bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular Genetics of Dystrophinopathies
Authors: Ferlini Alessandra , Neri Marcella 
Published: March 2014

Abstract

The term dystrophinopathies includes a spectrum of muscle diseases caused by mutations in the dystrophin (
DMD
) gene. The commonest mutations are intragenic deletions (65% of cases) and duplications (10%); the remaining 25% are small mutations (missense, nonsense, frameshifting and indels). Atypical mutations (deep intronic, or in 5′/3′ untranslated regions) account for no more than 1%. The functional consequences of mutations are related to the maintenance of the open reading frame, though exceptions to the rule are known. A precise molecular characterisation of dystrophin mutations is nowadays mandatory for the inclusion of patients in therapeutic trials, as the antisense‐mediated targeted exon skipping or the stop codon reversion uses gentamycin and ataluren drugs. Understanding the complexity of the dystrophin gene regulation has provided outstanding information about muscle functions, sarcolemma architecture and signalling circuits, muscle metabolism and other basic science mechanisms.

Key Concepts:

The dystrophin gene (
DMD
) is one of the largest disease genes in the human genome.

Dystrophin deficiency accounts for different allelic conditions: Duchenne and Becker muscular dystrophies (DMD/BMD) are X‐linked recessive hereditary myopathies in which the skeletal muscle is affected with a nonreversible, age‐dependent degeneration. Allelic dystrophin mutations can also give rise to isolated cardiac involvement, or X‐linked dilated cardiomyopathy (XLDC).

The commonest mutational event in the dystrophin gene is represented by intragenic deletions accounting for 65% of dystrophin mutations. Intragenic duplications account for 10% of all mutations and small mutations represent 25%.

The functional consequences of all mutation types are mainly related to the maintenance of the open reading frame: ‘inframe’ mutations result in a shorter but partially functional dystrophin and are associated with BMD. Frame‐shift mutations are related to the absence of protein production and a DMD phenotype.

The fine genetic characterisation of dystrophin mutations has become mandatory for making patients eligible for novel personalised trials.
Development of a novel robust identification scheme for nonlinear dynamic systems
Authors: George Nithin V. , Panda Ganapati 
Published: March 2014

SummaryThis paper presents a set of single layer low complexity nonlinear adaptive models for efficient identification of dynamic systems in the presence of outliers in the training signal. The weights of the new models have been updated using a new robust learning algorithm. The proposed robust algorithm is based on adaptive minimization of Wilcoxon norm of errors. The computational complexity associated with the new models has further been reduced by processing the input in block form and using a newly derived robust block learning algorithm. Through exhaustive simulation study of many benchmark identification examples, it has been shown that in all cases, the new models provide enhanced and robust identification performance compared with that provided by the corresponding conventional squared error‐based approaches. Copyright © 2014 John Wiley & Sons, Ltd.
Sodium Iodide/tert‐Butyl(dimethyl)silyl Chloride‐Induced Isomerization of 2,3‐Allenols to 2(E)‐Enals
Authors: Zeng Rong , Ma Zhichao , Fu Chunling , Ma Shengming 
Published: March 2014

AbstractThrough an unexpected CC bond migration, 2(E)‐enals were efficiently prepared highly stereoselectively in moderate to good yields via the sodium iodide/tert‐butyl(dimethyl)silyl chloride (NaI/TBSCl)‐mediated reaction of the easily available 2,3‐allenols. Based on a careful mechanistic study, including control experiments and deuterium‐labeling experiments, an electron‐withdrawing substituent group in the 4 position has been proven to be crucial and a possible mechanism has been proposed.magnified image
Electronic Effects in Carbene‐Mediated CH Bond Functionalization: An Experimental and Theoretical Study
Authors: Boultadakis‐Arapinis Mélissa , Gandon Vincent , Prost Elise , Micouin Laurent , Lecourt Thomas 
Published: March 2014

AbstractIn this article, we show that short‐distance and long‐range electronic effects are strongly affecting the mechanism and stereoselectivity of Rh(II)‐carbene mediated CH functionalization processes. Based on experimental studies with deuterium‐labelled carbohydrates and DFT calculations, we show that the orientation of the lone pairs of adjacent heteroatoms, as well as the nature of substituents located far from the reaction center, are inducing a shift from the classical concerted mechanism to the less common stepwise process. Furthermore, we reveal that the stereochemical outcome of these transformations is depending on the relative energies of the CH bond activation and Rh(II)‐carbene isomerization barriers. The formation of a single diastereoisomer is thus resulting from Curtin–Hammet‐like kinetics when insertion occurs in poorly activated CH bonds. However, the formation of diastereoisomeric mixtures is resulting from two disconnected and totally stereoselective transformations when the reactivity of the CH bonds towards electrophilic metallocarbenes is increased by short‐distance or long‐range electronic effects.Abbreviations:Rh: rhodium; Bn: benzyl; Bz: benzoyl; Me: methyl;t‐Bu:tert‐butyl; Ph: phenyl; Ac: acetyl; ClAc: chloroacetyl; TBDMS:tert‐butyldimethylsilyl; TMS: trimethylsilyl; D: deuterium; P: protecting group; L: ligand; THF: tetrahydrofuran; DFT: density functional theory; TS: transition state; BO: bond order; NMR: nuclear magnetic resonance; MS: mass spectrometry; NOE: nuclear Overhauser effect.magnified image
Physical and thermal characterization of polylactic acid meltblown nonwovens
Authors: Hammonds Ryan L. , Gazzola William H. , Benson Roberto S. 
Published: March 2014

ABSTRACTA series of polylactic acid (PLA) nonwovens were prepared by the melt blowing process using micro and nano dies. The nonwovens were characterized for structural, thermal, and mechanical properties. These properties varied with the type of die, airflow, and die to collector distance (DCD). The mean pore size for PLA microfiber ranged between 1.82 and 10.48 micrometers, and nanofiber nonwovens ranged between 452 and 818 nanometers. The tensile modulus and strength of PLA nonwovens increased with airflow at a given DCD, but decreased with increased DCD for a given airflow. Thermograms from calorimetry showed microfiber mats had a larger composition of beta‐form crystals than the nanofiber mats. The results showed that a wide range of nonwovens can easily be generated with properties tailored to the specific application. © 2014 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 40593.
Simultaneous polypropylene functionalization and nanoclay dispersion in PP/Clay nanocomposites using ultrasound
Authors: Martínez‐Colunga Juan G. , Sánchez‐Valdés Saul , Ramos‐deValle L. F. , Muñoz‐Jiménez Libertad , Ramírez‐Vargas Eduardo , Ibarra‐Alonso Maria Cristina. , Lozano‐Ramirez Tomas , Lafleur Pierre G. 
Published: March 2014

ABSTRACTPolypropylene nanocomposite materials were prepared with 5 and 10 wt % cloisite C20A clay, jointly with 0.6 and 1.2 wt % of maleic anhydride (MA) for the simultaneous polymer functionalization and clay dispersion in a twin screw extruder assisted with ultrasonic irradiation, using different sonication intensities (231, 347, and 462 W, which correspond to 30%, 45%, and 60% of the maximum instrument intensity, “770 W”) all in a single‐step operation. The MA polymer functionalization was followed by FTIR spectroscopy and determined by titration. The increase in modulus of the obtained PP/Clay nanocomposites was attributed to the greater dispersion level, presumably achieved becuase of the joint application of the PP–Clay compatibilization with MA and the sonication during processing in a twin screw extruder. The greater level of clay dispersion was verified by the displacement of the XRD diffraction peak to lower angles, indicating an intercalated‐exfoliated structure that was corroborated by STEM. © 2014 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 40631.
Structure and mechanical properties of crosslinked glycidyl azide polymers via click chemistry as potential binder of solid propellant
Authors: Hu Chong , Guo Xiang , Jing Yihan , Chen Jun , Zhang Chao , Huang Jin 
Published: March 2014

ABSTRACTDepending upon the advantages of high efficiency, insensitivity to humidity and so on, the reaction of azide groups in glycidyl azide polymers (GAP) with alkynyl compounds has been used as a substitute of the urethane curing strategy to develop GAP‐based binder for solid propellant. In this work, an alkynyl compound of dimethyl 2,2‐di(prop‐2‐ynyl)malonate (DDPM) reacted with GAP to produce new crosslinked materials under the catalysis of Cu(I)Cl at ambient temperature, and showed great potential as a binder in composite propellant. As the feeding molar ratio of DDPM vs. GAP increased from 1 : 1 to 5 : 1, the crosslinking densities of as‐prepared materials gradually increased, together with simultaneous enhancement of Young's modulus and tensile strength. The breaking elongation showed the maximum value of ca. 82% when the feeding molar ratio of DDPM vs. GAP was 3 : 1. In addition, with an increase of the crosslinking densities, the glass transition temperatures of as‐prepared materials significantly increased from −43.9°C to −5.1°C while the mechanical loss peaks also gradually broadened and shifted up to high temperature, and even presented two peaks at the feeding molar ratio of DDPM vs. GAP higher than 4 : 1. It indicated that the formation of triazole‐based network resulted in structural heterogeneity in the as‐prepared materials. © 2014 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 40636.
Flame retardancy and mechanical properties of polyamide 6 with melamine polyphosphate and ionic liquid surfactant‐treated montmorillonite
Authors: Zhang Ri‐Chao , Hong Soon Man , Koo Chong Min 
Published: March 2014

ABSTRACTThe mechanical properties and inflammability of polyamide 6 (PA6) nanocomposites incorporated with Montmorillonite organoclay (MMT) modified with thermal stable ionic liquid surfactants were investigated. The compatibility between ionic liquid‐treated MMT and PA6 matrix was improved and the intercalation morphology was achieved, which resulted in the increaseof tensile modulus. However, the addition of organo‐MMTs alone did not improve the inflammability of the PA6 nanocomposite, because of strong melt‐dripping behavior of PA6 matrix. Addition of auxiliary melamine polyphosphate (MPP) intumescent flame retardant to the nanocomposite prevented the melt dripping and enhanced inflammability performance. The enhanced inflammability of PA6/organoclay/MPP nanocomposites was attributed to the synergistic effect between imidazolium or phosphonium organo‐MMTs and intumescent flame retardant MPP. © 2014 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 40648.
Polymer networks based in (4‐vinylbenzyl)‐N‐methyl‐D‐glucamine supported on microporous polypropylene layers with retention boron capacity
Authors: Palencia Manuel , Vera Myleidi , Combatt Enrique 
Published: March 2014

ABSTRACTNew cellulose porous layers, with capacity to transport and retain boron from aqueous solution, were developed via interpenetrating polymer network (IPNs). These polymer systems were made to assemble mimetic systems of plant root tissue for the study of available boron transport. For that cellulose porous layers supported on polypropylene matrix were used as primary network for the formation of IPN. A vinyl monomer, (4‐vinylbenzyl)‐N‐methyl‐d‐glucamine (VbNMDG), was synthesized at three concentration levels and cellulose ultrafiltration membranes were modified by in situ polymerization in the inside of the pores. Change of hydrophilicity, percent of secondary network, permeability and retention properties were studied. The formation of IPNs in the inside of the pores decreased the permeabilities of polymer layers. In addition, a decrease of hydrophilicity was seen. A linear increase of boron retention in function of VbNMDG concentrations was observed for the different boron concentrations and a negative effect on retention capability was evidenced for several charge and discharge cycles. © 2014 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 40653.
Monocular Camera based Trajectory Tracking of 3‐DOF Helicopter
Authors: Li Shuailing , Liu Hao , Shi Zongying , Zhong Yisheng 
Published: March 2014

AbstractThe vision based flight control problems of unmanned micro aerial vehicles (MAVs) have attracted much attention in recent years. This paper presents a new solution to the trajectory tracking problem of a three‐degrees‐of‐freedom (3‐DOF) helicopter by utilizing only an onboard monocular camera without any artificial marker. First, the parallel tracking and mapping (PTAM) algorithm, which is a famous solution to the visual simultaneous localization and mapping (vSLAM) problem, is employed to estimate the attitude angles of the 3‐DOF helicopter. Then the calibration puzzle of the mapping between the onboard camera and helicopter coordinate systems is turned into an optimization problem. A robust cost function is applied to get the accurate estimate of the mapping. Finally, for the purpose of alleviating the influences of nonlinearity and coupling between channels, the feedback linearization (FL) and the linear quadratic regulation (LQR) techniques are employed to design the controller. Experimental results show that the proposed method can ensure that the helicopter hovers without drift and has good tracking performance.
The development and expression of physical nicotine dependence corresponds to structural and functional alterations in the anterior cingulate‐precuneus pathway
Authors: Huang Wei , King Jean A. , Ursprung W. W. Sanouri , Zheng Shaokuan , Zhang Nanyin , Kennedy David N. , Ziedonis Douglas , DiFranza Joseph R. 
Published: March 2014

AbstractIntroductionPerturbations in neural function provoked by a drug are thought to induce neural adaptations, which, in the absence of the drug, give rise to withdrawal symptoms. Previously published structural data from this study indicated that the progressive development of physical dependence is associated with increasing density of white matter tracts between the anterior cingulum bundle and the precuneus.MethodsUsing functional magnetic resonance imaging, we compared 11 smokers after 11 h of abstinence from nicotine and after satiation, with 10 nonsmoking controls, using independent component analysis for brain network comparisons as well as a whole brain resting‐state functional connectivity analysis using the anterior cingulate cortex as a seed.ResultsIndependent component analysis demonstrated increased functional connectivity in brain networks such as the default mode network associated with the withdrawal state in multiple brain regions. In seed‐based analysis, smokers in the withdrawal state showed stronger functional connectivity than nonsmoking controls between the anterior cingulate cortex and the precuneus, caudate, putamen, and frontal cortex (P < 0.05). Among smokers, compared to the satiated state, nicotine withdrawal was associated with increased connectivity between the anterior cingulate cortex and the precuneus, insula, orbital frontal gyrus, superior frontal gyrus, posterior cingulate cortex, superior temporal, and inferior temporal lobe (P < 0.02). The intensity of withdrawal‐induced craving correlated with the strength of connectivity between the anterior cingulate cortex and the precuneus, insula, caudate, putamen, middle cingulate gyrus, and precentral gyrus (r = 0.60–0.76; P < 0.05).ConclusionsIn concordance with our previous report that structural neural connectivity between the anterior cingulate area and the precuneus increased in proportion to the progression of physical dependence, resting‐state functional connectivity in this pathway increases during nicotine withdrawal in correlation with the intensity of withdrawal‐induced craving. These findings suggest that smoking triggers structural and functional neural adaptations in the brain that support withdrawal‐induced craving.
Decreased decorin expression in the tumor microenvironment
Authors: Bozoky Benedek , Savchenko Andrii , Guven Hayrettin , Ponten Fredrik , Klein George , Szekely Laszlo 
Published: March 2014

AbstractDecorin is a small leucine‐rich proteoglycan, synthesized and deposited by fibroblasts in the stroma where it binds to collagen I. It sequesters several growth factors and antagonizes numerous members of the receptor tyrosine kinase family. In experimental murine systems, it acted as a potent tumor suppressor. Examining the Human Protein Atlas online database of immunostained tissue samples we have surveyed decorin expression in silico in several different tumor types, comparing them with corresponding normal tissues. We found that decorin is abundantly secreted and deposited in normal connective tissue but its expression is consistently decreased in the tumor microenvironment. We developed a software to quantitate the difference in expression. The presence of two closely related proteoglycans in the newly formed tumor stroma indicated that the decreased decorin expression was not caused by the delay in proteoglycan deposition in the newly formed connective tissue surrounding the tumor.
A rare case report: SCARF syndrome
Authors: Rahimpour Masoume , Sohrabi Mohammad bager , Kalhor Sulmaz , Khosravi Hossein ali , Zolfaghari Poone , Yahyaei Elahe 
Published: March 2014

Key Clinical MessageSCARF syndrome is a very rare syndrome that so far only two cases have been reported in the papers. In this article, a 3‐month‐old female who exhibited SCARF syndrome presented with multiple congenital abnormalities and problems at Imam Hossein hospital of Shahroud.
Treatment and survival in 10,429 patients with localized laryngeal cancer: A population‐based analysis
Authors: Misono Stephanie , Marmor Schelomo , Yueh Bevan , Virnig Beth A. 
Published: March 2014

BACKGROUNDThe objectives of this study were to identify factors associated with treatment differences, characterize changes in treatment patterns over time, and compare survival across treatment types in patients who received treatment for localized laryngeal cancer.METHODSUsing the Surveillance, Epidemiology, and End Results database, we conducted a retrospective cohort analysis of patients who were treated from 1995 to 2009 for localized laryngeal cancer. Four treatment groups were defined: (1) radiation only, (2) local surgery only, (3) local surgery and radiation, and (4) open surgery with or without radiation. Variations in treatment rates between these groups were evaluated according to demographic factors, and differences in treatment rates across time were calculated. Associations between treatment and mortality were assessed using Kaplan‐Meier methods. Cox proportional hazards regression models were used to adjust for potential confounding covariates.RESULTSIn total, 10,429 patients with localized laryngeal cancer were identified. Most patients (57%) were treated with radiation only; 25% with local surgery and radiation, 9% with local surgery only, and 9% with open surgery with or without radiation. Race, age, and registry were associated with differences in treatment. Receipt of single‐modality treatment increased and receipt of combined‐modality treatment decreased over the study period. Better survival was observed with white race, younger age, and treatment with local surgery. Survival differences associated with treatment type were observed within 3 years of diagnosis and persisted beyond 5 years after diagnosis.CONCLUSIONSAlthough treatment patterns became more adherent to treatment guidelines over time, we identified survival differences associated with treatment type that warrant further investigation into treatment decision‐making for patients with localized laryngeal cancer. Cancer 2014;120:1810–1817. © 2014 American Cancer Society.
Standardized flow cytometry assay for identification of human monocytic heterogeneity and LRP1 expression in monocyte subpopulations: Decreased expression of this receptor in nonclassical monocytes
Authors: Ferrer Darío G. , Jaldín‐Fincati Javier R. , Amigone José L. , Capra Raul H. , Collino César J. , Albertini Ricardo A. , Chiabrando Gustavo A. 
Published: March 2014

AbstractIn this article, we present a flow cytometry assay by which human blood monocyte subpopulations—classical (CD14++CD16−), intermediate (CD14++CD16+), and nonclassical (CD14+CD16++) monocytes—can be determined. Monocytic cells were selected from CD45+ leukocyte subsets by differential staining of the low‐density lipoprotein receptor‐related protein 1 (LRP1), which allows reducing the spill‐over of natural killer cells and granulocytes into the CD16+ monocyte gate. Percentages of monocyte subpopulations established by this procedure were significantly comparable with those obtained by a well‐standardized flow cytometry assay based on the HLA‐DR monocyte‐gating strategy. We also demonstrated that LRP1 is differentially expressed at cell surface of monocyte subpopulations, being significantly lower in nonclassical monocytes than in classical and intermediate monocytes. Cell surface expression of LRP1 accounts for only 20% of the total cellular content in each monocyte subpopulation. Finally, we established the within‐individual biological variation (bCV%) of circulating monocyte subpopulations in healthy donors, obtaining values of 21%, 20%, and 17% for nonclassical, intermediate, and classical monocytes, respectively. Similar values of bCV% for LRP1 measured in each monocyte subpopulation were also obtained, suggesting that its variability is mainly influenced by the intrinsic biological variation of circulating monocytes. Thus, we conclude that LRP1 can be used as a third pan‐monocytic marker together with CD14 and CD16 to properly identify monocyte subpopulations. The combined determination of monocyte subpopulations and LRP1 monocytic expression may be relevant for clinical studies of inflammatory processes, with special interest in atherosclerosis and cardiovascular disease. © 2014 International Society for Advancement of Cytometry
Distributed topology management for wireless multimedia sensor networks: exploiting connectivity and cooperation
Authors: Misra Sudip , Mali Goutam , Mondal Ayan 
Published: March 2014

SummaryIn this paper, we propose a distributed topology management algorithm, named T‐Must, which orchestrates coalition formation game between camera and scalar sensor (SS) nodes, for use in wireless multimedia sensor networks. In the proposed solution, connectivity among the peer camera sensor (CS) nodes is maintained, and coverage is ensured between them. Only the scalar data are not sufficient to describe an event in a particular monitored area. In many cases, multimedia data (specifically, video data) are required to provide more precise information about the event. As the CS nodes, which sense and transmit multimedia data, are costlier than the SS nodes, the former are deployed in the monitored area in lesser numbers compared to the latter ones. In case of CS nodes, power consumption due to sensing is also significant, similar to power consumption for the transmission and reception of packets. Therefore, in this work, in order to increase the network lifetime, topology is controlled by forming coalition between the CS and SS nodes. Upon occurrence of an event, the SS nodes send scalar data to their associated CS nodes. If the scalar data received from SS nodes cross a preconfigured threshold, the associated CS node in the coalition starts sensing the event, captures the video data, and forwards the video data toward other coalitions or sink. Copyright © 2014 John Wiley & Sons, Ltd.