Teste Repositóri
2014-01-01
Resultados de pesquisa
Foram encontrados 4.736 registos.
Comunicação científica a convite.
Prémio Jovem Investigador – Investigação Básica
This paper describes field measurements of indoor air quality (IAQ) parameters, performed in 19 Portuguese Children Day Care Centers (CDCC) during the springtime of 2011 and aims to characterize the indoor environment.
The results demonstrate an association between carbon dioxide and bacterial concentrations, which in turn are affected by the number of children present in each classroom. Indoor PM10 concentrations were higher than outdoor levels (I/O ratio>1) and was also found statistically significant association between PM10 concentrations and the type of floor covering materials.
These results provide evidence that IAQ is inadequate and, as a consequence, human source contaminants such as bacteria and carbon dioxide accumulate indoors. This study suggests that it is necessary to improve ventilation in order to achieve a heal...
Abstract nº 65, publicado no livro de resumos "The 2th International Vitamin Conference pela Technical University of Denmark (DTN)- National Food Institute.
There is strong evidence that rare copy number variants (CNVs) have a role in susceptibility to autism spectrum disorders (ASDs). Much research has focused on how CNVs mediate a phenotypic effect by altering gene expression levels. We investigated an alternative mechanism whereby CNVs combine the 5' and 3' ends of two genes, creating a 'fusion gene'. Any resulting mRNA with an open reading frame could potentially alter the phenotype via a gain-of-function mechanism. We examined 2382 and 3096 rare CNVs from 996 individuals with ASD and 1287 controls, respectively, for potential to generate fusion transcripts. There was no increased burden in individuals with ASD; 122/996 cases harbored at least one rare CNV of this type, compared with 179/1287 controls (P=0.89). There was also no difference in the overall frequency distribution between ...
So far, the presence of microcystins in Portuguese freshwater resources has always been attributed to the bloom-forming cyanobacteria Microcystis aeruginosa. In 2005, however, microcystins were detected at the Beliche reservoir (Algarve, South Portugal), following the development of a bloom dominated by Planktothrix rubescens. The identity of the causative organism was confirmed by combining both morphological and 16S rRNA gene sequence analysis. Its ability to produce microcystins was confirmed by HPLC and MALDI-TOF MS. Unlike M. aeruginosa that usually accumulates near the water surface, P. rubescens found at the Beliche reservoir accumulated only at deep water levels. Being invisible from the surface, the occurrence of toxic P. rubescens in freshwater resources requires special attention when designing site inspection and sampling p...
Introdução:
O diagnóstico pré-natal citogenético efetuado em líquido amniótico é um método seguro e fiável para deteção de anomalias cromossómicas fetais, sendo habitualmente realizado a partir das 15 semanas de gestação. Obtêm-se resultados, em média, após 8-10 dias de cultura dos amniócitos.
Objectivo:
Apresentar a estatística dos resultados obtidos na análise citogenética de líquidos amnióticos realizada na Unidade de Citogenética do Centro de Genética Médica Jacinto Magalhães entre 2000 e 2011, comparando-os com o descrito na literatura.
Material e métodos:
Entre janeiro de 2000 e dezembro de 2011 foram processados 10149 líquidos amnióticos. Os motivos para a realização da amniocentese foram, nomeadamente, idade materna avançada, anomalias ecográficas, marcadores ecográficos, rastreio bioquímico positivo, familiares com anomal...
Familial Hypercholesterolaemia is a genetic disorder characterized by an increase in TC and LDLC leading to premature atherosclerosis (ATH) and cardiovascular disorders (CVD) but not all FH patients develops premature CVD.
Early identification of FH patients at an even increased risk of developing CVD is important.
Genetic markers could improve risk stratification for this patients.
Inflammation has been considered to be involved in the pathogenesis of CVD and genetic and oxidative stress markers may also contribute to ATH and CVD outcome.
Toxic cyanobacteria are common in Portuguese freshwaters and are a cause of concern, given that exposure to subacute levels of cyanobacterial toxins through drinking and recreational water might have deleterious effects on human health. Since 1996 several laboratories have been involved in the screening of cyanotoxins in different freshwater bodies, some on regularly basis and others more sporadically. Here we summarized the main data obtained by our laboratory during the last years, in order to give a simplified overview of the quality and diversity of our freshwater resources in terms of cyanobacteria occurrence.
