bluuebunny/crossref_metadata_2025_split huggingface dataset:
Development of a novel imidazolium‐based aromatic quaternary ammonium tag: Synthesis and application to the efficient analysis of cysteinyl‐peptides by mass spectrometry
Authors: Qiao Xiaoqiang , Wang Rui , Yan Hongyuan , Wang Tao , Zhao Qun , Zhang Lihua , Zhang Yukui 
Published: December 2013

RATIONALEChemical derivatization is a very promising technique for improving analysis of peptides by mass spectrometry (MS). In this study, a novel kind of imidazolium‐based aromatic quaternary ammonium tag, 1‐[3‐[(2‐iodo‐1‐oxoethyl)amino]propyl]‐3‐butylimidazolium bromide (IPBI), designed with strong gas‐phase basicity and a permanent positive charge, was firstly synthesized and further used for derivatization of cysteinyl‐peptides with improved ionization efficiency and higher charge states.METHODSBoth the model peptides and tryptic digests of proteins were used to evaluate the effect of IPBI derivatization on the MS performance of the derivatized peptides, and the results were further compared with the commonly used iodoacetamide (IAA) tag. Matrix‐assisted laser desorption/ionization time‐of‐flight (MALDI‐TOF)‐MS and electrospray ionization (ESI)‐MS were used to evaluate the ionization efficiency and charge states of the derivatized peptides.RESULTSWith model peptides as samples, a nearly 100% derivatization efficiency and superior stability were achieved via IPBI derivatization. By further analysis of both standard peptides and tryptic protein digests, the ionization efficiency and charge states of IPBI‐derivatized peptides could be remarkably improved. For example, for protein bovine serum albumin, compared with the commercial available IAA tag, the identification efficiency of cysteinyl‐peptides was increased about 67% by combining with IPBI derivatization.CONCLUSIONSThe results indicated that the novel tag is an effective derivatization reagent for cysteinyl‐peptide identification. We hope it could be further used for high‐efficiency cysteinyl‐peptide identification in proteome research, especially those with low abundance and poor ionization efficiency. Copyright © 2013 John Wiley & Sons, Ltd.
Validation of post‐tensioning anchorage zones by laboratory testing and numerical simulation
Authors: Cervenka Vladimir , Ganz Hans Rudolf 
Published: December 2013

AbstractAnchorage zones in post‐tensioned concrete structures offered by the construction industry are subject to a certification process, which checks compliance with codes of practice and safety requirements. This certification is based on load transfer tests on specimens, which represent the real structural solutions. Such tests can be supplemented by numerical simulations based on computational mechanics. Those simulations represent a powerful tool for interpreting test results and contribute to a better understanding of the structural behaviour of anchorage zones.
Review of possible mineral materials and production techniques for a building material on the moon
Authors: Wilhelm Sebastian , Curbach Manfred 
Published: December 2013

AbstractThis article provides an overview of the findings and production processes for the mineral materials that have been developed and tested worldwide in the past with regard to the establishment of a lunar base. Firstly, the aim of and procedure for constructing a lunar base are briefly outlined. Following that, the lunar environment factors and their influence on a possible structure are described. The paper then presents the advantages and disadvantages of the materials examined, such as sulphur concrete, cast basalt, lunar concrete or polymer concrete, on the one hand, as well as production processes investigated previously, such as sintering, geothermite reaction and 3D printing, on the other. One promising method is the dry‐mix/steam‐injection (DMSI) method for producing a lunar concrete as a possible material which was developed by T. D. Lin and is based on cement made from lunar resources.
Results of Intraoperative Neuromonitoring in Thyroid Surgery and Preoperative Vocal Cord Paralysis
Authors: Lorenz Kerstin , Abuazab Mohammed , Sekulla Carsten , Schneider Rick , Nguyen Thanh Phuong , Dralle Henning 
Published: December 2013

AbstractBackgroundSystematic studies of intermittent intraoperative neuromonitoring (IONM) have shown that IONM enhances recurrent laryngeal nerve (RLN) identification via functional assessment, but does not significantly reduce rates of vocal cord (VC) paralysis (VCP). The reliability of functional nerve assessment depends on the preoperative integrity of VC mobility. The present study was therefore performed to analyze the validity of IONM in patients with pre‐existing VC paralysis.MethodsOf 8,128 patients, 285 (3.5 %) with preoperative VCP underwent thyroid surgery using standardized IONM of the RLN and vagus nerves (VNs). VC function was assessed by pre‐ and postoperative direct videolaryngoscopy. Quantitative parameters of IONM in patients with VCP were compared with IONM in patients with intact VC function. Clinical symptoms and surgical outcomes of patients with pre‐existing VCP were analyzed.ResultsA total of 244 patients revealed negative, and 41 revealed positive IONM on the side of the VCP. VCP with positive IONM revealed significantly lower amplitudes of VN and RLN than intact VN (p = 0.010) and RLN (p = 0.011). Symptoms of patients with VCP included hoarseness (25 %), dyspnea (29 %), stridor (13 %), and dysphagia (13 %); 13 % were asymptomatic. New VCP occurred in five patients, ten needed tracheostomy for various reasons, and one patient died.ConclusionsPatients with pre‐existing VCP revealed significantly reduced amplitude of ipsilateral VN and RLN, indicating retained nerve conductivity despite VC immobility. Preoperative laryngoscopy is therefore indispensable for reliable IONM and risk assessment, even in patients without voice abnormalities.
Treatment effect of coenzyme Q10 and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease
Authors: Matalonga Leslie , Arias Angela , Coll María Josep , Garcia‐Villoria Judit , Gort Laura , Ribes Antonia 
Published: December 2013

AbstractCoenzyme Q10 (CoQ10) plays a key role in the exchange of electrons in lysosomal membrane, which contributes to protons’ translocation into the lumen and to the acidification of intra‐lysosomal medium, which is essential for the proteolytic function of hydrolases responsible ‐when deficient‐ of a wide range of inherited lysosomal diseases such as Sanfilippo syndromes. Our aim was to evaluate whether treatment with CoQ10 or with an antioxidant cocktail (α‐tocopherol, N‐acetylcysteine and α‐lipoic acid) were able to ameliorate the biochemical phenotype in cultured fibroblasts of Sanfilippo patients. Basal CoQ10 was analyzed in fibroblasts and Sanfilippo A patients showed decreased basal levels. However, no dysfunction in the CoQ10 biosynthesis pathways was found, revealing for the first time a secondary CoQ10 deficiency in Sanfilippo A fibroblasts. Cultured fibroblasts from five patients affected by Sanfilippo A and B diseases were treated with CoQ10 and an antioxidant cocktail. Upon CoQ10 treatment, none of the Sanfilippo A fibroblasts increased their residual enzymatic activity, but the two Sanfilippo B cell lines showed a statistically significant increase of their residual activity. The antioxidant treatment had no effect on the residual activity in all tested cell lines. Moreover, one Sanfilippo A and two Sanfilippo B fibroblasts showed a statistically significant reduction of glycosaminoglycans accumulation both, after 50 μmol/L CoQ10 and antioxidant treatment. Fibroblasts responsive to treatment enhanced their exocytosis levels. Our results are encouraging as some cellular alterations observed in Sanfilippo syndrome can be partially restored by CoQ10 or other antioxidant treatment in some patients.
Monogene Ionenkanalerkrankungen des Knochens
Authors: Stauber T. , Horn D. , Kornak U. 
Published: December 2013

Zusammenfassung
Obwohl Ionenkanäle eher mit der Generierung von Aktionspotenzialen in Verbindung gebracht werden, können sie auch in unterschiedlichster Weise die Entwicklung und Funktion von Knochenzellen und -gewebe beeinflussen, was durch die hier vorgestellten Skeletterkrankungen verdeutlicht werden soll. Jeder der grundlegenden Zelltypen, Chondrozyten, Osteoblasten, Osteozyten, Osteoklasten, kann in die Pathogenese involviert sein und in vielen Fällen ist das Zusammenspiel der verschiedenen zellulären Defekte nicht verstanden. Connexin 43 und TRPV4, 2 der genannten Membranproteine, transportieren v. a. Kalzium und stehen jeweils mit einem Spektrum an Skelettphänotypen in Verbindung. Hierbei scheint Connexin 43 v. a. als Regulator in Osteoblasten und Osteozyten zu fungieren, während TRPV4 eine wichtige Rolle in Chondrozyten spielt. Die anderen beiden Beispiele sind die chloridtransportierenden Proteine ANO5 und ClC-7, deren Defekt die gnathodiaphysäre Dysplasie bzw. die Osteopetrose nach sich zieht. Während die Funktion von ANO5 noch unklar ist, konnte die Funktion von ClC-7 in Osteoklasten detailliert beschrieben werden.
Erbliche Ionenkanalerkrankungen der Netzhaut
Authors: Reuter P. , Kohl S. , Bernd A. , Wissinger B. 
Published: December 2013

Zusammenfassung
Retinale Ionenkanalerkrankungen sind klinisch und genetisch sehr heterogen. Die bisher identifizierten krankheitsassoziierten Ionenkanäle umfassen zyklisch nukleotidgesteuerte (CNG-)Kanäle, spannungsgesteuerte Kalium- und Kalziumkanäle, einen einwärtsrektifizierenden Kaliumkanal, einen kalziumaktivierten Chloridkanal und den transienten Rezeptorpotenzialionenkanal TRPM1. Dieses breite Spektrum spiegelt sich auch in der resultierenden Pathophysiologie wieder. Mutationen in retinalen Ionenkanälen können die Detektion von Lichtreizen bzw. deren Umwandlung in ein elektrisches Signal oder die Weiterleitung des Signals von den Fotorezeptoren zu nachgeschalteten Neuronen beeinträchtigen. Einige Erkrankungen werden auch durch Mutationen in Ionenkanälen, die im retinalen Pigmentepithel lokalisiert sind, hervorgerufen. Dieses ist mit seinen unterstützenden Aufgaben für eine normale Netzhautfunktion essenziell.
The SSQ model of schizophrenic prodromal unfolding revised: An analysis of its causal chains based on the language of directed graphs
Authors: van Kampen D. 
Published: December 2013

AbstractObjectiveExcept in broad outline, little is known about the most likely symptomatic trajectories in prodromal schizophrenia. The aim of this study is to delineate these pathways.MethodsTaking into account existing clinical knowledge, the causal relationships between the 12 prodrome scales of the Schizotypic Syndrome Questionnaire (SSQ) were examined in a general-population sample by applying the mathematical theory of directed graphs. Use was made of two discovery algorithms implemented in the Tetrad-4 program, as well as of the graphical DAGitty program to test whether a particular model holds.ResultsA promising model was selected that may describe the causal pathways in schizophrenic prodromal unfolding. Testing this model by means of DAGitty, it was shown that the minimal testable implications, listed as conditional independences, and the direct and total effects in the model, identified after correction for bias, were as hypothesized. For practical reasons, a simpler version of the resulting SSQ model, containing only its principal pathways, was provided.ConclusionsAlthough resembling an earlier model that was based on a series of LISREL analyses, the present model was believed to provide a more dependable description of schizophrenic prodromal unfolding, as it relies on methods that are less subject to the limitations involved in SEM.
Oral lichen planus: Malignant potential and diagnosis
Authors: Shirasuna Kanemitsu 
Published: December 2013

AbstractOral lichen planus (OLP) is one of the most common diseases of the oral mucosa. Clinically, it has specific and clearly identifiable features; bilateral symmetric presentation showing a lace‐like network of fine white lines (known as Wickham’s striae) is an essential element of OLP even if the lesion exhibits a mainly atrophic and erosive pattern. There are various lesions that resemble OLP clinically and histologically. These lesions are widely referred to as lichenoid reactions or lichenoid lesions (OLLs). OLLs include contact hypersensitivity to dental materials, drug‐induced lichenoid lesions, lichenoid reactions in chronic graft‐versus‐host disease, and other lesions that resemble OLP. The risk of malignant transformation of OLP is the subject of ongoing debate in the literature. Some authors have suggested that only OLLs, but not OLP, are of a premalignant nature and thus, should be categorized as “other dysplastic conditions.” Contrary to this suggestion, many cases of oral squamous cell carcinoma (OSCC) developing in patients with OLP presenting with no epithelial dysplasia have been reported. In addition, it has been reported that multiple events including multifocal dysplasia and/or OSCC subsequently occurred in some patients with OLP, suggesting possible field cancerization in OLP. In this paper, differential diagnosis between OLP and OLLs and their malignant potential are reviewed.
3-Fold Extremal Contractions of Types (IC) and (IIB)
Authors: Mori Shigefumi , Prokhorov Yuri 
Published: December 2013

AbstractLet (X, C) be a germ of a 3-foldXwith terminal singularities along an irreducible reduced complete curveCwith a contractionf:(X, C) → (Z, o) such thatC=f−1(o)redand −KXis ample. Assume that (X, C) contains a point of type (IC) or (IIB). We complete the classification of such germs in terms of a general membercontainingC.
Prey switching by killer whales in the north-east Atlantic: observational evidence and experimental insights
Authors: Vongraven Dag , Bisther Anna 
Published: December 2013

Studies in the Pacific have identified distinct killer whale ecotypes that are either specialized mammal- or fish-eaters. The different types have developed hunting strategies that would suggest specialization could be more advantageous than generalism. However, it has been suggested, based on long-term dietary markers of tooth wear and stable isotope values, that lineages in the North Atlantic are generalist, but with individual variation in the proportion of prey types consumed. Here, we present the results of ten years of observational and photo-identification data of a population of killer whales that follows the Norwegian spring-spawning stock of Atlantic herring. Although the whales were predominantly observed while feeding upon herring, one pod of herring-eating whales was also observed interacting with seals. This supports the hypothesis based on the long-term markers, of a degree of specialization, with a small number of groups persistently feeding upon mammals, but switching between herring and seals. We further investigated this prey switching by conducting playbacks of herring-eating killer whale sounds to harbour seals at haul-out sites on the herring spawning grounds. We recorded changes in behaviour consistent with an anti-predator response, suggesting the seals perceived the herring-eating killer whales as a potential predatory threat and had not habituated to their calls. This could be due to the risk of herring-eating killer whales switching to mammalian prey, or the difficulty of discriminating between killer whale pods due to the large population size and number of killer whale call dialects in this population, or a combination of both.
S-opsin knockout mice with the endogenous M-opsin gene replaced by an L-opsin variant
Authors: GREENWALD SCOTT H. , KUCHENBECKER JAMES A. , ROBERSON DANIEL K. , NEITZ MAUREEN , NEITZ JAY 
Published: December 2013

AbstractSpecific variants of human long-wavelength (L) and middle-wavelength (M) cone opsin genes have recently been associated with a variety of vision disorders caused by cone malfunction, including red-green color vision deficiency, blue cone monochromacy, myopia, and cone dystrophy. Strikingly, unlike disease-causing mutations in rhodopsin, most of the cone opsin alleles that are associated with vision disorders do not have deleterious point mutations. Instead, specific combinations of normal polymorphisms that arose by genetic recombination between the genes encoding L and M opsins appear to cause disease. Knockout/knock-in mice promise to make it possible to study how these deleterious cone opsin variants affect the structure, function, and viability of the cone photoreceptors. Ideally, we would like to evaluate different variants that cause vision disorders in humans against a control pigment that is not associated with vision disorders, and each variant should be expressed as the sole photopigment in each mouse cone, as is the case in humans. To evaluate the feasibility of this approach, we created a line of mice to serve as the control in the analysis of disease-causing mutations by replacing exon 2 through 6 of the mouse M-opsin gene with the corresponding cDNA for a human L-opsin variant that is associated with normal vision. Experiments reported here establish that the resulting pigment, which differs from the endogenous mouse M opsin at 35 amino acid positions, functions normally in mouse cones. This pigment was evaluated in mice with and without coexpression of the mouse short wavelength (S) opsin. Here, the creation and validation of two lines of genetically engineered mice that can be used to study disease-causing variants of human L/M-opsins, in vivo, are described.
The future of genomics for developmentalists
Authors: Plomin Robert , Simpson Michael A. 
Published: December 2013

AbstractThe momentum of genomic science will carry it far into the future and into the heart of research on typical and atypical behavioral development. The purpose of this paper is to focus on a few implications and applications of these advances for understanding behavioral development. Quantitative genetics is genomic and will chart the course for molecular genomic research now that these two worlds of genetics are merging in the search for many genes of small effect. Although current attempts to identify specific genes have had limited success, known as the missing heritability problem, whole-genome sequencing will improve this situation by identifying all DNA sequence variations, including rare variants. Because the heritability of complex traits is caused by many DNA variants of small effect in the population, polygenic scores that are composites of hundreds or thousands of DNA variants will be used by developmentalists to predict children's genetic risk and resilience. The most far-reaching advance will be the widespread availability of whole-genome sequence for children, which means that developmentalists would no longer need to obtain DNA or to genotype children in order to use genomic information in research or in the clinic.
A translational neuroscience framework for the development of socioemotional functioning in health and psychopathology
Authors: Wiggins Jillian Lee , Monk Christopher S. 
Published: December 2013

AbstractThe development of socioemotional functioning is a complex process that occurs over a protracted time period and requires coordinating affective, cognitive, and social faculties. At many points in development, the trajectory of socioemotional development can be deleteriously altered due to a combination of environmental insults and individual vulnerabilities. The result can be psychopathology. However, researchers are just beginning to understand the neural and genetic mechanisms involved in the development of healthy and disordered socioemotional functioning. We propose a translational developmental neuroscience framework to understand the transactional process that results in socioemotional functioning in both healthy and disordered populations. We then apply this framework to healthy socioemotional development, pediatric anxiety, pediatric depression, and autism spectrum disorder, selectively reviewing current literature in light of the framework. Finally, we examine ways that the framework can help to frame future directions of research on socioemotional development and translational implications for intervention.
Adolescent brain development in normality and psychopathology
Authors: Luciana Monica 
Published: December 2013

AbstractSince this journal's inception, the field of adolescent brain development has flourished, as researchers have investigated the underpinnings of adolescent risk-taking behaviors. Explanations based on translational models initially attributed such behaviors to executive control deficiencies and poor frontal lobe function. This conclusion was bolstered by evidence that the prefrontal cortex and its interconnections are among the last brain regions to structurally and functionally mature. As substantial heterogeneity of prefrontal function was revealed, applications of neuroeconomic theory to adolescent development led to dual systems models of behavior. Current epidemiological trends, behavioral observations, and functional magnetic resonance imaging based brain activity patterns suggest a quadratic increase in limbically mediated incentive motivation from childhood to adolescence and a decline thereafter. This elevation occurs in the context of immature prefrontal function, so motivational strivings may be difficult to regulate. Theoretical models explain this patterning through brain-based accounts of subcortical–cortical integration, puberty-based models of adolescent sensation seeking, and neurochemical dynamics. Empirically sound tests of these mechanisms, as well as investigations of biology–context interactions, represent the field's most challenging future goals, so that applications to psychopathology can be refined and so that developmental cascades that incorporate neurobiological variables can be modeled.
A quarter century of progress on the early detection and treatment of autism spectrum disorder
Authors: Dawson Geraldine , Bernier Raphael 
Published: December 2013

AbstractThe last 25 years have witnessed tremendous changes in our ability to detect autism very early in life and provide interventions that can significantly influence children's outcomes. It was once questioned whether autism could be recognized before children had developed language and symbolic play skills; now changes in early behaviors, as well as structural brain changes, have been documented in infants 6–12 months of age who later develop autism. Advances in brain imaging and genetics offer the possibility of detecting autism before the syndrome is fully manifest, thereby reducing or preventing symptoms from developing. Whereas the primary mode of behavioral intervention a few decades ago relied on operant conditioning, recent approaches integrate the methods of applied behavioral analysis within a developmental, relationship-focused intervention model that are implemented by both parents and clinicians. These interventions have been found to have positive effects on children's developmental trajectory, as measured by both behavioral and neurophysiological assessments. Future approaches will likely combine both behavioral and pharmacological treatments for children who have less robust responses to behavioral interventions. There has been a paradigm shift in the way that autism is viewed, evolving from a lifelong condition with a very poor prognosis to one in which significant gains and neuroplasticity is expected, especially when the condition is detected early and appropriate interventions are provided. The grand challenge for the future is to bridge the tremendous gap between research and the implementation of evidence-based practices in the broader community, both in the United States and worldwide. Significant disparities in access to appropriate health care for children with autism exist that urgently require advocacy and more resources.