bluuebunny/crossref_metadata_2025_split huggingface dataset:
Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations
Authors: Cameron Jillian M. , Maljevic Snezana , Nair Umesh , Aung Ye Htet , Cogné Benjamin , Bézieau Stéphane , Blair Edward , Isidor Bertrand , Zweier Christiane , Reis André , Koenig Mary Kay , Maarup Timothy , Sarco Dean , Afenjar Alexandra , Huq A. H. M. Mahbubul , Kukolich Mary , Billette de Villemeur Thierry , Nava Caroline , Héron Bénédicte , Petrou Steven , Berkovic Samuel F. 
Published: July 2019

AbstractObjectiveTo analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore genotype‐phenotype‐physiological correlations.MethodsTen cases with putative pathogenic variants in KCNC1 were studied. Variants had been identified via whole‐exome sequencing or gene panel testing. Clinical phenotypic data were analyzed. To determine functional impact of variants detected in the Kv3.1 channel encoded by KCNC1, Xenopus laevis oocyte expression system and automated two‐electrode voltage clamping were used.ResultsSix unrelated patients had a Developmental and Epileptic Encephalopathy and a recurrent de novo variant p.Ala421Val (c.1262C > T). Functional analysis of p.Ala421Val revealed loss of function through a significant reduction in whole‐cell current, but no dominant‐negative effect. Three patients had a contrasting phenotype of Developmental Encephalopathy without seizures and different KCNC1 variants, all of which caused loss of function with reduced whole‐cell currents. Evaluation of the variant p.Ala513Val (c.1538C > T) in the tenth case, suggested it was a variant of uncertain significance.InterpretationThese are the first reported cases of Developmental and Epileptic Encephalopathy due to KCNC1 mutation. The spectrum of phenotypes associated with KCNC1 is now broadened to include not only a Progressive Myoclonus Epilepsy, but an infantile onset Developmental and Epileptic Encephalopathy, as well as Developmental Encephalopathy without seizures. Loss of function is a key feature, but definitive electrophysiological separation of these phenotypes has not yet emerged.
p75 and neural cell adhesion molecule 1 can identify pathologic Schwann cells in peripheral neuropathies
Authors: Kim Young Hee , Kim Young Hye , Shin Yoon Kyung , Jo Young Rae , Park Da Kyeong , Song Min‐Young , Yoon Byeol‐A. , Nam Soo Hyun , Kim Jong Hyun , Choi Byung‐Ok , Shin Ha Young , Kim Seung Woo , Kim Se Hoon , Hong Young Bin , Kim Jong Kuk , Park Hwan Tae 
Published: July 2019

AbstractObjectiveMyelinated Schwann cells (SCs) in adult peripheral nerves dedifferentiate into immature cells in demyelinating neuropathies and Wallerian degeneration. This plastic SC change is actively involved in the myelin destruction and clearance as demyelinating SCs (DSCs). In inherited demyelinating neuropathy, pathologically differentiated and dysmyelinated SCs constitute the main nerve pathology.MethodsWe investigated whether this SC plastic status in human neuropathic nerves could be determined by patient sera to develop disease‐relevant serum biomarkers. Based on proteomics analysis of the secreted exosomes from immature SCs, we traced p75 neurotrophin receptor (p75) and neural cell adhesion molecule 1 (NCAM) in the sera of patients with peripheral neuropathy.ResultsEnzyme‐linked immunosorbent assay (ELISA) revealed that p75 and NCAM were subtype‐specifically expressed in the sera of patients with peripheral neuropathy. In conjunction with these ELISA data, pathological analyses of animal models and human specimens suggested that the presence of DSCs in inflammatory neuropathy and of supernumerary nonmyelinating or dysmyelinating SCs in inherited neuropathy could potentially be distinguished by comparing the expression profiles of p75 and NCAM.InterpretationThis study indicates that the identification of disease‐specific pathological SC stages might be a valuable tool for differential diagnosis of peripheral neuropathies.
Novel TTN mutations and muscle imaging characteristics in congenital titinopathy
Authors: Yu Meng , Zhu Ying , Xie Zhiying , Zheng Yiming , Xiao Jiangxi , Zhang Wei , Nishino Ichizo , Yuan Yun , Wang Zhaoxia 
Published: July 2019

AbstractObjectiveWe present clinical features, muscle imaging findings, and genetic characteristics of five unrelated Chinese patients with congenital titinopathy, emphasizing the diagnostic role of muscle MRI.MethodsFive patients who recessive titinopathies were recruited. All patients received muscle biopsies. Mutations were detected by panel massively parallel sequencing and confirmed by Sanger sequencing. Western blotting of muscle proteins was performed. Leg muscle MRIs were performed in four patients.ResultsFour patients aged 1–4 years old showed delayed motor development from early infancy, while a 17‐year‐old boy showed only a 1‐year history of exercise intolerance. Physical examination showed proximal weakness in three patients. Muscle biopsies demonstrated multiple myopathological changes, including increased internalized nuclei, multicores, central cores, and dystrophic changes. Genetic sequencing revealed compound heterozygous or homozygous novel TTN mutations, including six frameshift mutations, one nonsense mutation, two missense mutations, one splicing mutation, and one small nonframeshift deletion. Protein analyses revealed significant decrease of full‐length titin in all patients. Thigh muscle MRIs in four patients showed prominent fatty infiltration in the upper portion of semitendinosus and the peripheral portion of gluteus medius, while the sartorius and gracilis were relatively preserved.InterpretationThese cases provided further evidence that TTN mutations are likely responsible for an increasing proportion of congenital myopathies than currently recognized. The novel mutations reported expand the mutation spectrum of the TTN gene. There is a characteristic pattern of muscle involvement in congenital titinopathy regardless of clinical or pathological phenotype, providing valuable clues for guiding a genetic diagnosis workup.
Feverish Delirium: Surrealism, Deconstruction and Numinous Presences
Authors: Spiller Neil 
Published: July 2019

AbstractThrough his current drawing work, 2’s Editor Neil Spiller traces the protagonists of MoMA's 1988 ‘Deconstructivist Architecture’ exhibition back to the Surrealists and their engagement with Paris as a great engine of chance, liberating the coiled‐up and unseen properties of objects.
Observation and Implications of Composition Inhomogeneity Along Grain Boundaries in Thin Film Polycrystalline CdTe Photovoltaic Devices
Authors: Misra Sudhajit , Aguiar Jeffery A. , Sun Yubo , v. Devener Brian , Palekis Vasilios , Ferekides Christos S. , Yoon Heayoung P. , Bermel Peter , Scarpulla Michael A. 
Published: July 2019

AbstractLeading photovoltaic technologies such as multicrystalline Si, CdTe, Cu(In,Ga)Se2, and lead halide perovskites are polycrystalline, yet achieve relatively high performance. At the moment polycrystalline photovoltaic technologies stand at a juncture where further advances in device performance and reliability necessitate additional characterization and modeling to include nanoscale property variations. Properties and implications of grain boundaries are previously studied, yet chemistry variations along individual grain boundaries and its implications are not yet fully explored. Here, the effects of bromine etching of CdTe absorber layers on the nanoscale chemistry are reported. Bromine etching is commonly used for improving CdTe back contacts, yet it removes both cadmium and chlorine along grain boundaries to depths closer to 1 µm. 2D device simulations reveal these composition modifications limit photovoltaic performance. Since grain boundaries and their intersections with surfaces and interfaces are universal to thin film photovoltaics, these findings call for similar studies in each of the photovoltaic technologies to further enable advances.
Simple and Low‐Cost Plasmonic Fiber‐Optic Probe as SERS and Biosensing Platform
Authors: Liu Yun , Guang Jianye , Liu Chuan , Bi Sheng , Liu Qiang , Li Ping , Zhang Ning , Chen Shimeng , Yuan Huizhen , Zhou Dapeng , Peng Wei 
Published: July 2019

AbstractAs an emerging and promising paradigm of nanophotonic “lab‐on‐a‐chip” devices, plasmonic fiber‐optic (FO) probes with nanopatterns suffer from high cost and a complex fabrication process, which keep them from becoming the preferred choice for most optical fiber sensing applications. In this paper, a nanopatterned FO probe is demonstrated to be a surface‐enhanced Raman spectroscopy substrate and a plasmonic biosensor through theoretical simulations and experiments. The probe is assembled with imprinted nanocavities on the tip of the optical fiber and fabricated through a low‐cost and facile method. The FO probe overcomes the shortcomings of conventional optical fiber sensors that have nanoscale patterns and structures, such as requiring a complex and time‐consuming procedure, expensive specialized instruments, and experienced professional operation. Through investigating its surface sensitivity and the plasmonic coupling effect between Au nanoparticles and the nanocavity, this probe is found to have practical applications in the detection of biochemical molecules. The proposed FO probe can be produced under common experimental conditions, and its operation is simple and understandable, which serves as a new strategy for fabricating nanostructures on fiber tips.
Magnetic Control of Flexible Thermoelectric Devices Based on Macroscopic 3D Interconnected Nanowire Networks
Authors: Abreu Araujo Flavio , da Câmara Santa Clara Gomes Tristan , Piraux Luc 
Published: July 2019

AbstractSpin‐related effects in thermoelectricity can be used to design more efficient refrigerators and offer promising applications for the harvesting of thermal energy. The key challenge is to design structural and compositional magnetic material systems with sufficiently high efficiency and power output for transforming thermal energy into electric energy and vice versa. The fabrication of large‐area 3D interconnected Co/Cu nanowire networks is demonstrated, thereby enabling the controlled Peltier cooling of macroscopic electronic components with an external magnetic field. The flexible, macroscopic devices overcome the inherent limitations of nanoscale magnetic structures that are caused by insufficient power generation capability limiting the heat management applications. From properly designed experiments, large spin‐dependent Seebeck and Peltier coefficients of −9.4 µV K−1 and −2.8 mV at room temperature, respectively, are found. The resulting power factor of Co/Cu nanowire networks at room temperature (≈ 7.5 mW K−2 m−1) is larger than those of state‐of‐the‐art thermoelectric materials, such as BiTe alloys, and the magnetopower factor ratio reaches about 100% over a wide temperature range. Validation of magnetic control of heat flow achieved by taking advantage of the spin‐dependent thermoelectric properties of flexible macroscopic nanowire networks lays the groundwork to design shapeable thermoelectric coolers exploiting the spin degree of freedom.
Nonsaturating Magnetoresistance and Nontrivial Band Topology of Type‐II Weyl Semimetal NbIrTe4
Authors: Zhou Wei , Li Bin , Xu Chun Qiang , van Delft Maarten R. , Chen Yu Ge , Fan Xiao Chen , Qian Bin , Hussey Nigel E. , Xu Xiaofeng 
Published: July 2019

AbstractWeyl semimetals, characterized by nodal points in the bulk and Fermi arc states on the surface, have recently attracted extensive attention due to their potential application as materials for low‐energy‐consumption electronics. The thermodynamic and transport properties of a theoretically predicted Weyl semimetal NbIrTe4 is measured in high magnetic fields up to 35 T and low temperatures down to 0.4 K. Remarkably, NbIrTe4 exhibits a nonsaturating transverse magnetoresistance that follows a power‐law dependence in B. Low‐field Hall measurements reveal that hole‐like carriers dominate the transport for T > 80 K, while the significant enhancement of electron mobilities obtained by lowering T results in a non‐negligible contribution from electron‐like carriers, which is responsible for the observed nonlinear Hall resistivity at low T. The Shubnikov‐de Haas oscillations of the Hall resistivity under high B give the light effective masses of charge carriers and the nontrivial Berry phase associated with Weyl fermions. Further first‐principles calculations confirm the existence of 16 Weyl points located at kz
= 0, ± 0.02, and ± 0.2 planes in the Brillouin zone.
Prediction of Fluorooxoborates with Colossal Second Harmonic Generation (SHG) Coefficients and Extremely Wide Band Gaps: Towards Modulating Properties by Tuning the BO3/BO3F Ratio in Layers
Authors: Zhang Bingbing , Tikhonov Evgenii , Xie Congwei , Yang Zhihua , Pan Shilie 
Published: July 2019

AbstractFluorooxoborates have inspired investigations of deep‐ultraviolet (DUV) nonlinear optical (NLO) materials that can meet the multiple criteria. Herein, five stable structures with the composition of BaB2O3F2 (I–V) are discovered using the ab initio evolutionary algorithm. Among them, BaB2O3F2‐I has been synthesized experimentally and confirms the reliability of the method. All of the predicted structures possess extremely wide band gaps (8.1–9.0 eV). Moreover, four new structures exhibit giant second harmonic generation (SHG) coefficients (>3×KDP, d36=0.39 pm V−1). A novel type of the [BOF] layer with BO3:BO3F ratio of [1:1] is found in BaB2O3F2‐II and BaB2O3F2‐III. While BaB2O3F2‐IV and BaB2O3F2‐V are solely composed of the BO3F group and have colossal SHG coefficients (ca. 4×KDP). It gives the direct evidence that the BO3F group could generate strong SHG effect. Most importantly, the influences of BO3:BO3F ratio and their number density on band gap, birefringence and SHG effects are investigated.
Metallmodifizierte Nukleinsäuren: Metallvermittelte Basenpaare, ‐tripel und ‐tetraden
Authors: Naskar Shuvankar , Guha Rweetuparna , Müller Jens 
Published: July 2019

AbstractDas Einbringen von Metallionen in Nukleinsäuren mittels metallvermittelter Basenpaare stellt eine vielversprechende und weit verbreitete Methode zur ortsspezifischen Modifizierung dieser selbstassemblierenden Supramoleküle mit metallbasierter Funktionalität dar. In den vergangenen 20 Jahren wurden zahlreiche solcher Nukleosid‐Surrogate entwickelt, die die Bandbreite an Metallen durch perfekt zugeschnittene Metallbindungsstellen erweitert haben. In jüngster Vergangenheit rückten künstliche, von natürlichen Purin‐ und Pyrimidinbasen abgeleitete Nukleoside durch die erwartete Kompatibilität mit Watson‐Crick‐Basenpaaren in den Fokus AgI‐vermittelter Basenpaare. Dieser Kurzaufsatz fasst diese sowie weitere aktuelle Entwicklungen auf dem Gebiet metallvermittelter Basenpaare zusammen. Zudem befasst er sich mit weiteren Aspekten metallmodifizierter Nukleinsäuren, indem er eine Erweiterung des Konzepts auf metallvermittelte Basentripel (in Dreifachhelices und dreiarmigen DNA‐Kreuzungen) sowie ‐tetraden (in Quadruplexen) behandelt. Für alle Arten metallmodifizierter Nukleinsäuren werden darüber hinaus postulierte oder bereits erreichte Anwendungen kurz erwähnt.
Synthesis of Functionalized Medium‐Sized trans‐Cycloalkenes by 4π Electrocyclic Ring Opening/Alkylation Sequence
Authors: Ito Tomohiro , Tsutsumi Masaki , Yamada Ken‐ichi , Takikawa Hiroshi , Yamaoka Yousuke , Takasu Kiyosei 
Published: July 2019

AbstractDevelopment of a novel synthetic method for medium‐sized trans‐cycloalkenes (TCAs) is described. Functionalized TCAs are readily prepared from simple cycloalkanones in a few steps, namely, enol silyl ether formation, [2+2] cycloaddition, and domino 4π electrocyclic ring opening/alkylation (conjugate addition). The first example of central‐to‐planar chirality transfer from enantiomerically enriched cyclobutenes to TCAs is also described.
Lithium‐Aluminate‐Catalyzed Hydrophosphination Applications
Authors: Pollard Victoria A. , Young Allan , McLellan Ross , Kennedy Alan R. , Tuttle Tell , Mulvey Robert E. 
Published: July 2019

AbstractSynthesized, isolated, and characterized by X‐ray crystallography and NMR spectroscopic studies, lithium phosphidoaluminate iBu3AlPPh2Li(THF)3 has been tested as a catalyst for hydrophosphination of alkynes, alkenes, and carbodiimides. Based on the collective evidence of stoichiometric reactions, NMR monitoring studies, kinetic analysis, and DFT calculations, a mechanism involving deprotonation, alkyne insertion, and protonolysis is proposed for the [iBu3AlHLi]2 aluminate catalyzed hydrophosphination of alkynes with diphenylphosphine. This study enhances further the development of transition‐metal‐free, atom‐economical homogeneous catalysis using common sustainable main‐group metals.
Beyond Charge Balance: Counter‐Cations in Polyoxometalate Chemistry
Authors: Misra Archismita , Kozma Karoly , Streb Carsten , Nyman May 
Published: July 2019

AbstractPolyoxometalates (POMs) are molecular metal‐oxide anions applied in energy conversion and storage, manipulation of biomolecules, catalysis, as well as materials design and assembly. Although often overlooked, the interplay of intrinsically anionic POMs with organic and inorganic cations is crucial to control POM self‐assembly, stabilization, solubility, and function. Beyond simple alkali metals and ammonium, chemically diverse cations including dendrimers, polyvalent metals, metal complexes, amphiphiles, and alkaloids allow tailoring properties for known applications, and those yet to be discovered. This review provides an overview of fundamental POM–cation interactions in solution, the resulting solid‐state compounds, and behavior and properties that emerge from these POM–cation interactions. We will explore how application‐inspired research has exploited cation‐controlled design to discover new POM materials, which in turn has led to the quest for fundamental understanding of POM–cation interactions.
Enhanced Electrocatalytic N2 Reduction via Partial Anion Substitution in Titanium Oxide–Carbon Composites
Authors: Qin Qing , Zhao Yun , Schmallegger Max , Heil Tobias , Schmidt Johannes , Walczak Ralf , Gescheidt‐Demner Georg , Jiao Haijun , Oschatz Martin 
Published: July 2019

AbstractThe electrochemical conversion of N2 at ambient conditions using renewably generated electricity is an attractive approach for sustainable ammonia (NH3) production. Considering the chemical inertness of N2, rational design of efficient and stable catalysts is required. Therefore, in this work, it is demonstrated that a C‐doped TiO2/C (C‐TixOy/C) material derived from the metal–organic framework (MOF) MIL‐125(Ti) can achieve a high Faradaic efficiency (FE) of 17.8 %, which even surpasses most of the established noble metal‐based catalysts. On the basis of the experimental results and theoretical calculations, the remarkable properties of the catalysts can be attributed to the doping of carbon atoms into oxygen vacancies (OVs) and the formation of Ti−C bonds in C‐TixOy. This binding motive is found to be energetically more favorable for N2 activation compared to the non‐substituted OVs in TiO2. This work elucidates that electrochemical N2 reduction reaction (NRR) performance can be largely improved by creating catalytically active centers through rational substitution of anions into metal oxides.
An elevated creatine kinase in the context of influenza A infection and sickle cell trait
Authors: Bamber H. , Rudge B. , Vercueil A. 
Published: July 2019

SummaryWe describe the case of a 37‐year‐old normally fit and well man who presented to hospital with fever, lethargy and myalgia. He was found to have a creatine kinase level of over 1 million IU.l−1. He initially underwent fluid resuscitation, but despite this his renal function declined and he required continuous veno‐venous haemodiafiltration. Subsequent testing revealed a positive viral swab for influenza A and that he was a carrier of sickle cell trait. We review the literature for previous reports describing this association and demonstrate the rarity of such a presentation.
Molecular imprint enhanced specific adsorption visualization on electrospun chromogenic membrane for efficient detection of putrescine
Authors: Ying Xiaoguang , Kang Anshun , Zhu Xiaomei , Li Xiao 
Published: July 2019

ABSTRACTElectrospinning is an important tool for generating continuous fibers with large surface area and high pore ratio. The combination of nanofiber membrane and molecular imprinting can effectively measure specific adsorption of putrescine with coloring procedure. In this work, molecularly imprinted electrospun chromogenic membrane was synthesized with 1,4‐butanediol (BDO) as imitate template. Poly(vinyl alcohol) (PVA) is used as spinning solution and ninhydrin as chromogenic agent for visualizing detection of target molecular putrescine. The adsorption concentration on molecularly imprinted polymer is illustrated by blue‐purple colored stains and recorded by interactive three‐dimensional surface plot of ImageJ. The results indicated that a uniform and bead‐free PVA nanofiber was obtained using 10% (w/w) PVA solution, 15 kV voltage, 15 cm spinning distance, and 600 rpm roller speed. Also, the adsorption performance of molecular imprinting chromogenic membrane was investigated in detail, showing a higher adsorption capacity of 33.16 μg cm−2 and maximum imprinting efficiency of 2.30 under the best recognition conditions of 315 μL ninhydrin, 0.25% (w/w) BDO, and 0.4 cm sensing distance, as well as a short adsorption equilibrium time of 40 min. In addition, three amine competitors were discussed to reveal the better selectivity and higher specific recognition ability in the imprinted membrane.HIGHLIGHTS
The molecular imprinting and coloring structure is constructed in nanofiber membrane with an enhanced specific surface area.
The adsorption on imprinted membrane is visualized by chromogenic reaction between putrescine and ninhydrin to form a three‐dimensional interactive surface proceeded using the ImageJ software.
The imprinted nanofiber membrane with large area and high pore ratio is applied in detecting target in trace concentration within shortened time. © 2019 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2019, 136, 48186.
Analysis of the performance and mechanism of desulfurized rubber and low‐density polyethylene compound‐modified asphalt
Authors: Liu Shengjie , Zhou Sheng Bo , Peng Aihong , Xuan Weian , Li Wu 
Published: July 2019

ABSTRACTDesulfurized rubber (DR) and low‐density polyethylene (LDPE) were used to modify bitumen. The basic physical properties, rheological properties, chemical composition, thermogravimetric behavior, and morphological characteristics were determined and evaluated to analyze the performance and mechanism of DR and LDPE compound‐modified asphalt. A series of experiments (e.g., conventional test methods, rotational viscosity, storage stability, and dynamic shear rheometer tests), Fourier transform infrared spectroscopy, thermogravimetric analysis–differential scanning calorimetry, fluorescence microscopy, and atomic force microscopy were conducted. The results revealed that DR‐modified asphalt (DRMA) had increases in the penetration, ductility, softening point, and penetration index by 30.2, 22.3, 3.5, and 11.1%, respectively, over the crumb rubber‐modified asphalt (CRMA). The compatibility between the asphalt and modifier is better for DRMA than for CRMA. These findings indicate that DRMA has a better pavement performance than CRMA. Furthermore, compared with DR‐modified bitumen, LDPE inclusions increased the value of G*/sin δ by at least 75.9% and improved the thermal properties. Morphological observations confirmed that the DR/LDPE additives were better dispersed than crumb rubber and formed a more homogeneous phase separation in the asphalt. © 2019 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2019, 136, 48194.