bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital erythropoietic porphyria linked to GATA1‐R216W mutation: challenges for diagnosis
Authors: Di Pierro Elena , Russo Roberta , Karakas Zeynep , Brancaleoni Valentina , Gambale Antonella , Kurt Ismail , Winter S. Stuart , Granata Francesca , Czuchlewski David Rodriguez , Langella Concetta , Iolascon Achille , Cappellini Maria Domenica 
Published: September 2014

AbstractCongenital erythropoietic porphyria (CEP) is a rare genetic disease that is characterized by a severe cutaneous photosensitivity causing unrecoverable deformities, chronic hemolytic anemia requiring blood transfusion program, and by fatal systemic complications. A correct and early diagnosis is required to develop a management plan that is appropriate to the patient's needs. Recently only one case of X‐linked CEP had been reported, describing the trans‐acting GATA1‐R216W mutation. Here, we have characterized two novel X‐linked CEP patients, both with misleading hematological phenotypes that include dyserythropoietic anemia, thrombocytopenia, and hereditary persistence of fetal hemoglobin. We compare the previously reported case to ours and propose a diagnostic paradigm for this variant of CEP. Finally, a correlation between phenotype variability and the presence of modifier mutations in loci related to disease‐causing gene is described.
Sensitivity analysis of coexistence in ecological communities: theory and application
Authors: Barabás György , Pásztor Liz , Meszéna Géza , Ostling Annette 
Published: September 2014

AbstractSensitivity analysis, the study of how ecological variables of interest respond to changes in external conditions, is a theoretically well‐developed and widely applied approach in population ecology. Though the application of sensitivity analysis to predicting the response of species‐rich communities to disturbances also has a long history, derivation of a mathematical framework for understanding the factors leading to robust coexistence has only been a recent undertaking. Here we suggest that this development opens up a new perspective, providing advances ranging from the applied to the theoretical. First, it yields a framework to be applied in specific cases for assessing the extinction risk of community modules in the face of environmental change. Second, it can be used to determine trait combinations allowing for coexistence that is robust to environmental variation, and limits to diversity in the presence of environmental variation, for specific community types. Third, it offers general insights into the nature of communities that are robust to environmental variation. We apply recent community‐level extensions of mathematical sensitivity analysis to example models for illustration. We discuss the advantages and limitations of the method, and some of the empirical questions the theoretical framework could help answer.
Habitat structure and the evolution of diffusible siderophores in bacteria
Authors: Kümmerli Rolf , Schiessl Konstanze T. , Waldvogel Tuija , McNeill Kristopher , Ackermann Martin 
Published: September 2014

AbstractBacteria typically rely on secreted metabolites, potentially shareable at the community level, to scavenge resources from the environment. The evolution of diffusible, shareable metabolites is, however, difficult to explain because molecules can get lost, or be exploited by cheating mutants. A key question is whether natural selection can act on molecule structure to control loss and shareability. We tested this possibility by collating information on diffusivity properties of 189 secreted iron‐scavenging siderophores and the natural habitats occupied by the siderophore‐producing species. In line with evolutionary theory, we found that highly diffusible siderophores have preferentially evolved in species living in structured habitats, such as soil and hosts, because structuring can keep producers and their shareable goods together. Poorly diffusible siderophores, meanwhile, have preferentially evolved in species living in unstructured habitats, such as seawater, indicating that these metabolites are less shareable and more likely provide direct benefits to the producers.
Cerebral cortex involvement in Machado−Joseph disease
Authors: de Rezende T. J. R. , D'Abreu A. , Guimarães R. P. , Lopes T. M. , Lopes‐Cendes I. , Cendes F. , Castellano G. , França M. C. 
Published: September 2014

Background and purposeMachado−Joseph disease (MJD/SCA3) is the most frequent spinocerebellar ataxia, characterized by brainstem, basal ganglia and cerebellar damage. Few magnetic resonance imaging based studies have investigated damage in the cerebral cortex. The objective was to determine whether patients with MJD/SCA3 have cerebral cortex atrophy, to identify regions more susceptible to damage and to look for the clinical and neuropsychological correlates of such lesions.MethodsForty‐nine patients with MJD/SCA3 (mean age 47.7 ± 13.0 years, 27 men) and 49 matched healthy controls were enrolled. All subjects underwent magnetic resonance imaging scans in a 3 T device, and three‐dimensional T1 images were used for volumetric analyses. Measurement of cortical thickness and volume was performed using the FreeSurfer software. Groups were compared using ancova with age, gender and estimated intracranial volume as covariates, and a general linear model was used to assess correlations between atrophy and clinical variables.ResultsMean CAG expansion, Scale for Assessment and Rating of Ataxia (SARA) score and age at onset were 72.1 ± 4.2, 14.7 ± 7.3 and 37.5 ± 12.5 years, respectively. The main findings were (i) bilateral paracentral cortex atrophy, as well as the caudal middle frontal gyrus, superior and transverse temporal gyri, and lateral occipital cortex in the left hemisphere and supramarginal gyrus in the right hemisphere; (ii) volumetric reduction of basal ganglia and hippocampi; (iii) a significant correlation between SARA and brainstem and precentral gyrus atrophy. Furthermore, some of the affected cortical regions showed significant correlations with neuropsychological data.ConclusionsPatients with MJD/SCA3 have widespread cortical and subcortical atrophy. These structural findings correlate with clinical manifestations of the disease, which support the concept that cognitive/motor impairment and cerebral damage are related in disease.
Genes predict long distance migration and large body size in a migratory fish, Pacific lamprey
Authors: Hess Jon E. , Caudill Christopher C. , Keefer Matthew L. , McIlraith Brian J. , Moser Mary L. , Narum Shawn R. 
Published: September 2014

AbstractElucidation of genetic mechanisms underpinning migratory behavior could help predict how changes in genetic diversity may affect future spatiotemporal distribution of a migratory species. This ability would benefit conservation of one such declining species, anadromous Pacific lamprey (Entosphenus tridentatus). Nonphilopatric migration of adult Pacific lamprey has homogenized population‐level neutral variation but has maintained adaptive variation that differentiates groups based on geography, run‐timing and adult body form. To investigate causes for this adaptive divergence, we examined 647 adult lamprey sampled at a fixed location on the Columbia River and radiotracked during their subsequent upstream migration. We tested whether genetic variation [94 neutral and adaptive single nucleotide polymorphisms (SNPs) previously identified from a genomewide association study] was associated with phenotypes of migration distance, migration timing, or morphology. Three adaptive markers were strongly associated with morphology, and one marker also correlated with upstream migration distance and timing. Genes physically linked with these markers plausibly influence differences in body size, which is also consistently associated with migration distance in Pacific lamprey. Pacific lamprey conservation implications include the potential to predict an individual's upstream destination based on its genotype. More broadly, the results suggest a genetic basis for intrapopulation variation in migration distance in migratory species.
Equine post operative ileus: A review of current thinking on pathophysiology and management
Authors: Hudson N. P. H. , Pirie R. S. 
Published: September 2014

SummaryEquine post operative ileus (POI) is a serious post surgical complication in the horse, with a significant fatality rate. Despite the ongoing debate with regard to both the clinical definition of equinePOIand the optimal management of this condition, there is increasing awareness and acceptance, supported by scientific research, that inflammation plays a key role in its pathophysiology. This review aims to outline the current thinking on the pathophysiology and management of this condition, with reference to the published literature on equine, rodent and humanPOI. Although studies conducted in other species are likely to provide an abundant source of information with potentially useful translational applications for the equine condition, such an approach needs to be cognisant of potential interspecies differences both in the pathogenesis of the condition and in basic gastrointestinal physiology.
Investigation of the response of an aluminium plate subjected to repeated low velocity impact using a continuum damage mechanics approach
Authors: Ghajar R. , Khalili S. M. R. , Yarmohammad Tooski M. , Alderliesten R. C. 
Published: September 2014

AbstractExperimental investigation of repeated impacts on aluminium plates is performed using drop weights impacting from either constant or variable heights. In repeated impacts of constant and variable heights, the effect of plasticity is noticeable on the specimens in the very first impact. The effect of strain hardening is observed at higher impact numbers. Stiffness of plates is decreased by initiation and propagation of cracks in the specimens. Finally, perforation and penetration occur at the ultimate consecutive impacts. Numerical simulations of repeated impacts are also conducted using continuum damage mechanics by Abaqus software. Lemaitre's model is used as the damage model, and the code is written in Vumat subroutine. The effect of initial uniaxial and biaxial tensile stress on the plates is considered in repeated impacts, and it is concluded that plates with initial tensile uniaxial stress at transverse edges have maximum values of contact force and absorbed energy.
Can biological traits of stream invertebrates help disentangle the effects of multiple stressors in an agricultural catchment?
Authors: Lange Katharina , Townsend Colin R. , Matthaei Christoph D. 
Published: September 2014

SummaryBiological traits, which may give insights into the mechanisms driving the distribution of organisms along gradients of stressor intensities, have been proposed as a tool for disentangling the effects of multiple stressors acting simultaneously on scales ranging from climatic region to river basins, valleys, reaches and microhabitats. However, the combined effects of farming intensity and flow reduction on biological traits of stream invertebrates remain to be studied.We assessed the benthic invertebrate community and physicochemistry at 43 stream sites along gradients of farming intensity (0–95% of the catchment in intensively managed grassland) and water abstraction (0–92% streamflow reduction). Using general linear models and an information‐theoretic approach, we studied individual and combined effects of agricultural stressors on invertebrate traits and community composition.Traits often followed predictable patterns along stressor gradients, and non‐additive interactions between paired stressors were common. Farming intensity was more frequently related to life‐history, resistance and resilience traits, whereas water abstraction was correlated more often with general biological traits such as feeding habits, dietary preference and respiration. Further, traits and traditional measures of community structure, such as taxon relative abundances and community indices, offered a similar level of distinction along the gradients of stressor intensities.Our findings indicate that invertebrate traits can differentiate the effects of multiple stressors and provide insights into potential mechanisms. At the landscape scale, farming intensity exerted stronger effects via invertebrate habitat quality and water abstraction via food availability. At the reach scale, both fine sediment and nutrients affected habitat quality, whereas nutrients showed more marked effects via food availability. Finally, we propose a suite of traits that may provide the strongest differentiation of stressor intensities.
Niche expansion in a resilient endemic species following introduction of a novel top predator
Authors: Sharpe Diana M. T. , Chapman Lauren J. 
Published: September 2014

Summary

Introduced species can have profound direct ecological impacts on native species, yet their potential indirect effects remain relatively unexplored. For instance, introduced predators may directly affect some native species via predation, which may in turn have indirect consequences for other species that are released from competition.

We explore this possibility in East Africa's Lake Victoria basin, where the introduction of the predatory Nile perch, Lates niloticus, in the 1950s and 60s contributed to the overall or local extinction of hundreds of native fish by the 1980s. We ask whether this dramatic change in assemblage composition has led to competitive release and niche expansion in Rastrineobola argentea, a resilient native cyprinid that has thrived in this highly perturbed ecosystem.

To address this question, we compare the trophic ecology of R. argentea before (1966) and after (2011) the introduction of the Nile perch in Lake Victoria; and across eight satellite lakes that differ in their history of Nile perch invasion. Using this combination of spatial and temporal comparisons, we test for increases in dietary niche breadth (niche expansion) and changes in the level of individual specialisation of R. argentea in invaded versus uninvaded contexts.

In our historical comparison, we find good evidence for dietary niche expansion and an increase in interindividual diet variation in R. argentea over time. Across lakes, however, strong bottom‐up effects (i.e. variation in prey availability) appear to obscure any potential top‐down effects of the Nile perch introduction on the trophic ecology of R. argentea.

Overall, we find substantial temporal and spatial variation in the diet and niche breadth of R. argentea, but the underlying drivers remain uncertain, given the complexity of both anthropogenic and natural ecological changes in Lake Victoria over the past century. Understanding both the direct and indirect impacts of introduced species is challenging, but important for successful long‐term management of human‐altered ecosystems.
High secondary production in a Coastal Plain river is dominated by snag invertebrates and fuelled mainly by amorphous detritus
Authors: Benke Arthur C. , Bruce Wallace J. 
Published: September 2014

Summary

The 2‐years production dynamics of major taxa (family/order) and functional feeding groups was synthesised from detailed production analyses previously published for all major invertebrate species/genera (retained by a 100 μm sieve) found on snags (submerged wood) in a sixth‐order south‐eastern U.S. Coastal Plain river.

The trophic basis of this production and annual consumption of six food types were quantified. Invertebrate production (148 and 203 g dry mass m−2 year−1 of snag surfaces for the 2 years) was among the highest ever measured for a specific habitat in non‐polluted or unregulated rivers and was still relatively high when converted to overall area of the river bed (48 and 70 g m−2 year−1). Snag production constituted 73% of total main‐channel production (production from snag and river bed combined). Chironomidae (40–44% over the 2 years), Ephemeroptera (14–21%) and Trichoptera (25–31%) together represented the majority (88–93%) of the putative production of primary consumers on snags.

Functional group analysis showed that fine filterers (26–36% over the 2 years), gatherers (36–44%) and macro‐filterers (21–25%) represented the majority of total invertebrate production. Production of predaceous insects (mostly Plecoptera, Odonata and Megaloptera) represented only 5–7% of the total.

Production of the three major taxa and three major functional groups was remarkably consistent over 2 years of monthly sampling, despite strong seasonal variation in discharge/light/temperature and production of individual genera and families.

Seventy‐nine per cent of production by primary consumers was supported by microbially enriched amorphous detritus, the major component of seston originating primarily from floodplain forests. Invertebrates consumed ˜357 g AFDM m−2 (river bed) year−1 of seston, 325 g m−2 year−1 of amorphous detritus and 20 g m−2 year−1 of diatoms. Dividing seston consumption by seston transport indicated that ˜67% of seston was consumed over 100 km of river length.

Consumption was higher than autochthonous net primary production, supporting other evidence that terrestrially derived dissolved organic matter, incorporated via the microbial loop, is the main trophic basis of this riverine food web. Macro‐filtering hydropsychid caddisflies were omnivorous with > half their production from carnivory. Snag predators, including hydropsychids, consumed ˜60% (29 g m−2 year−1 of river bed) of invertebrate production (assumed to be from snags), leaving the remainder for emergence, downstream transport and consumption by fish.
Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations
Authors: Guo Z.‐P. , Yang L.‐H. , Qin X.‐Y. , Liu X.‐E. , Chen J.‐F. , Zhang Y.‐F. 
Published: September 2014

SummaryMolecular characterization of haemophilia B (HB) at the factor IX gene (F9) is essential to establish diagnosis, confirm genotype‐phenotype correlations and to advise in genetic counselling. This study aimed to identify the causative mutations in 21 Chinese families with HB and to analyse the association of these mutations with clinical phenotype. Phenotypic analyses were performed using one‐stage assay for factor IX (FIX) activity (FIX: C) and enzyme‐linked immunosorbent assay for FIX antigen (FIX: Ag). Direct sequencing of the F9 gene was carried out. For those suspected to have a large deletion, multiplex ligation‐dependent probe amplification (MLPA) was performed. Predicting the causal impact of new changes was studied by bioinformatics approaches. We also assessed the effect of the F9 mutations on the FIX protein structure and function. Causative mutations were detected in all study patients. There were 14 point mutations, three small deletions, one large deletion and one small in‐frame duplication that together comprised a total of 19 unique variants, of which five were novel. The structural and functional defects of novel missense and in‐frame deletion/duplication mutations were demonstrated by bioinformatics approaches. The 12 missense mutations include five purely quantitative mutations, five predominantly qualitative abnormalities and two combined defects. Our data confirmed the genetic heterogeneity of the F9 mutations. Quantitative missense mutations were found to be in different regions of precursor FIX compared with qualitative and combined ones.
Prognostic significance of 25‐hydroxivitamin D entirely explained by a higher comorbidity burden: Experience from a South‐Eastern European Dialysis Cohort
Authors: Schiller Adalbert , Apetrii Mugurel , Onofriescu Mihai , Siriopol Dimitrie , Veisa Gabriel , Schiller Oana , Bob Flaviu , Timar Romulus , Mihaescu Adelina , Kanbay Mehmet , Covic Adrian 
Published: September 2014

AbstractVitamin D deficiency is still a common problem particularly in the elderly and in individuals with various degrees of renal impairment. The present study aimed to evaluate the association between plasma concentrations of 25(OH)D and death in a large cohort of prevalent patients on hemodialysis (HD) from south‐east Romania, a typical Balkan region. This is an observational prospective study that included a total of 570 patients on maintenance HD. Study patients were classified into three groups by baseline 25(OH)D levels: (1) sufficient 25(OH)D—i.e., >30 ng/mL; (2) insufficient 25(OH)D—i.e., between 10 and 29 ng/mL; and (3) deficient 25(OH)D—i.e., <10 ng/mL. During the follow‐up period of 14 months, 68 patients (11.9%) died, the Kaplan–Meier analysis showing significant differences in all‐cause mortality for chronic kidney disease patients in different 25(OH)D groups (P = 0.002). Unadjusted Cox regression analysis also showed significant differences in survival. The multivariate Cox regression model showed no significant differences in survival according to vitamin D levels. Hazard ratio for death in the “<10 ng/mL” group was 1.619 (P = 0.190) and in the “10–30 ng/mL” group was 0.837 (P = 0.609). In our dialysis population with a high comorbidity burden, low 25(OH)D concentration was not associated with mortality in the adjusted Cox model, suggesting that vitamin D deficiency could represent only a non‐specific marker for a poor health status, with less impact on mortality.
World Stroke Organization Global Stroke Services Guidelines and Action Plan
Authors: Lindsay Patrice , Furie Karen L. , Davis Stephen M. , Donnan Geoffrey A. , Norrving Bo 
Published: September 2014

Every two seconds, someone across the globe suffers a symptomatic stroke. ‘Silent’ cerebrovascular disease insidiously contributes to worldwide disability by causing cognitive impairment in the elderly. The risk of cerebrovascular disease is disproportionately higher in low to middle income countries where there may be barriers to stroke care. The last two decades have seen a major transformation in the stroke field with the emergence of evidence-based approaches to stroke prevention, acute stroke management, and stroke recovery. The current challenge lies in implementing these interventions, particularly in regions with high incidences of stroke and limited healthcare resources. The Global Stroke Services Action Plan was conceived as a tool to identifying key elements in stroke care across a continuum of health models. At the minimal level of resource availability, stroke care delivery is based at a local clinic staffed predominantly by non-physicians. In this environment, laboratory tests and diagnostic studies are scarce, and much of the emphasis is placed on bedside clinical skills, teaching, and prevention. The essential services level offers access to a CT scan, physicians, and the potential for acute thrombolytic therapy, however stroke expertise may still be difficult to access. At the advanced stroke services level, multidisciplinary stroke expertise, multimodal imaging, and comprehensive therapies are available. A national plan for stroke care should incorporate local and regional strengths and build upon them. This clinical practice guideline is a synopsis of the core recommendations and quality indicators adapted from ten high quality multinational stroke guidelines. It can be used to establish the current level of stroke services, target goals for expanding stroke resources, and ensuring that all stages of stroke care are being adequately addressed, even at the advanced stroke services level. This document is a start, but there is more to be done, particularly in the realm of primary prevention. Despite differences in resource availability, the message we wish to convey is that stroke awareness, education, prevention, and treatment should always be feasible. Communities and institutions should set goals to continuously expand their stroke service capabilities. This document is intended to augment stroke advocacy efforts throughout the world, providing a strategic plan for optimizing stroke outcomes.