Mutation rates at Y chromosome specific microsatellites.

A collaborative work was carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG) to estimate Y-STR mutation rates. Seventeen Y chromosome STR loci (DYS19, DYS385, DYS389I and II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, DYS635 [GATA C4], GATA H4, and GATA A10) were analyzed in a sample of 3,026 father/son pairs. Among 27,029 allele transfers, 54 mutations were observed, with an overall mutation rate across the 17 loci of 1.998 x 10(-3) (95% CI, 1.501 x 10(-3) to 2.606 x 10(-3)). With just one exception, all of the mutations were single-step, and they were observed only once per gametogenesis. Repeat gains were more frequent than losses, longer alleles were found to be more mutable, and the mutation rate seemed to increase with the father's age. Hum Mutat 26(6), 520-528, 2005. (c) 2005 Wiley-Liss, Inc.

[Penile cutaneous horn. Report of a case and review of the literature]. / Cuerno cutáneo peneano. A propósito de un caso y revisión de la literatura.

OBJECTIVE: To describe an additional case of cutaneous penile horn, an uncommon lesion that has been associated with penile neoplasia, particularly epidermoid carcinoma. METHODS/RESULTS: Herein we describe a patient with cutaneous horn of the penis that had presented several years earlier. The patient underwent wide resection and biopsy of the tumor site. To date, no signs of tumor recurrence have been observed. The literature is reviewed. CONCLUSIONS: Cutaneous horn of the penis is an uncommon lesion, but it must be emphasized that it can progress to squamous cell carcinoma. Biopsy of the tumor site should be performed carefully and patients should undergo regular control evaluation.

[Bladder carcinosarcoma. A new case]. / Carcinosarcoma vesical. Nuevo caso.

Vesical carcinosarcoma is a very poor prognosis, infrequent tumour normally presenting with haematuria and for which the only treatment available is radical cystectomy. Here we present a new case of this tumour in a 61 year-old male with a brisk evolution to death.

[Major outpatient surgery in urology: our experience]. / Cirugía mayor ambulatoria en Urología: nuestra experiencia.

OBJECTIVES: This paper describes our MAS (major ambulatory surgery) unit and its application in urology. METHODS: We reviewed our series of 415 patients seen over a period of 14 months; of these, 71 (17%) did not meet the criteria and the remaining 344 patients (83%), with ages ranging from 6 months to 78 years, were treated in our MAS unit. Surgery was performed for circumcision, cryptorchidism, PVCP and hydrocele. RESULTS: Only 2 (0.5%) of the patients were hospitalized and 5 (1.4%) were reoperated. The degree of patient satisfaction was over 90%. CONCLUSIONS: 1. MAS is efficacious in providing care and efficiently resolves difficult urological cases. 2. Patient satisfaction is very high and there were only a few complications in the patients treated in this unit.

[Segment resection of the ureter in transitional cell carcinoma]. / Resección segmentaria de uréter en carcinoma transicional.

OBJECTIVE: Although it is not the treatment of choice, conservative surgery by segmental resection of the ureter has achieved very good results in a patient with transitional cell carcinoma of the ureter. These results prompted us to report on the present case. METHODS/RESULTS: Diagnosis was fundamentally by IVP. Treatment by partial resection of the ureter achieved good results as shown by the postoperative control evaluation and follow up. CONCLUSIONS: Although nephroureterectomy continues to be the treatment of choice in transitional cell carcinoma of the urinary tract, conservative treatment (endoscopic resection of the tumor) may achieve good results in some selected cases. If conservative surgery is performed, the patient must be followed very closely using urine cytology, IVP or ureteroscopy.

[Bladder endometriosis: a new case and review of the literature]. / Endometriosis vesical: un nuevo caso y revisión de la literatura.

OBJECTIVES: The diagnostic and therapeutic aspects of endometriosis of the bladder is reviewed. Although it is relatively uncommon, it should be taken into account when making the differential diagnosis in young females presenting with dysuria. METHODS/RESULTS: A young female patient with dysuria and hypogastric pain caused by endometriosis of the bladder is described. CONCLUSIONS: Diagnosis is basically by cystoscopic exploration and histological analyses of the specimens obtained by electrofulguration. Hormone therapy with Danazol may be effective in some cases. The most effective treatment is excision of the lesion by TUR or conventional surgery. Furthermore, laser could be useful in the treatment of this pathology.

[Wilm's tumor: review and up-date based on our experience]. / Tumor de Wilms: revisión y actualización a propósito de nuestra experiencia.

Wilms' tumour represents 8% of tumours appearing during childhood, and it is the more frequent malignant tumour of the urinary tract in children. A review of 7 tumours occurring in our Hospital Area over the last 11 years is made, evaluating their incidence, clinical presentation, diagnosis as well as therapeutical approaches and complications. We also conducted a review of the most recent related literature, paying special attention to the new lines of research in the field of the genetics. Likewise, we contribute the latest guidelines and suggestions by the NWTS with regard to diagnosis and treatment of Wilms' tumour.

[Cystine calculi: x-ray diffraction study. Infrared spectroscopy and SEM]. / Cálculos de cistina: estudio por difracción a rayos X. Espectroscopía por infrarrojos y MEB.

The present study investigated cystinuria and cystine calculi. Inexplicably, of 987 calculi that had been analyzed ultrastructurally at the Department of Urology of the University Hospital of Salamanca over a period of 15 years only 3 (0.3%) were cystine. The foregoing finding does not coincide with the 0.5-1% incidence reported in the world literature. Apart from the chemical analyses, infrared spectroscopy disclosed the typical findings of multiple bands 1600-625 cm-1. Analysis by x-ray diffraction revealed a slight variation from the ASTM values. One of the calculi, which we considered to be a mixed calculus (probably of calcium phosphate), showed a peak at 43 degrees, instead of the usual 34.5. Scanning electron microscopy disclosed two forms of crystallization: The typical hexagonal form of cystine stones and the rectangular form of different sizes. The material comprising the matrix was observed in many areas, covering and joining the crystals as if it were cement. Whenever possible, treatment of these recurrent calculi should be conservative. Some advocate the use of ESWL, although others consider these calculi to be extremely hard and, therefore, not amenable to ESWL. Chemical dissolution is advocated by some, although its critics consider it to be of little use. Concerning prophylaxis, forced fluids and alkalinization may reduce recurrence. Ultrastructural studies have provided further insight into the structure and composition of cystine calculi. The foregoing may be useful in determining the most appropriate form of treatment based upon stone size, shape, composition (pure or mixed), etc.

[Statistical study of a series of cryptorchism cases]. / Estudio estadístico de una serie de criptorquidias.

A study was made on a series of 348 patients with uni- and bilateral cryptorchid, a right location being predominant in the former cases, and in the canaliculus the most common testicular one. The associated pathology is usually irrelevant. In view of the results revealed by optical and ultrastructural histological study, the introduction of definitive corrective medical treatment appears to be essential within 2 years. Despite existing discrepancies with regard to dosage and efficacy of hormonal therapy with HCG or LH-RH analogues we believe they should be used at doses no higher than 12000 IU of HCG in order to achieve a decrease or ease the surgical treatment. Higher doses would damage the testicle or produce early puberty with growth failure. Scrotum-bound funiculolysis is the procedure accomplishing a larger amount of therapeutic success and in our experience the results are conditioned to the testicle's anatomic location. In the event of abdominal testicles or with high canaliculus location, a section of the spermatic canals could be performed followed later by auto-transplantations using microsurgery procedures.

[Suprarenal hemangioma. Presentation of a case and review of the literature]. / Hemangioma suprarrenal. Presentación de un caso y revisión de la literatura.

Hemangiomas are benign vascular tumors that may present at any site and rarely in the adrenal gland. Twenty-four cases, all but one had been treated surgically, have been reported in the world literature. An additional case that had been diagnosed post-operatively is presented. The patient was submitted to surgery with the diagnosis of malignant neoplasm of the adrenal gland. This rare, benign tumor must be taken into account when making the differential diagnosis of adrenal masses. For this reason, it is necessary to be familiar with its clinical and radiologic features.

Interes de la ecografía endocavitaria en el cáncer rectal / The interesting of the endocavitary echography in rectum neoplasm

Presentam los autores su experiencia con la ecografía endocavitaria en 18 pacientes portadores de câncer rectal a distintos niveles

Interes de la ecografía endocavitaria en el cáncer rectal / The interesting of the endocavitary echography in rectum neoplasm

Presentam los autores su experiencia con la ecografía endocavitaria en 18 pacientes portadores de cÔncer rectal a distintos niveles (AU)

[Thrombosis of the renal pedicle in a closed abdominal injury]. / Thrombose du pédicule rénal dans un traumatisme abdominal fermé.

A case of traumatic thrombosis of renal vascular pedicule in a 15 years old patient is presented. The different diagnostic and therapeutic problems which were seen are discussed. Special emphasis is made on the necessity of an early diagnosis for the revascularization techniques to be effective, or the nephrectomy is otherwise indicated.