino acid residues, and the deduced amino acid sequence shows similarity to those of several short-chain dehydrogenase/reductase family proteins. An expression vector, pWKLQ, which contains the full length 3-quinuclidinone reductase gene was constructed. Using Escherichia coli cells coexpressing the 3-quinuclidinone reductase and glucose dehydrogenase (cofactor regeneration enzyme) genes, 618 mM 3-quinuclidinone was almost stiochiometrically converted to (R)-3-quinuclidinol with an >99.9% enantiomeric excess within 21 h of reaction.

FDG-PET and CT findings of activated brown adipose tissue in a patient with paraganglioma.

A 17-year-old female had been complaining of a headache for 6 years. She presented severe hypertension (200/138 mmHg) on admission. CT showed a hypervascular tumor behind the urinary bladder and a swelling of the right internal obturator node. Intense FDG uptakes were identified in the both lesions. High FDG accumulation was also observed in the brown adipose tissue (BAT) throughout the patient's body, and intense contrast enhancement was found in the BAT on CT. The diagnosis was a malignant paraganglioma with obturator node metastasis. The post-surgery FDG-PET/ CT examination revealed that the FDG accumulations in the BAT had completely disappeared.

Living-related kidney transplantation with catheterizable urinary conduit in prune belly syndrome: A case report.

INTRODUCTION: Prune belly syndrome (PBS) presents with both renal dysplasia and urinary tract abnormalities. When performing kidney transplantation in PBS patients with kidney failure, extensive pretransplant urinary tract preparation may be necessary. PRESENTATION OF CASE: We report the case of a 36-year-old man with PBS who underwent living-related kidney transplantation with urinary diversion using the Mitrofanoff principle. The patient had a bilateral loop ureterostomy for a urethral obstruction. Cystourethrography before the operation showed tortuous and dilated ureters with vesicoureteral reflux (VUR), and complete occlusion of the urethra. Before transplantation, we created a catheterizable urinary conduit with the patient's own malformed left ureter in accordance with the Mitrofanoff principle. The folding procedure was selected for ureteroplasty to preserve good blood supply. Extravesical detrusorrhaphy was performed as an antireflux procedure. V-quadrilateral-Z ureterostomy for catheterization was performed. Then, we performed living-related kidney transplantation from the patient's mother. Postoperative cystourethrography did not show left VUR. The patient performed clean intermittent self-catheterization without complications, and had good graft function. DISCUSSION: The appendix and ileum are currently the most commonly used options for urinary conduits based on the Mitrofanoff principle. However, the patient had complications of diarrhoea and constipation, so we used the patient's own malformed ureter. We performed a folding procedure to avoid ureteral stenosis and VUR, and used the V-quadrilateral-Z flap technique to avoid stoma stenosis CONCLUSION: When performing kidney transplantation in patients with PBS, urinary tract anomalies should be thoroughly evaluated. Our surgical procedure will help to reduce complications after kidney transplantation.

Clinical and histopathological features of adrenocortical neoplasms in children: retrospective review from a single specialist center.

BACKGROUND/PURPOSE: Adrenocortical tumors (ACTs) are rare in children and the extent to which histopathological features can predict clinical behavior remains uncertain. The aim of this study was to investigate the relationship between histopathological features (Weiss score), surgical approach, tumor size, underlying genetic predisposition syndrome, and outcome. METHODS: Twenty-nine ACTs treated at our institution between 1987 and 2011 were identified from a histopathology database. The histological features were categorized using the Weiss scoring system. For tumor staging, the UKCCSG staging system was utilized. RESULTS: At a median follow-up of 25 months, 19 patients (65.5%) survived without evidence of disease and 10 patients (35.5%) had died. There was a strong association between high Weiss score and both large tumor size (P<0.01) and adverse outcome (P<0.01). Outcome for stage I and IIA disease was significantly better compared to higher stage disease and/or tumor rupture (P<0.01). CONCLUSION: There is an association between high Weiss score, large tumor size, underlying genetic predisposition syndrome and an adverse outcome for pediatric ACTs. Regardless of histopathological findings, complete surgical resection, without tumor spillage, is optimal for survival. Genetic evaluation is recommended in patients with ACTs, particularly those with a high Weiss score.