Navegando por Palavras-chave "remission"
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- ItemAcesso aberto (Open Access)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.
- ItemSomente MetadadadosCorrelatos 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.
- ItemSomente MetadadadosThe lifelong course of chronic epilepsy: the Chalfont experience(Oxford Univ Press, 2013-10-01) Novy, Jan; Belluzzo, Marco; Caboclo, Luis Otavio [UNIFESP]; Catarino, Claudia B.; Yogarajah, Mahinda; Martinian, Lillian; Peacock, Janet L.; Bell, Gail S.; Koepp, Matthias J.; Thom, Maria; Sander, Josemir W.; Sisodiya, Sanjay M.; UCL Inst Neurol; Universidade Federal de São Paulo (UNIFESP); Kings Coll London; SEINThe long-term outcome of chronic epilepsy remains largely unknown, despite a long historical experience. We report the lifelong course of epilepsy of an historical cohort of 235 subjects who were in residential care at the Chalfont Centre for Epilepsy: 122 had comprehensive post-mortem examination. the populations admitted as resident to the centre over time followed the evolution of society's perception of epilepsy. 'Early residents' (before 1972) were admitted for sheltered employment, escaping stigmatization, whereas 'later' residents with more severe epilepsies were admitted for care. Subjects admitted before 1972 were similar to subjects followed nowadays as outpatients, whereas patients admitted later with a higher burden of disabilities are often those in residential care. This long follow-up allowed exploration of a wide spectrum of epilepsies, affecting both subjects who were otherwise healthy and those with co-morbidities. Age at death showed a bimodal distribution with an early peak of mortality between 45-50 years old, whilst the remainder had life expectancy comparable to the general population. As a group, subjects who had post-mortem examination were not significantly different from patients who did not have post-mortem examination, but post-mortem examination provided data that were otherwise unavailable. for those who had post-mortem examination, sudden unexpected death in epilepsy (SUDEP, 18% of all deaths) did not fully explain the early mortality, to which co-morbidities contributed. High seizure frequency was a significant independent predictor of early death even after excluding SUDEP (e.g. reduction in years of life for those who had > 4 seizures/month compared with those who had < 1 seizure/month: 13 years; 95% confidence interval: 6-19; overall P = 0.0006). Those who survived to older age increasingly went into spontaneous remission lasting until death (in the whole cohort, 38/166, 23% of those who died in or after sixth decade). in subjects who had post-mortem examination, older age (odds ratio = 1.13; 95% confidence interval: 1.06-1.20) and presence of neuropathologically confirmed degenerative changes (that were not the cause of epilepsy) (odds ratio 7.14; 1.95-26.2) were independent predictors of terminal remission. Epilepsy may cause premature death indirectly through co-morbid conditions. Terminal remission occurs even without prior remissions; ageing may improve epilepsy drug responsiveness although unknown factors related to the natural history may also play a role.