bluuebunny/crossref_metadata_2025_split huggingface dataset:
A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder
Authors: Williams Jaime M. , Beck Tyler F. , Pearson David M. , Proud Monica B. , Cheung Sau Wai , Scott Daryl A. 
Published: July 2009

AbstractIndividuals with autism spectrum disorders have impairments in social, communicative, and behavior development that are often accompanied by abnormalities in cognitive functioning, learning, attention, and sensory processing. In this report, we describe a 3‐year‐old male child with an autism spectrum disorder who carries a 2 Mb deletion of chromosome 1q42. Array comparative genome hybridization revealed that this deletion involves at least three genes—DISC1, DISC2, and TSNAX—which have been found to be associated with neuropsychiatric disorders and are likely to play key roles in normal CNS development. Further studies revealed that the deletion was inherited from his unaffected mother. This suggests that other genetic and/or environmental factors, some of which may be sex specific, may modify the phenotypic effects of this deletion. While this case provides evidence for the potential role of DISC1, DISC2, and TSNAX in the development of autism spectrum disorders, it is equally clear that caution must be taken when providing families with prognostic information and genetic counseling regarding such deletions. © 2009 Wiley‐Liss, Inc.
Investigation of factors associated with paternal nondisjunction of chromosome 21
Authors: Oliver Tiffany Renee , Bhise Archit , Feingold Eleanor , Tinker Stuart , Masse Nirupama , Sherman Stephanie L. 
Published: July 2009

AbstractPrevious studies on relatively small samples of individuals with trisomy 21 caused by paternally derived errors have shown that: (1) advanced paternal age is not a risk factor for chromosome 21 nondisjunction (NDJ), (2) absence of recombination, but not the location of recombination is associated with paternal NDJ and (3) there is an excess of males among live‐births with paternally derived trisomy 21. An excess of males is also observed among all individuals with trisomy 21. Using 128 families that had a child with trisomy 21 due to a paternally derived error, we examined: paternal age, recombination and the male/female sex ratio. We genotyped STRs along 21q to identify the origin of the error and the location of recombination on the paternal chromosome. Results showed that 32% of paternal meiotic errors occurred in meiosis I (MI) and 68% in meiosis II (MII). We confirmed the lack of a paternal age association with either type of error (mean paternal age for controls, MI, and MII errors: 31.3 ± 6.6, 32.2 ± 6.3, 30.6 ± 6.5, respectively). However, contrary to previous findings, we did not find altered patterns of recombination among paternal MI or MII errors. We found an increased male/female sex ratio among paternal (1.28, 95% CI: 0.68–1.91) and maternal (1.16, 95% CI: 1.02–1.33) meiotic errors. While the sex ratio among individuals with paternal errors was not statistically significant, these findings suggest that selection against female fetuses with trisomy 21 may contribute to the excess of males observed among all individuals with trisomy 21. © 2009 Wiley‐Liss, Inc.
Nicolaides–Baraitser syndrome: Delineation of the phenotype
Authors: Sousa Sérgio B. , Abdul‐Rahman Omar A. , Bottani Armand , Cormier‐Daire Valérie , Fryer Alan , Gillessen‐Kaesbach Gabriele , Horn Denise , Josifova Dragana , Kuechler Alma , Lees Melissa , MacDermot Kay , Magee Alex , Morice‐Picard Fanny , Rosser Elizabeth , Sarkar Ajoy , Shannon Nora , Stolte‐Dijkstra Irene , Verloes Alain , Wakeling Emma , Wilson Louise , Hennekam Raoul C.M. 
Published: July 2009

AbstractNicolaides–Baraitser syndrome (NBS) is an infrequently described condition, thus far reported in five cases. In order to delineate the phenotype and its natural history in more detail, we gathered data on 18 hitherto unreported patients through a multi‐center collaborative study, and follow‐up data of the earlier reported patients. A detailed comparison of the 23 patients is provided. NBS is a distinct and recognizable entity, and probably has been underdiagnosed until now. Main clinical features are severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time. The main differential diagnosis is Coffin–Siris syndrome. There is no important gender difference in occurrence and frequency of the syndrome, and all cases have been sporadic thus far. Microarray analysis performed in 14 of the patients gave normal results. Except for the progressive nature there are no clues to the cause. © 2009 Wiley‐Liss, Inc.
Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients
Authors: Tüysüz Beyhan , Barış Safa , Aksoy Figen , Madazlı Rıza , Üngür Savaş , Sever Lale 
Published: July 2009

AbstractAsphyxiating thoracic dystrophy‐Jeune syndrome (JS) is a rare autosomal recessive disease characterized by small thorax and short limb dwarfism. Besides the clinical variability, prognosis also differs greatly among patients. Pulmonary involvement is predominant in some cases whereas renal involvement is much more evident in others. We aimed to investigate the clinical variability and prognosis in 13 patients with JS from 11 families. Two of them, who had been diagnosed in the prenatal period were assessed by autopsy findings. All patients had a bell‐shaped or long narrow short thorax and brachydactyly at varying degrees from mild to severe. Short stature was common feature emerging in the postnatal period. One patient had atlantoaxial instability and spinal cord compression which have not been reported in JS before. In the postnatal follow up of 11 patients, respiratory distress was observed in eight patients and proved lethal in six, one patient died of chronic renal failure, and the remaining four patients were still alive at the end of the study. Patients were classified into three groups consisting of severe pulmonary involvement, renal involvement, and mild form in terms of prognosis. Patients with severe pulmonary involvement had bell‐shaped thorax and mild brachydactyly, the one patient with renal involvement had long narrow thorax and severe brachydactyly, and patients with mild involvement presented with polydactyly and moderate to severe brachydactyly. It is important to establish a correct diagnosis both in severe and mild forms since JS might recur within the same family. © 2009 Wiley‐Liss, Inc.
Water as green oxidant: a highly selective conversion of organosilanes to silanols with water
Authors: Chauhan Bhanu P. S. , Sarkar Alok , Chauhan Moni , Roka Abhishek 
Published: July 2009

AbstractSelective hydrolytic oxidation of organohydrosilanes was achieved with water in the presence of Pt‐nanoparticle catalyst. The selectivity of the process was established by NMR analysis. In addition, various Pt‐based catalysts were screened to compare the activity and selectivity with Pt‐nanoparticles catalysis. The method was equally applicable to hydrosilanes bearing unsaturated functional groups, which led to corresponding silanols under mild reaction conditions without formation of any side products. Pt‐nanoparticle catalysis was studied in details using UV–vis, TEM and mercury poisoning experiments during the transformation. Copyright © 2009 John Wiley & Sons, Ltd.
Betti base‐derived tetradentate ligand: synthesis and application in copper‐catalyzed N‐arylation of imidazoles
Authors: Weng Bojie , Li Jing‐Hua 
Published: July 2009

AbstractBetti base‐derived tetradentate ligand 2 has been successfully designed and synthesized through the condensation of Betti base with glyoxal. Its application in N‐arylation of imidazoles has been investigated which opens a new field for application of Betti base derivatives in organic transformation. Copyright © 2009 John Wiley & Sons, Ltd.
Semicontinuous copolymerization of 80/20 wt % [2‐(acryloyloxy)ethyl]trimethyl ammonium chloride/acrylamide in an inverse microemulsion at high comonomer concentrations
Authors: Ochoa‐Gómez José R. , Escudero‐Sanz Francisco J. , Sasia Pedro M. , Río Francisca , Nieto‐Mestre Javier , Torrecilla Jesús , Katime Issa A. 
Published: July 2009

AbstractThe semicontinuous inverse microemulsion copolymerization of 80/20 wt % [2‐(acryloyloxy)ethyl]trimethylammonium chloride/acrylamide in an isoparaffin solvent at high comonomer concentrations (30–42 wt %) was studied with a mixture of nonionic surfactants (Crill 43 and Softanol 90) as the emulsifier and sodium metabisulfite as the initiator. The influence of the total comonomer concentration (TCC), emulsifier concentration (EC), hydrophilic–lipophilic balance (HLB), isopropyl alcohol (chain‐transfer agent) concentration (IPC), and crosslinking agent concentration (CAC) on the weight‐average molar mass (Mw), absolute viscosity (BV), and viscometric structuring index (VSI) of the obtained copolymers was analyzed. Mw and BV increased with TCC and HLB and decreased with EC. At the higher TCC, Mw decreased with IPC; meanwhile, at the lower TCC, Mw increased with IPC above 0.5 wt %. VSI increased with TCC, HLB, and IPC and decreased with EC. VSI increased dramatically with CAC, whereas BV showed a peak at the CAC of 10 ppm. In the absence of both chain‐transfer and crosslinking agents, Mw increased linearly with VSI, and this suggests that linear copolymers of very high Mw values cannot be obtained by inverse microemulsion copolymerization, at least for high TCCs. The results are explained in terms of both the collapsed state of the copolymer chains inside the latex particles and changes in the interface structure and composition. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009
On the toughness of photopolymerizable (meth)acrylate networks for biomedical applications
Authors: Smith Kathryn E. , Temenoff Johnna S. , Gall Ken 
Published: July 2009

AbstractPhotopolymerizable networks are being explored for a variety of biomedical applications because they can be formed in situ, rendering them useful in minimally invasive procedures. The purpose of this study was to establish fundamental relationships between toughness, network chemical structure, and testing temperature of photopolymerizable (meth)acrylate networks deformed in air and under hydrated conditions. Networks were formed by combining at least one monofunctional (meth)acrylate with a difunctional methacrylate, and weight ratios were adjusted to vary the degree of crosslinking, elastic modulus, and glass transition temperature (Tg). Stress–strain behavior and toughness were determined by performing tensile strain to failure tests at temperatures spanning the glassy and rubbery regimes of each network both in air and phosphate‐buffered saline. In air, all of the networks demonstrated a peak in toughness below the network's Tg. At an “equivalent” test temperature relative to Tg, crosslinking concentration and monomer chemistry influenced the toughness of each network. Apparent toughness is significantly altered in an aqueous environment, an effect driven by water absorption into the network causing the Tg to decrease. The results from this study provide the fundamental knowledge required to guide the development of tougher photopolymerizable networks for mechanically strenuous biomedical applications. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009
Alternating phenylenevinylene copolymers with dithienbenzothiadiazole moieties: Synthesis, photophysical, and photovoltaic properties
Authors: Mikroyannidis John A. , Stylianakis Minas M. , Dong Qingfeng , Pei Jianing , Tian Wenjing 
Published: July 2009

AbstractTwo new soluble alternating phenylenevinylene copolymers S and L which contained dithienbenzothiadiazole moieties were synthesized by Heck coupling. The repeating unit of L was longer than that of S and contained two additional phenylene rings and two cyano‐vinylene bonds. Both copolymers were stable up to about 350°C and afforded char yield of 52–66% at 800°C in N2. Their absorption spectra were broad and extended up to about 600 nm with a longer wavelength maximum at 447–502 nm and optical band gap of ∼ 2.0 eV. These copolymers emitted yellow light in solution with PL maximum at 551–580 nm and orange‐red light in thin film with PL maximum at 588–661 nm. The emission maximum of L was considerably red‐shifted relative to S. Photovoltaic cells based on S (or L) as donor and [6,6]‐phenyl C61‐butyric acid methyl ester as acceptor were investigated. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009
The effect of plasticizer and cellulose nanowhisker content on the dispersion and properties of cellulose acetate butyrate nanocomposites
Authors: Etang Ayuk Jackson , Mathew Aji P. , Oksman Kristiina 
Published: July 2009

AbstractWe studied the effects of plasticizer and cellulose nanowhisker content on the dispersion and properties of cellulose acetate butyrate (CAB)‐based bionanocomposites. The cellulose nanowhiskers in an aqueous medium were solvent‐exchanged to nonaqueous polar solvent (acetone) and used for nanocomposite processing by solution casting. The plasticized and unplasticized nanocomposites with 5 and 10 wt % cellulose nanowhisker content were prepared. Atomic force microscopy indicated nanoscale dispersion of whiskers in the CAB matrix. The dynamic mechanical analysis showed an increase in storage modulus with addition of cellulose nanowhiskers, especially above the glassy‐rubbery transition region. Thermogravimetric analysis showed an improvement in thermal stability with increased whisker content for both unplasticized and plasticized nanocomposites. The plasticized nanocomposites showed better transparency than the unplasticized composites, indicating a better dispersion of cellulose nanowhiskers in CAB, in the presence of a plasticizer. The dynamic mechanical properties and thermal stability increased, whereas transparency decreased with increased CNW content. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009
Toughened cycloaliphatic epoxy resin for demanding thermal applications and surface coatings
Authors: Tripathi Garima , Srivastava Deepak 
Published: July 2009

AbstractAn epoxy resin based on nonglycidyl ether and varying content of carboxyl‐terminated (poly)butadiene acrylonitrile copolymer was cured using an aromatic amine hardener. The ultimate aim of the study was to modify the brittle epoxy matrix by the liquid rubber to improve toughness characteristics. Fourier transform infrared spectroscopic analysis of the modified was performed to understand the structural transformations taking place during the uncured and cured stage of the modified systems. The decreasing trend in exothermal heat of reaction with increasing rubber content in the epoxy resin can be explained by the fact that the increase of carboxyl‐terminated butadiene acrylonitrile copolymer (CTBN) modifier might induce a high reactivity of the end groups with the epoxide ring and resulting shorter curing times and, hence, the faster curing process than the unmodified resin. Tensile strength, impact strength, and elongation‐at‐break behaviors of neat as well as modified networks have been studied to observe the effect of rubber modification. Blends sample exhibits better properties as compared to pure epoxy resin in terms of increase in impact strength and elongation‐at‐break of the casting and gloss, scratch hardness, adhesion, and flexibility of the film. The improvement in these properties indicate that the rubber‐modified resin would be more durable than the epoxy based on di glycidyl ether of bis‐phenol‐A and other epoxies. The films of coating based on epoxy with 15 wt % CTBN offered the maximum resistance toward different concentrations of acids, alkalies, and solvents as compared to the cured films of other blend samples. The thermal stability of the cycloaliphatic‐based epoxy resin was increased with the addition of 15 wt % CTBN in epoxy matrix. Cycloaliphatic‐based epoxy network modified with CTBN displayed two phase separated morphology with dispersed rubber globules in the matrix resin, i.e., they revealed the presence of two phase morphological features. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009
A novel polymeric biomaterial based on carboxymethylstarch and its application in controlled drug release
Authors: Sen Gautam , Pal Sagar 
Published: July 2009

AbstractThis study reports investigation of the sustained release behavior of a model drug (acetylsalicylic acid) from carboxymethylstarch (CMS) based matrix. CMS was prepared by incorporation of carboxymethyl groups in the starch moiety; by reacting starch with sodium salt of monochloro acetic acid in presence of sodium hydroxide. The in vitro drug release study was performed by United States Pharmacopeia rotating paddle method, at various pH. The rate of drug release from the above matrix was found to increase with increase in pH. Further, the release behavior of the drug from the CMS based matrix was found to be non‐Fickian, n value being between 0.80 and 0.85, suggesting that the release was controlled by a combination of tablet erosion and diffusion of the drug from the swollen matrix. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009
Mechanical and morphological properties of cellular NR/SBR vulcanizates under thermal and weathering ageing
Authors: Wimolmala Ekachai , Khongnual Kritsara , Sombatsompop Narongrit 
Published: July 2009

AbstractThe effects of addition of two chemical blowing agents in cellular rubber blend of natural rubber (NR) and styrene‐butadiene rubber (SBR) at a fixed blend ratio of 1 : 1 on cure characteristics, and mechanical and morphological properties were invesigated. The chemical blowing agents used in this work were Oxybis (benzene sulfonyl) hydrazide (OBSH) and Azo dicarbonamide (ADC). Three different fillers, fly ash (FA) particles, precipitated silica, carbon black (CB) at their optimum concentrations of 40 phr were used, the FA and silica particles being chemically treated by bis‐(3‐triethoxysilylpropyl) tetrasulphide. The results suggested that the overall cure time decreased with OBSH and ADC contents. The OBSH was more effective in cure‐acceleration of the NR/SBR blend than the ADC. The NR/SBR vulcanized foams produced by OBSH and ADC agents had closed‐cell structures. The specific density and mechanical properties of the blend tended to decrease with increasing blowing agent content. The CB gave NR/SBR foams with smaller cell size, better cell dispersion, and higher mechanical properties than the precipitated silica and FA particles. The heat ageing and weathering resulted in an increase in tensile modulus and hardness, but lowered the tensile strength, ultimate elongation and tear strength. The elastic recovery for cellular NR/SBR vulcanizates with FA was superior to that with CB and silica, the elastic recovery of the blends decreasing with blowing agent content. Resilience property was improved by the presence of gas phases. The optimum concentration of OBSH and ADC to be used for NR/SBR vulcanizates was 4 phr. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009
Physical properties of PLGA films during polymer degradation
Authors: Houchin M. L. , Topp E. M. 
Published: July 2009

AbstractThe rates of change of polymer properties (glass transition temperature, weight fraction sorbed water, and polymer molecular weight) were determined in poly (DL‐lactide‐co‐glycolide) films under accelerated storage conditions. Films were stored at 70°C and 95%, 75%, 60%, 45%, or 28% relative humidity. Weight fraction sorbed water was determined by thermogravimetric analysis, the glass transition temperature (Tgmix) of the polymer/water mixture by modulated temperature differential scanning calorimetry, and PLGA number‐average molecular weight (Mn) by size exclusion chromatography (SEC). Rates of moisture increase and Tgmix decrease were related to the decrease in PLGA Mn through a modification of the Gordon‐Taylor equation. Understanding the relative rates of polymer physical and chemical degradation will allow for improved design of PLGA formulations that control rates of drug delivery and preserve drug stability. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009
Effect of the processing techniques on the properties of ecocomposites based on vegetable oil‐derived Mater‐Bi® and wood flour
Authors: Scaffaro R. , Morreale M. , Re G. Lo , La Mantia F.P. 
Published: July 2009

AbstractPolymer composites based on biodegradable polymers and natural‐organic fillers are becoming more and more important because of their interesting properties in terms of environmental impact, manufacturing cost, and esthetic features. In particular, the use of biodegradable polymer matrices allows obtaining a full biodegradability. One of the most interesting biodegradable polymer families is the Mater‐Bi® one. In this work, we investigated the processability, the influence of different processing techniques, and the influence of the filler particle size on the properties of Mater‐Bi/wood flour composites. Injection molding caused a partial degradation of the macromolecular chains, whereas single‐screw extrusion followed by calendering and twin‐screw extrusion provoked an increase of the elastic modulus and of the viscosity. The use of wood flour led to a significant increase of the rigidity, whereas a reduction of the ductility was observed. Because of the very similar aspect ratios of the two different filler size classes, no dramatic differences in the properties were found. These results are useful in order predicting and setting up the optimum preparation and processing strategy for the production of fully biodegradable polymer composites. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009
Transparent conducting films based on nanofibrous polymeric membranes and single‐walled carbon nanotubes
Authors: Kim Yeseul , Kim Hun‐Sik , Bak Hyeonseong , Yun Young Soo , Cho Se Youn , Jin Hyoung‐Joon 
Published: July 2009

AbstractTransparent and electrically conducting films were fabricated using a novel and simple method in which single‐walled carbon nanotubes (SWCNTs) adsorbed onto bacterial cellulose membranes were embedded into a transparent polymer resin. The bacterial cellulose membranes consisting of numerous nanofibrils were found to play important roles in this process. The bacterial cellulose membranes impart optical transparency to the nanocomposites due to the size of the materials during the synthesis of the nanocomposite using a transparent polymer resin. The membranes play a secondary role as a template for depositing uniformly dispersed SWCNTs. This results in not only electrically conducting pathways but also prevents interference from the transmittance of optically transparent nanocomposites. Transparent conducting films with a wide range of transmittances and surface resistances could be obtained by controlling the immersion time and SWCNT concentration in the SWCNT dispersions. A transparent conducting film with a transmittance and surface resistance of 77.1% at 550 nm and 2.8 kΩ/sq, respectively, was fabricated from a 0.01 wt %. SWCNT dispersion for an immersion time of 3 h. In addition, the transparent conducting films were quite flexible and maintained their properties even after crumpling. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009