Biomedical subjects
Publications and source records attributed to R Gil.
We present two new cases of Y-autosome translocation which were detected in two azoospermic males. In the first case the translocation was de novo with the karyotype: 46,XY,t(Y;16)(q12;q11-12). In the second case the karyotype was: 46,XY,t(Y;1)(cen-q11;cen-p11), t(Y;15)(q12;p11), the mother having been a carrier of the same Y-15 translocation, and showing the chromosomic formula: 46,XX,t(Y;15)(q12;p11).
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Contractibility of the left ventricle was investigated in 15 patients with chronic aortic insufficiency with class II and III NYHA lesions. The patients were examined prior to and 6 months-2 years after valve replacement with biological prosthesis. The following parameters have been determined: end-systolic and end-diastolic left ventricular volumes, ejection fraction, mean rate of circular muscle fibers shortening, and segmental contractibility of the left ventricle. Valve replacement with biological prosthesis improved contract ability of the left ventricle in the great majority of the operated patients with chronic aortic insufficiency. Assessed parameters did not correlate well with those obtained following valve replacement.
A case of constrictive pericarditis complicated with mitral valve insufficiency is presented. Attention is called to the haemodynamic consequences and clinical effects of the coexistence of both these conditions and decidedly favourable effect of surgical treatment.
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The authors report a case of 11;17 translocation associated with recurrent spontaneous abortions, and request contact with colleagues who have observed similar cases.
The authors report a case of 1;17 translocation and request contact with colleagues who have observed similar cases.
We report a case of an immature malignant ovarian teratoma with peritoneal implants diagnosed in an 18-year-old woman. The tumor was brought into remission after surgery (three laparotomies) and adjuvant chemotherapy. A residual peritoneal implant showed a mature epithelial and glial configuration. Histologically, the neuroectodermal component was dominant in the original tumor as well as in the metastases, being confirmed by immunohistochemistry and electron microscopy. A stem cell line has been obtained with cell culture, having a germ cell character and a yolk sac configuration. This line possessed a trisomy 12 and a translocation (7;9) similar to other chromosomal abnormalities described in immature teratomas of the testes and ovaries.
A case of occlusion of the middle cerebral artery during a treatment with gonadotropin is reported. Such cases are unusual when one considers that these treatments are widely used. They occur after a markek ovarian hyperstimulation syndrome. Treatment is purely preventive with clinical, laboratory and ultrasonic examinations before injection of beta-HCG.
Long latency auditory evoked potentials were recorded in 50 patients with Parkinson's disease, some case were also investigated by the Rapid Evaluation of Cognitive Functions test (RECF) and Trail Making A test (TMA). Latencies of P2, N2 and P300 waves were longer in the parkinsonian group than in a control group matched for age. Latencies of N2 and P300 waves were correlated significantly with scores for RECF and TMA presumed to be sensitive to organic brain lesions. On the other hand no significant correlation was found between RECF and P1 and P2 latencies. In addition, correlation was lacking between Verbal Automatism test scores, presumed to be resistant to organic brain lesions, and P300 wave latencies. Cognitive evoked potential (CEP) latency increases with age in normal subjects. In the parkinsonian group the coefficient of correlation between these two factors was lower but still significant. The parkinsonian patients with dementia as defined by DSM III criteria, or an RECF score of less than 46, showed longer N2 and P300 latencies but no significant difference in N1 and P2 latencies. In contrast, comparison of P300 and N2 wave latencies in depressed and non-depressed parkinsonian patients failed to show any significant difference. The bilateral akinetic forms had marked lengthening of P300 wave latencies and a lower TMA score. Neither the duration of the disease, type of treatment, duration of L-Dopa therapy significantly influenced the latency of cognitive event-related potentials.
Cytogenetic studies were performed in nine patients with non-Hodgkin's lymphoma; four were lymphoblastic lymphoma, three Burkitt's-type and two diffuse lymphomas with mixed small and large cell. All cases showed pseudodiploid or hyperdiploid mode and, moreover, four cases had metaphases with a normal karyotype. All patients showed clonal chromosomal abnormalities, except one (lymphoblastic T-lymphoma). The translocations t (8;14) (q24;q32) and t (8;22) (q24;q11) were the abnormalities found in Burkitt's lymphoma. The translocation t (14;18) (q32;q21) was found in one case, of lymphoblastic type. In the other tumours, the chromosomes involved in the different aberrations were: #1, #3, #7, #8, #9, #14 and #17. We attempted to correlate the cytogenetic findings with histology and prognosis.
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The progressive morphological changes in the liver during neoplastic transformation have been studied by histological, cytophotometric and morphometric methods in male Wistar rats treated with two carcinogens: N-nitrosomorpholine (NNM) and aflatoxin B1 (AFB1). Cytophotometric and morphometric analysis of hepatocyte nuclei using Feulgen-stained tissue sections were performed in morphologically normal hepatic parenchyma and in early preneoplastic foci composed of altered hepatocytes. Foci of clear cells, mixed cells and large basophilic cells possessed a ploidy distribution similar to the surrounding non-transformed parenchyma, while the small hyperbasophilic cell foci were predominantly diploid. These findings confirm that the foci composed of PAS-negative, small hyperbasophilic cells with an unique diploid content may represent one of the earliest stages in the neoplastic transformation.
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The authors report on the case of a young woman, seven months gone, with an history of sudden onset of successive lobar intracerebral hematomas. They revealed a Rendu-Osler-Weber disease. The mechanism is discussed.