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- New nutritional composition data on selected traditional foods consumed in Black Sea Area countriesPublication . Costa, H.S.; Albuquerque, T.G.; Sanches-Silva, A.; Vasilopoulou, E.; Trichopoulou, A.; D'Antuono, L.F.; Alexieva, I.; Boyko, N.; Costea, C.; Fedosov, S.; Hayran, O.; Karpenko, D.; Kilasonia, Z.; Finglas, P.BACKGROUND: Traditional foods are an important part of the culture, history, identity and heritage of a region or country and are key elements in dietary patterns. In most countries there is limited information on the nutritional composition of such foods and therefore there is a need to investigate, register and promote traditional foods. One of the aims within the ‘Sustainable exploitation of bioactive components from the Black Sea Area traditional foods’ (BaSeFood) project is to generate for the first time new data on the nutritional composition of traditional foods from six Black Sea Area countries to promote their sustainable development and exploitation. RESULTS: Thirty-three traditional foods were analysed in an accredited laboratory to determine their nutritional composition, and the data were fully documented. The nutrient content varied widely because of the nature and variety of the analysed foods. The energy content ranged between 4 kcal per 100 g for kvass southern and 900 kcal per 100 g for mustard oil, with the exception of the analysed teas, which did not contribute to energy intake. CONCLUSION: The use of a common methodology for the study of traditional foods will enable countries to further investigate these foods. Moreover, a new nutritional knowledge base of traditional foods from Black Sea Area countries will contribute to promote local biodiversity and sustainable diets by maintaining healthy dietary patterns within local cultures.
- Definition and documentation of traditional foods of the Black Sea Area Countries: potential nutrition claimsPublication . Dillis, V.; Vasilopoulou, E.; Alexieva, I.; Boyko, N.; Bondrea, A.; Fedosov, S.; Hayran, O.; Jorjadze, M.; Karpenko, D.; Costa, H.S.; Finglas, P.; Trichopoulou, A.BACKGROUND: Nutrition and health claims are permitted in foods marketed in the European Union under Regulation 1924/2006. Quality products such as traditional foods might benefit from this act, as it can highlight their nutritional richness. In this study the nutritional content of 33 traditional foods from the Black Sea Area Countries was evaluated against the thresholds of the Regulation for nutrition claims. RESULTS: Most of the foods were eligible to bear several nutrition claims, mostly related to their fat, sugar, fiber and sodium content. The average number of claims per traditional food was two, with a range between zero and nine. Overall, about 72 nutrition claims were potentially relevant for the 33 traditional foods studied. Foods linked with the most claims were nuts and seeds. CONCLUSION: The inclusion of traditional foods under this standardized European scheme could be an efficient way to highlight their possible beneficial nutritional properties. The production and marketing of traditional foods could be of benefit to both the health of consumers and the economic viability of producers, especially small- and medium-size enterprises.
- Caracterização dos mecanismos de resistência à ampicilina em estirpes clínicas de Haemophilus influenzae isoladas em Portugal entre o período de 2009 a 2012Publication . Barrulas Guilherme, Elsa; Lavado, Maria Paula Bajanca; Dias, Deodália Maria Antunes[PT] O Haemophilus influenzae (H. Influenzae) é uma bactéria Gram-negativa restrita ao aparelho respiratório humano, normalmente responsável por infeções respiratórias adquiridas na comunidade. A gravidade destas infeções resulta inicialmente num diagnóstico presuntivo, sendo posteriormente estabelecido um tratamento antibiótico empírico. A resistência desta bactéria aos antibióticos β-lactâmicos pode constituir sérias implicações a nível clínico, sendo que, o uso inapropriado destes antibióticos e a utilização de antibióticos de largo espectro têm contribuído grandemente para a emergência da resistência a esta classe de antibióticos. A resistência à ampicilina pode ser mediada por dois mecanismos: a produção de enzima β-lactamase, responsável pela inativação enzimática dos antibióticos β-lactâmicos, e pela presença de proteínas de ligação à penicilina alteradas que se traduz numa diminuição da afinidade aos mesmos. A amostra de 248 estirpes clínicas de H. influenzae foi selecionada com base na concentração inibitória mínima (CIM) à ampicilina, tendo como objetivo a caracterização dos mecanismos de resistência aos antibióticos β-lactâmicos em estirpes clínicas isoladas em Portugal. Foram estudadas 140 estirpes não produtoras de β-lactamase com CIM à ampicilina ≥1mg/L, 66 estirpes produtoras de β-lactamase com CIM≥8mg/L, e ainda um grupo controlo de 42 estirpes suscetíveis com CIM1mg/L. A sequência do gene ftsI foi amplificada e sequenciada para todas as estirpes. Da totalidade, 204 estirpes apresentavam mutações na região da transpeptidase do gene ftsI, nomeadamente 136 gBLNAR de 140 estirpes BLNAR, 24 gBLNAR de 42 estirpes BLNAS e 44 gBLPACR de 66 estirpes BLPAR. Foram identificados 40 padrões mutacionais que foram incluídos em grupos e subgrupos previamente descritos (I, IIa, IIb, IIc, IId e III-like). A análise destes padrões permitiu a classificação da maioria das estirpes no grupo mutacional II (78,5%), e as substituições aminoacídicas mais frequentes situavam-se próximo do domínio KTG: Val547Ile (88,7%), Asn526Lys (76,9%) e Asn569Ser (72,6%). A relação entre as mutações identificadas e os níveis de suscetibilidade à ampicilina permitiu constatar que 8,8% das estirpes eram suscetíveis, 8,8% eram resistentes devido à produção de β-lactamase (BLPAR), 64,5% eram resistentes pela alteração das PBPs, e 17,7% apresentavam ambos os mecanismos de resistência (BLPACR). Comparando estes resultados com os resultados obtido no período 2001-2008, verificou-se um aumento do número de estirpes suscetíveis à ampicilina, e também do número de estirpes resistentes com mutações no gene ftsI. Pela caracterização das estirpes e relação clonal entre as estirpes BLNAR e BLPACR por Multilocus Sequence Typing (MLST), verificou-se que as estirpes BLNAR apresentam uma grande heterogeneidade genética e que as estirpes BLPACR também não aparentam ter uma grande proximidade filogenética entre si.
- Simultaneous detection of West Nile and Japanese encephalitis virus RNA by duplex TaqMan RT-PCRPublication . Barros, S.C.; Ramos, F.; Zé-Zé, Líbia; Alves, M.J.; Fagulha, T.; Duarte, M.; Henriques, M.; Luís, T.; Fevereiro, M.West Nile virus (WNV) and Japanese encephalitis virus (JEV) are important mosquito-borne viruses of the Flaviviridae family, associated with encephalitis, mainly in humans and horses. WNV is also pathogen for many bird species. The incidence of human and animal WNV infections in Europe has risen, mostly in recent years, and JEV was detected in 2011 in mosquitoes collected in Italy and may emerge in Europe in the same way as other flaviviruses had emerged recently (USUTU and Bagaza virus) and should be regarded as a potential threat to public health. Prompt identification and discrimination between WNV and JEV provides critical epidemiological data for prevalence studies and public and animal health management policies. Here we describe a quantitative one-step duplex TaqMan RT-PCR, targeting non-structural protein 2A gene (NS2A-qRT-PCR), based on only one primer pair and two probes for differential diagnosis of WNV and JEV. Also this assay enables the detection of both WNV lineages (WNV-1 and WNV-2). To access the specificity of NS2A-qRT-PCR a panel of different arboviruses were used. The assay was shown to be specific for both WNV lineages (WNV-1 and WNV-2), WNV related Kunjin virus and JEV, since no cross-reactions were observed with other tested arboviruses. Sensitivity of the assay was determined using serial dilutions of in vitro-transcribed RNA from WNV and JEV. The duplex NS2A-qRT-PCR assay was shown to be very sensitive, being able to detect 10 copies of WNV and JEV RNA. This assay is a suitable tool for the diagnosis of WNV and JEV, and provides a valuable addition to the methods currently available for routine diagnosis of these zoonoses and for surveillance studies.
- Perda do cromossoma Y versus doenças hematológicas malignasPublication . Silva, Maria do Céu; Ambrósio, Ana Paula; Furtado, José; Correia, HildebertoA associação clínica entre a perda do cromossoma Y (PY) e as doenças hematológicas malignas é um tema controverso, uma vez que ambos os acontecimentos estão correlacionados com o envelhecimento. Tendo como objetivo, tentar obter uma correlação entre a perda do cromossoma Y e as diferentes doenças hematológicas malignas, procedeu-se a um estudo retrospetivo de 15 anos, dos resultados citogenéticos de 1241 indivíduos do sexo masculino identificados como portadores de uma doença hematológica maligna. Dos 1241 indivíduos analisados 78, (6,3%) apresentavam a perda do cromossoma Y. Dos 78 indivíduos que apresentavam perda do cromossoma Y, 18 (23%); 2 (2,6); 13 (16,6%); 10 12,8%); 31 (39,7%) e 4 (5,1%) estavam incluídos, respetivamente, nos grupos de Neoplasmas Mieloproliferativos (NM), Neoplasma Mielodisplásico/ Mieloproliferavo (SMD/NM), Síndrome Mielodisplásico (SMD), Leucemias Mieloides Agudas (LMA), Neoplasmas de Células B (NB) e Neoplasmas de Células T (NT). Pela mesma ordem a média de idades destes indivíduos foram: 65; 72; 73; 47; 71; 65. Não foram identificadas PY em indivíduos incluídos nos grupos de Leucemias Agudas de Linhagem Ambígua (LALA), Leucemias Linfoblásticas Agudas de Linhagem B ou T (LLB ou LLT) e Linfomas de Hodgkin. Quando para cada grupo se identificam as diferentes patologias, os valores poderão ser diferentes, realçando - se no grupo dos NM a patologia Leucemia Mielóide Crónica (LMC). Neste caso específico, 9 dos 18 indivíduos incluídos no grupo NM com PY, estão diagnosticados como LMC e a média de idades é próxima da estabelecida na bibliografia (5ª- 6ª década de vida) para esta patologia. O que sugere que a perda do Y neste caso, não seja um acontecimento dependente da idade, mas um fenómeno relacionado com a patologia. Existem 25 (32,1%) doentes em que para além da perda do cromossoma Y foi identificada outra anomalia citogenética associada. Existem poucos estudos que evidenciam a correlação entre a perda do cromossoma Y e as doenças hematológicas malignas, uma vez que são acontecimentos associados ao envelhecimento, contudo o nosso estudo mostra que a perda do cromossoma Y, poderá ser um fator a ter em consideração em algumas das doenças hematológicas malignas.
- Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expressionPublication . David, Dezső; Marques, Bárbara; Ferreira, Cristina; Araújo, Carlos; Vieira, Luís; Soares, Gabriela; Dias, Cristina; Pinto, MaximinaTrichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. Here we report the first familial TRPS I due to a t(8;13)(q23.3;q21.31) translocation breakpoint <100 kb from the 5’ end of TRPS1. Based on the additional abnormalities observed exclusively in the index patient that are mainly compatible with clinical features of TRPS, her phenotype was defined as expanded TRPS I including brain malformations and intellectual disability. Initial analyses did not reveal any genetic defect affecting TRPS1 or any genomic alteration within the breakpoint regions or elsewhere in the genome. The pathogenic chromosome 8q23.3 breakpoint is at position g.116,768,309_116,768,310 within a transposon type I element, 87 kb from the TRPS1 5’ end. The 13q21.31 breakpoint is within a tandem repeat region at position g.65,101,509_65,101,510 (genome assembly GRCh37/hg19). This breakpoint is flanked by protocadherin 9 (PCDH9) and protocadherin 20 (PCDH20). As an outcome of the translocation, an evolutionarily conserved non-coding VISTA enhancer element from 13q21.31 is placed within the TRPS1 5’ region, 1,294 bp from the breakpoint. The increased expression of TRPS1 found by three independent methods is most probably translocation allele derived and driven by the translocated enhancer element. The index patient’s expanded phenotype presumably involves the epithelial-to-mesenchymal transition pathway that may be due to TRPS1 overexpression. Together, these findings support that the reported translocation associated phenotypes are “cis-ruption” and TRPS1 overexpression related, the latter most probably caused by the novel enhancer element in the TRPS1 5’ region.
- Traditional foods from Black Sea region as a potential source of mineralsPublication . Albuquerque, T.G.; Costa, H.S.; Sanches-Silva, A.; Santos, M.; Trichopoulou, A.; D'Antuono, L.F.; Alexieva, I.; Boyko, N.; Costea, C.; Fedosova, K.; Karpenko, D.; Kilasonia, Z.; Koçaoglu, B.; Finglas, P.BACKGROUND: In the past few years, minerals have assumed great importance in public health. As a consequence, considerable research has been carried out to better understand their physiological role and the health consequences of mineral-deficient diets, to establish criteria for defining the degree of public health severity of malnutrition, and to develop prevention and control strategies. In most countries, there is limited information on the mineral content of traditional foods, and consequently it is very difficult to estimate mineral intake across these countries. RESULTS: Ten minerals were quantified in 33 traditional foods from Black Sea area countries. Our results indicate a considerable variability among the analysed traditional foods; nevertheless, the most abundant components were sodium (ranging from 40.0 to 619 mg 100 g−1, for kvass southern and herbal dish, respectively), potassium (varied between 45.5 mg 100 g−1 for millet ale and 938 mg 100 g−1 for roasted sunflower seeds), and phosphorus (22.2 mg 100 g−1 and 681 mg 100 g−1 for sauerkraut and roasted sunflower seeds, respectively). CONCLUSION: This is the first study that provides validated data on the mineral content for 33 traditional foods from Black Sea area countries, which is important in order to elucidate their role in the dietary pattern of populations and to preserve and promote these foods.
- Comparison of leafy kale populations from Italy, Portugal, and Turkey for their bioactive compound content: phenolics, glucosinolates, carotenoids, and chlorophyllsPublication . Ferioli, F.; Giambanelli, E.; D'Antuono, L.F.; Costa, H.S.; Albuquerque, T.G.; Sanches-Silva, A.; Hayran, O.; Koçaoglu, B.BACKGROUND: Kales are primitive leafy Brassica oleracea L. forms, widespread in local farming systems of several European countries and employed in the preparation of traditional recipes. Kales are also potential sources of healthy bioactive phytochemical components. The present study compared the bioactive compound content of kale populations from Italy, Portugal, and Turkey, either from local sources or grown in an experimental field. RESULTS: Total phenolics, glucosinolates (GLS), carotenoids, and chlorophylls were in the ranges 8310–38 110, 755–8580, 135–2354, and 1740–16 924 mg kg−1 dry matter, respectively. On average, locally harvested samples showed a total GLS content about twice as high as populations from the experiment. Conversely, pigments were significantly more abundant in experimental than in local kales, owing to the higher soil fertility. Portuguese samples showed higher phenolic and GLS amounts than Italian and Turkish kales, whereas some of the Italian samples were the richest in carotenoids. CONCLUSION: This paper represented the first cross-country comparison of local kale accessions with respect to bioactive compound amounts. Both geographic origin and growing environment appeared to be remarkable and discriminating factors in determining bioactive levels in leafy kales, with possible effects on their health-promoting and sensorial attributes.
- PARK2 deletions identified in patients with Autism Spectrum Disorder (ASD)Publication . Moura Vicente, Astrid; Grupo de Neurogenética e Saúde Mental
- A complex chromosomal rearrangement in a child with developmental delay, fractious behavior, and craniofacial anomalies, compatible with Smith-Magenis SyndromePublication . Simão, Laurentino; Alves, Cristina; Brito, Filomena; Marques, Bárbara; Ferreira, Cristina; Gaspar, Isabel; Dieudonne, V.; Cabral, P.; Meneses, I.; Duarte, Guida; Correia, HildebertoSmith-Magenis Syndrome (SMS) is a micro-deletion syndrome, and encompasses a picture of dysmorphology, mental defect, and fractious behavior. Evaluation of complex chromosome rearrangements (CCRs) and their potential phenotypic consequences is a common challenge in the genetics clinic and knowledge about the genotype/phenotype relationships are limited. We report the case of a 14-year-old boy who was referred by SMS, presenting developmental delay, fractious behavior, reduced sensitivity to pain, macrocranium and distinctive facial features. Following karyotyping, fluorescence in situ hybridization (FISH) using WCP probes for the chromosomes involved in CCR and 17p11.2 probe for SMS region was performed. Lately, chromosomal Comparative Genomic Hybridization (cCGH) and genomic microarray studies were also performed in order to identify genomic imbalances. The cytogenetic analysis revealed a karyotype: 46,XY,inv(3)(p23q27)t(3;10)(p13.2;p11.2),inv(14)(q13q32)dn.ish inv(3)t(3;10)(wcp10+), der(10)t(3;10)(wcp3+),inv(14)(wcp14+). Parental karyotypes were normal, although the father presented a marked cognitive delay. FISH analyses showed no deletion in 17p11.2 region and confirmed the cytogenetic results, namely the presence of CCR. Additionally, cCGH and genomic microarray studies did not reveal any gains/losses of genetic material in the breakpoints regions. Despite the clinical features of SMS, deletions or duplications in the SMS critical region were not detected in this patient. However, a small number of SMS present a mutation in the RAI1 gene instead of a 17p11.2 deletion, the former cause could not be excluded On the other hand, in CCRs de novo, an apparently balanced karyotype may be associated with an abnormal phenotype, including an increased risk of intellectual delay and congenital malformations. Further studies comprising, e.g., sequencing of the breakpoints, chromatin conformation analysis and refinement of the SMS critical region analysis might be useful to elucidate the phenotypic characteristics. However, the patient has been absent of routine clinical reevaluation; the etiology of the father’s cognitive delay could help shedding some light on the patient phenotypic features.