Genetic analysis of the GRIK2 modifier effect in Huntington's disease

Background  

In Huntington's disease (HD), age at neurological onset is inversely correlated with the length of the CAG trinucleotide repeat mutation, but can be modified by genetic factors beyond the HD gene. Association of a relatively infrequent 16 TAA allele of a trinucleotide repeat polymorphism in the GRIK2 3'UTR with earlier than expected age at neurological onset has been suggested to reflect linkage disequilibrium with a functional polymorphism in GRIK2 or an adjacent gene.     

Catalytic Hydrocyanation of Activated Terminal Alkynes

A universal, practical and scalable organocatalytic hydrocyanation manifold to provide β-substituted acrylonitriles bearing an electron-withdrawing functionality has been implemented. The catalytic manifold operates under the reactivity generation principle “a good nucleophile generates a strong base”, and it uses 1,4-diazabicyclo[2.2.2]octane (DABCO) as the catalyst, activated terminal alkynes as substrates and acetone cyanohydrin as the cyanide source. The acrylonitriles obtained as E,Z mixtures are straightforwardly resolved by simple flash chromatography delivering the pure isomers in preparative amounts.     

Two-Photon Absorption Enhancement by the Inclusion of a Tropone Ring in Distorted Nanographene Ribbons

A new family of distorted ribbon-shaped nanographenes was designed, synthesized, and their optical and electrochemical properties were evaluated, pointing out an unprecedented correlation between their structural characteristics and the two-photon absorption (TPA) responses and electrochemical band gaps. Three nanographene ribbons have been prepared: a seven-membered-ring-containing nanographene presenting a tropone moiety at the edge, its full-carbon analogue, and a purely hexagonal one. We have found that the TPA cross-sections and the electrochemical band gaps of the seven-membered-ring-containing compounds are higher and lower, respectively, than those of the fully hexagonal polycyclic aromatic hydrocarbon (PAH). Interestingly, the inclusion of additional curvature has a positive effect in terms of non-linear optical properties of those ribbons.     

Superintegrability in Two Dimensions and the Racah–Wilson Algebra

The analysis of the most general second-order superintegrable system in two dimensions: the generic 3-parameter model on the 2-sphere is cast in the framework of the Racah problem for the \({\mathfrak{su}(1,1)}\) algebra. The Hamiltonian of the 3-parameter system and the generators of its quadratic symmetry algebra are seen to correspond to the total and intermediate Casimir operators of the combination of three \({\mathfrak{su}(1,1)}\) algebras, respectively. The construction makes explicit the isomorphism between the Racah–Wilson algebra, which is the fundamental algebraic structure behind the Racah problem for \({\mathfrak{su}(1, 1)}\) , and the invariance algebra of the generic 3-parameter system. It also provides an explanation for the occurrence of the Racah polynomials as overlap coefficients in this context. The irreducible representations of the Racah–Wilson algebra are reviewed as well as their connection with the Askey scheme of classical orthogonal polynomials.     

On well-posedness for some dispersive perturbations of Burgers' equation

We show that the Cauchy problem for a class of dispersive perturbations of Burgers' equations containing the low dispersion Benjamin–Ono equation

${?}_{t}u?D_x^{\alpha }{?}_{x}u={?}_x(u^2),0<\alpha \le 1,$

is locally well-posed in $H^s(\mathbb{R})$ when $s>s_{\alpha }:=\frac{3}{2}?\frac{5\alpha }{4}$. As a consequence, we obtain global well-posedness in the energy space $H^{\frac{\alpha }{2}}(\mathbb{R})$ as soon as $\frac{\alpha }{2}>s_{\alpha }$, i.e. $\alpha >\frac{6}{7}$.     

A Generalized Mass Involving Higher Order Symmetric Functions of the Curvature Tensor

We define a generalized mass for asymptotically flat manifolds using some higher order symmetric function of the curvature tensor. This mass is non-negative when the manifold is locally conformally flat and the σ _k curvature vanishes at infinity. In addition, with the above assumptions, if the mass is zero, then, near infinity, the manifold is isometric to a Euclidean end.     

Higher Sugawara Operators for the Quantum Affine Algebras of Type A

We give explicit formulas for the elements of the center of the completed quantum affine algebra in type A at the critical level that are associated with the fundamental representations. We calculate the images of these elements under a Harish-Chandra-type homomorphism. These images coincide with those in the free field realization of the quantum affine algebra and reproduce generators of the q-deformed classical \({{\mathcal W}}\)-algebra of Frenkel and Reshetikhin.     

Adaptive environment classification system for hearing aids

An adaptive sound classification framework is proposed for hearing aid applications. The long-term goal is to develop fully trainable instruments in which both the acoustical environments encountered in daily life and the hearing aid settings preferred by the user in each environmental class could be learned. Two adaptive classifiers are described, one based on minimum distance clustering and one on Bayesian classification. Through unsupervised learning, the adaptive systems allow classes to split or merge based on changes in the ongoing acoustical environments. Performance was evaluated using real-world sounds from a wide range of acoustical environments. The systems were first initialized using two classes, speech and noise, followed by a testing period when a third class, music, was introduced. Both systems were successful in detecting the presence of an additional class and estimating its underlying parameters, reaching a testing accuracy close to the target rates obtained from best-case scenarios derived from non-adaptive supervised versions of the classifiers (about 3% lower performance). The adaptive Bayesian classifier resulted in a 4% higher overall accuracy upon splitting adaptation than the minimum distance classifier. Merging accuracy was found to be the same in the two systems and within 1%-2% of the best-case supervised versions.     

Rotational CARS N2 thermometry: validation experiments for the influence of nitrogen spectral line broadening by hydrogen

Rotational coherent anti‐Stokes Raman spectroscopy (CARS) in fuel‐rich hydrocarbon flames, with a large content of hydrogen in the product gases (∼20%), has in previous work shown that evaluated temperatures are raised several tens of Kelvin by taking newly derived N₂ H₂ Raman line widths into account. To validate these results, in this work calibrated temperature measurements at around 300, 500 and 700 K were performed in a cell with binary gas mixtures of nitrogen and hydrogen. The temperature evaluation was made with respect to Raman line widths either from self‐broadened nitrogen only, N₂ N₂ [energy‐corrected‐sudden (ECS)], or by also taking nitrogen broadened by hydrogen, N₂ H₂ [Robert–Bonamy (RB)], Raman line widths into account. With increased amount of hydrogen in the cell at constant temperature, the evaluated CARS temperatures were clearly lowered with the use of Raman line widths from self‐broadened nitrogen only, and the case with inclusion of N₂ H₂ Raman line widths was more successful. The difference in evaluated temperatures between the two different sets increases approximately linearly, reaching 20 K (at T ∼ 300 K), 43 K (at T = 500 K) and 61 K (at T = 700 K) at the highest hydrogen concentration (90%). The results from this work further emphasize the importance of using adequate Raman line widths for accurate rotational CARS thermometry. Copyright © 2010 John Wiley & Sons, Ltd.