Bloqueo cardíaco completo, oftalmoplejía externa y retinitis pigmentaria / Complete heart blockade, external ophthalmoplegia, and pigmentary retinitis

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[Genetic alterations in sinonasal adenocarcinoma in wood workers studies with comparative genomic hybridization]. / Alteraciones genéticas en adenocarcinomas nasosinusales de trabajadores de la madera mediante hibridación genómica comparativa.

Eleven wood-workers with sinonasal adenocarcinoma were analyzed by comparative genomic hybridization. This technique serves as a screening test for regions of copy number changes in tumor genomes. We have applied the technique to map DNA gains and losses in 9 cases of formalin-fixed, paraffin-embedded tumors and 2 cases of frozen tumors. Gains were found most frequently than losses. Whole arm chromosomic gains were detected in high frequencies at 8q, 7q, 12q and 18p and losses at 18q, 8p, 10q, 5q, 14q and 17p. The segment most frequently amplified was 18p11.1-q11 (45%), even though others like 7q21-22 (18%) were related with lower survival rates. This analysis allows us to know for the first time the chromosomic aberrations that occur and may play an important role in sinonasal adenocarcinoma. In the future, comparative genomic hybridization could be used in the woodworkers with long exposition to wood dust to detect initial genetic aberrations and obtain an early treatment and diagnosis of the disease.

Alteraciones genéticas en adenocarcinomas nasosinusales de trabajadores de la madera mediante hibridación genómica comparativa / Genetical disorders in sinonasal adenocarcinomas in wood-workers by comparative genomic hybridization

Se estudian 11 pacientes trabajadores de la madera que desarrollaron adenocarcinomas nasosinusales. Se utilizó la hibridación genómica comparativa como método de análisis en el conjunto del contenido genómico en 9 tumores parafinados y 2 tumores congelados.Encontramos alteraciones en todos los casos predominando las ganancias cromosómicas frente a las pérdidas. Las ganancias más frecuentes de brazos cromosómicos se observan en 8q, 7q, 12q y 18p y las pérdidas o deleciones en 18q, 8p, 10q, 5q, 14q y 17p. El mayor número de amplificaciones se encontró en 18p11.1-q11 (45 por ciento), aunque otras como 7q21-22 (18 por ciento) se relacionaron con menor supervivencia. Por primera vez, este análisis permite conocer las alteraciones cromosómicas ocurridas en los adenocarcinomas nasosinusales y es un primer paso en el diseño de un modelo de progresión. En un futuro, la hibridación genómica comparativa podría ser utilizada en trabajadores expuestos al polvo de madera para detectar las alteraciones genéticas iniciales y contribuir al diagnóstico y tratamiento precoz de la enfermedad. (AU)

Eleven wood-workers with sinonasal adenocarcinoma were analyzed by comparative genomic hybridization. This technique serves as a screening test for regions of copy number changes in tumor genomes. We have applied the technique to map DNA gains and losses in 9 cases of formalin-fixed, paraffin-embedded tumors and 2 cases of frozen tumors. Gains were found most frequently than losses. Whole arm chromosomic gains were detected in high frequencies at 8q, 7q, 12q and 18p and losses at 18q, 8p, 10q, 5q, 14q and 17p. The segment most frequently amplified was 18p11.1-q11 (45%), even though others like 7q21-22 (18%) were related with lower survival rates. This analysis allows us to know for the first time the chromosomic aberrations that occur and may play an important role in sinonasal adenocarcinoma. In the future, comparative genomic hybridization could be used in the woodworkers with long exposition to wood dust to detect initial genetic aberrations and obtain an early treatment and diagnosis of the disease (AU)

[Retroperitoneal ganglioneuroma in childhood]. / Ganglioneuroma retroperitoneal en la infancia.

OBJECTIVE: An incidentally discovered retroperitoneal ganglioneuroma in a 4-year-old child is presented. METHODS: Ultrasonography and CT were performed. The surgical specimen was analyzed by macroscopic, histological and immunohistochemical techniques. RESULTS: US and CT localized a retroperitoneal mass independent from the left kidney and adrenal gland. The histological study showed a fascicular proliferation with myxoid and fibrillar areas mixed with mature ganglion cells. These cells were positive for neurofilament and neuron specific enolase. The patient had a favorable outcome with no signs of tumor recurrence. CONCLUSIONS: Ganglioneuroma is a rare, completely mature tumor that has to be differentiated from neuroblastoma.

Invaginación ileocecal causada por un pólipo fibroide inflamatorio / Ileocecal intussusception caused by an inflammatory fibroid polyp

El pólipo fibroide inflamatorio es una lesión poco frecuente del tracto gastrointestinal caracterizada por una proliferación celular no neoplásica compuesta por fibroblastos, vasos sanguíneos y células inflamatorias en el seno de una estroma edematosa y colágena. Presentamos el caso de una mujer de 78 años de edad en la que la enfermedad se manifestó inicialmente con un cuadro de suboclusión intestinal. El estudio histológico puso de manifiesto una estructura polipoide constituida por una proliferación de vasos de variado tamaño, algunos congestivos, y de fibroblastos, que se disponían en áreas de forma concéntrica. La estroma se acompañaba de un intenso infiltrado inflamatorio con abundantes eosinófilos. El pólipo fibroide inflamatorio podría considerarse una lesión no neoplásica de carácter reactivo e inflamatorio, y explicarse como una cicatrización hipertrófica del tejido conectivo submucoso, a modo de queloide (AU)

[Intestinal tuberculosis, a difficult suspected diagnosis]. / Tuberculosis intestinal, un difícil diagnóstico de presunción.

Intestinal tuberculosis (ITB) is an always difficult clinical diagnosis; we must keep in mind it in the diagnosis of patients with abdominal pain, even without concomitant lung involvement. Seven patients with ITB were revised. Five patients were male and two female, with a mean age of 45 years; all of them presented abdominal pain. Ileocecal region was involved in 71.4% of the cases. Only one patient showed old specific pulmonary lesions radiologically. Neoplasia was the most frequent clinical presumption. ITB diagnosis was made only in one case, as first possibility. Histopathological examination revealed caseous granulomas in all the cases, with acid-alcohol resistant bacilli in 71.4% of them. We want to underline the need of thinking about ITB, in the clinical evaluation of in specific abdominal pain, above all in immunosuppressed patients, and to emphasize the importance of histopathologic findings in the final diagnosis of this entity.

Tuberculosis intestinal, un difícil diagnóstico de presunción / Intestinal tuberculosis, difficult clinical diagnosis

La tuberculosis intestinal (TBI) es un diagnóstico clínico siempre difícil que es necesario tener en cuenta al valorar cuadros de dolor abdominal, incluso sin afectación pulmonar concomitante. Revisamos siete casos de TBI, en cinco varones y dos mujeres, con una edad media de 45 años; todos se presentaron como dolor abdominal. La localización pricipal fue íleo-cecal (71,4%). En un enfermo se documentó radiografía de tórax anormal por tuberculosis pulmonar antigua. El diagnóstico de presunción más frecuente fue el de neoplasia y sólo en un caso se pensó en TBI como primera posibilidad. Se llegó al diagnóstico final tras el estudio histopatológico, en el que se observaron granulomas caseificantes en todos los casos, con bacilos ácido-alcohol resistentes en el 71,4%. Queremos subrayar la necesidad de pensar en TBI, al valorar cuadros de dolor abdominal, sobre todo en inmunodeprimidos y destacar la importancia del estudio anatomopatológico en el diagnóstico final de estos enfermos (AU)

[Adrenal oncocytoma]. / Oncocitoma suprarrenal.

OBJECTIVE: To describe an additional case of adrenocortical oncocytoma that had been incidentally discovered. METHODS/RESULTS: A case of adrenocortical oncocytoma in a 30-year-old male is presented. Patient evaluation by US, CT and arteriography revealed a well-defined mass between the upper pole of the left kidney, spleen and stomach, that appeared to be of adrenal origin. Histopathological and ultrastructural studies revealed a benign adrenocortical oncocytoma with moderate cell atypia but with no signs of infiltration. CONCLUSION: Adrenocortical oncocytoma must be included in the differential diagnosis of solid adrenal tumors.

[Alveolar rhabdomyosarcoma with massive infiltration of the bone marrow as its initial manifestation]. / Rabdomiosarcoma alveolar con infiltración masiva de medula ósea como manifestación inicial.

We report a case of alveolar rhabdomyosarcoma (AR) with massive infiltration of bone marrow at presentation, and initial diagnosis in bone marrow aspirate. A 35 year old man presented with a submandibular mass, and hematomas after mild traumatisms. Peripheral blood showed thrombocytopenia and a normocytic anaemia. Bone marrow film showed diffuse involvement by undifferentiated blasts with rhabdomyoblastic features. Subsequent biopsy of submandibular lymph node confirmed the diagnosis with positivity for specific muscle actin and desmin, and negativity for lymphoid markers. Initial presentation of AR with extensive bone marrow involvement is extremely rare, and it could lead to wrong diagnosis and treatment of acute leukaemia, with the serious consequences that this would have. Immunohistochemical study and morphologic differential features can be of great diagnostic help.

[The expression of nuclear proliferation antigen in oropharyngeal carcinoma]. / Expresión del antígeno nuclear de proliferación nuclear (PCNA) en el carcinoma orofaríngeo.

Proliferating cell nuclear antigen (PCNA) is a nuclear protein synthesized in the late G1 and S phase of the cell cycle. Immunohistochemical detection of the protein is a useful marker of the proliferating cell fraction in tissue specimens. A series of 106 oropharyngeal carcinomas were evaluated using the streptavidin biotin immunoperoxidase method for detection of this protein. PCNA positivity ranged from 9 to 90.2% (mean: 54.86%; SD: 22.05). PCNA results did not correlate with clinical or histological parameters. Cox regression analysis confirmed the absence of statistical significance of the PCNA index in relation to overall survival.

[Miliary tuberculosis. Autopsy study of 29 cases]. / Tuberculosis miliar. Estudio autópsico de 29 casos.

A retrospective anatomoclinic study of 29 cases of miliary tuberculosis, selected from 2.808 necropsies carried out at Hospital Central de Asturias between 1971 and 1994, is described. Fifty eight per cent of the patients were older than 50 years. Predisposing factors were identified in 80%: diabetes, alcoholism, chronic hepatopaty, silicosis, chronic renal failure, immunessupresive treatment and malignant neoplasms. A premorten correct clinical diagnosis were done in 8 cases (27.5%) and were suspected in 4 (13.7%). Typical miliary radiologic pattern was established in 17%. The more frequently affected organs were lungs (100%), liver (82%), spleen (75%), lymphatic nodes (55%) and bone marrow (41%). Early diagnosis and treatment is nowadays more difficult because of increasing of cryptic tuberculosis, involvement of resistant organs (pancreas), new predisposing factors (chronic renal failure), new risk groups (AIDS) and lack of demonstrative clinical and radiologic findings, so is necessary to maintain suspect of this disease always in mind.

Aggressive fibromatosis of the sphenoid.

A fibromatosis located primarily in the sphenoid, with secondary invasion of the maxilla, orbit, and subtemporal region, was extirpated by means of a combined craniofacial approach.

Motor and sensory facial nerve grafts. An experimental comparative study.

Two groups of four rabbits each were used. In the first group, the greater auricular nerve was grafted into the ipsilateral facial nerve. In the second group, the facial nerve was grafted into the contralateral facial nerve. Electromyographic studies were performed on both groups 21 to 24 weeks afterward, together with an axonal count of the grafted nerves and histologic studies of the facial muscles. No differences between the groups were found in rest periods, periods of voluntary activity, and magnitude of the action potentials. In the auriculo-facial grafts, the number and density of axons was greater. The conclusion of this study is that the facial nerve can function adequately with a smaller number of axons than it normally has with sensitive nerves of a lesser width proving to be useful grafts.