bluuebunny/crossref_metadata_2025_split huggingface dataset:
Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment
Authors: Rodenas-Cuadrado Pedro , Pietrafusa Nicola , Francavilla Teresa , La Neve Angela , Striano Pasquale , Vernes Sonja C. 
Published: December 2015

ABSTRACTBackgroundHeterozygous mutations inCNTNAP2have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia. However heterozygousCNTNAP2mutations are also common in the normal population. Conversely, homozygous mutations are rare and have not been found in unaffected individuals.Case presentationWe describe a consanguineous family carrying a deletion inCNTNAP2predicted to abolish function of its protein product, CASPR2. Affected family members show epilepsy, facial dysmorphisms, severe intellectual disability and impaired language. We compared these patients with previously reported individuals carrying homozygous mutations inCNTNAP2and identified a highly recognisable phenotype.ConclusionsWe propose that CASPR2 loss produces a syndrome involving early-onset refractory epilepsy, intellectual disability, language impairment and autistic features that can be recognized as CASPR2 deficiency disorder. Further screening for homozygous patients meeting these criteria, together with detailed phenotypic investigations will be crucial for understanding the contribution ofCNTNAP2to normal and disrupted development.
Matching volatile demand with transportation services in Vietnam
Authors: Tan Albert , Hilmola Olli-Pekka , Binh Do Huy 
Published: December 2015

Purpose
– Demand for retail transportation is typically volatile, and it is driven by the end of period (month) spiky deliveries. This is especially the case in emerging markets. The purpose of this paper is to examine situation in one of the leading Vietnamese logistics service company with numerous customers within the area of Ho Chi Minh City.

Design/methodology/approach
– Research work is based on a case study within a company called Gemadept, who is providing logistics services in Vietnam. Researchers were given access to the company data on distribution system, and the authors had collected daily data from transportation operations.

Findings
– Considerable truck utilization can be achieved even with volatile retail demand environment if optimization is applied to allocate trucks and drivers on certain routes and customer demand points. Relaxing service level of customers shall improve situation further, but not significantly. However, from logistics service point of view, it would be best to use numerous shifts per day (night shift option) to distribute products – this would enable high utilization of distribution fleet while overcoming spiky demand.

Research limitations/implications
– Analyses are dependent on a single case study of one logistics service provider in Vietnam. While this may limit the findings to some extent, but with rich case data and observations within the company distribution system, it provides the required depth to build an optimized model for the company.

Practical implications
– In volatile demand environment, it is important to allocate trucks and drivers as well as work schedule in a systematic order, and not based on trial-and-error human intervened timetable. System perspective also enables evaluation of different strategies and their implications on performance.

Originality/value
– Research work represents one of the seminal studies of Vietnamese retail logistics sector, and verifies that demand uncertainty is high in such environment in addition to exhibiting the end of period demand spikes (hockey stick effect).
Exploring factors facilitating and hindering college-university Pathway Program completion
Authors: Percival Jennifer , DiGiuseppe Maurice , Goodman Bill , LeSage Ann , Longo Fabiola , De La Rocha Arlene , Hinch Ron , Samis John , Sanchez Otto , Augusto Rodrigues Anna , Raby Phil 
Published: December 2015

Purpose– The purpose of this paper is to explore not only the academic measures such as grade point average of success of college-to-university transfer programs (Pathway Programs), but also the social-cultural facilitators and barriers throughout the students’ Pathway experience.Design/methodology/approach– The experience of students and academic advisors moving between Queensdale College and North Star University (NSU) (pseudonyms) were analyzed using a mixed-methods approach including analysis of data from online surveys, secondary data (course performance), and focus group interviews.Findings– Students who are able to enter the Pathway Programs at NSU perform on average better than their four-year traditional program peers. There remain a number of social-cultural barrier which need to be addressed to improve the overall experience of these transfer students.Practical implications– The results from this study will assist the administrative decision makers in designing Pathways and their associated communication plans in order to meet the needs of the students with tools and supports that are both perceived by the students as valuable and are improving their Pathway experience and ultimately their academic performance.Originality/value– The move to develop Pathway Programs in Ontario is a new phenomenon, even in provinces where this is more common, few studies exist which consider the social-cultural aspects of the student journey between the two institutions. This study moves beyond the standard academic performance data and provides insight into the critical role played by the social aspects in higher education experiences.
Parental participation fees in school expenses in Israel
Authors: Shaked Haim 
Published: December 2015

Purpose
– Many countries throughout the world provide all children with free education. However, sometimes there are user charges in publically funded schools worldwide. The purpose of this paper is to explore parental participation fees in school expenses in Israel, depicting the current situation and analyzing its implications.

Design/methodology/approach
– Public documents from Israel were explored, such as guidelines of the CEO of the Ministry of education, laws, court rulings, publications of the Central Bureau of Statistics, reports of State Comptroller and reports of various committees. Document analysis was a three-stage process – condensing, coding and categorizing. The analysis was based on interpretation of the documents collected, attempting to detect explicit and implicit meanings concerning the topic at hand.

Findings
– Findings show that the Israeli policy in regard to parental payments has three main characteristics: first, high basic payments; second, payments for learning activities; and third, insufficient enforcement.

Practical implications
– According to the findings of this study, it would be advisable to re-examine the Israeli policy in regard to school charges that parents are required to pay.

Originality/value
– There is not much research to be found on the subject of parental participation fees in school expenses. The findings of this study expand the limited knowledge existing on this topic.
Primary school principals ' job satisfaction and occupational stress
Authors: Darmody Merike , Smyth Emer 
Published: December 2015

Purpose– The purpose of this paper is to explore the factors associated with occupational stress and job satisfaction among Irish primary school principals. A principal’s job has become increasingly demanding and complex in recent decades. However, there is little current research into their levels of stress and job satisfaction, particularly based on nationally representative data. In order to understand how principals perceive their job and how best to support them, new insights into factors contributing to job satisfaction and stress of school principals are warranted.Design/methodology/approach– The paper draws on an analysis of Growing up in Ireland data, a national representative study of nine-year-old children in Ireland. In order to explore the simultaneous impact of individual and school factors on stress and job satisfaction of principals in Irish primary schools, multivariate analysis was used. Analyses in this paper are based on responses from principals in 898 schools.Findings– The results of the study indicate that a significant number of primary school principals in Ireland are not very satisfied and feel stressed about their job. Regression analysis revealed that job satisfaction and occupational stress were related to a complex set of personal characteristics, working conditions, school context and teacher climate.Research limitations/implications– The data are limited to primary school principals. However, this is in itself an advantage since it allows for greater insights into variation across principals in job satisfaction and stress, holding the effect of school level constant.Originality/value– This is the first study of its kind in the Irish context that explores the simultaneous effect of a number of factors on school principals’ stress and job satisfaction.
Trade openness and structural vulnerability in developing countries
Authors: Gnangnon Sena Kimm 
Published: December 2015

Purpose– The purpose of this paper is to investigate how trade openness affects the structural vulnerability of developing countries. The analysis is conducted on both the entire sample of 105 countries as well as two sub-samples, namely least developed countries (LDCs) and non-LDCs.Design/methodology/approach– To perform the analysis, the author employs fixed-effects (within) regressions supplemented by instrumental variables technique based on the two-step generalized methods of moments approach.Findings– The author finds empirical evidence that although trade policy liberalization reduces the structural vulnerability on the entire sample developing countries, no statistically significant effect of such liberalization is obtained either on LDCs or non-LDCs. However, trade policy liberalization appears to reduce countries’ exposure to shocks, result that applies to the entire sample as well as the two sub-samples. The author also observes that trade policy liberalization exerts no (statistically) significant effect on the size of shocks that affect developing countries, result that applies to both the full sample and the sub-samples of LDCs and non-LDCs.Research limitations/implications– In the absence of a well-established theoretical framework on how trade openness affects the structural vulnerability of developing, the author adopts a pragmatic approach by drawing upon many insights of Loayza and Raddatz (2007) who study the structural determinants of external vulnerability.Practical implications– Developing countries in general and LDCs in particular could address their structural weaknesses by making optimal use of their trade policies. In particular, they could better use the flexibilities available to them in provisions of the World Trade Organization (WTO)’ Agreements. In this respect, the international community, notably donors of the developed world has a key role to play.Originality/value– This is the first study exploring how trade openness, capturing here through trade policy liberalization affects the structural vulnerability of developing countries.
Can Black Africa afford to be Green Africa?
Authors: Price Gregory N. , Elu Juliet U. 
Published: December 2015

Purpose– The purpose of this paper is to use a neoclassical factor pricing approach to carbon emissions, and consider whether the productivity of carbon emissions differs in Sub-Saharan Africa relative to the rest of the world.Design/methodology/approach– Allowing for possible cross-country dependency and correlation in the effects of the factors of production on the level of gross domestic product per capita, the authors estimate the parameters of a cross-country net production function with carbon emissions as an input.Findings– While there is a “Sub-Saharan Africa effect” whereby carbon emissions are less productive as an input relative to the rest of the world; practically it is equally productive relative to all other countries suggesting a unfavorable distributional impact if Sub-Saharan Africa were to implement carbon emissions reductions consistent with the Kyoto Protocol.Research limitations/implications– If global warming is not anthropogenic or caused by carbon emissions, the parameter estimates do not inform an optimal and equitable carbon emissions policy based upon Sub-Saharan Africans reducing their short-run living standards.Practical implications– Fair and equitable global carbon emissions policies should aim to treat Sub-Saharan African countries in proportion to their carbon emissions, and not unfairly impose emissions constraints on them equal to that of countries in the industrialized west.Social implications– As Sub-Saharan Africa has a disproportionate number of individuals in the world living on less than one dollar a day, the results suggest “Black Africa” may not be able to afford being a “Green Africa.”Originality/value– The results are the first to quantify the effects of carbon emissions restrictions on output and their distributional implications for Sub-Saharan Africa.
The dynamic response of the rand real exchange rate to fundamental shocks
Authors: Balcilar Mehmet , Gupta Rangan , Jooste Charl 
Published: December 2015

Purpose
– The authors analyse the relationship between the South African real exchange rate and economic fundamentals – demand, supply and nominal shocks. The paper aims to discuss these issues.

Design/methodology/approach
– The authors use a time-varying parameter VAR to study the coherence, conditional volatility and impulse responses of the exchange rate over specific periods and policy regimes. The model is identified using sign-restrictions that allow for some neutrality of impulse responses over contemporaneous and long horizons.

Findings
– The results suggest that the importance of fundamental shocks on the exchange rate is time dependent. Hence there is a loss in information when using standard linear models that average out effects over time. The response of the exchange rate to demand and supply shocks have weakened over the 1994-2010 period.

Research limitations/implications
– The period following financial crisis has strengthened the relationship between supply and demand shocks to the exchange rate, but has weakened the relationship between interest rate shocks and the exchange rate response.

Practical implications
– This paper provides deeper insight as to how the exchange rate responds to fundamental shocks. This should help monetary policy understand the consequences of interest rate decisions on the exchange rate and the indirect effect of inflation on the exchange rate.

Originality/value
– This application is new to the South African literature. The authors propose that the use of interest rates is limited in affecting the value of the rand exchange rate over particular periods. Isolating fundamental shocks to exchange rates over time helps policy makers make clearer and more informed decisions.
Relationship between spicy food intake and chronic uninvestigated dyspepsia in Iranian adults
Authors: Saneei Parvane , Sadeghi Omid , Feizi Awat , Keshteli Ammar Hassanzadeh , Daghaghzadeh Hamed , Esmaillzadeh Ahmad , Adibi Peyman 
Published: December 2015

ObjectiveTo assess the association between spicy food consumption and chronic uninvestigated dyspepsia (CUD) in a large sample of Iranian adults.MethodsIn this cross‐sectional study we assessed the consumption of spicy foods in 4763 Iranian adults living in Isfahan Province using a dietary habit questionnaire. A modified validated version of the Rome III questionnaire was used to assess CUD‐related symptoms. CUD was defined as having one or more of the following characteristics: distressing postprandial fullness, early satiation and/or epigastric pain or epigastric burning at least often during the past three months. Information on meal regularity, meal frequency, intra‐meal intake of fluid as well as other potential confounders was also collected.ResultsCUD was prevalent in 15% of the participants. The frequent consumption of spicy foods (≥10 times/week) was associated with greater odds of having CUD [odds ratio (OR) 1.64, 95% confidence interval (CI) 1.09–2.49, P < 0.05). This relationship was significant even after adjusted for diet‐related practices (OR 1.68, 95% CI 1.01–2.79, P < 0.05). There was a significantly positive association between spicy food consumption and postprandial fullness (OR 1.76, 95% CI 1.29–2.40, P < 0.05) and epigastric pain (OR 1.78, 95% CI 1.30–2.44, P < 0.05). However, no significant relationship was observed between the frequent consumption of spicy foods and early satiation.ConclusionsHigh consumption of spicy foods is associated with greater odds of CUD, frequent postprandial fullness and epigastric pain. Further studies, particularly of a prospective nature, are needed to confirm our findings.
Ammonia threshold for inhibition of anaerobic digestion of thin stillage and the importance of organic loading rate
Authors: Moestedt Jan , Müller Bettina , Westerholm Maria , Schnürer Anna 
Published: December 2015

SummaryBiogas production from nitrogen‐rich feedstock results in release of ammonia (NH3), causing inhibition of the microbial process. The reported threshold ammonia value for stable biogas production varies greatly between studies, probably because of differences in operating conditions. Moreover, it is often difficult to separate the effect of ammonia inhibition from that of organic loading rate (OLR), as these two factors are often interrelated. This study attempted to distinguish the effects of ammonia and OLR by analysis of two laboratory‐scale biogas reactors operating with thin stillage and subjected to an increase in free ammonia (from 0.30 to 1.1 g L−1) either by addition of an external nitrogen source (urea) or by increasing the OLR (3.2–6.0 g volatile solids L−1 d−1). The results showed that ammonia concentration was detrimental for process performance, with the threshold for stability in both processes identified as being about 1 g NH3‐N L−1, irrespective of OLR. Analysis of the methanogenic community showed limited differences between the two reactors on order level and a clear increase in the abundance of Methanomicrobiales, particularly Methanoculleus sp., in response to increasing ammonia concentration. Further comprehensive molecular analysis revealed that diverse Methanoculleus species dominated in the reactors at a given ammonia level at different OLR. The acetogenic community was clearly affected by both ammonia concentration and OLR, suggesting that the volatile fatty acid load in relation to the higher OLR was important for the dynamics of this community.
Making environmental DNA count
Authors: Kelly Ryan P. 
Published: December 2015

The arc of reception for a new technology or method – like the reception of new information itself – can pass through predictable stages, with audiences’ responses evolving from ‘I don't believe it’, through ‘well, maybe’ to ‘yes, everyone knows that’ to, finally, ‘old news’. The idea that one can sample a volume of water, sequence DNA out of it, and report what species are living nearby has experienced roughly this series of responses among biologists, beginning with the microbial biologists who developed genetic techniques to reveal the unseen microbiome. ‘Macrobial’ biologists and ecologists – those accustomed to dealing with species they can see and count – have been slower to adopt such molecular survey techniques, in part because of the uncertain relationship between the number of recovered DNA sequences and the abundance of whole organisms in the sampled environment. In this issue of Molecular Ecology Resources, Evans et al. () quantify this relationship for a suite of nine vertebrate species consisting of eight fish and one amphibian. Having detected all of the species present with a molecular toolbox of six primer sets, they consistently find DNA abundances are associated with species’ biomasses. The strength and slope of this association vary for each species and each primer set – further evidence that there is no universal parameter linking recovered DNA to species abundance – but Evans and colleagues take a significant step towards being able to answer the next question audiences tend to ask: ‘Yes, but how many are there?’
Don't throw the baby out with the bathwater: identifying and mapping paralogs in salmonids
Authors: Dufresne France 
Published: December 2015

Many eukaryotic genomes contain a large fraction of gene duplicates (or paralogs) as a result of ancient or recent whole‐genome duplications (Ohno ; Jaillon et al. ; Kellis et al. ). Identifying paralogs with NGS data is a pervasive problem in both ancient polyploids and neopolyploids. Likewise, paralogs are often treated as a nuisance that has to be detected and removed (Everett et al. ). In this issue of Molecular Ecology Resources, Waples et al. () show that exclusion might not be necessary and how we may miss out on important genomic information in doing so. They present a novel statistical approach to detect paralogs based on the segregation of RAD loci in haploid offspring and test their method by constructing linkage maps with and without these duplicated loci in chum salmon, Oncorhynchus keta (Fig. ). Their linkage map including the resolved paralogs shows that these are mostly located in the distal regions of several linkage groups. Particularly intriguing is their finding that these homoeologous regions appear impoverished in transposable elements (TE). Given the role that TE play in genome remodelling, it is noteworthy that these elements are of low abundance in regions showing residual tetrasomic inheritance. This raises the question whether re‐diploidization is constrained in these regions and whether they might have a role to play in salmonid speciation. This study provides an original approach to identifying duplicated loci in species with a pedigree, as well as providing a dense linkage map for chum salmon, and interesting insights into the retention of gene duplicates in an ancient polyploid.
The influence of propofol and sevoflurane on intestinal motility during laparoscopic surgery
Authors: Desmet M. , Vander Cruyssen P. , Pottel H. , Carlier S. , Devriendt D. , Van Rooy F. , De Corte W. 
Published: December 2015

BackgroundVolatile anaesthetics have an influence on small bowel peristalsis during laparoscopic surgery. A recent study concluded that desflurane increased intestinal motility compared to sevoflurane. Hence, a desflurane‐based anaesthesia protocol may reduce surgical exposure during intestinal suturing or stapling due to small bowel hyperperistalsis. The effect of propofol on intestinal motility is not well studied. We tested the hypothesis that a propofol–remifentanil anaesthesia increases intestinal contractions in comparison with a sevoflurane–remifentanil anaesthesia.MethodsPatients scheduled for laparoscopic gastric bypass surgery were randomized in this single blind randomized controlled trial to receive remifentanil combined with sevoflurane or propofol (ISRCTN 12921661). Bispectral index monitoring was used to guide depth of anaesthesia. Visual observation of peristaltic waves was performed during 1 min at the planned site of the jejunostomy. Statistical analysis was performed using Wilcoxon two‐sample test.ResultsAfter obtaining written informed consent 50 patients were included. Groups were similar for demographic variables, and depth of anaesthesia during the observations. The median number of peristaltic waves was lower in the sevoflurane–remifentanil group compared to the propofol–remifentanil group (0 vs. 6, P < 0.001).ConclusionPropofol–remifentanil increases intestinal motility compared with sevoflurane–remifentanil during laparoscopic gastric bypass surgery. A sevoflurane‐based protocol can help to avoid disturbing peristalsis.