Point mutations in human GLI3 cause Greig syndrome

Greig cephalopolysyndactyly syndrome (GCPS, MIM 175700) is a rare autosomal dominant developmental disorder characterized by craniofacial abnormalities and post-axial and pre-axial polydactyly as well as syndactyly of hands and feet. Human GLI3, located on chromosome 7p13, is a candidate gene for the syndrome because it is interrupted by translocation breakpoints associated with GCPS. Since hemizygosity of 7p13 resulting in complete loss of one copy of GLI3 causes GCPS as well, haploinsufficiency of this gene was implicated as a mechanism to cause this developmental malformation. To determine if point mutations within GLI3 could be responsible for GCPS we describe the genomic sequences at the boundaries of the 15 exons and primer pair sequences for mutation analysis with polymerase chain reaction-based assays of the entire GLI3 coding sequences. In two GCPS cases, both of which did not exhibit obvious cytogenetic rearrangements, point mutations were identified in different domains of the protein, showing for the first time that Greig syndrome can be caused by GLI3 point mutations. In one case a nonsense mutation in exon X generates a stop codon truncating the protein in the C-H link of the first zinc finger. In the second case a missense mutation in exon XIV causes a Pro-->Ser replacement at a position that is conserved among GLI genes from several species altering a potential phosphorylation site.     

Susceptibility of penicillin-susceptible and -resistant pneumococci to CFC-222, a new fluoroquinolone

Rotavirus (RV) strains infecting newborns often have unique neutralization antigens (P serotypes) on their outer capsids that are distinct from those found on RV strains that cause diarrhea in older children. We examined the hypothesis that unusual RV strains preferentially infect newborns because the newborns lack maternal neutralizing antibodies to these strains. To test this hypothesis, sera and saliva samples collected from neonates infected with 116E-like (P[11]G9) strains in the maternity ward of the All India Institute of Medical Sciences (AIIMS) hospital in New Delhi were tested for neutralizing antibodies against common RV strains and those infecting newborns and these titers were compared with those of newborns who did not become infected (controls). The infected neonates had significantly lower levels of cord blood neutralizing antibodies to 116E than the controls, suggesting that immunity to neonatal RV infection is acquired transplacentally through maternal antibodies. Further, this study confirmed the immunogenicity of the AIIMS neonatal strain 116E, a vaccine candidate, in its ability to evoke a potent RV-specific immunoglobulin A and neutralizing antibody response in serum and saliva among the infected babies. Our findings have important implications for the development of an effective RV vaccine. In India, where G9 strains are common in the community, the use of 116E as a vaccine, together with the rhesus tetravalent vaccine, may provide a broader protection against all the circulating RV serotypes, including serotype G9, which is not represented in the current rhesus RV tetravalent vaccine (G1-G4).     

High-performance simulations of turbulent boundary layer flow using Intel Xeon Phi many-core processors

The Journal of Supercomputing - Direct numerical simulations (DNS) of turbulent flows have increasing importance because they not only provide fundamental understanding of turbulent flows but also...     

Neural network’s selection of color in UI design of social software

Neural Computing and Applications - In recent years, the design of social software UI has become a design research focus in the field of design. Color affects many factors in UI design. However,...     

Preparation and properties of polyimide/silica hybrid composites based on polymer‐modified colloidal silica

A new type of polyimide/silica (PI/SiO₂) hybrid composite films was prepared by blending polymer‐modified colloidal silica with the semiflexible polyimide. Polyimide was solution‐imidized at higher temperature than the glass transition temperature (T_g) using 3,3′,4,4′‐biphenyltetracarboxylic dianhydride (BPDA) and 4,4′‐diaminodiphenyl ether (ODA). The morphological observation on the prepared hybrid films by scanning electron microscopy (SEM) pointed to the existence of miscible organic–inorganic phase, which resulted in improved mechanical properties compared with pure PI. The incorporation of the silica structures in the PI matrix also increased both T_g and thermal stability of the resulting films. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 2053–2061, 2006     

Encapsulation mechanism of N2 molecules into the central hollow of carbon nitride multiwalled nanofibers

Nitrogen molecules have been encapsulated into the central hollows of vertically aligned carbon nitride (CN) multiwalled nanofibers by dc plasma-enhanced chemical vapor deposition with C₂H₂, NH₃, and N₂ gases on a Ni/TiN/Si(1 0 0) substrate at 650 °C. X-ray photoelectron spectroscopy and near-edge X-ray absorption fine structure spectra showed the existence of nitrogen molecules in CN nanofibers. Elemental mapping images with electron energy loss spectroscopy of the CN nanofiber and catalyst metal, and optical emission spectroscopy spectra of the plasma showed the distribution of nitrogen atoms and molecules in the CN nanofiber, catalyst metal, and gaseous precursor, respectively. These studies showed that atomic nitrogen diffused into the catalytic metal particle because of the concentration gradient and then saturated at the bottom of the particle. Saturated nitrogen atom participated in the formation of the CN nanofiber wall but most of nitrogen was trapped in the central hollow of the nanofiber as molecules.     

Modeling and economic analysis of CO<Subscript>2</Subscript> separation process with hollow fiber membrane modules

The main purpose of the study was to develop a model using ASPEN and Excel simulation method to establish optimum CO₂ separation process utilizing hollow fiber membrane modules to treat exhaust gas from LNG combustion. During the simulation, optimum conditions of each CO₂ separation scenario were determined while operating parameters of CO₂ separation process were varied. The characteristics of hollow fibers membrane were assigned as 60 GPU of permeability and 25 of selectivity for the simulation. The simulation results illustrated that 4 stage connection of membrane module is required in order to achieve over 99% of CO₂ purity and 90% of recovery rate. The resulted optimum design and operation parameters throughout the simulation were also correlated with the experimental data from the actual CO₂ separation facility which has a capacity of 1,000 Nm³/day located in the Korea Research Institute of Chemical Technology. Throughout the simulation, the operating parameters of minimum energy consumption were evaluated. Economic analysis of pilot scale of CO₂ separation plant was done with the comparison of energy cost of CO₂ recovery and equipment cost of the plant based on the simulation model. This work was presented at the 6 ^th Korea-China Workshop on Clean Energy Technology held at Busan, Korea, July 4–7, 2006.     

Ergonomic Analysis of Mobile Cart–Assisted Stocking Activities Using Electromyography

Workers in grocery stores are exposed to numerous musculoskeletal risks that can be reduced using assistive devices while performing stocking tasks. A regional grocery store has recently deployed a mobile cart without comprehension of its ergonomic impact on workers, which this article investigates using normalized electromyography data (%MVC). This article studies not only ergonomic impact based on %MVC values but also work performance represented by a muscle force metric (MFM). The results from this study showed highest muscle groups in %MVC and MFM were the erector spinae and triceps. Interestingly, muscle activations on erector spinae were reduced when mobile cart is used. %MVC and MFM distribution for value‐added‐ and non‐value‐added subtasks were slightly different, with larger differences observed for non‐value‐added tasks. Video recordings revealed higher work performance when the mobile cart is used. In future research, the number of participants will be increased to further validate the results from this study.     

Page segmentation using minimum homogeneity algorithm and adaptive mathematical morphology

Document layout analysis or page segmentation is the task of decomposing document images into many different regions such as texts, images, separators, and tables. It is still a challenging problem due to the variety of document layouts. In this paper, we propose a novel hybrid method, which includes three main stages to deal with this problem. In the first stage, the text and non-text elements are classified by using minimum homogeneity algorithm. This method is the combination of connected component analysis and multilevel homogeneity structure. Then, in the second stage, a new homogeneity structure is combined with an adaptive mathematical morphology in the text document to get a set of text regions. Besides, on the non-text document, further classification of non-text elements is applied to get separator regions, table regions, image regions, etc. The final stage, in refinement region and noise detection process, all regions both in the text document and non-text document are refined to eliminate noises and get the geometric layout of each region. The proposed method has been tested with the dataset of ICDAR2009 page segmentation competition and many other databases with different languages. The results of these tests showed that our proposed method achieves a higher accuracy compared to other methods. This proves the effectiveness and superiority of our method.     

Thin‐film barriers using transparent conducting oxides for organic light‐emitting diodes

Abstract— This study covers thin‐film barriers using inorganic barriers of transparent conducting oxides (TCOs) such as zinc oxide (ZnO) and indium tin oxide (ITO). The TCOs were fabricated using a sputtering method with a process gas of pure argon at room temperature. ITO showed better properties as a barrier than the ZnO and exhibited the electronic performance necessary to perform additional functions. The ITO has superior barrier performance because it has a lower crack density due to its partial amorphous phase. For organic/inorganic multilayer barriers, the organic underlayer decreased the water‐vapor transmission rate (WVTR) more than the organic upper layer, indicating that the planarization effect was important in reducing the WVTRs. The results of this organic/ITO multilayer barrier study are expected to be useful in finding a practical solution to OLED encapsulation.