17 resultados para Modèle familial
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[ES]Se analiza el ejercicio de la prostitución y el control de su ejercicio por parte de las autoridades municipales del País Vasco durante el periodo de reglamentación (siglos XIII-XVII). Además se explican las razones del por qué en el País Vasco no se consolidó un modelo de prostitución municipalizada.
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[ES]En estas páginas se analiza el modelo de sexualidad conyugal establecido por la Iglesia medieval para poder responder a la pregunta de qué era lícito y qué no en las relaciones sexuales. Así, entre otras cuestiones, se pasa revista a las posturas, a los momentos, las frecuencias, etc. Igualmente se exponen diversas estrategias arbitradas por la sociedad medieval para vivir en pareja y disfrutar del sexo al margen del matrimonio canónico, como la barraganía,el amancebamiento o el estupro.
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[EN] Progress in methodology in specific fields is usually very closely linked to the technological progress in other areas of knowledge. This justifies the fact that lexicographical techniques have had to wait for the arrival of the IT era of the last decades of the 20th century in order to be able to create specialised electronic dictionaries which can house and systemise enormous amounts of information which can later be dealt with quickly and efficiently. This study proposes a practical-methodological model which aims to solve the grammatical treatment of adverbs in Ancient Latin. We have suggested a list of 5 types, in a decreasing order from a greater to lesser degree of specialisation; technical (T), semi-technical (S-T), instrumental-valued (I-V), instrumental- descriptive (I-D), instrumental-expository (I-E).
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11 p.
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9 p.
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The common 2652 6N del variant in the CASP8 promoter (rs3834129) has been described as a putative low-penetrance risk factor for different cancer types. In particular, some studies suggested that the deleted allele (del) was inversely associated with CRC risk while other analyses failed to confirm this. Hence, to better understand the role of this variant in the risk of developing CRC, we performed a multi-centric case-control study. In the study, the variant 2652 6N del was genotyped in a total of 6,733 CRC cases and 7,576 controls recruited by six different centers located in Spain, Italy, USA, England, Czech Republic and the Netherlands collaborating to the international consortium COGENT (COlorectal cancer GENeTics). Our analysis indicated that rs3834129 was not associated with CRC risk in the full data set. However, the del allele was under-represented in one set of cases with a family history of CRC (per allele model OR = 0.79, 95% CI = 0.69-0.90) suggesting this allele might be a protective factor versus familial CRC. Since this multi-centric case-control study was performed on a very large sample size, it provided robust clarification of the effect of rs3834129 on the risk of developing CRC in Caucasians.
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Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disorder in humans included in the group of Transmissible Spongiform Encephalopathies or prion diseases. The vast majority of sCJD cases are molecularly classified according to the abnormal prion protein (PrPSc) conformations along with polymorphism of codon 129 of the PRNP gene. Recently, a novel human disease, termed "protease-sensitive prionopathy", has been described. This disease shows a distinct clinical and neuropathological phenotype and it is associated to an abnormal prion protein more sensitive to protease digestion. Case presentation: We report the case of a 75-year-old-man who developed a clinical course and presented pathologic lesions compatible with sporadic Creutzfeldt-Jakob disease, and biochemical findings reminiscent of "protease-sensitive prionopathy". Neuropathological examinations revealed spongiform change mainly affecting the cerebral cortex, putamen/globus pallidus and thalamus, accompanied by mild astrocytosis and microgliosis, with slight involvement of the cerebellum. Confluent vacuoles were absent. Diffuse synaptic PrP deposits in these regions were largely removed following proteinase treatment. PrP deposition, as revealed with 3F4 and 1E4 antibodies, was markedly sensitive to pre-treatment with proteinase K. Molecular analysis of PrPSc showed an abnormal prion protein more sensitive to proteinase K digestion, with a five-band pattern of 28, 24, 21, 19, and 16 kDa, and three aglycosylated isoforms of 19, 16 and 6 kDa. This PrPSc was estimated to be 80% susceptible to digestion while the pathogenic prion protein associated with classical forms of sporadic Creutzfeldt-Jakob disease were only 2% (type VV2) and 23% (type MM1) susceptible. No mutations in the PRNP gene were found and genotype for codon 129 was heterozygous methionine/valine. Conclusions: A novel form of human disease with abnormal prion protein sensitive to protease and MV at codon 129 was described. Although clinical signs were compatible with sporadic Creutzfeldt-Jakob disease, the molecular subtype with the abnormal prion protein isoforms showing enhanced protease sensitivity was reminiscent of the "protease-sensitive prionopathy". It remains to be established whether the differences found between the latter and this case are due to the polymorphism at codon 129. Different degrees of proteinase K susceptibility were easily determined with the chemical polymer detection system which could help to detect proteinase-susceptible pathologic prion protein in diseases other than the classical ones.
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[ES] En el año 1998 el País Vasco pone en marcha un modelo de desarrollo rural fundamentado en la colaboración entre administraciones locales y regionales frente a la dependencia de las subvenciones comunitarias. Con objeto de la necesaria renovación de los Planes Comarcales se produce una reflexión sobre los errores cometidos y se plantean diferentes alternativas que quedan recogidas en unas propuestas metodológicas que van a primar planteamientos inductivos, prácticos y ejecutables y un modo de funcionar que permite llegar con facilidad de la propuesta local a la puesta en común regional. Como resultado obtenemos una interesante propuesta de desarrollo, a tener en cuenta, en un momento en el que muchas Comunidades Autónomas han de reorganizar sus redes de desarrollo rural ante la anunciada reducción de aportaciones comunitarias.
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1000 p. (Anexos: 929-965 p.; bibliografía 965-1000 p.). Capítulos de discusión y conclusiones en castellano y francés.
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[FR] Depuis plusieurs décennies, il existe une offre de scolarisation en langue basque dans les établissements scolaires du Pays basque nord (Pyrénées Atlantiques). Les élèves qui suivent une scolarité bilingue sont inscrits soit dans un établissement qui pratique la méthode dite immersive (Ikastolak de Seaska) soit dans un modèle à parité horaire dans un établissement public ou privé1. Ainsi, il est possible pour un élève de mener l’apprentissage de la langue basque en parallèle avec celui du français depuis l’école primaire jusqu’au lycée. Cette offre de scolarisation est en développement constant (38 ouvertures sur les 6 dernières années scolaires) et elle concerne aujourd’hui plus d’une école sur deux (58 %), 34 % des élèves du primaire et 43 % des enfants en maternelle.
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[ES] El objetivo de este trabajo es la descripción de los hábitos de ingesta de alcohol de una muestra de población universitaria de ambos sexos y su relación con el IMC. Aunque el elevado porcentaje de personas consumidoras de alcohol no presenta un IMC actual diferente al de los no consumidores, este patrón de comportamiento puede tener repercusiones en estadios vitales posteriores en el caso de que no haya un cambio de hábitos.
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Familial hypercholesterolemia (FH) is a common autosomal codominant disease with a frequency of 1:500 individuals in its heterozygous form. The genetic basis of FH is most commonly mutations within the LDLR gene. Assessing the pathogenicity of LDLR variants is particularly important to give a patient a definitive diagnosis of FH. Current studies of LDLR activity ex vivo are based on the analysis of I-125-labeled lipoproteins (reference method) or fluorescent-labelled LDL. The main purpose of this study was to compare the effectiveness of these two methods to assess LDLR functionality in order to validate a functional assay to analyse LDLR mutations. LDLR activity of different variants has been studied by flow cytometry using FITC-labelled LDL and compared with studies performed previously with I-125-labeled lipoproteins. Flow cytometry results are in full agreement with the data obtained by the I-125 methodology. Additionally confocal microscopy allowed the assignment of different class mutation to the variants assayed. Use of fluorescence yielded similar results than I-125-labeled lipoproteins concerning LDLR activity determination, and also allows class mutation classification. The use of FITC-labelled LDL is easier in handling and disposal, cheaper than radioactivity and can be routinely performed by any group doing LDLR functional validations.
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Neurodevelopmental disruptions caused by obstetric complications play a role in the etiology of several phenotypes associated with neuropsychiatric diseases and cognitive dysfunctions. Importantly, it has been noticed that epigenetic processes occurring early in life may mediate these associations. Here, DNA methylation signatures at IGF2 (insulin-like growth factor 2) and IGF2BP1-3 (IGF2-binding proteins 1-3) were examined in a sample consisting of 34 adult monozygotic (MZ) twins informative for obstetric complications and cognitive performance. Multivariate linear regression analysis of twin data was implemented to test for associations between methylation levels and both birth weight (BW) and adult working memory (WM) performance. Familial and unique environmental factors underlying these potential relationships were evaluated. A link was detected between DNA methylation levels of two CpG sites in the IGF2BP1 gene and both BW and adult WM performance. The BW-IGF2BP1 methylation association seemed due to non-shared environmental factors influencing BW, whereas the WM-IGF2BP1 methylation relationship seemed mediated by both genes and environment. Our data is in agreement with previous evidence indicating that DNA methylation status may be related to prenatal stress and later neurocognitive phenotypes. While former reports independently detected associations between DNA methylation and either BW or WM, current results suggest that these relationships are not confounded by each other.
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Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most common forms. Lynch syndrome tumors develop mainly as a consequence of defective DNA mismatch repair associated with germline mutations in MLH1, MSH2, MSH6 and PMS2. A significant proportion of variants identified by screening these genes correspond to missense or noncoding changes without a clear pathogenic consequence, and they are designated as "variants of uncertain significance'', being the c.1852_1853delinsGC (p.K618A) variant in the MLH1 gene a clear example. The implication of this variant as a low-penetrance risk variant for CRC was assessed in the present study by performing a case-control study within a large cohort from the COGENT consortium-COST Action BM1206 including 18,723 individuals (8,055 colorectal cancer cases and 10,668 controls) and a case-only genotype-phenotype correlation with several clinical and pathological characteristics restricted to the Epicolon cohort. Our results showed no involvement of this variant as a low-penetrance variant for colorectal cancer genetic susceptibility and no association with any clinical and pathological characteristics including family history for this neoplasm or Lynch syndrome.
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The common 2652 6N del variant in the CASP8 promoter (rs3834129) has been described as a putative low-penetrance risk factor for different cancer types. In particular, some studies suggested that the deleted allele (del) was inversely associated with CRC risk while other analyses failed to confirm this. Hence, to better understand the role of this variant in the risk of developing CRC, we performed a multi-centric case-control study. In the study, the variant 2652 6N del was genotyped in a total of 6,733 CRC cases and 7,576 controls recruited by six different centers located in Spain, Italy, USA, England, Czech Republic and the Netherlands collaborating to the international consortium COGENT (COlorectal cancer GENeTics). Our analysis indicated that rs3834129 was not associated with CRC risk in the full data set. However, the del allele was under-represented in one set of cases with a family history of CRC (per allele model OR = 0.79, 95% CI = 0.69-0.90) suggesting this allele might be a protective factor versus familial CRC. Since this multi-centric case-control study was performed on a very large sample size, it provided robust clarification of the effect of rs3834129 on the risk of developing CRC in Caucasians.