30 research outputs found

    Differentiation therapy for glioblastoma – too many obstacles?

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    The therapeutic potential of differentiation therapy for glioblastoma will depend on the robustness and stability of the differentiated state. We recently reported several obstacles to bone morphogenetic protein (BMP)-induced differentiation therapy. Improved understanding of the mechanisms that tumor cells use to escape differentiation commitment is urgently needed

    High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors; Four cases of homozygous deletions of the CDKN2A gene

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    BACKGROUND: Neuroblastoma is a very heterogeneous pediatric tumor of the sympathetic nervous system showing clinically significant patterns of genetic alterations. Favorable tumors usually have near-triploid karyotypes with few structural rearrangements. Aggressive stage 4 tumors often have near-diploid or near-tetraploid karyotypes and structural rearrangements. Whole genome approaches for analysis of genome-wide copy number have been used to analyze chromosomal abnormalities in tumor samples. We have used array-based copy number analysis using oligonucleotide single nucleotide polymorphisms (SNP) arrays to analyze the chromosomal structure of a large number of neuroblastoma tumors of different clinical and biological subsets. RESULTS: Ninety-two neuroblastoma tumors were analyzed with 50 K and/or 250 K SNP arrays from Affymetrix, using CNAG3.0 software. Thirty percent of the tumors harbored 1p deletion, 22% deletion of 11q, 26% had MYCN amplification and 45% 17q gain. Most of the tumors with 1p deletion were found among those with MYCN amplification. Loss of 11q was most commonly seen in tumors without MYCN amplification. In the case of MYCN amplification, two types were identified. One type displayed simple continuous amplicons; the other type harbored more complex rearrangements. MYCN was the only common gene in all cases with amplification. Complex amplification on chromosome 12 was detected in two tumors and three different overlapping regions of amplification were identified. Two regions with homozygous deletions, four cases with CDKN2A deletions in 9p and one case with deletion on 3p (the gene RBMS3) were also detected in the tumors. CONCLUSION: SNP arrays provide useful tools for high-resolution characterization of significant chromosomal rearrangements in neuroblastoma tumors. The mapping arrays from Affymetrix provide both copy number and allele-specific information at a resolution of 10–12 kb. Chromosome 9p, especially the gene CDKN2A, is subject to homozygous (four cases) and heterozygous deletions (five cases) in neuroblastoma tumors

    Contribuições de ações extensionistas de educação em saúde no pós-operatório de cirurgias traumatológicas

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    Objetivo: Relatar a experincia do desenvolvimento de atividades de educao em sade com pacientes no perodo ps-operatrio de cirurgia traumatolgica/ortopdica. Mtodo: Relato de experincia a partir das vivncias no desenvolvimento de um projeto de extenso no Hospital Universitrio de Santa Maria no perodo de maio de 2009 a junho de 2011. Resultados: Atividades de extenso so relevantes para proporcionar a troca de conhecimentos entre comunidade e universidade, pois estimula os acadmicos a relacionar teoria e prtica. Concluses: Salienta-se a relevncia de preparar o paciente e seu acompanhante para a alta hospitalar por meio de atividades educativas em sade as quais podero despertar o compromisso dos acadmicos e profissionais da enfermagem para esta prtica. Atividades como estas podero contribuir para a qualidade de vida do paciente e auxiliar na reduo dos custos financeiros da instituio oriundos de novas internaes decorrentes de complicaes ps-operatrias

    C to T polymorphism in exon 33 of the COL3A1 gene

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    Patterns of care and clinical outcome in assumed glioblastoma without tissue diagnosis : A population-based study of 131 consecutive patients

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    Background Elderly patients with glioblastoma and an accumulation of negative prognostic factors have an extremely short survival. There is no consensus on the clinical management of these patients and many may escape histologically verified diagnosis. The primary aim of this study was to characterize this particular subgroup of patients with radiological glioblastoma diagnosis without histological verification. The secondary aim was to evaluate if oncological therapy was of benefit. Methods Between November 2012 and June 2016, all consecutive patients presenting with a suspected glioblastoma in the western region of Sweden were registered in a population-based study. Of the 378 patients, 131 (35%) met the inclusion criteria of the present study by typical radiological features of glioblastoma without histological verification. Results The clinical characteristics of the 131 patients (72 men, 59 women) were: age ≥ 75 (n = 99, 76%), performance status according to Eastern Cooperative Oncology Group ≥ 2 (n = 93, 71%), significant comorbidity (n = 65, 50%) and multilobular tumors (n = 90, 69%). The overall median survival rate was 3.6 months. A subgroup of 44 patients (34%) received upfront treatment with temozolomide, with an overall radiological response rate of 34% and a median survival of 6.8 months, compared to 2.7 months for those receiving best supportive care only. Good performance status and temozolomide treatment were statistically significant favorable prognostic factors, while younger age was not. Conclusion Thirty-five percent of patients with a radiological diagnosis of glioblastoma in our region lacked histological diagnosis. Apart from high age and poor performance status, they had more severe comorbidities and extensive tumor spread. Even for this poor prognostic group upfront treatment with temozolomide was shown of benefit in a subgroup of patients. Our data illustrate the need of non-invasive diagnostic methods to guide optimal individualized therapy for patients considered too fragile for neurosurgical biopsy

    Validação para língua portuguesa: Lista de Checagem da Movement Assessment Battery for Children

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    A Lista de Checagem do Movement Assessment Battery for Children segunda edição (LC-MABC-2) foi desenvolvida como instrumento de triagem para crianças com dificuldades de movimento, mais especificamente com DCD. OBJETIVO: Traduzir, adaptar e verificar a validade de face, conteúdo e construto e a fidedignidade da versão em Português da LC-MABC-2; e, verificar a utilidade do referido instrumento de triagem no Brasil. METODOLOGIA: Participaram 47 profissionais da saúde (educadores físicos e fisioterapeutas) e 20 pais; e, 532 crianças, (meninas: 276; meninos: 256) entre 5 e 12 anos. RESULTADOS: indicam que a versão portuguesa adaptada da LC-MABC-2 demonstrou valores de concordância elevados para clareza e pertinência; validade convergente e descriminante apropriada; e, índices de confiabilidade (escore total, α= 0,94) e objetividade inter-avaliadores elevada. CONCLUSÕES: A versão em português do LC-MABC-2 demonstrou ser válida e fidedigna na triagem de crianças com dificuldades motoras para encaminhamento para avaliações mais detalhadas e possível intervenção
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