Open standard CMO for parametric modelling based on semantic web

The Open Standard Concept Modelling Ontology (CMO) with Extensions makes it possible to store parametric modelling semantics and parametric geometry in a Semantic Web environment. The parametric and geometrical part of CMO with Extensions is developed within the EU project Proficient. The nature of the Semantic Web with support for multiple...

Translational research in genomics of Alzheimer's disease: A review of current practice and future perspectives

Alzheimer's disease (AD) is the most prevalent form of dementia and the number of cases is expected to increase exponentially worldwide. Three highly penetrant genes (AβPP, PSEN1, and PSEN2) explain only a small number of AD cases with a Mendelian transmission pattern. Many genes have been analyzed for association with non-Mendelian AD, but the...

Phenotypic and molecular characterization of Bruck syndrome (Osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

Bruck syndrome (BS) is a recessively-inherited phenotypic disorder featuring the unusual combination of skeletal changes resembling osteogenesis imperfects (OI) with congenital contractures of the large joints. Clinical heterogeneity is apparent in cases reported thus far. While the genes coding for collagen 1 chains are unaffected in BS, there...

Fundus reflectance: Historical and present ideas

In 1851 Helmholtz introduced the ophthalmoscope. The instrument allowed the observation of light reflected at the fundus. The development of this device was one of the major advancements in ophthalmology. Yet ophthalmoscopy allows only qualitative observation of the eye. Since 1950 attempts were made to address the challenging, quantitative...

Genetic analysis of indicators of cholesterol synthesis and absorption: Lathosterol and phytosterols in Dutch twins and their parents

Significant familial aggregation was observed for plasma levels of lathosterol (an indicator of whole-body cholesterol synthesis) and plant sterols campesterol and β-sitosterol (indicators of cholesterol absorption) in 160 Dutch families consisting of adolescent mono- and dizygotic twin pairs and their parents. For lathosterol a moderate genetic...

An amino acid polymorphism in histidine-rich glycoprotein (HRG) explains 59% of the variance in plasma HRG levels

A pedigree-based maximum likelihood method developed by Lange et al. (12) was used to study the contribution of a newly defined di-allelic polymorphism in histidine-rich glycoprotein (HRG) to the plasma levels of HRG. In four families (n = 99) and 20 volunteers we found a heritability of 70%, an age effect of 3% and an effect of individual...

Identification and genetic analysis of a common molecular variant of histidine-rich glycoprotein with a difference of 2KD in apparent molecular weight

Two forms of histidine-rich glycoprotein (HRG) were detected on SDS-PAGE by silver staining and immunoblotting after isolation of the protein from pooled plasma using immune-affinity chromatography followed by chromatography with heparin-Sepharose. Both forms were single-chain molecules and the apparent molecular weights of form 1 and form 2...

Triglyceride-rich lipoproteins of subjects heterozygous for apolipoprotein E2(Lys146 → Gln) are inefficiently converted to cholesterol-rich lipoproteins

The APOE*2(Lys146 → Gln) allele behaves like a dominant trait in the expression of familial dysbetalipoproteinemia (FD) (Smit et al., J. Lipid Res. 1990; 31: 45-53). FD patients carrying the APOE*2(Lys146 → Gln) allele exhibit less elevated cholesterol to triglyceride ratios in the d < 1.019 g/ml lipoprotein density fraction as compared to...

a2-Antiplasmin Enschede: Dysfunctional alpha 2-antiplasmin molecule associated with an autosomal recessive hemorrhagic disorder

??2-Antiplasmin (??2-AP) is a major fibrinolysis inhibitor, whose complete, congenital absence has been found to be associated with a distinct hemorrhagic diathesis. We studied a 15-yr-old male with a hemorrhagic diathesis after trauma from early childhood on. This bleeding tendency was associated with a minimal ??2-AP level recorded...

A familial hemorrhagic diathesis in a Dutch family: An inherited deficiency of ??2-antiplasmin

This study concerns a case of congenital homozygous deficiency in ??2-antiplasmin associated with a severe hemorrhagic diathesis. Heterozygous family members also show a mild bleeding tendency. The propositus is a 17-yr-old male born of white parents and showing a severe hemorrhagic diathesis characterized by spontaneous bleeding in the joints...