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Autosomal dominant familial hypercholesterolemia (FH) is caused by mutations in LDLR , APOB and PCSK9. Two new putative loci causing FH have been identified recently, the p.(Leu167del) mutation in APOE and new mutations in the signal transducing adaptor family member STAP1. We aimed at investigating the role of STAP1 mutations in the etiology of FH. We sequenced LDLR , APOB , PCSK9 , LDLRAP1 , APOE , LIPA and STAP1 with the LipidInCode platform in 400 unrelated subjects from Spain with a clinical diagnosis of FH. All subjects carrying rare predicted pathogenic variants in STAP1 gene, described as pathogenic by at least three bioinformatic analysis and having an allelic frequency lower than 1% in general population, were selected for family study. Available relatives were recruited, including both hypercholesterolemic and non-hypercholesterolemic family members. Sequencing analysis of STAP1 gene revealed seventeen rare variants, four of them being described as pathogenic by bioinformatic analysis. We studied the cosegregation with hypercholesterolemia of four rare predicted pathogenic variants, c.-60A > G, p.(Arg12His), p.(Glu97Asp), p.(Pro176Ser) in seven families. We did not observe any cosegregation between genotype and phenotype, even carriers of rare variants in STAP1 had lower LDL cholesterol levels than non-carriers. This study analyzes the family cosegregation of four rare predicted pathogenic variants of STAP1, p.(Arg12His), p.(Glu97Asp), p.(Pro176Ser) and c.-60A > G, in seven families, showing absence of cosegregation in all of them. These results would suggest that STAP1 gene is not involved in hypercholesterolemia of these families. Image 1 • STAP1 has been proposed as a candidate gene for FH with controversial results. • Predicted pathogenic mutations in STAP1 in genetic negative FH were studied. • These mutations in STAP1 did not cosegregate with hypercholesterolemia in families. • STAP1 does not seem to play a major role in the etiology of FH. [ABSTRACT FROM AUTHOR]

Simple Summary: In Spain, goat farms are mainly oriented to milk production, although kid meat contributes to their sustainability, particularly in autochthonous breeds such as Payoya. Usually, kids are fed artificial milk until slaughter, allowing the use of goat milk for the commercialization of cheese, but several studies indicate that feeding kids natural milk improve the quality of their meat. The aim of the present study was to find traceability markers to discriminate between kids that are fed natural milk (with different goat management systems) and those fed a milk replacer. For this purpose, we proposed the quantification of retinol and α-tocopherol contents in plasma and fat, the amount of kidney fat, lipid oxidation, and some fat color parameters as potential markers. The results showed that plasma retinol concentrations were higher in kids fed feeding systems with synthetic vitamins. The plasma α-tocopherol concentrations were higher in kids fed grass-based feeding systems (which contain the natural forms of these vitamins). A dilution effect was shown for the retinol concentration in fat. Collectively, the analyzed variables allowed a discriminant analysis to correctly classify kids according to their feeding system and could ensure traceability to consumers. The effects of Payoya kid feeding systems on the fat-soluble vitamin (retinol/α-tocopherol) contents, fat content, fat color, and the oxidation index were evaluated to determine their potential for use as feeding system traceability tools. Four groups of Payoya kids (55 animals in total) fed milk exclusively were studied: a group fed a milk replacer (MR) and three groups fed natural milk from dams reared with different management systems (mountain grazing (MG), cultivated meadow (CM) and total mixed ration (TMR)). Kids were slaughtered around one month of age and 8 kg of live weight. Kids from the MG and CM groups presented lower retinol (5.56 and 3.72 µg/mL) and higher α-tocopherol plasma (11.43 and 8.85 µg/mL) concentrations than those from the TMR and MR groups (14.98 and 22.47 µg/mL of retinol; 2.49 and 0.52 µg/mL of α-tocopherol, respectively) (p < 0.001). With respect to fat, kids with a higher intramuscular fat percentage (CM and TMR groups) had lower retinol contents (16.52 and 15.99 µg/mL, respectively) than kids from the MG and MR groups (26.81 and 22.63 µg/mL, respectively) (p < 0.001). A dilution effect of vitamins on fat was shown: the higher the amount of fat, the lower the vitamin concentrations, the higher the lipid oxidation index (MDA), and the lower the SUM (absolute value of the integral of the translated spectra between 450 and 510 nm). A discriminant analysis that included all studied variables showed that 94.4% of the kids were classified correctly according to their feeding system and could allow traceability to the consumer. [ABSTRACT FROM AUTHOR]

A survey was conducted to investigate the relationship between knowledge about food safety and actual food handling practices among Spanish university students (mainly from the health sciences disciplines) who usually prepare meals at home. Based on level of education in food safety topics, students were divided in three groups: high, which included students from Food Science and Nutrition; medium, which included students from other health sciences; and low, which included students from non-health-related studies. More than two thirds of the 562 people selected had an accurate knowledge of the eight foodborne pathogens included in the survey, but only 5.2% were able to identify Staphylococcus aureus as a foodborne pathogen. Significant differences in responses were found depending on educational level concerning the food safety topic. For food handling, up to 60% of the responses reflected accurate knowledge of proper storage of prepared meals and washing of hands and materials to avoid cross-contamination. However, with the exception of questions related to storage temperature, there was considerable difference between knowledge and reported behavior. Although 98.6% of the participants recognized the importance of hand washing before and during food preparation, only one quarter (24.4%) affirmed that they washed their hands with soap and water. On questions concerning food practices, more accurate answers were given by the older students. Women answered questions regarding cross-contamination more accurately, whereas men were more accurate in response to questions concerning temperature and food preservation. In general, students with more knowledge of food hygiene had better reported practices, but even these students reported some high-risk behaviors. These results confirm the need to improve educational programs, ensuring that the acquired knowledge actually modifies consumer behavior. [ABSTRACT FROM AUTHOR]

Simple Summary: Goats are important species due to their contributions to the development of rural areas. Spain has one of the largest goat populations in Europe; however, literature on goat carcasses is very scarce and, therefore, it is crucial to study the specific productive potential of each breed. Previous studies by our team on other Spanish goat breeds have shown some interactions between breed and rearing systems and, consequently, further analysis is necessary. This paper aims to contribute to the general knowledge on the subject. Since goat milk has a higher value than kid meat in Europe, some farmers rear kids with milk replacers, although some studies have stated that kids raised on natural milk yield higher-quality carcasses. Our previous studies showed some interactions between breed and rearing system on carcass and meat quality. This study evaluated the influence of the use of milk replacers on several carcass characteristics of suckling kids from eight Spanish goat breeds (Florida, Cabra del Guadarrama, Majorera, Palmera, Payoya, Retinta, Tinerfeña, and Verata). A total of 246 kids fed milk replacer (MR) or natural milk (NM) were evaluated. Carcass, head, viscera, and kidney fat weights, as well as several carcass measurements (round perimeter, forelimb width, carcass length, forelimb length, and carcass compactness index), were registered. Forelimbs were dissected to study tissue composition. For all studied variables, interactions were found between rearing system and breed. In general, the MR rearing system increased the head and visceral weights, as well as the length measurements and muscle percentages. Conversely, the NM rearing system increased carcass compactness and resulted in higher fat contents, independent of the deposit. The choice of one or another rearing system should be made according to the needs of the target market. [ABSTRACT FROM AUTHOR]

In this paper we study a cost allocation problem that is inherent to most energy networks: the allocation of losses. In particular, we study how to allocate gas losses between haulers in gas transmission networks. We discuss four allocation rules, two of them have already been in place in real networks and two others that are defined for the first time in this paper. We then present a comparative analysis of the different rules by studying their behavior with respect to a set of principles set forth by the European Union. This analysis also includes axiomatic characterizations of two of the rules. Finally, as an illustration, we apply them to the Spanish gas transmission network. [ABSTRACT FROM AUTHOR]

Abstract: In this work, the physicochemical and sensorial properties of three “Picota” type sweet cherry cultivars and the ‘Sweetheart’ cultivar were evaluated, taking into account the effect of ripening stage. Total soluble solids (TSS), titratable acidity (TA), pH, maturation index (MI), and total phenolic content (TPC) were studied, together with volatile compounds. The sensorial quality was evaluated by descriptive and hedonic tests. Although the most relevant sensorial attributes were linked to the ripening stage, parameters associated with organic acid accumulation and some volatile acids and aromatic alcohols were characteristic of the ‘Sweetheart’ cv. High values of pH, MI, and some aldehydes were related to the “Picota” type cultivars. Among the “Picota” type cultivars, ‘Ambrunés’ cv was mainly distinguished by its greater sweetness and by some aliphatic alcohols, whereas ‘Pico Colorado’ cv was characterised by its greater firmness and hexanal concentration. The ‘Pico Negro’ cultivar was associated with higher TPC concentrations. [Copyright &y& Elsevier]

Abstract: The populations of Micrococcaceae in different types of Iberian dry-cured sausages from central-west Spain were characterized and their technological and antimicrobial properties determined in order to evaluate their suitability as starter cultures in dry-cured sausage manufacture. Of a total of four hundred strains isolated from two manufacturers, one hundred and sixty-six were selected to evaluate nitrate reductase, proteolytic, lipolytic, and antimicrobial activities, and growth at different values of pH and water activity (a w). Most of the strains were identified as Staphylococcus except for eight isolates assigned to Kocuria spp. The species most often isolated was Staphylococccus xylosus. Others were, in descending order of abundance, S. aureus, S. lugdunensis, S. saprophyticus, S. sciuri, S. chromogenes, and S. capitis. The distributions of the minority Staphylococcus species were different for the two manufacturers. All the investigated strains were able to grow at pH and a w greater than 5.0 and 0.85, respectively, the values usually found in Iberian dry-cured sausages. Five S. xylosus strains showed antimicrobial activity against some indicator strains which were investigated. Seven strains with the best properties were pre-selected and tested for their lipolytic and proteolytic activities against pork fat and myofibrillar and sarcoplasmic pork proteins, respectively, and for their low biogenic amines production. Most of the strains showed proteolytic and lipolytic activities, but none produced histamine, tyramine, phenylethylamine, or spermine. Three strains, identified as Staphylococcus xylosus, possess useful properties which make them candidates for testing as starter cultures in pilot processing of Iberian sausages. [Copyright &y& Elsevier]

Introduction and Objectives: TPM1 is one of the main hypertrophic cardiomyopathy (HCM) genes. Clinical information on carriers is relatively scarce, limiting the interpretation of genetic findings in individual patients. Our aim was to establish genotype-phenotype correlations of the TPM1 p.Arg21Leu variant in a serie of pedigrees., Methods: TPM1 was evaluated by next-generation sequencing in 10 561 unrelated probands with inherited heart diseases. Familial genetic screening was performed by the Sanger method. We analyzed TPM1 p.Arg21Leu pedigrees for cosegregation, clinical characteristics, and outcomes. We also estimated the geographical distribution of the carrier families in Portugal and Spain., Results: The TPM1 p.Arg21Leu variant was identified in 25/4099 (0.61%) HCM-cases, and was absent in 6462 control individuals with other inherited cardiac phenotypes (P<.0001). In total, 83 carriers (31 probands) were identified. The combined LOD score for familial cosegregation was 3.95. The cumulative probability of diagnosis in carriers was 50% at the age of 50 years for males, and was 25% in female carriers. At the age of 70 years, 17% of males and 46% of female carriers were unaffected. Mean maximal left ventricular wall thickness was 21.4 ±7.65mm. Calculated HCM sudden death risk was low in 34 carriers (77.5%), intermediated in 8 (18%), and high in only 2 (4.5%). Survival free of cardiovascular death or heart transplant was 87.5% at 50 years. Six percent of carriers were homozygous and 18% had an additional variant. Family origin was concentrated in Galicia, Extremadura, and northern Portugal, suggesting a founder effect., Conclusions: TPM1 p.Arg21Leu is a pathogenic HCM variant associated with late-onset/incomplete penetrance and a generally favorable prognosis., (Copyright © 2021 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.)

The effect of the addition of an autochthonous starter culture and the protease EPg222 on the physico-chemical and sensory characteristics of dry-fermented sausage ''salchichon" was investigated. Sausages were prepared with purified EPg222 and Pediococcus acidilactici MS200 and Staphylococcus vitulus RS34 as starter culture (P200S34), separately and together, ripened for 90 days, and compared with a control batch. Dry-fermented sausages ripened with EPg222 and starter culture showed higher amounts of AN and volatile compounds derived from amino acid catabolism than the control, especially in samples in which was added the association of enzyme and starter culture (P200S34+EPg222). There were clear differences shown by the texture analysis, with the P200S34+EPg222 batch being less hard. Especially important was the result found in biogenic amines, since the association P200S34+EPg222 reduced their accumulation compared to the EPg222 batch. The use of EPg222 may be of great interest to improve the sensory characteristics of dry-fermented sausages, but its association with the selected starter culture with low decarboxylase activity is necessary to guarantee healthiness and homogeneity., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

The purpose of this work was to develop a procedure based on protein analysis by free zone capillary electrophoresis (FZCE) that can be used in the determination of smoked paprika "Pimentón de La Vera" adulteration with paprika elaborated from varieties of pepper foreign to the "La Vera" region, in central western Spain. Two autochthonous varieties of pepper, Jaranda and Bola, and the variety Papri Queen, foreign to the "La Vera" region, were used in the study. Several aqueous solutions for solubilization of the methanol-soluble proteins were tested, and the FZCE conditions of capillary dimensions, FZCE buffer concentrations, and detection wavelengths were optimized. On the basis of the results, 30% (v/v) acetonitrile was adopted as the suspending solution for routine analysis, and the optimal FZCE parameters were 75 microm inner diameter and 57 cm total length capillaries, 8.75 mM phosphate/20.6 mM tetraborate as run buffer, and 256 nm as detection wavelength. This method was found to give excellent repeatability of the corrected migration time (CMT) with coefficients of variation (RSD %; n = 5) of <1% for most of the proteinaceous compounds analyzed and showed greater effectiveness in discriminating paprika varieties than the SDS-PAGE technique. Four peaks found in the FZCE electropherograms were investigated as a basis for detecting and estimating the adulteration of smoked paprika with paprika elaborated from the Papri Queen variety. The adulteration detection limits varied from 5 to 40% of the Papri Queen variety within a satisfactory working range of mixture (5-80%) sufficiently large to cover the adulteration levels of interest. The use of peak 6 as a marker for determining adulteration gave the best results, with an adulteration detection limit of 5-10% (w/w).