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Background/purpose: Dental enamel defects are related to celiac disease and the dentists are in a perfect situation to identify and report suspected cases. The aim was to evaluate the symmetry of enamel defects in a pediatric Portuguese population with celiac disease and compare it with healthy controls. Materials and methods: a case-control study was performed in 80 patients with celiac disease and 80 healthy individuals aged 6–18 years old as controls. Data was collected by a questionnaire and clinical observation. Colour, type, and site of enamel defects were recorded and classified according to Aine criteria. Data analysis was performed, and any p-value

Objective: The identification of parental needs in Neonatal Intensive Care Units is essential to design and implement family-centered care. This article aims to validate the Neonatal Intensive Care Units Family Needs Inventory for the Portuguese population, and to propose a Short Form. Methods: A linguistic adaptation of the Neonatal Intensive Care Units Family Needs Inventory, a self-report scale with 56-items, was performed. The instrument was administered to 211 parents of infants hospitalized in all level III Neonatal Intensive Care Units in the North of Portugal, 15–22 days after admission (July of 2013–June of 2014). The number of items needed to achieve reliability close to 0.8 was calculated using by the Spearman–Brown formula. The global goodness of fit of the scale was evaluated using the comparative fit index. Construct validity was assessed through association of each dimension score with socio-demographic and obstetric characteristics. Results: Exploratory factor analysis revealed two dimensions, one focused on parents’ needs and another on the infant's needs. To compose the Short Form Inventory, items with ceiling effect were eliminated and 22 items were submitted to confirmatory analysis, which supported the existence of two dimensions (CFI = 0.925). The Short Form showed a high degree of reliability (alpha ≥ 0.76). Less educated and older parents more frequently attributed a significantly higher importance to parent-centered needs, while parents of multiples revealed a tendency to value infant-centered needs. Conclusions: The Short Form of the Neonatal Intensive Care Units Family Needs Inventory is a brief, simple, and valid instrument with a high degree of reliability. Further studies are needed to explore associations with practices of family-centered care. Resumo: Objetivo: A identificação de necessidades parentais em Unidades de Cuidados Intensivos Neonatais (UCINs) é essencial para planejar e implementar cuidados centrados na família. Este artigo pretende validar o Inventário de Necessidades da Família em UCIN na população portuguesa e propor uma Versão Curta do mesmo. Metodologia: Foi realizada uma adaptação linguística do Inventário de Necessidades da Família na UCIN, uma escala de autorrelato com 56 itens. O instrumento foi aplicado a 211 pais de bebês internados em todas as UCINs de nível III no Norte de Portugal 15 a 22 dias após a internação (julho de 2013-junho de 2014). O número de itens necessários para atingir uma confiabilidade próxima a 0,8 foi calculado pela fórmula de Spearman-Brown. A adequação global da escala foi avaliada pelo índice de ajuste comparativo (CFI). A validade de construto foi avaliada através da associação do escore de cada dimensão com características sociodemográficas e obstétricas. Resultados: A análise fatorial exploratória revelou duas dimensões, uma focada nas necessidades dos pais e outra, nas necessidades do bebê. Para compor a Versão Curta do Inventário, os itens com efeito teto foram eliminados, e 22 itens foram submetidos a análise confirmatória, que sustentou a existência de duas dimensões (CFI = 0,925). A Versão Curta apresentou alto grau de confiabilidade (alfa ≥ 0,76). Pais mais velhos e com menor escolaridade atribuíram, mais frequentemente, maior importância à subescala de necessidades centradas nos pais enquanto os pais de gêmeos revelaram uma tendência de valorizar as necessidades centradas nos bebês. Conclusões: A Versão Curta do Inventário de Necessidades da Família em UCIN é um instrumento breve, simples e válido com alto grau de confiabilidade. São necessários estudos adicionais para explorar as associações com práticas de cuidados centrados na família. Keywords: Neonatal intensive care units, Needs assessment, Parents, Validation studies as topic, Palavras-chave: Unidade de Cuidados Intensivos Neonatais, Avaliação de necessidades, Pais, Estudos de validação como assunto

© 2017 Asia Oceania Association for the Study of Obesity. Published by Elsevier Ltd. All rights reserved., Obesity is recognised as a serious public health issue, due to its associated morbidity and mortality. This study aimed at estimating the prevalence of overweight and obesity in the Portuguese population through direct measurements obtained by the 1st National Health Examination Survey (INSEF 2015) and to identify its associated sociodemographic factors. INSEF was a nationally representative cross-sectional prevalence study conducted on 4911 Portuguese adults aged 25-74 years, in 2015. Height and weight were measured according to the European Health Examination Survey procedures. Poisson regression was used to estimate the adjusted prevalence ratios of overweight and obesity according to age, marital status, occupational activity, education, urbanization of living area and smoking status. Overall prevalences of overweight and obesity were 39.1% and 28.6%, respectively. The prevalence of overweight was higher among men (45.5% vs 33.2%) while the prevalence of obesity was higher among women (32% vs 25%). The sociodemographic factors associated with overweight and obesity were age, marital status and education. Smoking status was associated with overweight and obesity but only in women. INSEF suggests that a high prevalences of overweight and obesity are found in older individuals, married, with lower education levels and non-smoking women. Public health interventions are urgently required for obesity prevention, namely throughout health literacy strategies., The authors are grateful to all the professionals involved in the INSEF fieldwork and to all the INSEF participants. INSEF was developed as part of the Pre-defined project of the Public Health Initiatives Program, ‘‘Improvement of epidemiological health information to support public health decision and management in Portugal. Towards reduced inequalities, improved health, and bilateral cooperation’’, that benefits from a 1.500.000D Grant from Iceland, Liechtenstein and Norway through the EEA Grants.

Introduction and objectives: We studied genotypic and allelic frequencies of polymorphisms that can affect platelet function, namely the Kozak, VNTR and HPA-2 polymorphisms of glycoprotein Ibα, the PlA polymorphism of glycoprotein IIIa and the C807T polymorphism of glycoprotein Ia, in a Portuguese population composed of 227 donors. Methods: PCR-RFLP was used to assess the Kozak, HPA-2, PlA and C807T polymorphisms. The VNTR polymorphism was discriminated by different weight bands on electrophoresis. Results: All genotypic frequencies were in Hardy-Weinberg equilibrium and do not differ from other Caucasian populations. Genotypic frequencies were 68.3%, 26.9% and 4.8% for PlA1/A1, PlA1/A2 and PlA2/A2 genotypes of the PlA polymorphism, 79.3%, 20.3% and 0.4% for TT, TC and CC genotypes of the Kozak polymorphism, 81.1%, 18.9% and 0.0% for aa, ab and bb genotypes of the HPA-2 polymorphism, 15.4%, 0.9%, 70.5%, 11.5%, 1.3% and 0.4% for BC, BD, CC, CD, DD and CE genotypes of the VNTR polymorphism, and 39.7%, 50.2% and 10.1% for CC, CT and TT genotypes of the C807T polymorphism. Conclusions: The Portuguese population has now been characterized in terms of major platelet glycoprotein polymorphisms, which will be an important tool for further studies to assess the role of platelet glycoproteins in individual predisposition to prothrombotic conditions and response to antithrombotic therapy. Resumo: Introdução e objetivos: Neste estudo determinámos as frequências alélicas e genotípicas de 5 polimorfismos que poderão afetar a funcionalidade plaquetária, nomeadamente os polimorfismos Kozak, VNTR e HPA-2 da glicoproteína Ibα, o polimorfismo PlA da glicoproteína IIIa e o polimorfismo C807T da glicoproteína Ia numa população portuguesa constituída por 227 dadores voluntários. Métodos: A técnica de PCR-RFLP foi usada para determinar os polimorfismos Kozak, HPA-2, PlA e C807T. O polimorfismo VNTR foi discriminado através do padrão eletroforético criado por bandas de peso molecular diferente. Resultados: As frequências genotípicas encontram-se dentro do equilíbrio de Hardy-Weinberg e não diferem estatisticamente de outras populações caucasianas. As frequências genotípicas encontradas foram 68,3, 26,9 e 4,8% para os genótipos PlA1/A1, PlA1/A2 e PlA2/A2 do polimorfismo PlA, 79,3, 20,3 e 0,4% para os genótipos TT, TC e CC do polimorfismo Kozak, 81,1, 18,9 e 0,0% para os genótipos aa, ab e bb do polimorfismo HPA-2, 15,4, 0,9, 70,5, 11,5, 1,3 e 0,4% para os genótipos BC, BD, CC, CD, DD e CE do polimorfismo VNTR, e 39,7, 50,2 e 10,1% para os genótipos CC, CT e TT do polimorfismo C807T. Conclusões: A população portuguesa encontra-se, assim, caracterizada no que respeita aos polimorfismos das principais glicoproteínas plaquetárias, o que poderá servir como ferramenta importante de estudos futuros que avaliem o papel das glicoproteínas plaquetárias na predisposição individual a condições pró-trombóticas e resposta à terapia antitrombótica. Keywords: Platelet glycoprotein polymorphisms, Glycoprotein Ib-IX-V, Glycoprotein Ia-IIa, Glycoprotein IIb-IIIa, Palavras-chave: Polimorfismos das glicoproteínas plaquetárias, Glicoproteína Ib-IX-V, Glicoproteína Ia-IIa, Glicoproteína IIb-IIIa

The main objective of this work consisted of the updating of allele frequencies and other relevant forensic parameters for the 17 autosomal STR loci provided by the combination of the two types of kits used routinely in our laboratory casework: AmpF/STR Identifiler(®) and the Powerplex(®) 16 Systems. This aim was of significant importance, given that the last study on these kits within the southern Portuguese population dates back to 2006, and, as a consequence, it was necessary to correct the deviation caused by population evolution over the last ten years so that they might be better applied to our forensic casework. For this reason genetic data from 5362 unrelated Caucasian Portuguese individuals from the south of Portugal who were involved in paternity testing casework from 2005 to 2014 was used. Of all the markers, TPOX proved to be the least polymorphic, and Penta E the most. Secondly, this up-to-date southern Portuguese population was compared not only with the northern and central Portuguese populations, but also with that of southern Portugal in 2006, along with populations from Spain, Italy, Greece, Romania, Morocco, Angola and Korea in order to infer information about the relatedness of these respective populations, and the variation of the southern Portuguese population over time. info:eu-repo/semantics/acceptedVersion

Introdução: A literacia para a saúde (LS) pode ser considerada como um conjunto de competências em que as pessoas se apropriam, compreendem, avaliam e utilizam informação e conhecimento para a saúde para fazer escolhas informadas, reduzir riscos para a sua saúde, manter o estado nutricional sadio e aumentar a qualidade de vida. Objetivos: avaliar o nível de literacia para a saúde; analisar a relação das variáveis sociodemográficas com a LS; classificar o Índice de Massa Corporal (IMC) e determinar o efeito da LS no IMC. Desenho: Estudo de natureza quantitativa com enfoque descritivo e corte transversal, realizado na zona centro e norte de Portugal. Participantes: Amostra não probabilística de 508 participantes portugueses com 44,48 anos como média de idade (DP=21 anos). Instrumentos de Medida: A LS foi avaliada através do Questionário Europeu de Literacia para a Saúde (HLS-EU-PT) validado em português por Saboga-Nunes e Sorensen (2013) 1 e a classificação do IMC seguiu os referenciais da WHO aceites por Portugal, DGS (2013). 2 Resultados: Apurou-se que no global, 73,62% dos participantes apresentam um nível de literacia para a saúde inadequado e problemático, sendo este significativamente mais baixo nas mulheres (p=0,000). Os participantes com inadequada LS, são os que apresentam maior índice de IMC (x^2= 78,09; p=0,000), logo correndo riscos para um estado de saúde optimizado. Conclusões: Os resultados sugerem uma relação significativa entre a LS e o IMC. Verifica-se que, quanto melhor for o LS, mais adequado é o IMC. Estas evidências reforçam a importância da promoção da literacia para a saúde nos portugueses. Abstract: Introduction: Literacy for health (LH) may be considered a set of skills that people appropriate, understand, evaluate and use information and knowledge of health to make informed choices, reduce risks to their health, maintain a healthy nutritional status and enhance quality of life. Objectives: To assess the level of literacy for health; analyse the relationship of sociodemographic variables with LH; to classify the Body Mass Index (BMI) and to determine the effect of LH on BMI. Design: a quantitative study with a descriptive and cross-sectional approach conducted in the centre and north of Portugal. Particnipants: a non-probabilistic sample of 508 Portuguese participants with a mean age 44.48 years (SD = 21 years). Measuring instruments: LH was assessed by the European Questionnaire on Literacy for Health (LHS-EU-PT) validated in Portuguese by Saboga-Nunes and Sorensen (2013) and BMI classiÀ cation followed the WHO reference accepted by Portugal, DGS (2013). Results: It was found that overall, 73.62% of the participants have an inappropriate and problematic level of literacy for health; this was significantly lower in women (P = .000). Participants with inadequate LH, are those with higher BMI (x2 = 78.09; P = .000), so are at risk of a sub-optimal state of health. Conclusions: The results suggest a signiÀ cant relationship between the LH and BMI. It is found that, the better the LH, the more appropriate is the BMI. This evidence reinforces the importance of promoting literacy for health to the Portuguese population.

The occurrence of zearalenone (ZEA) in different flours for human consumption, from the Portuguese and Dutch markets, was evaluated. Good analytical performance was obtained through extraction with acetonitrile:water (90:10), clean-up with immunoaffinity columns, and detection and quantification by liquid chromatography-fluorescence detection. ZEA levels were determined in 48 samples to verify the compliance with the maximum permitted levels by European legislation. Two flour samples from Portugal exceeded the maximum limit established by EC. A major presence and levels in maize flours was shown. Coimbra (Portugal) and Utrecht (The Netherlands) samples showed that 37.5% of the samples were contaminated. Considering the percentage of TDI, ranging between 5.2 and 56%, the risk assessment linked with the exposure to ZEA was considered to be of concern for some studied populations, especially for babies. This is the first study on the intake assessment of ZEA present in different types of flour through their consumption.

This study investigated whether the Portuguese population is at risk of exceeding ADI levels for acesulfame-K, saccharin, aspartame, caffeine, benzoic and sorbic acid through an assessment of dietary intake of additives and specific consumption of four types of beverages, traditional soft drinks and soft drinks based on mineral waters, energetic drinks, and nectars. The highest mean levels of additives were found for caffeine in energetic drinks, 293.5 mg/L, for saccharin in traditional soft drinks, 18.4 mg/L, for acesulfame-K and aspartame in nectars, with 88.2 and 97.8 mg/L, respectively, for benzoic acid in traditional soft drinks, 125.7 mg/L, and for sorbic acid in soft drinks based on mineral water, 166.5 mg/L. Traditional soft drinks presented the highest acceptable daily intake percentages (ADIs%) for acesulfame-K, aspartame, benzoic and sorbic acid and similar value for saccharin (0.5%) when compared with soft drinks based on mineral water, 0.7%, 0.08%, 7.3%, and 1.92% versus 0.2%, 0.053%, 0.6%, and 0.28%, respectively. However for saccharin the highest percentage of ADI was obtained for nectars, 0.9%, in comparison with both types of soft drinks, 0.5%. Therefore, it is concluded that the Portuguese population is not at risk of exceeding the established ADIs for the studied additives.

AD e DR: bolseiros FCT. Chitotriosidase is an enzyme secreted by activated macrophages and a useful biomarker in several lysosomal and nonlysosomal diseases. However, chitotriosidase gene (CHIT1) mutations may lead to inaccuracy in the significance of this biomarker. Reports on the molecular spectrum of genetic variation in chitotriosidase are rare, and this is one of the few that focus on a specific population group. In this work we assessed the variation of CHIT1 mutations in ten normal controls and detected six missense alterations. G102S, a polymorphism with known altered catalytic properties, was the most frequent being detected in 4/10 individuals. Using allelic discrimination we tested 503 individuals, randomly sampled from the Portuguese population. Variant G102S was detected in 49.5% of the individuals and presented an allele frequency of 0.29. The results of this study showed that variability in CHIT1 gene is considerable and that G102S polymorphism presents a high frequency in the Portuguese. Financed by national funds through the FCT/MCTES. Project PIC/IC/82822/2007 (2009).

© 2011 Sociedade Portuguesa de Cardiologia. Published by Elsevier España, S.L. All rights reserved., Background: Sarcomeric hypertrophic cardiomyopathy has heterogeneous phenotypic expressions, of which sudden cardiac death is the most feared. A genetic diagnosis is essential to identify subjects at risk in each family. The spectrum of disease-causing mutations in the Portuguese population is unknown. Methods: Seventy-seven unrelated probands with hypertrophic cardiomyopathy were systematically screened for mutations by PCR and sequencing of five sarcomeric genes: MYBPC3, MYH7, TNNT2, TNNI3 and MYL2. Familial cosegregation analysis was performed in most patients. Results: Thirty-four different mutations were identified in 41 (53%) index patients, 71% with familial hypertrophic cardiomyopathy. The most frequently involved gene was MYBPC3 (66%) with 22 different mutations (8 novel) in 27 patients, followed by MYH7 (22%), TNNT2 (12%) and TNNI3 (2.6%). In three patients (7%), two mutations were found in MYBPC3 and/or MYH7. Additionally, 276 relatives were screened, leading to the identification of a mean of three other affected relatives for each pedigree with the familial form of the disease. Conclusions: Disease-associated mutations were identified mostly in familial hypertrophic cardiomyopathy, corroborating the idea that rarely studied genes may be implicated in sporadic forms. Private mutations are the rule, MYBPC3 being the most commonly involved gene. Mutations in MYBPC3 and MYH7 accounted for most cases of sarcomere-related disease. Multiple mutations in these genes may occur, which highlights the importance of screening both. The detection of novel mutations strongly suggests that all coding regions should be systematically screened. Genotyping in hypertrophic cardiomyopathy enables a more precise diagnosis of the disease, with implications for risk stratification and genetic counseling., Introdução: A miocardiopatia hipertrófica sarcomérica (MH) tem expressão fenotípica heterogénea, sendo a morte súbita cardíaca a mais temida. O diagnóstico genético é fundamental para identificar os indivíduos em risco em cada família. O perfil genético da doença é desconhecido na população portuguesa. População e métodos: Estudaram-se geneticamente 77 doentes-índice com MH, não relacionados, pesquisando-se, por PCR e sequenciação, mutações nos genes MYBPC3, MYH7, TNNT2, TNNI3 e MYL2. Efetuou-se análise de co-segregação familiar na maioria dos doentes. Resultados: Identificaram-se 34 mutações diferentes em 41 doentes-índice (53%), 71% com MH familiar. O gene mais frequentemente envolvido foi o MYBPC3 (66%), identificando-se 22 mutações diferentes (8 novas) em 27 doentes-índice. Seguiram-se os genes MYH7 (22%), TNNT2 (12%) e TNNI3 (2,6%). Em 3 doentes (7%) identificaram-se 2 mutações nos genes MYBPC3 e/ou MYH7. Estudaram-se também 276 familiares detetando-se, em média, mais 3 indivíduos em risco, em cada pedigree com MH familiar. Conclusões: Foram identificadas mutações associadas a MH maioritariamente na doença familiar, reforçando a ideia corrente de as formas esporádicas estarem associadas a genes raramente estudados. A maioria das mutações é privada de cada família. O gene MYBPC3 é o mais frequentemente afetado. As mutações neste gene e no gene MYH7 são responsáveis pela maioria das situações de MH. Podem existir mutações múltiplas nestes genes, sendo mandatório o seu rastreio. A identificação de mutações novas aconselha a rastrear sistematicamente todas as regiões codificadoras. O estudo genético na MH permite um diagnóstico mais preciso da doença, determinante para a estratificação do risco e para o aconselhamento genético.

Ochratoxin A (OTA) is a mycotoxin produced by a variety of fungi, such as Penicillium verrucosum and Aspergillium spp., which has been found to have a wide number of potentially deadly toxic effects, and can enter the human organism through a variety of means. It then finds its way into the bloodstream and, after a lengthy process, is eventually excreted through the urine. It can thus be detected in its original form not only in blood samples but also in this biological medium. As such, and in an attempt to evaluate the exposure of the Portuguese population to this mycotoxin, morning urine samples were collected during the Winter of 2007, from each of five geographically distinct Portuguese locations — Bragança, Porto, Coimbra, Alentejo, and Algarve — and subjected to extraction by immunoaffinity columns and to OTA quantification through liquid chromatography coupled with fluorescence detection. Prevalent incidence was higher than 95% with Coimbra being the exception (incidence of 73.3%). In nearly all locations, the OTA content of most samples was found to be above the limit of quantification (LOQ) of 0.008 ng/ml. Indeed, excluding Coimbra, with an OTA content level of 0.014 ng/ml, all regions featured content values over 0.021 ng/ml. FCT