Activation of morphogenesis and proliferation by low specificity chemical effectors

Activation of highly specific biochemical processes by simple chemical agents is demonstrated for morphogenesis (anlage and development of female gametophyte in cereal) and mitosis (in cell cultures and animal and plant tissues). The effects of these agents are tissue-specific. Structure--activity relationship is analyzed in this group of compounds. Thus, the phenomenon reveals the exact pathways of the influence of allelopathic and anthropogenic chemical agents on evolution of plant biocenoses.     

Imaging of left main trauma during diagnostic cardiac catheterization with intravascular ultrasound

In this case report the occurrence of a catheter-induced coronary artery dissection is described. In our patient, angiography showed a mushroom-shaped exudate above the left main coronary artery. Intravascular ultrasound revealed a circular dissection with a huge false lumen connected to the true lumen by a small intimal tear. A brief review of the literature on catheter-induced coronary dissection is included. We believe that this case report provides a good illustration of the need for careful reviewing of indications for angiography. Although procedural risks are low, angiography remains an invasive diagnostic test with the potential to cause severe complications.     

Initial results and long-term clinical follow-up of an amorphous hydrogenated silicon-carbide-coated stent in daily practice

The hemocompatibility and biocompatibility of a stent are determined by the physical and electrochemical properties of the stent surface. The aim of this study was to determine the feasibility, safety and efficacy of implantation of a stent coated with silicon carbide. Baseline characteristics were collected prospectively. The occurrence of cardiac adverse events and the angina score were assessed at clinical follow-up. A total of 193 Tensum stents were implanted in 174 patients. In hospital, one patient experienced stent thrombosis and in 6% of the patients a creatinine kinase elevation to 240 U/l or more occurred. Long-term follow-up was performed in 172 patients, with a mean follow-up of 454 +/- 181 days. Ninety-seven per cent were still alive, 15% had undergone target-vessel revascularization, and 2% had angiographic restenosis and were treated with medication only. Seventy-one per cent of the patients were free of anginal complaints, and 20% had anginal complaints in Canadian Cardiac Society class I or II. The Tensum coronary stent showed to be a safe and efficacious device in this study, with a high primary success rate and favorable long-term clinical followup.     

Linkage disequilibrium patterns and tagSNP transferability among European populations

The pattern of linkage disequilibrium (LD) is critical for association studies, in which disease-causing variants are identified by allelic association with adjacent markers. The aim of this study is to compare the LD patterns in several distinct European populations. We analyzed four genomic regions (in total, 749 kb) containing candidate genes for complex traits. Individuals were genotyped for markers that are evenly distributed at an average spacing of approximately 2-4 kb in eight population-based samples from ongoing epidemiological studies across Europe. The Centre d'Etude du Polymorphisme Humain (CEPH) trios of the HapMap project were included and were used as a reference population. In general, we observed a conservation of the LD patterns across European samples. Nevertheless, shifts in the positions of the boundaries of high-LD regions can be demonstrated between populations, when assessed by a novel procedure based on bootstrapping. Transferability of LD information among populations was also tested. In two of the analyzed gene regions, sets of tagging single-nucleotide polymorphisms (tagSNPs) selected from the HapMap CEPH trios performed surprisingly well in all local European samples. However, significant variation in the other two gene regions predicts a restricted applicability of CEPH-derived tagging markers. Simulations based on our data set show the extent to which further gain in tagSNP efficiency and transferability can be achieved by increased SNP density.     

Next Generation Sequencing in der diagnostischen Praxis

Next generation sequencing (NGS) allows whole exome or whole genome sequencing for a given patient to be performed timely and at reasonable cost. This diagnostic quantum leap not only has various legal, ethical and economical aspects but will naturally also impact upon patient care. Currently, however, the wide-spread introduction of NGS into routine diagnostics is facing many obstacles. In particular, it is to be expected that NGS will identify a large number of rare variants in a given patient that are of (yet) unknown clinical significance. As a first step towards solving this problem, we introduce the concept of a database that will systematically integrate genotypic and phenotypic information from the German health care context. Not only will this resource be of great scientific value, but the database shall also provide human geneticists with the evidence base necessary for the reliable evaluation of their patient-related sequencing data.     

Phylogeny and expression of carbonic anhydrase-related proteins

Background  

Carbonic anhydrases (CAs) are found in many organisms, in which they contribute to several important biological processes. The vertebrate α-CA family consists of 16 subfamilies, three of which (VIII, X and XI) consist of acatalytic proteins. These are named carbonic anhydrase related proteins (CARPs), and their inactivity is due to absence of one or more Zn-binding histidine residues. In this study, we analyzed and evaluated the distribution of genes encoding CARPs in different organisms using bioinformatic methods, and studied their expression in mouse tissues using immunohistochemistry and real-time quantitative PCR.     

Genetische Determinanten des EKG

Soon after the introduction of the electrocardiogram (ECG), the high heritabilities of many ECG parameters were recognized. About a decade ago the identification of underlying genetic variants was initiated. With the advent of genome-wide association studies, an adequate method exists to comprehensively identify heart-rhythm-associated genes and gene variants. Their molecular characterization will not only enhance our level of understanding of cardiac electrophysiology but will also offer a future option for improving therapeutic and preventive strategies against arrhythmias and sudden cardiac death.