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Biomedical subjects

M A Filgueiras

Publications and source records attributed to M A Filgueiras.

5 recordsLinked to original sources

Aberrant phenotypes in acute myeloid leukemia: a high frequency and its clinical significance.

BACKGROUND AND OBJECTIVES: Immunophenotyping is an essential method for diagnosis and classification of acute myeloid leukemias (AML), and its extensive use could identify blast cell subpopulations with aberrant phenotypes rarely seen in normal myelopoiesis. The aberrant phenotypes have been correlated with clinical, morphological and prognostic features but their occurrence in AML differs in the various studies. DESIGN AND METHODS: In this study, we analyzed 35 cases of AML, examining them for aberrant phenotypes by multiparametric flow cytometry. Co-expression of lymphoid-associated markers in myeloblasts and asynchronous antigen expression were correlated with clinical features. RESULTS: Aberrant phenotypes were found in 88.6% of the cases studied. In this group, cross-lineage antigen expression was present in 34.3% and asynchronous expression in 82.4% of the cases. CD7 was the most frequent lymphoid-associated antigen. Among the cases of asynchronous antigen expression, the most frequent phenotype was CD117(+) and/or CD34(+) in association with CD11c(+), followed by CD15(+) and CD65(+), corresponding to 67.6%, 61.7 and 50.0% of the cases, respectively. Twenty out of 33 patients were available for complete remission assessment. The CD117(+) CD15(+) phenotype correlated significantly with complete remission achievement and with the lack of unfavorable chromosome associations. INTERPRETATION AND CONCLUSIONS: We conclude that aberrant phenotypes, as they are described here, are present in the great majority of cases of AML, asynchronous antigen expression being the most frequent example; and that CD117(+) CD15(+) phenotype shows a relevant association with clinical prognosis.

Acute Disease↗

[Electroencephalographic modification in Down syndrome].

The frequency of epilepsy in Down syndrome (DS) has been reported in literature varying from 6 to 17%. A typical electroencephalographic (EEG) pattern has not been established for this condition. There is a great variation on EEG abnormalities and most of them are not associated to behavior alterations or neurological signs. The aim of this study was to establish epidemiological and electroencephalographic parameters in institutionalized patients with clinical diagnosis of DS. We studied 77 individuals of both sexes, age ranging from 0-38 years old. The EEG was performed on all the patients; 20.7% had EEG abnormalities and 31.3% of these were epileptic. The non-epileptic patients presented inespecific EEG abnormalities. Therefore, our data did not allow us to propose a typical EEG pattern for DS.

Adolescent↗

[Definitively: epilepsy is not a disease].

The author analyses past concepts which still hold good today. Such concepts regard epilepsy as a mental disease and the epileptic is usually taken as someone suffering from a severe mental disorder, tending to criminal behaviour. The author proves, taking into account various statements from prominent personalities in the scientific world, that epilepsy is neither a mental disease nor a disease in its own sense, and that the epileptic has not an aggressive behaviour.

Aggression↗

[Leber's disease. Genetic study of a family].

In this paper it is done the genetic study of a large family that segregates the hereditary optical atrophy gene. The modality of the hereditary transmission is the sex-linked recessive form (Leber's form). Five generations were studied, with a total of 134 individuals. Thirteen are affected (12 men: 1 woman). The study of the heredogram allows the observation of the high occurrence of women carriers and the affected men with descendents (2 married men in the heredogram) exhibit normal offspring (22 individuals, being 16 men and 6 women). One affected woman carrier is also observed. Such observations are in accordance with the literature. This study allows one to conclude by the high importance of genetic counselling, considering that the normal women carriers, which occur in great number, segregate the gene to individuals who will manifest the atrophy.

Adult↗