[Complete heart blockade, external ophthalmoplegia, and pigmentary retinitis].
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Biomedical subjects
Publications and source records attributed to P Ablanedo Ablanedo.
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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.
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.
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.
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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.
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.
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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.
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.
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.
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.