Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, including the family in which LCA was originally linked to the LCA9 locus. Notably, all individuals with NMNAT1 mutations also have macular colobomas, which are severe degenerative entities of the central retina (fovea) devoid of tissue and photoreceptors. Functional assays of the proteins encoded by the mutant alleles identified in our study showed that the mutations reduce the enzymatic activity of NMNAT1 in NAD biosynthesis and affect protein folding. Of note, recent characterization of the slow Wallerian degeneration (Wld(s)) mouse model, in which prolonged axonal survival after injury is observed, identified NMNAT1 as a neuroprotective protein when ectopically expressed. Our findings identify a new disease mechanism underlying LCA and provide the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder.     

Microring-Assisted Coupling Between Dissimilar Waveguides

The use of microring resonators to assist in the evanescent field coupling between dissimilar waveguides is proposed and analyzed. Theoretical analysis based on the coupled mode theory and nu-merical example show that complete cross power transfers can be obtained near the microring resonances. Applications of the device include power dividers, low-power thermo-optic or electro-optic switches, and modulators.     

LaConf:A Localized Address Autoconfiguration Scheme for Wireless Ad Hoc Networks

We propose a localized address autoconfiguration (LaConf) scheme for wireless ad hoc networks.Address allocation information is maintained on the network border nodes,called addressing agents (AAs),which are locally identified by a geographic routing protocol GFG (Greedy-FACE-Greedy).When a node joins the network,it acquires an address from a neighboring AA (if any exists) by local communication or from the head AA (a geographic extreme AA) by GFG-based multi-hop communication.A Geographic Hash Table (GHT) ...     

THE EFFECT OF TRANSITION METAL IONS-IRON ON HYDROGEN PEROXIDE BLEACHING

INTRODUCTIONHydrogen peroxide bleaching has been extensively used in high-yield pulp bleaching. IT is well known that hydrogen peroxide can be easily decomposed under alkaline conditions, especially in the presence of transition metal ions due to their catalyzing effect on the decomposition of hydrogen peroxide. Some recent reports show that the valence of transition metal ion can have a drastic effect on the decomposition of hydrogen peroxide.Generally, iron can exist in Fe2+ and Fe3+…     

Modeling large reversible electric-field-induced strain in ferroelectric materials using 90° orientation switching

Reversible large electric-field-induced strain caused by reversible orientation switchings in BaTiO3 is modeled using the Landau's theory of phase transition.A triple well free energy function is constructed.Each of its minima is associated with one of the polarization orientations involved.Nonlinear constitutive laws accounting for reversible orientation switchings and electrostriction effects are obtained by using thermodynamic equilibrium conditions.Hysteretic dynamics of onedimensional structures is des...     

聚乙烯树枝化的新模型

作者考虑到聚合物的形态结构和能带特点,应用近似的平板能带理论,说明了电子和空穴注入的不同方式和途径。同极性空间电荷的形成过程中存在着两种相互矛盾的作用,一方面它降低针尖附近介质中的电场强度,有提高树枝起始电压的趋势;另一方面注入过程中正负载流子的复合或热电子的作用,有降低树枝起始电压的倾向。模型中首次提出了在聚合物的树枝潜伏期内存在着一个低密度区的过渡阶段,并用条纹图象法证明了这个区域的存在。其他一些特殊试验支持了新模型的构思。     

Fault-Tolerant Control for a Class of Uncertain Systems with Actuator Faults

The problem of fault-tolerant controller design for a class of polytopic uncertain systems with actuator faults is studied in this paper. The actuator faults are presented as a more general and practical continuous fault model. Based on the affine quadratic stability (AQS), the stability of the polytopic uncertain system is replaced by the stability at all corners of the polytope. For a wide range of problems including H∞ and mixed H 2 /H∞ controller design, sufficient conditions are derived to guarantee the robust stability and performance of the closed-loop system in both normal and fault cases. In the framework of the linear matrix inequality (LMI) method, an iterative algorithm is developed to reduce conservativeness of the design procedure. The effectiveness of the proposed design is shown through a flight control example.     

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adults of European descent. Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 × 10(-8) in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 × 10(-6) overall, with support in each of the three datasets studied). We also show that polymorphisms of ERAP1, which encodes an endoplasmic reticulum aminopeptidase involved in peptide trimming before HLA class I presentation, only affect ankylosing spondylitis risk in HLA-B27-positive individuals. These findings provide strong evidence that HLA-B27 operates in ankylosing spondylitis through a mechanism involving aberrant processing of antigenic peptides.     

Extraction of affine invariant features for shape recognition based on ant colony optimization

A new approach to extraction of affine invariant features of contour image and matching strategy is proposed for shape recognition.Firstly,the centroid distance and azimuth angle of each boundary point are computed.Then,with a prior-defined angle interval,all the points in the neighbor region of the sample point are considered to calculate the average distance for eliminating noise.After that,the centroid distance ratios(CDRs) of any two opposite contour points to the barycenter are achieved as the representation of the shape,which will be invariant to affine transformation.Since the angles of contour points will change non-linearly among affine related images,the CDRs should be resampled and combined sequentially to build one-by-one matching pairs of the corresponding points.The core issue is how to determine the angle positions for sampling,which can be regarded as an optimization problem of path planning.An ant colony optimization(ACO)-based path planning model with some constraints is presented to address this problem.Finally,the Euclidean distance is adopted to evaluate the similarity of shape features in different images.The experimental results demonstrate the efficiency of the proposed method in shape recognition with translation,scaling,rotation and distortion.