[A Case of Upper Urinary Tract Stone in an Infant].

A 238-day-old female infant (122 days of age corrected for prematurity, weight 4,847 g) presented with macrohematuria. She was born at 23 weeks and3 days of pregnancy. Her birth weight was 492 g. Ultrasound revealeda 3×2 mm left ureteral stone and left hydronephrosis of grade I-II in the Society of Fetal Urology (SFU) Classification. She suffered from frequent vomiting and weight loss, and was treated with analgesics and rehydration. Eventually, left hydronephrosis was relieved, and she passed the stone at 271 days of age. The stone was 4×3×2 mm in size, and consisted of 98% calcium oxalate and2% calcium phosphate. No recurrent stone has been found during follow-up.

[A Case of Testicular Tumor with Multiple Metastasis Leading to Complete Response after Treatment Interruption].

A 39-year-old man experiencing cranial nerve symptoms was referred to our neurosurgery department after a brain tumor was detected on computed tomography (CT) scans at a local hospital. Due to convulsive symptoms, the patient was admitted to our hospital for detailed examination. The patient was diagnosed with right testicular tumor, multiple brain metastases, multiple lung metastases and right kidney metastases, and was transferred to our urology department. Since the testicular tumor was staged as IIIC and identified as poor prognosis by the International Germ Cell Consensus classification (IGCCC), Bleomycin Etoposide Cisplatin (BEP) chemotherapy was initiated prior to surgery. A right high orchiectomy was performed after two courses of BEP chemotherapy. Histopathology revealed mixed germ cell tumors (seminoma and/or embryonal carcinoma+teratoma) along with the following results : ly (-) ; Intratubular Malignant Germ Cells (ITMGC) (+, viable) ; tunica albuginea invasion (-) ; spermatic cord invasion (-) ; tumor size (73× 50×45 mm). Two additional courses of BEP chemotherapy and two courses of Paclitaxel Ifomaide Cisplatin(TIP) chemotherapy were performed successively. The CT revealed metastatic lesions shrinking steadily but the metastatic foci still remained. Since tumor markers were not negative, continuous chemotherapy was considered. However, strong side effects were expected, and treatment was discontinued. Since then,the tumors continued to shrink, and the tumor markers became negative. Currently, the patient maintains complete response and is being followed-up.

Familial testicular germ cell tumors in two brothers.

INTRODUCTION: Two percent of testicular germ cell tumors occur in family clusters. Here, we report metachronous testicular germ cell tumors in two brothers. CASE PRESENTATION: An elder brother was diagnosed at the age of 30 years old and the pathological diagnosis was mixed testicular germ cell tumor. A tumor in the younger brother was suspected during testicular self-examination. It was confirmed by ultrasound examination at the age of 30 years old, 3 years and 6 months after the diagnosis of the testicular tumor in elder brother. The pathological diagnosis was pure seminoma. Both brothers had stage 1 testicular germ cell tumors and no recurrence was observed during the follow-up period of 4 years and 4 months and 10 months, respectively. CONCLUSION: Various histological types of tumor can occur in members of one family. Besides genetic predisposition, shared diet, environmental exposure and other factors can contribute to the familial testicular cancer. Testicular self-examination is recommended for family members of a person with testicular germ cell tumor.

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.

Evaluating estimated glomerular filtration rates of creatinine and cystatin C for male patients with chronic spinal cord injury.

STUDY DESIGN: Retrospective study OBJECTIVES: To compare the accuracy of estimated serum creatinine (Cre)-based glomerular filtration rates (eGFRcre) and serum cystatin C (CysC)-based eGFR (eGFRcys) for determining renal function in patients with spinal cord injury (SCI). SETTING: Department of Urology, Tohoku Rosai Hospital, Japan METHODS: Male patients with SCI for longer than 5 years after injury were eligible for inclusion in this study. eGFRcre and eGFRcys were calculated using the following formulas: eGFRcre = 194 × Cre-1.094 × age-0.287; eGFRcys = (104 × CysC-0.1019 × 0.996age) - 8. The eGFRcre/eGFRcys ratio between 0.8 and 1.2 was considered to be equal, and a relationship between them was investigated. Demographic data, degree of spinal cord damage, management of bladder emptying, post-injury period, and ambulatory status were evaluated. RESULTS: A total of 115 male patients were included. eGFRcre overestimated renal function in 87 (76%) patients with SCI compared with eGFRcys. On univariate analysis, renal function by eGFRcre was overestimated in patients with an eGFRcre of more than 60 ml min-1 per 1.73 m2 (P < 0.001), in non-ambulatory patients (P < 0.001) and, in patients with complete paralysis (P < 0.001). On multivariate analysis, an eGFRcre of more than 60 ml min-1 per 1.73 m2 (P < 0.001), non-ambulatory status (P < 0.001), complete paralysis (P = 0.17), and age (P < 0.001) were independent factors for overestimated renal function by eGFRcre. CONCLUSIONS: eGFRcre overestimates renal function compared with eGFRcys. eGFRcys is beneficial, particularly in patients with an eGFRcre of more than 60 ml min-1 per 1.73 m2, in non-ambulatory patients, and in older patients with SCI.

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.

Potentiation of potassium currents by beta-adrenoceptor agonists in human urinary bladder smooth muscle cells: a possible electrical mechanism of relaxation.

We examined the effects of beta-adrenoceptor agonists on the membrane currents of smooth muscle cells from the human urinary bladder using a whole-cell patch clamp to investigate the involvement of Ca(2+)-activated K(+) (K(Ca)) channels in relaxation by beta-adrenergic agonists. With 0.05 mmol/l EGTA in the patch pipette, depolarizing pulses evoked outward rectifying currents. Isoproterenol (1 micromol/l) significantly increased the membrane currents by 75% at +80 mV with 0.05 mmol/l EGTA pipette solution. BRL 37344 (1 micromol/l) significantly increased the membrane currents by 44% at +80 mV. Iberiotoxin (100 nmol/l) significantly decreased the membrane currents by 60% at +80 mV. In the presence of iberiotoxin, the potentiation of the outward currents by isoproterenol was greatly suppressed and, in the presence of iberiotoxin and apamin (1 micromol/l), the potentiation by isoproterenol was totally abolished. On the other hand, with 5 mmol/l EGTA pipette solution, depolarizing pulses evoked smaller outward currents. Isoproterenol (1 micromol/l) did not change the membrane currents with 5 mmol/l EGTA pipette solution. The real-time PCR analysis revealed the expression of beta(2)-adrenoceptors in the cells. These results suggest that Ca(2+)-activated and iberiotoxin- and apamin-sensitive currents via both large-conductance and small-conductance K(Ca) channels could be increased by stimulation of beta(2)-adrenoceptors.

[A case of schwannoma in psoas muscle].

We report a case of schwannoma in psoas muscle, difficult to make a preoperative differential diagnosis from multilocular renal cyst in a 44-year-old woman. She complained of epigastric discomfort, and abdominal computerized tomography revealed a left multi-cystic renal tumor. Drip infusion pyelography showed the tumor displacing the left kidney superiorly, and pushing the left ureter medially. Magnetic resonance imaging demonstrated that the tumor structure was multilocular. At the operation, the tumor was observed in psoas muscle and was revealed as schwannoma in microscopic findings.

[Bilateral partial nephrectomy in a case of bilateral synchronous renal cell carcinoma].

We report a case of bilateral synchronous renal cell carcinoma in a 66-year-old-man, who underwent bilateral partial nephrectomy. He visited our hospital, complaining of left flank pain. Drip infusion pyelography showed a left ureteral stone and left hydroureteronephrosis. Computerized tomography revealed bilateral renal tumors. These tumors were small (< 2 cm), so bilateral partial nephrectomy and left ureterolithotomy were performed. The pathological examination showed that all tumors were renal cell carcinoma. No recurrence has been seen nine months after the operation. This is the 12th case in the Japanese literature reported as bilateral partial nephrectomy for bilateral synchronous renal cell carcinoma.

Clinical features of prostate cancer patients younger than 50 years: report of seven cases.

BACKGROUND: The incidence of prostate cancer increases with age and latent cancer is common in older men. But clinical prostate cancer is rare in men aged < 50 years. METHODS: Between 1988 and 2000, we studied seven cases of prostate cancer in men aged under 50 years. The clinicopathological results included: the first sign or symptom; prostate-specific antigen (PSA) at the time of diagnosis; existence of abnormal digital rectal examination (DRE); the differentiation of the cancer and Gleason score; and the outcome of treatment. RESULTS: Six cases were diagnosed as stage D2. One case was diagnosed as stage B2 and the patient underwent radical prostatectomy. None of the cases were detected by mass screening. The PSA at diagnosis was < 10 ng/mL in only one case and that patient underwent radical prostatectomy. Six cases were diagnosed pathologically as poorly differentiated adenocarcinoma. The only patient who survived more than 5 years underwent radical prostatectomy. CONCLUSION: Six of seven cases of prostate cancer were detected at advanced stage. Only one case was thought to be curable and this patient's cancer was detected by chance occult blood test. Because young prostate cancer patients are potential candidates for radical prostatectomy and the sensitivity of PSA might be higher in young men, high-risk groups could be screened by PSA.