0000000000063862
AUTHOR
P. J. Wilson
Novel VAMPIRE algorithms for quantitative analysis of the retinal vasculature
This paper summarizes three recent, novel algorithms developed within VAMPIRE, namely optic disc and macula detection, arteryvein classification, and enhancement of binary vessel masks, and their performance assessment. VAMPIRE is an international collaboration growing a suite of software tools to allow efficient quantification of morphological properties of the retinal vasculature in large collections of fundus camera images. VAMPIRE measurements are currently mostly used in biomarker research, i.e., investigating associations between the morphology of the retinal vasculature and a number of clinical and cognitive conditions.
Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene
A number of mutations in the X-chromosomal human iduronate-2-sulphatase gene have now been identified as the primary genetic defect leading to the clinical condition known as Hunter syndrome or mucopolysaccharidosis type II. The mutations that are tabulated include different deletions, splice-site and point mutations. From the group of 319 patients thus far studied by Southern analysis, 14 have a full deletion of the gene and 48 have a partial deletion or other gross rearrangements. All patients with full deletions or gross rearrangements have severe clinical presentations. Twenty-nine different "small" mutations have so far been characterised in a total of 32 patients. These include 4 nons…