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Showing papers by "Pompeu Fabra University published in 2009"


Journal ArticleDOI
24 Apr 2009-Science
TL;DR: To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage and provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.
Abstract: To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.

1,144 citations


Journal ArticleDOI
TL;DR: A number of 'dead ends' and 'fruitful avenues' are suggested for future research into ecological networks by suggesting a new catalogue of evermore complete, taxonomically resolved, and quantitative data.
Abstract: Summary 1. A fundamental goal of ecological network research is to understand how the complexity observed in nature can persist and how this affects ecosystem functioning. This is essential for us to be able to predict, and eventually mitigate, the consequences of increasing environmental perturbations such as habitat loss, climate change, and invasions of exotic species. 2. Ecological networks can be subdivided into three broad types: ‘traditional’ food webs, mutualistic networks and host‐parasitoid networks. There is a recent trend towards cross-comparisons among network types and also to take a more mechanistic, as opposed to phenomenological, perspective. For example, analysis of network configurations, such as compartments, allows us to explore the role of co-evolution in structuring mutualistic networks and host‐parasitoid networks, and of body size in food webs. 3. Research into ecological networks has recently undergone a renaissance, leading to the production of a new catalogue of evermore complete, taxonomically resolved, and quantitative data. Novel topological patterns have been unearthed and it is increasingly evident that it is the distribution of interaction strengths and the configuration of complexity, rather than just its magnitude, that governs network stability and structure. 4. Another significant advance is the growing recognition of the importance of individual traits and behaviour: interactions, after all, occur between individuals. The new generation of high-quality networks is now enabling us to move away from describing networks based on species-averaged data and to start exploring patterns based on individuals. Such refinements will enable us to address more general ecological questions relating to foraging theory and the recent metabolic theory of ecology. 5. We conclude by suggesting a number of ‘dead ends’ and ‘fruitful avenues’ for future research into ecological networks.

867 citations


Journal ArticleDOI
TL;DR: In numerical simulation, the dynamics of a simplified cortical network using 38 noise-driven (Wilson–Cowan) oscillators, which in isolation remain just below their oscillatory threshold are studied, indicating the presence of stochastic resonance and high sensitivity to changes in diffuse feedback activity.
Abstract: A growing body of neuroimaging research has documented that, in the absence of an explicit task, the brain shows temporally coherent activity. This so-called “resting state” activity or, more explicitly, the default-mode network, has been associated with daydreaming, free association, stream of consciousness, or inner rehearsal in humans, but similar patterns have also been found under anesthesia and in monkeys. Spatiotemporal activity patterns in the default-mode network are both complex and consistent, which raises the question whether they are the expression of an interesting cognitive architecture or the consequence of intrinsic network constraints. In numerical simulation, we studied the dynamics of a simplified cortical network using 38 noise-driven (Wilson–Cowan) oscillators, which in isolation remain just below their oscillatory threshold. Time delay coupling based on lengths and strengths of primate corticocortical pathways leads to the emergence of 2 sets of 40-Hz oscillators. The sets showed synchronization that was anticorrelated at <0.1 Hz across the sets in line with a wide range of recent experimental observations. Systematic variation of conduction velocity, coupling strength, and noise level indicate a high sensitivity of emerging synchrony as well as simulated blood flow blood oxygen level-dependent (BOLD) on the underlying parameter values. Optimal sensitivity was observed around conduction velocities of 1–2 m/s, with very weak coupling between oscillators. An additional finding was that the optimal noise level had a characteristic scale, indicating the presence of stochastic resonance, which allows the network dynamics to respond with high sensitivity to changes in diffuse feedback activity.

745 citations


Journal ArticleDOI
TL;DR: The results reveal that when the task at hand recruits a good deal of monitoring resources, bilinguals outperform monolinguals and suggests that bilingualism may affect the monitoring processes involved in executive control.

674 citations


Journal ArticleDOI
TL;DR: In this article, the authors question the validity of approaches for model evaluation based on overall goodness-of-fit indexes, arguing that they do not provide an adequate indication of the "size" of the model's misspecification.
Abstract: Assessing the correctness of a structural equation model is essential to avoid drawing incorrect conclusions from empirical research. In the past, the chi-square test was recommended for assessing the correctness of the model but this test has been criticized because of its sensitivity to sample size. As a reaction, an abundance of fit indexes have been developed. The result of these developments is that structural equation modeling packages are now producing a large list of fit measures. One would think that this progression has led to a clear understanding of evaluating models with respect to model misspecifications. In this article we question the validity of approaches for model evaluation based on overall goodness-of-fit indexes. The argument against such usage is that they do not provide an adequate indication of the “size” of the model's misspecification. That is, they vary dramatically with the values of incidental parameters that are unrelated with the misspecification in the model. This is illus...

544 citations


Journal ArticleDOI
TL;DR: LCE expression can be induced in normal epidermis by skin barrier disruption and is strongly expressed in psoriatic lesions, suggesting that compromised skin barrier function has a role in psoriasis susceptibility.
Abstract: Psoriasis is a common inflammatory skin disease with a prevalence of 2-3% in individuals of European ancestry. In a genome-wide search for copy number variants (CNV) using a sample pooling approach, we have identified a deletion comprising LCE3B and LCE3C, members of the late cornified envelope (LCE) gene cluster. The absence of LCE3B and LCE3C (LCE3C_LCE3B-del) is significantly associated (P = 1.38E-08) with risk of psoriasis in 2,831 samples from Spain, The Netherlands, Italy and the United States, and in a family-based study (P = 5.4E-04). LCE3C_LCE3B-del is tagged by rs4112788 (r(2) = 0.93), which is also strongly associated with psoriasis (P < 6.6E-09). LCE3C_LCE3B-del shows epistatic effects with the HLA-Cw6 allele on the development of psoriasis in Dutch samples and multiplicative effects in the other samples. LCE expression can be induced in normal epidermis by skin barrier disruption and is strongly expressed in psoriatic lesions, suggesting that compromised skin barrier function has a role in psoriasis susceptibility.

514 citations


Journal ArticleDOI
17 Jul 2009-Science
TL;DR: Targeted sequencing improves Neandertal mitochondrial DNA retrieval and reveals low diversity among individuals, and together with analyses of mtDNA protein evolution, these data suggest that the long-term effective population size of Ne andertals was smaller than that of modern humans and extant great apes.
Abstract: Analysis of Neandertal DNA holds great potential for investigating the population history of this group of hominins, but progress has been limited due to the rarity of samples and damaged state of the DNA. We present a method of targeted ancient DNA sequence retrieval that greatly reduces sample destruction and sequencing demands and use this method to reconstruct the complete mitochondrial DNA (mtDNA) genomes of five Neandertals from across their geographic range. We find that mtDNA genetic diversity in Neandertals that lived 38,000 to 70,000 years ago was approximately one-third of that in contemporary modern humans. Together with analyses of mtDNA protein evolution, these data suggest that the long-term effective population size of Neandertals was smaller than that of modern humans and extant great apes.

490 citations


Journal ArticleDOI
27 Nov 2009-Science
TL;DR: Three papers provide a comprehensive and quantitative analysis of the proteome, the metabolic network, and the transcriptome of M. pneumoniae to reveal that this “simple” organism makes extensive use of noncoding RNAs and has exon- and intron-like structure within transcriptional operons that allows complex gene regulation resembling that of eukaryotes.
Abstract: The genome of Mycoplasma pneumoniae is among the smallest found in self-replicating organisms. To study the basic principles of bacterial proteome organization, we used tandem affinity purification-mass spectrometry (TAP-MS) in a proteome-wide screen. The analysis revealed 62 homomultimeric and 116 heteromultimeric soluble protein complexes, of which the majority are novel. About a third of the heteromultimeric complexes show higher levels of proteome organization, including assembly into larger, multiprotein complex entities, suggesting sequential steps in biological processes, and extensive sharing of components, implying protein multifunctionality. Incorporation of structural models for 484 proteins, single-particle electron microscopy, and cellular electron tomograms provided supporting structural details for this proteome organization. The data set provides a blueprint of the minimal cellular machinery required for life.

443 citations


Journal ArticleDOI
TL;DR: Analysis of high-throughput data implies a relationship between nucleosome positioning and exon definition and provides a framework that contributes to the understanding of splicing on the basis of chromatin architecture.
Abstract: Chromatin structure influences transcription, but its role in subsequent RNA processing is unclear. Here we present analyses of high-throughput data that imply a relationship between nucleosome positioning and exon definition. First, we have found stable nucleosome occupancy within human and Caenorhabditis elegans exons that is stronger in exons with weak splice sites. Conversely, we have found that pseudoexons--intronic sequences that are not included in mRNAs but are flanked by strong splice sites--show nucleosome depletion. Second, the ratio between nucleosome occupancy within and upstream from the exons correlates with exon-inclusion levels. Third, nucleosomes are positioned central to exons rather than proximal to splice sites. These exonic nucleosomal patterns are also observed in non-expressed genes, suggesting that nucleosome marking of exons exists in the absence of transcription. Our analysis provides a framework that contributes to the understanding of splicing on the basis of chromatin architecture.

438 citations


Journal ArticleDOI
27 Nov 2009-Science
TL;DR: Three papers provide a comprehensive and quantitative analysis of the proteome, the metabolic network, and the transcriptome of M. pneumoniae, a “simple” organism that makes extensive use of noncoding RNAs and has exon- and intron-like structure within transcriptional operons that allows complex gene regulation resembling that of eukaryotes.
Abstract: To study basic principles of transcriptome organization in bacteria, we analyzed one of the smallest self-replicating organisms, Mycoplasma pneumoniae. We combined strand-specific tiling arrays, complemented by transcriptome sequencing, with more than 252 spotted arrays. We detected 117 previously undescribed, mostly noncoding transcripts, 89 of them in antisense configuration to known genes. We identified 341 operons, of which 139 are polycistronic; almost half of the latter show decaying expression in a staircase-like manner. Under various conditions, operons could be divided into 447 smaller transcriptional units, resulting in many alternative transcripts. Frequent antisense transcripts, alternative transcripts, and multiple regulators per gene imply a highly dynamic transcriptome, more similar to that of eukaryotes than previously thought.

426 citations


Book
22 Jan 2009
TL;DR: The Iraq debate in British parliament as discussed by the authors was a seminal moment in the history of the UK's political debate on the Iraq war. But it was not a watershed moment in British political life.
Abstract: 1. Introduction 2. Context and social cognition 3. Context and society 4. Context and culture 5. Context and politics: the Iraq debate in British parliament 6. Conclusions.

Journal ArticleDOI
TL;DR: This article found that countries with higher initial education levels experienced faster value-added and employment growth in schooling-intensive industries in the 1980s and 1990s, consistent with schooling fostering the adoption of new technologies if such technologies are skilled-labor augmenting.
Abstract: We document that countries with higher initial education levels experienced faster value-added and employment growth in schooling-intensive industries in the 1980s and 1990s. This effect is robust to controls for other determinants of international specialization and becomes stronger when we focus on economies open to international trade. Our finding is consistent with schooling fostering the adoption of new technologies if such technologies are skilled-labor augmenting, as was the case in the 1980s and the 1990s. In line with international specialization theory, we also find that countries where education levels increased rapidly experienced stronger shifts in production toward schooling-intensive industries.

Journal ArticleDOI
TL;DR: A standardized evaluation methodology and reference database for the quantitative evaluation of coronary artery centerline extraction algorithms and a database containing 32 cardiac CTA datasets with corresponding reference standard is described and made available.

Journal ArticleDOI
TL;DR: The clinico-pathological features and outcomes of the patients with cyclin D1-negative mantle cell lymphoma identified by SOX11 expression were similar to those of patients with conventional mantlecell lymphoma.
Abstract: Background Cyclin D1-negative mantle cell lymphoma is difficult to distinguish from other small B-cell lymphomas. The clinical and pathological characteristics of patients with this form of lymphoma have not been well defined. Overexpression of the transcription factor SOX11 has been observed in conventional mantle cell lymphoma. The aim of this study was to determine whether this gene is expressed in cyclin D1-negative mantle cell lymphoma and whether its detection may be useful to identify these tumors.Design and Methods The microarray database of 238 mature B-cell neoplasms was re-examined. SOX11 protein expression was investigated immunohistochemically in 12 cases of cyclin D1-negative mantle cell lymphoma, 54 cases of conventional mantle cell lymphoma, and 209 additional lymphoid neoplasms.Results SOX11 mRNA was highly expressed in conventional and cyclin D1-negative mantle cell lymphoma and in 33% of the cases of Burkitt’s lymphoma but not in any other mature lymphoid neoplasm. SOX11 nuclear protein was detected in 50 cases (93%) of conventional mantle cell lymphoma and also in the 12 cyclin D1-negative cases of mantle cell lymphoma, the six cases of lymphoblastic lymphomas, in two of eight cases of Burkitt’s lymphoma, and in two of three T-prolymphocytic leukemias but was negative in the remaining lymphoid neoplasms. Cyclin D2 and D3 mRNA levels were significantly higher in cyclin D1-negative mantle cell lymphoma than in conventional mantle cell lymphoma but the protein expression was not discriminative. The clinico-pathological features and outcomes of the patients with cyclin D1-negative mantle cell lymphoma identified by SOX11 expression were similar to those of patients with conventional mantle cell lymphoma.Conclusions SOX11 mRNA and nuclear protein expression is a highly specific marker for both cyclin D1-positive and negative mantle cell lymphoma.

Journal ArticleDOI
TL;DR: It is found that THC long-term memory deficits were mediated by CB1Rs expressed on GABAergic interneurons through a glutamatergic mechanism, as both the amnesic-like effects and p70S6K phosphorylation were reduced in GABA-CB1R knockout mice and by NMDA blockade.
Abstract: Cognitive impairment is one of the most important negative consequences associated with cannabis consumption. We found that CB1 cannabinoid receptor (CB1R) activation transiently modulated the mammalian target of rapamycin (mTOR)/p70S6K pathway and the protein synthesis machinery in the mouse hippocampus, which correlated with the amnesic properties of delta9-tetrahydrocannabinol (THC). In addition, non-amnesic doses of either the mTOR blocker rapamycin or the protein synthesis inhibitor anisomycin abrogated the amnesic-like effects of THC, pointing to a mechanism involving new protein synthesis. Moreover, using pharmacological and genetic tools, we found that THC long-term memory deficits were mediated by CB1Rs expressed on GABAergic interneurons through a glutamatergic mechanism, as both the amnesic-like effects and p70S6K phosphorylation were reduced in GABA-CB1R knockout mice and by NMDA blockade.

Journal ArticleDOI
TL;DR: The data show that high-level reasoning and a measure of strategic IQ (related to winning in the game) correlate with the neural activity in the medial prefrontal cortex, demonstrating its crucial role in successful mentalizing and supports a cognitive hierarchy model of human brain and behavior.
Abstract: We used functional MRI (fMRI) to investigate human mental processes in a competitive interactive setting--the "beauty contest" game. This game is well-suited for investigating whether and how a player's mental processing incorporates the thinking process of others in strategic reasoning. We apply a cognitive hierarchy model to classify subject's choices in the experimental game according to the degree of strategic reasoning so that we can identify the neural substrates of different levels of strategizing. According to this model, high-level reasoners expect the others to behave strategically, whereas low-level reasoners choose based on the expectation that others will choose randomly. The data show that high-level reasoning and a measure of strategic IQ (related to winning in the game) correlate with the neural activity in the medial prefrontal cortex, demonstrating its crucial role in successful mentalizing. This supports a cognitive hierarchy model of human brain and behavior.

ReportDOI
TL;DR: In this paper, a new dataset on migration flows and stocks and on immigration laws for 14 OECD destination countries and 74 sending countries for each year over the period 1980-2005 is presented, showing that bilateral migration flows are increasing in the income per capita gap between origin and destination.
Abstract: This paper contains three important contributions to the literature on international migrations. First, it compiles a new dataset on migration flows (and stocks) and on immigration laws for 14 OECD destination countries and 74 sending countries for each year over the period 1980-2005. Second, it extends the empirical model of migration choice across multiple destinations, developed by Grogger and Hanson (2008), by allowing for unobserved individual heterogeneity between migrants and non-migrants. We use the model to derive a pseudo-gravity empirical specification of the economic and legal determinants of international migration. Our estimates clearly show that bilateral migration flows are increasing in the income per capita gap between origin and destination. We also find that bilateral flows decrease when destination countries adopt stricter immigration laws. Third, we estimate the impact of immigration flows on employment, investment and productivity in the receiving OECD countries using as instruments the ""push"" factors in the gravity equation. Specifically, we use the characteristics of the sending countries that affect migration and their changes over time, interacted with bilateral migration costs. We find that immigration increases employment, with no evidence of crowding-out of natives, and that investment responds rapidly and vigorously. The inflow of immigrants does not seem to reduce capital intensity nor total factor productivity in the short-run or in the long run. These results imply that immigration increases the total GDP of the receiving country in the short-run one-for-one, without affecting average wages and average income per person.

Journal ArticleDOI
TL;DR: It is shown that siRNAs targeting intronic or exonic sequences close to an alternative exon regulate the splicing of that exon in hepatoma and HeLa cells with siRNA antisense strands designed to enter the silencing pathway.
Abstract: When targeting promoter regions, small interfering RNAs (siRNAs) trigger a previously proposed pathway known as transcriptional gene silencing by promoting heterochromatin formation. Here we show that siRNAs targeting intronic or exonic sequences close to an alternative exon regulate the splicing of that exon. The effect occurred in hepatoma and HeLa cells with siRNA antisense strands designed to enter the silencing pathway, suggesting hybridization with nascent pre-mRNA. Unexpectedly, in HeLa cells the sense strands were also effective, suggesting that an endogenous antisense transcript, detectable in HeLa but not in hepatoma cells, acts as a target. The effect depends on Argonaute-1 and is counterbalanced by factors favoring chromatin opening or transcriptional elongation. The increase in heterochromatin marks (dimethylation at Lys9 and trimethylation at Lys27 of histone H3) at the target site, the need for the heterochromatin-associated protein HP1alpha and the reduction in RNA polymerase II processivity suggest a mechanism involving the kinetic coupling of transcription and alternative splicing.

Journal ArticleDOI
TL;DR: In this paper, the effect of providing relative performance feedback information on performance under piece-rate incentives was studied in a real-effort setting, where students received information that allowed them to know whether they were above (below) the class average as well as the distance from this average.
Abstract: We study the effect of providing relative performance feedback information on performance under piece-rate incentives. A natural experiment that took place in a high school offers an unusual opportunity to test this effect in a real-effort setting. For one year only, students received information that allowed them to know whether they were above (below) the class average as well as the distance from this average. We exploit a rich panel data set and find that the provision of this information led to an increase of 5% in students’ grades. Moreover, the effect was significant for the whole distribution. However, once the information was removed the effect disappeared. To rule out the concern that the effect may be driven by teachers within the school, we verify our results using national level exams (externally graded) for the same students, and the effect remains.

Journal ArticleDOI
27 Nov 2009-Science
TL;DR: This “simple” organism makes extensive use of noncoding RNAs and has exon- and intron-like structure within transcriptional operons that allows complex gene regulation resembling that of eukaryotes, and Reconstruction of a bacterial metabolic network reveals strategies for metabolic control with a genome of reduced size.
Abstract: To understand basic principles of bacterial metabolism organization and regulation, but also the impact of genome size, we systematically studied one of the smallest bacteria, Mycoplasma pneumoniae. A manually curated metabolic network of 189 reactions catalyzed by 129 enzymes allowed the design of a defined, minimal medium with 19 essential nutrients. More than 1300 growth curves were recorded in the presence of various nutrient concentrations. Measurements of biomass indicators, metabolites, and 13C-glucose experiments provided information on directionality, fluxes, and energetics; integration with transcription profiling enabled the global analysis of metabolic regulation. Compared with more complex bacteria, the M. pneumoniae metabolic network has a more linear topology and contains a higher fraction of multifunctional enzymes; general features such as metabolite concentrations, cellular energetics, adaptability, and global gene expression responses are similar, however.

Proceedings Article
11 Jul 2009
TL;DR: Experiments over several domains show that the suboptimal planning algorithms and the polynomial heuristics provide good approximations of the optimal goal set G* while scaling up as well as state-of-the-art planning algorithms
Abstract: In this work we aim to narrow the gap between plan recognition and planning by exploiting the power and generality of recent planning algorithms for recognizing the set G* of goals G that explain a sequence of observations given a domain theory After providing a crisp definition of this set, we show by means of a suitable problem transformation that a goal G belongs to G* if there is an action sequence π that is an optimal plan for both the goal G and the goal G extended with extra goals representing the observations Exploiting this result, we show how the set G* can be computed exactly and approximately by minor modifications of existing optimal and suboptimal planning algorithms, and existing polynomial heuristics Experiments over several domains show that the suboptimal planning algorithms and the polynomial heuristics provide good approximations of the optimal goal set G* while scaling up as well as state-of-the-art planning algorithms and heuristics

Journal ArticleDOI
TL;DR: An anytime algorithm to solve the coalition structure generation problem, which uses a novel representation of the search space, which partitions the space of possible solutions into sub-spaces such that it is possible to compute upper and lower bounds on the values of the best coalition structures in them.
Abstract: Coalition formation is a fundamental type of interaction that involves the creation of coherent groupings of distinct, autonomous, agents in order to efficiently achieve their individual or collective goals. Forming effective coalitions is a major research challenge in the field of multi-agent systems. Central to this endeavour is the problem of determining which of the many possible coalitions to form in order to achieve some goal. This usually requires calculating a value for every possible coalition, known as the coalition value, which indicates how beneficial that coalition would be if it was formed. Once these values are calculated, the agents usually need to find a combination of coalitions, in which every agent belongs to exactly one coalition, and by which the overall outcome of the system is maximized. However, this coalition structure generation problem is extremely challenging due to the number of possible solutions that need to be examined, which grows exponentially with the number of agents involved. To date, therefore, many algorithms have been proposed to solve this problem using different techniques -- ranging from dynamic programming, to integer programming, to stochastic search -- all of which suffer from major limitations relating to execution time, solution quality, and memory requirements. With this in mind, we develop an anytime algorithm to solve the coalition structure generation problem. Specifically, the algorithm uses a novel representation of the search space, which partitions the space of possible solutions into sub-spaces such that it is possible to compute upper and lower bounds on the values of the best coalition structures in them. These bounds are then used to identify the sub-spaces that have no potential of containing the optimal solution so that they can be pruned. The algorithm, then, searches through the remaining sub-spaces very efficiently using a branch-and-bound technique to avoid examining all the solutions within the searched subspace(s). In this setting, we prove that our algorithm enumerates all coalition structures efficiently by avoiding redundant and invalid solutions automatically. Moreover, in order to effectively test our algorithm we develop a new type of input distribution which allows us to generate more reliable benchmarks compared to the input distributions previously used in the field. Given this new distribution, we show that for 27 agents our algorithm is able to find solutions that are optimal in 0.175% of the time required by the fastest available algorithm in the literature. The algorithm is anytime, and if interrupted before it would have normally terminated, it can still provide a solution that is guaranteed to be within a bound from the optimal one. Moreover, the guarantees we provide on the quality of the solution are significantly better than those provided by the previous state of the art algorithms designed for this purpose. For example, for the worst case distribution given 25 agents, our algorithm is able to find a 90% efficient solution in around 10% of time it takes to find the optimal solution.

Journal ArticleDOI
TL;DR: The findings broaden the phenotypic spectrum associated with 15q13.3 deletions and suggest that, in some individuals, deletion of 15q 13.3 is not sufficient to cause disease.
Abstract: Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints and associated with mild to moderate mental retardation and epilepsy. To further assess the clinical implications of this novel 15q13.3 microdeletion syndrome, eighteen new probands with a deletion were molecularly and clinically characterised. In addition, we evaluated the characteristics of a family with a more proximal deletion between BP3 and BP4. Finally, four patients with a duplication in the BP3-BP4-BP5 region were included in this study to ascertain the clinical significance of duplications in this region. The 15q13.3 microdeletion in our series was associated with a highly variable intra- and inter-familial phenotype. At least eleven of the eighteen deletions identified were inherited. Moreover, seven of ten siblings from four different families also had this deletion: one had a mild developmental delay, four had only learning problems during childhood, but functioned well in daily life as adults, whereas the other two had no learning problems at all. In contrast to previous findings, seizures were not a common feature in our series (only two of seventeen living probands). Three patients with deletions had cardiac defects and deletion of the KLF13 gene, located in the critical region, may contribute to these abnormalities. The limited data from the single family with the more proximal BP3-BP4 deletion suggest this deletion may have little clinical significance. Patients with duplications of the BP3-BP4-BP5 region did not share a recognizable phenotype, but psychiatric disease was noted in two of four patients. Overall, our findings broaden the phenotypic spectrum associated with 15q13.3 deletions and suggest that, in some individuals, deletion of 15q13.3 is not sufficient to cause disease. The existence of microdeletion syndromes, associated with an unpredictable and variable phenotypic outcome, will pose the clinician with diagnostic difficulties and challenge the commonly used paradigm in the diagnostic setting that aberrations inherited from a phenotypically normal parent are usually without clinical consequences.

Proceedings ArticleDOI
20 Apr 2009
TL;DR: Based on a performance evaluation, the outcome of the methods for visual diversification of image search results closely resembles human perception of diversity, which was established in an extensive clustering experiment carried out by human assessors.
Abstract: Due to the reliance on the textual information associated with an image, image search engines on the Web lack the discriminative power to deliver visually diverse search results. The textual descriptions are key to retrieve relevant results for a given user query, but at the same time provide little information about the rich image content.In this paper we investigate three methods for visual diversification of image search results. The methods deploy lightweight clustering techniques in combination with a dynamic weighting function of the visual features, to best capture the discriminative aspects of the resulting set of images that is retrieved. A representative image is selected from each cluster, which together form a diverse result set.Based on a performance evaluation we find that the outcome of the methods closely resembles human perception of diversity, which was established in an extensive clustering experiment carried out by human assessors.

Journal ArticleDOI
TL;DR: In this paper, the effect of immigration on house prices and residential construction activity in Spain over the period 1998-2008 was investigated and it was shown that the average Spanish province received an immigrant inflow equal to 17% of the initial working-age population and that this inflow increased house prices by about 52% and was responsible for 37% of new housing units during the period.
Abstract: We estimate empirically the effect of immigration on house prices and residential construction activity in Spain over the period 1998-2008. This decade is characterized by both a spectacular housing market boom and a stunning immigration wave. We exploit the variation in immigration across Spanish provinces and construct an instrument based on the historical location patterns of immigrants by country of origin. The evidence points to a sizeable causal effect of immigration on both prices and quantities in the housing market. Between 1998 and 2008, the average Spanish province received an immigrant inflow equal to 17% of the initial working-age population. We estimate that this inflow increased house prices by about 52% and is responsible for 37% of the total construction of new housing units during the period. These figures imply that immigration can account for roughly one third of the housing boom, both in terms of prices and new construction.

Journal ArticleDOI
TL;DR: This work derives a novel reduced-complexity 4times2 STBC, and shows that it outperforms all previously known codes with certain constellations.
Abstract: We focus on full-rate, fast-decodable space-time block codes (STBCs) for 2 times 2 and 4times2 multiple-input multiple-output (MIMO) transmission. We first derive conditions and design criteria for reduced-complexity maximum-likelihood (ML) decodable 2times2 STBCs, and we apply them to two families of codes that were recently discovered. Next, we derive a novel reduced-complexity 4times2 STBC, and show that it outperforms all previously known codes with certain constellations.

Journal ArticleDOI
01 Mar 2009-Energy
TL;DR: In this paper, the current state of the art and three alternative scenarios for the future, in terms of costs, market penetration and environmental performance, are sketched and compared to these scenarios, if economic incentives are supported long enough into the next ten to twenty years, PV looks set for a rosy future and is likely to play a significant role in the future energy mix, while at the same time contributing to reduce the environmental impact of electricity supply.

Journal ArticleDOI
TL;DR: CRT response is dictated by correction of multiple independent mechanisms of which LVDYS is only one, and long-axis DYS measurements alone failed to detect 40% of responders.
Abstract: AIM: To date, most published echocardiographic methods have assessed left ventricular (LV) dyssynchrony (DYS) alone as a predictor for response to cardiac resynchronization therapy (CRT). We hypothesized that the response is instead dictated by multiple correctable factors. METHODS AND RESULTS: A total of 161 patients (66 +/- 10 years, EF 24 +/- 6%, QRS > 120 ms) were investigated pre- and post-CRT (median of 6 months). Reduction in NYHA Class >/=1 or LV reverse remodelling (end-systolic volume reduction >/= 10%) defined response. Four different pathological mechanisms were identified. Group1: LVDYS characterized by a pre-ejection septal flash (SF) (87 patients, 54%). Elimination of SF (77 of 87 patients) resulted in reverse remodelling in 100%. Group 2: short-AV delay (21 patients, 13%) resolution (19 of 21 patients) resulted in reverse remodelling in 16 of 19. Group 3: long-AV delay (16 patients, 10%) resolution (14 of 16 patients) resulted in NYHA Class reduction >/=1 in 11 with reverse remodelling in five patients. Group 4: exaggerated LV-RV interaction (15 patients, 9%) reduced post-CRT. All responded clinically with fall in pulmonary artery pressure (P = 0.003) but did not volume respond. Group 5: patients with none of the above correctable mechanisms (22 patients, 14%). None responded to CRT. CONCLUSION: CRT response is dictated by correction of multiple independent mechanisms of which LVDYS is only one. Long-axis DYS measurements alone failed to detect 40% of responders.

Journal ArticleDOI
TL;DR: In this paper, the authors proposed that satisfaction from choice is an inverted U-shaped function of the number of alternatives, and further hypothesized that differences in cognitive costs affect the relative location of the satisfaction function's peak.
Abstract: People are typically thought to be better off with more choices, yet often prefer to choose from few alternatives. By considering the perceived benefits and costs of choice, it is proposed that satisfaction from choice is an inverted U-shaped function of the number of alternatives. This proposition is verified experimentally. It is further hypothesized that differences in cognitive costs affect the relative location of the function's peak. Specifically, since—in large sets—perceptual costs of processing alternatives varying in shape are greater than for alternatives varying in color, the peak of the satisfaction function for the latter will lie to the right of the former. This prediction is also validated. The paper emphasizes the need for an explicit rationale for knowing how much choice is “enough.” © 2009 Wiley Periodicals, Inc.

Journal ArticleDOI
TL;DR: The authors found that the primary sector (mainly agriculture) has been the main driving force in poverty reduction over the period since 1980, and that it was the sectoral unevenness in the growth process, rather than its geographic unevenness, that handicapped poverty reduction.