Detection of exon skipping events in BRCA1 RNA using MLPA kit P002

A rapid and easy method to screen for aberrant cDNA would be a very useful diagnostic tool in genetics since a fraction of the DNA variants found affect RNA splicing. The currently used RT-PCR methods require new primer combinations to study each variant that might affect splicing. Since MLPA is routinely used to detect large genomic deletions and successfully detected exon skipping events in Duchenne muscular dystrophy in cDNA, we performed a pilot study to evaluate its value for BRCA1 cDNA. The effect of puromycin, DNase I and two different DNA cleaning protocols were tested in the RNA analysis of lymphocyte cultures. We used two samples from unrelated families with two different BRCA1 exon deletion events, two healthy unrelated controls and six samples from hereditary breast/ovarian cancer syndrome (HBOC) patients without BRCA1/2 mutations. Using RNA treated with DNase I and cleaned in a column system from puromycin-treated fractions, we were able to identify the two BRCA1 deletions. Additional HBOC patients did not show additional splice events. However, we were not able to get reproducible results. Therefore, the cDNA-MLPA technique using kit BRCA1 P002 is in our hands currently not reliable enough for routine RNA analysis and needs further optimization

Proliferative Hypothalamic Neurospheres Express NPY, AGRP, POMC, CART and Orexin-A and Differentiate to Functional Neurons

Some pathological conditions with feeding pattern alterations, including obesity and Huntington disease (HD) are associated with hypothalamic dysfunction and neuronal cell death. Additionally, the hypothalamus is a neurogenic region with the constitutive capacity to generate new cells of neuronal lineage, in adult rodents

Prevalência e características das feridas em pessoas idosas residentes na comunidade

RESUMO Objetivo Descrever o perfil e as características de idosos com restrição de mobilidade, residentes na comunidade e com presença de lesões de pele. Método Estudo exploratório e descritivo, parte do Estudo SABE – Saúde Bem-estar e Envelhecimento que avaliou a presença de lesões de pele em uma amostra probabilística de idosos residentes no município de São Paulo segundo aspectos sociodemográficos, biomarcadores sanguíneos, condições de saúde e utilização de serviços. A análise utilizou o teste de qui-quadrado com correção de Rao-Scott para amostras complexas com nível de significância de 5%. Resultados No ano de 2010, 20,7% dos idosos com restrição de mobilidade apresentavam lesões na pele em decorrência desse problema. Os locais mais frequentes foram região sacral para ambos os sexos, escapular para mulheres e trocanteriana para homens. Idade mais avançada, multimorbidade e comprometimento funcional foram mais prevalentes entre os idosos com feridas, assim como a maior frequência de cuidado requerido. A disfuncionalidade familiar mostrou-se associada à maior sobrecarga do cuidador que pode refletir na qualidade do cuidado prestado. Observou-se que esses idosos que são prioritários para a atenção domiciliar não a recebem adequadamente. Conclusão A prevalência de lesões de pele em idosos com restrição de mobilidade na comunidade é baixa, no entanto requerem atenção diferenciada e essa não está sendo adequadamente oferecida. A reorganização das políticas e serviços assistenciais mostra-se essencial

Narrative benchmarking in scenario assessments for digital design

This article aims to propose a strategy for narrative development, for photo/ image sharing social tools. By generating scenarios for product assessment through comparing consumption narratives as a contribution to the creation of new communication strategies. Developing as hypothesis that the development of narratives from a brand and its consequent comparison with consumers feedback, allows a more reliable way to generate inputs for the development of more effective communication strategies. The article follows an exploratory study methodology intended “to develop pertinent hypotheses and propositions for further inquiry. The article draws on a qualitative proposal of a method to apply in narratives of consumption. The results of the proposed strategy open avenues for narratives developments, where the consumers contribution receive expansion values from the brands strategy, returning value to first consumer feedbacks. The implications of this study are the creation of a paradigm of curatorship as authorship. The research limitations/ implications address the speculative scope of the proposed strategy and the need for more empirical work in the subject.info:eu-repo/semantics/publishedVersio