Annotated Chromosome Maps for Renal Disease

A combination of linkage analyses and association studies are currently employed to promote the identification of genetic factors contributing to inherited renal disease. We have standardized and merged complex genetic data from disparate sources, creating unique chromosomal maps to enhance genetic epidemiological investigations. This database and novel renal maps effectively summarize genomic regions of suggested linkage, association, or chromosomal abnormalities implicated in renal disease. Chromosomal regions associated with potential intermediate clinical phenotypes have been integrated, adding support for particular genomic intervals. More than 500 reports from medical databases, published scientific literature, and the World Wide Web were interrogated for relevant renal-related information. Chromosomal regions highlighted for prioritized investigation of renal complications include 3q13-26, 6q22-27, 10p11-15, 16p11-13, and 18q22. Combined genetic and physical maps are effective tools to organize genetic data for complex diseases. These renal chromosome maps provide insights into renal phenotype-genotype relationships and act as a template for future genetic investigations into complex renal diseases. New data from individual researchers and/or future publications can be readily incorporated to this resource via a user-friendly web-form accessed from the website: www.qub.ac.uk/neph-res/CORGI/index.php.

Positive dilations of piecewise monotonic Markov maps

We provide an explicit formula which gives natural extensions of piecewise monotonic Markov maps defined on an interval of the real line. These maps are exact endomorphisms and define chaotic discrete dynamical systems.

DISTORTION MAPS FROM PREFERENTIAL HYPERACUITY PERIMETRY ARE HELPFUL IN MONITORING FUNCTIONAL RESPONSE TO LUCENTIS THERAPY

Purpose: To use preferential hyperacuity perimetry to obtain a quantitative measure of central visual field distortion that would aid in the monitoring of functional responsiveness to ranibizumab treatment.

Secular trends, disease maps and ecological analyses of the incidence of childhood onset type 1 diabetes in Northern Ireland, 1989-2003

Aims To investigate secular trends in the incidence of Type 1 diabetes in Northern Ireland over the period 1989-2003. To highlight geographical variations in the incidence of Type 1 diabetes by producing disease maps and to compare incidence rates by relevant area characteristics.

Light emission from gold and silver thin films in a scanning tunneling microscope: role of contamination and interpretation of grain structure in photon maps

Scanning tunnelling microscope (STM) tip-induced light emission from Au and Ag has been studied. Thin film samples similar to100nm thick were prepared by thermal evaporation at 0.5nm/s onto a room-temperature glass substrate to produce grains of 20-50nm in lateral dimension at the surface. Light emission from the samples in the STM was quasi-simultaneously recorded with the topography, at 1.8V tip bias and 3-40nA current, alternating pixel by pixel at the same bias. Typically, a surface scan range of 150 nm x 150 nm was surveyed. Au, W and PtIr tips were used.

Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics

Objectives: Genetic testing for the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 has important implications for the clinical management of people found to carry a mutation. However, genetic testing is expensive and may be associated with adverse psychosocial effects. To provide a cost-efficient and clinically appropriate genetic counselling service, genetic testing should be targeted at those individuals most likely to carry pathogenic mutations. Several algorithms that predict the likelihood of carrying a BRCA1 or a BRCA2 mutation are currently used in clinical practice to identify such individuals.