Encontrados 11 documentos, a visualizar página 1 de 2
Estudo piloto para o rastreio neonatal da fibrose quística
Lopes, Lurdes; Marcão, Ana; Carvalho, Ivone; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Vilarinho, LauraO Programa Nacional de Diagnóstico Precoce (PNDP) realiza-se em Portugal desde 1979, e atualmente inclui o rastreio neonatal de 24 Doenças Hereditárias do Metabolismo (DHM) e do Hipotiroidismo Congénito (HC). Em Outubro de 2013 iniciou-se, um estudo piloto para o rastreio neonatal da Fibrose Quística (FQ), que deverá ser efetuado em 80000 recém-nascidos (RN) portugueses ao longo de aproximadamente um ano. A Fib...
Diagnóstico precoce: resultados preliminares do rastreio metabólico alargado
Vilarinho, Laura; Rocha, Hugo; Marcão, Ana; Sousa, Carmen; Fonseca, Helena; Bogas, Mário; Osório, Rui VazResumoO Programa Nacional de Diagnóstico Precoce iniciou-se em 1979 com o rastreio da fenilcetonúria (PKU), passando em 1981 a incluir o rastreio do hipotiroidismo congénito (HC).Em 2005 foi iniciado o rastreio neonatal alargado a mais 13 doenças hereditárias do metabolismo por espectrometria de massa em tandem (MS/MS), num estudo piloto a realizar em 100.000 recém-nascidos. Até ao final do ano foram abrangidas...
3- Methylcrotonyl-coa Carboxylase Deficiency: Biochemical and Molecular Studies...
Fonseca, Helena; Sousa, Carmen; Marcão, Ana; Rocha, Hugo; Lopes, Lurdes; Vilarinho, Laura3-methylcrotonylglycinuria (MCG) is a disease included in the expanded newborn screening that until recently was considered a rare inherited disorder of the metabolism. In the catabolism of leucine, MCG is blocked in the fourth step due to deficiency of the enzyme 3-methylcrotonyl-CoA carboxylase (3-MCC) (Dantas et al). The biochemical diagnosis of disability in 3-MCC is characterized by marked increase of acid...
Molecular characterization of Methylmalonyl CoA mutase deficiency in patients i...
Marcão, Ana; Nogueira, Célia; Sousa, Carmen; Fonseca, Helena; Lopes, Maria de Lurdes; Rocha, Hugo; Vilarinho, LauraMethylmalonyl CoA mutase (MCM) deficiency due to mutations in MUT gene is a rare metabolic disorder with autosomal recessive inheritance. Based on the complete or partial absence of functional apoenzyme, two distinct biochemical phenotypes can be associated with MCM deficiency: mut0 and mut- forms, respectively. Patients presenting the mut0 form often develop, already in the first days of live, severe clinical...
Programa Nacional de Diagnóstico Precoce em Portugal- Casuística de 2011
Lopes, Lurdes; Sousa, Carmen; Fonseca, Helena; Carvalho, Ivone; Marcão, Ana; Rocha, Hugo; Vilarinho, LauraO Programa Nacional de Diagnóstico Precoce (PNDP) visa identificar doenças nas primeiras semanas de vida do bebé de forma a possibilitar uma intervenção precoce e a impedir a ocorrência de atraso mental, doença grave irreversível ou morte da criança. O PNDP iniciou-se em 1979 com o rastreio da fenilcetonúria tendo-se implementado em 1981 o rastreio do hipotiroidismo congénito. As novas tecnologias de espectrom...
3-Methylcrotonyl CoA Carboxylase Deficiency: Disorder or Just a Biochemical Phe...
Fonseca, Helena; Bueno, Maria; Sousa, Carmen; Marcão, Ana; Lopes, Lurdes; Rocha, Hugo; Vilarinho, LauraIntroduction: 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...
MAT I/III deficiency in Portugal: high frequency of R264H mutation in a small a...
Marcão, Ana; Nogueira, Célia; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Lopes, Lurdes; Martins, Esmeralda; Vilarinho, LauraIntroduction: Methionine adenosyltransferase deficiency (MAT I/III deficiency, OMIM 250850) is an inborn error of metabolism resulting in isolated hypermethioninemia and usually inherited as an autosomal recessive trait. A dominant form has been exceptionally reported, associated with a single mutation (R264H). Methods: MAT I/III deficiency is detected by newborn screening (NBS) as a differential diagnosis of ...
3-Methylcrotonylglycinuria: a new common mutation in the Portuguese population?
Fonseca, Helena; Sousa, Carmen; Marcão, Ana; Rocha, Hugo; Lopes, Lurdes; Vilarinho, LauraIntroduction: 3-Methylcrotonylglycinuria (MCG) is an inborn error of the leucine catabolism resulting from isolated biotin-insensitive deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC), the enzyme converting 3-methylcrotonoyl-CoA to 3-methylglutaconyl-CoA. The metabolic phenotype characterizing MCC deficiency is the elevated excretion of the diagnostic compounds 3-methylcrotonylglycine and 3-hydroxyisovale...
Prenatal diagnosis in severe cases: a new gain in Portuguese neonatal
Sousa, Carmen; Nogueira, Célia; Fonseca, Helena; Marcão, Ana; Rocha, Hugo; Lopes, Lurdes; Leão, Elisa; Garcia, Juliette; Couceiro, Ana BelaIntroduction The expansion of the Portuguese neonatal screening since 2004, based on MS/MS technology, allows the tracing of 25 diseases in all Portuguese newborns in one single laboratory. Following this expansion, the molecular study was also implemented for most diseases, thus allowing confirmation and prenatal diagnosis in severe cases. Methods Five prenatal diagnoses were made in pregnant women who had chi...
Dimensões da conjugalidade e as relações com as diferenças de sexo e de nível d...
Marcão, Ana Margarida GonçalvesTese de mestrado, Psicologia (Secção de Psicologia Clínica e da Saúde - Núcleo de Psicologia Clínica Sistémica), Universidade de Lisboa, Faculdade de Psicologia e de Ciências da Educação, 2008 ; A presente investigação quantitativa insere-se na área da Psicologia da Família, em particular, no âmbito da Conjugalidade. Pretende-se, numa amostra de 652 indivíduos portugueses casados ou em união de facto: 1) anali...
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