bluuebunny/crossref_metadata_2025_split huggingface dataset:
Potocki–Shaffer syndrome: Comprehensive clinical assessment, review of the literature, and proposals for medical management
Authors: Swarr Daniel T. , Bloom Douglas , Lewis Richard Alan , Elenberg Ewa , Friedman Ellen M. , Glotzbach Caron , Wissman Scott D. , Shaffer Lisa G. , Potocki Lorraine 
Published: February 2010

AbstractPotocki–Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p11.2p12 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina. In this study, six patients with the Potocki–Shaffer syndrome were identified and evaluated using a multidisciplinary protocol that included assessments by a geneticist, ophthalmologist, otolaryngologist, orthopedist, nephrologist, audiologist, and neuropsychologist. Diagnostic studies included skeletal survey, magnetic resonance imaging of the brain, renal ultrasound, complete blood count, comprehensive metabolic panel, thyroid studies, and urinalysis. Using array comparative genomic hybridization, we further characterized the deletion in five of these patients. The results of these evaluations were combined with a comprehensive review of reported cases. Our data highlight the characteristic facial features, biparietal foramina, moderate‐to‐severe developmental delay and intellectual disability, myopia and strabismus, and multiple exostoses seen with this disorder. We also identify for the first time an association of Potocki–Shaffer syndrome with sensorineural hearing loss and autistic behaviors. Finally, we provide recommendations for the health maintenance of patients with Potocki–Shaffer syndrome. © 2010 Wiley‐Liss, Inc.
FOXE3 plays a significant role in autosomal recessive microphthalmia
Authors: Reis Linda M. , Tyler Rebecca C. , Schneider Adele , Bardakjian Tanya , Stoler Joan M. , Melancon Serge B. , Semina Elena V. 
Published: February 2010

AbstractFOXE3 forkhead transcription factor is essential to lens development in vertebrates. The eyes of Foxe3/foxe3‐deficient mice and zebrafish fail to develop normally. In humans, autosomal dominant and recessive mutations in FOXE3 have been associated with variable phenotypes including anterior segment anomalies, cataract, and microphthalmia. We undertook sequencing of FOXE3 in 116 probands with a spectrum of ocular defects ranging from anterior segment dysgenesis and cataract to anophthalmia/microphthalmia. Recessive mutations in FOXE3 were found in four of 26 probands affected with bilateral microphthalmia (15% of all bilateral microphthalmia and 100% of consanguineous families with this phenotype). FOXE3‐positive microphthalmia was accompanied by aphakia and/or corneal defects; no other associated systemic anomalies were observed in FOXE3‐positive families. The previously reported c.720C > A (p.C240X) nonsense mutation was identified in two additional families in our sample and therefore appears to be recurrent, now reported in three independent microphthalmia families of varied ethnic backgrounds. Several missense variants were identified at varying frequencies in patient and control groups with some apparently being race‐specific, which underscores the importance of utilizing race/ethnicity‐matched control populations in evaluating the relevance of genetic screening results. In conclusion, FOXE3 mutations represent an important cause of nonsyndromic autosomal recessive bilateral microphthalmia. © 2010 Wiley‐Liss, Inc.
Enantioselective alkynylation of aldehydes catalyzed by a camphor sulfonylated amino alcohols titanium(IV) catalyst system
Authors: Gou Shaohua , Ye Zhongbin , Huang Zhiyu , Ma Xiping 
Published: February 2010

AbstractA new titanium(IV) complex has been developed for the effective enantioselective alkynylation of phenylacetylene addition to aldehydes. The titanium(IV) complex was readily prepared in situ from (R)‐C‐(7,7‐dimethyl‐2‐oxo‐bicyclo[2.2.1]hept‐1‐yl)‐(1R,2S)‐N‐(2‐hydroxy‐1,2‐diphenyl‐ethyl)‐methanesulfonamide (1h) and tetraisopropyl titanate [Ti(i‐OPr)4]. A variety of aromatic aldehydes and α,β‐unsaturated aldehydes were found to be suitable substrates in the presence of the camphor sulfonylated amino alcohol titanium(IV) complex [10 mol% 1h, 40 mol% Ti(i‐OPr)4]. The desired propargylic alcohols were afforded with high isolated yields (up to 90%) and moderate enantioselectivities (up to 65% ee) under mild conditions. Copyright © 2010 John Wiley & Sons, Ltd.
Hans van Houwelingen and the Art of Summing up
Authors: Senn Stephen 
Published: February 2010

AbstractSome personal remarks about Hans van Houwelingen's approach to biostatistics in general are followed by a discussion of his article with Koos Zwinderman and Theo Stijnen outlining a bivariate approach to meta‐analysis. It is concluded that this is more radical than many may realise in that it permits inter‐trial information to be recovered. This has some advantages but in theory opens the door to bias. It is concluded that in practice the size of this bias is likely to be small. I end with some further personal remarks to Hans.
Sentinel lymph node biopsy in breast cancer guided by indocyanine green fluorescence (Br J Surg 2009; 96: 1289–1294)
Authors: Chiu C-C 
Published: February 2010

Abstract
The Editors welcome topical correspondence from readers relating to articles published in the Journal. Responses should be sent electronically via the BJS website (www.bjs.co.uk). All letters will be reviewed and, if approved, appear on the website. A selection of these will be edited and published in the Journal. Letters must be no more than 250 words in length.
A 93Nb Solid‐State NMR and Density Functional Theory Study of Four‐ and Six‐Coordinate Niobate Systems
Authors: Hanna John V. , Pike Kevin J. , Charpentier Thibault , Kemp Thomas F. , Smith Mark E. , Lucier Bryan E. G. , Schurko Robert W. , Cahill Lindsay S. 
Published: February 2010

AbstractA variable B0 field static (broadline) NMR study of a large suite of niobate materials has enabled the elucidation of high‐precision measurement of 93Nb NMR interaction parameters such as the isotropic chemical shift (δiso), quadrupole coupling constant and asymmetry parameter (CQ and ηQ), chemical shift span/anisotropy and skew/asymmetry (Ω/Δδ and κ/ηδ) and Euler angles (α, β, γ) describing the relative orientation of the quadrupolar and chemical shift tensorial frames. These measurements have been augmented with ab initio DFT calculations by using WIEN2k and NMR‐CASTEP codes, which corroborate these reported values. Unlike previous assertions made about the inability to detect CSA (chemical shift anisotropy) contributions from NbV in most oxo environments, this study emphasises that a thorough variable B0 approach coupled with the VOCS (variable offset cumulative spectroscopy) technique for the acquisition of undistorted broad (−1/2↔+1/2) central transition resonances facilitates the unambiguous observation of both quadrupolar and CSA contributions within these 93Nb broadline data. These measurements reveal that the 93Nb electric field gradient tensor is a particularly sensitive measure of the immediate and extended environments of the NbV positions, with CQ values in the 0 to >80 MHz range being measured; similarly, the δiso (covering an approximately 250 ppm range) and Ω values (covering a 0 to approximately 800 ppm range) characteristic of these niobate systems are also sensitive to structural disposition. However, their systematic rationalisation in terms of the NbO bond angles and distances defining the immediate NbV oxo environment is complicated by longer‐range influences that usually involve other heavy elements comprising the structure. It has also been established in this study that the best computational method(s) of analysis for the 93Nb NMR interaction parameters generated here are the all‐electron WIEN2k and the gauge included projector augmented wave (GIPAW) NMR‐CASTEP DFT approaches, which account for the short‐ and long‐range symmetries, periodicities and interaction‐potential characteristics for all elements (and particularly the heavy elements) in comparison with Gaussian 03 methods, which focus on terminated portions of the total structure.
Biaryl Phosphite–Oxazoline Ligands from the Chiral Pool: Highly Efficient Modular Ligands for the Asymmetric Pd‐Catalyzed Heck Reaction
Authors: Mazuela Javier , Pàmies Oscar , Diéguez Montserrat 
Published: February 2010

AbstractA highly modular library of readily available phosphite–oxazoline ligands L1–L21 a–g was successfully applied in the asymmetric Pd‐catalyzed Heck reactions of several substrates and triflates under thermal and microwave conditions. This ligand library contains three main ligand structures that have been designed by systematic modification of one of the most successful ligand families developed for this process. As well as studying the effect of these three ligand structures on the catalytic performance, we also evaluated the effect of modifying several ligand parameters in these ligand structures. The effectiveness of these ligands at transferring the chiral information into the product can be tuned by correctly choosing the ligand components. Both enantiomers of the Heck coupling products were obtained in excellent activities (conversion: >100 % in 10 min), regioselectivities (>99 %) and enantioselectivities (>99 % ee). Under microwave‐irradiation conditions, the reaction times were considerably shorter (full conversion was achieved in a few minutes) and the regio‐ and enantioselectivities were still excellent.
Studying the Origin of the Antiferromagnetic to Spin‐Canting Transition in the β‐p‐NCC6F4CNSSN.Molecular Magnet
Authors: Deumal Mercè , Rawson Jeremy M. , Goeta Andrés E. , Howard Judith A. K. , Copley Royston C. B. , Robb Michael A. , Novoa Juan J. 
Published: February 2010

AbstractThe crystal structure of the spin‐canted antiferromagnet β‐p‐NCC6F4CNSSN.at 12 K (reported in this work) was found to adopt the same orthorhombic space group as that previously determined at 160 K. The change in the magnetic properties of these two crystal structures has been rigorously studied by applying a first‐principlesbottom‐upprocedure above and below the magnetic transition temperature (36 K). Calculations of the magnetic exchange pathways on the 160 K structure reveal only one significant exchange coupling (J(d1)=−33.8 cm−1), which generates a three‐dimensional diamond‐like magnetic topology within the crystal. The computed magnetic susceptibility,χ(T), which was determined by using this magnetic topology, quantitatively reproduces the experimental features observed above 36 K. Owing to the anisotropic contraction of the crystal lattice, both the geometry of the intermolecular contacts at 12 K and the microscopicJABradical–radical magnetic interactions change: theJ(d1) radical–radical interaction becomes even more antiferromagnetic (−43.2 cm−1) and two additional ferromagnetic interactions appear (+7.6 and +7.3 cm−1). Consequently, the magnetic topologies of the 12 and 160 K structures differ: the 12 K magnetic topology exhibits two ferromagnetic sublattices that are antiferromagnetically coupled. Theχ(T) curve, computed below 36 K at the limit of zero magnetic field by using the 12 K magnetic topology, reproduces the shape of the residual magnetic susceptibility (having subtracted the contribution to the magnetization arising from spin canting). The evolution of these two ferromagneticJABcontributions explains the change in the slope of the residual magnetic susceptibility in the low‐temperature region.
Die Konfiguration bei Substitutionsreaktionen. Chirale Synthesen
Authors: Cuny Eckehard , Jaeger Rolf 
Published: February 2010

AbstractAn heutzutage anzuwendende pharmazeutische Produkte werden hohe Anforderungen gestellt, wenn sie physiologisch adaptabel sein sollen. Anhand der hier vorgestellten Synthesemethoden wird aufgezeigt, wie die notwendigen Enantiomerenreinheiten chemisch erreicht werden können. Die meisten dieser Reaktionen verlaufen nach einem SN2‐Mechanismus. Die Mechanismen des Isoharnstoff‐Verfahrens, der Mitsunobu‐Inversion und des Cäsium‐Effektes werden dargestellt bzw. erläutert. Die Verfahren werden vergleichend bewertet.
Schwermetalle in der Umwelt. Auf Ultra‐Spurensuche
Authors: Krachler Michael 
Published: February 2010

AbstractDie vertrauensvolle Bestimmung von (Ultra‐)Spurenelementen in Umweltproben ist alles andere als trivial. Spurenelementanalysen extrem sauberer Umweltproben (Grundwasser, Schnee, Eis) erfordern ein Höchstmaß an Sauberkeit bei der Probennahme und ‐vorbereitung, die nachweis stärksten Analysenverfahren, sowie hochmotiviertes und erfahrenes Laborpersonal. Nur durch das perfekte Zusammenspiel aller dieser Komponenten können mithilfe moderner Analysenstrategien Fragen von gesellschaftspolitischer Relevanz erfolgreich beantwortet werden. Somit erlaubt z.B. der Blick zurück in die Vergangenheit – durch die Analyse alter Eisbohrkerne – die gegenwärtige Schwermetallbelastung der Umwelt in Perspektive zu setzen und zukünftige Entwicklungen besser einschätzen zu können. Leitungs‐ oder Mineralwasser? Was ist besser? Auch hier eröffnet die moderne Ultraspurenanalytik neue Perspektiven.
Medaillengewinne für Deutschland
Authors: Gehring Timo 
Published: February 2010

Abstract250 Schüler aus 64 Ländern trafen sich im vergangenen Juli in Cambridge zur 41. Internationalen Chemie‐Olympiade (IChO). Die vierköpfige deutsche Schülermannschaft erzielte mit 1x Gold, 2x Silber und 1x Bronze ein hervorragendes Ergebnis.
Gangschaltung für die Speicherung solarer Energie
Authors: Walla Peter Jomo 
Published: February 2010

AbstractDie meisten von uns Mitteleuropäern wissen: Bei höheren Sonneneinstrahlungen müssen wir uns vor Sonnenbrand schützen, sonst kann dies vor allem für die hellhäutigeren unter uns sehr unan genehme Folgen haben. Aber wussten Sie, dass auch Pflanzen sich unbedingt vor zu starker Sonnenstrahlung schützen müssen?
Scheduling time‐critical requests for multiple data objects in on‐demand broadcast
Authors: Lee Victor C. S. , Liu Kai 
Published: February 2010

AbstractOn‐demand broadcast is an effective data dissemination approach in mobile computing environments. Most of the recent studies on on‐demand data broadcast assume that clients request only a single‐data‐object at a time. This assumption may not be practical for the increasingly sophisticated mobile applications. In this paper, we investigate the scheduling problem of time‐critical requests for multiple data objects in on‐demand broadcast environments and observe that existing scheduling algorithms designed for single‐data‐object requests perform unsatisfactorily in this new setting. Based on our analysis, we propose new algorithms to improve the system performance. Copyright © 2010 John Wiley & Sons, Ltd.
Current Rectification in Temperature‐Responsive Single Nanopores
Authors: Guo Wei , Xia Hongwei , Xia Fan , Hou Xu , Cao Liuxuan , Wang Lin , Xue Jianming , Zhang Guangzhao , Song Yanlin , Zhu Daoben , Wang Yugang , Jiang Lei 
Published: February 2010

AbstractHerein we demonstrate a fully abiotic smart single‐nanopore device that rectifies ionic current in response to the temperature. The temperature‐responsive nanopore ionic rectifier can be switched between a rectifying state below 34 °C and a non‐rectifying state above 38 °C actuated by the phase transition of the poly(N‐isopropylacrylamide) [PNIPAM] brushes. On the rectifying state, the rectifying efficiency can be enhanced by the dehydration of the attached PNIPAM brushes below the LCST. When the PNIPAM brushes have sufficiently collapsed, the nanopore switches to the non‐rectifying state. The concept of the temperature‐responsive current rectification in chemically‐modified nanopores paves a new way for controlling the preferential direction of the ion transport in nanofluidics by modulating the temperature, which has the potential to build novel nanomachines with smart fluidic communication functions for future lab‐on‐chip devices.
Organic Polyaromatic Hydrocarbons as Sensitizing Model Dyes for Semiconductor Nanoparticles
Authors: Zhang Yongyi , Galoppini Elena 
Published: February 2010

AbstractThe study of interfacial charge‐transfer processes (sensitization) of a dye bound to large‐bandgap nanostructured metal oxide semiconductors, including TiO2, ZnO, and SnO2, is continuing to attract interest in various areas of renewable energy, especially for the development of dye‐sensitized solar cells (DSSCs). The scope of this Review is to describe how selected model sensitizers prepared from organic polyaromatic hydrocarbons have been used over the past 15 years to elucidate, through a variety of techniques, fundamental aspects of heterogeneous charge transfer at the surface of a semiconductor. This Review does not focus on the most recent or efficient dyes, but rather on how model dyes prepared from aromatic hydrocarbons have been used, over time, in key fundamental studies of heterogeneous charge transfer. In particular, we describe model chromophores prepared from anthracene, pyrene, perylene, and azulene. As the level of complexity of the model dye‐bridge‐anchor group compounds has increased, the understanding of some aspects of very complex charge transfer events has improved. The knowledge acquired from the study of the described model dyes is of importance not only for DSSC development but also to other fields of science for which electronic processes at the molecule/semiconductor interface are relevant.
Understanding the role of asymmetric cell division in cancer using C. elegans
Authors: Hyenne Vincent , Chartier Nicolas T. , Labbé Jean‐Claude 
Published: February 2010

AbstractAsymmetric cell division is an important process to generate cell diversity and maintain tissue homeostasis. Recent evidence suggests that this process may also be crucial to prevent tumor formation. In the past 30 years, the embryo of the nematode Caenorhabditis elegans has proven to be a very powerful model to study the molecular and cellular basis of asymmetric cell division. Understanding this process in Caenorhabditis elegans may thus lead to a better understanding of stem cell function and tumorigenesis in humans. Developmental Dynamics 239:1378–1387, 2010. © 2010 Wiley‐Liss, Inc.
Integration of diverse inputs in the regulation of Caenorhabditis elegans DAF‐16/FOXO
Authors: Landis Jessica N. , Murphy Coleen T. 
Published: February 2010

AbstractIn a remarkably conserved insulin signaling pathway that is well‐known for its regulation of longevity in worms, flies, and mammals, the major C. elegans effector of this pathway, DAF‐16/FOXO, also modulates many other physiological processes. This raises the question of how DAF‐16/FOXO chooses the correct targets to achieve the appropriate response in a particular context. Here, we review current knowledge of tissue‐specificity and interacting partners that modulate DAF‐16/FOXO functional output. Developmental Dynamics 239:1405–1412, 2010. © 2010 Wiley‐Liss, Inc.
Generation of conditional null alleles for APP and APLP2
Authors: Mallm Jan‐Philipp , Tschäpe Jakob‐Andreas , Hick Meike , Filippov Mikhail A. , Müller Ulrike C. 
Published: February 2010

AbstractProteolytical cleavage of the β‐amyloid precursor protein (APP) generates β‐amyloid, which is deposited in the brains of patients suffering from Alzheimer's disease (AD). Despite the well‐established key role of APP for AD pathogenesis, the physiological function of APP and its close homologues APLP1 and APLP2 remains poorly understood. Previously, we generated APP–/– mice that proved viable, whereas APP–/–APLP2–/– mice and triple knockouts died shortly after birth, likely due to deficits of neuromuscular synaptic transmission. Here, we generated conditional knockout alleles for both APP and APLP2 in which the promoter and exon1 were flanked by loxP sites. No differences in expression were detectable between wt and floxed alleles, whereas null alleles were obtained upon crossing with Cre‐transgenic deleter mice. These mice will now allow for tissue and time‐point controlled knockout of both genes. genesis 48:200–206, 2010. © 2010 Wiley‐Liss, Inc.
Complement C5a regulates IL‐17 by affecting the crosstalk between DC and γδ T cells in CLP‐induced sepsis
Authors: Xu Ruonan , Wang Renxi , Han Gencheng , Wang Jianan , Chen Guojiang , Wang Liyan , Li Xia , Guo Renfeng , Shen Beifen , Li Yan 
Published: February 2010

AbstractComplement 5a (C5a) and Interleukin‐17 (IL‐17) are two important inflammatory mediators in sepsis. Here we studied the mechanisms underlying regulation of IL‐17 by anaphylatoxin C5a. We found that C5a blockade increased the survival rate of mice following cecal ligation and puncture (CLP)‐induced sepsis and decreased IL‐17 expression in vivo. IL‐17 was secreted mainly by γδ T cells in this model. Importantly, our data suggest that C5a participates in the regulation of IL‐17 secretion by γδ T cells. Dendritic cells (DC) were found to act as a “bridge” between C5a and γδ T cells in a mechanism involving IL‐6 and transforming growth factor β (TGF‐β). These results imply that C5a affects the crosstalk between DC and γδ T cells during sepsis development, and this may result in a large production of inflammatory mediators such as IL‐17.
Axisymmetric stagnation flow obliquely impinging on a moving circular cylinder with uniform transpiration
Authors: Rahimi Asghar B. , Esmaeilpour M. 
Published: February 2010

AbstractLaminar stagnation flow, axisymmetrically yet obliquely impinging on a moving circular cylinder, is formulated as an exact solution of the Navier–Stokes equations. Axial velocity is time‐dependent, whereas the surface transpiration is uniform and steady. The impinging free stream is steady with a strain rate k̄. The governing parameters are the stagnation‐flow Reynolds number Re=k̄a2/2ν, and the dimensionless transpiration S=U0/k̄a. An exact solution is obtained by reducing the Navier–Stokes equations to a system of differential equations governed by Reynolds number and the dimensionless wall transpiration rate, S. The system of Boundary Value Problems is then solved by the shooting method and by deploying a finite difference scheme as a semi‐similar solution. The results are presented for velocity similarity functions, axial shear stress and stream functions for a variety of cases. Shear stresses in all cases increase with the increase in Reynolds number and suction rate. The effect of different parameters on the deflection of viscous stagnation circle is also determined. Copyright © 2010 John Wiley & Sons, Ltd.
Numerical simulation of the flow around a porous covering square cylinder in a channel via lattice Boltzmann method
Authors: Rong F. M. , Guo Z. L. , Lu J. H. , Shi B. C. 
Published: February 2010

AbstractIn this paper, a detailed investigation on the flow past a porous covering cylinder is presented through the lattice Boltzmann method. The Brinkman‐Forchheimer‐extended Darcy model is adopted for the entire flow field with the solid, fluid, and porous medium. The effects of several parameters, such as porous layer thickness, Darcy number, porosity, and Reynolds number on flow field are discussed. Compared with the case of a solid cylinder, the present work shows that the porous layer may play an important role on the flow, the lift and drag force exerted on the cylinder. The numerical results indicate that the maximal drag coefficient Cd and maximal amplitude of lift coefficient Cl exist at certain Darcy number which is in the range of 10−6–10−2. Copyright © 2010 John Wiley & Sons, Ltd.