Das Verbot der pränatalen Diagnostik spätmanifestierender Erkrankungen im deutschen Gendiagnostikgesetz – eine Diskussion medizinischer und rechtlicher Aspekte und deren Implikation für die medizinethische Diskussion

Definition of the problem The German Genetic Diagnosis Act (Genetic Diagnosis Act, GenDG) became effective on February 1, 2010. Although this act was welcomed by many, the debate surrounding some regulatory areas, for example, screening newborns, continues. One aspect of this new legislation, however, has received little attention: the prohibition of prenatal diagnosis of so-called late-onset diseases—where first symptoms only develop after completion of the 18th year of life—constitutes an internationally unique prohibition. In this publication, we would like to contribute to a more differentiated discussion of § 15(2) GenDG that sanctions this diagnosis. Arguments and conclusion There are arguments supporting this prohibition (especially the right of the child not to know). However, based on medical concerns as well as an analysis of ethical and legal pros and cons, we conclude that maintaining this general prohibition of diagnosing late-onset diseases might be insufficient as well as inconsistent with other regulations; thus, possible alternatives are discussed.     

An Integrated Hydrologic Modeling and Data Assimilation Framework

The Land Information System (LIS) is a multiscale hydrologic modeling and data assimilation framework that integrates the use of satellite and ground-based observational data products with advanced land-surface modeling tools to aid several application areas, including water resources management, numerical weather prediction, agricultural management, air quality, and military mobility assessment.     

Designing emotional, metaphoric, natural and intuitive interfaces for interactive art, edutainment and mobile communications

We are artists working since 1991 on the creation of interactive computer installations for which we design metaphoric, emotional, natural, intuitive and multi-modal interfaces. The interactive experiences we create are situated between art, design, entertainment and edutainment. When creating our interactive systems we often develop novel interface technologies that match conceptual and metaphoric content with technically novel interface solutions. While our main focus is to design interactive systems for the art context, our interactive or immersive systems also often find use in edutainment and in mobile communications areas. The following article summarizes some of our key concepts for our interface designs and presents some of our interactive technologies in more detail.     

Digging Deeper: Advancements in Visualization of Inhibitory Synapses in Neurodegenerative Disorders

Recent research has provided strong evidence that neurodegeneration may develop from an imbalance between synaptic structural components in the brain. Lately, inhibitory synapses communicating via the neurotransmitters GABA or glycine have come to the center of attention. Increasing evidence suggests that imbalance in the structural composition of inhibitory synapses affect deeply the ability of neurons to communicate effectively over synaptic connections. Progressive failure of synaptic plasticity and memory are thus hallmarks of neurodegenerative diseases. In order to prove that structural changes at synapses contribute to neurodegeneration, we need to visualize single-molecule interactions at synaptic sites in an exact spatial and time frame. This visualization has been restricted in terms of spatial and temporal resolution. New developments in electron microscopy and super-resolution microscopy have improved spatial and time resolution tremendously, opening up numerous possibilities. Here we critically review current and recently developed methods for high-resolution visualization of inhibitory synapses in the context of neurodegenerative diseases. We present advantages, strengths, weaknesses, and current limitations for selected methods in research, as well as present a future perspective. A range of new options has become available that will soon help understand the involvement of inhibitory synapses in neurodegenerative disorders.     

Emerging Insights on the Diverse Roles of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Chronic Liver Diseases: Cholesterol Metabolism and Beyond

Chronic liver diseases are commonly associated with dysregulated cholesterol metabolism. Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a serine protease of the proprotein convertase family that is mainly synthetized and secreted by the liver, and represents one of the key regulators of circulating low-density lipoprotein (LDL) cholesterol levels. Its ability to bind and induce LDL-receptor degradation, in particular in the liver, increases circulating LDL-cholesterol levels in the blood. Hence, inhibition of PCSK9 has become a very potent tool for the treatment of hypercholesterolemia. Besides PCSK9 limiting entry of LDL-derived cholesterol, affecting multiple cholesterol-related functions in cells, more recent studies have associated PCSK9 with various other cellular processes, including inflammation, fatty acid metabolism, cancerogenesis and visceral adiposity. It is increasingly becoming evident that additional roles for PCSK9 beyond cholesterol homeostasis are crucial for liver physiology in health and disease, often contributing to pathophysiology. This review will summarize studies analyzing circulating and hepatic PCSK9 levels in patients with chronic liver diseases. The factors affecting PCSK9 levels in the circulation and in hepatocytes, clinically relevant studies and the pathophysiological role of PCSK9 in chronic liver injury are discussed.     

Dissection of P2X4 and P2X7 Receptor Current Components in BV-2 Microglia

Microglia cells represent the immune system of the central nervous system. They become activated by ATP released from damaged and inflamed tissue via purinergic receptors. Ionotropic purinergic P2X4 and P2X7 receptors have been shown to be involved in neurological inflammation and pain sensation. Whether the two receptors assemble exclusively as homotrimers or also as heterotrimers is still a matter of debate. We investigated the expression of P2X receptors in BV-2 microglia cells applying the whole-cell voltage-clamp technique. We dissected P2X4 and P2X7 receptor-mediated current components by using specific P2X4 and P2X7 receptor blockers and by their characteristic current kinetics. We found that P2X4 and P2X7 receptors are activated independently from each other, indicating that P2X4/P2X7 heteromers are not of functional significance in these cells. The pro-inflammatory mediators lipopolysaccharide and interferon γ, if applied in combination, upregulated P2X4, but not P2X7 receptor-dependent current components also arguing against phenotypically relevant heteromerization of P2X4 and P2X7 receptor subunits.     

Epidemiological comparisons of problems and positive qualities reported by adolescents in 24 countries.

In this study, the authors compared ratings of behavioral and emotional problems and positive qualities on the Youth Self-Report (T. M. Achenbach & L. A. Rescorla, 2001) by adolescents in general population samples from 24 countries (N = 27,206). For problem scales, country effect sizes (ESs) ranged from 3% to 9%, whereas those for gender and age ranged from less than 1% to 2%. Scores were significantly higher for girls than for boys on Internalizing Problems and significantly higher for boys than for girls on Externalizing Problems. Bicountry correlations for mean problem item scores averaged .69. For Total Problems, 17 of 24 countries scored within one standard deviation of the overall mean of 35.3. In the 19 countries for which parent ratings were also available, the mean of 20.5 for parent ratings was far lower than the self-report mean of 34.0 in the same 19 countries (d = 2.5). Results indicate considerable consistency across 24 countries in adolescents' self-reported problems but less consistency for positive qualities. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

An asynchronously controlled EEG-based virtual keyboard: improvement of the spelling rate

An improvement of the information transfer rate of brain-computer communication is necessary for the creation of more powerful and convenient applications. This paper presents an asynchronously controlled three-class brain-computer interface-based spelling device [virtual keyboard (VK)], operated by spontaneous electroencephalogram and modulated by motor imagery. Of the first results of three able-bodied subjects operating the VK, two were successful, showing an improvement of the spelling rate sigma, the number of correctly spelled letters/min, up to sigma = 3.38 (average sigma = 1.99).     

Motor imagery and direct brain-computer communication

Motor imagery can modify the neuronal activity in the primary sensorimotor areas in a very similar way as observable with a real executed movement. One part of EEG-based brain-computer interfaces (BCI) is based on the recording and classification of circumscribed and transient EEG changes during different types of motor imagery such as, e.g., imagination of left-hand, right-hand, or foot movement. Features such as, e.g., band power or adaptive autoregressive parameters are either extracted in bipolar EEG recordings overlaying sensorimotor areas or from an array of electrodes located over central and neighboring areas. For the classification of the features, linear discrimination analysis and neural networks are used. Characteristic for the Graz BCI is that a classifier is set up in a learning session and updated after one or more sessions with online feedback using the procedure of “rapid prototyping.” As a result, a discrimination of two brain states (e.g., leftversus right-hand movement imagination) can be reached within only a few days of training. At this time, a tetraplegic patient is able to operate an EEG-based control of a hand orthosis with nearly 100% classification accuracy by mental imagination of specific motor commands     

Biomimic Vein-Like Transparent Conducting Electrodes with Low Sheet Resistance and Metal Consumption

In this contribution,inspired by the excellent resource management and material transport function of leaf veins,the electrical transport function of metallized leaf veins is mimicked from the material transport function of the vein networks.By electroless copper plating on real leaf vein networks with copper thickness of only several hundred nanometre up to several micrometre,certain leaf veins can be converted to transparent conductive electrodes with an ultralow sheet resistance 100 times lower than that of state-of-the-art indium tin oxide thin films,combined with a broadband optical transmission of above 80%in the UV–VIS–IR range.Additionally,the resource efficiency of the vein-like electrode is characterized by the small amount of material needed to build up the networks and the low copper consumption during metallization.In particular,the high current density transport capability of the electrode of>6000 A cm^−2 was demonstrated.These superior properties of the vein-like structures inspire the design of high-performance transparent conductive electrodes without using critical materials and may significantly reduce the Ag consumption down to<10%of the current level for mass production of solar cells and will contribute greatly to the electrode for high power density concentrator solar cells,high power density Li-ion batteries,and supercapacitors.