Browsing by Issue Date, starting with "2019-03-14"
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- The moving targets of expanded newborn screening for inborn errors of metabolism: the experience in PortugalPublication . Marcão, AnaThe Portuguese programme for newborn screening (NBS) includes 26 diseases (Congenital Hypothyroidism, 24 metabolic disorders and Cystic Fibrosis), presenting an estimated overall incidence of 1: 1.100 affected newborns (NB). It was established in the late 70s, starting with phenylketonuria (PKU), and soon after, congenital hypothyroidism (CH) screening. Since 2004, the screening for inborn errors of metabolism (IEM) started to be done through tandem mass spectrometry (MS/MS) which allowed extension to 24 metabolic diseases. The global frequency of all IEM integrated into the programme is estimated to be 1: 2.253. As expected, an increase in the detection rate of IEM was observed after extended-NBS implementation. MCAD deficiency revealed to be the most frequent metabolic disorder screened by MS/MS in Portugal, with a frequency even higher than PKU (1: 7.499 and 1: 10.772, respectively). The detection of other diseases like carnitine uptake deficiency (CUD), very long chain acyl CoA dehydrogenase deficiency (VLCADD), carnitine palmitoyl translocase type I deficiency (CPTID) or carnitine palmitoyltranslocase type II deficiency (CPTIID), also started to be a reality. While for most of these diseases newborn screening revealed tremendously beneficial for newborns and families, in other cases like methylcrotonyl CoA carboxylase deficiency (MCCD) and methionineadenosyltransferase (MAT I/III) deficiency, the benefits are not equally evident and raise some questions about their inclusion in the panel of screened disorders, which since 2019 also includes Cystic Fibrosis. Enlarging the number of screened diseases, some of them demanding urgent clinical intervention in the first days of life, allowed the increase in the number of NBS-detected cases, but also brought additional challenges. Some subjects like the collection time frame, the time that it takes to arrive into the laboratory and the laboratory turnaround time became critical, and required special attention. Additional issues like specificity and sensitivity have also been carefully assessed along these years, and measures as the recent implementation of additional second tier tests for IEM screening allowed an important improvement in NBS-performance. Quality management is equally important and efforts have been made for ISO 15189 accreditation, which was already achieved for CH screening. Always attentive to new scientific and medical advances and to international recommendations, the Portuguese programme always tries to keep as an updated and dynamic program.
- Identification of polysaccharide capsules among extensively drug-resistant genitourinary Haemophilus parainfluenzae isolatesPublication . González-Díaz, Aida; Tubau, Fe; Pinto, Miguel; Sierra, Yanik; Cubero, Meritxell; Càmara, Jordi; Ayats, Josefina; Bajanca-Lavado, Paula; Ardanuy, Carmen; Marti, SaraThe human commensal Haemophilus parainfluenzae is emerging as an opportunistic multidrug-resistant pathogen. The objectives of this work were to characterise a new capsular operon of extensively drug-resistant (XDR) H. parainfluenzae clinical isolates and study their resistance mechanisms using whole-genome sequencing. All strains were resistant to: ß-lactams, via amino acid changes in PBP3 (S385T, I442F, V511A, N526K and V562I); quinolones, by alterations in GyrA (S84F and D88Y) and ParC (S84F and S138T); chloramphenicol, through the presence of catS; macrolides, via the presence of mel and mef(E)-carrying MEGA element; and tetracycline, through the presence of tet(M) and/or tet(B). Phylogenetic analysis revealed high genomic diversity when compared to the H. parainfluenzae genomes available on the NCBI, the isolates from this study being closely related to the Swiss XDR AE-2096513. A full capsular operon showing homology to that of H. influenzae was identified, in accordance with the observation of a capsular structure by TEM. This study describes for the first time a capsular operon in H. parainfluenzae, a major determinant of pathogenicity that may contribute to increased virulence in XDR clinical isolates. Moreover, phylogenetic analysis suggests the possible spread of an XDR-encapsulated strain in Europe.
- Pedido de teste VIH do conhecimento do médico de família na Rede Médicos-SentinelaPublication . Mendes, Liliana; Marques, Sara; Rodrigues, Ana PaulaDados recolhidos entre 1 de janeiro e 4 de outubro de 2018 relativos a pedidos de teste VIH do conhecimento do médico de família na Rede Médicos-Sentinela.
- Prescrição de Vitamina D em Portugal: estudo da Rede Médicos-SentinelaPublication . Rodrigues, Ana Paula; Mira, Manuela; Pina, NunoIntrodução: Vários estudos têm encontrado uma associação entre baixos níveis de vitamina D e diversas patologias (músculo-esqueléticas e não músculo-esqueléticas). No entanto, não existe consenso quanto aos valores que definem deficiência de vitamina D, nem quanto ao rastreio de populações de baixo risco e abordagem terapêutica. Em Portugal, tal como noutros países observou-se um aumento das prescrições de vitamina D. O objectivo deste estudo foi caracterizar a prescrição de Vitamina D em cuidados de saúde primários em Portugal.
- IncX4 plasmid carrying the new mcr-1.9 gene variant in a CTX-M-8-producing Escherichia coli isolate recovered from swinePublication . Manageiro, Vera; Clemente, Lurdes; Romão, Raquel; Silva, Catarina; Vieira, Luís; Ferreira, Eugénia; Caniça, ManuelaWe studied a commensal colistin-resistant Escherichia coli isolated from a swine cecum sample collected at a slaughter, in Portugal. Antimicrobial susceptibility phenotype of E. coli LV23529 showed resistance to colistin at a minimum inhibitory concentration of 4 mg/L. Whole genome of E. coli LV23529 was sequenced using a MiSeq system and the assembled contigs were analyzed for the presence of antibiotic resistance and plasmid replicon types using bioinformatics tools. We report a novel mcr-1 gene variant (mcr-1.9), carried by an IncX4 plasmid, where one-point mutation at nucleotide T1238C leads to Val413Ala substitution. The mcr-1.9 genetic context was characterized by an IS26 element upstream of the mcr-pap2 element and by the absence of ISApl1. Bioinformatic analysis also revealed genes conferring resistance to β-lactams, sulphamethoxazole, trimethoprim, chloramphenicol and colistin, corresponding to the phenotype noticed. Moreover, we highlight the presence of mcr-1.9 plus blaCTX-M-8, a blaESBL gene rarely detected in Europe in isolates of animal origin; these two genes were located on different plasmids with 33,303 and 89,458 bp, respectively. MCR-1.9-harboring plasmid showed high identity to other X4-type mcr-1-harboring plasmids characterized worldwide, which strongly suggests that the presence of PMCR-encoding genes in food-producing animals, such as MCR-1.9, represent a potential threat to humans, as it is located in mobile genetic elements that have the potential to spread horizontally.
- O teu cérebro em cores e formasPublication . Rasga, Célia; Vilela, JoanaPalestra e atividade interativa. Público-alvo 28 crianças do primeiro ciclo do ensino básico. No âmbito da Semana Internacional do Cérebro, a convite BioISI - Instituto de Biossistemas e Ciências Integrativas, Faculdade de Ciências da Universidade de Lisboa.
- Alimentos processados: aspectos nutricionais e toxicológicosPublication . Albuquerque, T.G.; Oliveira, M.B.P.P.; Costa, H.S.É relativo ao trabalho de doutoramento de Tânia Gonçalves Albuquerque, nutricionista no Departamento de Alimentação e Nutrição, que teve como principal objetivo desenvolver e aprofundar o conhecimento científico relativo à qualidade nutricional e segurança dos alimentos processados, com vista à identificação de áreas prioritárias de intervenção. Este estudo pretendeu ainda contribuir com informação fundamental para a formulação de políticas alimentares e de nutrição que visem melhorar o estado de saúde e nutricional da população.