19 research outputs found
The European Federation of Organisations for Medical Physics Policy Statement No. 6.1: Recommended Guidelines on National Registration Schemes for Medical Physicists
El cultivo de meristemas para la conservación de germoplasma de yuca in vitro [conjunto audiotutorial]
A aproximação de lente fina é sempre válida em experimentos para determinação de distâncias focais?
Processamento de imagens: conceitos básicos relacionados com o fenômeno de difração e uso de um computador óptico
O fenômeno de difração é utilizado em um experimento relacionado à óptica de Fourier com o objetivo de estudar conceitos básicos de processamento de imagens. Um computador óptico e programas de suporte são utilizados de maneira que os estudantes tenham contato com procedimentos de filtragem espacial e reconstrução da imagem processada
Bayesian estimation for a mixture of simplex distributions with an unknown number of components: HDI analysis in Brazil
Aerobic and Facultative Microorganisms Isolated From Corroded Metallic Structures in a Hydroeletric Power Unit in the Amazon Region of Brazil
Aerobic and facultative bacteria belonging to the Enterobacteriaceae, Pseudomonadaceae, Bacillaceae, Corynebacteriaceae and Streptococcaceae families have been isolated from corroded metallic structures of a hydroelectric power unit in the Amazon region of Brazil. In addition to anamorphic dematiaceous and moniliaceous fungi, members of the archeobacteria kingdom were also detected in the same samples. Scanning electron micrographs of metal bars cultivated with consortia of the isolated microorganisms depicted suggestive images of biofilm formation and corroded metallic structures questioning the possible role of these microorganisms in the corrosion activity. We also found Amazonian medicinal plants exhibiting inhibitory activity against some of the isolated microorganisms. Our new findings need additional studies to confirm the participation of some isolated microorganisms in the process of metallic degradation despite our main question if are there particular microorganisms involved in the corrosion process? or if physicochemical conditions would favor the development of a particular microbiota and consequently the corrosion process would result from its metabolism? Therefore we hypothesize that any microorganism could be potentially involved in the genesis of corrosion process. This is the first report in the literature dealing with microbiologically induced corrosion in the Amazon region which is especially characterized by its high humidity and elevated temperature all year round
Clinical application of ACMG‐AMP guidelines in HNF1A and GCK variants in a cohort of MODY families
Maturity‐onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK ‐MODY and HNF1A ‐MODY are the prevalent subtypes. Currently, there is growing concern regarding the correct interpretation of molecular genetic findings. The American College of Medical Genetics and Genomics (ACMG) updated guidelines to interpret and classify molecular variants. This study aimed to determine the prevalence of MODY ( GCK / HNF1A ) in a large cohort of Brazilian families, to report variants related to phenotype, and to classify them according to ACMG guidelines. One hundred and nine probands were investigated, 45% with clinical suspicion of GCK ‐MODY and 55% with suspicion of HNF1A ‐MODY. Twenty‐five different variants were identified in GCK gene (30 probands—61% of positivity), and 7 variants in HNF1A (10 probands—17% of positivity). Fourteen of them were novel (12— GCK /2— HNF1A ). ACMG guidelines were able to classify a large portion of variants as pathogenic (36%— GCK /86%— HNF1A ) and likely pathogenic (44%— GCK /14%— HNF1A ), with 16% (5/32) as uncertain significance. This allows us to determine the pathogenicity classification more efficiently, and also reinforces the suspected associations with the phenotype among novel variants.924388396CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQCOORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESP304678/2012‐0Sem informação2013/19920‐