Association of a GRIA3 gene polymorphism with migraine in an Australian case-control cohort

BACKGROUND: The excitatory neurotransmitter glutamate has been implicated in both the hyperexcitability required for cortical spreading depression as well as activation of the trigeminovascular system required for the allodynia associated with migraine. Polymorphisms in the glutamate receptor ionotropic amino-3-hydroxy-5-methyl-4-isoxazole-propionin acid 1 (GRIA1) and GRIA3 genes that code for 2 of 4 subunits of the glutamate receptor have been previously associated with migraine in an Italian population. In addition, the GRIA3 gene is coded within a previously identified migraine susceptibility locus at Xq24. This study investigated the previously associated polymorphisms in both genes in an Australian case-control population. METHODS: Variants in GRIA1 and GRIA3 were genotyped in 472 unrelated migraine cases and matched controls, and data were analyzed for association. RESULTS: Analysis showed no association between migraine and the GRIA1 gene. However, association was observed with the GRIA3 single nucleotide polymorphism (SNP) rs3761555 (P = .008). CONCLUSION: The results of this study confirmed the previous report of association at the rs3761555 SNP within the migraine with aura subgroup of migraineurs. However, the study identified association with the inverse allele suggesting that rs3761555 may not be the causative SNP but is more likely in linkage disequilibrium with another causal variant in both populations. This study supports the plethora of evidence suggesting that glutamate dysfunction may contribute to migraine susceptibility, warranting further investigation of the glutamatergic system and particularly of the GRIA3 gene.

The genetics of endurance : frequency of the ACTN3 R577X variant in Ironman World Championship athletes

Objectives To investigate the frequency of the ACTN3 R577X polymorphism in elite endurance triathletes, and whether ACTN3 R577X is significantly associated with performance time. Design Cross-sectional study. Methods Saliva samples, questionnaires, and performance times were collected for 196 elite endurance athletes who participated in the 2008 Kona Ironman championship triathlon. Athletes were of predominantly North American, European, and Australian origin. A one-way analysis of variance was conducted to compare performance times between genotype groups. Multiple linear regression analysis was performed to model the effect of questionnaire variables and genotype on performance time. Genotype and allele frequencies were compared to results from different populations using the chi-square test. Results Performance time did not significantly differ between genotype groups, and age, sex, and continent of origin were significant predictors of finishing time (age and sex: p < 5 × 10−6; continent: p = 0.003) though genotype was not. Genotype and allele frequencies obtained (RR 26.5%, RX 50.0%, XX 23.5%, R 51.5%, X 48.5%) were found to be not significantly different from Australian, Spanish, and Italian endurance athletes (p > 0.05), but were significantly different from Kenyan, Ethiopian, and Finnish endurance athletes (p < 0.01). Conclusions Genotype and allele frequencies agreed with those reported for endurance athletes of similar ethnic origin, supporting previous findings for an association between 577X allele and endurance. However, analysis of performance time suggests that ACTN3 does not alone influence endurance performance, or may have a complex effect on endurance performance due to a speed/endurance trade-off.

In the shadow of the enlightenment : Le Corbusier, Le Faisceau and Georges Valois

On 9 January 1927 Le Corbusier materialised on the front cover of the Faisceau journal edited by Georges Valois Le Nouveau Siècle which printed the single-point perspective of Le Corbusier’s Plan Voisin and an extract from the architect’s discourse in Urbanisme. In May Le Corbusier presented slides of his urban designs at a fascist rally. These facts have been known ever since the late 1980s when studies emerged in art history that situated Le Corbusier’s philosophy in relation to the birth of twentieth-century fascism in France—an elision in the dominant reading of Le Corbusier’s philosophy, as a project of social utopianism, whose received genealogy is Saint-Simon and Charles Fourier. Le Corbusier participated with the first group in France to call itself fascist, Valois’s militant Faisceau des Combattants et Producteurs, the “Blue Shirts,” inspired by the Italian “Fasci” of Mussolini. Thanks to Mark Antliff, we know the Faisceau did not misappropriate Le Corbusier’s plans, in some remote quasi-symbolic sense, rather Valois’s organisation was premised on the redesign of Paris based on Le Corbusier’s schematic designs. Le Corbusier’s Urbanisme was considered the “prodigious” model for the fascist state Valois called La Cité Française – after his mentor the anarcho-syndicalist Georges Sorel. Valois stated that Le Corbusier’s architectural concepts were “an expression of our profoundest thoughts,” the Faisceau, who “saw their own thought materialized” on the pages of Le Corbusier’s plans. The question I pose is, In what sense is Le Corbusier’s plan a complete representation of La Cité? For Valois, the fascist city “represents the collective will of La Cité” invoking Enlightenment philosophy, operative in Sorel, namely Rousseau, for whom the notion of “collective will” is linked to the idea of political representation: to ‘stand in’ for someone or a group of subjects i.e. the majority vote. The figures in Voisin are not empty abstractions but the result of “the will” of the “combatant-producers” who build the town. Yet, the paradox in anarcho-syndicalist anti-enlightenment thought – and one that became a problem for Le Corbusier – is precisely that of authority and representation. In Le Corbusier’s plan, the “morality of the producers” and “the master” (the transcendent authority that hovers above La Cité) is lattened into a single picture plane, thereby abolishing representation. I argue that La Cité pushed to the limits of formal abstraction by Le Corbusier thereby reverts to the Enlightenment myth it first opposed, what Theodor Adorno would call the dialectic of enlightenment.

Development of a new signal processing diagnostic tool for vibration signals acquired in transient conditions

The diagnostics of mechanical components operating in transient conditions is still an open issue, in both research and industrial field. Indeed, the signal processing techniques developed to analyse stationary data are not applicable or are affected by a loss of effectiveness when applied to signal acquired in transient conditions. In this paper, a suitable and original signal processing tool (named EEMED), which can be used for mechanical component diagnostics in whatever operating condition and noise level, is developed exploiting some data-adaptive techniques such as Empirical Mode Decomposition (EMD), Minimum Entropy Deconvolution (MED) and the analytical approach of the Hilbert transform. The proposed tool is able to supply diagnostic information on the basis of experimental vibrations measured in transient conditions. The tool has been originally developed in order to detect localized faults on bearings installed in high speed train traction equipments and it is more effective to detect a fault in non-stationary conditions than signal processing tools based on spectral kurtosis or envelope analysis, which represent until now the landmark for bearings diagnostics.

A multi-touch notice board fostering social interaction

We report on an alternative OCGM interface for a bulletin board, where a user can pin a note or a drawing, and actually shares contents. Exploiting direct and continuous manipulations, opposite to discrete gestures, to explore containers, the proposed interface supports a more natural and immediate interaction. It manages also the presence of different simultaneous users, allowing for the creation of local multimedia contents, the connection to social networks, providing a suitable working environment for cooperative and collaborative tasks in a multi-touch setup, such as touch-tables, interactive walls or multimedia boards

Haemochromatosis and HLA--H

The recently identified can didate gene, HLA-H, for haemochromatosis (HH) by Feder et al. generated considerable scientific interest coupled with a degree of uncertainty about the likely involvement of this gene in this common iron metabolism disorder, Feder et al. found a single point mutation resulting in an amino acid substitution (C282Y) that was homozygous in 148 (83%) of their patients, heterozygous in 9 patients (5%) but completely absent in 21 patients (12%). They proposed that the lack of a causative mutation in HLA-H in 12% of their patients was because these cases were not linked to chromosome 6p. A significant weakness in this argument is that all familial studies of the disorder so far have concluded that HH is due to a single major HLA-linked gene5-7. The ultimate test for a candidate gene is the clear segregation of a mutation with the disorder in all patients. Thus, some of the uncertainty surrounding the role of HLA-H in HH may be resolved by the identification of complete concordance of the C282Y mutation (or some other mutation) in HLA H with disease status in HH families. One potential problem in the design of such an experimental analysis is that a number of studies have shown the presence of a predominant ancestral haplotype in all HH populations examined: Australian, French, Italian, UK and US Thus in the analysis of a putative causative mutation, it is important to include families with...

Developing the quantum probability ranking principle

In this work, we summarise the development of a ranking principle based on quantum probability theory, called the Quantum Probability Ranking Principle (QPRP), and we also provide an overview of the initial experiments performed employing the QPRP. The main difference between the QPRP and the classic Probability Ranking Principle, is that the QPRP implicitly captures the dependencies between documents by means of quantum interference". Subsequently, the optimal ranking of documents is not based solely on documents' probability of relevance but also on the interference with the previously ranked documents. Our research shows that the application of quantum theory to problems within information retrieval can lead to consistently better retrieval effectiveness, while still being simple, elegant and tractable.

Chocolate, Jazz and Christmas festivals in Tubingen & Stuttgart

A travel article about southern German festivals. IT WAS Golden October, when a last wave of Italian warmth made it across the Alps into southern Germany. Outside, the final sunlight of the day found the tops of trees, and the town seemed cast entirely in autumn patterns. I followed the busy pedestrian traffic across the Neckar River into the old part of Tübingen.

Investigating subspace distances in semantic spaces

Semantic space models of word meaning derived from co-occurrence statistics within a corpus of documents, such as the Hyperspace Analogous to Language (HAL) model, have been proposed in the past. While word similarity can be computed using these models, it is not clear how semantic spaces derived from different sets of documents can be compared. In this paper, we focus on this problem, and we revisit the proposal of using semantic subspace distance measurements [1]. In particular, we outline the research questions that still need to be addressed to investigate and validate these distance measures. Then, we describe our plans for future research.

Experimental evidences in bearing diagnostics for traction system of high speed trains

Rolling element bearings are the most critical components in the traction system of high speed trains. Monitoring their integrity is a fundamental operation in order to avoid catastrophic failures and to implement effective condition based maintenance strategies. Generally, diagnostics of rolling element bearings is usually performed by analyzing vibration signals measured by accelerometers placed in the proximity of the bearing under investigation. Several papers have been published on this subject in the last two decades, mainly devoted to the development and assessment of signal processing techniques for diagnostics. The experimental validation of such techniques has been traditionally performed by means of laboratory tests on artificially damaged bearings, while their actual effectiveness in specific industrial applications, particularly in rail industry, remains scarcely investigated. This paper is aimed at filling this knowledge gap, by addressing the diagnostics of bearings taken from the service after a long term operation on the traction system of a high speed train. Moreover, in order to test the effectiveness of the diagnostic procedures in the environmental conditions peculiar to the rail application, a specific test-rig has been built, consisting of a complete full-scale train traction system, able to reproduce the effects of wheeltrack interaction and bogie-wheelset dynamics. The results of the experimental campaign show that suitable signal processing techniques are able to diagnose bearing failures even in this harsh and noisy application. Moreover, the most suitable location of the sensors on the traction system is proposed, in order to limit their number.

Effects of HNO3 molecular doping in graphene/Si Schottky barrier solar cells

Schottky barrier solar cells based on graphene/n-silicon heterojunction have been fabricated and characterized and the effect of graphene molecular doping by HNO3 on the solar cells performances have been analyzed. Different doping conditions and thermal annealing processes have been tested to asses and optimize the stability of the devices. The PCE of the cells increases after the treatment by HNO3 and reaches 5% in devices treated at 200 °C immediately before the exposition to the oxidant. Up to now our devices retain about 80% of efficiency over a period of two weeks, which represents a good stability result for similar devices.

Co-branding strategies for luxury fashion brands : Missoni for Target

Missoni is a luxury Italian knitwear brand that partnered with Target in September 2011 releasing a large, one off, mass-market collection that ranged from apparel to home wares. The collaboration received extensive media coverage and was consequently extremely sought after. The online sales site crashed within hours of opening while shelves were cleared in stores minutes after trading began. Within hours more than 40000 items from the collection were posted for sale online at greatly inflated prices. Evaluation of the case study revealed that sales of the Missoni collection increased following the collaboration and the value of the publicity generated at estimated US$100 million. The lack of available stock, despite the enormous hype created, reinforced Missoni’s luxury image. Missoni was able to gain massive awareness of the brand despite not employing any of its own communication channels in the promotion of the collaboration. However the co-branded collaboration was distinctively Missoni, potentially inciting comparison and confusion with the signature line. Nevertheless, this study shows that co-branding strategies can offer a viable opportunity for luxury brands to increase their market share, while they maintain their market position.

Traditional and geometric morphometrics detect morphological variation of lower pharyngeal jaw inCoris julis(Teleostei, Labridae)

In the present study, variation in the morphology of the lower pharyngeal element between two Sicilian populations of the rainbow wrasse Coris julis has been explored by the means of traditional morphometrics for size and geometric morphometrics for shape. Despite close geographical distance and probable high genetic flow between the populations, statistically significant differences have been found both for size and shape. In fact, one population shows a larger lower pharyngeal element that has a larger central tooth. Compared to the other population, this population also has medially enlarged lower pharyngeal jaws with a more pronounced convexity of the medial-posterior margin. The results are discussed in the light of a possible more pronounced durophagy of this population.

Morphology of scale lepidonts in the genusAphanius(Teleostei, Cyprinodontidae) using SEM

The microstructure of the anterior region of the scales in several species of the genus Aphanius was studied by SEM with the aim of determining whether scale morphology could be used to discriminate between the species of this genus. The characters examined concern the morphology of lepidonts, or “scale‐teeth”, their distribution and mode of implantation on the circuli. These characters were also subjected to UPGMA cluster analysis. Results from phenetic analysis of scale‐teeth characters agree overall with those of previously published morphological and biogeographical studies and in part with molecular analysis of the phylogenetic relationships between species of Aphanius. An affinity between A. danfordii and A. mento (found previously in studies based on osteological observations) was seen. The separation of A. apodus from the other species of the fasciatus group, which had also been noticed from molecular observations, was also observed, as well as the affinity of A. ginaonis with the group of A. dispar+A. sirhani. This study demonstrates that scale morphology can provide useful information on the relationships among species of the genus Aphanius encouraging the use of scale characters, combined with other traits, in phylogenetic analyses.