Oxidation of the borohydride Ion at silver nanoparticles on a glassy carbon electrode (GCE) using pulsed potential techniques

Direct oxidation borohydride fuel cells are very attractive energy conversion devices. Silver has been reported as one of the few materials which can catalyze an 8-electron oxidation. Potential step amperometric pulse techniques to synthesize nanostructured silver material on flat glassy carbon electrodes is reported and significant differences with bulk silver deposit have been observed. The oxidation of borohydride ion on the silver particles occurs at -0.025 V vs. SCE and the potential decreases towards negative values at longer cycle times. The oxidation current also decreases with the number of cycles, suggesting that the silver active sites become partially blocked by oxidation products of borohydride. The electroactive area per unit electrode area of silver was relatively low for particles deposited using potential step amperometric techniques on glassy carbon (0.002 cm2 per cm-2) compared with the area found at a polycrystalline silver electrode (0.103 cm2 per cm-2

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without neurodevelopmental delay. We detected 107 variants in 48 different genes, which were implicated in neuronal excitability, neurodevelopment, synaptic transmission, and metabolic pathways. In 104 cases (42%) we detected variant(s) that we classified as pathogenic or likely pathogenic. Of the 48 mutated genes, 32 were dominant, 8 recessive and 8 X-linked. Of the patients for whom family studies could be performed and in whom pathogenic variants were identified in dominant or X-linked genes, 82% carried de novo mutations. The involvement of small copy number variations (CNVs) is 9%. The use of progressively updated custom panels with high mean vertical coverage enabled establishment of a definitive diagnosis in a large proportion of cases (42%) and detection of CNVs (even duplications) with high fidelity. In 10.5% of patients we detected associations that are pending confirmation via functional and/or familial studies. Our findings had important consequences for the clinical management of the probands, since a large proportion of the cohort had been clinically misdiagnosed, and their families were subsequently able to avail of genetic counseling. In some cases, a more appropriate treatment was selected for the patient in question, or an inappropriate treatment discontinued. Our findings suggest the existence of modifier genes that may explain the incomplete penetrance of some epilepsy-related genes. We discuss possible reasons for non-diagnosis and future research directions. Further studies will be required to uncover the roles of structural variants, epimutations, and oligogenic inheritance in epilepsy, thereby providing a more complete molecular picture of this disease. In summary, given the broad phenotypic spectrum of most epilepsy-related genes, efficient genomic tools like the targeted exome sequencing panel described here are essential for early diagnosis and treatment, and should be implemented as first-tier diagnostic tools for children with epilepsy without a clear etiologic basis

Flavon exchange effects in models with abelian flavor symmetry

In models with abelian flavor symmetry the small mixing angles and mass ratios of quarks and leptons are typically given by powers of small parameters characterizing the spontaneous breaking of flavor symmetry by "flavon" fields. If the scale of the breaking of flavor symmetry is near the weak scale, flavon exchange can lead to interesting flavor-violating and CP violating effects. These are studied. It is found that d_e, mu -> e + gamma, and mu-e conversion on nuclei can be near present limits. For significant range of parameters mu-e conversion can be the most sensitive way to look for such effects.Comment: 19 pages, 5 Postscript figures, LATE

SUSY GUT Model Building

I discuss an evolution of SUSY GUT model building, starting with the construction of 4d GUTs, to orbifold GUTs and finally to orbifold GUTs within the heterotic string. This evolution is an attempt to obtain realistic string models, perhaps relevant for the LHC. This review is in memory of the sudden loss of Julius Wess, a leader in the field, who will be sorely missed.Comment: 24 pages, 14 figures, lectures given at PiTP 2008, Institute for Advanced Study, Princeton, to be published in the European Physical Journal

Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach

Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent–child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case–control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive–compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were tagging SNPs from eight monoamine neurotransmitter-related genes (including dopamine and serotonin); 10 were top SNPs from TS GWAS; and 13 top SNPs from attention-deficit/hyperactivity disorder, OCD, or ASD GWAS. None of the SNPs or genes reached significance after adjustment for multiple testing. We observed nominal significance for the candidate SNPs rs3744161 (TBCD) and rs4565946 (TPH2) and for five tagging SNPs; none of these showed significance in the independent cohort. Also, SLC1A1 in our gene-based analysis and two TS GWAS SNPs showed nominal significance, rs11603305 (intergenic) and rs621942 (PICALM). We found no convincing support for previously implicated genetic polymorphisms. Targeted re-sequencing should fully appreciate the relevance of candidate genes

Muon anomalous magnetic moment, B→XsγB\to X_s \gamma and dark matter detection in the string models with dilaton domination

We consider the muon anomalous magnetic moment $a_{\mu}$ in the string models with dilaton domination with two different string scales : the usual GUT scale and the intermediate scale. After imposing the direct search limits on the lightest neutral Higgs and SUSY particle masses and the lightest neutralino LSP, the $a_{\mu}^{\rm SUSY}$ is predicted to be less than $65 (55) \times 10^{-10}$ for $M_{string} = 2 \times 10^{16}$ GeV ($3 \times 10^{11}$ GeV). If we further impose the $B\to X_s \gamma$ branching ratio, the predicted $a_{\mu}^{\rm SUSY}$ becomes lower to $35 \times 10^{-10}$ for intermediate string scale. The resulting LSP - proton scattering cross section is less than $\sim 10^{-7}$ pb, which is below the sensitivity of the current direct dark matter search experiments, but could be covered by future experiments.Comment: PRD accepted versio

The boomerang effect of radicalism in Discursive Psychology: A critical overview of the controversy with the Social Representations Theory.

This article provides a critical overview of the controversy between the Radical approach to Discursive Psychology (RDP) and the Social Representations Theory (SRT) and aims: a)?to show what is potentially complementary and contradictory in Discursive Psychology (DP) and the Social Representations Theory, when and why they are incompatible, and whether and how it is possible and/or desirable to integrate these two approaches. b)?to describe how the radicalism of the socio-constructionist thesis upheld by Discourse Analysis can give rise to several hard-to-solve problems, which may then be translated into a boomerang effect. In the final section, it highlights interest in dialog and “cross-fertilization” between researchers inspired by the less radical approach to discursive psychology and those inspired by the Social Representations Theory, pointing out the effect of methodological implications that would ensue

Collider aspects of flavour physics at high Q

This review presents flavour related issues in the production and decays of heavy states at LHC, both from the experimental side and from the theoretical side. We review top quark physics and discuss flavour aspects of several extensions of the Standard Model, such as supersymmetry, little Higgs model or models with extra dimensions. This includes discovery aspects as well as measurement of several properties of these heavy states. We also present public available computational tools related to this topic.Comment: Report of Working Group 1 of the CERN Workshop ``Flavour in the era of the LHC'', Geneva, Switzerland, November 2005 -- March 200

New insights into the genetic etiology of Alzheimer's disease and related dementias

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

Native diversity buffers against severity of non-native tree invasions

Determining the drivers of non-native plant invasions is critical for managing native ecosystems and limiting the spread of invasive species1,2. Tree invasions in particular have been relatively overlooked, even though they have the potential to transform ecosystems and economies3,4. Here, leveraging global tree databases5–7, we explore how the phylogenetic and functional diversity of native tree communities, human pressure and the environment influence the establishment of non-native tree species and the subsequent invasion severity. We find that anthropogenic factors are key to predicting whether a location is invaded, but that invasion severity is underpinned by native diversity, with higher diversity predicting lower invasion severity. Temperature and precipitation emerge as strong predictors of invasion strategy, with non-native species invading successfully when they are similar to the native community in cold or dry extremes. Yet, despite the influence of these ecological forces in determining invasion strategy, we find evidence that these patterns can be obscured by human activity, with lower ecological signal in areas with higher proximity to shipping ports. Our global perspective of non-native tree invasion highlights that human drivers influence non-native tree presence, and that native phylogenetic and functional diversity have a critical role in the establishment and spread of subsequent invasions