bluuebunny/crossref_metadata_2025_split huggingface dataset:
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: A new syndrome?
Authors: Lucci‐Cordisco Emanuela , Scommegna Salvatore , Orteschi Daniela , Galeazzi Daniela , Neri Giovanni , Boscherini Brunetto 
Published: September 2012

AbstractAnterior pituitary aplasia (APA) is a very rare cause of congenital‐onset multiple pituitary hormone deficiency (CO‐MPHD). We report on molecular analysis and clinical follow‐up of three previously reported cases of APA [Scommegna et al., 2004], who share a characteristic physical and neuropsychological profile. Mutation analysis of genes encoding transcription factors involved in pituitary development (PROP1, POUF1, HESX1, LHX3, and LHX4) did not demonstrate a any mutation. In order to identify the genetic cause underlying the phenotypes we performed an array‐based comparative genomic hybridization (array‐CGH), which showed a cryptic interstitial deletion of 9p (200 kb), including the TEK and MOBKL2B, in one patient. Although an apparently identical deletion was carried by the clinically normal father, we assumed that the patient's phenotype might be due to a recessive mutation in the other allele. However, sequence analysis of exons and splice junctions of these genes did not detect pathogenic or predisposing variants in the three patients. We suggest that the constellation of clinical signs in these patients constitutes a previously undescribed syndrome, whose genetic cause has yet to be identified. © 2012 Wiley Periodicals, Inc.
Atypical findings in three patients with Pai syndrome and literature review
Authors: Lederer Damien , Wilson Brian , Lefesvre Pierre , Poorten Vincent Vander , Kirkham Nigel , Mitra Dipayan , Verellen‐Dumoulin Christine , Devriendt Koenraad 
Published: September 2012

AbstractPai syndrome is a rare disorder characterized by congenital nasal or facial polyp, midline cleft lip, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report on three patients with Pai syndrome and atypical findings: temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true tracheal bronchus, and epilepsy. Thirty‐three cases of Pai syndrome have been described so far. We present a review of the previously reported cases and suggest modified diagnostic criteria for Pai syndrome. © 2012 Wiley Periodicals, Inc.
Grange syndrome: An identifiable cause of stroke in young adults
Authors: Volonghi Irene , Frigerio Michele , Mardighian Dikran , Gasparotti Roberto , Del Zotto Elisabetta , Giossi Alessia , Costa Paolo , Poli Loris , Jeannin Guido , Gregorini Gina A. , Padovani Alessandro , Pezzini Alessandro 
Published: September 2012

AbstractGrange syndrome is a disorder characterized by arterial occlusive disease, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. It was first described in four members of the same family and in two sporadic cases thereafter, suggesting the possibility of various patterns of inheritance. We report on the case of an 18‐year‐old female presenting with subarachnoid hemorrhage due to the rupture of a basilar artery aneurysm, and with distinctive systemic features including extensive vasculopathy, facial dysmorphisms and brachysyndactyly, consistent with the diagnosis of Grange syndrome. Although rare and not fully characterized, Grange syndrome should be included in the differential diagnosis of stroke at young age. © 2012 Wiley Periodicals, Inc.
Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: A novel phenotype
Authors: Shah Hitesh , Bens Susanne , Caliebe Almuth , Graham John M. , Girisha Katta Mohan 
Published: September 2012

AbstractWe report on a 14‐year‐old girl with growth deficiency, microcephaly, intellectual disability, distinctive dysmorphic features (bulbous nose with wide nasal base, hypotelorism, deeply set eyes, protruding cupped ears, and thick lower lip), cataract, pigmentary retinopathy, hypoplastic thorax, kyphoscoliosis, and unusual skeletal changes but without chromosomal imbalances detected by array‐CGH who probably represents a novel phenotype. © 2012 Wiley Periodicals, Inc.
Magnetic Fe3O4‐Au core‐shell nanostructures for surface enhanced Raman scattering
Authors: Wheeler D.A. , Adams S.A. , López‐Luke T. , Torres‐Castro A. , Zhang J.Z. 
Published: September 2012

AbstractThe synthesis, structural and optical characterization, and application of superparamagnetic and water‐dispersed Fe3O4‐Au core‐shell nanoparticles for surface enhanced Raman scattering (SERS) is reported. The structure of the nanoparticles was determined by scanning transmission electron microscopy (STEM) and high‐resolution transmission electron microscopy (HRTEM). STEM images of the Fe3O4‐Au core‐shell nanoparticles reveal an average diameter of 120 nm and a high degree of surface roughness. The nanoparticles, which display superparamagnetic properties due to the core Fe3O4 material, exhibit a visible surface plasmon resonance (SPR) peaked at 580 nm due to the outer gold shell. The nanoparticles are used as a substrate for surface enhanced Raman scattering (SERS) with rhodamine 6G (R6G) as a Raman reporter molecule. The SERS enhancement factor is estimated to be on the order of 106, which is ∼ 2 times larger than that of conventional gold nanoparticles (AuNPs) under similar conditions. Significantly, magnetically‐induced aggregation of the Fe3O4‐Au core‐shell nanoparticles substantially enhanced SERS activity compared to non‐magnetically‐aggregated Fe3O4‐Au nanoparticles. This is attributed to both increased scattering from the aggregates as well as “hot spots” due to more junction sites in the magnetically‐induced aggregates. The magnetic properties of the Fe3O4 core, coupled with the optical properties of the Au shell, make the Fe3O4‐Au nanoparticles unique for various potential applications including biological sensing and therapy.
Patterning of ultrasoft, agglutinative magnetorheological elastomers
Authors: Forster Eva , Mayer Matthias , Rabindranath Raman , Böse Holger , Schlunck Günther , Monkman Gareth J. , Shamonin Mikhail 
Published: September 2012

AbstractA low‐cost wax‐cast molding technique for structuring ultrasoft (Young's modulus ≤ 40 kPa), agglutinative magnetorheological elastomer (MRE) material is presented. MRE structures ranging from a few millimeters down to the micrometer range with highly reproducible results are possible. Semitransparent MREs are also fabricated and their surfaces modified accordingly. This method opens new possibilities for MREs in biomedical engineering and microfluidic applications. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
In vitro evaluation of efficacy of dihydroartemisinin‐loaded methoxy poly(ethylene glycol)/poly(l‐lactic acid) amphiphilic block copolymeric micelles
Authors: Lu Wen‐fen , Chen Shui‐fang , Wen Zhi‐yong , Li Qiang , Chen Jian‐hai 
Published: September 2012

AbstractDihydroartemisinin (DHA)‐loaded methoxy poly(ethylene glycol)/poly(l‐lactic acid) (mPEG5000—PLLA3200) amphiphilic block copolymeric micelles (DHA‐CM) have been prepared using modified solvent evaporation method. Physicochemical properties of DHA‐CM were investigated by using dynamic light scattering, transmission electron microscopy, high‐performance liquid chromatography, and Fourier transform infrared. Polymers formed stable, spherical, and worm‐like micelles with mean sizes smaller than 130 nm. In vitro release experiments revealed that DHA‐CM provided a more solubilizing effect than DHA suspension; in addition, it was showed that drug release profiles highly depended on pH values of dissolution media. Various types of lyoprotectants were tested to improve the redispersion performance of the freeze‐dried products. 3‐(4, 5‐dimethyl‐ thiazol‐2‐yl)‐2, 5‐diphenyl tetrazolium bromide assay was used to evaluate the cytotoxicity of micellar solutions of freeze‐dried DHA‐CM. The results showed that the IC50 values of DHA‐CM and DHA suspension for KB cell lines were 18.70 and 24.55 μM, respectively. However, DHA‐CM had little cytotoxicity for L02 cell lines. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Taxi services with search frictions and congestion externalities
Authors: Yang Teng , Yang Hai , Wong Sze Chun 
Published: September 2012

SUMMARYBuilt upon the previous studies, this paper incorporates both bilateral taxi–customer search frictions and congestion externalities into the economic analyses of the equilibrium properties of taxi markets. We take account of congestion externalities by adopting a realistic distance‐based and delay‐based taxi fare structure. We first investigate comparative static effects of regulatory variables of taxi fare and fleet size on the market and then examine the properties of the Pareto‐efficient solutions for simultaneous maximization of social welfare and taxi profit in the congested market. Copyright © 2012 John Wiley & Sons, Ltd.
Staphylococcal display for combinatorial protein engineering of a head‐to‐tail affibody dimer binding the Alzheimer amyloid‐β peptide
Authors: Lindberg Hanna , Johansson Anna , Härd Torleif , Ståhl Stefan , Löfblom John 
Published: September 2012

AbstractWe have previously generated an affibody molecule for the disease‐associated amyloid beta (Aβ) peptide, which has been shown to inhibit the formation of various Aβ aggregates and revert the neurotoxicity of Aβ in a fruit fly model of Alzheimer's disease. In this study, we have investigated a new bacterial display system for combinatorial protein engineering of the Aβ‐binder as a head‐to‐tail dimeric construct for future optimization efforts, e.g. affinity maturation. Using the bacterial display platform, we have: (i) demonstrated functional expression of the dimeric binder on the cell surface, (ii) determined the affinity and investigated the pH sensitivity of the interaction, (iii) demonstrated the importance of an intramolecular disulfide bond through selections from a cell‐displayed combinatorial library, as well as (iv) investigated the effects from rational truncation of the N‐terminal part of the affibody molecule on surface expression level and Aβ binding. Overall, the detailed engineering and characterization of this promising Aβ‐specific affibody molecule have yielded valuable insights concerning its unusual binding mechanism. The results also demonstrated that our bacterial display system is a suitable technology for future protein engineering and characterization efforts of homo‐ or heterodimeric affinity proteins.
Method development and validation for the quantification of dasatinib, erlotinib, gefitinib, imatinib, lapatinib, nilotinib, sorafenib and sunitinib in human plasma by liquid chromatography coupled with tandem mass spectrometry
Authors: Lankheet N. A. G. , Hillebrand M. J. X. , Rosing H. , Schellens J. H. M. , Beijnen J. H. , Huitema A. D. R. 
Published: September 2012

ABSTRACTTo support pharmacokinetic‐guided dosing in individual patients, a fast and accurate method for simultaneous determination of anticancer tyrosine kinase inhibitors (TKIs) dasatinib, erlotinib, gefitinib, imatinib, lapatinib, nilotinib, sorafenib and sunitinib in human plasma was developed using high‐performance liquid chromatography and detection with tandem mass spectrometry (HPLC‐MS/MS). Stable isotopically labeled compounds of the eight different TKIs were used as internal standards. Plasma proteins were precipitated and an aliquot of supernatant was directly injected onto a reversed phase chromatography system consisting of a Gemini C18 column (50 × 2.0 mm i.d., 5.0 µm particle size) and then compounds were eluted with a gradient. The outlet of the column was connected to a triple quadrupole mass spectrometer with electrospray interface. Ions were detected in the positive multiple reaction monitoring mode. This method was validated over a linear range from 20.0 to 10,000 ng/mL for erlotinib, gefitinib, imatinib, lapatinib, nilotinib and sorafenib, and from 5.00 to 2500 ng/mL for dasatinib and sunitinib. Results from the validation study demonstrated good intra‐ and inter‐assay accuracy (<13.1%) and precision (10.0%) for all analytes. This method was successfully applied for routine therapeutic drug monitoring purposes in patients treated with the investigated TKIs. Copyright © 2012 John Wiley & Sons, Ltd.
Reactive Polymer as a Versatile Toolbox for Construction of Multifunctional Superparamagnetic Nanocomposites
Authors: Shen Ying , Zhao Lingzhi , Qi Li , Qiao Juan , Mao Lanqun , Chen Yi 
Published: September 2012

AbstractThe development of magnetic nanoparticles with multiple functions has been an ever‐growing field because of their diverse applications in drug delivery, biosensing, cell labeling, and so on. In this study, a facile method was developed to construct multifunctional magnetic nanocomposites. The approach is based on the use of poly(glycidyl methacrylate), PGMA, with numerous epoxy groups as reactive polymer to combine with fluorescent dye, the surface of magnetic nanoparticles, and targeting ligands directly without expatiatory functionality design. The resultant nanocomposites with good superparamagnetic and fluorescent properties could be exploited for bioimaging. Moreover, after conjugation with a model protein, namely, transferrin, which specifically targets cells overexpressing transferrin receptors, the nanocomposites could be used selectively to recognize Hela cells in comparison with nonconjugated ones. These results indicate that the newly designed magnetic nanocomposites with PGMA as functional polymer could serve as a novel versatile platform to conjugate with various molecules for construction of diverse multifunctional magnetic nanocomposites to meet different requirements and potential uses in nanomedicine and biological chemistry.
Design and analysis of a hard real‐time garbage collector for a Java chip multi‐processor
Authors: Puffitsch Wolfgang 
Published: September 2012

SUMMARYGarbage collection is a well‐known technique to increase program safety and developer productivity. Within the past few years, it has also become feasible for uniprocessor hard real‐time systems. However, garbage collection for multi‐processors does not yet meet the requirements of hard real‐time systems. In this paper, we present a hard real‐time garbage collector for a Java chip multi‐processor that provides non‐disruptive and analyzable behavior. For retrieving the references in local variables of threads, we propose a protocol that minimizes disruptions for high‐priority tasks while still providing good bounds on the time until stack scanning finishes. Also, we developed a hardware unit that enables transparent, preemptible copying of objects, which eliminates the need to block tasks while copying objects. Evaluation of the hardware shows that the copy unit introduces only little overhead and does not limit the critical path. Analyses for different aspects of the system are presented, which indicate that comprehensive analysis of the presented system is indeed possible. Measurements resulted in release jitter for high‐priority tasks of 362 μs or less on an embedded multi‐processor with eight cores clocked at 100 MHz. This indicates that with the proposed garbage collector, high scheduling quality and garbage collection do not contradict each other on chip multi‐processors. Copyright © 2012 John Wiley & Sons, Ltd.
Wake Formation and Wake Field Effects in Complex Plasmas
Authors: Block D. , Carstensen J. , Ludwig P. , Miloch W.J. , Greiner F. , Piel A. , Bonitz M. , Melzer A. 
Published: September 2012

AbstractThe formation of wake fields downstream of an objects in flowing plasmas has strong implications on structure, stability and dynamics of complex plasmas. This paper aims at putting recent experimental investigations and different theoretical approaches on charging of dust grains, stability of dust grain arrangements and the dynamical properties of complex plasmas into perspective. Further, the combination of wake fields and grain confinement is discussed, which is the generic situation in complex plasmas. It is shown that in spherical traps the resulting competition of trap geometry and vertical alignment leads to a sophisticated mixture of nested shell and string order (© 2012 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Plasma Chemical Study of a RF Discharge Containing Aluminum Tri‐Isopropoxide Using MIR Absorption Spectroscopy Based on External‐Cavity Quantum Cascade Lasers
Authors: Lopatik D. , Niemietz S. , Fröhlich M. , Röpcke J. , Kersten H. 
Published: September 2012

AbstractIn Ar and Ar/N2 RF plasmas with admixtures of aluminum tri‐isopropoxide (ATI) the fragmentation of this metal‐organic precursor has been studied by means of infrared absorption spectroscopy (IR‐AS) using an external‐cavity quantum cascade laser (EC‐QCL) arrangement. The experiments were performed in an asymmetric capacitively coupled reactor at a frequency of f = 13.56 MHz and a pressure of up to p = 10 Pa. The discharge power was in the range of P = 40 – 100 W. Using EC‐QCLAS the evolution of the concentrations of six stable molecules, CH4, C2H2, C2H4, H2O, HCN and HNO3, has been monitored in the plasma. The concentrations of these plasma chemical products were found to be in the range of about 7 × 1012 – 2 × 1014 molecules cm–3 (© 2012 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Room‐Temperature Suzuki–Miyaura Coupling of Heteroaryl Chlorides and Tosylates
Authors: Yang Junfeng , Liu Sijia , Zheng Jian‐Feng , Zhou Jianrong (Steve) 
Published: September 2012

AbstractSuzuki–Miyaura coupling of heteroaryls is an important method for the preparation of compound libraries for medicinal chemistry and materials research. Although many catalysts have been developed, none of them have been generally applicable to the coupling reactions of heteroaryl chlorides and tosylates at room temperature. We discovered that a catalyst combination of Pd(OAc)2 and XPhos (2‐dicyclohexylphosphanyl‐2′,4′,6′‐triisopropylbiphenyl) could efficiently catalyze these couplings. Besides the choice of catalyst, the use of hydroxide bases in an aqueous alcoholic solvent was essential for fast couplings. These conditions promoted fast release of active catalyst (XPhos)Pd0, and accelerated the transmetalation in the catalytic cycle. Most of the major families of heteroaryl chlorides (31 examples) and tosylates (17 examples) reached full conversion within minutes to hours at room temperature. The method could be easily scaled up for gram‐scale synthesis. Furthermore, we examined the relative reactivity of coupling partners in whole reactions. Electron‐rich heteroaryl chlorides and tosylates reacted more slowly than electron‐deficient ones, in the order of indole, pyrrole < furan, thiophene < pyridine and other six‐membered‐ring azines. For heteroarylboronic acids, the reactivity ranking was reversed: indole, pyrrole > furan, thiophene > pyridine. Similarly, electron‐deficient arylboronic acids were less reactive than electron‐neutral and electron‐rich ones. The reactivity trends from this study can help to choose appropriate coupling partners for Suzuki reactions.
Stereoselective Synthesis and In Vivo Evaluation of the Analgesic Activity of Polysubstituted Bispidines
Authors: Plas Aurélie , Marchand Fabien , Eschalier Alain , Troin Yves , Chalard Pierre 
Published: September 2012

AbstractHetero‐Michael addition on a chiral β′‐amino α,β‐unsaturated ketone gave, after some structural modifications, β,β′‐diamino ketals. Mannich‐type reactions of these diamines with an aldehyde led, with high diastereoselectivity, to trisubstituted piperidines. Another highly stereoselective Mannich cyclization, with an N‐acyliminium ion generated in situ from the corresponding imide, allowed the preparation of original polycyclic bispidine derivatives. The antinociceptive effect of the three compounds prepared was evaluated in vivo by using the writhing test. If the biological results for the analgesic properties were disappointing, compared with the bispidine HZ2, which has a high affinity for opioid receptors, the modularity of the approach offered the possibility of introducing many substituents for new applications, which was promising because the bispidine core has been described to have many different activities.
Regional study on structural dynamic property of buildings in China
Authors: Shan Jiazeng , Shi Weixing , Wang Jin 
Published: September 2012

SUMMARYFull‐scale in situ ambient vibration tests have been performed in different regions of China since 2008. Reliable data on 35 buildings in the Sichuan province and 18 buildings in Shanghai have been used for identifying the structural dynamic properties. Every building was tested twice, at time intervals of 1 to 2 years. This paper first describes the statistical analysis results of the measured records and then the time–frequency domain analysis on dynamic responses of a specific monitored building subjected to strong motion. Furthermore, the estimated dynamic characteristics of the buildings are presented. The damping ratio shows a period‐dependent characteristic, and the natural periods of buildings in Sichuan shifted after 2 years. Subsequent discussion on the natural period change phenomenon reveals that the natural period changes are affected by a number of factors, including story number, construction year, loading history, and observation time intervals. The long‐term time effects on concrete, the self‐healing ability of cracked concrete, and the change in soil condition are discussed to explain the natural period wandering. Copyright © 2012 John Wiley & Sons, Ltd.
Reduced connexin43 expression correlates with c‐Src activation, proliferation, and glucose uptake in reactive astrocytes after an excitotoxic insult
Authors: Gangoso Ester , Ezan Pascal , Valle‐Casuso José Carlos , Herrero‐González Sandra , Koulakoff Annette , Medina Jose M. , Giaume Christian , Tabernero Arantxa 
Published: September 2012

AbstractIn diverse brain pathologies, astrocytes become reactive and undergo profound phenotypic changes. Connexin43 (Cx43), the main gap junction channel‐forming protein in astrocytes, is one of the proteins modified in reactive astrocytes. Downregulation of Cx43 in cultured astrocytes activates c‐Src, promotes proliferation, and increases the rate of glucose uptake; however, so far there have been no studies examining whether this cascade of events takes place in reactive astrocytes. In this work, we analyzed this pathway after a cortical lesion induced by a kainic acid injection. As previously described, astrocytes reacted to the lesion with an increase in glial fibrillary acidic protein and a decrease in Cx43 expression. Some of these reactive astrocytes proliferated, as estimated by bromodeoxyuridine incorporation and cyclins D1 and D3 upregulation. In addition, the expression of the glucose transporter GLUT‐3 and the enzyme responsible for glucose phosphorylation, Type II hexokinase (Hx‐2), were induced in reactive astrocytes, suggesting an increased glucose uptake. Previous in vitro studies reported that c‐Src is the link between Cx43 and glucose uptake and proliferation in astrocytes. Here, we found that c‐Src activity increased in the lesioned area. c‐Src activation and Cx43 downregulation preceded the peak of Hx‐2 and cyclin D3 expression, suggesting that c‐Src could mediate the effect of Cx43 on glucose uptake and proliferation in reactive astrocytes after an excitotoxic insult. Interestingly, we identify c‐Src, GLUT‐3, and Hx‐2 in the signaling mechanisms involved in the reaction of astroglia to injury. Altogether these data contribute to identify new therapeutical targets to enhance astrocyte neuroprotective activities. © 2012 Wiley Periodicals, Inc.