ABSTRACT
BACKGROUND: Diagnosing imprinting defects in neonates and young children presents challenges, often necessitating molecular analysis for a conclusive diagnosis. The isolation of genetic material from oral swabs becomes crucial, especially in settings where blood sample collection is impractical or for vulnerable populations like newborns, who possess limited blood volumes and are often too fragile for invasive procedures. Oral swab samples emerge as an excellent source of DNA, effectively overcoming obstacles associated with rare diseases. METHODS: In our study, we specifically addressed the determination of the quality and quantity of DNA extracted from oral swab samples using NaCl procedures. RESULTS: We compared these results with extractions performed using a commercial kit. Subsequently, the obtained material underwent MS-HRM analysis for loci associated with imprinting diseases such as Prader-Willi and Angelman syndromes. CONCLUSIONS: Our study emphasizes the significance of oral swab samples as a reliable source for obtaining DNA for MS-HRM analysis. NaCl extraction stands out as a practical and cost-effective method for genetic studies, contributing to a molecular diagnosis that proves particularly beneficial for patients facing delays in characterization, ultimately influencing their treatment.
Subject(s)
Angelman Syndrome , DNA , Genomic Imprinting , Mouth Mucosa , Prader-Willi Syndrome , Humans , Mouth Mucosa/cytology , Mouth Mucosa/pathology , Angelman Syndrome/genetics , Angelman Syndrome/diagnosis , Prader-Willi Syndrome/genetics , Prader-Willi Syndrome/diagnosis , DNA/genetics , DNA/isolation & purification , Sodium Chloride , Infant, Newborn , Male , Imprinting DisordersABSTRACT
The scope of this article was to analyze Brazilian scientific articles that assess the quality of life related to the health of children and adolescents. The databases consulted were SciELO and Bireme involving a total of 30 articles published between 1990 and 2008. The articles confirmed the predominance of quantitative methodologies (70%) with a high incidence of applications of HRQL (66.7%) and generic texts (28.6%). The concept of quality of life was evaluated from two standpoints: in the context of scientific research and as part of the desired results of healthcare and public policy. This construct is presented from a multidimensional perspective, embracing the social, psychological, physical and individual dimensions, which is based on the premise that the individuals themselves must assess their own quality of life. The article draws attention to the need to create and use instruments of quality of life for children and adolescents that enhance their perspective about their health processes using appropriate tools for each phase of development. The assessment of quality of life should be incorporated in clinical assessment since chronic illness has repercussions in the many dimensions of the life.
Subject(s)
Quality of Life , Adolescent , Brazil , Child , Chronic Disease , HumansABSTRACT
The scope of this article was to analyze Brazilian scientific articles that assess the quality of life related to the health of children and adolescents. The databases consulted were SciELO and Bireme involving a total of 30 articles published between 1990 and 2008. The articles confirmed the predominance of quantitative methodologies (70 percent) with a high incidence of applications of HRQL (66.7 percent) and generic texts (28.6 percent). The concept of quality of life was evaluated from two standpoints: in the context of scientific research and as part of the desired results of healthcare and public policy. This construct is presented from a multidimensional perspective, embracing the social, psychological, physical and individual dimensions, which is based on the premise that the individuals themselves must assess their own quality of life. The article draws attention to the need to create and use instruments of quality of life for children and adolescents that enhance their perspective about their health processes using appropriate tools for each phase of development. The assessment of quality of life should be incorporated in clinical assessment since chronic illness has repercussions in the many dimensions of the life.
O presente artigo tem como objetivo analisar as produções científicas nacionais, que abordam a temática da qualidade de vida ligada à saúde da criança e do adolescente. As bases de dados consultadas foram a SciELO e Bireme totalizando 30 artigos publicados no período de 1990 a 2008. Revelou-se uma predominância da abordagem quantitativa (70 por cento) e um alto índice de aplicações de instrumentos de avaliações de qualidade de vida ligada à saúde (66,7 por cento) e genéricos (28,6 por cento). O conceito de qualidade de vida foi usado em duas vertentes: no contexto da pesquisa científica e como parte dos resultados desejados das práticas assistenciais e políticas públicas. O referido construto é apresentado através de uma perspectiva multidimensional, incluindo no mínimo as dimensões física, psicológica e social e de uma perspectiva subjetiva, o que implica no pressuposto de que a própria pessoa deve avaliar sua qualidade de vida. Observou-se ainda um movimento de valorização da perspectiva da criança e do adolescente como relator de sua experiência de vida. Conclui-se pela necessidade de criação e utilização de instrumentos de avaliação de qualidade de vida que valorizem a perspectiva de crianças e adolescentes e adequados a sua fase de desenvolvimento. A avaliação de qualidade de vida deve ser incorporada à avaliação clínica uma vez que a doença crônica repercute nas diversas dimensões da vida dos mesmos.
