bluuebunny/crossref_metadata_2025_split huggingface dataset:
Autism Spectrum Disorders: Genes and Genomic Mechanisms
Authors: Guerra Daniel J 
Published: March 2017

Abstract

Autism spectrum disorder is a gene‐associated disease with strong indications for environmental interaction resulting in appreciable de novo mutations that link to genes that carry functions nested within neural and immune loci. Major functions of these genes are as transcription factors, adhesion molecules, metabolic regulatory enzymes and signalling proteins. Associated with the syndromic mutations are a cluster of genes that support their functionality via a network of activity that is developmentally linked to neural development and the immune response. The mechanism that connects these diverse genomic associations may involve deoxyribonucleic acid (DNA) damage repair and chromosomal instability that have complementing recombination, excision, duplication and substitution reactions along with epigenetic modifications. This suggested mechanism would alter both the level and timing of gene expression at specific loci. The immune response may play a key role in the occurrence and severity of autism. Future research should include careful analyses of these potential genomic mechanisms that may not in themselves present with specific nucleotide variations, but rather with an alteration of chromatin remodelling as modified by inflammation and repair at discrete periods of early neural development.

Key Concepts

Autism spectrum disorder genes are diverse in structure and function but have a common link to neural development and the immune response.

Genetic alterations including single nucleotide variations/polymorphisms are one element of autism genomics.

Copy number variations and alteration in gene product level and timing of expression are part of the mechanism for the variation in syndromic autism genomics.

Proinflammatory cytokines play a significant role in autism spectrum disorders and these may be expressed and secreted in response to environmental stimuli including infection with pathogens during gestation and antigen presentation during pregnancy and early childhood development.

A potential mechanism linking the immune response to discrete autism associated genetic mutations may involve chromatin instability and remodelling and DNA repair.
Sendai Mediatheque: Toyo Ito
Authors: Witte Ron 
Published: March 2017

Abstract
In recent architecture a new type of plan has been afoot. It has been stealing into architecture for a decade or two, perhaps longer, alternately announcing and obscuring its arrival via the paroxysms that come with a long gestation. Does this plan signal a significant architectural turn? It is hard to say, for as yet it is more of a twinkle in its parents’ eye than an established progeny, insinuating its potential without yet assuring us of its longevity, or even its vivacity. Nonetheless, this plan has made it far enough along an accelerating arc to make it worth looking at its origins, its manifestations, and (most importantly) its promises.
Evaluation of dose calculation accuracy of treatment planning systems at hip prosthesis interfaces
Authors: Paulu David , Alaei Parham 
Published: March 2017

AbstractThere are an increasing number of radiation therapy patients with hip prosthesis. The common method of minimizing treatment planning inaccuracies is to avoid radiation beams to transit through the prosthesis. However, the beams often exit through them, especially when the patient has a double‐prosthesis. Modern treatment planning systems employ algorithms with improved dose calculation accuracies but even these algorithms may not predict the dose accurately at high atomic number interfaces.The current study evaluates the dose calculation accuracy of three common dose calculation algorithms employed in two commercial treatment planning systems. A hip prosthesis was molded inside a cylindrical phantom and the dose at several points within the phantom at the interface with prosthesis was measured using thermoluminescent dosimeters. The measured doses were then compared to the predicted ones by the planning systems.The results of the study indicate all three algorithms underestimate the dose at the prosthesis interface, albeit to varying degrees, and for both low‐ and high‐energy x rays. The measured doses are higher than calculated ones by 5–22% for Pinnacle Collapsed Cone Convolution algorithm, 2–23% for Eclipse Acuros XB, and 6–25% for Eclipse Analytical Anisotropic Algorithm. There are generally better agreements for AXB algorithm and the worst results are for the AAA.
Risk of Autism Spectrum Disorders in Children Born to Mothers With Rheumatoid Arthritis: A Systematic Literature Review
Authors: Wojcik Sophie , Bernatsky Sasha , Platt Robert W. , Pineau Christian A. , Clarke Ann E. , Fombonne Éric , Bérard Anick , Vinet Évelyne 
Published: March 2017

ObjectiveThere is recent evidence to suggest that in utero exposure to maternal antibodies and cytokines is an important risk factor for autism spectrum disorders (ASDs). We aimed to systematically review the risk of ASDs in children born to mothers with rheumatoid arthritis (RA) compared to children born to mothers without RA.MethodsWe conducted a systematic review of original articles using the electronic databases PubMed, Embase, and Web of Science.ResultsOur literature search yielded a total of 70 articles. Of the potentially relevant studies retrieved, 67 were excluded for lack of relevance and/or because they did not report original data. Three studies were included in the final analysis. A case–control study found no difference in the prevalence of RA in mothers of children with ASDs versus control mothers. Another case–control study showed a statistically significant 8‐fold increase in autoimmune disorders, including RA, in mothers of offspring with ASDs compared to controls. Forty‐six percent of offspring with ASDs had a first‐degree relative with RA, compared to 26% of controls. And in a population‐based cohort study, investigators observed an increased risk of ASDs in children with a maternal history of RA compared to children born to unaffected mothers. These studies had methodologic limitations: none controlled for medication exposures, only 1 controlled for obstetric complications and considered the timing of RA diagnosis in relation to pregnancy, and all but 1 used a case–control study design.ConclusionObservational studies suggest a potentially increased risk of ASDs in children born to mothers with RA compared to children born to mothers without RA, although data are limited.
Dynamic Effects of Depressive Symptoms on Osteoarthritis Knee Pain
Authors: Rathbun Alan M. , Stuart Elizabeth A. , Shardell Michelle , Yau Michelle S. , Baumgarten Mona , Hochberg Marc C. 
Published: March 2017

ObjectiveTo estimate the dynamic causal effects of depressive symptoms on osteoarthritis (OA) knee pain.MethodsMarginal structural models were used to examine dynamic associations between depressive symptoms and pain over 48 months among older adults (n = 2,287) with radiographic knee OA (Kellgren/Lawrence grade 2 or 3) in the Osteoarthritis Initiative. Depressive symptoms at each annual visit were assessed (threshold ≥16) using the Center for Epidemiologic Studies Depression Scale. OA knee pain was measured using the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) pain subscale, rescaled to range from 0 to 100.ResultsDepressive symptoms at each visit were generally not associated with greater OA knee pain at subsequent time points. Causal mean differences in WOMAC pain score comparing depressed to nondepressed patients ranged from 1.78 (95% confidence interval [95% CI] −0.73, 4.30) to 2.58 (95% CI 0.23, 4.93) within the first and fourth years, and the depressive symptoms by time interaction were not statistically significant (P = 0.94). However, there was a statistically significant dose‐response relationship between the persistence of depressive symptoms and OA knee pain severity (P = 0.002). Causal mean differences in WOMAC pain score comparing depressed to nondepressed patients were 0.89 (95% CI −0.17, 1.96) for 1 visit with depressive symptoms, 2.35 (95% CI 0.64, 4.06) for 2 visits with depressive symptoms, and 3.57 (95% CI 0.43, 6.71) for 3 visits with depressive symptoms.ConclusionThe causal effect of depressive symptoms on OA knee pain does not change over time, but pain severity significantly increases with the persistence of depressed mood.
Photoluminescence Tuning in Stretchable PDMS Film Grafted Doped Core/Multishell Quantum Dots for Anticounterfeiting
Authors: Li Fei , Wang Xiandi , Xia Zhiguo , Pan Caofeng , Liu Quanlin 
Published: March 2017

The development of new luminescent materials for anticounterfeiting is of great importance, owing to their unique physical, chemical, and optical properties. The authors report the use of color‐tunable colloidal CdS/ZnS/ZnS:Mn2+/ZnS core/multishell quantum dots (QDs)‐functionalized luminescent polydimethylsiloxane film (LPF) for anticounterfeiting applications. Both luminescent QDs and as‐fabricated, stretchable, and transparent LPF show blue and orange emission simultaneously, which are ascribed to CdS band‐edge emission and the 4T1 → 6A1 transition of Mn2+, respectively; their emission intensity ratios are dependent on the power‐density of a single‐wavelength excitation source. Additionally, photoluminescence tuning of CdS/ZnS/ZnS:Mn2+/ZnS QDs in hexane or embedded in LPF can also be realized under fixed excitation power due to a resonance energy transfer effect. Tunable photoluminescence of these flexible LPF grafted doped core/shell QDs can be finely controlled and easily realized, depending on outer excitation power and intrinsic QD concentration, which is intriguing and inspires the fabrication of many novel applications.
Photosensitizer‐Free, Gold‐Catalyzed C–C Cross‐Coupling of Boronic Acids and Diazonium Salts Enabled by Visible Light
Authors: Witzel Sina , Xie Jin , Rudolph Matthias , Hashmi A. Stephen K. 
Published: March 2017

AbstractThe first photosensitizer‐free visible light‐driven, gold‐catalyzed C–C cross‐couplings of arylboronic acids and aryldiazonium salts are reported. The reactions can be conducted under very mild conditions, using a catalytic amount of tris(4‐trifluoromethyl)phosphinegold(I) chloride [(4‐CF3‐C6H4)3PAuCl] with methanol as the solvent allowing an alternative access to a variety of substituted biaryls in moderate to excellent yields with broad functional group tolerance.magnified image
Numerical simulation and experimental study of filling process of micro prism by isothermal hot embossing in solid‐like state
Authors: Sun Jingyao , Wu Daming , Liu Ying , Dai Le , Jiang Chong 
Published: March 2017

AbstractFilling process of micro prism array by isothermal hot embossing in solid‐like state (IHESS) with different mold temperature, pressure, and holding time were simulated by DEFORM. Polymethyl methacrylate (PMMA) samples processing by IHESS were tested to validate the numerical simulation results and select the best processing condition. The reliability of simulation was tested quantitatively and qualitatively by comparing the cross‐profile and its developing trend separately. It was found that the cross‐profiles from the simulations and experiments were in high agreement. The simulated and experimental developing trends of cross‐profiles were also the same. These results proved the reliability of simulation and its guidance to the experiments. In order to show the advantages of IHESS, a brief introduction and comparison of IHESS and traditional hot embossing were made.
Limb bone allometry in modern Euro‐Americans
Authors: Jantz R. L. , Meadows Jantz L. 
Published: March 2017

AbstractObjectivesThe pattern of static and secular allometry was examined in a time series of limb bone lengths from individuals with birth years ranging from 1840 to 1989. The main hypothesis investigated was that secular changes in limb proportions, as seen in changes in the brachial and crural indices, can be explained by allometric responses to increasing size.Materials and MethodsMaximum lengths of humerus, radius, femur, and tibia were obtained from 19th and 20th centuries identified skeletons. Allometry was investigated on two levels, static and secular. Static allometry was defined as average allometry within 20‐year birth cohorts, and secular allometry as allometry among birth year cohorts. Allometry was assessed by extracting eigenvectors from covariance matrices of log transformed variables. Departures from allometry were examined using shape variables, and principal components of minor axes.ResultsStatic covariance matrices were homogeneous. Eigenvectors extracted from the secular covariance matrix showed important departures from static allometry, particularly a much stronger negative allometry of the humerus and a stronger positive allometry of the tibia. Shape analysis showed that relative humerus length decreased significantly over the time period examined and relative tibia length increased. The last principal component, which combined aspects of the brachial and crural index, showed the highest variation among birth year cohorts.DiscussionThe results demonstrate that the secular changes in limb proportions cannot be explained by allometric responses to increasing size alone. The majority of variation among birth cohorts is found on the last PC and that suggests that canalized development has been disrupted by the unique environment in which modern Americans now live.
Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency
Authors: Lopez‐Gomez Carlos , Levy Rebecca J. , Sanchez‐Quintero Maria J. , Juanola‐Falgarona Martí , Barca Emanuele , Garcia‐Diaz Beatriz , Tadesse Saba , Garone Caterina , Hirano Michio 
Published: March 2017

ObjectiveThymidine kinase 2 (TK2), a critical enzyme in the mitochondrial pyrimidine salvage pathway, is essential for mitochondrial DNA (mtDNA) maintenance. Mutations in the nuclear gene, TK2, cause TK2 deficiency, which manifests predominantly in children as myopathy with mtDNA depletion. Molecular bypass therapy with the TK2 products, deoxycytidine monophosphate (dCMP) and deoxythymidine monophosphate (dTMP), prolongs the life span of Tk2‐deficient (Tk2–/–) mice by 2‐ to 3‐fold. Because we observed rapid catabolism of the deoxynucleoside monophosphates to deoxythymidine (dT) and deoxycytidine (dC), we hypothesized that: (1) deoxynucleosides might be the major active agents and (2) inhibition of deoxycytidine deamination might enhance dTMP+dCMP therapy.MethodsTo test these hypotheses, we assessed two therapies in Tk2–/– mice: (1) dT+dC and (2) coadministration of the deaminase inhibitor, tetrahydrouridine (THU), with dTMP+dCMP.ResultsWe observed that dC+dT delayed disease onset, prolonged life span of Tk2‐deficient mice and restored mtDNA copy number as well as respiratory chain enzyme activities and levels. In contrast, dCMP+dTMP+THU therapy decreased life span of Tk2–/– animals compared to dCMP+dTMP.InterpretationOur studies demonstrate that deoxynucleoside substrate enhancement is a novel therapy, which may ameliorate TK2 deficiency in patients. Ann Neurol 2017;81:641–652
Asymmetric Grignard Synthesis of Tertiary Alcohols through Rational Ligand Design
Authors: Bieszczad Bartosz , Gilheany Declan G. 
Published: March 2017

AbstractA simple, general and practical method is reported for highly enantioselective construction of tertiary alcohols through the direct addition of organomagnesium reagents to ketones. Discovered by rational ligand design based on a mechanistic hypothesis, it has an unprecedented broad scope. It utilizes a new type of chiral tridentate diamine/phenol ligand that is easily removed from the reaction mixture. It is exemplified by application to a formal asymmetric synthesis (>95:5 d.r.) of vitamin E.
Chemoselective Alteration of Fluorophore Scaffolds as a Strategy for the Development of Ratiometric Chemodosimeters
Authors: Zhou Xinqi , Lesiak Lauren , Lai Rui , Beck Jon R. , Zhao Jia , Elowsky Christian G. , Li Hui , Stains Cliff I. 
Published: March 2017

AbstractRatiometric sensors generally couple binding events or chemical reactions at a distal site to changes in the fluorescence of a core fluorophore scaffold. However, such approaches are often hindered by spectral overlap of the product and reactant species. We provide a strategy to design ratiometric sensors that display dramatic spectral shifts by leveraging the chemoselective reactivity of novel functional groups inserted within fluorophore scaffolds. As a proof‐of‐principle, fluorophores containing a borinate (RF620) or silanediol (SiOH2R) functionality at the bridging position of the xanthene ring system are developed as endogenous H2O2 sensors. Both these fluorophores display far‐red to near‐infrared excitation and emission prior to reaction. Upon oxidation by H2O2 both sensors are chemically converted to tetramethylrhodamine, producing significant (≥66 nm) blue‐shifts in excitation and emission maxima. This work provides a new concept for the development of ratiometric probes.
Manganese‐Catalyzed N‐Formylation of Amines by Methanol Liberating H2: A Catalytic and Mechanistic Study
Authors: Chakraborty Subrata , Gellrich Urs , Diskin‐Posner Yael , Leitus Gregory , Avram Liat , Milstein David 
Published: March 2017

AbstractThe first example of a base metal (manganese) catalyzed acceptorless dehydrogenative coupling of methanol and amines to form formamides is reported herein. The novel pincer complex (iPr‐PNHP)Mn(H)(CO)2 catalyzes the reaction under mild conditions in the absence of any additives, bases, or hydrogen acceptors. Mechanistic insight based on the observation of an intermediate and DFT calculations is also provided.
Mesoscale Polarization by Geometric Frustration in Columnar Supramolecular Crystals
Authors: Zehe Christoph S. , Hill Joshua A. , Funnell Nicholas P. , Kreger Klaus , van der Zwan Kasper P. , Goodwin Andrew L. , Schmidt Hans‐Werner , Senker Jürgen 
Published: March 2017

AbstractColumnar supramolecular phases with polarization along the columnar axis have potential for the development of ultrahigh‐density memories as every single column might function as a memory element. By investigating structure and disorder for four columnar benzene‐1,3,5‐trisamides by total X‐ray scattering and DFT calculations, we demonstrate that the column orientation, and thus the columnar dipole moment, is receptive to geometric frustration if the columns aggregate in a hexagonal rod packing. The frustration suppresses conventional antiferroelectric order and heightens the sensitivity towards collective intercolumnar packing effects. The latter finding allows for the building up of mesoscale domains with spontaneous polarization. Our results suggest how the complex interplay between steric and electrostatic interactions is influenced by a straightforward chemical design of the molecular synthons to create spontaneous polarization and to adjust mesoscale domain size.
Rhodium‐Catalyzed Enantioselective Isomerization of meso‐Oxabenzonorbornadienes to 1,2‐Naphthalene Oxides
Authors: Yen Andy , Choo Ken‐Loon , Yazdi Shabnam K. , Franke Patrick T. , Webster Robert , Franzoni Ivan , Loh Charles C. J. , Poblador‐Bahamonde Amalia I. , Lautens Mark 
Published: March 2017

AbstractHerein we describe a rhodium‐catalyzed enantioselective isomerization of meso‐oxabicyclic alkenes to 1,2‐naphthalene oxides. These potentially useful building blocks can be accessed in moderate to excellent yields with impressive enantioselectivities. Additionally, experimental findings supported by preliminary computations suggest that ring‐opening reactions of bridgehead disubstituted oxabicyclic alkenes proceed through the intermediacy of these epoxides and may point to a kinetically and thermodynamically favored reductive elimination as the origin for the observed enantioselectivities.
Effect of vapor phase ethylenediamine crosslinking of matrimid on alcohol vapor sorption and diffusion
Authors: Stanford John P. , Pfromm Peter H. , Rezac Mary E. 
Published: March 2017

ABSTRACTThis work examines the sorption, diffusion, and polymer relaxation behavior for water and C1‐C7 alcohol vapors at 30  °C in ethylenediamine vapor‐phase crosslinked Matrimid. Ethylenediamine is sufficiently volatile that crosslinking can occur by exposing the polymeric film to saturated vapor, in contrast to more conventional means of dissolving the crosslinker in a solvent and immersing the polymeric film in the solution. The vapor‐phase exposure method avoids the use of additional solvent and undesired solvent‐induced swelling. Sorption isotherms demonstrate that water and C1‐C5 alcohols do not appreciably differ for unmodified and crosslinked Matrimid; however, an approximate 90% reduction in sorption was determined for hexanol and heptanol. A minor impact on diffusion coefficients for water, methanol, and ethanol was observed, while those of propanol and butanol were reduced over an order of magnitude. Relaxation kinetics were similarly unchanged for water and C1‐C3 alcohols, while being significantly reduced for butanol and higher alcohols. © 2017 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2017, 134, 44771.
Enhanced dielectric properties of poly(vinylidene fluoride)–surface functionalized BiFeO3 composites using sodium dodecyl sulfate as a modulating agent for device applications
Authors: Mishra Mukesh K. , Moharana Srikanta , Mahaling R. N. 
Published: March 2017

ABSTRACTIn this work, we prepared a series of poly(vinylidene fluoride) (PVDF)–surface functionalized BiFeO3 (h‐BFO)–Sodium dodecyl sulfate (SDS) composite films by solvent casting method to investigate the effect of SDS in the composites. The X‐ray diffraction confirmed that the structure of h‐BFO significantly changed in the PVDF‐(h‐BFO)‐SDS composite in comparison with the rhombohedral structure of pure BiFeO3. The microscopic study illustrated that the composite with a higher percentage of SDS content facilitated the dispersion as well as proper distribution of ceramic particles in the polymer matrix. The presence of different functionalities of respective polymer and the modified fillers was confirmed by FTIR Spectrophotometer. The dielectric and electrical study done by Impedance Analyzer revealed that the SDS treated surface functionalized composites showed relatively higher dielectric properties than that of two phase composites and pure polymer. Finally, the ferroelectric properties of the composite films done by P‐E loop tracer revealed that the SDS‐treated composites showed an enhanced remanent polarization. © 2017 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2017, 134, 45040.
Surface‐Triggered Tandem Coupling Reactions of Cyclic Azasilanes
Authors: Pan Youlin , Maddox Annalese , Min Taewoo , Gonzaga Ferdinand , Goff Jonathan , Arkles Barry 
Published: March 2017

AbstractCyclic azasilanes have been synthesized for the purpose of developing coupling agents appropriate for a variety of nanotechnologies including surface modification of nanoparticles, nanocrystals, mesoporous materials and substrates. N‐Methyl‐aza‐2,2,4‐trimethylsilacyclopentane is representative of this class of compounds. Preliminary data for the treatment of inorganic surfaces, including nanoparticles and oxidized silicon wafers, with cyclic azasilanes suggest high‐density monolayer deposition by a ring‐opening reaction. Cyclic azasilanes contain a cryptic amine functionality that can perform a subsequent tandem coupling reaction with functional molecules after the surface‐triggered ring‐opening reaction, allowing for a one‐pot self‐assembly route on nanostructures. Tandem coupling reactions are demonstrated via addition reactions of the cryptic amine with epoxy and acrylate systems.