The Phenolic Composition, Antioxidant Activity and Microflora of Wild Elderberry in Asturias (Northern Spain): An Untapped Resource of Great Interest
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PROVIDER: S-EPMC10669248 | biostudies-literature | 2023 Nov
REPOSITORIES: biostudies-literature
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Project description:BackgroundThe prevalence of BRCA1 and BRCA2 mutations in Spain is heterogeneous and varies according to geographical origin of studied families. The contribution of these mutations to hereditary breast and ovarian cancer has not been previously investigated in Asturian populations (Northern Spain).MethodsIn the present work, 256 unrelated high-risk probands with breast and/or ovarian cancer from families living in Asturias were analyzed for the presence of a BRCA1 or BRCA2 gene mutation from October 2007 to May 2012. The entire coding sequences and each intron/exon boundaries of BRCA1/2 genes were screened both by direct sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA).ResultsA total of 59 families (23%) were found to carry a pathogenic germ line mutation, 39 in BRCA1 and 20 in BRCA2. Twenty nine additional families (12%) carried an unknown significance variant. We detected 28 distinct pathogenic mutations (16 in BRCA1 and 12 in BRCA2), of which 3 mutations in BRCA1 (c.1674delA, c.1965C>A and c.2900_2901dupCT) and 5 in BRCA2 (c.262_263delCT, c.2095C>T, c.3263dupC, c.4030_4035delinsC, c.8042_8043delCA) had not been previously described.The novel mutations c.2900_2901dupCT in BRCA1 and c.4030_4035delinsC in BRCA2 occurred in 8 and 6 families respectively and clustered in two separated small geographically isolated areas suggesting a founder effect. These 2 mutations, together with the Galician BRCA1 mutation c.211A>G (9 families), and the common BRCA1 mutation c.3331_3334delCAAG (6 families), account for approximately 50% of all affected families. By contrast, very frequent mutations in other Spanish series such as the BRCA1 Ashkenazi founder mutation c.68_69delAG, was found in only one family.ConclusionsIn this study we report the BRCA1 and BRCA2 spectrum of mutations and their geographical distribution in Asturias, which largely differ from other areas of Spain. Our findings may help design a first step recurrent mutation panel for screening high-risk breast and/or ovarian cancer families from this specific area.
| S-EPMC3662577 | biostudies-literature
Project description:The human populations of the Iberian Peninsula are the varied result of a complex mixture of cultures throughout history, and are separated by clear social, cultural, linguistic or geographic barriers. The stronger genetic differences between closely related populations occur in the northern third of Spain, a phenomenon commonly known as "micro-differentiation". It has been argued and discussed how this form of genetic structuring can be related to both the rugged landscape and the ancient societies of Northern Iberia, but this is difficult to test in most regions due to the intense human mobility of previous centuries. Nevertheless, the Spanish autonomous community of Asturias shows a complex history which hints of a certain isolation of its population. This, joined together with a difficult terrain full of deep valleys and steep mountains, makes it suitable for performing a study of genetic structure, based on mitochondrial DNA and Y-Chromosome markers. Our analyses do not only show that there are micro-differentiation patterns inside the Asturian territory, but that these patterns are strikingly similar between both uniparental markers. The inference of barriers to gene flow also indicates that Asturian populations from the coastal north and the mountainous south seem to be relatively isolated from the rest of the territory. These findings are discussed in light of historic and geographic data and, coupled with previous evidence, show that the origin of the current genetic patterning might indeed lie in Roman and Pre-Roman sociopolitical divisions.
| S-EPMC3507697 | biostudies-literature
Project description: Not available
| S-EPMC3795150 | biostudies-literature
Project description: Not available
| S-EPMC9976732 | biostudies-literature
Project description:BackgroundThe aim is to investigate the factors that might be associated with the presence of induced abortion (IA) in women prostitutes in Asturias (Spain).Methodology/principal findingsCross-sectional descriptive study by self-completion questionnaire of 212 women prostitutes who attended the three Sexually Transmitted Disease Clinics in Asturias, between January-December 2003. The questionnaire was designed to investigate the women's perceived knowledge (what they claimed to know), their real knowledge (what they really knew), the use of contraceptive methods and socio-demographic variables. Multivariate analysis was carried out. 92% of the participants were immigrants. 76% were practising at brothel. 37.6% (95%CI:30.7-44.4%) reported to have undergone at least one IA during their life. According to the logistic regression the "presence of IA" was directly associated with the variables "number of pregnancies" (OR:65.82;95%IC:7.73-560.14) and "years of practising prostitution" (OR:1.13;95%CI:0.99-1.29); and inversely associated with "children" (0 = no children;1 = one or more children; OR:0.005;95%CI:0.000-0.057), "women's age" (OR:0.89;95%CI:0.82-0.97) and "real contraceptive knowledge" (OR:0.50; 95%CI:0.34-0.75). Married women were more likely to have undergone an IA (OR:2.74;95%IC:1.05-7.13). No association with "perceived contraceptive knowledge" was found.Conclusions/significanceThe characteristics more closely linked to the reproductive history of the women (such as "pregnancies", "children"), together with the "real contraceptive knowledge" and the "time practising prostitution" explain the presence of IA better than factors more closely linked to the conditions in which the women practise prostitution ("place of activity", "other activities compatible with prostitution", "use of safe method in commercial relation"). It is possible that IA is being used as a birth control method, hypothesis suggested by the inverse association observed between the variable "children" and the "presence of IA". Therefore, the promotion of the use of safe contraceptive methods should be a high-priority. If the real contraceptive knowledge was measured correctly, all strategies to increase it would be justified because it was inversely associated with the presence of IA.
| S-EPMC2396519 | biostudies-literature
Project description:Mutational analysis of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can quantify the relative importance of variants over time, enable dominant mutations to be identified, and facilitate near real-time detection, comparison and tracking of evolving variants. SARS-CoV-2 in Asturias, an autonomous community of Spain with a large ageing population, and high levels of migration and tourism, was monitored and tracked from the beginning of the pandemic in February 2020 until its decline and stabilization in August 2021, and samples were characterized using whole genomic sequencing and single nucleotide polymorphisms. Data held in the GISAID database were analysed to establish patterns in the appearance and persistence of SARS-CoV-2 strains. Only 138 non-synonymous mutations occurring in more than 1 % of the population with SARS-CoV-2 were found, identifying ten major variants worldwide (seven arose before January 2021), 19 regional and one local. In Asturias only 17 different variants were found. After vaccination, no further regional major variants were found. Only half of the defined variants circulated and no new variants were generated, indicating that infection control measures such as rapid diagnosis, isolation and vaccination were efficient.
| S-EPMC10569657 | biostudies-literature
Project description:BackgroundMultiple sclerosis is an inflammatory demyelinating autoimmune disease of the central nervous system. Studies conducted in recent years point to an increase in its prevalence and a change in the age profile of patients. This study aims to analyse the prevalence and incidence of multiple sclerosis in healthcare district IV of the region of Asturias, in north-western Spain.MethodsWe conducted a retrospective epidemiological study of the population of said healthcare district with a diagnosis of multiple sclerosis according to the 2017 McDonald criteria. The prevalence of the disease was calculated cross-sectionally (prevalence date: December 31, 2022), while the incidence was determined retrospectively over a six-year period, from 2017 to 2022. We gathered data from the registries and databases of the tertiary hospital in healthcare district IV, and from one private hospital. Relevant demographic and clinical data were gathered from electronic records.ResultsThe prevalence of multiple sclerosis in the population studied was 198 cases per 100 000 population. The incidence of multiple sclerosis during the study period (2017-2022) was 6.6 cases per 100 000 person-years. On the prevalence date, 66.5% of patients were women and 82.4% presented relapsing-remitting multiple sclerosis. Mean age was 33.98 years at symptom onset and 50.84 years on the prevalence date.ConclusionsAsturias currently presents the highest multiple sclerosis prevalence rate in Spain; the estimated rate represents an increase with respect to those reported in studies conducted in the same region in the 1990s.
| S-EPMC11881357 | biostudies-literature
Project description:Deep-sea hypersaline anoxic basins (DHABs) are considered to be among the most extreme ecosystems on our planet, allowing only the life of polyextremophilic organisms. DHABs' prokaryotes exhibit extraordinary metabolic capabilities, representing a hot topic for microbiologists and biotechnologists. These are a source of enzymes and new secondary metabolites with valuable applications in different biotechnological fields. Here, we review the current knowledge on prokaryotic diversity in DHABs, highlighting the biotechnological applications of identified taxa and isolated species. The discovery of new species and molecules from these ecosystems is expanding our understanding of life limits and is expected to have a strong impact on biotechnological applications.
| S-EPMC7074082 | biostudies-literature
Project description:Hospitalizations for ischemic heart disease have an uneven distribution throughout Spain, in which Asturias is the community with the highest rates of acute myocardial infarction (AMI) and angina pectoris (AP). Cardiovascular diseases are related to environmental, socioeconomic and previous medical conditions, which result in geographical differences in the incidence of hospital admissions and mortality. The goal of this study was to describe the spatial distribution of hospital admissions in the central area of Asturias and explore the existence of spatial patterns or clusters. Urgent hospital admissions for AMI and angina AP in the hospitals of the central area of Asturias were registered, geocoded and grouped by census tracts. Standardized admission ratio, smoothed relative risk, posterior risk probability and analysis of spatial clusters between relative risks throughout the study area were calculated and mapped. Geographical differences were found in the distribution of hospital admissions for AMI and AP across the area and between men and women. The cluster analysis indicated contiguous census tracts with high relative risk values in the northwest region of the study area and low relative risk in the east, particularly for men. The geographical analysis shows the existence of patterns and spatial clusters in the incidence of AMI and AP, for both men and women, in the central area of Asturias.
| S-EPMC8656975 | biostudies-literature
Project description:The developed cognitive capabilities for Homo sapiens seems to be the result of a specialized and lateralized brain, and as a result of this, humans display the highest degree of manual specialization or handedness among the primates. Studies regarding its emergence and distribution within the genus Homo show that handedness is present very early. The mode in which it was articulated and spread across the different species during the course of human evolution could provide information about our own cognitive capacities. Here we report the manual laterality attributed to eleven 49,000 old Neandertal individuals from El Sidrón cave (Spain), through the study of instrumental or cultural striations on the anterior dentition. Our results show a predominant pattern addressed to right-handers. These results fit within the modern human handedness distribution pattern and provide indirect evidence for behavior and brain lateralization on Neandertals. They support the early establishment of handedness in our genus. Moreover, the individual identified as Juvenile 1 (6-8 years old at death), displays the same striation pattern as the adult Neandertals from the sample, and thereby the ontogenic development of manual laterality in that Neandertal population seems to be similar to that of living modern humans.
| S-EPMC3646041 | biostudies-literature