Browsing by Author "Mota, C."
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- Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.Publication . Barbosa, M.; Lopes, A.; Mota, C.; Martins, E.; Oliveira, J.; Alves, S.; De Bonis, P.; Mota, M. do C.; Dias, Carlos Matias; Rodrigues-Santos, P.; Fortuna, A.M.; Quelhas, D.; Lacerda, L.; Bisceglia, L.; Cardoso, M.L.Cystinuria is a rare autosomal inherited disorder characterized by impaired transport of cystine and dibasic aminoacids in the proximal renal tubule. Classically, Cystinuria is classified as type I (silent heterozygotes) and non-type I (heterozygotes with urinary hyperexcretion of cystine). Molecularly, Cystinuria is classified as type A (mutations on SLC3A1 gene) and type B (mutations on SLC7A9 gene). The goal of this study is to provide a comprehensive clinical, biochemical and molecular characterization of a cohort of 12 Portuguese patients affected with Cystinuria in order to provide insight into genotype–phenotype correlations. We describe seven type I and five non-type I patients. Regarding the molecular classification, seven patients were type A and five were type B. In SLC3A1 gene, two large genomic rearrangements and 13 sequence variants, including four new variants c.611-2A>C; c.1136+44G>A; c.1597T (p.Y533N); c.*70A>G, were found. One large genomic rearrangement was found in SLC7A9 gene as well as 24 sequence variants including 3 novel variants: c.216C>T (p.C72C), c.1119G>A (p.S373S) and c.*82C>T. In our cohort the most frequent pathogenic mutations were: large rearrangements (33.3% of mutant alleles) and a missense mutation c.1400T>C ( p.M467T) (11.1%). This report expands the spectrum of SLC3A1 and SLC7A9 mutations and provides guidance in the clinical implementation of molecular assays in routine genetic counseling of Portuguese patients affected with Cystinuria.
- Proximate composition of plant origin traditional foods from Black Sea Area CountriesPublication . Albuquerque, T.G.; Costa, H.S.; Sanches-Silva, A.; Fontes, T.; Mota, C.; Santos, M.; Vasilopoulou, E.; Trichopoulou, A.; D’Antuono, F.; Alexieva, I.; Fedosova, K.; Karpenko, D.; Kilasonia, Z.; Kocaoglu, B.; Koval, N.; Stroia, A.L.; Finglas, P.Within the frame of the European Project BaSeFood (Sustainable Exploitation of Bioactive Components Black Sea Area traditional foods), thirty-three traditional foods from six Black Sea Area Countries (Bulgaria, Georgia, Romania, Russian Federation, Turkey and Ukraine) were selected and prepared according to the traditional recipe, ingredients and traditional preparation methods. The aim is to promote and preserve traditional foods and to produce new and reliable data of the overall nutritional composition. Water content is being determined by gravimetric method, using a dry air oven at 101 °C ± 2 °C for 2 h, until constant weight. Total fat is being performed with an acid hydrolysis method followed by extraction using a Soxhlet with petroleum ether, as the extraction solvent. The obtained residue is dried for 1 h 30 min at 101 °C ± 2 °C, until constant weight, according to the acid hydrolysis method. Total dietary fibre, ash and total protein content are being determined by the AOAC official methods 985.29, 945.46 and 991.20, respectively. Total nitrogen for protein content is being determined by the Kjeldahl method in combination with a copper catalyst using a block digestion system. To assure the quality of analytical results, methods used in the laboratory are accredited by ISO/IEC/17025 or successful participation in proficiency testing schemes. Herbs, spices, aromatic plants and fermented products are those which presented the highest water content. In contrast, products from oilseeds have the lowest water content (3.94 g/100 g) and the highest total fat (58.2 g/100 g), total protein (20.8 g/100 g), ash (3.25 g/100 g), total sugars (45.8 g/100 g) and total dietary fibre (11.3 g/100 g) contents. For cereals and cereals based foods, a great variability in the water content was found (5.99 to 75.8 g/100 g). All results are given per 100 g of edible portion. Traditional foods from the same group have generally similar proximate analysis pattern. In the products from oilseeds, the highest content in macronutrients was found, except for water content. The proximates composition will be useful to include new nutritional data into national food composition databases.
- Proximate composition of traditional vegetable and fruit based foods from Black Sea Area countriesPublication . Costa, H.S.; Albuquerque, T.G.; Fontes, T.; Mota, C.; Vasilopoulou, E.; D’Antuono, F.; Alexieva, I.; Hayran, O.; Kaprelyants, L.; Karpenko, D.; Kilasonia, Z.; Pauk, A.; Stroia, A.L.; Finglas, P.In the last years, there has been an increased consumers interest and demand for traditional foods, which have an important role in the diets. Traditional foods can also be a valuable contribution to the development and economic sustainability of rural areas and the preservation of biodiversity. The aim of this study was to determine the proximate composition in traditional vegetable and fruit based recipes from Black Sea Area countries, in the frame of the European Project BaSeFood. The determination of the nutritional composition of selected traditional foods from Bulgaria, Georgia, Romania, Russian Federation, Turkey and Ukraine is being carried out within the frame of the BaSeFood Project. Six foods from the vegetables group were analysed: Ukrainian borsch; Transcarpathian green borsch; Nettle sour soup; Nettles with walnut sauce; Rodopian dried beans and Kale soup. From the fruits group, five traditional foods were analysed: Uzvar; Plums jam; Churchkhela; Rose jam and Fruit of the evergreen cherry laurel. Water content, ash, total protein, total fat, total sugars and total dietary fibre are being determined at an accredited laboratory by ISO/IEC 17025 or by successful participation in Proficiency testing schemes. Most vegetable based foods have water and ash content higher than fruits. The values for water ranged from 14.2 to 92.4 g/100 g for Rose jam and Nettle sour soup, respectively. With respect to total fat content, generally fruit based foods have lower levels (< 0.15 g/100 g) than vegetables (5.02 g/100 g). For total protein, Nettles with walnut sauce presented the highest content (9.6 g /100 g) and Rose jam the lowest content (0.3 g/100 g). For total dietary fibre, the values varied between 0.3 and 6.44 g/100 g. All analytical values are expressed per 100 g of edible portion. The proximate composition of the selected traditional foods from Black Sea Area Countries is important in order to elucidate their role in the dietary pattern of populations. The analysed samples present a high moisture content and low fat content. Foods with high water content are usually low in calories. Therefore, vegetable and fruit based traditional foods are not energy dense foods, while they are considered rich in other essential nutrients.
- Quality control materials development for proximate composition determination in baby foods to enhance the Portuguese food composition database: Packaging conditionsPublication . Castanheira, I.; António, C.; Mota, C.; André, C.; Sanches-Silva, A.Food matrix reference materials play an important role in the quality of data used in food composition databanks concerning the precision, trueness and accuracy of analytical values. In this work the feasibility studies according to ISO 34 (ISO, 2000) of two commercial baby foods (ready-to-eat baby soup and milk-based powdered infant formula) were evaluated to check for their suitability as quality control materials for the analysis of moisture, protein, fat, ash and acidity. The suitability of plastic packaging materials to guarantee the reference materials’ characteristics is discussed. Official methods of analysis were used to evaluate the homogeneity and to monitor short-term and long-term stability studies. ANOVA was carried out to confirm homogeneity within and between samples. ISO 34 method was applied to monitor stability at different temperatures. The coefficients of variation obtained between sachets for milk-based powdered infant formula were less than 4.4% for moisture and 0.5% for fat. The stability data over 8.5 months storage period at 20 8C, 5 8C and 20 8C and 70 8C indicate that both materials are stable depending on the parameter studied and temperature. According to results, quality control materials (QCMs) prepared in agreement with ISO 34 requirements are a valuable tool in food composition analysis.