Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 6 de 6
Filtrar
Mais filtros










Intervalo de ano de publicação
1.
Clin Cancer Res ; 24(6): 1355-1363, 2018 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-29351917

RESUMO

Purpose: The classification of medulloblastoma into WNT, SHH, group 3, and group 4 subgroups has become of critical importance for patient risk stratification and subgroup-tailored clinical trials. Here, we aimed to develop a simplified, clinically applicable classification approach that can be implemented in the majority of centers treating patients with medulloblastoma.Experimental Design: We analyzed 1,577 samples comprising previously published DNA methylation microarray data (913 medulloblastomas, 457 non-medulloblastoma tumors, 85 normal tissues), and 122 frozen and formalin-fixed paraffin-embedded medulloblastoma samples. Biomarkers were identified applying stringent selection filters and Linear Discriminant Analysis (LDA) method, and validated using DNA methylation microarray data, bisulfite pyrosequencing, and direct-bisulfite sequencing.Results: Using a LDA-based approach, we developed and validated a prediction method (EpiWNT-SHH classifier) based on six epigenetic biomarkers that allowed for rapid classification of medulloblastoma into the clinically relevant subgroups WNT, SHH, and non-WNT/non-SHH with excellent concordance (>99%) with current gold-standard methods, DNA methylation microarray, and gene signature profiling analysis. The EpiWNT-SHH classifier showed high prediction capacity using both frozen and formalin-fixed material, as well as diverse DNA methylation detection methods. Similarly, we developed a classifier specific for group 3 and group 4 tumors, based on five biomarkers (EpiG3-G4) with good discriminatory capacity, allowing for correct assignment of more than 92% of tumors. EpiWNT-SHH and EpiG3-G4 methylation profiles remained stable across tumor primary, metastasis, and relapse samples.Conclusions: The EpiWNT-SHH and EpiG3-G4 classifiers represent a new simplified approach for accurate, rapid, and cost-effective molecular classification of single medulloblastoma DNA samples, using clinically applicable DNA methylation detection methods. Clin Cancer Res; 24(6); 1355-63. ©2018 AACR.


Assuntos
Biomarcadores Tumorais , Neoplasias Cerebelares/diagnóstico , Neoplasias Cerebelares/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Meduloblastoma/diagnóstico , Meduloblastoma/genética , Biópsia , Ilhas de CpG , Metilação de DNA , Epigênese Genética , Epigenômica/métodos , Feminino , Perfilação da Expressão Gênica , Humanos , Masculino , Reprodutibilidade dos Testes
2.
J Voice ; 32(5): 546-552, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28739332

RESUMO

The present study aimed to carry out a systematic review of the effects of voice therapy on individuals diagnosed with muscle tension dysphonia (MTD) or hyperfunctional dysphonia. This is a systematic literature review on the databases Medline (via PubMed), Cochrane Library, Scopus, and Lilacs using a search strategy related to the theme of the study. The selection included clinical trials that assessed the effects of speech therapy intervention on patients diagnosed with MTD or hyperfunctional dysphonia published over the last 10 years in Portuguese, English, or Spanish. The Physiotherapy Evidence-Based Database (PEDro) Scale was used to assess the methodology of the studies. Of the 634 publications, 12 studies were included in this review, of which three were excluded due to a low score on the PEDro Scale, resulting in a final number of nine publications. Regarding the techniques approached, semioccluded vocal tract exercises (22.22%), nasal sound and frequency modulation (22.22%), maximum phonation time (MPT) technique and vocal hygiene (11.11%), vocal function exercises (11.11%), respiratory exercises along with phonoarticulatory sounds (11.11%), manual laryngeal therapy (11.11%), and manual laryngeal therapy associated with respiratory exercises (11.11%) were identified. These techniques promoted the following effects: improvement in intraoral and subglottal pressure, positive alterations in the glottal contact quotient, significant changes in fundamental frequency measures, increased MPT, and reduced voice roughness. Methodology was identified to be a shortcoming in the studies. The clinical trials reviewed showed positive results in using the therapeutic techniques selected in the speech therapy approach.


Assuntos
Disfonia/terapia , Tono Muscular , Fonação , Prega Vocal/fisiopatologia , Qualidade da Voz , Treinamento da Voz , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Disfonia/diagnóstico , Disfonia/etiologia , Disfonia/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recuperação de Função Fisiológica , Resultado do Tratamento , Adulto Jovem
3.
Folia Phoniatr Logop ; 69(5-6): 239-245, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29698963

RESUMO

OBJECTIVE: This study aimed to verify the effects of a voice therapy program focusing on patients with muscle tension dysphonia (MTD). PATIENTS AND METHODS: The sample comprised 30 participants diagnosed with MTD, 8 men and 22 women, none of whom was a voice professional. The assessments and reassessments employed the perceptual-auditory protocol GRBASI, measures of maximum phonation times, s/z ratio, and acoustic voice analysis. The voice therapy program included indirect and direct therapy approaches. RESULTS: All parameters assessed using the GRBASI protocol improved following treatment, particularly in regard to lowering voice strain, which is important when treating MTD. The average overall maximum phonation times increased from 8.15 to 10.8 s, while the average s/z ratio did not significantly change. Among the various acoustic parameters, a positive difference was observed for vocal jitter and shimmer. CONCLUSIONS: The therapeutic approach adopted in this study proved effective in the treatment of primary and secondary MTD. Speech therapy favored lower phonation effort, lowered vocal strain, and adequacy of adjustment of laryngeal muscles.


Assuntos
Disfonia/reabilitação , Doenças da Laringe/reabilitação , Músculos Laríngeos/fisiopatologia , Tono Muscular , Fonoterapia , Treinamento da Voz , Idoso , Percepção Auditiva , Disfonia/fisiopatologia , Feminino , Rouquidão/reabilitação , Humanos , Doenças da Laringe/fisiopatologia , Masculino , Pessoa de Meia-Idade , Acústica da Fala , Resultado do Tratamento , Qualidade da Voz
4.
Audiol., Commun. res ; 20(4): 355-360, out.-dez. 2015. tab, graf
Artigo em Inglês | LILACS | ID: lil-770547

RESUMO

RESUMO Objetivo: Caracterizar e mensurar a autopercepção vocal de pacientes pré e pós-tratamento fonoaudiológico, por meio do protocolo de Índice de Desvantagem Vocal (IDV). Métodos: Trata-se de um estudo transversal, com utilização do banco de dados de pacientes atendidos em um setor de Fonoaudiologia. Resultados: A amostra foi composta por 23 pacientes, sendo 16 (69,6%) do gênero feminino e sete (30,4%) do gênero masculino. A média de idade foi de 58 anos, a média do tempo de terapia foi de três meses e o número de sessões foi de 11 atendimentos. Dentre os tipos de disfonia encontrados, a orgânica foi a mais frequente (47,8%), seguida da funcional (30,7%) e da organofuncional (21,7%). A mediana do escore total do protocolo apresentou diminuição no período pré-intervenção, em relação ao período pós-intervenção, significando menor desvantagem vocal. Além disso, 80% das questões do protocolo apresentaram diferença significativa, quando comparadas pré e pós-fonoterapia da voz. Conclusão: Houve diferença na percepção da voz após a intervenção fonoaudiológica, indicada por meio da redução dos escores nos itens do IDV. Os achados demonstraram a importância do uso do protocolo IDV na prática clínica, auxiliando o profissional fonoaudiólogo no direcionamento do tratamento e no entendimento do comportamento vocal de pacientes disfônicos. Sugere-se futuras pesquisas, tendo em vista a eficácia do instrumento.


ABSTRACT Purpose: Characterize and measure the voice self-perception of patients pre and post speech therapy treatment using the Índice de Desvantagem Vocal (IDV) protocol, adapted from the Voice Handicap Index (VHI) protocol. Methods: This is a cross-sectional study using a database of patients seen in a speech therapy service. Results: The sample comprised 23 patients, 16 (69.6%) of whom female and seven (30.4%) male. The mean age was 58 years and the mean therapy duration was three months with 11 sessions. Among the types of dysphonia found, organic was the most frequent (47.8%) followed by functional (30.7%) and organic-functional (21.7%). The protocol's total score median decreased prior to intervention compared to the post-intervention period, which means a lower voice handicap. Moreover, 80% of the protocol's questions significantly differed when compared pre and post speech therapy. Conclusion: A difference was found in voice perception after speech therapy intervention, indicated by lower scores in the IDV items. The findings show the importance of using the IDV protocol in clinical practice to help the speech therapist target the treatment and understand the voice behavior of dysphonic patients. Further research is suggested given the instrument's efficacy.


Assuntos
Humanos , Pessoa de Meia-Idade , Disfonia , Fonoterapia , Distúrbios da Voz , Disfunção da Prega Vocal
5.
Epigenomics ; 7(7): 1137-53, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26067621

RESUMO

AIM: To define the DNA methylation landscape of neuroblastoma and its clinicopathological impact. MATERIALS & METHODS: Microarray DNA methylation data were analyzed and associated with functional/regulatory genome annotation data, transcriptional profiles and clinicobiological parameters. RESULTS: DNA methylation changes in neuroblastoma affect not only promoters but also intragenic and intergenic regions at cytosine-phosphate-guanine (CpG) and non-CpG sites, and target functional chromatin domains of development and cancer-related genes such as CCND1. Tumors with diverse clinical risk showed differences affecting CpG and, remarkably, non-CpG sites. Non-CpG methylation observed essentially in clinically favorable cases was associated with the differentiation status of neuroblastoma and expression of key genes such as ALK. CONCLUSION: This epigenetic fingerprint of neuroblastoma provides new insights into the pathogenesis and clinical behavior of this pediatric tumor.


Assuntos
Neoplasias Encefálicas/genética , Ciclina D1/genética , Epigênese Genética , Regulação Neoplásica da Expressão Gênica , Neuroblastoma/genética , Receptores Proteína Tirosina Quinases/genética , Quinase do Linfoma Anaplásico , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/mortalidade , Linhagem Celular Tumoral , Criança , Pré-Escolar , Cromatina/química , Cromatina/metabolismo , Ilhas de CpG , Ciclina D1/metabolismo , Impressões Digitais de DNA , Metilação de DNA , DNA Intergênico , Feminino , Perfilação da Expressão Gênica , Genoma Humano , Humanos , Lactente , Masculino , Neuroblastoma/diagnóstico , Neuroblastoma/metabolismo , Neuroblastoma/mortalidade , Análise de Sequência com Séries de Oligonucleotídeos , Prognóstico , Regiões Promotoras Genéticas , Receptores Proteína Tirosina Quinases/metabolismo , Análise de Sobrevida
6.
Rev. bras. hematol. hemoter ; 32(6): 449-454, 2010. tab
Artigo em Português | LILACS | ID: lil-574794

RESUMO

INTRODUÇÃO: A doença falciforme é a doença hereditária mais frequente no nosso país. O portador apresenta acometimentos físico, emocional e social, e sua qualidade de vida pode estar comprometida. OBJETIVO: Avaliar a qualidade de vida dos doentes falciformes em tratamento no Hospital das Clínicas da Universidade de Goiás. MÉTODO: Foram entrevistados 60 sujeitos entre 14 e 60 anos, doentes falciformes, em tratamento no Hospital das Clínicas. Aplicou-se o WHOQOL-Bref (instrumento avaliativo de qualidade de vida da Organização Mundial de Saúde - OMS), o questionário étnico-racial e o sociodemográfico. A significância foi definida por um erro padrão de 5 por cento (p < 0,05). Os sujeitos eram do sexo feminino em 53,3 por cento e solteiros em 71,7 por cento. A média da idade foi de 27 anos e o nível educacional até o primeiro grau completo foi de 51,7 por cento. RESULTADOS: A maioria considerou-se parda (46,7 por cento) e a minoria, negra (11,7 por cento). Apenas 6,7 por cento disseram ser vítimas de preconceito devido à cor e 33,3 por cento disseram ser vítimas de preconceito devido à doença. Os sujeitos relataram ligação entre doença e sua cor em 48,3 por cento. A qualidade de vida foi avaliada negativa em 6,7 por cento e, em 70 por cento, positiva. Apresentaram satisfação negativa quanto à saúde 23,3 por cento dos sujeitos e, em 48,3 por cento, a satisfação foi positiva. Os escores do WHOQOL-Bref, de 0 a 100 foram: domínio físico (57,32), psicológico (66,03), social (69,86) e ambiental (52,76). CONCLUSÃO: Houve correlação significativa entre preconceito devido à doença e nível educacional, e entre idade e todos os domínios. A doença falciforme limita a vida do portador, com comprometimento da qualidade de vida. A doença está perdendo o caráter de "black related disease", coincidindo com a miscigenação racial brasileira.


INTRODUCTION: Sickle cell disease is the most common inherited disease in Brazil. Patients are known to suffer physical, emotional and social impairment and their quality of life may well be involved. METHOD: The quality of life of sickle cell disease patients treated in Hospital das Clínicas of the Universidade Federal de Goiás was evaluated. Sixty patients with ages ranging from 14 to 60 years old were interviewed. The WHOQOL-Bref (a quality of life validation instrument of the World Health Organization), and the ethnical-racial, and sociodemographic questionnaires were administered. A standard error of 5 percent (p-value < 0.05) was considered acceptable. RESULTS: The mean age of the participants was 27 years old, 53.3 percent of the patients were women, 71.7 percent were single and 51.7 percent had completed elementary school. The majority classified themselves as mulattos (46.7 percent) and the minority Blacks (11.7 percent). Only 6.7 percent considered themselves victims of racial discrimination because of their skin color but 33.3 percent considered themselves victims of discrimination due to sickle cell disease. The patients 48.3 percent reported an association between their disease and their skin color. The quality of life was considered bad by 6.7 percent and good by 70 percent. A total of 48.3 percent considered their lives to be satisfactory and 23.3 percent to be unsatisfactory. The scores obtained from the WHOQOL-Bref (from 0 to 100) were: 57.32 for physical, 66.03 for psychological, 69.86 for social and 52.76 for environmental domains. There were significant correlations of discrimination due to the disease with educational level and age with all the WHOQOL-Bref domains. CONCLUSION: Sickle cell disease significantly limits the quality of life of patients. Also, sickle cell disease, coinciding with the racial miscegenation, is losing its "black-related disease" character in Brazil.


Assuntos
Humanos , Feminino , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Doença Crônica , Doença da Hemoglobina SC , Qualidade de Vida
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA