bluuebunny/crossref_metadata_2025_split huggingface dataset:
Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma
Authors: Kuchtey John , Chang Ta Chen , Panagis Lampros , Kuchtey Rachel W. 
Published: February 2013

AbstractMutations in fibrillin‐1 (FBN1) cause a wide spectrum of disorders, including Marfan syndrome, which have in common defects in fibrillin‐1 microfibrils. Ectopia lentis and myopia are frequently observed ocular manifestations of Marfan syndrome. Glaucoma is also associated with Marfan syndrome, though the form of glaucoma has not been well‐characterized. In this report, ocular examination of a patient diagnosed with Marfan syndrome based on family history and aortic dilatation was performed, including measurement of facility of aqueous humor outflow by tonography. The patient did not have ectopia lentis at the age of 42 years. Based on optic nerve appearance, reduced outflow facility, elevated IOP with open angles and clear signs of pigment dispersion, the patient was diagnosed with pigmentary glaucoma. The patient was heterozygous for a novel truncating mutation in FBN1, p.Leu72Ter. Histology of normal human eyes revealed abundant expression of elastic fibers and fibrillin‐1 in aqueous humor outflow structures. This is the first report of a patient with Marfan syndrome that is caused by a confirmed FBN1 mutation with associated pigmentary glaucoma. In addition to identifying a novel mutation of FBN1 and broadening the spectrum of associated ocular phenotypes in Marfan syndrome, our findings suggest that pigmentary glaucoma may involve defects in fibrillin‐1 microfibrils. © 2013 Wiley Periodicals, Inc.
Diet, Activity, Habitat Use, and Ranging of Two Neighboring Groups of Food‐Enhanced Long‐Tailed Macaques (Macaca fascicularis)
Authors: SHA JOHN CHIH MUN , HANYA GORO 
Published: February 2013

AbstractWe conducted observations of two neighboring groups of food‐enhanced long‐tailed macaques (Macaca fascicularis) over a period of one year. We examined their diet, behavior, habitat use, and ranging and how within‐population variability reflected differential utilization of anthropogenic food resources. The group that consumed more anthropogenic food spent less time feeding on wild fruits and flowers, less time resting, and more time locomoting. They used forest habitats less often, and had a larger total home range and mean monthly home range. Some of these results contrasted with previous studies of food‐enhanced primates which reported that food‐enhancement resulted in smaller home ranges, shorter daily ranges, less time traveling and feeding, and more time resting. These contrasting patterns may relate to the nature of anthropogenic foods. In most studies of food‐enhanced primates, anthropogenic food resources were abundant and concentrated but the macaques in this study used anthropogenic foods mainly from a few refuse sites where they had limited access, and from dispersed and irregular human provisioning. The group consuming more anthropogenic food therefore showed more spatially dispersed feeding activity and home range use, an effect that was likely further enhanced by lower natural food resource availability within their home range. The Singapore macaque population shows small‐scale variability in feeding and ranging behavior, contributing to the complexity of their adaptive variability in a human‐altered habitat. Our findings could have important implications for mitigating human–macaque conflict as measures applied at a higher spatial or population level may achieve highly inconsistent results, intensifying the challenges for wildlife managers. Am. J. Primatol. 75:581‐592, 2013. © 2013 Wiley Periodicals, Inc.
Plasma apolipoprotein A1 as a biomarker for Parkinson disease
Authors: Qiang Judy K. , Wong Yvette C. , Siderowf Andrew , Hurtig Howard I. , Xie Sharon X. , Lee Virginia M.‐Y. , Trojanowski John Q. , Yearout Dora , B. Leverenz James , Montine Thomas J. , Stern Matt , Mendick Susan , Jennings Danna , Zabetian Cyrus , Marek Ken , Chen‐Plotkin Alice S. 
Published: February 2013

ObjectiveTo identify plasma‐based biomarkers for Parkinson disease (PD) risk.MethodsIn a discovery cohort of 152 PD patients, plasma levels of 96 proteins were measured by multiplex immunoassay; proteins associated with age at PD onset were identified by linear regression. Findings from discovery screening were then assessed in a second cohort of 187 PD patients, using a different technique. Finally, in a third cohort of at‐risk, asymptomatic individuals enrolled in the Parkinson's Associated Risk Study (PARS, n = 134), plasma levels of the top candidate biomarker were measured, and dopamine transporter (DAT) imaging was performed, to evaluate the association of plasma protein levels with dopaminergic system integrity.ResultsOne of the best candidate protein biomarkers to emerge from discovery screening was apolipoprotein A1 (ApoA1; p = 0.001). Low levels of ApoA1 correlated with earlier PD onset, with a 26% decrease in risk of developing PD associated with each tertile increase in ApoA1 (Cox proportional hazards, p < 0.001, hazard ratio = 0.742). The association between plasma ApoA1 levels and age at PD onset was replicated in an independent cohort of PD patients (p < 0.001). Finally, in the PARS cohort of high‐risk, asymptomatic subjects, lower plasma levels of ApoA1 were associated with greater putaminal DAT deficit (p = 0.037).InterpretationLower ApoA1 levels correlate with dopaminergic system vulnerability in symptomatic PD patients and in asymptomatic individuals with physiological reductions in dopamine transporter density consistent with prodromal PD. Plasma ApoA1 may be a new biomarker for PD risk. ANN NEUROL 2013;74:119–127
Vascular extracellular signal‐regulated kinase mediates migraine‐related sensitization of meningeal nociceptors
Authors: Zhang XiChun , Kainz Vanessa , Zhao Jun , Strassman Andrew M. , Levy Dan 
Published: February 2013

ObjectiveTo examine changes in the response properties of meningeal nociceptors that might lead to migraine pain and examine endogenous processes that could play a role in mediating them using a clinically relevant model of migraine triggering, namely infusion of the nitric oxide (NO) donor nitroglycerin (NTG).MethodsSingle‐unit recordings made in the trigeminal ganglion of rats were used to test changes in the activity and mechanosensitivity of meningeal nociceptors in response to administration of the migraine trigger NTG or another NO donor S‐nitroso‐N‐acetyl‐DL‐penicillamine (SNAP) at doses relevant to the human model of migraine headache. Immunohistochemistry and pharmacological manipulations were used to investigate the possible role of meningeal vascular signaling in mediating the responses of meningeal nociceptors to NO.ResultsInfusion of NTG promoted a delayed and robust increase in the mechanosensitivity of meningeal nociceptors, with a time course resembling the development of the delayed migraine headache. A similar sensitization was elicited by dural application of NTG and SNAP. NTG‐evoked delayed meningeal nociceptor sensitization was associated with a robust extracellular signal‐regulated kinase (ERK) phosphorylation in meningeal arteries. Pharmacological blockade of meningeal ERK phosphorylation inhibited the development of NTG‐evoked delayed meningeal nociceptor sensitization.InterpretationThe development of delayed mechanical sensitization evoked by the migraine trigger NTG is potentially of great importance as the first finding of a neurophysiological correlate of migraine headache in meningeal nociceptors. The arterial ERK phosphorylation and its involvement in mediating the NTG‐evoked delayed sensitization points to an important, yet unappreciated, role of the meningeal vasculature in the genesis of migraine pain. ANN NEUROL 2013;73:741–750
Cholinergic enhancement of functional networks in older adults with mild cognitive impairment
Authors: Pa Judy , Berry Anne S. , Compagnone Mariana , Boccanfuso Jacqueline , Greenhouse Ian , Rubens Michael T. , Johnson Julene K. , Gazzaley Adam 
Published: February 2013

ObjectiveThe importance of the cholinergic system for cognitive function has been well documented in animal and human studies. The objective of this study was to elucidate the cognitive and functional connectivity changes associated with enhanced acetylcholine levels. We hypothesized that older adults with mild memory deficits would show behavioral and functional network enhancements with an acetylcholinesterase inhibitor treatment (donepezil) when compared to a placebo control group.MethodsWe conducted a 3‐month, double‐blind, placebo‐controlled study on the effects of donepezil in 27 older adults with mild memory deficits. Participants completed a delayed recognition memory task. Functional magnetic resonance imaging (fMRI) scans were collected at baseline prior to treatment and at 3‐month follow‐up while subjects were on a 10mg daily dose of donepezil or placebo.ResultsDonepezil treatment significantly enhanced the response time for face and scene memory probes when compared to the placebo group. A group‐by‐visit interaction was identified for the functional network connectivity of the left fusiform face area (FFA) with the hippocampus and inferior frontal junction, such that the treatment group showed increased connectivity over time when compared to the placebo group. Additionally, the enhanced functional network connectivity of the FFA and hippocampus significantly predicted memory response time at 3‐month follow‐up in the treatment group.InterpretationThese findings suggest that increased cholinergic transmission improves goal‐directed neural processing and cognitive ability and may serve to facilitate communication across functionally‐connected attention and memory networks. Longitudinal fMRI is a useful method for elucidating the neural changes associated with pharmacological modulation and is a potential tool for monitoring intervention efficacy in clinical trials. ANN NEUROL 2013;73:762–773
Distinct modulation of human myeloid and plasmacytoid dendritic cells by anandamide in multiple sclerosis
Authors: Chiurchiù Valerio , Cencioni Maria Teresa , Bisicchia Elisa , De Bardi Marco , Gasperini Claudio , Borsellino Giovanna , Centonze Diego , Battistini Luca , Maccarrone Mauro 
Published: February 2013

ObjectiveThe immunopathogenesis of multiple sclerosis (MS) has always been thought to be driven by chronically activated and autoreactive Th‐1 and Th‐17 cells. Recently, dendritic cells (DCs) have also been thought to significantly contribute to antigenic spread and to maturation of adaptive immunity, and have been linked with disease progression and exacerbation. However, the role of DCs in MS pathogenesis remains poorly understood.MethodsWe compared the level of cytokine production by myeloid DCs (mDCs) and plasmacytoid DCs (pDCs) in healthy subjects and MS patients, following in vitro stimulation of Toll‐like receptors 7/8. We also evaluated the effect of the main endocannabinoid, anandamide (AEA), in these DC subsets and correlated cytokine levels with defects in the endocannabinoid system.ResultsmDCs obtained from MS patients produce higher levels of interleukin‐12 and interleukin‐6, whereas pDCs account for lower levels of interferon‐α compared to healthy subjects. AEA significantly inhibited cytokine production from healthy mDCs and pDCs, as well as their ability to induce Th‐1 and Th‐17 lineages. Moreover, we found that in MS only pDCs lack responsiveness to cytokine inhibition induced by AEA. Consistently, this specific cell subset expresses higher levels of the anandamide hydrolase fatty acid amide hydrolase (FAAH).InterpretationOur data disclose a distinct immunomodulatory effect of AEA in mDCs and pDCs from MS patients, which may reflect an alteration of the expression of FAAH, thus forming the basis for the rational design of new endocannabinoid‐based immunotherapeutic agents targeting a specific cell subset. Ann Neurol 2013;73:626–636
Industrial Applications of the Diels–Alder Reaction
Authors: Funel Jacques‐Alexis , Abele Stefan 
Published: February 2013

AbstractThe Diels–Alder reaction is one of the most popular transformations for organic chemists to generate molecular complexity efficiently. Surprisingly, little is known about its industrial application for the synthesis of pharmacologically active ingredients, agrochemicals, and flavors and fragrances. This Review highlights selected examples, with a focus on large‐scale applications (>1 kg) from a process research and development perspective.
Implications of a ‘carbon debt' on bioenergy's potential to mitigate climate change
Authors: Dehue Bart 
Published: February 2013

AbstractBurning biomass for energy emits CO2 that was earlier sequestered from the atmosphere and will be sequestered again if the bioenergy system is managed sustainably. There may be a significant temporal imbalance, however, between the carbon emissions and carbon sequestration of such bioenergy systems: also referred to as the ‘carbon debt’. The carbon debt issue has resulted in a debate on the role of bioenergy in preventing unwanted climate change. This paper will argue that, while it is important to consider the temporal imbalances in carbon flows from bioenergy systems, at least three additional aspects will need to be considered in determining whether bioenergy has a useful role to play in mitigating climate change: (i) the relevance of a delay in greenhouse gas (GHG) emission savings for bioenergy's potential to mitigate climate change; (ii) whether climate change mitigation is actually likely to be possible without large‐scale bioenergy; and (iii) what the (asymmetrical) risks are associated with including or excluding bioenergy in society's portfolio to mitigate climate change. The answers to these questions suggest that bioenergy has an important role to play in mitigating climate change provided that the biomass is produced and harvested in a sustainable manner and significant GHG‐emission savings are achieved by 2100. In contrast, the use of bioenergy systems with longer delays in achieving their GHG‐emission savings could negatively affect society's ambitions to mitigate climate change. © 2013 Society of Chemical Industry and John Wiley & Sons, Ltd
A review of cellulosic biofuel commercial‐scale projects in the United States
Authors: Brown Tristan R. , Brown Robert C. 
Published: February 2013

AbstractIn contrast to a few years ago, when cellulosic ethanol via enzymatic hydrolysis was the only widely recognized technology for commercially producing cellulosic biofuels, a diversity of approaches are currently under commercial development. While no commercial‐scale (≥20 million gallons per year) cellulosic biofuel facilities are operating at present, at least ten biorefinery projects employing six different pathways are expected to begin operations by 2014. These biorefineries will employ the following pathways: (i) catalytic pyrolysis and hydrotreating to hydrocarbons; (ii) gasification and Fischer‐Tropsch synthesis to hydrocarbons; (iii) gasification and methanol‐to‐gasoline synthesis; (iv) dilute acid hydrolysis, fermentation to acetic acid, and chemical synthesis to ethanol; (v) enzymatic hydrolysis to ethanol; and (vi) consolidated bioprocessing (single‐step enzyme production, hydrolysis, and fermentation) to ethanol. This review provides an overview of the six pathway technologies, comprehensive descriptions of each of the ten biorefinery projects, and a discussion of the current direction of cellulosic biofuel commercialization efforts and its implications for the revised Renewable Fuel Standard. © 2013 Society of Chemical Industry and John Wiley & Sons Ltd
James cretsos leadership award: What ASIS&T means to me
Authors: Agarwal Naresh 
Published: February 2013

AbstractEditor's SummaryA professor's advice to “find your community” started Naresh Agarwal as a doctoral student on a path to discovering and connecting to others with similar interests and goals. After visiting other conferences, Agarwal felt welcome at ASIS&T's Annual Meeting in 2008 and made the most of the connections he made. He got involved in several SIGs and with other roles and increased his level of participation over the years. His advice to new members includes continually expanding your circle of connections, finding ways to contribute, focusing on one thing at a time and even trying frugal strategies to attend ASIS&T events. Regular communications help reinforce contacts and are essential for SIG and chapter sharing and continuity. Communications and collaboration are key criteria for the SIG/Chapter‐of‐the‐Year Award, which Agarwal helped SIG/ED to win in 2012. Agarwal hopes to see ASIS&T become more open, agile and responsive to members, supporting collaboration and interaction through social media on the association's website.
ASIS&T annual meeting pre‐conference activities: SIG/SI 8th annual research symposium a success!
Authors: Fichman Pnina , Rosenbaum Howard ,   SIG/SI co‐chairs
Published: February 2013

AbstractEditor's SummarySocial informatics' past, present and future were the focus of the 8th annual SIG/SI Research Symposium at the 2012 ASIS&T Annual Meeting, with presenters from Europe, Canada and the United States. Papers on the past of social informatics explored its roots in the early 1980s and its domain organization reflected through bibliometric analysis. Current research topics described the influence of information and communication technologies as a contextual element that shapes experience and social interaction, knowledge sharing across boundaries in online communities and studying subjectivity in Web 2.0 research collaborations through Q methodology. Presenters considered the future of social informatics in terms of the influence of information and communication technologies on the economic order, aspects of information practice that demand attention and topics and frameworks for further research. Best paper awards were given for studies on evolving digital rights and urban immigrants' information tactics. Through the symposium and interaction with other SIGs, researchers were encouraged to take a broad view of social informatics to better understand its lessons, influences and future directions.
ASIS&T annual meeting pre‐conference activities: The 23rd annual SIG/CR classification research workshop: A report
Authors: Furner Jonathan 
Published: February 2013

AbstractEditor's SummaryThe 23rd SIG/CR workshop on classification research featured papers, lightning talks, brief presentations of doctoral projects and two keynote talks, all exploring what's new in the field. Under the theme of new approaches with a historical focus, presenters explored novel theories, models and applications, approaches to building classificatory structures, methods and criteria for evaluation and much more. Classification theory, concepts and terminology were considered from a historical perspective, and new theories and changes in conceptualization and classification structures were raised. Modern perspectives on classification include folksonomies, personal classification practices, power structures captured through classification and the limitations of standardization. Researchers discussed cognitive processes involved in classifying, the evolution of concepts associated with terms and sources for new terms in a domain. Through the variety of presentations, it was clear that classification encompasses a broad array of topics, ultimately serving information retrieval and access.
ASIS&T annual meeting plenary speaker: Edward chang: Mobile opportunities
Authors: Hardin Steve 
Published: February 2013

AbstractEditor's SummaryAt a plenary session of the 2012 ASIS&T Annual Meeting, Edward Chang touched on recent information technology developments and explored emerging innovations. Vice president of research at hTC Corporation and past research director at Google in China, Chang recalled Google's page ranking for Web 1.0 and subsequent efforts to support mobile access, user‐generated content and pushing information for Web 2.0. Advances in human computer interaction, especially sensors in cellphones, enable a higher level of location‐based computation. Natural language processing backed by massive data and computation power supports interpretation and even translation of spoken queries to yield semantically and situationally relevant returns. Advances in location‐based services permit highly precise data delivery. Cellphone sensors can even monitor stress, detect health changes and provide security alerts. Though privacy is a critical outstanding issue, the combined capabilities of cloud computing, infrastructure, big data, social networks and cellphone sensors are leading to evolutionary and revolutionary changes.
ASIS&T annual meeting award winners: Award of merit acceptance speech
Authors: Buckland Michael K. 
Published: February 2013

AbstractEditor's SummaryAccepting the 2012 ASIS&T Award of Merit, Michael K. Buckland mused on the inherent interest and social benefits of library and information science. As a child, Buckland saw being a librarian as a worthwhile endeavor, transitioning from child stage star until he found something more interesting. Through various positions as a professional librarian and researcher, he came to appreciate the value of effective library management, design, planning and the power of technology, as well as libraries' role in informing and building communities. Libraries provide access to essential tools and methods for solving societal problems. The field should pursue dedicated research and directly address and promote its supportive and enabling position in society. Despite bemoaning ambiguous terminology in the field and occasional inadequate thinking, Buckland expressed envy for young professionals for their years of interesting and socially beneficial work ahead.
Slip‐Sliding away: Real world challenges await us
Authors: Haller Thom 
Published: February 2013

AbstractEditor's SummaryFor Thom Haller, an icy spinout in a new truck and frustration with a user manual raised the issue of perceptual affordance, design based on the perceived needs of a user. An object's design ideally serves its user, being visible and clearcut to avoid error, yet design snafus abound. The vehicle manual's verbal references to four‐wheel drive were circuitous and uncertain, and the illustration was no more helpful. Both failed to provide a direct answer to the user's question about how to enable four‐wheel drive or meet reasonable expectations for guidance. For information architects, usability is primary, delivered through sensible and logical placement of information and understandable terminology. Our job is to make the complex clear, and the need is everywhere.