Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases

Aromatic L-amino acid decarboxylase (AADCD) deficiency is an autosomal recessive neurometabolic disorder, caused by biallelic mutations in the DDC gene, that impairs the synthesis or metabolism of neurotransmitters leading to severe motor dysfunction. The main clinical signs are oculogyric crisis, hypotonia, hypokinesia, and dystonia. The biochemical diagnosis can be performed in cerebrospinal fluid by neurotransmitter analysis, which requires an invasive lumbar puncture, and the sample needs to be shipped frozen to a reference laboratory, usually across a country border. Measurement of AADC activity in plasma is also possible, but available in a few labs globally. 3-O-methyldopa (3-OMD) is a catabolic product of L-dopa and it is elevated in patients with AADC deficiency. The quantification of 3-OMD can be performed in dried blood spots (DBS), a sample that could be shipped at room temperature. 3-OMD levels of AADCD patients and controls were quantified in DBS by liquid chromatography tandem mass spectrometry. DBS samples from 7 Brazilian patients previously diagnosed with AADCD were used to validate the 3-OMD quantification as a screening procedure for this condition. All AADCD patients had at least a four-fold increase of 3-OMD. Thus, 3-OMD seems to be a reliable marker for AADCD, with potential use also in the newborn screening of this disease

Conhecimento, Responsabilidade, Visão e Futuro: bases programáticas da Lista F para o 3.º mandato do Conselho Geral da Universidade de Évora 2016-20

O presente documento inclui o programa de acção e os elementos de campanha da Lista F, candidata ao 3.º mandato do Conselho Geral da Universidade de Évora (2016-20)

Integração de dados georreferenciados para caracterização de unidades fisiográficas

This work was conduced with the goal of to estimate the potentiality of eight variables: gray levels of 3, 4 and 5 band of TM/Landsat -5, numeric model of the terrain and 1 st , 2 nd , 3 rd and 4 th order channels lenghts using a multivariate analysis. It were generated, throught of cluster analysis, graphics with dendograms forms. Combined with data integration: IHS/RGB of TM/Landsat - image transformation, numeric terrain models and drainage. All these elements allowed to separate the physiographics units, after field works, and th soils map generation.Pages: 27-2