48 research outputs found

    Nefropatia brucel·lar

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    L'afectació renal en el curs de la Brucel·losi ha estat citada de fa anys per alguns autors. Però entre els parènquimes que es poden veure envoltats en el curs d'aquesta malaltia, la localització renal no era, sovint, descoberta. Fins fa pocs anys els informes sobre aquest aspecte procedien bé de peces de nefrectomia, bé de necròpsies. ..

    The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease

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    Background\ud In order to identify novel loci associated with Alzheimer's disease (AD), we conducted a genome-wide association study (GWAS) in the Spanish population.\ud \ud Methods\ud We genotyped 1,128 individuals using the Affymetrix Nsp I 250K chip. A sample of 327 sporadic AD patients and 801 controls with unknown cognitive status from the Spanish general population were included in our initial study. To increase the power of the study, we combined our results with those of four other public GWAS datasets by applying identical quality control filters and the same imputation methods, which were then analyzed with a global meta-GWAS. A replication sample with 2,200 sporadic AD patients and 2,301 controls was genotyped to confirm our GWAS findings.\ud \ud Results\ud Meta-analysis of our data and independent replication datasets allowed us to confirm a novel genome-wide significant association of AD with the membrane-spanning 4-domains subfamily A (MS4A) gene cluster (rs1562990, P = 4.40E-11, odds ratio = 0.88, 95% confidence interval 0.85 to 0.91, n = 10,181 cases and 14,341 controls).\ud \ud Conclusions\ud Our results underscore the importance of international efforts combining GWAS datasets to isolate genetic loci for complex diseases

    ATP5H/KCTD2 locus is associated with Alzheimer's disease risk

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    To identify loci associated with Alzheimer disease, we conducted a three-stage analysis using existing genome-wide association studies (GWAS) and genotyping in a new sample. In Stage I, all suggestive single-nucleotide polymorphisms (at P<0.001) in a previously reported GWAS of seven independent studies (8082 Alzheimer's disease (AD) cases; 12 040 controls) were selected, and in Stage II these were examined in an in silico analysis within the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium GWAS (1367 cases and 12904 controls). Six novel signals reaching P<5 × 10-6 were genotyped in an independent Stage III sample (the Fundació ACE data set) of 2200 sporadic AD patients and 2301 controls. We identified a novel association with AD in the adenosine triphosphate (ATP) synthase, H+ transporting, mitochondrial F0 (ATP5H)/Potassium channel tetramerization domain-containing protein 2 (KCTD2) locus, which reached genome-wide significance in the combined discovery and genotyping sample (rs11870474, odds ratio (OR)=1.58, P=2.6 × 10 -7 in discovery and OR=1.43, P=0.004 in Fundació ACE data set; combined OR=1.53, P=4.7 × 10 -9). This ATP5H/KCTD2 locus has an important function in mitochondrial energy production and neuronal hyperpolarization during cellular stress conditions, such as hypoxia or glucose deprivation

    ATP5H/KCTD2 locus is associated with Alzheimer's disease risk

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    To identify loci associated with Alzheimer disease, we conducted a three-stage analysis using existing genome-wide association studies (GWAS) and genotyping in a new sample. In Stage I, all suggestive single-nucleotide polymorphisms (at P <0.001) in a previously reported GWAS of seven independent studies (8082 Alzheimer's disease (AD) cases; 12 040 controls) were selected, and in Stage II these were examined in an in silico analysis within the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium GWAS (1367 cases and 12904 controls). Six novel signals reaching P <5 × 10 −6 were genotyped in an independent Stage III sample (the Fundació ACE data set) of 2200 sporadic AD patients and 2301 controls. We identified a novel association with AD in the adenosine triphosphate (ATP) synthase, H+ transporting, mitochondrial F0 (ATP5H)/Potassium channel tetramerization domain-containing protein 2 (KCTD2) locus, which reached genome-wide significance in the combined discovery and genotyping sample (rs11870474, odds ratio (OR)=1.58, P =2.6 × 10 −7 in discovery and OR=1.43, P =0.004 in Fundació ACE data set; combined OR=1.53, P =4.7 × 10 −9). This ATP5H / KCT D2 locus has an important function in mitochondrial energy production and neuronal hyperpolarization during cellular stress conditions, such as hypoxia or glucose deprivation

    Nefropatia brucel·lar

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    L'afectació renal en el curs de la Brucel·losi ha estat citada de fa anys per alguns autors. Però entre els parènquimes que es poden veure envoltats en el curs d'aquesta malaltia, la localització renal no era, sovint, descoberta. Fins fa pocs anys els informes sobre aquest aspecte procedien bé de peces de nefrectomia, bé de necròpsies. ..

    Official, artificial or (arte)factual? The Museu d'Història de Catalunya

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    The Museum of the History of Catalonia (MHC), opened in 1996, houses a permanent exhibition that takes the visitor through the story of Catalonia from pre-history to 1980, as well as temporary exhibitions. It was conceived as a political project with a clear nation-building function, devised by the ruling centre-right Catalanist coalition Convergència i Unió as a way of teaching Catalans a different version of their history from the one that had come to them from the Spanish state, especially under the Franco regime. The article analyses the structure and content of the Museum's permanent exhibition, as well as some of the debates that have surrounded it, in the light of work by Tony Bennett and others on the evolution of the role of museums in state- and nation-building since the nineteenth century. The analysis shows how the nationalist ideology of CiU shaped the design and functions of the MHC in the period up to 2003

    Repertorio Americano. Edición del 21-ABRIL-1924

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    Gabriel Alomar, Wilson, 65* A. Masferrer, El sermón de Juan, 65* Ramón Vinyes, Dietario en Zig-Zag, 67* Rafael Estrada, Noticia de libros, 68* Sin autor, El corazón de Voltaire, 69* Juana de Ibarbourou, Página lírica, 70* Sin autor, Leyendo a Wilson, 72* Sin autor, El demonio harto de carne... de cañones, se mete a fraile pacifista, 72* Arturo Torres Rioseco, Voltaire y la religión, 73* Hubbert, Voltaire, 73* Luis de Zulueta, Otra lección de Wilson, 74* Flor de Luna, La oración en el huerto, 75* Sin autor, Si usted desea un libro instructivo, al alcance de los niños busque De la vida de las plantas, 76* Eduardo Barrios, ¿Juana de Ibarbourou se entristece?, 76* Sin autor, De la vida de las plantas, 76* Sin autor, La justicia de los tiranos, 78* Sin autor, La nota de Washington al gobierno de Honduras, 78* Efrain Sáenz C., La parábola de Jesús en el templo, 79* Sin autor, Obras de Alfonso Reyes, 79* Sin autor, Lector si quiere usted proteger eficazmente al Repertorio Americano, suscríbase, 79* Sin autor, Dr Constantino Herdocia, 80* Sin autor, Dr Eduardo Montealegre, 80* Sin autor, Dr. Alejandro Montero S.,80* Sin autor, Dr. Odio de Granda, 80* Sin autor, Repertorio Americano, 80* Sin autor, Cervecería Traube, 80* Sin Autor, Pegaso, 80* Sin autor, Botica Española, 80* Sin autor, Revista de Filosofía, 80* Sin autor, Talco El japonesito, 80

    Detection of visuoperceptual deficits in preclinical and mild Alzheimer's disease

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    Exhaustive neuropsychological assessment of mild cognitive impairment (MCI) subjects frequently identifies cognitive deficits other than memory. However, visuoperception has rarely been investigated in MCI. The 15-Objects Test (15-OT), a visual discrimination task based on the Poppelreuter Test, consists of 15 overlapping objects. Poppelreuter-type tests are frequently used to detect visual agnosia. However, more complex tests, such as the 15-OT, are required to detect visuoperceptual signs in those patients who perform correctly on simple tests. The aim of the present study was to investigate visuoperceptual deficits in MCI patients and to assess the usefulness of the 15-OT to discriminate Alzheimer’s disease (AD) and MCI patients from controls. The 15-OT, and a neuropsychological battery included in the diagnostic assessment, was administered to 44 healthy controls, 44 MCI patients, and 44 mild AD patients. Performance on the 15-OT was significantly different between groups. MCI scored between AD and controls. When MCI and AD patients had relatively normal performance on simple tests (Poppelreuter), increased significant abnormalities were found by a more difficult visuoperceptual test (15-OT). Regression analyses showed that the 15-OT was a significant predictor of group membership, but the Poppelreuter Test did not significantly contribute to the models. Visuoperceptual processing is impaired early in the clinical course of AD. The 15-OT allows detection of visuoperceptual deficits in the preclinical and mild AD stages, when classical tests are still unable to detect subtle deficits. So, its inclusion in neuropsychological batteries that are nowadays used in the clinical practice would allow increasing their diagnostic potential
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