Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

The objective of this study was to investigate ethnic differences in the glyoxylate reductase/hydroxypyruvate reductase (GRHPR) gene in patients with primary hyperoxaluria type 2 (PH2). GRHPR was genotyped in Japanese patients with PH2 and all GRHPR mutations described to date were reviewed in terms of geographic and ethnic association. We identified a novel mutation, a two-nucleotide deletion (c.248_249delTG) in exon 3 creating a premature 'stop' at codon 91. Also, we found that the c.864_865delTG mutation was associated with the rs35891798 single-nucleotide polymorphism. The allelic frequencies of the c.103delG, c.494G>A, c.403_404+2 delAAGT, and c.864_865delTG mutations in PH2 patients were 37.8%, 15.6%, 10.0%, and 10.0%, respectively. All patients with the c.103delG mutation were Caucasian. Patients with the c.494G>A mutation and 78% (7/9) of those with the c.403_404+2 delAAGT mutation were from the Indian subcontinent, whereas those with the c.864_865delTG mutation were Chinese or Japanese. Molecular analysis of GRHPR of four Japanese PH2 patients identified a novel mutation (c.248_249delTG in exon 3). Caucasians with PH2 should be screened for the c.103delG mutation; patients from the Indian subcontinent for c.494G>A; and patients of East Asian origin (particularly) for c.864_865delTG. The prevalence of the latter mutation in PH2 patients from East Asia was 75.0%.

Molecular nature of a sperm acrosomal antigen recognized by HS-13 monoclonal antibody.

Among the numerous monoclonal antibodies generated against human sperm antigens, HS-13 monoclonal antibody was shown to react with an intra-acrosomal antigen from human, mouse and rat. In this study, HS-13 was used as the affinity ligand for the purification of the cognate antigen from human sperm by immunoaffinity chromatography. The purified cognate antigen from human sperm, designated as HSAg-13, was found to be a protein with a molecular weight of approximately 80 kDa on SDS-PAGE in the presence of reducing reagents. This monoclonal antibody was used as the probe to study the tissue distributions and developmental expression of the cognate antigen from human, mouse and rat by immunohistochemical assays. It was concluded that the antigen recognized by HS-13 antibody is highly sperm specific and found only in sperm and mature testis, but not in any other somatic tissues examined in human and mouse. The antigen was shown to be expressed at the postmeiotic stages of spermatogenesis in mouse and rat. By using indirect immunofluorescent staining assay, HS-13 was shown to react only with the methanol-fixed acrosome-intact sperm but not with the live sperm. Following calcium ionophore A23187 treatment, acrosome-reacted sperm showed either negative staining or residual staining in the equatorial region, suggesting the intra-acrosomal location of HSAg-13. The spontaneous acrosome reaction following overnight incubation in BWW medium resulted in a statistically significant decrease of antibody-stained human sperm. In view of excellent correlations for the scoring of acrosome-intact sperm with that of fluorescence-labeled Pisum sativum agglutinin (PSA) probe, HS-13 monoclonal antibody can be routinely used for monitoring sperm capacitation and acrosome reaction.

Congenital ureteral diverticulum coexistent with hydronephrosis caused by vascular compression involving the uterine artery and umbilical ligament: report of a case.

Coexistence of congenital ureteral diverticulum and hydronephrosis caused by vascular compression is a rare entity. The authors experienced a case of congenital ureteral diverticulum coexistent with hydronephrosis caused by aberrant vascular compression by uterine and umbilical arteries in a 14-year-old girl. The authors could not diagnose accurately this abnormality preoperatively by 3-dimensional computed tomography. After partial ureterectomy, including resection of the saccular lesion and ureteroneocystostomy, the frequency of urinary tract infection decreased.

[Electron microscopic study on the surface of long-term indwelling silver-protein-coated urethral catheters (Urotopic Ag Protein)].

In order to determine the bacterial and crystal adherence to long-term indwelling urethral catheters, we performed a scanning electron microscopic study utilizing commercially available silver-protein-coated latex (Urotopic Ag Protein) and silicone urethral catheters that were left in place for over 4 weeks. Microorganisms and crystals frequently were associated with fibrillar materials. On the surface of silicone catheters bacteria often were embedded in the amorphous matrix. In contrast we found no bacteria adhering to the antimicrobial urethral catheter surface coated with silver-protein. Crystal formation was similar in both catheters, but no catheteral obstruction was observed in this study. We suggested that antimicrobial urethral catheter coated with silver-protein is applicable to patients who tend to form encrustations on long-term indwelling catheters.

[Usefulness of magnetic resonance imaging for the diagnosis of sigmoidovesical fistula: report of a case].

A 70-year-old man was given a diagnosis of sigmoidovesical fistula due to diverticulitis through the combination of examinations including cystoscopy, sigmoidoscopy, barium enema, urogram, computed tomography (CT), and magnetic resonance imaging (MRI). Among these, MRI was the most useful for the direct detection of the fistula in T1 weighted images and the confirmation of the lesion in T2 weighted images.

[Prenatal diagnosis of urological abnormalities].

The frequent discovery of fetal congenital abnormalities has led to a better understanding of pediatric urological disorders. On the other hand, new questions on clinical examinations and management of the children have given rise to much controversy. We reviewed the difficulties and pitfalls surrounding the urological prenatal diagnosis. Accuracy of ultrasonography is operator-dependent, and main factors leading misdiagnosis include oligohydramnios and rare incidence of the abnormalities. Underlying disorders of prenatal hydronephrosis are multifactorial. Efforts to obtain co-existing findings, such as ureteral dilatation or bladder abnormalities, are essential to make accurate diagnosis. Evaluation of fetal renal function is mandatory in critical cases with decreased amniotic fluid volume. Biochemical analysis of fetal urine may be most reliable in differentiating fetuses with a good prognosis from those with a poor prognosis.

[Liposarcoma of the spermatic cord in the left scrotum and inguinal region: a case report].

We report a rare case of liposarcoma of the spermatic cord in the left scrotum and inguinal region. The patient was a 75 year old male, who visited our hospital with the complaint of painless left scrotal swelling and inguinal mass which had been noticed for 3 to 4 years. Ultrasonography and computed tomography (CT) showed a heterogenous mass in the left inguinal region and intrascrotum. We suspected a left testicular tumor and removed it by high inguinal orchiectomy. Histological examination revealed a well-differentiated liposarcoma of sclerosing type. Tumor local recurrence was not recognized at 8 months after operation. This is the 43rd case of liposarcoma of the spermatic cord in the Japanese literature.

[Adenocarcinoma occurring 37 years after augmentation ileocystoplasty for tuberculous bladder atrophy: report of a case].

A 55-year-old woman was admitted with urinary frequency. She had undergone augmentation ileocystoplasty due to tuberculous bladder atrophy 37 years previously. Cystoscopy revealed a tumor on the posterior wall which had been augmented with the ileum. Partial cystectomy and bladder reconstruction using a segment of ileum and ascending colon were performed. Gross inspection showed a 15 x 10 mm, papillary tumor on the ileal mucosa near the vesico-ileal anastomosis. Histologically, moderately differentiated adenocarcinoma infiltrating into the muscle layer was surrounded by the normal ileal mucosa. She has been free of recurrence for 2 years postoperatively. This is the 8th case of adenocarcinoma following augmentation ileocystoplasty reported in the Japanese literature.

[Experience of direct hemoperfusion using polymyxin B-immobilized fiber on patients with endotoxin shock from urosepsis].

We report the effects of direct hemoperfusion using polymyxin B-immobilized fiber (PMX treatment) on two patients with endotoxin shock from urosepsis. In both cases, urosepsis caused by pyelonephritis from a ureteral stone progressed to endotoxin shock and disseminating intravascular coagulation (DIC). Single J catheter was indwelt in the ureter for the purpose of drainage before PMX treatment. Drainage of the origin of infection, using effective antibiotics and PMX treatment improved shock state and DIC earlier than we expected.

[Three cases of gastric cancer (Borrmann type IV) presenting with right back pain caused by right hydronephrosis as the first symptom].

We experienced three cases of right hydronephrosis, which were later diagnosed to have been caused by gastric cancer (Borrmann type IV). The patients were 25-, 38-, and 50-year-old women who complained of right back pain. Ultrasound sonography revealed right hydronephrosis in all three cases. We conducted drip infusion pyelography, computed tomographic scan and retrograde pyelography, but there were no signs of urinary stones or tumors, except for the presence of right ureteral stenosis. Since the patients had upper abdominal discomfort, they underwent gastrofiberscopy, which revealed scirrhous gastric cancer. We suspected that the right ureteral stenosis was caused by metastasis of gastric cancer. After a double J catheter was indwelt at the right ureter, combination chemotherapy of methetrexate + 5-fluorouracil was conducted. The right hydronephrosis diminished and all three patients became catheter-free.

[Segmental infarction of testicle presenting as right acute scrotum: a case report].

We report a case of segmental infarction of a testicle seen in a 28-year-old man with right lower abdominal pain who visited our hospital. On physical examination, the right testicle was slightly elevated and Prehn's sign was positive. As torsion of the right spermatic cord was suspected, ultrasonography and color Doppler sonography were performed, revealing sufficient blood supply in the right spermatic cord and in the most part of the right testicle. However, a low echogenic area without blood flow was noted in the upper pole of testicle. Since CT and MRI findings couldn't rule out a testicular tumor, right high orchiectomy was performed. The specimen revealed a hemorrhagic area, histologically proved to be segmental hemorrhagic infarction of the testicle. Segmental infarction of a testicle is rare and our case is the 31st case in the world literature (the 7th case in Japan).

[Outcome of neonates born with unilateral multicystic dysplastic kidneys].

AIMS: To review our experience of neonates with unilateral multicystic dysplastic kidneys (MCDKs) and to plan how to manage this anomaly. PATIENTS AND METHODS: Forty-eight neonates (30 boys, 18 girls) with unilateral MCDK were referred to our institute between August 1991 and February 1999. Urological evaluation was performed by USG, VCUG and radionuclide study. Follow-up period was 15 month to 106 months (Ave. 54 months). RESULTS: Forty-five of 48 (93.8%) MCDKs were found prenatally. No surgical procedure was performed in utero. Seven (14.6%) had low grade vesicoureteral reflux (ipsilateral 5, contralateral 2). Dilation of contralateral upper urinaly tract was detected in 16 (33.3%) neonates and diuretic renography revealed 4PUJ obstruction and 2 mid-ureteral stenosis. Although 29 of 48 (60.4%) MCDKs were large, no neonate showed mass effect which caused vomiting or dyspnea. All MCDKs except two, which removed because of ipsilateral ureterocele or ectopic ureter, were followed conservatively. Two boys had nephrectomy when they became 5-year-old on their parent's request. Surgical correction of contralateral urinary tract anomaly, 3 pyeloplasty and 2 end-to-end ureteral anastomosis, was performed. All neonates but one with contralateral hypodysplastic kidney had good renal function. Neither hypertension nor malignant tumor had occurred. CONCLUSION: These findings suggest that neonates with unilateral MCDKs can be treated conservatively only if they have no contralateral serious anomaly. Surgical intervention is not necessary for unilateral MCDKs before and after birth but socially and/or economically it depends on patients' request.

[Congenital hydronephrosis detected by prenatal ultrasonography: the effect of pyeloplasty on renal function].

PURPOSE: Prenatal detection of congenital hydronephrosis has raised new questions with regard to the need of management and the indications for operation. Moreover, there is considerable controversy whether or not pyeloplasty improves long-term renal function. We evaluated the operative results of this entity under the setting of well defined indications for surgery. MATERIALS AND METHODS: The indications for pyeloplasty included Society for Fetal Urology-grade (SFU-grade) 3 and grade 4 hydronephrosis on ultrasonogram together with obstructive pattern on modified "Well Tempered" diuretic renogram. We analysed the postoperative changes of ultrasonographic findings, differential renal function, and renogram patterns in 28 children with unilateral hydronephrosis detected prenatally. RESULTS: Of the patients, 27 had grade-4 hydronephrosis on preoperative ultrasonogram. Pyeloplasty was effective in decreasing the grade of dilatation in all kidneys except one. Of the involved renal units, 14 (50%) had reduced differential renal function less than 45% on the preoperative renogram. Differential renal function increased significantly by absolute value of 5% or greater in 8 kidneys (29%), but decreases in 5 kidneys (18%). In the remaining 15 kidneys (54%) there was no significant differences between pre- and post-operative differential renal function. Postoperative diuretic renogram changed to non-obstructive pattern in 26 kidneys (93%). Another 2 kidneys showed hypofunctioning pattern. CONCLUSIONS: The results suggest that, although pyeloplasty decreases ultrasonographic dilatation of hydronephrosis and improves excretory pattern of diuretic renogram, significant increase of differential renal function is expected in only one third of the involved kidneys.

Histology of the fetal prune belly syndrome with reference to the efficacy of prenatal decompression.

BACKGROUND: Deficient abdominal musculature, complex abnormalities of urinary tracts and bilateral abdominal cryptorchidism represent the basic characteristics of prune belly syndrome (PBS). Although prenatal diagnosis of PBS is rarely made, because of the wide variety of ultrasonographic images, reported cases have gradually increased. Once a fetus suspected of having PBS is found, it is sometimes difficult for the pediatric urologists to decide how to treat them. The histology of the kidney and urinary tracts in fetuses with PBS was reviewed in order to give suggestions on the management of prenatal cases. METHODS: Autopsy records of nine fetuses (5 males, 2 females and 2 undetermined) with characteristically distended and deficient abdominal wall were reviewed. Gestational age (GA) at detection ranged from 12 to 25 weeks and at delivery from 13 to 32 weeks. RESULTS: Renal histology in two fetuses showed earlier than normal disappearance of cortical nephrogenic zone replaced by cortical cysts and dysplastic structures. The nephrogenic zone was retained in five fetuses which were younger than GA 20 weeks. While the number of glomeruli along the medullary ray was normal for the age in three fetuses younger than GA 20 weeks, it was decreased in all others. Bladder histology was variable showing both increased musculature and defective or dysplastic muscles. There was a tendency for connective tissues in the bladder wall to increase in proportion to GA, The ureter revealed scarcity of muscle bundles among dense connective tissue. The urethra was atretic in eight fetuses. CONCLUSION: The clinical implication from the renal histology is that decompression of the urinary tract should be done before GA 20 weeks. However, the early fetal treatment appears to have no effect on the urodynamics in this disorder with deficient musculature.

Fournier's gangrene caused by Candida species as the primary organism.

Fournier's gangrene is a rare entity caused by polymicrobial aerobic and anaerobic bacteria. We report a case of Fournier's gangrene caused by Candida as the primary organism. A 65-year-old man presented with perineal soft-tissue infections. He underwent surgical debridement and suprapubic cystostomy with both antifungal and antimicrobial therapy. The histopathologic examination revealed necrotizing fasciitis with Candida species as the sole initial pathogen. The case suggests that primary fungal pathogens should be considered as a causative organism of Fournier's gangrene.

Simple techniques for atraumatic peritoneal dissection from the abdominal wall and for preventing peritoneal injury during trocar placement under retroperitoneoscopy.

PURPOSE: Inadvertent peritoneal tearing causes pneumoperitoneum and makes retroperitoneal laparoscopic procedures technically more difficult. We describe some simple techniques of atraumatic peritoneal dissection and the prevention of peritoneal injury during trocar placement under retroperitoneoscopic guidance. MATERIALS AND METHODS: After balloon dilation and the establishment of pneumoretroperitoneum a laparoscopic swab stick was used for peritoneal dissection from the abdominal wall under retroperitoneoscopic guidance. Exploratory puncture using a Cathelin (Terumo, Tokyo, Japan) needle was performed before trocar placement in close proximity to the lateral peritoneal reflection. RESULTS: We applied this technique in our last 10 consecutive retroperitoneal laparoscopic procedures. No peritoneal rents occurred during dissection of the lateral peritoneal reflection or trocar insertion. CONCLUSIONS: The laparoscopic swab stick technique described facilitates atraumatic peritoneal dissection as well as creation of an adequate working space. Exploratory puncture using a Cathelin needle is useful for preventing inadvertent peritoneal injury during trocar placement.

Urological management of cloacal anomalies.

BACKGROUND: A cloacal anomaly results from incomplete urorectal division and is frequently associated with genitourinary abnormalities. Experience of the urological reconstruction of this entity is reported. METHODS: Nine girls with cloacal malformation have been treated at the Osaka Medical Center in the past 9 years. Seven patients were detected by prenatal ultrasonography as having: megacystis (two patients); hydronephrosis (two patients); or hydrometrocolpos (three patients). Two patients underwent prenatal shunt placement between the enlarged bladder and the amniotic space. RESULTS: For neonatal urinary diversion, four patients received cystostomy. Six of seven patients with associated hydrocolpos required intermittent catheterization to decompress an enlarged vagina. Vesicoureteral reflux was detected in 12 ureters of seven patients. Antireflux surgery was indicated in four patients before definitive repair. Definitive reconstruction was performed on eight patients. The posterior sagittal approach was used in all patients. Vaginal reconstruction was done utilizing a perineal skin flap (one patient), a tubularized vaginal flap (three patients), distal rectum (three patients) and total urogenital mobilization (one patient). Postoperatively, urethrovaginal fistula was created in one patient and complete occlusion was seen in one patient. CONCLUSION: The anatomical variety of this entity determines the management options from in utero. It involves not only the creation of three perineal orifices, but also a continent, catheterizable urethra under the stabilization of renal function. Accomplishment of the definitive repair requires the combined expertise of experienced pediatric surgeons and pediatric urologists.

Surgical management of renal cell carcinoma invading into the liver: radical nephrectomy en bloc with right hepatic lateral sector.

Renal cell carcinoma demonstrates expansive growth and invasion of adjacent structures. Direct liver extension, although uncommon, is a dismal prognostic sign. We propose radical nephrectomy en bloc with right lateral sector (segments 6 and 7) of the liver. The operative procedure was performed in 2 male patients, 61 and 81 years of age, both with renal cell carcinoma and direct hepatic extension. The patients had no evidence of disease at 100 and 57 months after resection. This procedure may help cure selected patients with renal cell carcinoma invading the liver.