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.

Image-based delineation and classification of built heritage masonry

[EN]Fundación Zain is developing new built heritage assessment protocols. The goal is to objectivize and standardize the analysis and decision process that leads to determining the degree of protection of built heritage in the Basque Country. The ultimate step in this objectivization and standardization effort will be the development of an information and communication technology (ICT) tool for the assessment of built heritage. This paper presents the ground work carried out to make this tool possible: the automatic, image-based delineation of stone masonry. This is a necessary first step in the development of the tool, as the built heritage that will be assessed consists of stone masonry construction, and many of the features analyzed can be characterized according to the geometry and arrangement of the stones. Much of the assessment is carried out through visual inspection. Thus, this process will be automated by applying image processing on digital images of the elements under inspection. The principal contribution of this paper is the automatic delineation the framework proposed. The other contribution is the performance evaluation of this delineation as the input to a classifier for a geometrically characterized feature of a built heritage object. The element chosen to perform this evaluation is the stone arrangement of masonry walls. The validity of the proposed framework is assessed on real images of masonry walls.

Problems of industrial fisheries development in the Cross River State

The industrial fisheries as opposed to artisanal fisheries in Cross River State, Nigeria, is discussed, considering the prospect of industrial fisheries in the State and identifying the major fish and shrimp resources within the coastal waters. Industrial fishing was introduced in 1973 when the state government invited a Japaneese company to carry out a joint exploratory shrimp fishing venture. The contributions made by the Seastate Seafoods Company, the Eyib's Nutritional Food and the Arawak Fishing Companies towards the increase in the number of fishing fleet in the state are noted.

Utilization of agro-industrial wastes as fish feedstuffs in Nigeria

Fish feeding accounts for a substantial amount in the variable expenditure of a fish farming enterprises. There is a need to examine closely the potentials and advantages of locally available agro-industrial by-products, as possible substitutes for the conventional feedstuffs which are dwindling in supply, and escalating in their cost. A wide range of by products from plant, animal and industrial processes have been studied and posses nutrient composition which can be exploited as dietary ingredients for warm water species as the Tilapia and Clarias sp. Such useful by-products include poultry feathers, rice bran, soybean hulls and cocoa husks which are discarded as wastes. However, some processing treatments might be required to alleviate the toxic effects of possible anti-nutritional factors in the by-products, for the achievement of optimum benefit

Cálculo y diseño de una nave industrial con puente grúa

Cálculo y dimensionamiento de una nave industrial para la producción y almacenaje de bombas hidráulicas de pequeño y gran tamaño, con grúa puente de capacidad 6,3 Tn y una zona de oficinas donde se ubican los distintos departamentos de la empresa. Redactado en castellano.