bluuebunny/crossref_metadata_2025_split huggingface dataset:
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions
Authors: Burgess Trent , Brown Natasha J. , Stark Zornitza , Bruno Damien L. , Oertel Ralph , Chong Belinda , Calabro Vanessa , Kornberg Andrew , Sanderson Christine , Kelly Julian , Howell Katherine B. , Savarirayan Ravi , Hinds Rupert , Greenway Anthea , Slater Howard R. , White Susan M. 
Published: November 2013

AbstractA recurrent proximal microdeletion at 15q25.2 with an approximate 1.5 megabase smallest region of overlap has recently been reported in seven patients and is proposed to be associated with congenital diaphragmatic hernia (CDH), mild to moderate cognitive deficit, and/or features consistent with Diamond–Blackfan anemia. We report on four further patients and define the core phenotypic features of individuals with this microdeletion to include mild to moderate developmental delay or intellectual disability, postnatal short stature, anemia, and cryptorchidism in males. CDH and structural organ malformations appear to be less frequent associations, as is venous thrombosis. There is no consistent facial dysmorphism. Features novel to our patient group include dextrocardia, obstructive sleep apnea, and cleft lip. © 2013 Wiley Periodicals, Inc.
Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome
Authors: Utine G.E. , Akpınar B. , Arslan U. , Kiper P.Ö.Ş. , Volkan‐Salancı B. , Alanay Y. , Aktaş D. , Haliloğlu G. , Oğuz K.K. , Boduroğlu K. , Alikaşifoğlu M. 
Published: November 2013

ABSTRACTFragile X syndrome (FXS) is the most common hereditary disorder of intellectual disability. Cognitive deficits involve executive function, attention, learning and memory. Advanced neuroimaging techniques are available, and 1H magnetic resonance spectroscopy (MRS) can be used as a complementary method to MR imaging to understand disease processes in brain, by in vivo demonstration of brain metabolites. MRS was performed in 13 male patients with FXS full mutation, and 13 age‐ and sex‐matched healthy controls. FXS diagnosis was based on clinical evaluation, followed by detection of FMR1 full mutation. Axial T2 TSE, sagittal T1 SE and coronal 3D MPRAGE images were obtained for both morphological imaging and voxel localization. Following evaluation of conventional images, multivoxel MRS (CSI) through supraventricular white matter and single voxel MRS (svs) with an intermediate echo time (TE:135 ms) from the cerebellar vermis were performed. Choline/Creatine (Cho/Cr), N‐acetyl aspartate/Creatine (NAA/Cr), and Choline/N‐acetyl aspartate (Cho/NAA) ratios were examined at right frontal (RF), left frontal (LF), right parietal (RP), left parietal (LP), and cerebellar vermian (C) white matter. Statistical analyses were done using t‐test and Mann–Whitney U tests. A statistically significant difference was observed in RP Cho/NAA ratio (cell membrane marker/neuroaxonal marker), FXS patients having lower levels than controls (P = 0.016). The results should be evaluated cautiously in parallel to consequences in brain metabolism leading to alterations in neurotransmitter levels, osmoregulation, energy metabolism and oxidative stress response described in animal models. MRS may serve to define a metabolic signature and biomarkers associated with FXS. © 2013 Wiley Periodicals, Inc.
A new case of a LUMBAR syndrome
Authors: Golabi Mahin , An Andrew C. , Lopez Christina , Lee Lauren , Kwong Michael , Hall Bryan D. 
Published: November 2013

AbstractLUMBAR syndrome (lower body congenital infantile hemangiomas and other skin defects; urogenital anomalies and ulceration; myelopathy; bony deformities; anorectal malformations and arterial anomalies; and rectal anomalies) is a rare association between infantile hemangiomas of the lower half of the body and regional congenital anomalies. Since 1986, 53 cases have been reported and no etiology has been identified. We report on the 54th case in a male infant and review the literature concerning the manifestations of the LUMBAR syndrome. © 2013 Wiley Periodicals, Inc.
A clinical study of patients with pericentromeric deletion and duplication within 16p12.2–p11.2
Authors: Okamoto Nobuhiko , Fujii Tatsuya , Tanaka Junko , Saito Kazumasa , Matsui Takeshi , Harada Naoki 
Published: November 2013

AbstractThe short arm of chromosome 16 is rich in segmental duplications that result in chromosomal rearrangements through non‐allelic homologous recombination. Several syndromes resulting from microdeletions or microduplications in this region have been reported. The chromosome 16p12.2–p11.2 deletion syndrome, 7.1‐ to 8.7‐Mb [OMIM#613604] is characterized by minor facial anomalies, feeding difficulties, a significant delay in speech development, and recurrent ear infections. Reciprocal duplications of 16p12.2–p11.2 have been reported in some patients with autism. We identified a patient with a 16p12.2–p11.2 deletion and a patient with a 16p12.2–p11.2 duplication using oligonucleotide SNP array. The patient with the deletion showed severe developmental delay without autism. The patient with the deletion shared clinical features with previously reported patients. The patient with the duplication showed mild developmental delay and autism. She had dysmorphic features including a round face, a large mouth, and relative macrocephaly. We reviewed the reports of the two syndromes and compared the clinical manifestations. The 16p12.2–p11.2 duplication syndrome is a new syndrome with autism spectral disorders and dysmorphic features. © 2013 Wiley Periodicals, Inc.
Aryne Cycloaddition with Stable Münchnones: Synthesis of 9,10‐Dihydro‐9,10‐epiminoanthracenes and Isoindoles
Authors: Fang Yuesi , Larock Richard C. , Shi Feng 
Published: November 2013

AbstractArynes react with stable münchnones in a [3+2] cycloaddition/[4+2] cycloreversion sequence under mild conditions. The reaction initially affords isoindoles, but in the presence of excess arynes, these isoindole intermediates readily undergo a further aryne [4+2] cycloaddition to afford 9,10‐dihydro‐9,10‐epiminoanthracenes in good to excellent yields. Controlling the reaction conditions to stop at the isoindole stage was attempted but proved difficult and limited. This chemistry further expands aryne dipolar cycloaddition chemistry with mesoionic substrates.
Controlled Trifluoromethylation Reactions of Alkynes through Visible‐Light Photoredox Catalysis
Authors: Iqbal Naeem , Jung Jaehun , Park Sehyun , Cho Eun Jin 
Published: November 2013

AbstractThe control of a reaction that can form multiple products is a highly attractive and challenging concept in synthetic chemistry. A set of valuable CF3‐containing molecules, namely trifluoromethylated alkenyl iodides, alkenes, and alkynes, were selectively generated from alkynes and CF3I by environmentally benign and efficient visible‐light photoredox catalysis. Subtle differences in the combination of catalyst, base, and solvent enabled the control of reactivity and selectivity for the reaction between an alkyne and CF3I.
Microstructure and properties of novel fluorescent pyrene functionalized PANI/P(VDF‐HFP) blend
Authors: Singh Veer Pal , Ramani Ramasubbu , Pal Vijay , Prakash Asit , Alam Sarfaraz 
Published: November 2013

ABSTRACTWe herein report the preparation and properties of the first polymer blend using pyrene functionalized polyaniline (pf‐PANI). The pf‐PANI has been synthesized and its blend has been prepared with the copolymer of vinylidene fluoride and hexafluoropropylene P(VDF‐HFP). The FTIR results reveal intermolecular interaction between the polar amide group of pf‐PANI and the polarized CH2 group of P(VDF‐HFP). The crystalline phase of PVDF of the copolymer revealed a transformation from α to β crystalline form after blending with pf‐PANI, as found from FTIR and XRD measurements. The calorimetric measurements together with DMA results revealed the blend is partially miscible. The SEM measurements showed that the pf‐PANI has been dispersed uniformly in the P(VDF‐HFP) matrix. The solution photoluminescence spectrum of the pf‐PANI exhibited emission in the purple–blue region and is slightly red shifted for the blend. The possible applications of this flexible fluorescent pf‐PANI/P(VDF‐HFP) has been suggested. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 40162.
Three Cobalt(II)‐Linked {P8W48} Network Assemblies: Syntheses, Structures, and Magnetic and Photocatalysis Properties
Authors: Jiao Yan‐Qing , Qin Chao , Wang Xin‐Long , Wang Chun‐Gang , Sun Chun‐Yi , Wang Hai‐Ning , Shao Kui‐Zhan , Su Zhong‐Min 
Published: November 2013

AbstractThree cobalt(II)‐containing tungstophosphate compounds, Na8Li8Co5[Co5.5(H2O)19P8W48.5O184]⋅60 H2O (1), K2Na4Li11Co5[Co7(H2O)28P8W48O184]Cl⋅ 59 H2O (2), and K2Na4LiCo11[Co8(H2O)32P8W48O184](CH3COO)4Cl⋅47 H2O (3), have been synthesized and characterized by IR spectroscopy, thermogravimetric analysis, elemental analyses, and magnetic measurements. The pH value impacts the formation of distinct cobalt‐linked frameworks. The cyclic cavity of the polyanion accommodates 5.5, 7, and 8 cobalt ions in 1, 2, and 3, respectively. In compounds 1 and 2, each {Co5.5P8W48} and {Co7P8W48} fragment links to four others through multiple {Co‐O‐W} coordination bonds to generate a two‐dimensional network. Compound 3 can be considered as a 3D network based on the {Co‐O‐W} coordination bonds and the {Co3(CH3COO)2(H2O)10} linkers between the {P8W48} fragments. Interestingly, acetate ligands have been employed to form the {Co3(CH3COO)2(H2O)10} unit, thereby inducing the construction of a 12‐connected framework. To the best of our knowledge, compound 3 contains the largest‐ever number of cobalt ions in a {P8W48}‐based polyoxometalate when counterions are taken into account and the {P8W48} unit shows the highest number of connections thanks to the carboxyl bridges. The UV/Vis diffuse reflectance spectra of these powder samples indicate that the corresponding well‐defined optical absorption associated with Eg can be assessed at 2.58, 2.48, and 2.73 eV and reveal the presence of an optical band gap. The photocatalytic H2 evolution activities of these {P8W48}‐based compounds are evaluated.
Palladium‐Catalyzed Aminocarbonylation of Aryl Iodides with Amides and N‐alkyl Anilines
Authors: Ran Longfei , Ren Zhi‐Hui , Wang Yao‐Yu , Guan Zheng‐Hui 
Published: November 2013

AbstractA novel and efficient palladium‐catalyzed aminocarbonylation of aryl iodides with amides and N‐alkyl anilines has been developed. The reaction tolerates a wide range of functional groups and is a reliable method for the rapid synthesis of a variety of valuable imides and tertiary benzanilides under an atmospheric pressure of CO.
Strong Stokes and Upconversion Luminescence from Ultrasmall Ln3+‐Doped BiF3 (Ln=Eu3+, Yb3+/Er3+) Nanoparticles Confined in a Polymer Matrix
Authors: Sarkar Shyam , Dash Armita , Mahalingam Venkataramanan 
Published: November 2013

AbstractHeavy metal fluorides like BiF3 as a host for lanthanide ions are of interest as bismuth is the only heavy metal that is nontoxic. In this work, we report the synthesis of highly water‐dispersible ultrasmall BiF3 nanoparticles about 6 nm in size within a poly(vinyl pyrrolidone) matrix by a hydrothermal method. Microscopy analysis reveals that the nanoparticles are well separated and confined within the polymer network. These nanoparticles were found to be excellent hosts for lanthanide (Ln3+) ions. Through suitable Ln3+ doping, BiF3 exhibits strong emissions in the visible region upon both UV and near infrared (NIR) excitations. The non‐toxicity of both bismuth and PVP can be advantageous for the potential use of BiF3 nanoparticles in drug delivery and bioimaging.
Motivating Employees towards Sustainable Behaviour
Authors: Temminck Elisha , Mearns Kathryn , Fruhen Laura 
Published: November 2013

AbstractWorkers engaging in voluntary and unrewarded environmental actions that go above and beyond their job requirements in an organizational setting can crucially contribute to a reduced environmental impact of organizations. This research investigates some of the factors that may contribute to the emergence of such organizational citizenship behaviour directed towards the environment (OCBE). The hypotheses predicted employees' concern for the environment, employees' perceived organizational support for environmental efforts and organizational commitment as antecedents of OCBE. Employees from two organizations (n = 547) completed an online survey. Controlling for organizational tenure, a significant relationship between (a) employees' concern for their environment and OCBE, (b) perceived organizational support for environment efforts and OCBE and (c) organizational commitment and OCBE were found. Furthermore, organizational commitment mediated the relationship between perceived organizational support for environmental efforts and OCBE, but not environmental concern. This study's insights into the factors that can drive employees' engagement in small, voluntary environmental actions at work can guide organizations wishing to encourage such behaviours. Copyright © 2013 John Wiley & Sons, Ltd and ERP Environment
An assessment of distance learning laboratory objectives for control engineering education
Authors: Stefanovic Miladin , Tadic Danijela , Nestic Snezana , Djordjevic Aleksandar 
Published: November 2013

ABSTRACTThe concept of web laboratories with remotely controlled laboratory set ups or virtual laboratories with different simulations have an important role in engineering education and training. This paper presents an evaluation of the fundamental objectives of laboratories for distance education, comparing the effectiveness of a remotely controlled approach versus simulations. The results and analysis show that students prefer remotely controlled laboratories compared to simulation labs. The results show that remotely controlled laboratories better fulfill objectives important for laboratory exercises. © 2013 Wiley Periodicals, Inc. Comput Appl Eng Educ 23:191–202, 2015; View this article online at wileyonlinelibrary.com/journal/cae; DOI 10.1002/cae.21589
Old dogs, new tricks – Rethinking country‐image studies
Authors: Bowe Jasha , Lockshin Larry , Lee Richard , Rungie Cam 
Published: November 2013

ABSTRACTIn international marketing, countries are often conceptualised as image constructs that have an influence on product image formation. Destination image and country of origin image are held to account for bias in consumer perceptions towards products because of the country from which they originate. Studies in these areas are typically underpinned by attitude‐based Likert or semantic differential scale methods, analysed using structural equation models. This paper achieves two key outcomes. Firstly, it adds to the small but growing body of literature that looks at the impact of tourism on post‐tour, export product evaluations. Secondly, it compares this traditional attitude‐based approach to country‐image studies with an alternative associative network theory approach, operationalised with a free‐choice, pick‐any survey method, which is popular within the branding literature. We compare the two methods by applying each to the same set of respondents to establish if the two methods are complementary, and find they produce different outcomes that could have critical implications for how country‐image studies are conceptualised and executed. Copyright © 2013 John Wiley & Sons, Ltd.
The impact of frequent social Internet consumption: Increased procrastination and lower life satisfaction
Authors: Hinsch Christian , Sheldon Kennon M. 
Published: November 2013

ABSTRACTOrganizations are frequently turning to social Internet applications in an effort to form bonds with consumers. However, little research has addressed the impact of social Internet consumption on the individual. Two studies of regular social Internet consumers (i.e., users of Facebook and socially connected online games) examined the effects of prompted usage reduction or cessation upon participants. In both studies, participants benefitted on average during the reduction/cessation period, reporting increased life satisfaction and decreased procrastination. The Facebooker versus gamer factor had remarkably few effects (i.e., results generalized across these two groups). Implications are discussed for both consumers and organizations involved in social Internet activities. Copyright © 2013 John Wiley & Sons, Ltd.
Balancing “We” and “I”: Self‐construal and an alternative approach to seeking uniqueness
Authors: Song Doori , Lee Joonghwa 
Published: November 2013

ABSTRACTInfluenced by the need for uniqueness theory, the current study proposes that expressing uniqueness via consumption offers a means for achieving a different sense of being without damaging the individual's sense of social assimilation. With respect to self‐construal, it is suggested that highly interdependent people satisfy their need for distinctiveness by selecting unique products; meanwhile, individuals with highly independent self‐construal seek out unique products to satisfy their need for uniqueness. Thus, this study demonstrates that, despite the fact that individuals with both types of self‐construal seek out unique products, the reason for seeking uniqueness differs according to the types of self‐construal. Copyright © 2013 John Wiley & Sons, Ltd.
Left atrial appendage occlusion in octogenarians
Authors: Gafoor Sameer , Franke Jennifer , Bertog Stefan , Boehm Patrick , Heuer Luisa , Gonzaga Maik , Bauer Janine , Braut Annkathrin , Lam Simon , Vaskelyte Laura , Hofmann Ilona , Sievert Horst 
Published: November 2013

ObjectivesTo determine the procedural safety, safety, and efficacy of left atrial appendage (LAA) occlusion in octogenarians.BackgroundElderly patients with atrial fibrillation (AF) often do not receive appropriate anticoagulation. LAA occlusion is an option for patients with AF and contraindications to anticoagulation. Not much is known about the procedural safety and clinical efficacy of LAA occlusion in the very elderly.MethodsA retrospective review of LAA cases at our institution between 2002 and 2013 in patients 80 years of age or older was performed. Demographic, echocardiographic, procedural, and clinical follow‐up data were collected.ResultsSeventy‐five cases were attempted in patients 80 years of age or older (average age 83.4 ± 2.8 years, 53.3% males). Hypertension, coronary artery disease, and heart failure were present in 96, 41.3, and 36%, respectively. Mean CHADS2 and CHA2DS‐VASc scores were 3.3 and 5.2. Devices used included the WATCHMAN, ACP, PLAATO, Lariat, and Coherex devices, which were attempted in 34.7, 36, 17.3, 5.3, and 5.3%, respectively. Overall procedural success, safety endpoint, and 1‐year device efficacy was 90.1, 3.9, and 97.4%, respectively.ConclusionLAA closure is a safe and efficacious method of stroke prevention in the very elderly with AF. © 2013 Wiley Periodicals, Inc.
Enhanced Catalytic Activity of Platinum Nanoparticles by Exfoliated Metal Hydroxide Nanosheets
Authors: Lee Jong Hyeon , Kim Hana , Lee Yeon Soo , Jung Duk‐Young 
Published: November 2013

AbstractA novel 2‐dimensional catalytic system was developed in which platinum nanoparticles (Pt NPs) were immobilized on exfoliated MgAl‐layered double hydroxide (LDH) nanosheets through an electrostatic self‐assembly between negatively charged Pt NPs and positively charged LDH nanosheets. The LDH nanosheets effectively provided the large double sides of hydroxide functionality to absorb the Pt NPs, as well as fast diffusion rates of the incoming reactants into catalyst surfaces. This new nanostructure improved the rate of reaction, turnover frequency and reaction durability of Pt NPs on LDH nanosheet without significant loss in conversion efficiencies for the reduction of p‐nitrophenol into p‐aminophenol by NaBH4, maintaining more than 97% of catalytic conversions compared to free Pt NPs as well as commercial Pt/C catalyst.
Kinetic Study of Catalytic Conversion of Cellulose to Sugar Alcohols under Low‐Pressure Hydrogen
Authors: Komanoya Tasuku , Kobayashi Hirokazu , Hara Kenji , Chun Wang‐Jae , Fukuoka Atsushi 
Published: November 2013

AbstractEfficient hydrolytic hydrogenation of cellulose to sugar alcohols under low H2 pressures has remained a challenge. This article deals with the conversion of cellulose by using a carbon‐supported Ru catalyst under H2 pressures as low as 0.7–0.9 MPa (absolute pressure at room temperature). Kinetic studies revealed that the Ru catalyst not only enhances the hydrolysis of cellulose to glucose and hydrogenation of glucose to sugar alcohols (sorbitol and mannitol), but also the degradation of sugar alcohols to C2–C6 polyols and gasses. The degradation path limits the total yield of sugar alcohols to less than 40 %. The yield of sugar alcohols is theoretically improved by increasing the ratio of the reaction rates of the cellulose hydrolysis, which is the rate‐determining step in the reaction, to the decomposition. Thus, a mix‐milling pretreatment of cellulose and the Ru catalyst together selectively accelerated the hydrolysis step and raised the yield up to 68 %, whereas the addition of acids in the cellulose conversion was less effective as a result of promotion of side‐reactions. These results demonstrate superior applicability of the mix‐milling treatment in the depolymerization of cellulose to its monomers.
Multi‐Objective Optimization of a Cross‐Flow Plate Heat Exchanger Using Entropy Generation Minimization
Authors: Babaelahi Mojtaba , Sadri Somayyeh , Sayyaadi Hoseyn 
Published: November 2013

AbstractMulti‐objective optimization of a cross‐flow plate fin heat exchanger (PFHE) by means of an entropy generation minimization technique is described. Entropy generation in the PFHE was separated into thermal and pressure entropy generation as two objective functions to be minimized simultaneously. The Pareto optimal frontier was obtained and a final optimal solution was selected. By implementing a decision‐making method, here the LINMAP method, the best trade‐off was achieved between thermal efficiency and pumping cost. This approach led to a configuration of the PFHE with lower magnitude of entropy generation, reduced pressure drop and pumping power, and lower operating and total cost in comparison to single‐objective optimization approaches.
Fabrication of Efficient NiO Photocathodes Prepared via RDS with Novel Routes of Substrate Processing for p‐Type Dye‐Sensitized Solar Cells
Authors: Awais Muhammad , Gibson Elizabeth , Vos Johannes G. , Dowling Denis P. , Hagfeldt Anders , Dini Danilo 
Published: November 2013

Abstractp‐type dye sensitized solar cells (p‐DSCs) derived from nickel oxide (NiO) photocathodes have been obtained via rapid discharge sintering (RDS) of parent metal oxide nanoparticles deposited onto differently treated substrates utilizing a plasma atmosphere with microwave radiation as heat source. This method produces NiO thin films (0.6<l<6 μm) with mesoporous features and large surface areas as required for efficient dye‐loading and high photocurrents. Erythrosine B (ERY) was used to sensitize the oxide in the visible spectrum. We have analyzed and compared the photoelectrochemical performances of the p‐DSCs assembled with the various types of NiO samples prepared by RDS techniques with different treatments of the supporting substrate prior to, or during, spray deposition of the NiO nanoparticles. The best photovoltaic performances were obtained when the transparent conducting substrate (TCS) was heated during spraying. We believe that this is because the charge transfer through the NiO film and the charge collection at the TCS/NiO film interface were the most efficient with this sample. To our knowledge, the photovoltaic performances reported here are the best achieved with the commercial dye ERY as sensitizer.