[Targeted Early Detection and Prevention of Hereditary Colorectal Carcinomas].

Every year, about 60 000 people in Germany contract colo-rectal carcinoma. Hereditary factors are the cause in approx. 5 % and those affected often fall ill at a young age.

Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.

Background: Severe hereditary coagulation factor XIII deficiency is a rare homozygous bleeding disorder affecting one person in every two million individuals. In contrast, heterozygous factor XIII deficiency is more common, but usually not associated with severe hemorrhage such as intracranial bleeding or hemarthrosis. In most cases, the disease is caused by F13A gene mutations.

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Mutations in either the EXT1 or EXT2 genes lead to Multiple Osteochondromas (MO), an autosomal dominantly inherited disorder. This is a report on clinical findings and results of molecular analyses of both genes in 23 German patients affected by MO. Mutation screening was performed by using denaturing high performance liquid chromatography (dHPLC) and automated sequencing.

Association of a common polymorphism in the promoter of UCP2 with susceptibility to multiple sclerosis.

Uncoupling protein 2 (UCP2) is a member of the mitochondrial proton transport family that uncouples proton entry to the mitochondria from ATP synthesis. UCP2 expression levels have been linked to predisposition to diabetes and obesity. In addition, UCP2 prevents neuronal death and injury.

Multiple Sclerosis Severity Score: using disability and disease duration to rate disease severity.

Background: There is no consensus method for determining progression of disability in patients with multiple sclerosis (MS) when each patient has had only a single assessment in the course of the disease.

Methods: Using data from two large longitudinal databases, the authors tested whether cross-sectional disability assessments are representative of disease severity as a whole. An algorithm, the Multiple Sclerosis Severity Score (MSSS), which relates scores on the Expanded Disability Status Scale (EDSS) to the distribution of disability in patients with comparable disease durations, was devised and then applied to a collection of 9,892 patients from 11 countries to create the Global MSSS.