bluuebunny/crossref_metadata_2025_split huggingface dataset:
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf‐Hirschhorn syndrome–associated seizures disorder
Authors: Zollino Marcella , Orteschi Daniela , Ruiter Mariken , Pfundt Rolph , Steindl Katharina , Cafiero Concetta , Ricciardi Stefania , Contaldo Ilaria , Chieffo Daniela , Ranalli Domiziana , Acquafondata Celeste , Murdolo Marina , Marangi Giuseppe , Asaro Alessia , Battaglia Domenica 
Published: April 2014

SummaryObjectiveSeizure disorder is one of the most relevant clinical manifestations in Wolf‐Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K+/H+ exchange and in Ca2+ homeostasis, is currently considered the major candidate gene. However, whether haploinsufficiency limited to LETM1 is enough to cause epilepsy is still unclear. The main purpose of the present research is to define the 4p chromosome regions where genes for seizures reside.MethodsComparison of our three unusual 4p16.3 deletions with 13 literature reports. Array‐comparative genomic hybridization (a‐CGH). Real‐time polymerase chain reaction (RT‐PCR) on messanger RNA (mRNA) of LETM1 and CPLX1. Direct sequencing of LETM1.ResultsThree unusual 4p16.3 deletions were detected by array‐CGH in absence of a obvious clinical diagnosis of WHS. Two of these, encompassing LETM1, were found in subjects who never had seizures. The deletions were interstitial, spanning 1.1 Mb with preservation of the terminal 1.77 Mb region in one case and 0.84 Mb with preservation of the terminal 1.07 Mb region in the other. The other deletion was terminal, affecting a 0.564 Mb segment, with preservation of LETM1, and it was associated with seizures and learning difficulties. Upon evaluating our patients along with literature reports, we noted that six of eight subjects with terminal 4p deletions preserving LETM1 had seizures, whereas seven of seven with interstitial deletions including LETM1 and preserving the terminal 1 Mb region on 4p did not. An additional chromosome region for seizures is suggested, falling within the terminal 1.5 Mb on 4p, not including LETM1.SignificanceWe consider that haploinsufficiency not limited to LETM1 but including other genes acts as a risk factor for the WHS‐associated seizure disorder, according to a comorbidity model of pathogenesis. Additional candidate genes reside in the terminal 1.5 Mb region on 4p, most likely distal to LETM1.A PowerPoint slide summarizing this article is available for download in the Supporting Information section here.
Prevalence of and risk factors for equine obesity in Great Britain based on owner‐reported body condition scores
Authors: Robin C. A. , Ireland J. L. , Wylie C. E. , Collins S. N. , Verheyen K. L. P. , Newton J. R. 
Published: April 2014

SummaryReasons for performing the studyFew data are available on the prevalence of obesity in the general equine population of Great Britain (GB), and its associated risk factors.ObjectivesTo estimate the prevalence of owner‐reported obesity in veterinary‐registered horses and ponies in GB, and identify factors associated with obesity.Study designA cross‐sectional survey of horse/pony owners in GB was undertaken using a postal questionnaire.MethodsThirty veterinary practices randomly selected horse/pony owners to complete a self‐administered postal questionnaire. Owners estimated body condition score using a modified Carroll and Huntington method (1–6 scale), and animals were classified as obese if they were scored as either 5 (fat) or 6 (very fat). Factors associated with obesity were assessed using logistic regression analysis.ResultsPrevalence of obesity was 31.2% (n = 247/792; 95% confidence interval [CI] 27.9–34.2%). Factors associated with increased odds of obesity were breed (P<0.001), ease of maintaining weight (P<0.001) and primary use (P = 0.002). Compared to Thoroughbreds, draught‐type (odds ratio [OR] 7.3; 95% CI 3.1–17.1), cob‐type (OR 5.6; 95% CI 2.5–12.5), native (OR 3.2; 95% CI 1.8–5.78) and Welsh breeds (OR 3.5; 95% CI 1.9–6.2) were more likely to be obese. Animals described as ‘good doers’ were more likely to be obese than those described as readily maintaining normal weight (OR 3.7; 95% CI 2.6–5.3). Compared to competition animals, animals used for pleasure riding (OR 2.5; 95% CI 1.4–4.4) and nonridden animals (OR 2.9; 95% CI 1.5–5.5) were more likely to be obese.ConclusionsIdentification of at‐risk breeds and other horse‐ and management‐level risk factors for obesity will enable optimal targeting of owner education regarding management strategies to reduce the frequency of equine obesity.
Management and horse‐level risk factors for recurrent colic in theUKgeneral equine practice population
Authors: Scantlebury C. E. , Archer D. C. , Proudman C. J. , Pinchbeck G. L. 
Published: April 2014

SummaryReasons for performing studyRecurrent colic occurs frequently in the general horse population but little evidence exists about what factors place horses at greater risk of recurrent colic.ObjectivesTo quantify time‐varying and non time‐varying risk factors for recurrent colic among horses attended by first‐opinion veterinary surgeons in northwest England.Study designNested case‐control study.MethodsA nested case‐control study was conducted on data from a prospective longitudinal cohort study of 127 horses recruited subsequent to an episode of medical colic. Data were collected on management and recurrent colic episodes at 4‐monthly intervals by telephone questionnaires. All recurrent colic episodes were selected as cases; controls were unmatched and randomly selected from all horse‐time at risk. Data relating to the 30 days prior to the date of colic or control selection were used to determine exposure status. Multivariable logistic regression analyses were used to determine risk factors for recurrent colic.ResultsIn total, 59 cases and 177 controls were included. The final model showed that horses that displayed crib‐biting/windsucking (odds ratio [OR] 10.1, 95% confidence interval [CI] 2.5–41.0) or weaving behaviour (OR3.9, 95%CI1.5–10.1) had an increased risk of recurrence of colic. Increasing time at pasture reduced the risk of recurrence (OR0.99, 95%CI0.99–1.0). A significant interaction was found suggesting that the risk associated with crib‐biting/windsucking may be modified by feeding fruit/vegetables; however, further research is required before recommendations for feeding practices can be made.ConclusionsThis study suggests that sufficient access to pasture may be an important means of reducing recurrent colic risk. The behavioural risk factors highlight individuals who may be at increased risk of recurrent colic and whose colic prevention strategies should be carefully managed.
Surgical stress influences cytokine content in autologous conditioned serum
Authors: Fjordbakk C. T. , Johansen G. M. , Løvås A. C. , Oppegård K. L. , Storset A. K. 
Published: April 2014

SummaryReasons for performing studyNo recommendations have been made regarding the relative timing of blood collection for autologous conditioned serum (ACS) preparation and surgical procedures.Objectives1) To identify effects of surgical stress on cytokine levels inACS, 2) identify haematological markers for prediction of cytokine production inACSand 3) investigate the necessity for specialisedACScontainers when preparing a cytokine‐rich serum.Study designExperimentalin vitrostudy.MethodsBlood was drawn from 15 stallions admitted for elective castration preoperatively and 22–24 h post operatively and incubated inACScontainers and plastic vacutainer tubes containingZSerum Clot Activator. Concentrations of interleukin (IL)‐1 receptor agonist (IL‐1Ra),IL‐10,IL‐1β, tumour necrosis factor (TNF)‐α, insulin‐like growth factor (IGF)‐1 and transforming growth factor (TGF)‐β were determined in all serum samples and compared between preparation methods and sampling time byANOVA. Changes in cytokine levels induced by incubation, defined as delta cytokine, were calculated by subtracting the baseline levels from the levels in incubated samples. Based on post operative serum amyloidA(SAA), horses were grouped into ‘mild‘, moderate’ and ‘marked’ surgical stress; delta cytokine levels in post operative samples were compared between these groups byANOVA.ResultsDeltaIGF‐1 was significantly lower in post operative samples compared with preoperative. Horses in the ‘marked’ surgical stress group had significantly lower deltaIL‐1Ra and deltaTGF‐β than the ‘moderate’ group and significantly lower deltaIGF‐1 than the ‘mild’ group. No association between cytokine levels and haematology variables were identified. Cytokine levels were comparable between serum prepared in blood tubes and in specialisedACScontainers.ConclusionsSurgical stress influences the cytokine content inACS. Useful predictors of cytokine production inACSwere not identified. SpecialisedACScontainers may not be necessary for preparation of a cytokine‐rich serum.
Douglas‐fir plantations in Europe: a retrospective test of assisted migration to address climate change
Authors: Isaac‐Renton Miriam G. , Roberts David R. , Hamann Andreas , Spiecker Heinrich 
Published: April 2014

AbstractWe evaluate genetic test plantations of North American Douglas‐fir provenances in Europe to quantify how tree populations respond when subjected to climate regime shifts, and we examined whether bioclimate envelope models developed for North America to guide assisted migration under climate change can retrospectively predict the success of these provenance transfers to Europe. The meta‐analysis is based on long‐term growth data of 2800 provenances transferred to 120 European test sites. The model was generally well suited to predict the best performing provenances along north–south gradients in Western Europe, but failed to predict superior performance of coastal North American populations under continental climate conditions in Eastern Europe. However, model projections appear appropriate when considering additional information regarding adaptation of Douglas‐fir provenances to withstand frost and drought, even though the model partially fails in a validation against growth traits alone. We conclude by applying the partially validated model to climate change scenarios for Europe, demonstrating that climate trends observed over the last three decades warrant changes to current use of Douglas‐fir provenances in plantation forestry throughout Western and Central Europe.
A comparison of computational models with and without genotyping for prediction of response to second‐line HIV therapy
Authors: Revell AD , Boyd MA , Wang D , Emery S , Gazzard B , Reiss P , van Sighem AI , Montaner JS , Lane HC , Larder BA 
Published: April 2014

ObjectivesWe compared the use of computational models developed with and without HIV genotype vs. genotyping itself to predict effective regimens for patients experiencing first‐line virological failure.MethodsTwo sets of models predicted virological response for 99 three‐drug regimens for patients on a failing regimen of two nucleoside/nucleotide reverse transcriptase inhibitors and one nonnucleoside reverse transcriptase inhibitor in the Second‐Line study. One set used viral load, CD4 count, genotype, plus treatment history and time to follow‐up to make its predictions; the second set did not include genotype. Genotypic sensitivity scores were derived and the ranking of the alternative regimens compared with those of the models. The accuracy of the models and that of genotyping as predictors of the virological responses to second‐line regimens were compared.ResultsThe rankings of alternative regimens by the two sets of models were significantly correlated in 60−69% of cases, and the rankings by the models that use a genotype and genotyping itself were significantly correlated in 60% of cases. The two sets of models identified alternative regimens that were predicted to be effective in 97% and 100% of cases, respectively. The area under the receiver‐operating curve was 0.72 and 0.74 for the two sets of models, respectively, and significantly lower at 0.55 for genotyping.ConclusionsThe two sets of models performed comparably well and significantly outperformed genotyping as predictors of response. The models identified alternative regimens predicted to be effective in almost all cases. It is encouraging that models that do not require a genotype were able to predict responses to common second‐line therapies in settings where genotyping is unavailable.
Leaks, legislation and freedom of speech: How can the law effectively promote public‐interest whistleblowing?
Authors: FASTERLING Björn , LEWIS David 
Published: April 2014

AbstractAttention is increasingly being focused on leaking, whistleblowing and associated compliance and incentives questions. The authors outline the differences between leaking and whistleblowing, notably on protection of the disclosers. They review provisions of international conventions on human rights and corruption, and compare approaches to protecting freedom of speech in France, Germany, the United Kingdom and the United States. Their findings highlight the complex, sometimes conflicting issues involved: public, individual, commercial and financial interests; abuse of power; security; confidentiality; the individual as law enforcer; and the employment relationship.
The ILO's Domestic Workers Convention and Recommendation: A window of opportunity for social justice
Authors: OELZ Martin 
Published: April 2014

AbstractDomestic workers are a predominantly female workforce whose social and labour rights remained largely unattended for decades. Addressing this has become more urgent, as demand for household and personal care services is increasing. Convention No. 189 and Recommendation No. 201 set out global minimum standards for domestic work. The author first describes international labour and human rights law on domestic work prior to 2011. He then examines the instruments' definitions and scope and problems of particular groups; their provisions on working time, pay, work environment and living conditions; social security; and implementation and enforcement.
Changes in nerve‐ and endothelium‐mediated contractile tone of the corpus cavernosum in a mouse model of pre‐mature ageing
Authors: Lafuente‐Sanchis A. , Triguero D. , Garcia‐Pascual A. 
Published: April 2014

SummaryErectile dysfunction (ED) is very prevalent in the older population, although the ageing‐related mechanisms involved in the development of ED are poorly understood. We propose that age‐induced differences in nerve‐ and endothelium‐mediated smooth muscle contractility in the corpus cavernosum (CC) could be found between a senescent‐accelerated mouse prone (SAMP8) and senescent‐accelerated mouse resistant (SAMR1) strains. We analysed the changes in muscle tension induced by electrical field stimulation (EFS) or agonist addition ‘in vitro’, assessing nerve density (adrenergic, cholinergic and nitrergic), the expression of endothelial nitric oxide synthase (eNOS), cGMP accumulation and the distribution of interstitial cells (ICs) by immunofluorescence. We observed no change in both the nerve‐dependent adrenergic excitatory contractility at physiological levels of stimulation and in the nitrergic inhibitory response in SAMP8 animals. Unlike cholinergic innervation, the density of adrenergic and nitrergic nerves increased in SAMP8 mice. In contrast, smooth muscle sensitivity to exogenous noradrenaline (NA) was slightly reduced, whereas cGMP accumulation in response to EFS and DEA/NO, and relaxations to DEA/NO and sildenafil, were not modified. No changes in the expression of eNOS and in the distribution of vimentin‐positive ICs were detected in the aged animals. The ACh induced atropine‐sensitive biphasic endothelium‐dependent responses involved relaxation at low concentrations that turned into contractions at the highest doses. CC relaxation was mainly because of the production of NO together with some relaxant prostanoid, which did not change in SAMP8 animals. In contrast, the contractile component was considerably higher in the aged animals and it was completely inhibited by indomethacin. In conclusion, a clear imbalance towards enhanced production of contractile prostanoids from the endothelium may contribute to ED in the elderly. On the basis of these data, we propose the senescence‐accelerated mouse model as a reliable tool to analyse the basic ageing mechanisms of the CC.
Characterization of Barley Leaf Tolerance to Drought Stress by Chlorophyll Fluorescence and Electron Paramagnetic Resonance Studies
Authors: Filek M. , Łabanowska M. , Kościelniak J. , Biesaga‐Kościelniak J. , Kurdziel M. , Szarejko I. , Hartikainen H. 
Published: April 2014

AbstractTwo kinds of barley genotypes with various water‐stress tolerances, tolerant Cam/B1 and sensitive Maresi, were subjected to 10‐day soil‐drought stress in seedling and flag leaf developmental phases. After this time, both genotypes regardless of the growth stage showed a decrease in quantum yield of PSII photochemistry (ΦPSII) upon stress treatment; however, this effect was stronger in the sensitive plants than in the tolerant ones. The drought stress in the flag leaf stage was associated with an increase in superoxide dismutase (SOD) level in both genotypes, whereas in seedlings, this effect was observed only for Maresi. The activity of other enzymes (catalase and peroxidase) was changed only in small degree. An increase in proline levels and activities of Δ1‐pyrroline‐5‐carboxylate synthetase (P5CS) and ornithine delta‐aminotransferase (OAT) were observed independently of genotype and the phase of plant development, whereas the activity pyruvate dehydrogenase (PDH) decreased in tolerant genotype. Moreover, changes in the concentration of monocarbohydrates (glucose and fructose) and dicarbohydrates (saccharose, raffinose and maltose) were found: in seedlings, the amount of all soluble sugars increased, while in flag leaves decreased. The drought treatment resulted in a drop in starch level in the tolerant genotype, but in the sensitive one, the content of this substance increased in both developmental stages. EPR studies allowed the determination of the amount and character of organic radicals present in leaves. In control conditions, the content of these radical species was higher in the sensitive genotype than in tolerant one and decreased upon water stress, with the exception of flag leaves of the sensitive plant. Simulation procedure revealed four types of signals in the EPR spectra. One of them was attributed to a chlorophyll a cation and decreased upon drought. The second, ascribed to semiquinone radicals, reflected the redox balance disturbed by water deficit. The two remaining signals were connected with carbon‐centred radicals situated in the carbohydrate matrix. Their number was correlated with starch concentration.
Exogenous Abscisic Acid Application During Grain Filling in Winter Wheat Improves Cold Tolerance of Offspring's Seedlings
Authors: Li X. , Cai J. , Liu F. , Dai T. , Cao W. , Jiang D. 
Published: April 2014

AbstractLow temperature seriously depresses seed germination and seedling growth in winter wheat (Triticum aestivum L.). In this study, wheat plants were sprayed with abscisic acid (ABA) and fluridone (inhibitor of ABA biosynthesis) at 19 days after anthesis (DAA) and repeated at 26 DAA. The seeds of those plants were harvested, and seed germination and offspring's seedling growth under low temperature were evaluated. The results showed that exogenous ABA application decreased seed weight and slightly reduced seed set and seed number per spike. Under low temperature, seeds from ABA‐treated plants showed reduced germination rate, germination index, growth of radicle and coleoptile, amylase activity and depressed starch degradation as compared with seeds from non‐ABA‐treated plants; however, activities of the antioxidant enzymes in both germinating seeds and seedling were enhanced from those exposed to exogenous ABA, resulting in much lowered malondialdehyde (MDA) and H2O2 concentrations and production rate. In addition, the maximum quantum efficiency of photosystem II was also enhanced in ABA‐treated offspring's seedlings. It is concluded that exogenous ABA treatment at later grain‐filling stage could be an effective approach to improve cold tolerance of the offspring during seed germinating and seedlings establishment in winter wheat.
Pyrochlore‐Free Ferroelectric 0.64Pb(Ni1/3Nb2/3)O3–0.36PbTiO3 Ceramics Synthesized by the Combustion Method
Authors: Wang Jianlin , Tang Jian , Lei Zhiwei , Liu Min , Knize Randy J. , Lu Yalin 
Published: April 2014

By adopting Nb2O5, HNO3 and coordination agents EDTA as raw materials, pyrochlore‐free 0.64Pb(Ni1/3Nb2/3)O3–0.36PbTiO3(0.64PNN–0.36PT) powders were successfully synthesized via a combustion route. Free of pyrochlore phase was realized by the chelation formation of EDTA‐metal ions which isolate niobium and lead oxides and then prevent the formation of pyrochlore phases, therein generate the desired perovskite phases. Comparing the results with similar samples synthesized by the Columbite method, the new 0.64PNN–0.36PT ceramics here shown much better dielectric and ferroelectric performances: a maximum dielectric constant of 22 856 at 1 kHz and a remnant polarization of 21.6 μC/cm2 at 40 kV/cm.
Quantitative gingival crevicular fluid proteome in health and periodontal disease using stable isotope chemistries and mass spectrometry
Authors: Carneiro Leandro G. , Nouh Hesham , Salih Erdjan 
Published: April 2014

AbstractAimApplication of quantitative stable isotope‐labelling chemistries and mass spectrometry (MS) to determine alterations in gingival crevicular fluid (GCF) proteome in periodontal disease.Material and MethodsQuantitative proteome of GCF from 40 healthy individuals versus 40 patients with periodontal disease was established using 320 GCF samples and stable isotope‐labelling reagents, ICAT and mTRAQ, with MS technology and validated by enzyme‐linked immunosorbent methods.ResultsWe have identified 238 distinct proteins of which 180 were quantified in GCF of both healthy and periodontal patients with additional 26 and 32 distinct proteins that were found only in GCF of healthy or periodontal patients. In addition, 42 pathogenic bacterial proteins and 11 yeast proteins were quantified. The data highlighted a series of proteins not quantified previously by large‐scale MS approaches in GCF with relevance to periodontal disease, such as host‐derived Ig alpha‐2 chain C, Kallikrein‐4, S100‐A9, transmembrane proteinase 13, peptidase S1 domain, several collagen types and pathogenic bacterial proteins, e.g. formamidase, leucine aminopeptidase and virulence factor OMP85.ConclusionsThe innovative analytical approaches provided detailed novel changes in both host and microbial derived GCF proteomes of periodontal patients. The study defined 50 host and 16 pathogenic bacterial proteins significantly elevated in periodontal disease most of which were novel with significant potential for application in the clinical arena of periodontal disease.