[Evidence for autosomal dominant inheritance through the maternal line in a case of primary ciliary diskinesia]. / Evidencia de transmisión autos6mica dominante a través de la linea materna en un caso de discinesia ciliar primaria.

An atypical case of primary ciliary dyskinesia is presented in which the inheritance, rather than the classical autosomal recessive, appears to be transmitted as an autosomal dominant trait through the maternal line. The case involves two brothers of 29 and 30 years of age, married without children, with a history of infertility, frequent episodes of sinusitis, and recurrent pulmonary infections. Their mother and sister have chronic bronchopathy of unknown etiology. Their father is healthy without pulmonary problems or sinusitis. At physical exam, both brothers, sister and mother presented with bronchial rhonchi at lung auscultation. Blood analysis and pulmonary function, liver and renal tests were all normal. The ultraestructual study of the sperm flagellum by electron microscopy revealed that both brothers have the same anomaly. Namely, in the majority of the cross-sections, both dynein arms are missing. The nexin filament was present, as well as the radial spokes and the central pair of microtubules. In some sperm, besides the absence of dynein arms, there was also absence of the central pair of microtubules. Neither anomalies of the fibrous sheath nor of the dense fibers were found. In approximately 50% of the spermatozoa, the midpiece had a decreased number of mitochondria and extra non-aligned mitochondria. Other findings included extra peripheral microtubules in the axoneme.

Evidencia de transmisión autosómica dominante a través de la línea materna en un caso de discinesia ciliar primaria / Evidence for autosomal dominant inheritance through the maternal line in a case of primary ciliary diskinesia

Se presenta evidencia de un caso atípico de discinesia ciliar primaria en el que la transmisión genética, en lugar de la clásica autosómica recesiva, parece ser de tipo autosómico dominante transmitida a través de la línea materna. Se trata de un caso de dos hermanos de 29 y 30 años de edad casados y sin hijos, con historia de infertilidad, sinusitis frecuentes e infecciones respiratorias recurrentes. Madre y hermana presentan broncopatía crónica no filiada. Padre sano sin afectación pulmonar o sinusal. En el examen físico, en ambos hermanos, la hermana, y la madre, sólo destaca la presencia de roncus en la auscultación pulmonar. Bioquímica ordinaria normal, incluyendo pruebas de función pulmonar, hepática y renal. El estudio ultraestructural del flagelo espermático por microscopía electrónica indica que los dos hermanos tienen la misma anomalía. En la mayoría de las secciones transversales se encuentra ausencia de ambos brazos de dineína. El filamento de nexina está presente, así como las fibras radiales y el par central. En espermatozoides aislados, coincidiendo con la ausencia de los brazos de dineína, hay también pérdida del par central. No se encontraron anomalías en la vaina fibrosa, ni pérdida de las fibras densas. La pieza intermedia en aproximadamente el 50% de los espermatozoides mostraba una disminución en el número de mitocondrias y de mitocondrias extras no alineadas. Otros hallazgos fueron la presencia de microtúbulos extra periféricos al axonema

An atypical case of primary ciliary dyskinesia is presented in which the inheritance, rather than the classical autosomal recessive, appears to be transmitted as an autosomal dominant trait through the maternal line. The case involves two brothers of 29 and 30 years of age, married without children, with a history of infertility, frequent episodes of sinusitis, and recurrent pulmonary infections. Their mother and sister have chronic bronchopathy of unknown etiology. Their father is healthy without pulmonary problems or sinusitis. At physical exam, both brothers, sister and mother presented with bronchial rhonchi at lung auscultation. Blood analysis and pulmonary function, liver and renal tests were all normal. The ultraestructual study of the sperm flagellum by electron microscopy revealed that both brothers have the same anomaly. Namely, in the majority of the cross-sections, both dynein arms are missing. The nexin filament was present, as well as the radial spokes and the central pair of microtubules. In some sperm, besides the absence of dynein arms, there was also absence of the central pair of microtubules. Neither anomalies of the fibrous sheath nor of the dense fibers were found. In approximately 50% of the spermatozoa, the midpiece had a decreased number of mitochondria and extra non- aligned mitochondria. Other findings included extra peripheral microtubules in the axoneme

Adenoma metanéfrico renal típico. Cirugía conservadora / Tipical metanephric renal adenoma. Conservative surgery

El Adenoma Metanéfrico es un infrecuente tumor renal clasificado dentro del grupo complejo de los tumores embrionarios renales o nefroblásticos. Afecta generalmente a mujeres jóvenes y tiene un buen pronóstico en la mayoría de los casos. Debe diferenciarse fundamentalmente de variantes de carácter maligno como el carcinoma papilar de células renales, del adenosarcoma metanéfrico y del tumor de Wilms del adulto. La sospecha del mismo junto con un análisis intraoperatorio del tumor puede facilitar el empleo de cirugía renal conservadora como tratamiento evitando una cirugía radical agresiva e innecesaria. Existen casos de Adenoma Metanéfrico metastásico, con lo que el carácter totalmente benigno de esta patología y su potencial maligno no se encuentran aún totalmente esclarecidos. (AU)

[Typical renal metanephric adenoma. Conservative surgery]. / Adenoma metanéfrico renal típico. Cirugía conservadora.

Metanephric Adenoma is uncommon renal tumor included in the complex group of the embryologics or nefroblastics renal tumors. Generally occurs in young females and usually has excellent prognosis. It's important to differentiate of malignant variants, particularly renal cell papillary carcinoma, metanephric adenosarcoma and adult Wilms tumor. The suspicion and intraoperative analysis of the tumor can to facilitate the use of conservative renal surgery in order to avoid unnecessary radical and aggressive surgery. To exist cases of metastatic metanephric adenoma, and the totally benign characteristic of the metanephric adenoma and the malignant potential isn't totally clarify.

[Expression of epidermal growth factor receptor and p53 protein in superficial cancer of the urinary bladder]. / Expresión del receptor del factor de crecimiento epidérmico y de la proteína p53 en el cáncer superficial de vejiga urinaria.

OBJECTIVE: To determine the relationship of the immunohistochemical expression of p53 and EGF-r (epidermal growth factor receptor) and the recurrence rate and disease-free interval in superficial bladder cancer. METHODS: 144 patients with superficial transitional cell carcinoma of the bladder were studied over a period of three years. Direct dilution anti-EGF-r monoclonal antibody (Biogenex, San Ramon, CA 94583, USA) was utilized for EGF-r determination. Anti-p53 mouse monoclonal antibody (DO7, Novocastra, Newcastle, 24 Claremont Place, UK) at a concentration of 1:100 was utilized for protein p53 determination and was considered negative if less than 10% of the tumor cells were stained and positive if 10% to 100% of the cells stained. EGF-r was determined only as either positive or negative regardless of percent of expression. RESULTS: 55 patients (38%) showed EGF-r and 14 (9.7%) showed p53 expression. The disease free survival was 54.08 months in the patients that showed EGF-r expression vs 30 months for those that did not, the difference being statistically significant (p = 0.027). However, no differences were found in this regard for p53 expression. Tumors that expressed EGF-r recurred in the same site as that of the primary tumor. By contrast, those that did not express EGF-r recurred in another or in multiple sites. CONCLUSIONS: The risk of recurrence is lower in bladder tumors that express EGF-r than those that do not, and when they recur, this generally occurs in the same site as the primary tumor. However, determination of p53 expression was not useful in determining the risk of recurrence or progression of superficial bladder tumors.

[Mucinous adenocarcinoma of the urachus synchronic with colorectal adenocarcinoma. Value of immunohistochemistry in the differential diagnosis]. / Adenocarcinoma mucinoso de uraco sincrónico con adenocarcinoma colorrectal. Valor de la inmunohistoquímica en el diagnóstico diferencial.

The coincidence of an urachal adenocarcinoma with another similar tumour in other location makes necessary to separate a true primary from a metastatic adenocarcinoma. We report the case of a 66-years-old-man with an urachal mucinous adenocarcinoma and two colonic adenocarcinoma excised in the same surgical act, showing both macro and microscopic studies together with immunohistochemical techniques, that were useful to differentiate the origin of both neoplasms. Among them, the antibody to keratin 7, a cytoplasmic epithelial protein, was positive in the urachal and negative in the colonic tumour.

[Sarcoidosis and urolithiasis]. / Sarcoidosis y litiasis urinaria.

OBJECTIVES: A retrospective study of patients with sarcoidosis and urinary lithiasis or lithogenic risk factors (hypercalcemia and hypercalciuria) was conducted to determine the degree of relationship of this disease with urinary lithogenesis. METHODS: From 1978 to 1993, 96 patients with sarcoidosis (68 females and 28 males), aged 17 to 77 years (mean 43 yrs), were evaluated. Serum and 24-hour urinary calcium were determined by the cresolphthalein complexone procedure. The presence of urinary lithiasis was determined from patient clinical data and/or the findings of the imaging techniques that had been utilized to evaluate these patients. RESULTS: 6.3% were hypercalcemic, 26.6% were hypercalciuric, 6.2% had a previous history of urolithiasis and 8.3% had a urinary calculus at the initial consultation. CONCLUSIONS: Hypercalciuria was present in about 25% of the patients with sarcoidosis, whereas approximately 15% had clinically documented urinary lithiasis.

[Primary renal lymphoma in an HIV-positive patient]. / Linfoma renal primario en paciente V.I.H. positivo.

We report on an HIV positive patient with bilateral primary renal non-Hodgkin lymphoma that remitted with chemotherapy. The clinical and radiological features, which are initially not distinct from those of other tumors in the same site, and the therapeutic possibilities are discussed.

[Calcified bladder oat cell associated with hypercalcemia and hypophosphoremia]. / Oat cell vesical calcificado asociado a hipercalcemia e hipofosforemia.

Description of a 69-year old male patient presenting calcified vesical tumour which, following a pathoanatomical study was shown to be an non-differentiated oat cell carcinoma associated to transitional carcinoma and adenocarcinoma. Biochemically it presented hypercalcemia and hypophosphoremia and the electron microscope study demonstrated the presence of neurosecretion granules. The immunohistochemical techniques were negative for protein S-100 and cytokeratins, but positive for the membrane epithelial antigen and the neuro-specific enolase. The patient was treated by transurethral resection and polychemotherapy, presenting an initially favourable response but dying 18 months later after widespread metastasis. These data are in agreement with those obtained from the literature review carried out with regard to clinical picture, pathoanatomical studies, aggressiveness and overall poor prognosis with this type of tumours. In our view, the tumour's mixed composition supports an origin of pluripotential cell (steam cell). Presence of neuroendocrine syndromes associated to oat cell vesical tumours is an unusual fact related to the tumour's hormonal secretion.

[Endoscopic cervicotomy in post-prostatectomy sclerosis of the bladder neck]. / Cervicotomía endoscópica en la esclerosis de cuello post-prostatectomía.

We treated 23 patients with bladder neck sclerosis following treatment of prostatic adenoma by TUR (20 patients, 87%) and adenomectomy (3 patients, 14%). All patients entered a protocol for bilateral longitudinal bladder neck incision (cervicotomy) and injection of orgotein in the area of incision. Of these, 21 patients were evaluable; 18 (85%) had no recurrence, symptoms remained unchanged without ring in 2 (10%) and there was 1 (5%) recurrence. The results achieved by this simple technique combined with local antiinflammatory therapy make it the treatment of choice for this pathological condition.

Endoscopic treatment of vesicoureteral reflux following transurethral resection of a vesical carcinoma by Teflon injection.

We have treated 33 patients who presented with reflux in 40 ureters following transurethral resection (TUR) for bladder cancer. One or two injections of Teflon were made under the submucosal intramural ureter. Among the 32 ureters that could be correctly evaluated, we observed that vesicoureteral reflux disappeared in 18 (56.3%), and decreased the grade of reflux in 5 (15.6%). There were no modifications in the 9 remaining ureteral units (28.1%). Control urogram and/or sonogram scan were performed in all cases and demonstrating the absence of obstructive uropathy.

[Transitional cell carcinoma of the prostate. Report of 2 cases]. / Carcinoma de células transicionales de la próstata. A propósito de dos observaciones.

Prostate T.C.T. is a rare tumour representing about 1% of all prostate tumours. Out of 435 patients diagnosed in our prostate cancer service between 1975 and 1988, only 2 presented the features of transitional carcinoma of prostatic ductus coexisting in both cases with a glandular type tumour (0.45%). Both cases were treated in a palliative way through R.T.U. and hormonotherapy, also performing in one case telecobalto-therapy. The two cases presented had a very poor evolution, and die 6 month after diagnosis due to tumoral progression with a widespread bone metastasis, blastic in one case and mixed in the other one.

[Vesicoureteral reflux. Surgical treatment]. / Reflujo vesicoureteral. Tratamiento quirúrgico.

We present the casuistry of vesico-ureteral refluxes operated upon in our centre, which total 45. We comment upon and describe the guidelines which we have followed in indicating the operation, assessing and comparing the results obtained with the different techniques used: Leadbetter-Politano, 62.5% of successes; Cohen, 90.9%; Glen-Anderson, 100%, and González Martin, 90.5%. Finally, we make some comments upon infection associated with reflux.