Navegando por Palavras-chave "remissão"

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    Avaliação da frequência das alterações citogenéticas e de expressão gênica em LMA ao diagnóstico e, sequencialmente, na remissão
    (Universidade Federal de São Paulo (UNIFESP), 2016-10-18) Serehi, Daniele Canavezi [UNIFESP]; Chauffaille, Maria de Lourdes Lopes Ferrari [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Acute myeloid leukemias (AML) are genetic heterogeneous neoplastic diseases. Distinctive clinical features in each subtype requires attention to define the proper disease classification and prognostic factors. With the recent reports of the increasing number of mutations and alternative pathways that regulates gene expression in AML, it becomes a challenge to establish an investigative conduct covering the widest possible range of the disease alterations, especially when there are a few studies assessing the scope of gene expression and cytogenetics in patients with AML.Therefore, a better understanding of genetic aspects of the disease is essential to propose improvements. Objective: Evaluate the frequency of different cytogenetic changes and the expression of some genes in adult patients with AML and correlate them with the clinical characteristics at diagnosis, the hematologic remission and risk stratification. Methods: We performed G-band karyotype of bone marrow aspirate; FISH-panel AML/MDS or PCR for PML-RARA, when there was no result of the karyotype, gene expressions analysis of FLT3, NPM1, CEBPA, WT1, RUNX1, MLL, CKIT, NRAS and KRAS via real-time PCR and mutation analysis of FLT3, NPM1 and CKIT genes. Results: In 55 cases, 80% of the karyotype, FISH and PCR to PML-RARA results were obtained, with a frequency of 53% rearrangements detected. In 44 patients it was possible to assess gene expression and analysis of mutations, with a frequency of 52% abnormal gene expressions - 32% in more than one gene, and 20.4% of mutations, indicating that gene expression can be influenced by other pathways, besides the mutations, to produce the leukemic cell phenotype. Conclusion: This study demonstrates the range of genetic alterations, many ongoing and unrelated to mutations, that can be found in patients with AML and offers a different view on the investigative approach of these diseases, endorsing the necessity for a broad diagnosis to trace an accurate profile of each case and properly determine the risk stratification and prognosis.
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    Correlatos neuropsicológicos da remissão sintomatológica na esquizofrenia: um estudo transversal com pacientes crônicos
    (Universidade Federal de São Paulo (UNIFESP), 2016-03-28) Souza, Thais Rabanea de [UNIFESP]; Lacerda, Acioly Luiz Tavares de Lacerda [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Background: Although cognitive deficits have consistently been characterized as core features of schizophrenia, they have not been incorporated into definitions of remission. Furthermore, just a few studies have examined the relationship between cognitive deficits and symptomatic remission. The main aim of the present study is to evaluate the executive functioning of schizophrenia patients, particularly examining the neuropsychological correlates of remission. Methods: 72 remitted and 42 nonremitted schizophrenia patients, and 119 matched controls were examined. Subjects were tested with a comprehensive battery of cognitive tests, including a measure to assess the general components of executive functioning and individual tasks to tap the three specific executive dimensions assessed in the present study, namely updating, shifting and inhibition. Results: Schizophrenia subjects performed poorly on general executive functioning and shifting tasks in comparison to healthy controls. Nonremitted subjects performed poorly on inhibition and updating tasks as compared to remitted subjects. Whereas being a male and showing decreases in updating increase the chances of being in the nonremitted schizophrenia subjects group, increases in shifting and updating enhance the odds of being in the healthy control group. Conclusion: The present findings suggest that executive function deficits are present in schizophrenia patients. In addition, specific executive processes appear to be associated to symptom remission. Future studies examining prospectively first-episode, drug naive subjects diagnosed with schizophrenia may be especially elucidative.