National Institute of Health INSA

Porto, Portugal

National Institute of Health INSA

Porto, Portugal

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Westenbrink S.,National Institute for Public Health and the Environment RIVM | Roe M.,UK Institute of Food Research | Oseredczuk M.,French Agency for Food | Castanheira I.,National Institute of Health INSA | Finglas P.,UK Institute of Food Research
Food Chemistry | Year: 2015

A EuroFIR quality management framework was developed to assure data quality of food composition data, incorporating several recommendations developed or improved during the EuroFIR projects. A flow chart of the compilation process with standard operating procedures to assure critical steps was the starting point. Recommendations for food description, component identification, value documentation, recipe calculation, quality evaluation of values, guidelines to assess analytical methods, document and data repositories and training opportunities were harmonized as elements of the quality framework. European food composition database organizations reached consensus on the EuroFIR quality framework and started implementation. Peer reviews of the European compiler organizations were organized to evaluate the quality framework, focusing on what was achieved and on improvements needed. The reviews demonstrated that European food database compilers have made good use of standards and guidelines produced by EuroFIR, as well as a common understanding that a quality framework is essential to assure food composition data quality. © 2015 Elsevier Ltd.


Faustino-Rocha A.I.,Royal University | Rodrigues D.,Royal University | da Costa R.G.,University of Porto | Diniz C.,Royal University | And 8 more authors.
Environmental Toxicology | Year: 2016

Trihalomethanes (THMs) are disinfection byproducts found in chlorinated water, and are associated with several different kinds of cancer in human populations and experimental animal models. Metabolism of THMs proceeds through enzymes such as GSTT1 and CYP2E1 and gives rise to reactive intermediates, which form the basis for their toxic activities. The aim of this study was to assess the mitochondrial dysfunction caused by THMs at low levels, and the resulting hepatic histological and biochemical changes in the mouse. Male ICR mice were administered with two THMs: dibromochloromethane (DBCM) and bromodichloromethane (BDCM); once daily, by gavage, to a total of four administrations. Animals were sacrificed four weeks after DBCM and BDCM administrations. Blood biochemistry was performed for alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase (ALP), total bilirubin (TB), albumin (Alb), total protein (TP), creatinine, and urea. Animals exposed to DBCM and BDCM showed elevated ALT and TB levels (p < 0.05) as compared with controls. Histological analysis confirmed the presence of vacuolar degenerescence and a multifocal necrotizing hepatitis in 33% of animals (n = 2). Mitochondrial analysis showed that THMs reduced mitochondrial bioenergetic activity (succinate dehydrogenase (SQR), cytochrome c oxidase (COX), and ATP synthase) and increased oxidative stress (glutathione S-transferase (GST)) in hepatic tissues (p < 0.05). These results add detail to the current understanding of the mechanisms underlying THM-induced toxicity, supporting the role of mitochondrial dysfunction and oxidative stress in liver toxicity caused by DBCM and BDCM. © 2015 Wiley Periodicals, Inc. Environ Toxicol 31: 1009–1016, 2016. © 2015 Wiley Periodicals, Inc.


Tarantini A.,Agence Nationale de Securite Sanitaire | Huet S.,Agence Nationale de Securite Sanitaire | Jarry G.,Agence Nationale de Securite Sanitaire | Lanceleur R.,Agence Nationale de Securite Sanitaire | And 6 more authors.
Environmental and Molecular Mutagenesis | Year: 2015

Synthetic amorphous silica (SAS) in its nanosized form is now used in food applications although the potential risks for human health have not been evaluated. In this study, genotoxicity and oxidative DNA damage of two pyrogenic (NM-202 and 203) and two precipitated (NM-200 and -201) nanosized SAS were investigated in vivo in rats following oral exposure. Male Sprague Dawley rats were exposed to 5, 10, or 20 mg/kg b.w./day for three days by gavage. DNA strand breaks and oxidative DNA damage were investigated in seven tissues (blood, bone marrow from femur, liver, spleen, kidney, duodenum, and colon) with the alkaline and the (Fpg)-modified comet assays, respectively. Concomitantly, chromosomal damage was investigated in bone marrow and in colon with the micronucleus assay. Additionally, malondialdehyde (MDA), a lipid peroxidation marker, was measured in plasma. When required, a histopathological examination was also conducted. The results showed neither obvious DNA strand breaks nor oxidative damage with the comet assay, irrespective of the dose and the organ investigated. Similarly, no increases in chromosome damage in bone marrow or lipid peroxidation in plasma were detected. However, although the response was not dose-dependent, a weak increase in the percentage of micronucleated cells was observed in the colon of rats treated with the two pyrogenic SAS at the lowest dose (5 mg/kg b.w./day). Additional data are required to confirm this result, considering in particular, the role of agglomeration/aggregation of SAS NMs in their uptake by intestinal cells. © 2014 Wiley Periodicals, Inc.


Gomes Martins E.,Hospital Of Criancas Maria Pia | Santos Silva E.,Hospital Of Criancas Maria Pia | Vilarinho S.,Yale University | Saudubray J.M.,Neuro Metabolic Unit | Vilarinho L.,National Institute of Health INSA
Journal of Inherited Metabolic Disease | Year: 2010

Hyperargininemia is a rare inborn error of metabolism due to arginase deficiency, which is inherited in an autossomal recessive manner. Arginase is the final enzyme of the urea cycle and catalyzes the conversion of arginine to urea and ornithine. This condition typically presents in early childhood (between 2 and 4 years of age) with developmental delay associated with progressive spastic paraparesis. Neonatal presentation is very uncommon with a poorly described outcome. Here, we discuss two cases of neonatal cholestasis as initial clinical presentation of hyperargininemia. In case 1, diagnosis was established at 2 months of age upon investigation of the etiology of cholestatic injury pattern and hepatosplenomegaly, and treatment was then initiated at when the patient was 3 months old. Unfortunately, the patient had progressive biliary cirrhosis to end-stage liver disease complicated with portal hypertension for which she underwent successful orthotopic liver transplant at 7 years of age. In case 2, hyperargininemia was identified through newborn screening and treatment was started when patient was 21 days old. Cholestasis was only identified in the patient's further evaluation and it resolved 2 weeks into treatment. The patient is currently 18 months old and her development and neurological examination remain unremarkable. Neonatal cholestasis as first presentation of hyperargininemia is rare, but this disorder should be included in the differential diagnosis of unexplained cholestasis in the neonate. In fact, these two cases suggest that arginase deficiency may be the cause of cholestatic liver disease. © SSIEM and Springer 2011.


Vilarinho L.,National Institute of Health INSA | Rocha H.,National Institute of Health INSA | Sousa C.,National Institute of Health INSA | Marcao A.,National Institute of Health INSA | And 3 more authors.
Journal of Inherited Metabolic Disease | Year: 2010

Introduction The Portuguese Neonatal Screening Programme (PNSP) was started in 1979 for phenylketonuria (2,590,700 newborns screened; prevalence 1:11,031) and, shortly after, for congenital hypothyroidism (2,558,455 newborns screened; prevalence 1:3,174). In 2004, expanded neonatal screening was implemented in the National Laboratory. The programme is not mandatory and has 99.8% coverage of the country (including Madeira and the Azores islands). Material and methods In the past 4 years, 316,243 neonates were screened with the use of tandem mass spectrometry (MS/MS) to test for selected amino acids and acylcarnitines. Results During this time, 132 patients were identified with 24 different inherited metabolic diseases (classic forms and variants). To date, the global frequency for all disorders integrated into the PNSP is estimated to be 1:1,380, with 1:2,396 for metabolic disorders. A total of 379 tests (0.12%) were classified as having false positive results, yielding an overall specificity of 99.9%. Despite the low frequency of several disorders, the positive predictive value of the overall MS/MS screening was found to be 26%, reflecting high diagnostic specificity of the method. Diagnostic sensitivity of extended screening for the different groups of disorders was 100%. Eight cases of maternal disorders [three glutaric aciduria type I, one carnitine transporter defect, and four 3-methylcrotonyl coenzyme A (CoA) carboxylase deficiency] were also detected through newborn screening. Conclusions Our data support the advantage of a centralised laboratory for screening an elevated number of samples and making decisions if relying on a clinical network able to provide fast treatment and a good outcome in the screened cases. © SSIEM and Springer 2010.


PubMed | National Institute of Health INSA
Type: | Journal: Genetics research international | Year: 2012

The understanding of the molecular genetics in sensorineural hearing loss (SNHL) has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syndromic) and searched for variations in two frequent genes, GJB2 and GJB6, in the non-syndromic patients. Mutations in mtDNA were detected in 4.2% of the cases, including a hitherto undescribed change in the mtDNA-tRNA(Trp) gene (namely, m.5558A>G). We also identified mono- or biallelic GJB2 mutations in 20 of 53 non-syndromic cases and also detected two novel mutations (p.P70R and p.R127QfsX84). Our data further reinforce the notion that genetic heterogeneity is paramount in children with SNHL.


PubMed | Institute of Food Research IFR, National Institute for Public Health and the Environment RIVM, French Agency for Food, National Institute of Health INSA and UK Institute of Food Research
Type: | Journal: Food chemistry | Year: 2015

A EuroFIR quality management framework was developed to assure data quality of food composition data, incorporating several recommendations developed or improved during the EuroFIR projects. A flow chart of the compilation process with standard operating procedures to assure critical steps was the starting point. Recommendations for food description, component identification, value documentation, recipe calculation, quality evaluation of values, guidelines to assess analytical methods, document and data repositories and training opportunities were harmonized as elements of the quality framework. European food composition database organizations reached consensus on the EuroFIR quality framework and started implementation. Peer reviews of the European compiler organizations were organized to evaluate the quality framework, focusing on what was achieved and on improvements needed. The reviews demonstrated that European food database compilers have made good use of standards and guidelines produced by EuroFIR, as well as a common understanding that a quality framework is essential to assure food composition data quality.

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