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- Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High LandsPublication . Martins, E.; Marcão, A.; Bandeira, A.; Fonseca, H.; Nogueira, C.; Vilarinho, L.Methionine adenosyltransferase deficienc(MAT I/III deficiency) is an inborn error of metabolism resulting in isolated hypermethioninemia, and usually inherited as an autosomal recessive trait, although a dominant form has been reported in several families. During the last 6 years, approximately 520,000 newborns were screened in the Portuguese Newborn Screening Laboratory by MS/MS, and 21 cases of persistent hypermethioninemia were found. One case was confirmed to be a deficiency of cystathionine b-synthase and 20 cases were confirmed by MAT1A gene analysis to have an elevation of methionine due to MAT I/III deficiency, which indicates an incidence for this condition of 1/26,000. Twelve of the MAT I/III deficient newborns, belonging to 11 families, were identified in the northern region of Portugal and sent to the same treatment center, where they are under follow-up. Clinical, biochemical, and genetic characteristics of individuals from these 11 families are presented. Plasma methionine and homocysteine concentrations were found to be moderately increased in all newborns, and molecular analysis revealed that they all were heterozygous for R264H mutation. Normal growth,development, and neurological examination were observed in all cases, and cerebral MRI performed in six cases revealed myelination abnormalities in one case. Plasma methionine concentration for all 12 cases was always below 300 mM, and they are all on a normal diet for their age.
- O papel da Unidade de Citogenética do INSA no estudo das doenças hematologicasPublication . Correia, Hildeberto; Ambrósio, Ana Paula; Geraldes, Maria do Céu
- Immune cells and hepatocytes express glycosylphosphatidylinositol-anchored ceruloplasmin at their cell surfacePublication . Marques, L.; Auriac, A.; Willemetz, A.; Banha, J.; Silva, B.; Canonne-Hergaux, F.; Costa, L.Ceruloplasmin is a positive acute-phase protein with both anti- and pro-oxidant activities, thus having still unclear physiological functions in inflammatory processes. Importantly, ceruloplasmin has been implicated in iron metabolism due to its ferroxidase activity, assisting ferroportin on cellular iron efflux. Ceruloplasmin can be expressed as a secreted or as a membrane glycosylphosphatidylinositol-anchored protein (GPI-ceruloplasmin), this latter one being reported as expressed mostly in the brain.
- Conhecimentos e hábitos alimentares considerando as recomendações para hipertensos medicados imigrantes e nativos seguidos nos cuidados de saúde e primários da Região de Lisboa: determinantes da adesão às recomendações de fruta, hortícolas e peixePublication . Cardoso, I.; Guerra, F.; Pinto, A.; Alarcão, V.; Fernandes, M.; Guiomar, S.; Nicola, P.; Rocha, E.
- CitogenéticaPublication . Silva, Marisa
- Lack of Cystatin B Protein as a Cause Of Myoclonic EpilepsyPublication . Amaral, O.; Duarte, A.; Pinto, E.; Freitas, J.; Chaves, J.Unverricht-Lundborg disease (ULD; MIM 254800) is the most frequent cause of progressive myoclonic epilepsy. CSTB mutations (locus 21q22.3; MIM 601145), with cystatin B loss of function and subsequent loss of lysosomal association, have been described as the major cause of this disease.
- Diphtheria in the Postepidemic Period, Europe, 2000–2009Publication . Wagner, Karen; White, Joanne; Lucenko, Irina; Mercer, David; Crowcroft, Natasha; Neal, Shona; Androulla, Efstratiou; Diphtheria Surveillance NetworkDiphtheria incidence has decreased in Europe since its resurgence in the 1990s, but circulation continues in some countries in eastern Europe, and sporadic cases have been reported elsewhere. Surveillance data from Diphtheria Surveillance Network countries and the World Health Organization European Region for 2000–2009 were analyzed. Latvia reported the highest annual incidence in Europe each year, but the Russian Federation and Ukraine accounted for 83% of all cases. Over the past 10 years, diphtheria incidence has decreased by >95% across the region. Although most deaths occurred in disease-endemic countries, case-fatality rates were highest in countries to which diphtheria is not endemic, where unfamiliarity can lead to delays in diagnosis and treatment. In western Europe, toxigenic Corynebacterium ulcerans has increasingly been identified as the etiologic agent. Reduction in diphtheria incidence over the past 10 years is encouraging, but maintaining high vaccination coverage is essential to prevent indigenous C. ulcerans and reemergence of C. diphtheriae infections.
- D1 - Data Standardisation. Electronic transmission of chemical occurrence data - CFP/EFSA/DATEX/2011/01Publication . Lopes, Ana; Ravasco, Franscisco; Oliveira, LuísaThis document describes the encoding and mapping strategy for chemical occurrence data from the Portuguese authorities, how the Standard Sample Description is populated, the transformations required to support the standard terminology supplied by EFSA and how these transformations will be maintained in the future.
- Molecular biology versus conventional methods – Complementary methodologies to understand occupational exposure to fungiPublication . Viegas, C.; Malta-Vacas, J.; Sabino, R.
- Borrelia garinii and Francisella tularensis subsp. holarctica detected in migratory shorebirds in PortugalPublication . de Carvalho, Isabel Lopes; Alves, Ana Sofia; Pardal, Sara; Lopes, Ricardo Jorge; Mendes, Luísa; Núncio, Maria Sofia; Zé-Zé, LíbiaMigratory shorebirds use, among many, the East Atlantic Flyway that links breeding areas as north as Tundra habitats to aquatic wintering grounds in West Africa. As a consequence, they are potentially important in the spread of global zoonotic diseases transmitted by ticks, such as Lyme borreliosis and tularemia—two diseases previously detected in Portugal. In this study, we looked at the infection status of seven populations of shorebirds during their migration, breeding, or wintering in the Portuguese wetlands to access if they carry these pathogens and to discuss their potential risk in the Portuguese wetlands. A total of 212 migratory shorebirds captured in the Tagus and Sado estuaries; key staging and wintering sites in this flyway and important breeding areas for some species were analyzed for the presence of Borrelia burgdorferi sensu lato and Francisella tularensis. In the present study, B. garinii was identified in seven (3%) specimens (five black-tailed godwits Limosa limosa, one common redshank Tringa totanus, and one little stint Calidris minuta), whereas F. tularensis subsp. holarctica was identified in one (0.4%) little stint. To our knowledge, this is the first evidence that shorebirds that migrate through or winter in Portugal transport these pathogens, potentially contributing for their introduction along the flyway, including the Mediterranean region.
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