Encontrados 16 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...
Biochemical and molecular heterogeneity in carnitine palmitoyltransferase ii de...
Sousa, CarmenIntroduction: Carnitine palmitoytransferase II (CPTII) deficiency is a recessively inherited disorder of lipid metabolism. CPT II deficiency has several clinical presentations: the adult form is characterized by episodes of rhabdomyolysis, usually triggered by extensive exercice, cold, fever or prolonged fasting and the infantile-type CPT II hepatocardiomuscular form presents as severe attacks of hypoketotic...
Isolation of Gardnerella vaginalis from BV patients and healthy women : analysi...
Castro, J.; Alves, P.; Sousa, Cármen; Cereija, Tatiana; Cerca, NunoBacterial vaginosis (BV) is one of the most common gynaecological disorder affecting women in the reproductive age. Microbiological analysis of BV has shown Gardnerella vaginalis to be the most frequent organism in BV. However, G. vaginalis colonization do not always lead to BV. This raised the question whether there are pathogenic and commensal lineages within this species. In an effort to understand the diffe...
Gardnerella vaginalis virulence potential outcompetes with 30 other microorgani...
Alves, P.; Castro, J.; Sousa, Cármen; Cereija, Tatiana; Cerca, NunoBacterial vaginosis (BV) is the most common vaginal disorder affecting millions of women every year, and is usually associated with several adverse health outcomes, including preterm birth and acquisition of sexually transmitted diseases. However, the etiology of BV is still under debate. Recently, new fastidious anaerobic bacteria have been associated with BV, but there are very few studies that comprehensivel...
Functional analysis of virulence potential from Gardnerella vaginalis and other...
Castro, J.; Machado, António; Alves, P.; Sousa, Cármen; Cereija, Tatiana; França, Ângela; Jefferson, Kimberly K.; Cerca, NunoIn the past half century, bacterial vaginosis (BV) has been a controversial topic in medical microbiology, and despite the wealth of information on this topic, the etiological agent has not yet been definitively identified [1]. The first advances on BV pointed Gardnerella vaginalis as the infectious causative agent of BV [2] but soon after it was found that G. vaginalis was also present in healthy women [3]. Ad...
Analysis of gene expression variability in Staphylococcus epidermidis biofilms
Sousa, Cármen; França, A.; Cerca, NunoStaphylococcus epidermidis, a normal inhabitant of a human skin and mucosa, has emerged as one of the principle bacterial agents involved in nosocomial infections, particularly, in patients with indwelling medical devices. It’s pathogenesis is related with the ability to adhere and form biofilms on the surface of those medical devices and is also associated with patients’ immune system that can be compromis...
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...
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