bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome
Authors: Seo S. H. , Hwang S. M. , Ko J. M. , Ko J. S. , Hyun Y. J. , Cho S. I. , Park H. , Kim S. Y. , Seong M.‐W. , Park S. S. 
Published: June 2014

AbstractArthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B and VIPAS39. Here, we report novel mutations identified in four patients with ARC syndrome. We analyzed the entire coding regions of the VPS33B and VIPAS39 genes by direct sequencing. To detect novel splice site mutations, mRNA transcripts were analyzed by reverse transcription‐polymerase chain reaction (RT‐PCR) and sequencing. All four patients had compound heterozygous variants in the VPS33B gene. One patient had a previously reported splice site variant with unknown significance, c.239+5G>A, and a novel nonsense mutation, c.621G>A. The other three patients had the c.403+2T>A mutation, and each of them carried one of the splice site variants, c.239+5G>A or c.499−11G>A. c.239+5G>A and c.499−11G>A created novel splice sites which resulted in abnormal transcripts. No significant VIPAS39 mutation was detected in all patients. In patients suspected with ARC syndrome, mutation analysis of the VPS33B gene should be employed as a primary diagnostic test before performing invasive testing procedures such as organ biopsies. Performing mRNA analysis can be useful in predicting the pathogenic phenotype when the mutation seems to affect a normal splicing mechanism.
Diagnosing unexplained fever: can quick diagnosis units replace inpatient hospitalization?
Authors: Brito‐Zerón Pilar , Nicolás‐Ocejo David , Jordán Anna , Retamozo Soledad , López‐Soto Alfonso , Bosch Xavier 
Published: June 2014

AbstractBackgroundOutpatient quick diagnosis units (QDUs) have become an increasingly recognized alternative to hospitalization for the diagnosis of a number of potentially serious diseases. No study has prospectively evaluated the usefulness ofQDUfor the diagnosis of unexplained fever.Materials and methodsWe prospectively assessed patients referred toQDUdue to fever of uncertain nature (FUN), defined as a temperature > 38 °C during at least 1 week and no diagnosis after a previous evaluation. We also evaluated consecutive patients withFUNwho were hospitalized during the same period.QDUand hospital costs were analysed by micro‐costing techniques.ResultsWe evaluated 176QDUpatients and 168 controls.QDUpatients were younger and required fewer investigations than controls.QDUpatients had higher prevalence of viral infections (36% vs. 8%,P < 0·001) and lower prevalence of bacterial infections (6% vs. 46%,P < 0·001) and malignancies (2% vs. 14%,P < 0·001). While time‐to‐diagnosis ofQDUpatients was longer than length‐of‐stay of controls (25·82 vs.12·89 days,P < 0·001), 56% ofQDUpatients only required up to two visits. Cost perQDUpatient was €644·59, while it was €4404·64 per hospitalized patient.ConclusionsQDUpatients withFUNwere younger and had less serious diseases than controls including more viral and less bacterial infections and fewer malignancies. Mainly owing to untimely diagnostic reports, time‐to‐diagnosis was longer inQDUpatients. Cost‐savings inQDUwere substantial. Using objective tools to evaluate the condition severity and general health status ofFUNpatients could help decide the most appropriate setting for their diagnostic study.
Art as Alterity in Education
Authors: Zhao Guoping 
Published: June 2014

AbstractIn education, art has often been perceived as entertainment and decoration and is the first subject to go when there are budget cuts or test‐score pressures. Drawing on Emmanuel Lévinas's idea of the primacy of radical alterity that breaks the totality of our being, enables self‐transformation and ethics, and ensures community as a totality of singularities, and on Maurice Blanchot's expansion of radical alterity to art, Guoping Zhao argues that the role of art in education must be reconsidered and greatly expanded. Art as alterity takes students beyond where they are and what they have, and teaches them to appreciate and respect difference and diversity. If art as alterity is so essential to human subjectivity and society, and if education is conceived as a process of human growth and formation, art as alterity is essential to education and needs to be more seriously engaged and more fully integrated into the whole educational process instead of being isolated in arts education. Zhao concludes the essay by pondering the pedagogical implications of such a reconsideration of art as alterity in education.
The Future of the Humanities in Today's Financial Markets
Authors: Lea David 
Published: June 2014

AbstractIn this essay David Lea approaches the decline in the study and teaching of the humanities within the university context from a financial perspective. As humanities departments are either closed down or have their curriculum attenuated, it is obvious that the revenue previously available to support such programs has not been forthcoming. This change is often explained as the result of cost cutting necessary during periods of financial crisis, but this justification is belied by the fact that while the humanities have suffered during recent “financial crises,” other areas within the university have grown. Resources that could have supported the humanities have instead been applied elsewhere: first, to increasing the administration and ancillary support staff; and second, in support of subjects oriented toward technology and the market. Ultimately, Lea links the decline of the humanities to the growing financialization of the economy, the ideology of managerialism, and a contemporary tradition that accords with the “procedures of the realms of the market and of liberal individualist politics.”
Phosphorus fractions in bulk subsoil and its biopore systems
Authors: Barej J. A. M. , Pätzold S. , Perkons U. , Amelung W. 
Published: June 2014

SummaryImproving phosphorus (P) accessibility in subsoils could be a key factor for sustainable crop management. This study aims to explain the quantity of different P fractions in subsoil and its biopore systems, and to test the hypothesis that crops with either fibrous (fescue) or tap‐root systems (lucerne and chicory) leave behind a characteristic P pattern in bulk subsoil, biopore linings and the rhizosphere. The crops were cultivated for up to 3 years in a randomized field experiment on a Haplic Luvisol developed from loess. Aqua regia‐extractable P (referred to as total P) and calcium acetate lactate‐extractable P (PCAL) were assessed at 0–30 (Ap horizon), 30–45 (E/B horizon), 45–75 and 75–105 cm subsoil depths. In addition, sequential P fractionation was performed on different soil compartments between 45 and 75 cm depths. The results showed that total P stocks below the Ap horizon (30–105 cm) amounted to 5.6 t ha−1, which was twice as large as in the Ap, although the Ap contained larger portions of PCAL. Both PCAL and sequential P extractions showed that biopore linings and the rhizosphere at the 45–75 cm depth were enriched, rather than depleted, in P. The content of inorganic P (81–90% of total P) increased in the following order: bulk soil = biopores <2 mm ≤ rhizosphere ≤ biopores >2 mm. Biopores >2 mm and rhizosphere soil were clearly enriched in resin‐ and NaHCO3‐extractable Pi and Po fractions. However, we failed to attribute these P distribution patterns to different crops, suggesting that major properties of biopore P originated from relict biopores, rather than being influenced by recent root systems. The stocks of the sum of these P fractions in the bulk subsoil (182 kg ha−1 at 45–75 cm depth) far exceeded those in the biopores (3.7 kg ha−1 in biopores >2 mm and 0.2 kg ha−1 in biopores <2 mm). Hence, these biopores may form attractive locations for root growth into the subsoil but are unlikely to sustain overall plant nutrition.
Nitrogen deposition impacts on the amount and stability of soil organic matter in an alpine meadow ecosystem depend on the form and rate of applied nitrogen
Authors: Fang H. J. , Cheng S. L. , Yu G. R. , Yang X. M. , Xu M. J. , Wang Y. S. , Li L. S. , Dang X. S. , Wang L. , Li Y. N. 
Published: June 2014

SummaryThe effects of atmospheric nitrogen (N) deposition on carbon (C) sequestration in terrestrial ecosystems are controversial. Therefore, it is important to evaluate accurately the effects of applied N levels and forms on the amount and stability of soil organic carbon (SOC) in terrestrial ecosystems. In this study, a multi‐form, small‐input N addition experiment was conducted at the Haibei Alpine Meadow Ecosystem Research Station from 2007 to 2011. Three N fertilizers, NH4Cl, (NH4)2SO4 and KNO3, were applied at four rates: 0, 10, 20 and 40 kg N ha−1 year−1. One hundred and eight soil samples were collected at 10‐cm intervals to a depth of 30 cm in 2011. Contents and δ13C values of bulk SOC were measured, as well as three particle‐size fractions: macroparticulate organic C (MacroPOC, > 250 µm), microparticulate organic C (MicroPOC, 53–250 µm) and mineral‐associated organic C (MAOC, < 53 µm). The results show that 5 years of N addition changed SOC contents, δ13C values of the bulk soils and various particle‐size fractions in the surface 10‐cm layer, and that they were dependent on the amounts and forms of N application. Ammonium‐N addition had more significant effects on SOC content than nitrate‐N addition. For the entire soil profile, small additions of N increased SOC stock by 4.5% (0.43 kg C m−2), while medium and large inputs of N decreased SOC stock by 5.4% (0.52 kg C m−2) and 8.8% (0.85 kg C m−2), respectively. The critical load of N deposition appears to be about 20 kg N ha−1 year−1. The newly formed C in the small‐input N treatment remained mostly in the > 250 µm soil MacroPOC, and the C lost in the medium or large N treatments was from the > 53 µm POC fraction. Five years of ammonium‐N addition increased significantly the surface soil POC:MAOC ratio and increased the instability of soil organic matter (SOM). These results suggest that exogenous N input within the critical load level will benefit C sequestration in the alpine meadow soils on the Qinghai–Tibetan Plateau over the short term.
Comparison of the effects of clonidine, loperamide and metoclopramide in two models of gastric emptying in the rat
Authors: Goineau Sonia , Guillaume Philippe , Castagné Vincent 
Published: June 2014

AbstractSeveral methods are used to evaluate gastric emptying (GE) in rats, which is an important endpoint in preclinical drug development. Although phenol red model or monitoring of plasma acetaminophen levels are well‐established procedures for GE assessment, their capacity to detect the effects of pharmacological agents has rarely been compared. This study was therefore designed to evaluate clonidine with loperamide and metoclopramide in the two test models. Rats were administered phenol red or acetaminophen test meals. The remaining amount of phenol red in the stomach or the time course of plasma acetaminophen levels was then measured. In the phenol red test, loperamide (8 mg/kg, p.o.) and clonidine (100 μg/kg, s.c.) decreased GE (−88 and −42%, P < 0.001 and P < 0.01, respectively). Metoclopramide (10 mg/kg, s.c.) accelerated GE (+42%, P < 0.01). Loperamide reduced acetaminophen plasma levels (−45% at T15 min, P < 0.05), suggesting a delayed GE. Clonidine and metoclopramide increased acetaminophen plasma levels (+115 and +152% at T15 min, P < 0.05 and P < 0.001, respectively), suggesting an accelerated GE. The three substances did not affect plasma acetaminophen levels when acetaminophen was subcutaneously injected, thereby suggesting that acetaminophen metabolism/excretion was not modified. Whereas the phenol red test allows the evaluation of GE at a single time point, the measurement of plasma acetaminophen levels over the time would appear more informative. Nevertheless, the fact that clonidine, in contrast to expectation, increased plasma acetaminophen levels, suggests that data obtained with the acetaminophen method should be interpreted with caution for new chemical entities susceptible to modify absorption of acetaminophen from the small intestine.
Fatigue life prediction of low‐alloy steel samples undergoing uniaxial random block loading histories based on different energy‐based damage descriptions
Authors: Kadhim N. A. , Mustafa M. , Varvani‐Farahani A. 
Published: June 2014

ABSTRACTFatigue damage of low‐alloy steel samples tested earlier under uniaxial random loading spectra was evaluated using energy‐based models of Smith–Watson–Topper, Macha (M), Ellyin and Varvani‐Farahani with different descriptions in damage assessment. Damage over peak‐valley events of block loading histories was accumulated by means of these models. Smith–Watson–Topper approach involved stress and strain components on the maximum principal plane to evaluate fatigue life. M model related the life of samples to damage values calculated from the applied stress and strain histories. Ellyin model assessed damage of samples on the basis of dissipated hysteresis energy generated over fatigue cycles. Varvani‐Farahani damage approach assessed fatigue life on the basis of tensile and shear energies acting on critical plane over peak‐valley events of block histories. The predicted lives based on these approaches were compared with those of experimental data reported by M and coworkers. The choice of energy‐based models in damage assessment of steel samples was discussed on the basis of model description and terms of damage models.
Changes in the distribution of multispecies pest assemblages affect levels of crop damage in warming tropical Andes
Authors: Crespo‐Pérez Verónica , Régnière Jacques , Chuine Isabelle , Rebaudo François , Dangles Olivier 
Published: June 2014

AbstractClimate induced species range shifts might create novel interactions among species that may outweigh direct climatic effects. In an agricultural context, climate change might alter the intensity of competition or facilitation interactions among pests with, potentially, negative consequences on the levels of damage to crop. This could threaten the productivity of agricultural systems and have negative impacts on food security, but has yet been poorly considered in studies. In this contribution, we constructed and evaluated process‐based species distribution models for three invasive potato pests in the Tropical Andean Region. These three species have been found to co‐occur and interact within the same potato tuber, causing different levels of damage to crop. Our models allowed us to predict the current and future distribution of the species and therefore, to assess how damage to crop might change in the future due to novel interactions. In general, our study revealed the main challenges related to distribution modeling of invasive pests in highly heterogeneous regions. It yielded different results for the three species, both in terms of accuracy and distribution, with one species surviving best at lower altitudes and the other two performing better at higher altitudes. As to future distributions our results suggested that the three species will show different responses to climate change, with one of them expanding to higher altitudes, another contracting its range and the other shifting its distribution to higher altitudes. These changes will result in novel areas of co‐occurrence and hence, interactions of the pests, which will cause different levels of damage to crop. Combining population dynamics and species distribution models that incorporate interspecific trade‐off relationships in different environments revealed a powerful approach to provide predictions about the response of an assemblage of interacting species to future environmental changes and their impact on process rates.
Tree mineral nutrition is deteriorating in Europe
Authors: Jonard Mathieu , Fürst Alfred , Verstraeten Arne , Thimonier Anne , Timmermann Volkmar , Potočić Nenad , Waldner Peter , Benham Sue , Hansen Karin , Merilä Päivi , Ponette Quentin , de la Cruz Ana C , Roskams Peter , Nicolas Manuel , Croisé Luc , Ingerslev Morten , Matteucci Giorgio , Decinti Bruno , Bascietto Marco , Rautio Pasi 
Published: June 2014

AbstractThe response of forest ecosystems to increased atmospheric CO2 is constrained by nutrient availability. It is thus crucial to account for nutrient limitation when studying the forest response to climate change. The objectives of this study were to describe the nutritional status of the main European tree species, to identify growth‐limiting nutrients and to assess changes in tree nutrition during the past two decades. We analysed the foliar nutrition data collected during 1992–2009 on the intensive forest monitoring plots of the ICP Forests programme. Of the 22 significant temporal trends that were observed in foliar nutrient concentrations, 20 were decreasing and two were increasing. Some of these trends were alarming, among which the foliar P concentration in F. sylvatica, Q. Petraea and P. sylvestris that significantly deteriorated during 1992–2009. In Q. Petraea and P. sylvestris, the decrease in foliar P concentration was more pronounced on plots with low foliar P status, meaning that trees with latent P deficiency could become deficient in the near future. Increased tree productivity, possibly resulting from high N deposition and from the global increase in atmospheric CO2, has led to higher nutrient demand by trees. As the soil nutrient supply was not always sufficient to meet the demands of faster growing trees, this could partly explain the deterioration of tree mineral nutrition. The results suggest that when evaluating forest carbon storage capacity and when planning to reduce CO2 emissions by increasing use of wood biomass for bioenergy, it is crucial that nutrient limitations for forest growth are considered.
The involvement of the HLA‐DQB1 alleles in the risk and the severity of Iranian coeliac disease patients
Authors: Zamani M. , Modares‐sadegi M. , Shirvani F. , Zamani H. , Emami M. H. 
Published: June 2014

SummaryCoeliac disease (CD) is a highly prevalent autoimmune disorder that is triggered by the ingestion of wheat gluten and related proteins in genetically susceptible individuals. The CD is associated with human leucocyte antigen (HLA) genes particularly with HLA‐DQ alleles encoding HLA‐DQ2 and DQ8 proteins. To define risk and severity alleles for CD, a total of 120 definite CD patients and 100 healthy controls were genotyped for HLA‐DQB1 gene. HLA‐DQB1 genotyping was performed in all patients and controls using PCR‐SSP technique, and to evaluate the clinical relevance of testing for HLA‐DQB1 and determining absolute risk of disease, prevalence‐corrected positive predictive value and prevalence‐corrected negative predictive value (PcPPV and PcNPV) were calculated. Our results for a first time show that DQB1*02:00 and DQB1*03:02 alleles and DQB1*02:01/03:02 genotype very significantly associated with increased risk of patients with CD, and DQB1*03:01,4 allele provides protection against CD in Iranian patients. Furthermore, the PcPPV for DQB*02:01 and 03:02 alleles in CD were 0.014 and 0.012, respectively, and the highest absolute risk presented by DQB*0201/0302 genotype (PcPPV = 0.079) and 98% of patients with CD carried DQB1*02:01/x or DQB1*03:02/x genotype. The results also clearly demonstrated that the DQB1*02:01 allele significantly associated with severity of CD, while DQB1*03:02 allele associated with mild form of CD. These results suggest that clinically suspected individuals for CD and first‐degree relatives of patients with CD to be screened for HLA‐DQB*0201 and DQB*0302 alleles for possible early diagnosis and treatments.
Combined Separation of Cu, Fe and Zn from Rock Matrices and Improved Analytical Protocols for Stable Isotope Determination
Authors: Sossi Paolo A. , Halverson Galen P. , Nebel Oliver , Eggins Stephen M. 
Published: June 2014

Isotope ratios of heavy elements vary on the 1/10000 level in high temperature materials, providing a fingerprint of the processes behind their origin. Ensuring that the measured isotope ratio is precise and accurate depends on employing an efficient chemical purification technique and optimised analytical protocols. Exploiting the disparate speciation of Cu, Fe and Zn in HCl and HNO3, an anion exchange chromatography procedure using AG1‐×8 (200–400 mesh) and 0.4 × 7 cm Teflon columns was developed to separate them from each other and matrix elements in felsic rocks, basalts, peridotites and meteorites. It required only one pass through the resin to produce a quantitative and pure isolate, minimising preparation time, reagent consumption and total analytical blanks. A ThermoFinnigan Neptune Plus MC‐ICP‐MS with calibrator‐sample bracketing and an external element spike was used to correct for mass bias. Nickel was the external element in Cu and Fe measurements, while Cu corrected Zn isotopes. These corrections were made assuming that the mass bias for the spike and analyte element was identical, and it is shown that this did not introduce any artificial bias. Measurement reproducibilities were ± 0.03‰, ± 0.04‰ and ± 0.06‰ (2s) for δ57Fe, δ65Cu and δ66Zn, respectively.
Overview of the Enhanced Natural Gestures Instructional Approach and Illustration of Its Use with Three Students with Angelman Syndrome
Authors: Calculator Stephen , Diaz‐Caneja Sela Patricia 
Published: June 2014

BackgroundThis investigation details procedures used to teach enhanced natural gestures (ENGs) and illustrates its use with three students with Angelman syndrome (AS).Materials and MethodsThemes were extracted, using a process of content analysis, to organize individuals' feedback pertaining to previous versions of the instructional programme. A ‘B’ case study design was then employed to follow administration of the modified programme with three students in Madrid, Spain. Programme impact was examined relative to changes in each student's uses of ENGs spontaneously and in response to non‐specific verbal prompts, along with team members' responses to a questionnaire designed to evaluate programme efficacy.ResultsTwo of the three students demonstrated particularly rapid and spontaneous uses of their ENGs. Both quantitative and qualitative feedback from teams supported programme efficacy for all three students.ConclusionsThe approach appears viable for individuals with AS and has implications for individuals presenting other diagnoses as well. Additional educational/clinical and research implications are discussed.
Stock Option Schedules and Managerial Opportunism
Authors: Liu Linxiao , Liu Harrison , Yin Jennifer 
Published: June 2014

AbstractThis study investigates some of the most important avenues that mangers use to manipulate the value of stock option grants. It also compares the use of these avenues in firms that issue scheduled options and in firms that issue irregular options. We document that before the Sarbanes‐Oxley Act (SOX), cumulative abnormal returns were significantly negative in the 30‐day window before an option grant, but cumulative abnormal returns turned significantly positive after the option grant. This pattern is more pronounced for irregular options, and the evidence supports the hypothesis that opportunistic manipulation of strike prices by CEOs maximized the value of the option grants. We find the disclosure requirement of option grants included in SOX successfully curtails opportunistic behavior in firms that issue scheduled options, but has a lesser effect stopping opportunistic behavior in firms that issue irregular options. Firms granting irregular options take larger negative discretionary accruals in advance of the grant than firms that grant scheduled options, and the degree of downward earnings management increases with the size of the subsequent grant. We further show that firms are more likely to issue irregular options when they offer larger option grants, have a less independent board, receive less analyst coverage, have a new CEO, exhibit poor prior performance, have higher stock return volatility and are smaller in size.