The First Occurrence in the Fossil Record of an Aquatic Avian Twig-Nest with Phoenicopteriformes Eggs: Evolutionary Implication

14 p.

Evidence for classification of c.1852_1853AA > GC in MLH1 as a neutral variant for Lynch syndrome

Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this variant has no significant implications for LS. Methods: The following approach was used to assess the clinical significance of the p.Lys618Ala variant: frequency in a control population, case-control comparison, co-occurrence of the p.Lys618Ala variant with a pathogenic mutation, co-segregation with the disease and microsatellite instability in tumours from carriers of the variant. We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls). Three well-characterized LS families that fulfilled the Amsterdam II Criteria and consisted of members with the p.Lys618Ala variant were included to assess co-occurrence and co-segregation. A subset of colorectal tumour DNA samples from 17 patients carrying the p.Lys618Ala variant was screened for microsatellite instability using five mononucleotide markers. Results: Twenty-seven individuals were heterozygous for the p.Lys618Ala variant; nine had sporadic CRC (2.41%), seven were suspected of having hereditary CRC (2.8%) and 11 were controls (2.68%). There were no significant associations in the case-control and case-case studies. The p.Lys618Ala variant was co-existent with pathogenic mutations in two unrelated LS families. In one family, the allele distribution of the pathogenic and unclassified variant was in trans, in the other family the pathogenic variant was detected in the MSH6 gene and only the deleterious variant co-segregated with the disease in both families. Only two positive cases of microsatellite instability (2/17, 11.8%) were detected in tumours from p.Lys618Ala carriers, indicating that this variant does not play a role in functional inactivation of MLH1 in CRC patients. Conclusions: The p.Lys618Ala variant should be considered a neutral variant for LS. These findings have implications for the clinical management of CRC probands and their relatives.

A High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer

12 p.

Prognostic Role of Host Cyclooxygenase and Cytokine Genotypes in a Caucasian Cohort of Patients with Gastric Adenocarcinoma

11 p.

Cartas enviadas por Ramón María de Aldasoro a Justo Garate en 1940

8 cartas (mecanografiadas) ; 225x285 mmm. Ubicación: Caja 1 - Carpeta 20

A robust position control for induction machines

ICEM 2010

Carta enviada por Luis Arregi a Justo Garate en 1988

1 carta (manuscrita) ; 161x225mm. Ubicación: Caja 1 - Carpeta 57

Linear Chromatic Adaptation Transform Based on Delaunay Triangulation

Computer vision algorithms that use color information require color constant images to operate correctly. Color constancy of the images is usually achieved in two steps: first the illuminant is detected and then image is transformed with the chromatic adaptation transform ( CAT). Existing CAT methods use a single transformation matrix for all the colors of the input image. The method proposed in this paper requires multiple corresponding color pairs between source and target illuminants given by patches of the Macbeth color checker. It uses Delaunay triangulation to divide the color gamut of the input image into small triangles. Each color of the input image is associated with the triangle containing the color point and transformed with a full linear model associated with the triangle. Full linear model is used because diagonal models are known to be inaccurate if channel color matching functions do not have narrow peaks. Objective evaluation showed that the proposed method outperforms existing CAT methods by more than 21%; that is, it performs statistically significantly better than other existing methods.

The COMT Val158 Met polymorphism as an associated risk factor for Alzheimer disease and mild cognitive impairment in APOE 4 carriers

Background: The aim of this study is to examine the influence of the catechol-O-methyltranferase (COMT) gene (polymorphism Val158 Met) as a risk factor for Alzheimer's disease (AD) and mild cognitive impairment of amnesic type (MCI), and its synergistic effect with the apolipoprotein E gene (APOE). A total of 223 MCI patients, 345 AD and 253 healthy controls were analyzed. Clinical criteria and neuropsychological tests were used to establish diagnostic groups. The DNA Bank of the University of the Basque Country (UPV-EHU) (Spain) determined COMT Val158 Met and APOE genotypes using real time polymerase chain reaction (rtPCR) and polymerase chain reaction (PCR), and restriction fragment length polymorphism (RFLPs), respectively. Multinomial logistic regression models were used to determine the risk of AD and MCI. Results: Neither COMT alleles nor genotypes were independent risk factors for AD or MCI. The high activity genotypes (GG and AG) showed a synergistic effect with APOE epsilon 4 allele, increasing the risk of AD (OR = 5.96, 95% CI 2.74-12.94, p < 0.001 and OR = 6.71, 95% CI 3.36-13.41, p < 0.001 respectivily). In AD patients this effect was greater in women. In MCI patients such as synergistic effect was only found between AG and APOE epsilon 4 allele (OR = 3.21 95% CI 1.56-6.63, p = 0.02) and was greater in men (OR = 5.88 95% CI 1.69-20.42, p < 0.01). Conclusion: COMT (Val158 Met) polymorphism is not an independent risk factor for AD or MCI, but shows a synergistic effect with APOE epsilon 4 allele that proves greater in women with AD.

Carta enviada por José María de Azcárraga a Justo Garate en 1964

1 carta (manuscrita) : 275x214mm. Ubicación: Caja 1 - Carpeta 81

Cartas enviadas por José María Azcona a Justo Garate entre 1930 y 1936

7 cartas (mecanografiadas y manuscritas) ; entre 180x130mm y 214x139mm. Ubicación: Caja 1 - Carpeta 82

Sustitución del gen nirA entre cianobacterias termofílicas. Clonación, expresión y purificación de la nitrito reductasa de Thermosynechococcus elongatus BP-1

220 p.

Degradación de alcanos mediante Alcanivorax venutensis inmovilizada en hidrogeles adhesivos y biodegradables

188 p.

Materiales Condensados y con Estructura Abierta basados en Fosfitos de Metales 3d

438 p.

Estudio de la actividad aminopeptidásica en espermatozoides astenozoospérmicos : comparación clínica

249 p.: il., col.