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3-Methylcrotonyl CoA Carboxylase Deficiency: Disorder or Just a Biochemical Phe...

Fonseca, Helena; Bueno, Maria; Sousa, Carmen; Marcão, Ana; Lopes, Lurdes; Rocha, Hugo; Vilarinho, Laura

Introduction: 3-methylcrotonyl-CoA carboxylase deficiency (MCCD) was considered extremely rare before newborn screening (NBS) was undertaken but is now found in a number of asymptomatic babies or sometimes their mothers. This disorder of leucine metabolism, is the commonest organic aciduria found by screening, with a incidence of about 1:32 392 in our country. The clinical phenotype has been shown to vary consi...


Estudo da influência dos particulados no fenômeno de agregação dos asfaltenos p...

Henriques,Claudete Bernardo; Winter,Alessandra; Koroishi,Erika Tomie; Maciel Filho,Rubens; Bueno,Maria Izabel Maretti Silveira

The processing of national petroleums causes many operational problems due to the asphaltene aggregation phenomena. To evaluate the behavior of these phenomena, a study based on optical scan technique was carried out to understand the behavior of pure oils and their mixtures. The evaluation according to criteria established by ASTM D7061-06¹ gives a result of asphaltene flocculation of according to the separabi...

Data: 2011   |   Origem: OASIS br

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome pati...

Masotti, Cibele Luiza; Ornelas, Camila C.; Gordonos, Alessandra Splendore; Moura, Ricardo; Felix, Temis Maria; Alonso, Nivaldo; Camargo, Anamaria A.

Background: Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene. These mutations cause premature termination codons, which are predicted to lead to mRNA degradation by nonsense mediated mRNA decay (NMD). Haploinsufficiency of the gene product (treacle) during embryonic development is the proposed molecular mechanism unde...

Data: 2010   |   Origem: OASIS br

Um método verde, rápido e simples para determinar o valor energético de farinha...

Terra,Juliana; Antunes,Alexandre Martinez; Bueno,Maria Izabel Maretti Silveira; Prado,Marcelo Alexandre

The Energy Value (EV) corresponds to the sum of the energetic contributions from food macronutrients (proteins, carbohydrates and fats) and is required on the labels of pre-packaged foods. The determinations of these parameters are based on distinct analytical procedures, each one being time-consuming, laborious and producing residues. This work presents multivariate models to determine the EV contents of indus...

Data: 2010   |   Origem: OASIS br

Alveolar osseous defect in rat for cell therapy: preliminary report

Raposo-Amaral,Cassio Eduardo; Kobayashi,Gerson Shigeru; Almeida,Ana Beatriz; Bueno,Daniela F.; Freitas,Fatima Rodrigues de Souza e; Vulcano,Luiz Carlos

PURPOSE: To study were to reproduce an alveolar bone defect model in Wistar rats to be used for testing the efficacy of stem cell therapies. Additionally, we also aimed to determine the osteogenesis process of this osseous defect in the 1 month period post-surgery. METHODS: The animals were randomly divided into two groups of 7 animals each. A gingivobuccal incision was made, and a bone defect of 28 mm² of area...

Data: 2010   |   Origem: OASIS br

Effects of uterine cervix constriction on Wistar rats

Raposo-Amaral,Cassio Eduardo; Almeida,Ana Beatriz; Raposo-Amaral,Cesar Augusto; Vulcano,Luiz Carlos; Passos-Bueno,Maria Rita; Alonso,Nivaldo

PURPOSE: To verify if uterine cerclage can induce craniosynostosis or any cranial deformity in new born Wistar rats. METHODS: One pregnant female Wistar rat underwent laparotomy on day 18 of gestation and the uterus cervix was closed with a 3-0 nylon suture to avoid delivery, that occurs normally on the 21 day. The suture was released after 48 hours beyond the normal gestation period. The female rat delivered 1...

Data: 2010   |   Origem: OASIS br

An experimental model for the study of craniofacial deformities

Costa,André de Mendonça; Kobayashi,Gerson Shigeru; Bueno,Daniela Franco; Martins,Marília Trierveiler; Ferreira,Marcus de Castro; Passos-Bueno,Maria Rita

PURPOSE: To develop an experimental surgical model in rats for the study of craniofacial abnormalities. METHODS: Full thickness calvarial defects with 10x10-mm and 5x8-mm dimensions were created in 40 male NIS Wistar rats, body weight ranging from 320 to 420 g. The animals were equally divided into two groups. The periosteum was removed and dura mater was left intact. Animals were killed at 8 and 16 weeks posto...

Data: 2010   |   Origem: OASIS br

Emprego da fluorescência de raios X por dispersão de energia para o mapeamento ...

Col,José Augusto da; Bueno,Maria Izabel Maretti Silveira

Dendrochemistry is based on the determination of elements retained in tree rings, which can be useful to characterize environmental occurrences. This work shows elemental mappings obtained by EDXRF of the cross section of a tree stem. The tree is originated from a polluted area in Campinas, São Paulo. Some profiles, as the sulfur one, show variations that can be attributed to external contributions, whereas the...

Data: 2009   |   Origem: OASIS br

A construção do discurso dos sujeitos envolvidos com o processo de reforma psiq...

Bueno,Maria Lúcia da Silva; Caponi,Sandra

Pretende-se situar o discurso dos sujeitos envolvidos no processo de Reforma Psiquiátrica no município de Joinville/SC. Os discursos e as práticas necessitam ser elucidados e desvelados, pois na práxis cotidiana se constrói o conhecimento e se transforma a realidade. Como caminho metodológico utilizamos a pesquisa qualitativa, tipo estudo de caso, realizada por meio de entrevista aberta com roteiro semiestrutur...

Data: 2009   |   Origem: OASIS br

COL18A1 is highly expressed during human adipocyte differentiation and the SNP ...

Errera,Flavia I.V.; Canani,Luís H.; Yeh,Erika; Kague,Érika; Armelin-Corrêa,Lucia M.; Suzuki,Oscar T.; Tschiedel,Balduíno; Silva,Maria Elizabeth R.

Collagen XVIII can generate two fragments, NC11-728 containing a frizzled motif which possibly acts in Wnt signaling and Endostatin, which is cleaved from the NC1 and is a potent inhibitor of angiogenesis. Collagen XVIII and Wnt signaling have recently been associated with adipogenic differentiation and obesity in some animal models, but not in humans. In the present report, we have shown that COL18A1 expressio...

Data: 2008   |   Origem: OASIS br

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    Financiadores do RCAAP

Fundação para a Ciência e a Tecnologia Universidade do Minho   Governo Português Ministério da Educação e Ciência Programa Operacional da Sociedade do Conhecimento União Europeia