Influence of the LILRA3 Deletion on Multiple Sclerosis Risk: Original Data and Meta-Analysis.

BACKGROUND Multiple sclerosis (MS) is a neurodegenerative, autoimmune disease of the central nervous system. Genome-wide association studies (GWAS) have identified over hundred polymorphisms with modest individual effects in MS susceptibility and they have confirmed the main individual effect of the Major Histocompatibility Complex. Additional risk loci with immunologically relevant genes were found significantly overrepresented. Nonetheless, it is accepted that most of the genetic architecture underlying susceptibility to the disease remains to be defined. Candidate association studies of the leukocyte immunoglobulin-like receptor LILRA3 gene in MS have been repeatedly reported with inconsistent results. OBJECTIVES In an attempt to shed some light on these controversial findings, a combined analysis was performed including the previously published datasets and three newly genotyped cohorts. Both wild-type and deleted LILRA3 alleles were discriminated in a single-tube PCR amplification and the resulting products were visualized by their different electrophoretic mobilities. RESULTS AND CONCLUSION Overall, this meta-analysis involved 3200 MS patients and 3069 matched healthy controls and it did not evidence significant association of the LILRA3 deletion [carriers of LILRA3 deletion: p = 0.25, OR (95% CI) = 1.07 (0.95-1.19)], even after stratification by gender and the HLA-DRB1*15:01 risk allele.

The molecular architecture of the TNF superfamily.

Ligands of the TNF (tumour necrosis factor) superfamily have pivotal roles in the organization and function of the immune system, and are implicated in the aetiology of several acquired and genetic diseases. TNF ligands share a common structural motif, the TNF homology domain (THD), which binds to cysteine-rich domains (CRDs) of TNF receptors. CRDs are composed of structural modules, whose variation in number and type confers heterogeneity upon the family. Protein folds reminiscent of the THD and CRD are also found in other protein families, raising the possibility that the mode of interaction between TNF and TNF receptors might be conserved in other contexts.

Genetic and phenotypic architecture of metabolic syndrome-associated components in dyslipidemic and normolipidemic subjects: the GEMS Study.

Atherogenic dyslipidemia, manifest by low HDL-cholesterol and high TG levels, is an important component of ATP-III defined metabolic syndrome. Here, we dissected the phenotypic and genetic architecture of these traits by assessing their relationships with other metabolically relevant measures, including plasma adipo-cytokines, highly sensitive C-reactive protein (hsCRP) and LDL particle size, in a large family data set (n=2800) and in an independent set of dyslipidemic cases (n=716) and normolipidemic controls (n=1073). We explored the relationships among these phenotypes using variable clustering and then estimated their genetic heritabilities and cross-trait correlations. In families, four clusters explained 61% of the total variance, with one adiposity-related cluster (including hsCRP), one BP-related cluster, and two lipid-related clusters (HDL-C, TG, adiponectin and LDL particle size; apoB and non-HDL-C). A similar structure was observed in dyslipidemic cases and normolipidemic controls. The genetic correlations in the families largely paralleled the phenotype clustering results, suggesting that common genes having pleiotropic effects contributed to the correlations observed. In summary, our analyses support a model of metabolic syndrome with two major components, body fat and lipids, each with two subcomponents, and quantifies their degree of overlap with each other and with metabolic-syndrome related measures (adipokines, LDL particle size and hsCRP).

@neurIST infrastructure for advanced disease management through integration of heterogeneous data, computing, and complex processing services

The increasing volume of data describing humandisease processes and the growing complexity of understanding, managing, and sharing such data presents a huge challenge for clinicians and medical researchers. This paper presents the@neurIST system, which provides an infrastructure for biomedical research while aiding clinical care, by bringing together heterogeneous data and complex processing and computing services. Although @neurIST targets the investigation and treatment of cerebral aneurysms, the system’s architecture is generic enough that it could be adapted to the treatment of other diseases.Innovations in @neurIST include confining the patient data pertaining to aneurysms inside a single environment that offers cliniciansthe tools to analyze and interpret patient data and make use of knowledge-based guidance in planning their treatment. Medicalresearchers gain access to a critical mass of aneurysm related data due to the system’s ability to federate distributed informationsources. A semantically mediated grid infrastructure ensures that both clinicians and researchers are able to seamlessly access andwork on data that is distributed across multiple sites in a secure way in addition to providing computing resources on demand forperforming computationally intensive simulations for treatment planning and research.

Towards a user-friendly webservice architecture for statistical machine translation in the PANACEA project

This paper presents a webservice architecture for Statistical Machine Translation aimed at non-technical users. A workfloweditor allows a user to combine different webservices using a graphical user interface. In the current state of this project,the webservices have been implemented for a range of sentential and sub-sententialaligners. The advantage of a common interface and a common data format allows the user to build workflows exchanging different aligners.

Centralised versus Decentralised Management of Patients's Medical Records

For more than 20 years, many countries have been trying to set up a standardised medical record at the regional or at the national level. Most of them have not reached this goal, essentially due to two main difficulties related to patient identification and medical records standardisation. Moreover, the issues raised by the centralisation of all gathered medical data have to be tackled particularly in terms of security and privacy. We discuss here the interest of a noncentralised management of medical records which would require a specific procedure that gives to the patient access to his/her distributed medical data, wherever he/she is located.

Reconfigurable Architecture To Estimate The Motion Of An Underwater Vehicle

This work proposes a parallel architecture for a motion estimation algorithm. It is well known that image processing requires a huge amount of computation, mainly at low level processing where the algorithms are dealing with a great numbers of data-pixel. One of the solutions to estimate motions involves detection of the correspondences between two images. Due to its regular processing scheme, parallel implementation of correspondence problem can be an adequate approach to reduce the computation time. This work introduces parallel and real-time implementation of such low-level tasks to be carried out from the moment that the current image is acquired by the camera until the pairs of point-matchings are detected

A Note on Interviewer Performance Measures in centralised CATI Surveys

Interviewer performance with respect to convincing sample members to participate in surveys is an important dimension of survey quality. However, unlike in CAPI surveys where each sample case 'belongs' to one interviewer, there are hardly any good measures of interview performance for centralised CATI surveys, where even single contacts are assigned to interviewers at random. If more than one interviewer works one sample case, it is not clear how to attribute success or failure to the interviewers involved. In this article, we propose two correlated methods to measure interviewer contact performance in centralised CATI surveys. Their modelling must take complex multilevel clustering effects, which need not be hierarchical, into account. Results are consistent with findings from CAPI data modelling, and we find that when comparing effects with a direct ('naive') measure of interviewer contact results, interviewer random effects are largely underestimated using the naive measure.

Subjective mental time: the functional architecture of projecting the self to past and future.

Abstract Human experience takes place in the line of mental time (MT) created through 'self-projection' of oneself to different time-points in the past or future. Here we manipulated self-projection in MT not only with respect to one's life events but also with respect to one's faces from different past and future time-points. Behavioural and event-related functional magnetic resonance imaging activity showed three independent effects characterized by (i) similarity between past recollection and future imagination, (ii) facilitation of judgements related to the future as compared with the past, and (iii) facilitation of judgements related to time-points distant from the present. These effects were found with respect to faces and events, and also suggest that brain mechanisms of MT are independent of whether actual life episodes have to be re-experienced or pre-experienced, recruiting a common cerebral network including the anteromedial temporal, posterior parietal, inferior frontal, temporo-parietal and insular cortices. These behavioural and neural data suggest that self-projection in time is a fundamental aspect of MT, relying on neural structures encoding memory, mental imagery and self.

Use of Remote Sensing for Collection of Data Elements for Linear Referencing Systems, 2001

This report evaluates the use of remotely sensed images in implementing the Iowa DOT LRS that is currently in the stages of system architecture. The Iowa Department of Transportation is investing a significant amount of time and resources into creation of a linear referencing system (LRS). A significant portion of the effort in implementing the system will be creation of a datum, which includes geographically locating anchor points and then measuring anchor section distances between those anchor points. Currently, system architecture and evaluation of different data collection methods to establish the LRS datum is being performed for the DOT by an outside consulting team.

Domestic architecture and social differences in North-Eastern Iberia during the iron age (c.525-200 BC)

This paper is concerned with the organization of societies in north-eastern Iberia (present-day Catalonia) during the Iron Age, using data provided by domestic architecture and settlement organization. I offer an analysis of the social differences detected in the dwellings based on a sample of houses excavated at different types of settlement. Although many Iberian houses had simple layouts and small surface areas, some larger dwellings at the main sites are distinguished by the shape of their ground plans, their surface areas, architectural features, and central locations; these houses are believed to be the residences of the Iberian elite. Such dwellings are not found at all sites and the data suggest that there was a relationship between the category of the settlement (or its function) and the types of dwelling in it.

Medical record search engines, using pseudonymised patient identity: an alternative to centralised medical records

Purpose The purpose of our multidisciplinary study was to define a pragmatic and secure alternative to the creation of a national centralised medical record which could gather together the different parts of the medical record of a patient scattered in the different hospitals where he was hospitalised without any risk of breaching confidentiality. Methods We first analyse the reasons for the failure and the dangers of centralisation (i.e. difficulty to define a European patients' identifier, to reach a common standard for the contents of the medical record, for data protection) and then propose an alternative that uses the existing available data on the basis that setting up a safe though imperfect system could be better than continuing a quest for a mythical perfect information system that we have still not found after a search that has lasted two decades. Results We describe the functioning of Medical Record Search Engines (MRSEs), using pseudonymisation of patients' identity. The MRSE will be able to retrieve and to provide upon an MD's request all the available information concerning a patient who has been hospitalised in different hospitals without ever having access to the patient's identity. The drawback of this system is that the medical practitioner then has to read all of the information and to create his own synthesis and eventually to reject extra data. Conclusions Faced with the difficulties and the risks of setting up a centralised medical record system, a system that gathers all of the available information concerning a patient could be of great interest. This low-cost pragmatic alternative which could be developed quickly should be taken into consideration by health authorities.

Information architecture for the semantic web

L'objectiu és desenvolupar i avaluar una sèrie de components de l'arquitectura de la informació per a la web semàntica. Aquest components són genèrics i permeten als usuaris explorar conjunts de dades semàntiques sense necessitat de conèixer l'estructura ni tenir coneixements tècnics. S'ha desenvolupat seguint una metodologia de disseny centrat en l'usuari

A design for an advanced architecture of satellite ground segments

This project proposes a preliminary architectural design for a control and data processing center, also known as 'ground segment', for Earth observation satellites.

Collecting Transaction Data in a Fourth Generation Mobile Network

Tässä diplomityössä on oletettu että neljännen sukupolven mobiiliverkko on saumaton yhdistelmä olemassa olevia toisen ja kolmannen sukupolven langattomia verkkoja sekä lyhyen kantaman WLAN- ja Bluetooth-radiotekniikoita. Näiden tekniikoiden on myös oletettu olevan niin yhteensopivia ettei käyttäjä havaitse saanti verkon muuttumista. Työ esittelee neljännen sukupolven mobiiliverkkoihin liittyvien tärkeimpien langattomien tekniikoiden arkkitehtuurin ja perustoiminta-periaatteet. Työ kuvaa eri tekniikoita ja käytäntöjä tiedon mittaamiseen ja keräämiseen. Saatuja transaktiomittauksia voidaan käyttää tarjottaessa erilaistettuja palvelutasoja sekä verkko- ja palvelukapasiteetin optimoimisessa. Lisäksi työssä esitellään Internet Business Information Manager joka on ohjelmistokehys hajautetun tiedon keräämiseen. Sen keräämää mittaustietoa voidaan käyttää palvelun tason seurannassa j a raportoinnissa sekä laskutuksessa. Työn käytännön osuudessa piti kehittää langattoman verkon liikennettä seuraava agentti joka tarkkailisi palvelun laatua. Agentti sijaitsisi matkapuhelimessa mitaten verkon liikennettä. Agenttia ei kuitenkaan voitu toteuttaa koska ohjelmistoympäristö todettiin vajaaksi. Joka tapauksessa työ osoitti että käyttäjän näkökulmasta tietoa kerääville agenteille on todellinen tarve.