bluuebunny/crossref_metadata_2025_split huggingface dataset:
Inborn errors of pyrimidine metabolism: clinical update and therapy
Authors: Balasubramaniam Shanti , Duley John A. , Christodoulou John 
Published: July 2014

AbstractInborn errors involving enzymes essential for pyrimidine nucleotide metabolism have provided new insights into their fundamental physiological roles as vital constituents of nucleic acids as well as substrates of lipid and carbohydrate metabolism and in oxidative phosphorylation. Genetic aberrations of pyrimidine pathways lead to diverse clinical manifestations including neurological, immunological, haematological, renal impairments, adverse reactions to analogue therapy and association with malignancies. Maintenance of cellular nucleotides depends on the three aspects of metabolism of pyrimidines: de novo synthesis, catabolism and recycling of these metabolites. Of the ten recognised disorders of pyrimidine metabolism treatment is currently restricted to only two disorders: hereditary orotic aciduria (oral uridine therapy) and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE; allogeneic hematopoetic stem cell transplant and enzyme replacement). The ubiquitous role that pyrimidine metabolism plays in human life highlights the importance of improving diagnostic evaluation in suggestive clinical settings, which will contribute to the elucidation of new defects, future development of novel drugs and therapeutic strategies. Limited awareness of the expanding phenotypic spectrum, with relatively recent descriptions of newer disorders, compounded by considerable genetic heterogeneity has often contributed to the delays in the diagnosis of this group of disorders. The lack of an easily recognisable, easily measurable end product, akin to uric acid in purine metabolism, has contributed to the under‐recognition of these disorders.This review describes the currently known inborn errors of pyrimidine metabolism, their variable phenotypic presentations, established diagnostic methodology and recognised treatment options.
Establishing a baseline to measure change in political will and the use of data for decision‐making in maternal and newborn health in six African countries
Authors: Nove Andrea , Hulton Louise , Martin‐Hilber Adriane , Matthews Zoe 
Published: July 2014

AbstractThe Evidence for Action (E4A) program assumes that both resource allocation and quality of care can improve via a strategy that combines evidence and advocacy to stimulate accountability. The present paper explains the methods used to collect baseline monitoring data using two tools developed to inform program design in six focus countries. The first tool is designed to understand the extent to which decision‐makers have access to the data they need, when they need it, and in meaningful formats, and then to use the data to prioritize, plan, and allocate resources. The second tool seeks the views of people working in the area of maternal and newborn health (MNH) about political will, including: quality of care, the political and financial priority accorded to MNH, and the extent to which MNH decision‐makers are accountable to service users. Findings indicate significant potential to improve access to and use of data for decision‐making, particularly at subnational levels. Respondents across all six program countries reported lack of access by ordinary citizens to information on the health and MNH budget, and data on MNH outcomes. In all six countries there was a perceived inequity in the distribution of resources and a perception that politicians do not fully understand the priorities of their constituents.
Evangelical Conversion and the Transformation of the Self in Amazonia and Melanesia: Christianity and the Revival of Anthropological Comparison
Authors: Robbins Joel , Schieffelin Bambi B. , Vilaça Aparecida 
Published: July 2014

AbstractThe last several decades have seen both a renewed anthropological interest in the possibility of cross-cultural comparison and the rapid rise of the anthropology of Christianity. These two trends should be mutually supportive. One of the promises of the anthropology of Christianity from the outset has been that it will allow people to compare how processes of Christianization have unfolded in different parts of the world and to consider how the resulting Christian configurations are similar to and different from one another. But to this point, relatively little detailed comparative empirical work on Christianity has appeared. Our aim here is to contribute to remedying this situation. Drawing on recent theoretical work on comparison, we set comparative work on Christianity on a new footing. Empirically, we examine how processes of Evangelical Christianization have transformed notions of the self in one Amazonian society (Wari') and two unrelated societies in Melanesia (Bosavi and Urapmin). We define the self for comparative purposes as composed of ideas of the mind or inner self, the body, and relations between people. In our three cases, Christianization has radically transformed these ideas, emphasizing the inner self and downplaying the importance of the body and of social relations. While our empirical conclusions are not wholly unexpected, the extent to which the details of our three cases speak comparatively to one another, and the extent to which the broad processes of Christian transformation they involve are similar, are surprising and lay a promising foundation for future comparative work in the anthropology of Christianity.
Productive Intolerance: Godly Nationalism in Indonesia
Authors: Menchik Jeremy 
Published: July 2014

AbstractSince democratization, Indonesia has played host to a curious form of ethnic conflict: militant vigilante groups attacking a small, socially marginal religious sect called Ahmadiyah. While most scholars attribute the violence to intolerance by radicals on the periphery of society, this article proposes a different reading based on an intertwined reconfiguration of Indonesian nationalism and religion. I suggest that Indonesia contains a common but overlooked example of “godly nationalism,” an imagined community bound by a shared theism and mobilized through the state in cooperation with religious organizations. This model for nationalism is modern, plural, and predicated on the exclusion of religious heterodoxy. Newly collected archival and ethnographic material reveal how the state's and Muslim civil society's long-standing exclusion of Ahmadiyah and other heterodox groups has helped produce the “we-feeling” that helps constitute contemporary Indonesian nationalism. I conclude by intervening in a recent debate about religious freedom to suggest that conflicts over blasphemy reflect Muslim civil society's effort to delineate an incipient model of nationalism and tolerance while avoiding the templates of liberal secularism or theocracy.
Memories of Violence, Cultural Transformations of Cannibals, and Indigenous State-Building in Post-Conflict Mozambique
Authors: Igreja Victor 
Published: July 2014

AbstractThis article explores how accusations of cannibalism in post-conflict Mozambique, which were leveled in the context of individually driven and protracted struggles, albeit with cultural spinoffs, have contributed to ongoing and contested forms of social transformation in the country. The accusations were accentuated by the mobilizing effects of memories of violence and interventions of the mass media, which in turn highlighted the enduring struggle over the politics of local recognition and authority and its dynamic and broader links to state-building and legitimacy in Mozambique. This analysis traces the origins of cannibal accusations in culture and politics and, through a discussion of the biographies of concrete social actors and their open and discreet struggles, has wider repercussions for the study of the role of indigenous beliefs about, and fears of, cannibals and witches on state-building in post-conflict countries.
Development of interspecific and intergeneric hybrids among jatropha-related species and verification of the hybrids using EST–SSR markers
Authors: Laosatit Kularb , Tanya Patcharin , Muakrong Narathid , Srinives Peerasak 
Published: July 2014

Jatropha curcas (jatropha) is an important non-edible oilseed crop with potential as a raw material for biofuel production. Although J. curcas has 30–35% oil content in its seeds, it has low seed yield ( < 2 ton/ha) and thus cannot become an economically viable crop. However, jatropha has many related species and genera such as J. integerrima, J. multifida, J. podagrica and Ricinus communis that are suitable for interspecific and intergeneric hybridization. The desirable features that can be obtained from these species are high number of inflorescences from J.integerrima, large fruit size from J. multifida, high oil content from J. podagrica and raceme-type inflorescence from R. communis. We were initially successful in producing hybrids between J. curcas and these related species. Hybridity was confirmed using expressed sequence tag (EST)–simple sequence repeat markers developed from the J. curcas EST database.
Correction of the misclassification of species in the Portuguese collection of Cucurbita pepo L. using DNA markers
Authors: Rodrigues Ricardo , Veiga Iris , Marreiros António , Rocha Filomena , Leitão José 
Published: July 2014

In this study, the genetic variability among 130 accessions of the Portuguese germplasm collection of Cucurbita pepo L. maintained at the Banco Português de Germoplasma Vegetal was assessed using AFLP (amplified fragment length polymorphism) and RAPD (random amplified polymorphic DNA) techniques for the identification of a genetically diverse core group of accessions for field phenotypic analysis. The surprisingly completely different molecular patterns exhibited by multiple accessions was later confirmed in the distribution of the putative C. pepo plants into two clusters drastically separated at a very low level of genetic similarity (DICE coefficient = 0.37). Additional analyses with RAPD and ISSR (inter single sequence repeat) markers and the introduction of standard genotypes of C. maxima L. and C. moschata L. into the analyses allowed the identification of multiple accessions of the last species wrongly included in the C. pepo collection. This study is a good example of the usefulness of DNA markers in the establishment and management of plant germplasm collections.
The legal framework applicable to insecurity and violence affecting the delivery of health care in armed conflicts and other emergencies
Authors: Breitegger Alexander 
Published: July 2014

AbstractEnsuring respect for, and protection of, the wounded and sick and delivery of health care to them were at the origin of the Red Cross and Red Crescent Movement, as well as the development of international humanitarian law (IHL). In today's armed conflicts and other emergencies, the problem is not the lack of existing international rules but the implementation of relevant IHL and international human rights law (IHRL) which form a complementary framework governing this issue. Against the backdrop of the different manifestations of violence observed by the ICRC in the field and expert consultations held in the framework of the Health Care in Danger Project, this article identifies commonalities between the two legal regimes, including with respect to obligations to provide and facilitate impartial health care; prohibitions of attacks against wounded and sick and health-care providers; prohibitions to arbitrarily obstruct access to health care; prohibitions to harass health-care personnel, in violation of medical ethics; or positive obligations to ensure essential medical supplies and health-care infrastructure and protect health-care providers against violent interferences by others. The article concludes by indicating certain areas where implementation of existing IHL and IHRL is needed, including in domestic normative frameworks, military doctrine and practice, as well as training of health-care personnel on these international legal frameworks and medical ethics.
Pharmacometabolomics Reveals That Serotonin Is Implicated in Aspirin Response Variability
Authors: Ellero‐Simatos S , Lewis JP , Georgiades A , Yerges‐Armstrong LM , Beitelshees AL , Horenstein RB , Dane A , Harms AC , Ramaker R , Vreeken RJ , Perry CG , Zhu H , Sànchez CL , Kuhn C , Ortel TL , Shuldiner AR , Hankemeier T , Kaddurah‐Daouk R 
Published: July 2014

While aspirin is generally effective for prevention of cardiovascular disease, considerable variation in drug response exists, resulting in some individuals displaying high on‐treatment platelet reactivity. We used pharmacometabolomics to define pathways implicated in variation of response to treatment. We profiled serum samples from healthy subjects pre‐ and postaspirin (14 days, 81 mg/day) using mass spectrometry. We established a strong signature of aspirin exposure independent of response (15/34 metabolites changed). In our discovery (N = 80) and replication (N = 125) cohorts, higher serotonin levels pre‐ and postaspirin correlated with high, postaspirin, collagen‐induced platelet aggregation. In a third cohort, platelets from subjects with the highest levels of serotonin preaspirin retained higher reactivity after incubation with aspirin than platelets from subjects with the lowest serotonin levels preaspirin (72 ± 8 vs. 61 ± 11%, P = 0.02, N = 20). Finally, ex vivo, serotonin strongly increased platelet reactivity after platelet incubation with aspirin (+20%, P = 4.9 × 10−4, N = 12). These results suggest that serotonin is implicated in aspirin response variability.CPT Pharmacometrics Syst. Pharmacol. (2014) 3, e125; doi:10.1038/psp.2014.22; published online 16 July 2014
Relationships Between Vocalization Forms and Functions in Infancy: Preliminary Implications for Early Communicative Assessment and Intervention
Authors: Iyer Suneeti Nathani , Ertmer David J. 
Published: July 2014

Purpose
This preliminary study explored relationships between form and function in prelinguistic vocalizations to increase our understanding of early communicative development and to provide potential clinical implications for early communicative assessment and intervention.

Method
Twenty typically developing infants—5 infants in each of 4 age groups, from 3 to 20 months of age—were included. Vocalizations from these infants had previously been categorized for their form (Nathani, Ertmer, & Stark, 2006) and function (Stark, Bernstein, & Demorest, 1993) characteristics. In the present study, cross-classification tabulations between form and function were conducted to examine relationships between vocalization types and their apparent uses.

Results
As anticipated, earlier developing forms were mostly associated with earlier developing functions, and later developing forms were mostly associated with later developing functions. However, there were some exceptions such that some forms were associated with a variety of functions, and vice versa.

Conclusions
The results suggest that some forms are more tightly coupled to function than others in the prelinguistic and early linguistic period. Preliminary implications for developmental theory, future research, and clinical applications are discussed. Larger, longitudinal studies with typical and atypical populations and stricter methodological controls are needed to validate these findings.
Model‐predictive direct power control of doubly‐fed induction generators under unbalanced grid voltage conditions in wind energy applications
Authors: Hu Jiefeng , Zhu Jianguo , Dorrell David G. 
Published: July 2014

Unbalanced grid voltage conditions in wind farms degrade the performance of the wind turbines and inject severely distorted current into the power system. This study proposes a new model‐predictive direct power control strategy for a doubly‐fed induction generator (DFIG) under unbalanced grid voltage conditions. An optimised cost function is derived in order to select an appropriate voltage vector. This directly regulates the instantaneous active and reactive powers in the stationary stator reference frame without the requirement for coordinate transformation, proportional–integral regulators, switching table or pulse‐width modulation modulators. After that, the behaviour of the DFIGs under unbalanced grid voltage is investigated. A power compensation scheme is developed, which does not require the extraction of the negative stator current sequence. This can achieve several different control objectives; that is, obtaining sinusoidal and symmetrical stator currents, and the cancellation of electromagnetic torque oscillations. The effectiveness of the proposed control strategy is validated experimentally on a 20 kW laboratory DFIG prototype.
Strategies to maintain skeletal muscle mass in the injured athlete: Nutritional considerations and exercise mimetics
Authors: Wall Benjamin T. , Morton James P. , van Loon Luc J. C. 
Published: July 2014

AbstractThe recovery from many injuries sustained in athletic training or competition often requires an extensive period of limb immobilisation (muscle disuse). Such periods induce skeletal muscle loss and consequent declines in metabolic health and functional capacity, particularly during the early stages (1–2 weeks) of muscle disuse. The extent of muscle loss during injury strongly influences the level and duration of rehabilitation required. Currently, however, efforts to intervene and attenuate muscle loss during the initial two weeks of injury are minimal. Mechanistically, muscle disuse atrophy is primarily attributed to a decline in basal muscle protein synthesis rate and the development of anabolic resistance to food intake. Dietary protein consumption is of critical importance for stimulating muscle protein synthesis rates throughout the day. Given that the injured athlete greatly reduces physical activity levels, maintaining muscle mass whilst simultaneously avoiding gains in fat mass can become challenging. Nevertheless, evidence suggests that maintaining or increasing daily protein intake by focusing upon the amount, type and timing of dietary protein ingestion throughout the day can restrict the loss of muscle mass and strength during recovery from injury. Moreover, neuromuscular electrical stimulation may be applied to evoke involuntary muscle contractions and support muscle mass maintenance in the injured athlete. Although more applied work is required to translate laboratory findings directly to the injured athlete, current recommendations for practitioners aiming to limit the loss of muscle mass and/or strength following injury in their athletes are outlined herein.
Automatic labelling of transitivity functional roles
Authors: Yan Hengbin 
Published: July 2014

Abstract
Systemic functional linguistics (SFL) is a functionally oriented linguistic framework that has gained increasing influence in recent years, with important applications in the description and analysis of text/discourse. Despite its popularity, relatively little has been done to automate the parsing of functional structures using this framework. Previous attempts have largely depended on non-statistical, rule-based methods, which have limited their application in more complex scenarios. In this article, we present a data-driven method for the classification and labelling of SFL-based functional roles, trained on a recently developed corpus resource. We describe our efforts to engineer lexical, semantic and contextual features in constructing a system for labelling the process types and participant roles in the transitivity system based on the SFL framework. Initial evaluation shows accuracies of 80.5% and 91.8% for the classification of process types and participant roles, respectively. The system is expected to be an important step in achieving fully automated analysis of functional roles in SFL. In addition to applications requiring analysis of English functional structure, we discuss some of the difficulties and future directions in extending the current system to handle less other languages such as Chinese.
Gustaf: Detecting and correctly classifying SVs in the NGS twilight zone
Authors: Trappe Kathrin , Emde Anne-Katrin , Ehrlich Hans-Christian , Reinert Knut 
Published: July 2014

Abstract
Motivation: The landscape of structural variation (SV) including complex duplication and translocation patterns is far from resolved. SV detection tools usually exhibit low agreement, are often geared toward certain types or size ranges of variation and struggle to correctly classify the type and exact size of SVs.
Results: We present Gustaf (Generic mUlti-SpliT Alignment Finder), a sound generic multi-split SV detection tool that detects and classifies deletions, inversions, dispersed duplications and translocations of ≥30 bp. Our approach is based on a generic multi-split alignment strategy that can identify SV breakpoints with base pair resolution. We show that Gustaf correctly identifies SVs, especially in the range from 30 to 100 bp, which we call the next-generation sequencing (NGS) twilight zone of SVs, as well as larger SVs &gt;500 bp. Gustaf performs better than similar tools in our benchmark and is furthermore able to correctly identify size and location of dispersed duplications and translocations, which otherwise might be wrongly classified, for example, as large deletions.
Availability and implementation: Project information, paper benchmark and source code are available via http://www.seqan.de/projects/gustaf/ .
Contact: kathrin.trappe@fu-berlin.de
AffyPipe: an open-source pipeline for Affymetrix Axiom genotyping workflow
Authors: Nicolazzi Ezequiel L. , Iamartino Daniela , Williams John L. 
Published: July 2014

Abstract
The Affymetrix Axiom genotyping standard and ‘best practice’ workflow for Linux and Mac users consists of three stand-alone executable programs (Affymetrix Power Tools) and an R package (SNPolisher). Currently, SNP analysis has to be performed in a step-by-step procedure. Manual intervention and/or programming skills by the user is required at each intermediate point, as Affymetrix Power Tools programs do not produce input files for the program next-in-line. An additional problem is that the output format of genotypes is not compatible with most analysis software currently available. AffyPipe solves all the above problems, by automating both standard and ‘best practice’ workflows for any species genotyped with the Axiom technology. AffyPipe does not require programming skills and performs all the steps necessary to obtain a final genotype file. Furthermore, users can directly edit SNP probes and export genotypes in PLINK format.
Availability and implementation:   https://github.com/nicolazzie/AffyPipe.git .
Contact: ezequiel.nicolazzi@tecnoparco.org