Browsing by Issue Date, starting with "2017-02-03"
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- Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry DiseasePublication . Azevedo, Olga; Gago, Miguel; Miltenberger-Miltenyi, Gabriel; Gaspar, Paulo; Sousa, Nuno; Cunha, DamiãoWe report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene, which occurs in the active site of the α-galactosidase A enzyme. This report highlights that (i) Fabry disease diagnosis should be considered in all cases of unexplained left ventricular hypertrophy (LVH), even in its milder forms; (ii) a complete evaluation of patients with unexplained LVH is important to find diagnostic red flags of treatable causes of LVH, such as Fabry disease; (iii) cascade family screening is paramount to the earlier diagnosis and treatment of other affected family members; and (iv) the Fabry disease phenotype is highly variable in heterozygote females, even within the same family.
- Portuguese Newborn Screening Program: 36 years at the service of public healthPublication . Lopes, Lurdes; Sousa, Carmen; Fonseca, Helena; Carvalho, Ivone; Marcão, Ana; Rocha, Hugo; Vilarinho, LauraNewborn screening programs have a key role in national public heath strategies, and have as main goal the detection of potentially fatal or disabling conditions in newborns, providing a window of opportunity for treatment, often before the infant displays any signs or symptoms of a disease or condition. Early detection and treatment can have a positive impact on the severity of the condition in the newborn. Portuguese Newborn Screening Program (PNSP) was established in late 70’s with the screening for phenylketonuria and congenital hypothyroidism, being available for all newborns in our Country and is performed in a single laboratory, which processes over 400 samples per day. Since the beginning, PNSP development is guided in respect to Wilson and Jungner criteria (WHO recommendations) with the purpose of maximizing the benefits/costs ratio. Throughout the last 35 years several pilot studies were undertaken, that in some cases resulted in the expansion of the number of screened disorders and others that don’t. Nowadays a total of 25 disorders are screened as part of PNSP (congenital hypothyroidism and a group of 24 metabolic disorders) being a pilot study for the newborn screening of cystic fibrosis in its final stage, with extremely promising results. Since its beginning, more that 3.5 million Portuguese newborns were screened (from 1993 the coverage rate is over 99%) and a total of 1.885 individuals were identified as being affected by one of the screened conditions. Birth prevalence’s are 1: 2.968 for congenital hypothyroidism; and 1: 2.283 for the group of metabolic disorders. Following the continuous improvement strategy implemented in the PNSP, future developments will depend on a permanent evaluation of new technical possibilities that could allow the detection of more treatable disorders as well as of the progresses in therapy effectiveness that may justify the screening of others. The positive impact of the PNSP in the newborn population and its continuous search for improvement makes it a key and leading hedge strategy in public health policies.
- Avaliação analítica do teor de carotenoides em produtos hortícolas e pratos compostos representativos do consumo da população portuguesaPublication . Almeida, Ana; Serra, Maria Celeste; Dias, Maria da GraçaNo presente trabalho determinaram-se os teores dos carotenoides, α-caroteno, β-caroteno, β-criptoxantina, licopeno, luteína e zeaxantina presentes em amostras, de produtos hortícolas e pratos compostos representativos da alimentação da população portuguesa, recolhidas no âmbito do projeto TDSEXPOSURE (Total Diet Stu dy Exposure – Estudo de dieta total para avaliação da exposição). Os resultados obtidos são um contributo para a avaliação da ingestão de carotenoides em Portugal. As amostras foram sujeitas a um procedimento analítico validado que incluiu etapas de extração, assim como de saponificação, quando o teor de gordura e/ou a presença de ésteres de carotenoide o justificou. A determinação dos analitos foi realizada através do método de cromatografia líquida de alta eficiência (HPLC) de fase reversa comdetetor DAD-UV/Vis e, a sua quantificação foi feita através de calibração externa e recorrendo também a um padrão interno. O desempenho do método analítico foi avaliado com dois tipos de materiais de referência, o material de referência certificado (NIST 2383) e o material de referência interno preparado no laboratório. Os resultados obtidos para z-score permitiram concluir que os valores medidos são exatos. O processo de homogeneização das amostras foi também avaliado estudando a homogeneidade da matriz alimentar tomate com pele e grainhas. A análise estatística dos resultados permitiu confirmar a homogeneidade das amostras. Os carotenoides que se encontraram na maioria das amostras foram o β-caroteno (0,018-14 mg/100 g) e a luteína (0,0014-8,2 mg/100 g). Em 25% das amostras não foi detetado qualquer carotenoide. O estudo sobre o efeito da sazonalidade no teor de carotenoides em produtos hortícolas recolhidos em duas estações do ano (outono e inverno) evidenciou alterações no teor de β -caroteno no feijão-verde, de luteína na couve-flor e de zeaxantina no pimento. A determinação da atividade pró-vitamina A evidenciou um maior valor de equivalentes de retinol (RE) para a cenoura (2710 µg/100 g).