Browsing by Issue Date, starting with "2017-01"
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- Assessment methodologies for food safety: agglomerated cork stopperssPublication . André, Catarina; Bordado, João Carlos Moura; Castanheira, IsabelA cortiça é uma matéria-prima nobre, cuja principal aplicação é a rolha de cortiça. O trabalho desta tese fez parte do projeto LIRACork cujo objetivo foi a introdução de rolhas de cortiça aglomerada com ligantes inócuos nos mercados europeu e americano. Existem poucos estudos científicos com estes materiais, a sua utilização e a sua importância económica. No entanto, novos materiais que utilizam desperdícios de cortiça têm sido desenvolvidos com variadas aplicações. Pré-polímeros de isocianato, precursores de poliuretanos, são utilizados para ligar os grânulos de cortiça, originando os aglomerados de cortiça. Para determinar e quantificar isocianatos livres foi desenvolvido um método utilizando a técnica de UPLC-PDA-Flu com pré derivatização. A cura incompleta de isocianatos monoméricos presentes nos ligantes pode originar aminas aromáticas primárias que foram determinadas por UPLC-MS / MS. A avaliação de contaminantes inorgânicos em rolhas de cortiça e rolhas de cortiça aglomerada, é também uma questão importante sobre a segurança alimentar. No entanto, há poucos regulação e estudos sobre esta questão. Assim, todos os passos do processo foram estudados. Antes deste projeto não existia nenhuma entidade em Portugal, capaz de realizar análises que garantissem a segurança alimentar de cortiça aglomerada. Após esse projeto, e com o trabalho desta tese, o INSA é agora capaz de efetuar as referidas análises. Assim, não é necessário aos fabricantes de rolhas técnicas enviarem os seus produtos para analisar no exterior.
- Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyPublication . Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D; Kožich, Viktor; Blom, Henk; Baumgartner, Matthias R; Dionisi-Vici, CarloBackground: Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions. Objective: To summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management. Data sources: Review, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach. Key recommendations: We strongly recommend measuring plasma total homocysteine in any patient presenting with the combination of neurological and/or visual and/or haematological symptoms, subacute spinal cord degeneration, atypical haemolytic uraemic syndrome or unexplained vascular thrombosis. We strongly recommend to initiate treatment with parenteral hydroxocobalamin without delay in any suspected remethylation disorder; it significantly improves survival and incidence of severe complications. We strongly recommend betaine treatment in individuals with MTHFR deficiency; it improves the outcome and prevents disease when given early.
- System Biology Approach for Cardiovascular MedicinePublication . Mariano, Cibelle; Antunes, Marília; Bourbon, MafaldaObjectives: This research project proposes the study of associaFons and/or interacFons between geneFc, nongeneFc and environmental factors and its effects on a very important dyslipidaemia marker, apolipoprotein B (apoB) levels, by modelling geneFc predisposiFon, biological and environmental components (such as lifestyle and behavioral variables) with apoB serum levels. It is also proposed the characterisaFon of the lipid and geneFc cardiovascular risk profiles of the Portuguese populaFon, as well as the correlaFon between dyslipidaemia and other cardiovascular risks and biochemical markers.
- Heterogenicity of the LAL-D phenotypes – Is there a common denominator?Publication . Bourbon, MafaldaLAL-D, rare genetic disorder of lysosome metabolism.
- Gene-environment interactions in Autism Spectrum Disorders (ASD)Publication . Xavier Santos, João; Rasga, Célia; Parisi, Andrea; Nunes, Ana; Vicente, A.M.Objectives: 1. To identify specific exposure patterns to environmental toxicants, potentially involved in ASD etiology, in a dataset of Portuguese children diagnosed with ASD aged 7-9 years; 2. To identify genetic variants interacting with environmental and epigenetic factors; 3. To build a global model that integrates genetic, environmental and epigenetic factors for risk assessment in ASD.
- Practical Guidelines for Studies on Sandfly-Borne Phleboviruses: Part II: Important Points to Consider for Fieldwork and Subsequent Virological ScreeningPublication . Huemer, Hartwig; Prudhomme, Jorian; Amaro, Fatima; Baklouti, Amal; Walder, Gernot; Alten, Bulent; Moutailler, Sara; Ergunay, Koray; Charrel, Remi N.; Ayhan, NazliIn this series of review articles entitled "Practical guidelines for studies on sandfly-borne phleboviruses," the important points to be considered at the prefieldwork stage were addressed in part I, including parameters to be taken into account to define the geographic area for sand fly trapping and how to organize field collections. Here in part II, the following points have been addressed: (1) factors influencing the efficacy of trapping and the different types of traps with their respective advantages and drawbacks, (2) how to process the trapped sand flies in the field, and (3) how to process the sand flies in the virology laboratory. These chapters provide the necessary information for adopting the most appropriate procedures depending on the requirements of the study. In addition, practical information gathered through years of experience of translational projects is included to help newcomers to fieldwork studies.
- Estrogen catechols detection as biomarkers in schistosomiasis induced cancer and infertilityPublication . Botelho, M.C.; Alves, H.; Richter, J.Urogenital schistosomiasis is a chronic infection caused by the human blood fluke Schistosoma haematobium. Schistosomiasis haematobium is a known risk factor for cancer leading to squamous cell carcinoma of the urinary bladder (SCC). This is a neglected tropical disease endemic in many countries of Africa and the Middle East. Schistosome eggs produce catechol-estrogens. These molecules are metabolized to active quinones that cause alterations in DNA (leading in other contexts to breast or thyroid cancer). Our group have shown that schistosome egg associated catechol estrogens induce tumor-like phenotypes in urothelial cells, originated from parasite estrogen-host cell chromosomal DNA adducts and mutations. Here we review recent findings on the role of estrogen-DNA adducts and how their shedding in urine may be prognostic of schistosome infection and/or represent potential biomarkers for urogenital schistosomiasis associated bladder cancer and infertility.
- Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countriesPublication . Santos, R.D.; Bourbon, M.; Alonso, R.; Cuevas, A.; Vasques-Cardenas, N.A.; Pereira, A.C.; Merchan, A.; Alves, A.C.; Medeiros, A.M.; Jannes, C.E.; Krieger, J.E.; Schreier, L.; Perez de Isla, L.; Magaña-Torres, M.T.; Stoll, M.; Mata, N.; Dell Oca, N.; Corral, P.; Asenjo, S.; Bañares, V.G.; Reyes, X.; Mata, P.; Ibero-American Familial Hypercholesterolemia NetworkBACKGROUND: There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region. OBJECTIVE: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay. METHODS: Descriptive analysis of country data related to FH cascade screening, molecular diagnosis, clinical practice guidelines, and patient organization presence in Ibero-America. RESULTS: From a conservative estimation of an FH prevalence of 1 of 500 individuals, there should be 1.2 million heterozygous FH individuals in Ibero-America and roughly 27,400 were diagnosed so far. Only Spain, Brazil, Portugal, and Uruguay have active cascade screening programs. The prevalence of cardiovascular disease ranged from 10% to 42% in member countries, and the highest molecular identification rates are seen in Spain, 8.3%, followed by Portugal, 3.8%, and Uruguay with 2.5%. In the 3 countries with more FH patients identified (Spain, Portugal, and Brazil) between 10 and 15 mutations are responsible for 30% to 47% of all FH cases. Spain and Portugal share 5 of the 10 most common mutations (4 in low density lipoprotein receptor [LDLR] and the APOB3527). Spain and Spanishspeaking Latin American countries share 6 of the most common LDLR mutations and the APOB3527. LDL apheresis is available only in Spain and Portugal and not all countries have specific FH diagnostic and treatment guidelines as well as patient organizations. CONCLUSIONS: Ibero-American countries share similar mutations and gaps in FH care.
- Guidelines for the Detection of Rickettsia spp.Publication . Portillo, A.; de Sousa, R.; Santibánez, S.; Duarte, A.; Edouard, S.; Fonseca, I.P.; Marques, C.; Novakova, M.; Palomar, A.M.; Santos, M.; Silaghi, C.; Tomassone, L.; Zúquete, S.; Oteo, J.A.The genus Rickettsia (Rickettsiales: Rickettsiaceae) includes Gram-negative, small, obligate intracellular, nonmotile, pleomorphic coccobacilli bacteria transmitted by arthropods. Some of them cause human and probably also animal disease (life threatening in some patients). In these guidelines, we give clinical practice advices (microscopy, serology, molecular tools, and culture) for the microbiological study of these microorganisms in clinical samples. Since in our environment rickettsioses are mainly transmitted by ticks, practical information for the identification of these arthropods and for the study of Rickettsia infections in ticks has also been added.
- Identification of novel biomarkers to distinguish polygenic and monogenic dyslipidemiaPublication . Correia, Marta; Gama-Carvalho, Margarida; Bourbon, MafaldaObjectives: This project aims to identify novel biomarkers to distinguish polygenic and monogenic dyslipidaemia, by an integrative approach, based on the detailed characterization of the lipid profile ID of patients with severe dyslipidaemia. This is expected to contribute to an early and accurate diagnosis, allowing the implementation of a successful therapeutic plan that can be applied still in childhood to effectively abolish/decrease the patient’s cardiovascular risk.
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