Browsing by Author "Oliveira, Pedro"
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- External Quality Assessment Schemes in Pathology in Portugal (PNAEQ-Labquality) 2013-2014Publication . Correia, Helena; Faria, Ana Paula; Brito, Cristina; Cardoso, Ana; Elo, Tanja; Wahlstedt, Juha; Laurila, Pekka; Oliveira, PedroSince 2001, the Portuguese external quality assessment program (PNAEQ) has been working with Labquality and a consortium of Investigation and Development was established in 2013. In 2009, the Histopathology and Immunochemistry schemes were the first programs available in the area of Pathology. Clinical cytology and Technology schemes were introduced during the following years. Initially, the number of participants was very low. Knowing that participation on EQAs programs allows monitoring of the laboratories’ performance it was necessary to invest in the education of laboratory personnel to insure the competence of the laboratory’s technicians and their ability to provide reliable and accurate results. PNAEQ and Labquality and their Pathology Experts made efforts promoting awareness of these programs by organizing meetings in 2014 and 2015, for all the Portuguese Pathology laboratories with the collaboration of the College of Portuguese Pathologists. These meetings were very successful since almost all of the 37 Portuguese pathology laboratories participated and a total of 41 participants were present. The agenda was about the importance of Quality Control in general, EQA schemes as a way to compare one’s own results with those of piers and finally to distribute information about the requirements for the accreditation of pathology laboratories.
- Hipotiroxinemia em recém-nascidos pré-termoPublication . Moreira, Amélia; Neves, Joana; Vilarinho, Laura; Osório, R. Vaz; Oliveira, Pedro; Costeira, Maria JoséIntrodução: A hipotiroxinemia é a disfunção tiroideia mais frequente em recém-nascidos prematuros e foi implicada em défices do neurodesenvolvimento e aumento da morbimortalidade perinatal. Pode ser definida por níveis sanguíneos de tiroxina total (T4T) dois desvios-padrão (DP) abaixo da média, ou abaixo de um limiar de 6 μg/dL, com tirotropina (TSH) normal ou baixa. Objectivos: Determinar a prevalência da hipotiroxinemia e correlacioná-la com a morbilidade neonatal durante as primeiras semanas de vida. Métodos: Estudo retrospectivo que incluiu os neonatos consecutivos com peso de nascimento ≤ 1500 g e/ou idade gestacional ≤ 30 semanas, de Janeiro de 2006 a Setembro de 2007. Foram excluídos os nados em outras instituições ou falecidos antes dos três dias de vida. Foram analisados os processos clínicos. O rastreio metabólico (incluindo TSH e T4T) foi efectuado ao 3º e ao 15º dia de vida. Resultados: Foram incluídos 38 recém-nascidos (idade gestacional: 28 ± 2,3 semanas, peso ao nascimento: 1133 ± 254 gramas). Os valores de T4T (no 3º dia) foram de 5,53 ± 3,17 μg/dL e correlacionaram-se positivamente com a idade gestacional e peso. Não se encontrou correlação com a TSH. No 3º dia de vida, 60,5% dos recém-nascidos apresentaram T4T <6 μg/dL, com TSH normal ou baixa. Em relação ao resto da amostra, os prematuros com valores mais baixos de T4T evidenciaram diferenças significativas quanto a períodos de internamento mais longos, ventilação durante mais tempo e mais alterações na ecografia transfontanelar. Conclusões: Encontrou-se elevada prevalência de hipotiroxinemia em prematuros e associação com pior prognóstico neonatal. Assim, impõe-se a necessidade de estudos mais alargados e da avaliação sistemática da função tiroideia, por exemplo pela repetição do rastreio às duas semanas de vida.
- Mutation frequency of three neurodegenerative lysosomal storage diseases: from screening to treatment?Publication . Amaral, Olga; Duarte, Ana Joana; Ribeiro, Diogo; Oliveira, PedroBackground: The ascertainment of mutation frequencies in the general population may have impact on the population’s wellbeing and respective healthcare services. Furthermore, it may help define which approaches will be more effective for certain patients based on the genetic cause of disease. Aim of the Study: Determine the frequency of three mutations, known to be a major cause of three distinct Lysosomal Storage Diseases (LSDs). Methods. The following pre-requisites were met: each mutation accounted for over 55% of the disease alleles among previously reported unrelated patients, all three diseases were among the most prevalent LSDs in the population under study, they all involved devastating deterioration of the nervous system, lacked curative treatment and may be fatal in childhood or adolescence. The anonymous samples used in this study were representative of the whole population; mutations were tested by PCR based methods, positive results were further confirmed. The diseases studied were Mucopolysaccharidosis type I (Hurler, MIM 607014), Tay Sachs disease variant B1 (TS, MIM 272800) and Metachromatic Leukodystrophy (MLD, MIM 250100); the mutations were, respectively, p.W402X, p.R178C and c.465þ1GOA. Results and Conclusion: Increased carrier frequencies were found for Tay Sachs disease variant B1 HEXA p.R178C mutation (1:340) and for the infantile MLD ARSA c.465þ1GO A mutation (1:350) denoting higher risk for these sub-types of disease in Portugal and possibly in individuals of Iberian ancestry. Carrier screening in target populations may provide the foundations for more effective approaches to precision medicine.