Miracle-dz/UniFAR-FTUs huggingface dataset:
Creatine Transporter Defect Diagnosed by Proton NMR Spectroscopy in Males With Intellectual Disability

Creatine deficiency syndrome due to mutations in X‐linked SLC6A8 gene results in nonspecific intellectual disability (ID). Diagnosis cannot be established on clinical grounds and is often based on the assessment of brain creatine levels by magnetic resonance spectroscopy (MRS). Considering high costs of MRS and necessity of sedation, this technique cannot be used as a first level‐screening test. Likewise, gene test analysis is time consuming and not easily accessible to all laboratories. In this article feasibility of urine analysis (creatine/creatinine (Cr/Crn) ratio) performed by nuclear magnetic resonance (NMR) as a first level‐screening test is explored. Before running a systematic selection of cases a preliminary study for further molecular analysis is shown. NMR urine spectra (n = 1,347) of male patients with an ID without a clinically recognizable syndrome were measured. On the basis of abnormal Cr/Crn ratio, three patients with the highest values were selected for molecular analysis. A confirmatory second urine test was positive in two patients and diagnosis was further confirmed by a decreased brain creatine level and by SLC6A8 gene analysis. A de novo mutation was identified in one. Another patient inherited a novel mutation from the mother who also has a mild ID. A repeat urine test was negative in the third patient and accordingly creatine level in the brain and SLC6A8 gene analysis both gave a normal result. We conclude that Cr/Crn ratio measured by NMR for male patients represents a rapid and useful first level screening test preceding molecular analysis. © 2011 Wiley‐Liss, Inc.
Structured Combination of Particle Filter and Kernel Mean Shift Tracking

Particle filters are a powerful and widely used visual tracking technology. Their strength lies in their ability to represent multi-modal probability distributions that capture and maintain multiple hypotheses about target properties. A potential weakness, however, is that the particle set can become diffused, dispersing across the image plane rather than clustering around the target. A number of solutions to this problem have been proposed, including the use of the more recently developed Kernel Mean Shift tracker to guide particles towards a local mode. While this hybrid Condensation/Mean Shift tracker is effective, in most cases the Condensation component is an unnecessary overhead: Kernel Mean Shift is a competent tracker that only needs the particle filter to deal with more ambiguous situations in which errors might be made. We therefore propose an alternative hybrid approach in which Kernel Mean Shift is the dominant tracking technology, with a small number of particles being generated, in a structured fashion, to explore further and so resist errors when confidence in the Mean Shift algorithm is low. The proposed algorithm, which we term the Structured Octal Kernel (SOK) filter, has been implemented and is compared with Condensation, Kernel Mean Shift and Hybrid trackers. The SOK filter provides the most robust results, with comparable accuracy, at the lowest computational cost.
Analysis of Genetic Variability and Whole Genome Linkage of Whole-Brain, Subcortical, and Ependymal Hyperintense White Matter Volume

Background and Purpose— The cerebral volume of T2-hyperintense white matter (HWM) is an important neuroimaging marker of cerebral integrity. Pathophysiology studies identified that subcortical and ependymal HWM are produced by 2 different mechanisms but shared a common risk factor: high arterial pulse pressure. Recent studies have demonstrated high heritability of the whole-brain HMW volume and reported significant and suggestive evidence of genetic linkage. We performed heritability and whole-genome linkage analysis to replicate previous reported findings and to study shared genetic variance, and possible overlap for specific loci, between subcortical and ependymal HWM volumes in a population of healthy Mexican Americans. Methods— The volumes of subcortical and ependymal HWM regions were measured from high-resolution (1 mm3), 3-dimensional fluid-attenuated inversion recovery images acquired for 459 (283 females, 176 males) active participants in the San Antonio Family Heart Study. Subjects ranged in age from 19 to 85 years of age (47.9±13.5 years) and were part of 49 families (9.4±8.5 individuals per family). Results— The volumes of whole-brain, subcortical, and ependymal HWM were highly heritable (h2=0.72, 0.66, and 0.73, respectively). The subcortical and ependymal HWM volumes shared 21% of genetic variability indicating significant pleiotropy. Genomewide linkage analysis showed only a suggestive bivariate linkage for subcortical and ependymal HWM volumes (log of odds=2.12) on chromosome 1 at 288 cM. Conclusion— We replicated previous findings of high heritability for the whole-brain HWM volume. We also showed that subcortical and ependymal volume shared a significant portion of genetic variability and the bivarate linkage analysis produced a suggestive linkage near the locus previously identified in a study of whole-brain HWM volume and arterial pulse pressure.
Just a question of time? The composition and evolution of immigrants’ personal networks in Catalonia

This article analyses the composition and evolution of migrants’ personal networks during their settlement process. Migration studies have emphasized the relational dimension of the migration process, but the topic has rarely been analysed systematically using social network analysis. Based on ego-network analysis and interviews with Ecuadorian and Moroccan immigrants in Catalonia, this article shows the diversity of configurations of migrants’ personal networks and their evolution: over the years only some migrants break their ties with the society of origin and substitute them with contacts with locals; others maintain or increase transnational ties; and yet others create co-ethnic ties in the host country. This diversity is explained in the article by examining migrant characteristics and circumstances prior to migration, such as the details of their migration projects and the features of their pre-migratory contacts. The results show that the interaction of gender with the organization of the migration process seems to have a strong impact on the evolution of these networks. At a methodological level, social network analysis proves to be a fruitful strategy for analysing the diverse incorporation of migrants into the host society.
Early lexical development in English- and Korean-speaking children: language-general and language-specific patterns

The present study examined the composition of the early productive vocabulary of eight Korean- and eight English-learning children and the morpho-syntactic, semantic, and pragmatic characteristics of their caregivers' input in order to determine parallels between caregiver input and early lexical development. Vocabulary acquisition was followed using maternal diary and checklists for the Korean-learning children (from a mean age of 1;6 to 1;9) and for the English-learning children (from a mean age of 1;4 to 1;8). Results showed that both Korean- learning and English-learning children acquired significantly more nouns than verbs at the 50-word mark. However, Korean children learned significantly more verbs than did English-learning children. The relative ease with which Korean learners, as compared to English learners, acquired verbs parallels several differences in the linguistic and socio-pragmatic characteristics of the input addressed to them. Korean- speaking caregivers presented more activity-oriented utterances, more verbs, and more salient cues to verbs than did English-speaking caregivers. These data suggest that both general and language-specific factors shape the early lexicon.
Optimizing walking controllers

This paper describes a method for optimizing the parameters of a physics-based controller for full-body, 3D walking. A modified version of the SIMBICON controller [Yin et al. 2007] is optimized for characters of varying body shape, walking speed and step length. The objective function includes terms for power minimization, angular momentum minimization, and minimal head motion, among others. Together these terms produce a number of important features of natural walking, including active toe-off, near-passive knee swing, and leg extension during swing. We explain the specific form of our objective criteria, and show the importance of each term to walking style. We demonstrate optimized controllers for walking with different speeds, variation in body shape, and in ground slope.
Providing security using IKEv2 in a vehicular network based on WiMAX technology

This paper describes how mobility and security services are provided together in a vehicular scenario based on WiMAX technology. MIPv6 and IKEv2 protocols have been chosen for this purpose, in particular the “Mip6d” and “OpenIKEv2” implementations respectively. But this cooperation is performed in a different way as usual, because they also implement an access control mechanism for visited networks. This mechanism is based on the EAP protocol, that let us change the authentication method and test their different behaviours in a mobility scenario. “OpenIKEv2” has been developed in the University of Murcia. For this reason, all changes preformed in order to interoperate with “Mip6d” have been performed in our IKEv2 implementation.
Sequencing and Characterisation of an Extensive Atlantic Salmon (Salmo salar L.) MicroRNA Repertoire

Atlantic salmon (Salmo salar L.), a member of the family Salmonidae, is a totemic species of ecological and cultural significance that is also economically important in terms of both sports fisheries and aquaculture. These factors have promoted the continuous development of genomic resources for this species, furthering both fundamental and applied research. MicroRNAs (miRNA) are small endogenous non-coding RNA molecules that control spatial and temporal expression of targeted genes through post-transcriptional regulation. While miRNA have been characterised in detail for many other species, this is not yet the case for Atlantic salmon. To identify miRNAs from Atlantic salmon, we constructed whole fish miRNA libraries for 18 individual juveniles (fry, four months post hatch) and characterised them by Illumina high-throughput sequencing (total of 354,505,167 paired-ended reads). We report an extensive and partly novel repertoire of miRNA sequences, comprising 888 miRNA genes (547 unique mature miRNA sequences), quantify their expression levels in basal conditions, examine their homology to miRNAs from other species and identify their predicted target genes. We also identify the location and putative copy number of the miRNA genes in the draft Atlantic salmon reference genome sequence. The Atlantic salmon miRNAs experimentally identified in this study provide a robust large-scale resource for functional genome research in salmonids. There is an opportunity to explore the evolution of salmonid miRNAs following the relatively recent whole genome duplication event in salmonid species and to investigate the role of miRNAs in the regulation of gene expression in particular their contribution to variation in economically and ecologically important traits.
PERSONALIZATION , COLLABORATION , AND RECOMMENDATION IN THE DIGITAL LIBRARY ENVIRONMENT CYCLADES

CYCLADES is a system, which combines several technologies from the Information Retrieval and Digital Library area, where users and user communities may deal with a quite large set of heterogeneous digital archives. CYCLADES provides a highly personalized environment where not only users may organize (and search into) the information space according to their individual taste and use, but, and more importantly, also provides advanced features of collaborative work among the users. It is up then to the system to discover interesting properties about the users' interests, relationship between users and user communities, as well as meaningful events that happen in user shared workspaces, and finally to notify the involved users according to their own preferences.
Automatic PET-CT Image Registration Method Based on Mutual Information and Genetic Algorithms

Hybrid PET/CT scanners can simultaneously visualize coronary artery disease as revealed by computed tomography (CT) and myocardial perfusion as measured by positron emission tomography (PET). Manual registration is usually required in clinical practice to compensate spatial mismatch between datasets. In this paper, we present a registration algorithm that is able to automatically align PET/CT cardiac images. The algorithm bases on mutual information (MI) as registration metric and on genetic algorithm as optimization method. A multiresolution approach was used to optimize the processing time. The algorithm was tested on computerized models of volumetric PET/CT cardiac data and on real PET/CT datasets. The proposed automatic registration algorithm smoothes the pattern of the MI and allows it to reach the global maximum of the similarity function. The implemented method also allows the definition of the correct spatial transformation that matches both synthetic and real PET and CT volumetric datasets.
User perceived quality of online social information services: from the perspective of knowledge management

Features of online social information services show promises for overcoming obstacles in current knowledge management practices. This paper first discussed the potential efficacy and emerging practices of such technologies in the domain of knowledge management. Then a quality model of online social information systems was derived from prior literature on online information service quality and analyses of characteristics of emerging technologies. An online questionnaire was developed and administrated to 168 users. Four quality dimensions that are perceived as important by users were identified by factor analysis and proved to be reliable: system usability, content quality, content exchangeability and accessibility, and sociability. The findings of this research provide implications for developers of both enterprise knowledge management systems and public social Websites, and can facilitate future development of the instrument measuring the quality of online social service from other perspectives.
Using X 11 Windows To Provide Shared Task Memory in Distributed Computer Systems

An X11 based shared memory system, permitting the implementation of a distributed water network monitoring and control software suite, is described in this paper. The application source code is in FORTRAN and accesses shared memory via a C library module requiring no other support packages. X11 based distributed mutual exclusion algorithms, based on the unconventional use of Lamport's bakery algorithm, are evaluated. The system is compared with other methods of providing distributed shared memory. 2. Introduction The distributed shared memory system described here was developed to facilitate the transfer of software for real time water network monitoring and control, from a single CPU to a distributed computing environment. Because of inherent parallelism, the original application was implemented as a set of concurrent tasks requiring shared memory resources [2]. When such tasks reside on a common CPU, shared memory can be provided by either memory control logic or software. This permits the solution of parallelism either by splitting the load between parallel, concurrent, modules, held within a single task, or by concurrent tasks running under a concurrent operating system. But this approach, which simplifies both program maintenance and the operation of complex algorithms, is limited by the power of a computer's CPU. Increasing the processing power available means using more than one CPU, ideally one per task. This also has the advantage of permitting individual tasks to execute on more suitable host architectures (giving mathematical tasks access to high performance floating point processors, graphics tasks access to graphics workstations, etc), or on hosts more suited to the user's needs. Argile 2 The X11 graphics and networking package can be used to provide distributed shared memory [3], together with all required memory access operations-lock, free, read shared area(s) to local memory(s), and save local area(s) to shared area(s)-in both access blocking and non-blocking forms. Unlike operating systems targeted at single processors, an X11 based shared memory system permits shared memory to be accessed over a distributed network. An X11 based access protocol prevents simultaneous access (via mutual exclusion) of the data area(s). X11 is a flexible operating environment-by using the terminal windows generated by the xterm application tool, a single terminal can run and simultaneously display many interactive applications, either together or with their I/O routed to alternative terminals. Thus an entire application suite can be initially developed and tested on a single CPU. An X11 based shared memory system can be …
A New Scheme for Cooperative Communication in LEACH Based Wireless Sensor Network

Wireless Sensor Networks need energy efficient protocol for carrying out various operations. Cooperation among nodes may save significant energy by avoiding retransmission from distant nodes. In this work, a new scheme has been suggested for LEACH based WSN by introducing cooperation among various cluster heads. Significant improvement in BER has been observed for comparable overall lifetime of ordinary WSN. Cooperative communication with punctured convolutional channel coding is used in operation phase where as point to point transmission technique is used in clustering phase. Rayleigh fading channel and additional energy consumption due to retransmissions by relay nodes has been accounted in simulation. Bit error rate (BER) and overall life time of WSN is found to be dependent on the number of cooperative nodes, sensor nodes density in WSN, etc factors.
Joint semantic segmentation by searching for compatible-competitive references

This paper presents a framework for semantically segmenting a target image without tags by searching for references in an image database, where all the images are unsegmented but annotated with tags. We jointly segment the target image and its references by optimizing both semantic consistencies within individual images and correspondences between the target image and each of its references. In our framework, we first retrieve two types of references with a semantic-driven scheme: i) the compatible references which share similar global appearance with the target image; and ii) the competitive references which have distinct appearance to the target image but similar tags with one of the compatible references. The two types of references have complementary information for assisting the segmentation of the target image. Then we construct a novel graphical representation, in which the vertices are superpixels extracted from the target image and its references. The segmentation problem is posed as labeling all the vertices with the semantic tags obtained from the references. The method is able to label images without the pixel-level annotation and classifier training, and it outperforms the state-of-the-arts approaches on the MSRC-21 database.
Motion, identity and the bias toward agency

The well-documented human bias toward agency as a cause and therefore an explanation of observed events is typically attributed to evolutionary selection for a “social brain”. Based on a review of developmental and adult behavioral and neurocognitive data, it is argued that the bias toward agency is a result of the default human solution, developed during infancy, to the computational requirements of object re-identification over gaps in observation of more than a few seconds. If this model is correct, overriding the bias toward agency to construct mechanistic explanations of observed events requires structure-mapping inferences, implemented by the pre-motor action planning system, that replace agents with mechanisms as causes of unobserved changes in contextual or featural properties of objects. Experiments that would test this model are discussed.
SMART : High Performance Internet Server for High Definition Streaming Service

In the current life, the Internet is playing a key role in transferring diverse information. As the performance of the Internet has been growing, transferred information has the form of multimedia streams such as video and audio. However, in current computing and internet environment, multimedia streaming service can't be accomplished smoothly due to the various factors such as internet bandwidth, computing power and so on. In this paper, we are proposing an efficient system, called SMART (Server for Multimedia Applications for Residence community) including hardware and software in terms of the design concept and system architecture for the multimedia streaming service. We also present the implementation result for the system.
Imaging the Fine Structure of a Magnetic Domain Wall in a Ni Nanocylinder

We present the first experimental imaging of the internal DW structure in 55 and 85 nm diameter Ni nanocylinders, using electron holography combined with micromagnetic calculations. We demonstrate the magnetic transition from a hybrid magnetic state with both vortex and transverse DW in 85 nm diameter Ni nanocylinders to a pure transverse wall in thinner nanowires. This is particularly important as DWs in nanocylinders are model systems to go beyond the classical Walker limit.
Concurrent Fault Detection for Secure QDI Asynchronous Circuits

Asynchronous micropipelined designs are self-checking against permanent stuck-at faults making the circuits highly resistant against invasive fault attacks. A single transient fault, however, can result in a data token insertion or deletion which can cause a continuous stream of erroneous outputs that can be exploited by a malicious attacker. We propose a system level error detection method targeted for detection of faults that cause data token insertions and deletions. The method is based on minimum distance robust error detecting codes and exploits the repeating errors in linear networks to improve the error detection performance.
Modelling the long term effect of changes in fire frequency on the total area burnt

Wildfires are one of the major problems in Mediterranean countries, and much effort is done by the governments to dissuade people from starting fires. Public campaigns often promote the idea that the more ignitions the larger the surface burnt will be. This reasoning is, however, not so straightforward. This paper addresses the question of how fire frequency relates to the total area burnt by using a model of fire regime that includes variables such as the number of ignitions, fire fighting capacity, fuel accumulation rates, existence of prescribed burning and meteorological variability. This question was addressed by performing three experimental simulations: effect of the number of potential ignitions, the combined effect of the number of ignitions and extinction capacity, and the non random spatial pattern of fire ignitions. Results showed that a larger number ignitions did not have a great effect on the total area burnt but had an effect in the occurrence of large fires, independently of the extinction capacity and of the spatial distribution of ignitions. An explanation for these findings is provided and management implications of these results are briefly discussed.