pinecone/core-2020-05-10-deduplication huggingface dataset:
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

Infantile Refsum disease (IRD) is one of the less severe of Zellweger spectrum disorders (ZSDs), a group of peroxisomal biogenesis disorders resulting from a generalized peroxisomal function impairment. Increased plasma levels of very long chain fatty acids (VLCFA) and phytanic acid are biomarkers used in IRD diagnosis. Furthermore, an increased plasma level of phytanic acid is known to be associated with neurologic damage. Treatment of IRD is symptomatic and multidisciplinary.The authors report a 3-year-old child, born from consanguineous parents, who presented with developmental delay, retinitis pigmentosa, sensorineural deafness and craniofacial dysmorphisms. While the relative level of plasma C26:0 was slightly increased, other VLCFA were normal. Thus, a detailed characterization of the phenotype was essential to point to a ZSD. Repeatedly increased levels of plasma VLCFA, along with phytanic acid and pristanic acid, deficient dihydroxyacetone phosphate acyltransferase activity in fibroblasts and identification of the homozygous pathogenic mutation c.2528G>A (p.Gly843Asp) in the PEX1 gene, confirmed this diagnosis. Nutritional advice and follow-up was proposed aiming phytanic acid dietary intake reduction. During dietary treatment, plasma levels of phytanic acid decreased to normal, and the patient's development evaluation showed slow progressive acquisition of new competences.This case report highlights the relevance of considering a ZSD in any child with developmental delay who manifests hearing and visual impairment and of performing a systematic biochemical investigation, when plasma VLCFA are mildly increased. During dietary intervention, a biochemical improvement was observed, and the long-term clinical effect of this approach needs to be evaluated.info:eu-repo/semantics/publishedVersio
Energy metabolism and clinical symptoms in beta-oxidation defects, especially long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a severe inborn error in the beta-oxidation of long-chain fatty acids. The disease presents during the first years of life. Hypoglycemia, hepatic manifestations, muscle hypotonia and episodes of rhabdomyolysis, cardiomyopathy and even sudden death are common symptoms. Despite life-long complicated treatment with a low fat diet and fasting avoidance, episodes of rhabdomyolysis and liver abnormalities may still occur. Patients with LCHAD develop chorioretinopathy, not seen in any other beta-oxidation deficiencies.



The aim of this thesis was to describe the clinical outcome for patients with LCHAD, and investigate the energy metabolism with particular emphasis on the dynamics of fasting. Ten patients were included in the studies.



The patients had rapid weight gain after diagnosis and initiation of dietary treatment. The nutritional surplus caused overweight and accelerated linear growth in the majority of the children, however not affecting final height.



Patients with LCHAD had a decreased fasting tolerance with increased lipolysis. Fat and carbohydrate metabolism during fasting was investigated by stable isotope technique, microdialysis, and biochemical measurements. Despite normal blood glucose and normal glucose production rate (19.6 ± 3.4 umol/kg/min), lipolysis was induced after 3–4 hours, shown by increased glycerol production rate (7.7 ± 1.6 umol/kg/min). Fatty acid intermediates, plasma and microdialysate glycerol levels were increased. Indirect calorimetry showed increased respiratory quotient, indicating mainly glucose oxidation. Our results imply that frequent meals are essential in order to avoid lipolysis and diminish accumulation of the incompletely degraded toxic fatty acid metabolites.



All patients developed ocular changes with retinal pigmentations and chorioretinopathy. Early diagnosis and treatment may delay but not prevent the ocular outcome.
Neuropsychological deficits were more common than expected, and demonstrated a specific cognitive pattern. The patients either had normal IQ scores with a particular weakness in auditive verbal memory and executive functions, or developmental delay and autistic behaviors.



In conclusion, this thesis shows that patients with LCHAD have an increased lipolysis with considerably impaired fasting tolerance. Shorter fasting intervals than has been advocated are thus crucial to reduce the accumulation of fatty acid metabolites and improve the metabolic control. The shorter fasting tolerance should be weighed against the increased the risk for overweight. All patients develop retinal and cognitive symptoms; however, these symptoms may be improved with good adherence to the complicated diet. Neuropsychological screening is important for the identification of special needs early on
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of pyrimidine metabolism that impairs the first step of uracil und thymine degradation. The spectrum of clinical presentations in subjects with the full biochemical phenotype of DPD deficiency ranges from asymptomatic individuals to severely affected patients suffering from seizures, microcephaly, muscular hypotonia, developmental delay and eye abnormalities.We report on a boy with intellectual disability, significant impairment of speech development, highly active epileptiform discharges on EEG, microcephaly and impaired gross-motor development. This clinical presentation triggered metabolic workup that demonstrated the biochemical phenotype of DPD deficiency, which was confirmed by enzymatic and molecular genetic studies. The patient proved to be homozygous for a novel c.2059-22T>G mutation which resulted in an in-frame insertion of 21 base pairs (c.2059-21_c.2059-1) of intron 16 of DPYD. Family investigation showed that the asymptomatic father was also homozygous for the same mutation and enzymatic and biochemical findings were similar to his severely affected son. When the child deteriorated clinically, exome sequencing was initiated under the hypothesis that DPD deficiency did not explain the phenotype completely. A deletion of the maternal allele on chromosome 15q11.2-13-1 was identified allowing the diagnosis of Angelman syndrome (AS). This diagnosis explains the patient's clinical presentation sufficiently; the influence of DPD deficiency on the phenotype, however, remains uncertain
Information and Media Literacy of Polish Children According to the Results of “Children of the Net” and “Children of the Net 2.0” Studies

No empirical multidimensional research investigated media and information literacy (MIL) of Polish children and youth until 2012. To fill that gap, we executed two projects: “Children of the Net: Communication Competencies of Children” (2012) and “Children of the Net 2.0: Communication Competencies of Youth” (2013). This paper presents our research findings. The studies aimed to identify the MIL level in students aged 9-13 and 13-16, respectively, and to explore competencies development contexts. We adopted a qualitative approach called a methodological bricolage which was described by Denzin and Lincoln. Central to the studies was competence assessment based on a structured qualitative interview (group 9-13) and a survey (group 13-16). Other research tasks based on different methods referred to the common framework, i.e. our MIL model. The findings provided knowledge about actual MIL competencies in the studied groups and helped establish where particular MIL competencies develop and children’s attitudes to new technology-mediated communication are shaped.Ministerstwo Kultury i Dziedzictwa Narodowego [Ministry of Culture and National Heritage
Metals foams for biomedical applications: Processing and mechanical properties

Optimized structures found in nature can be sometimes imitated in engineering structures. The recent interest in functionally graded metallic materials makes bone structures interesting because bones are naturally functionally graded1. The cellular structure of foam metals (Fig.1) is very similar to that of the cancellous bone; therefore, these metals can be considered as potential candidates for future implant applications if porosity level, size and shape, strength and biocompatibility aspects satisfy the design specifications of implants. Foam metals based on biocompatible metallic materials (e.g. Ti and Ti-6A1-4V) are expected to provide better interaction with bone. This is mainly due to higher degree of bone growth into porous surfaces and higher degree of body fluid transport through three-dimensional interconnected array of pores2 (open cell foam), leading to better interlocking between implant and bone and hence reducing or avoiding the well-known implant losening. Furthermore, the elastic modulus of foam metals can be easily tailored with porosity level to match that of natural bone, leading to a better performance by avoiding the high degree of elastic mismatch which currently exists between conventional solid metallic implants and bone.Technology Development Foundation of Turkey for the grant #TTGV-102/T1
Toward a Formal Semantics for Autonomic Components

Autonomic management can improve the QoS provided by parallel/ distributed
applications. Within the CoreGRID Component Model, the autonomic management is
tailored to the automatic - monitoring-driven - alteration of the component
assembly and, therefore, is defined as the effect of (distributed) management
code. This work yields a semantics based on hypergraph rewriting suitable to
model the dynamic evolution and non-functional aspects of Service Oriented
Architectures and component-based autonomic applications. In this regard, our
main goal is to provide a formal description of adaptation operations that are
typically only informally specified. We contend that our approach makes easier
to raise the level of abstraction of management code in autonomic and adaptive
applications.Comment: 11 pages + cover pag
Innovation and entrepreneurship: What professors from leading universities say

As innovation is essential for the competitiveness of enterprises and economic development there is a question which has been raised with some insistence: Do teaching practices make a difference to innovation and entrepreneurship in the work place? Experts were contacted for their views. They say yes, as long as the teaching method is adequate. So, in the USA, a naturally innovative society, a new concept of integrated teaching was developed - “hands-on” to increase innovation ever more in North America. This concept proved also to be successful in a non-innovative society as is demonstrated by the case of MIETE (a partnership between FEUP and FEP, University of Porto) in Portugal
Handling QoS dependencies in distributed cooperative real-time systems

Due to the growing complexity and adaptability requirements of real-time embedded systems, which often exhibit
unrestricted inter-dependencies among supported services and user-imposed quality constraints, it is increasingly
difficult to optimise the level of service of a dynamic task set within an useful and bounded time. This is even more
difficult when intending to benefit from the full potential of an open distributed cooperating environment, where service
characteristics are not known beforehand. This paper proposes an iterative refinement approach for a service’s QoS
configuration taking into account services’ inter-dependencies and quality constraints, and trading off the achieved
solution’s quality for the cost of computation. Extensive simulations demonstrate that the proposed anytime algorithm is
able to quickly find a good initial solution and effectively optimises the rate at which the quality of the current solution
improves as the algorithm is given more time to run. The added benefits of the proposed approach clearly surpass its
reducedoverhead
Expressing environment assumptions and real-time requirements for a distributed embedded system with shared variables

Apresentado na 6th IFIP TC10 Working Conference on Distributed and Parallel Embedded Systems (DIPES 2008), no âmbito do 20th IFIP World Computer Congress, Milão, Itália, set/2008.In a distributed embedded system, it is often necessary to share variables among its computing nodes to allow the distribution of control algorithms. It is therefore necessary to include a component in each node that provides the service of variable sharing. For that type of component, this paper discusses how to create a Colored Petri Nets (CPN) model that formally expresses the following elements in a clearly separated structure: (1) assumptions about the behavior of the environment of the component, (2) real-time requirements for the component, and (3) a possible solution in terms of an algorithm for the component. The CPN model can be used to validate the environment assumptions and the requirements. The validation is performed by execution of the model during which traces of events and states are automatically generated and evaluated against the requirements
Universal Coinductive Characterisations of Process Semantics

We present a theoretical framework which allows to define in a uniform way coinductive characterisations of nearly any semantic preorder or equivalence between processes, by means of simulations up-to and bisimulations up-to. In particular, all the semantics in the linear time-branching time spectrum are covered. Constrained simulations, that generalise plain simulations by including a constraint that all the pairs of related processes must satisfy, are the key to obtain such a general framework. We provide a simple axiomatisation of any constrained simulation preorder and also for the corresponding equivalence. These axiomatizations allow us to prove in a uniform way that each constrained simulation preorder (equivalence) defines a class of process preorders (equivalences) which share commons properties, like the possibility of giving coinductive characterisations for all of them, or the existence of a canonical preorder inducing each of these equivalences
A Light-Weight Multi-Agent System Manages 802.11 Mesh Networks

A light-weight multi-agent system is employed in a self-organisation of multi-radio mesh networks project to manage 802.11 mesh networks. As 802.11 mesh networks can be extremely large the two main challenges are the scalability and stability of the solution. The basic approach is that of a distributed, light-weight, co-operative multiagent system that guarantees scalability. As the solution is distributed it is unsuitable to achieve any global optimisation goal in any case, we argue that global optimisation of mesh network performance in any significant sense is not feasible in real situations that are subjected to unanticipated perturbations and external intervention. Our overall goal is simply to reduce maintenance costs for such networks by removing the need for humans to tune the network settings. So stability of the algorithms is our main concern
Smart Communications Network Management Through a Synthesis of Distributed Intelligence and Information

Demands on communications networks to support bundled, interdependent communications services (data, voice, video) are increasing in complexity. Smart network management techniques are required to meet this demand. Such management techniques are envisioned to be based on two main technologies: (i) embedded intelligence; and (ii) up-to-the-millisecond delivery of performance information. This paper explores the idea of delivery of intelligent network management as a synthesis of distributed intelligence and information, obtained through information mining of network performance
Teaching Autonomous Agents to Move in a Believable Manner within Virtual Institutions

Believability of computerised agents is a growing area of research. This paper is focused on one aspect of believability believable movements of avatars in normative 3D Virtual Worlds called Virtual Institutions. It presents a method for implicit training of autonomous agents in order to believably represent humans in Virtual Institutions. The proposed method does not require any explicit training efforts from human participants. The contribution is limited to the lazy learning methodology based on imitation and algorithms that enable believable movements by a trained autonomous agent within a Virtual Institution
PLM-based approach for collaborative design between OEM and suppliers : case study of aeronautic industry.

To achieve different assembly operations on the aircraft structure, the aeronautic OEM needs to create and manage various fixture tools. To cope with these needs, the OEM begun to adopt the supplier integration into the tooling development process. This paper presents a conceptual PLM-based approach to support new business partnership of different suppliers. The new business partnership aims to improve the role of supplier in the different tasks of design, configuration and fabrication of the tooling. The use of the PLM concepts is proposed to enhance the collaboration between OEM and the equipment's suppliers. UML models are proposed to specify the structure of the PLM solution. These models describe the relation between the aircraft assembly project, and the tooling design process
Statistical Computing on Non-Linear Spaces for Computational Anatomy

International audienceComputational anatomy is an emerging discipline that aims at analyzing and modeling the individual anatomy of organs and their biological variability across a population. However, understanding and modeling the shape of organs is made difficult by the absence of physical models for comparing different subjects, the complexity of shapes, and the high number of degrees of freedom implied. Moreover, the geometric nature of the anatomical features usually extracted raises the need for statistics on objects like curves, surfaces and deformations that do not belong to standard Euclidean spaces. We explain in this chapter how the Riemannian structure can provide a powerful framework to build generic statistical computing tools. We show that few computational tools derive for each Riemannian metric can be used in practice as the basic atoms to build more complex generic algorithms such as interpolation, filtering and anisotropic diffusion on fields of geometric features. This computational framework is illustrated with the analysis of the shape of the scoliotic spine and the modeling of the brain variability from sulcal lines where the results suggest new anatomical findings
Managing Linguistic Data Summaries in Advanced P2P Applications

chapitre... à corrigerAs the amount of stored data increases, data localization techniques become no longer sufficient in P2P systems. A practical approach is to rely on compact database summaries rather than raw database records, whose access is costly in large P2P systems. In this chapter, we describe a solution for managing linguistic data summaries in advanced P2P applications which are dealing with semantically rich data. The produced summaries are synthetic, multidimensional views over relational tables. The novelty of this proposal relies on the double summary exploitation in distributed P2P systems. First, as semantic indexes, they support locating relevant nodes based on their data descriptions. Second, due to their intelligibility, these summaries can be directly queried and thus approximately answer a query without the need for exploring original data. The proposed solution consists first in defining a summary model for hierarchical P2P systems. Second, appropriate algorithms for summary creation and maintenance are presented. A query processing mechanism, which relies on summary querying, is then proposed to demonstrate the benefits that might be obtained from summary exploitation
Behavioral Equivalences

Beahvioral equivalences serve to establish in which cases two reactive (possible concurrent) systems offer similar interaction capabilities relatively to other systems representing their operating environment. Behavioral equivalences have been mainly developed in the context\ud
of process algebras, mathematically rigorous languages that have been used for describing and verifying properties of concurrent communicating systems. By relying on the so called structural operational semantics (SOS), labelled transition systems, are associated to each term of a process\ud
algebra. Behavioral equivalences are used to abstract from unwanted details and identify those labelled transition systems that react “similarly” to external experiments. Due to the large number of properties which may be relevant in the analysis of concurrent systems, many different theories\ud
of equivalences have been proposed in the literature. The main contenders consider those systems equivalent that (i) perform the same sequences of actions, or (ii) perform the same sequences of actions and after each sequence are ready to accept the same sets of actions, or (iii) perform the\ud
same sequences of actions and after each sequence exhibit, recursively, the same behavior. This approach leads to many different equivalences that preserve significantly different properties of systems
Enlarging the European Union: Taxation and Corruption in the New Member States

This paper addresses the run up to the recent European Union enlargement. It considers the accession of 10 Eastern European countries in view of the pre-existing economic conditions. The paper also raises the question how the new member states can tackle their deficit problems. In particular, the paper pays attention to the question at what point the emphasis should be placed on cutting expenditure rather than raising revenues. Furthermore, the paper addresses tax capacity and tax effort in the new member states. Finally, the paper looks at possible negative relationships between corruption and tax effort on the one hand and corruption and foreign direct investments on the other.
Curvelets and Ridgelets

International audienceDespite the fact that wavelets have had a wide impact in image processing, they fail to efficiently represent objects with highly anisotropic elements such as lines or curvilinear structures (e.g. edges). The reason is that wavelets are non-geometrical and do not exploit the regularity of the edge curve. The Ridgelet and the Curvelet [3, 4] transforms were developed as an answer to the weakness of the separable wavelet transform in sparsely representing what appears to be simple building atoms in an image, that is lines, curves and edges. Curvelets and ridgelets take the form of basis elements which exhibit high directional sensitivity and are highly anisotropic [5, 6, 7, 8]. These very recent geometric image representations are built upon ideas of multiscale analysis and geometry. They have had an important success in a wide range of image processing applications including denoising [8, 9, 10], deconvolution [11, 12], contrast enhancement [13], texture analysis [14, 15], detection [16], watermarking [17], component separation [18], inpainting [19, 20] or blind source separation[21, 22]. Curvelets have also proven useful in diverse fields beyond the traditional image processing application. Let’s cite for example seismic imaging [10, 23, 24], astronomical imaging [25, 26, 27], scientific computing and analysis of partial differential equations [28, 29]. Another reason for the success of ridgelets and curvelets is the availability of fast transform algorithms which are available in non-commercial software packages following the philosophy of reproducible research, see [30, 31]