bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature
Authors: Bierhals Tatjana , Maddukuri Satish Babu , Kutsche Kerstin , Girisha Katta Mohan 
Published: January 2013

AbstractThe routine use of molecular karyotyping in the evaluation of patients with idiopathic developmental delay with/without dysmorphic features, has led to the delineation of several submicroscopic deletion/duplication syndromes. De novo copy number variations are often presumed to be pathogenic and inherited ones from a healthy parent likely to be not relevant for the phenotype. However, it is difficult to draw such a conclusion for an inherited copy number variation not known to be a common variation. We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a 17q12 tandem duplication of ∼1.4 Mb from his healthy father. Copy number variations in this chromosomal region are thought to be pathogenic and associated with various phenotypes including developmental delay, growth retardation, seizures, renal disease, and diabetes mellitus. We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present case. We also share our thoughts on submicroscopic complexity that may underlie, at least in part, the wide range of phenotypes in patients with 17q12 duplication. © 2013 Wiley Periodicals, Inc.
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9
Authors: Czeschik Johanna Christina , Voigt Claudia , Goecke Timm O. , Lüdecke Hermann‐Josef , Wagner Nicholas , Kuechler Alma , Wieczorek Dagmar 
Published: January 2013

AbstractWe present two previously unreported and unrelated female patients, one with the tentative diagnosis of acromegaloid facial appearance (AFA), the other with the tentative diagnosis of hypertrichosis with acromegaloid facial appearance (HAFF) with or without gingival hyperplasia. Main clinical features of HAFF were generalized hypertrichosis terminalis and coarse facial features. In both patients, pregnancy was complicated by polyhydramnios, and both had hyperbilirubinemia and persistent fetal circulation. Development was normal in one patient and slightly delayed in the other. At 13 years, both had round faces with full cheeks, thick scalp hair and eyebrows, a low frontal hairline, hirsutism, hyperextensible joints and deep palmar creases. One of them additionally showed gingival hypertrophy and epicanthus, the other one was macrocephalic at birth and at the age of 13 years and suffered from repeated swelling of the soft tissue. Array analysis excluded a 17q24.2‐q24.3 microdeletion, which has been reported in patients with hypertrichosis terminalis with or without gingival hyperplasia. Sequencing of the mutational hotspots of the ABCC9 gene revealed two different de novo missense mutations in the two patients. Recently, identical mutations have been found recurrently in patients with Cantú syndrome. Therefore, we propose that ABCC9 mutations lead to a spectrum of phenotypes formerly known as Cantú syndrome, HAFF and AFA, which may not be clearly distinguishable by clinical criteria, and that all patients with clinical signs belonging to this spectrum should be revisited and offered ABCC9 mutation analysis. © 2013 Wiley Periodicals, Inc.
N‐acetylcysteine exerts therapeutic action in a rat model of allergic rhinitis
Authors: Guibas George V. , Spandou Evangelia , Meditskou Soultana , Vyzantiadis Timoleon A. , Priftis Kostas N. , Anogianakis George 
Published: January 2013

BackgroundThe pathophysiologic mechanism of allergy is dependent on the action of many redox‐sensitive proinflammatory mediators. However, even though redox disturbances are believed to be a hallmark of inflammation, little is known of the effect of redox imbalance to the pathophysiology of allergic rhinitis. We thus opted to investigate the relation of oxidative stress and allergic rhinitis, through the utilization of a potent antioxidant substance (N‐acetylcysteine [NAC]) in a rat model of allergic rhinitis and the evaluation of its action on specific markers of inflammation.MethodsNAC (50 mg/kg and 250 mg/kg) was intraperitoneally administered to ovalbumin (OVA)‐sensitized rats prior to intranasal challenge with OVA. Mucosal congregation of inflammatory cells (eosinophils and mast cells), mucosal expression of redox‐sensitive enzymes (inducible nitric oxide synthase [iNOS] and cyclooxygenase 2 [COX‐2]), and the blood levels of a key proinflammatory mediator (tumor necrosis factor‐α [TNF‐α]) were evaluated.ResultsIntranasal OVA challenges lead to mucosal inflammation, induction of the mucosal expression of iNOS and COX‐2 and elevation of TNF‐α blood levels. NAC significantly inhibited accumulation of inflammatory cells and downregulated iNOS expression and TNF‐α serum levels. The role of COX‐2 appeared to be 2‐fold and its expression was divergently modulated by NAC.ConclusionOur findings suggest that redox balance is involved in the pathophysiology of allergic rhinitis in rats and that NAC can potentially suppress the allergen‐induced nasal inflammatory cascade. The investigation of the role of oxidative stress in atopy could help in the evaluation of the therapeutic potential of antioxidant substances in allergic diseases.
Nanostrukturierte Elektroden für Hochleistungs‐Pseudokondensatoren
Authors: Lu Qi , Chen Jingguang G. , Xiao John Q 
Published: January 2013

AbstractDer Rückgang der klassischen Energieressourcen und der Wunsch nach Reduktion des hohen CO2‐Ausstoßes bei der Energieproduktion sind Gründe dafür, dass die Frage nach der Energiespeicherung einen immer höheren Stellenwert einnimmt. Energiespeichersysteme wie Superkondensatoren oder Batterien benötigen jedoch dringend neue funktionale Elektrodenmaterialen, um den immer weiter steigenden Bedarf an höherer Energie‐ und Leistungsdichte zu decken. Diese Herausforderungen können nur mithilfe der Nanotechnologie bewältigt werden. So müssen Synthesewege für Nanomaterialien mit verbesserten Eigenschaften gefunden werden. In diesem Kurzaufsatz erörtern wir Entwicklungen bei nanostrukturierten Elektroden für Pseudokondensatoren und fassen die drei wichtigsten Parameter zusammen, die für die Leistungsfähigkeit des Elektrodenmaterials entscheidend sind. Zusätzlich stellen wir eine Technik vor, wie diese Parameter für hohe Energie‐ und Leistungsdichten gleichzeitig optimiert werden können.
Stark fluoreszierende halbleitende Polymerpunkte für Biologie und Medizin
Authors: Wu Changfeng , Chiu Daniel T. 
Published: January 2013

AbstractIn den letzten Jahren haben halbleitende Polymernanopartikel beträchtliches Interesse geweckt, und zwar aufgrund ihrer herausragenden Eigenschaften als Fluoreszenzsonden. Diese Nanopartikel, die vorwiegend aus π‐konjugierten Polymeren bestehen und Polymerpunkte (P‐Punkte) genannt werden, wenn sie eine kleine Partikelgröße und eine hohe Helligkeit aufweisen, wurden für eine ganze Reihe verschiedener Anwendungen vorgestellt, darunter auch Fluoreszenzbildgebung und Biosensorik. Dieser Aufsatz gibt einen Überblick über kürzlich erzielte Ergebnisse hinsichtlich der photophysikalischen Eigenschaften von P‐Punkten, die die Vorzüge dieser Substanzklasse als Fluoreszenzmarker unterstreichen. Ein weiterer Schwerpunkt liegt auf der Oberflächenfunktionalisierung und der biomolekularen Konjugation der P‐Punkte sowie deren Anwendungen für die Zellmarkierung, In‐vivo‐Bildgebung, Einzelpartikelverfolgung, Biosensorik und den Wirkstofftransport.
The biodiversity value of marine protected areas for multi‐species fishery management in the Gulf of Maine
Authors: Cook Rosamonde R. , Auster Peter J. 
Published: January 2013

ABSTRACTThis work examined the potential for marine protected areas based on the efficient design of essential fish habitat (EFH) for juvenile life stages of economically important demersal fish species to represent non‐exploited demersal fish species in the Gulf of Maine.Distribution and abundance data from research trawl surveys conducted from 1963–2000 were pooled into a 10‐min lat/long square sampling grid and density per square of each species was calculated as the mean of counts from all surveys.A simulated annealing algorithm (Marxan) was used to identify minimum sets of 10‐min squares that represented at least 10–30% of the regional abundance of each species under constraints for degree of spatial aggregation among sites. Numbers of non‐exploited species in these sites, and species represented at abundance levels equal to or greater than the targets set for juveniles of economically important species were identified, and both were compared with mean totals from 100 sets of randomly drawn squares of equivalent number to simulation results.Percentages of non‐exploited species among all scenarios varied from 81–97%. All species absent from simulation results were rare regionally. Species richness was lower in each case compared with randomly drawn squares, but only marginally. However, more species were represented in complementary sites at abundance levels equal to or greater than the targets set for economically important species.These results were interpreted with respect to a definition of biodiversity that includes species as well as functional and structural ecosystem components, and it was concluded that the dual objectives of fishery management and biodiversity conservation can be achieved, at least in some cases, within a single network of marine protected areas of moderate size.Copyright © 2013 John Wiley & Sons, Ltd.
Tuning Optical Properties of Si Quantum Dots by π‐Conjugated Capping Molecules
Authors: Dung Mai Xuan , Tung Dao Duy , Jeong Sohee , Jeong Hyun‐Dam 
Published: January 2013

AbstractThe absorption and photoluminescence (PL) properties of silicon quantum dots (QDs) are greatly influenced by their size and surface chemistry. Herein, we examined the optical properties of three Si QDs with increasing σ–π conjugation length: octyl‐, (trimethylsilyl)vinyl‐, and 2‐phenylvinyl‐capped Si QDs. The PL photon energy obtained from as‐prepared samples decreased by 0.1–0.3 eV, while the PL excitation (PLE) extended from 360 nm (octyl‐capped Si QDs) to 400 nm (2‐phenylvinyl‐capped Si QDs). A vibrational PL feature was observed in all samples with an energy separation of about 0.192±0.013 eV, which was explained based on electron–phonon coupling. After soft oxidization through drying, all samples showed blue PL with maxima at approximately 410 nm. A similar high‐energy peak was observed with the bare Si QD sample. The changes in the optical properties of Si QDs were mainly explained by the formation of additional states arising from the strong σ–π conjugation and QD oxidation.
Compensation for Periodic Star Sensor Measurement Error on Satellite
Authors: Xiong Kai , Liu Liangdong 
Published: January 2013

AbstractA novel method based on the least squares estimation and the augmented Kalman filter (KF) is proposed to identify and compensate for the star sensor measurement error due to the periodic star sensor alignment change. For the satellite attitude determination system, the periodic star sensor measurement error causes periodic variations in the gyroscope bias estimate. Thus, the gyroscope bias estimate is adopted as an indicator for the identification of the periodic star sensor measurement error. The high performance of the proposed method is illustrated through numerical simulations with the use of the real gyroscope data. It is shown that the proposed method is effective.
Validated LC‐ESI‐MS/MS method for simultaneous quantitation of felodipine and metoprolol in rat plasma: application to a pharmacokinetic study in rats
Authors: Kallem Raja Reddy , Ramesh Mullangi , Seshagirirao J. V. L. N. 
Published: January 2013

ABSTRACTA highly sensitive and specific LC‐ESI‐MS/MS method has been developed and validated for simultaneous quantification of felodipine (FDP) and metoprolol (MPL) in rat plasma (50 μL) using phenacetin as an internal standard (IS) as per the FDA guidelines. Liquid–liquid extraction method was used to extract the analytes and IS from rat plasma. The chromatographic resolution of FDP, MPL and IS was achieved with a mobile phase consisting of 0.2% formic acid in water–acetonitrile (25:75, v/v) with a time program flow gradient on a C18 column. The total chromatographic run time was 4.0 min and the elution of FDP, MPL and IS occurred at 1.05, 2.59 and 1.65 min, respectively. A linear response function was established for the range of concentrations 0.59–1148 and 0.53–991 ng/mL for FDP and MPL, respectively, in rat plasma. The intra‐ and inter‐day accuracy and precision values for FDP and MPL met the acceptance as per FDA guidelines. FDP and MPL were stable in battery of stability studies viz., bench‐top, auto‐sampler and freeze–thaw cycles. The validated assay was applied to a pharmacokinetic study in rats. Copyright © 2013 John Wiley & Sons, Ltd.
Isolation and Characterisation of a Ferrirhodin Synthetase Gene from the Sugarcane Pathogen Fusarium sacchari
Authors: Munawar Asifa , Marshall James W. , Cox Russell J. , Bailey Andy M. , Lazarus Colin M. 
Published: January 2013

AbstractFSN1, a gene isolated from the sugar‐cane pathogen Fusarium sacchari, encodes a 4707‐residue nonribosomal peptide synthetase consisting of three complete adenylation, thiolation and condensation modules followed by two additional thiolation and condensation domain repeats. This structure is similar to that of ferricrocin synthetase, which makes a siderophore that is involved in intracellular iron storage in other filamentous fungi. Heterologous expression of FSN1 in Aspergillus oryzae resulted in the accumulation of a secreted metabolite that was identified as ferrirhodin. This siderophore was found to be present in both mycelium and culture filtrates of F. sacchari, whereas ferricrocin is found only in the mycelium, thus suggesting that ferricrocin is an intracellular storage siderophore in F. sacchari, whereas ferrirhodin is used for iron acquisition. To our knowledge, this is the first report to characterise a ferrirhodin synthetase gene functionally.
Basic Principles and Current Trends in Colloidal Synthesis of Highly Luminescent Semiconductor Nanocrystals
Authors: Samokhvalov Pavel , Artemyev Mikhail , Nabiev Igor 
Published: January 2013

AbstractThe principal methods for the synthesis of highly luminescent core–shell colloidal quantum dots (QDs) of the most widely used CdSe, CdS, ZnSe, and other AIIBVI nanocrystals are reviewed. One‐pot versus multistage core synthesis approaches are discussed. The noninjection one‐pot method ensures slow, controllable growth of core nanocrystals starting from magic‐size seed recrystallization, which yields defect‐free cores with strictly specified sizes and shapes and a high monodispersity. Subsequent injection of shell precursors allows the formation of gradient core–shell QDs with a smooth potential barrier for electrons and holes, without strains or interfacial defects, and, as a consequence, a luminescence quantum yield (QY) approaching 100 %. These general approaches can also be applied to semiconductor core–shell QDs other than AIIBVI ones to cover the broad spectral range from the near‐UV to IR regions of the optical spectrum, thus displacing fluorescent organic dyes from their application areas.
An Investigation of 1:1 Adducts of Gallium Trihalides with Triarylphosphines by Solid‐State 69/71Ga and 31P NMR Spectroscopy
Authors: Chen Fu , Ma Guibin , Bernard Guy M. , Wasylishen Roderick E. , Cavell Ronald G. , McDonald Robert , Ferguson Michael J. 
Published: January 2013

AbstractSeveral 1:1 adducts of gallium trihalides with triarylphosphines, X3Ga(PR3) (X=Cl, Br, and I; PR3=triarylphosphine ligand), were investigated by using solid‐state 69/71Ga and 31P NMR spectroscopy at different magnetic‐field strengths. The 69/71Ga nuclear quadrupolar coupling parameters, as well as the gallium and phosphorus magnetic shielding tensors, were determined. The magnitude of the 71Ga quadrupolar coupling constants (CQ(71Ga)) range from approximately 0.9 to 11.0 MHz. The spans of the gallium magnetic shielding tensors for these complexes, δ11−δ33, range from approximately 30 to 380 ppm; those determined for phosphorus range from 10 to 40 ppm. For any given phosphine ligand, the gallium nuclei are most shielded for X=I and least shielded for X=Cl, a trend previously observed for InIII–phosphine complexes. This experimental trend, attributed to spin‐orbit effects of the halogen ligands, is reproduced by DFT calculations. The signs of CQ(69/71Ga) for some of the adducts were determined from the analysis of the 31P NMR spectra acquired with magic angle spinning (MAS). The 1J(69/71Ga,31P) and ΔJ(69/71Ga, 31P) values, as well as their signs, were also determined; values of 1J(71Ga,31P) range from approximately 380 to 1590 Hz. Values of 1J(69/71Ga,31P) and ΔJ(69/71Ga,31P) calculated by using DFT have comparable magnitudes and generally reproduce experimental trends. Both the Fermi‐contact and spin‐dipolar Fermi‐contact mechanisms make important contributions to the 1J(69/71Ga,31P) tensors. The 31P NMR spectra of several adducts in solution, obtained as a function of temperature, are contrasted with those obtained in the solid state. Finally, to complement the analysis of NMR spectra for these adducts, single‐crystal X‐ray diffraction data for Br3Ga[P(p‐Anis)3] and I3Ga[P(p‐Anis)3] were obtained.
Giant Residual Dipolar 13C–1H Couplings in High‐Spin Organoiron Complexes: Elucidation of Their Structures in Solution by 13C NMR Spectroscopy
Authors: Kruck Matthias , Wadepohl Hubert , Enders Markus , Gade Lutz H. 
Published: January 2013

AbstractHigh‐spin FeII–alkyl complexes with bis(pyridylimino)isoindolato ligands were synthesized and their paramagnetic 1H and 13C NMR spectra were analyzed comprehensively. The experimental 13C—1H coupling values are temperature (T−1)‐ as well as magnetic‐field (B2)‐dependent and deviate considerably from typical scalar 1JCH couplings constants. This deviation is attributed to residual dipolar couplings (RDCs), which arise from partial alignment of the complexes in the presence of a strong magnetic field. The analysis of the experimental RDCs allows an unambiguous assignment of all 13C NMR resonances and, additionally, a structural refinement of the conformation of the complexes in solution. Moreover the RDCs can be used for the analysis of the alignment tensor and hence the tensor of the anisotropy of the magnetic susceptibility.
A Versatile Long‐Wavelength‐Absorbing Scaffold for Eu‐Based Responsive Probes
Authors: Szíjjártó Csongor , Pershagen Elias , Ilchenko Nadia O. , Borbas K. Eszter 
Published: January 2013

AbstractCoumarin‐sensitized, long‐wavelength‐absorbing luminescent EuIII‐complexes have been synthesized and characterized. The lanthanide binding site consists of a cyclen‐based chelating framework that is attached through a short linker to a 7‐hydroxycoumarin, a 7‐B(OH)2‐coumarin, a 7‐O‐(4‐pinacolatoboronbenzyl)‐coumarin or a 7‐O‐(4‐methoxybenzyl)‐coumarin. The syntheses are straightforward, use readily available building blocks, and proceed through a small number of high‐yielding steps. The sensitivity of coumarin photophysics to the 7‐substituent enables modulation of the antenna‐absorption properties, and thus the lanthanide excitation spectrum. Reactions of the boronate‐based functionalities (cages) with H2O2 yielded the corresponding 7‐hydroxycoumarin species. The same species was produced with peroxynitrite in a ×106–107‐fold faster reaction. Both reactions resulted in the emergence of a strong ≈407 nm excitation band, with concomitant decrease of the 366 nm band of the caged probe. In aqueous solution the methoxybenzyl caged Eu‐complex was quenched by ONOO−. We have shown that preliminary screening of simple coumarin‐based antennae through UV/Vis absorption spectroscopy is possible as the changes in absorption profile translate with good fidelity to changes in EuIII‐excitation profile in the fully elaborated complex. Taken together, our results show that the 7‐hydroxycoumarin antenna is a viable scaffold for the construction of turn‐on and ratiometric luminescent probes.
Total Synthesis of (+)‐ and (−)‐Decursivine and (±)‐Serotobenine through a Cascade Witkop Photocyclization/Elimination/Addition Sequence: Scope and Mechanistic Insights
Authors: Hu Weimin , Qin Hua , Cui Yuxin , Jia Yanxing 
Published: January 2013

AbstractIn this article, the total syntheses of antimalarial compound decursivine and its biologically inactive sibling serotobenine are presented. The biomimetic synthesis of (±)‐serotobenine was investigated first, but failed. During the subsequent investigation of other synthetic routes, we discovered a new cascade Witkop photocyclization/elimination/addition sequence, which enabled the expedient synthesis of not only racemic decursivine and serotobenine, but also enantiopure (+)‐ and (−)‐decursivine and a variety of their analogues. The present syntheses represent the shortest pathway for the total synthesis of decursivine and serotobenine to date. Moreover, the newly developed cascade sequence for the total synthesis of decursivine does not need any protecting steps. The scope and the reaction mechanism of the cascade sequence were also studied. A rational mechanism for the cascade sequence is proposed, which is consistent with the previous studies and our current experimental results.
Controllable Fabrication of CuS Hierarchical Nanostructures and Their Optical, Photocatalytic, and Wave Absorption Properties
Authors: He Shuai , Wang Guang‐Sheng , Lu Chang , Luo Xin , Wen Bo , Guo Lin , Cao Mao‐Sheng 
Published: January 2013

AbstractA series of CuS nanostructures were synthesized by a simple wet chemical method on a large scale in the presence of cetyltrimethylammonium bromide at low temperature. Three typical samples were selected to study the relationship between the morphologies and resulting physical properties. The optical properties of CuS hierarchical structures were investigated by UV/Vis and Raman spectroscopy and the excellent photocatalytic performance was also evaluated by measuring the decomposition rate of methylene blue under natural light. As an absorber, the selected CuS nanostructures possess excellent microwave absorbing properties. When the thickness of the absorber is 3.5 mm, the minimum reflection loss can reach −76.4 dB at 12.64 GHz. The enhanced photocatalytic performance and microwave absorbing properties were also explained based on morphologies of the nanostructures.