Leitlinien zur molekulargenetischen Diagnostik: Fragiles-X und Fragiles-X assoziiertes Tremor/Ataxie Syndrom

Ohne Zusammenfassung

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Hierarchical analysis of piecewise affine models of gene regulatory networks

A key point in the analysis of dynamical models of biological systems is to handle systems of relatively high dimensions. In the present paper we propose a method to hierarchically organize a certain type of piecewise affine (PWA) differential systems. This specific class of systems has been extensively studied for the past few years, as it provides a good framework to model gene regulatory networks. The method, shown on several examples, allows a qualitative analysis of the asymptotic behavior of a PWA system, decomposing it into several smaller subsystems. This technique, based on the well-known strongly connected components decomposition, is not new. However, its adaptation to the non-smooth PWA differential equations turns out to be quite relevant because of the strong discrete structure underlying these equations. Its biological relevance is shown on a 7-dimensional PWA system modeling the gene network responsible for the carbon starvation response in Escherichia coli.

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Compositional reasoning of performance in component-based distributed systems

Rapid prototyping of distributed systems can be achieved by integrating commercial off-the-shelf (COTS) components. With components as the building blocks, it is important to predict the performance of the system based on the performance of individual components. In this paper, performance prediction of a system consisting of a small number of components is investigated under different inter-component communication patterns, and the number of threads provided by components. Based on the experimental results, it can be inferred that the proposed composition rules provide a reasonably accurate prediction of the performance of a system made out of these components.

Syndromic Surveillance and Patients as Victims and Vectors

Syndromic surveillance uses new ways of gathering data to identify possible disease outbreaks. Because syndromic surveillance can be implemented to detect patterns before diseases are even identified, it poses novel problems for informed consent, patient privacy and confidentiality, and risks of stigmatization. This paper analyzes these ethical issues from the viewpoint of the patient as victim and vector. It concludes by pointing out that the new International Health Regulations fail to take full account of the ethical challenges raised by syndromic surveillance.

Individual variability of behavioural responses by Wandering Albatrosses (Diomedea exulans) to human disturbance

Sub-Antarctic Marion Island has had a permanent research station for 50 years and the islands Wandering Albatrosses have been intensively studied for 20 years. The reactions of breeding birds to approaches by a human on foot were recorded. Three response variables were calculated: intensity of vocal reaction (IVR), intensity of non-vocal reaction (INR) and overall response index (ORI). At 5 m from the nest, twice as many birds stood and/or vocalised as at 15 m. Nearest neighbour distance, age and gender did not explain individual variability of responses. Study colony birds had higher IVR scores than non-study colony birds; birds at colonies closest to the station had the highest ORI scores. A better breeding record was associated with lower IVR and ORI scores, but a causative relationship remains to be demonstrated. A minimum viewing distance of 25 m is recommended for breeding Wandering Albatrosses.

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A self-managing wide-area data streaming service

Efficient and robust data streaming services are a critical requirement of emerging Grid applications, which are based on seamless interactions and coupling between geographically distributed application components. Furthermore the dynamism of Grid environments and applications requires that these services be able to continually manage and optimize their operation based on system state and application requirements. This paper presents a design and implementation of such a self-managing data-streaming service based on online control strategies. A Grid-based fusion workflow scenario is used to evaluate the service and demonstrate its feasibility and performance.

The Evolution of Complex Organs

The origin of complex biological structures has long been a subject of interest and debate. Two centuries ago, natural explanations for their occurrence were considered inconceivable. However, 150 years of scientific investigation have yielded a conceptual framework, abundant data, and a range of analytical tools capable of addressing this question. This article reviews the various direct and indirect evolutionary processes that contribute to the origins of complex organs. The evolution of eyes is used as a case study to illustrate these concepts, and several of the most common misconceptions about complex organ evolution are discussed.

Hennigian Phylogenetic Systematics and the ‘Groundplan’ vs. ‘Post-Groundplan’ Approaches: A Reply to Kukalová-Peck

The recent contribution by Jarmila Kukalová-Peck on Hennigian phylogenetics and hexapod limb evolution is critically evaluated.

Is it a revolution?

Jablonka and Lamb's claim that evolutionary biology is undergoing a ‘revolution’ is queried. But the very concept of revolutionary change has uncertain application to a field organized in the manner of contemporary biology. The explanatory primacy of sequence properties is also discussed.

Gridcast—a next generation broadcast infrastructure?

Gridcast is an R&D project investigating grid ideas and technologies in the broadcasting technical infrastructure. In this paper I discuss the business and technical issues in building infrastructures to support broadcasters and outline the structure of the Gridcast grid-based service oriented architecture for broadcasting playout support.

The connectionist framework for gene regulation

I show that gene regulation networks are qualitatively consistent and therefore sufficiently similar to linearly seperable connectionist networks to warrant that the connectionist framework be applied to gene regulation. On this view, natural selection designs gene regulation networks to overcome the difficulty of development. I offer some general lessons about their evolvability that can be learned by examining the generic features of connectionist networks.

Causal Explanation of Indonesian Forest Fires: Concepts, Applications, and Research Priorities

Problems with studies, claims, and assumptions that have been made about the causes of fires in Indonesia's tropical moist forests are identified, and the kinds of concepts, methods, prioritizing, and data needed to resolve the problems are discussed. Separate sections are devoted to studying ignitions, studying fire susceptibility and fire behavior, and using the goal of causal explanation to guide interdisciplinary research.

Predictive performance modelling of parallel component compositions

Large-scale scientific computing applications frequently make use of closely-coupled distributed parallel components. The performance of such applications is therefore dependent on the component parts and their interaction at run-time. This paper describes a methodology for predictive performance modelling and evaluation of parallel applications composed of multiple interacting components. In this paper, the fundamental steps and required operations involved in the modelling and evaluation process are identified—including component decomposition, component model combination, M×N communication modelling, dataflow analysis and overall performance evaluation. A case study is presented to illustrate the modelling process and the methodology is verified through experimental analysis.

Does Tenure Matter? A Comparative Analysis of Agricultural Expansion in the Mosquitia Forest Corridor

This article compares how public protection of forests and common-property forest institutions serve to control outside encroachment into frontier forests in Honduras and Nicaragua. The article combines institutional analysis with ethnographically based fieldwork and analysis of land-cover images to evaluate how property-rights arrangements influence monitoring, enforcement, and compliance with rules to restrict agricultural expansion in two biosphere reserves in the Mosquitia Corridor. Findings show that territorial demarcation and common-property rights are important components for frontier forest conservation. In areas with weak enforcement mechanisms and heavy reliance on social norms over official regulatory measures, the findings suggest that the perceived legitimacy of tenure arrangements and their respective land-use rules are fundamental to controlling the agricultural frontier.

Navigating Diagnoses: Understanding Mind–Body Relations, Mental Health, and Stigma in Nepal

Anthropologists and psychiatrists traditionally have used the salience of a mind–body dichotomy to distinguish Western from non-Western ethnopsychologies. However, despite claims of mind–body holism in non-Western cultures, mind–body divisions are prominent in non-Western groups. In this article, we discuss three issues: the ethnopsychology of mind–body dichotomies in Nepal, the relationship between mind–body dichotomies and the hierarchy of resort in a medical pluralistic context, and, finally, the role of mind–body dichotomies in public health interventions (biomedical and psychosocial) aimed toward decreasing the stigmatization of mental illness. We assert that, by understanding mind–body relations in non-Western settings, their implications, and ways in which to reconstitute these relations in a less stigmatizing manner, medical anthropologists and mental health workers can contribute to the reduction of stigma in global mental health care.

Towards dynamical system models of language-related brain potentials

Event-related brain potentials (ERP) are important neural correlates of cognitive processes. In the domain of language processing, the N400 and P600 reflect lexical-semantic integration and syntactic processing problems, respectively. We suggest an interpretation of these markers in terms of dynamical system theory and present two nonlinear dynamical models for syntactic computations where different processing strategies correspond to functionally different regions in the system’s phase space.

Adaptationism and the adaptive landscape

Debates over adaptationism can be clarified and partially resolved by careful consideration of the ‘grain’ at which evolutionary processes are described. The framework of ‘adaptive landscapes’ can be used to illustrate and facilitate this investigation. We argue that natural selection may have special status at an intermediate grain of analysis of evolutionary processes. The cases of sickle-cell disease and genomic imprinting are used as case studies.