Teste Repositóri
2014-01-01
Resultados de pesquisa
Foram encontrados 4.736 registos.
Publicado em: The Proceedings of the XIIIth International Symposium on Amyloidosis,
May 6-10, 2012, Groningen, The Netherlands
PURPOSE: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries.
METHODS: A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition software that generates tools integrating multiple clinically significant results into a single score. This score is determined by the overlap between normal and disease ranges, penetration within the disease range, differences between conditions, and weighted correction factors.
RESULTS: Ninety tools target either a single condition or the differential diagnosis between multiple conditions. Scores are expressed as the percentile rank among all cases with the same condition and are compared to interpretation guidelines. Retrospe...
A research project on antiviral drug resistance of influenza viruses circulating in Portugal has been carried out since 2007. Here, the first results obtained regarding the evaluation of susceptibility to amantadine and oseltamivir are presented. Information about antiviral prescription and exposure was available through the National Influenza Surveillance Programme. Amantadine susceptibility was evaluated by
pyrosequencing for known resistance markers on 178 influenza A strains from 2004/2005 to 2006/2007. Susceptibility to oseltamivir was evaluated by 50% inhibitory concentration determination on 340 virus strains from 2004/2005 to 2008/2009, 134 of which were further analyzed by sequencing of the neuraminidase gene. This study revealed that influenza antiviral drugs were rarely prescribed at national level. Resistance to amantadine...
Human adenoviruses (AdVs) typically cause mild illnesses in otherwise healthy hosts. We investigated a pediatric outbreak of acute respiratory infection with fatal outcomes that occurred in Lisbon, Portugal, in 2004.Biological specimens were collected from 83 children attending two nurseries, a kinesiotherapy clinic, and the household of a nanny. Adenovirus infection was confirmed in 48 children by PCR and virus isolation. Most(96%) isolates were classified as being of subspecies B1. Phylogenetic analysis of fiber and hexon gene sequences revealed that most infants were infected with AdV serotype 3 (AdV3) strains. Infants attending one nursery harbored a new recombinant strain containing an AdV serotype 7 hexon and serotype 3 fiber (AdV7/3). Both the AdV3 and the AdV7/3 strains caused fatal infections. Two different serotype 3 strains ...
Among the various cis-acting elements in mRNAs that participate in regulating protein synthesis are AUG codons within transcript leader sequences (uAUGs) and, in some cases, associated short upstream open reading frames (uORFs). Although about 15% of the human mRNAs present uORFs (mainly, those transcripts encoding growth factors or hormones), there is no general model for the mechanism by how and when an uORF downregulates the main ORF expression. Leaky scanning and reinitiation are mechanisms that allow translational control of the main ORF in a transcript bearing at least one uORF. In the leaky scanning mechanism ribosomes either ignore the uAUG codon and scan past it or recognize it, initiating translation. Short regulatory uORFs may also permit the small ribosomal subunit to stay mRNA-bound after termination and resume scanning fo...
Familial hypercholesterolemia (FH) results from defects in the hepatic uptake and degradation of LDL via the LDL-receptor pathway, common caused by a loss-of-function mutation in the LDLR receptor gene (LDLR), by mutations in the gene enconding apolipoprotein B (APOB) or rare dominant gain-of-function mutations in a member of the proprotein convertase family (PCSK9). However, mutations which encodes a protein required for clathrin-mediated internalization of the LDLR (LDLRAP1) by the liver, has also been described as a recessive form of FH. The presence of mutations in other genes (CYP7A1, enzyme that catalyses the first step in the hepatic catabolism of cholesterol, and SREBP-2, a transcription factor that bind to the sterol regulatory element ) have been described, but these are very rare causes of hypercholesterolaemia.
In the Por...
The LDL receptor (LDLR) is a glycoprotein that mediates binding and internalization of cholesterol-rich lipoproteins from plasma. Mutations in the LDLR gene are the major cause of familial hypercholesterolaemia (FH), which results in impaired catabolism of circulating LDL. This common autosomal inherited metabolism disorder leads to premature atherosclerosis and increased risk of CHD. Many different mutations (currently more than 1300) have been identified in FH patients, but not all give rise to a defective LDLR.
Familial Hypercholesterolaemia (FH) is a genetic disorder that leads to an increase in levels of total and low density lipoprotein cholesterol promoting atherosclerosis (ATH) and premature cardiovascular disease (CVD). ATH and CVD are multifactorial disorders depending on both genetic and environmental factors and inflammation has been considered to be involved in the pathogenesis of ATH and CVD, namely the activity of pro-inflammatory cytokines and acute phase proteins. Also, there are other risk factors contributing to the development and progression of ATH and CVD as genetic and oxidative stress markers.
Nonsense-mediated mRNA decay (NMD) is a quality control mechanism that detects and rapidly degrades mRNAs carrying premature translation-termination codons (PTCs). Mammalian NMD depends on both splicing and translation, and requires recognition of the premature stop codon by the cytoplasmic ribosomes. Surprisingly, some published data have suggested that nonsense codons may also affect the nuclear metabolism of the nonsense-mutated transcripts. To determine if nonsense codons could influence nuclear events, we have directly assessed the steady-state levels of the unspliced transcripts of wild-type and PTC-containing human β-globin genes stably transfected in mouse erythroleukemia (MEL) cells, after erythroid differentiation induction, or in HeLa cells. Our analyses by ribonuclease protection assays and reverse transcription-coupled qua...
TITLE: PORTUGUESE FOOD MICROBIOLOGICAL INFORMATION NETWORK: THE MUTUAL BENEFITS OF INFORMATION SHARE
CURRENT CATEGORY: Risk Assessment
Introduction: The National Institute of Health launched the Portuguese Food Microbiological Information Network (RPIMA) to collect, standardize, gather and analyse food microbiological and epidemiological data from scientific literature, stakeholders and data producers. All steps of food chain were considered in order to obtain global information, for the first time at national level and in useful time, to be available for data users.
Purpose: Identification and characterization of benefits of food share information for all food chain stakeholders, from farm to fork (Food production, Universities, Politic, Public health, Education, Consumption, Laboratories and Risk management).
Methods: Meet...
