bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation discovery forMendelian traits in non‐laboratory animals: a review of achievements up to 2012
Authors: Nicholas Frank W. , Hobbs Matthew 
Published: December 2013

SummaryWithin two years of the re‐discovery ofMendelism,Bateson andSaunders had described six traits in non‐laboratory animals (five in chickens and one in cattle) that show single‐locus (Mendelian) inheritance. In the ensuing decades, much progress was made in documenting an ever‐increasing number of such traits. In 1987 came the first discovery of a causal mutation for aMendelian trait in non‐laboratory animals: a non‐sense mutation in thethyroglobulingene (TG), causing familial goitre in cattle. In the years that followed, the rate of discovery of causal mutations increased, aided mightily by the creation of genome‐wide microsatellite maps in the 1990s and even more mightily by genome assemblies and single‐nucleotide polymorphism (SNP) chips in the 2000s. With sequencing costs decreasing rapidly, by 2012 causal mutations were being discovered in non‐laboratory animals at a rate of more than one per week. By the end of 2012, the total number of Mendelian traits in non‐laboratory animals with known causal mutations had reached 499, which was half the number of published single‐locus (Mendelian) traits in those species. The distribution of types of mutations documented in non‐laboratory animals is fairly similar to that in humans, with almost half being missense or non‐sense mutations. The ratio of missense to non‐sense mutations in non‐laboratory animals to the end of 2012 was 193:78. The fraction of non‐sense mutations (78/271 = 0.29) was not very different from the fraction of non‐stop codons that are just one base substitution away from a stop codon (21/61 = 0.34).
Evaluation of driving confidence in post‐stroke older drivers in South Australia
Authors: McNamara Annabel , Ratcliffe Julie , George Stacey 
Published: December 2013

AimTo determine whether self‐perceived driving confidence levels are lower in the post‐stroke driving population than their aged‐matched non‐stroke driving peers. A lack of driving confidence has been linked to self‐limiting driving behaviours.MethodAdelaide Driving Self‐Efficacy Scale (ADSES) scores were collected for a stroke population who returned to driving (N = 40, 25 men) with a mean age of 65 (SD = 12.17) years and an older non‐stroke driver population (N = 114, 56 men) with a mean age of 72 (SD = 5.2) years.ResultsThe non‐stroke and stroke groups showed no significant differences in ADSES scores (t(153) = 0.32, P = 0.58).ConclusionStroke survivors who return to driving have no differences in their driving confidence to their aged‐matched non‐stroke driving peers. Timely recognition of lack of driving confidence might allow for appropriately targeted intervention strategies and prevent premature driving cessation.
Percutaneous Penetration ‐ Methodological Considerations
Authors: Holmgaard Rikke , Benfeldt Eva , Nielsen Jesper B. 
Published: December 2013

AbstractStudies on percutaneous penetration are needed to assess the hazards after unintended occupational skin exposures to industrial products as well as the efficacy after intended consumer exposure to topically applied medicinal or cosmetic products. During recent decades, a number of methods have been developed to replace methods involving experimental animals. The results obtained from these methods are decided not only by the chemical or product tested, but to a significant degree also by the experimental set‐up and decisions made by the investigator during the planning phase. The present MiniReview discusses some of the existing and well‐known experimental in vitro and in vivo methods for studies of percutaneous penetration together with some more recent and promising methods. After this, some considerations and recommendations about advantages and limitations of the different methods and their relevance for the prediction of percutaneous penetration are given. Which method to prefer will depend on the product to be tested and the question asked. Regulatory guidelines exist for studies on percutaneous penetration, but researchers as well as regulatory bodies need to pay specific attention to the vehicles and solvents used in donor and sampling fluids so that it reflects in‐use conditions as closely as possible. Based on available experimental data, mathematical models have been developed to aid predictions of skin penetration. The authors question the general use of the present mathematical models in hazard assessment, as they seem to ignore outliers among chemicals as well as the heterogeneity of skin barrier properties and skin conditions within the exposed populations.
Implicit Decals: Interactive Editing of Repetitive Patterns on Surfaces
Authors: de Groot Erwin , Wyvill Brian , Barthe Loïc , Nasri Ahmad , Lalonde Paul 
Published: December 2013

AbstractTexture mapping is an essential component for creating 3D models and is widely used in both the game and the movie industries. Creating texture maps has always been a complex task and existing methods carefully balance flexibility with ease of use. One difficulty in using texturing is the repeated placement of individual textures over larger areas. In this paper, we propose a method which uses decals to place images onto a model. Our method allows the decals to compete for space and to deform as they are being pushed by other decals. A spherical field function is used to determine the position and the size of each decal and the deformation applied to fit the decals. The decals may span multiple objects with heterogeneous representations. Our method does not require an explicit parametrization of the model. As such, varieties of patterns, including repeated patterns like rocks, tiles and scales can be mapped. We have implemented the method using the GPU where placement, size and orientation of thousands of decals are manipulated in real time.
Projection Mapping on Arbitrary Cubic Cell Complexes
Authors: Apaza‐Agüero K. , Silva L. , Bellon O. R. P.  
Published: December 2013

AbstractThis work presents a new representation used as a rendering primitive of surfaces. Our representation is defined by an arbitrary cubic cell complex: a projection‐based parameterization domain for surfaces where geometry and appearance information are stored as tile textures. This representation is used by our ray casting rendering algorithm called projection mapping, which can be used for rendering geometry and appearance details of surfaces from arbitrary viewpoints. The projection mapping algorithm uses a fragment shader based on linear and binary searches of the relief mapping algorithm. Instead of traditionally rendering the surface, only front faces of our rendering primitive (our arbitrary cubic cell complex) are drawn, and geometry and appearance details of the surface are rendered back by using projection mapping. Alternatively, another method is proposed for mapping appearance information on complex surfaces using our arbitrary cubic cell complexes. In this case, instead of reconstructing the geometry as in projection mapping, the original mesh of a surface is directly passed to the rendering algorithm. This algorithm is applied in the texture mapping of cultural heritage sculptures.
Implications of Macroalgal Isolation by Distance for Networks of Marine Protected Areas
Authors: DURRANT HALLEY M. S. , BURRIDGE CHRISTOPHER P. , KELAHER BRENDAN P. , BARRETT NEVILLE S. , EDGAR GRAHAM J. , COLEMAN MELINDA A. 
Published: December 2013

AbstractThe global extent of macroalgal forests is declining, greatly affecting marine biodiversity at broad scales through the effects macroalgae have on ecosystem processes, habitat provision, and food web support. Networks of marine protected areas comprise one potential tool that may safeguard gene flow among macroalgal populations in the face of increasing population fragmentation caused by pollution, habitat modification, climate change, algal harvesting, trophic cascades, and other anthropogenic stressors. Optimal design of protected area networks requires knowledge of effective dispersal distances for a range of macroalgae. We conducted a global meta‐analysis based on data in the published literature to determine the generality of relation between genetic differentiation and geographic distance among macroalgal populations. We also examined whether spatial genetic variation differed significantly with respect to higher taxon, life history, and habitat characteristics. We found clear evidence of population isolation by distance across a multitude of macroalgal species. Genetic and geographic distance were positively correlated across 49 studies; a modal distance of 50–100 km maintained FST < 0.2. This relation was consistent for all algal divisions, life cycles, habitats, and molecular marker classes investigated. Incorporating knowledge of the spatial scales of gene flow into the design of marine protected area networks will help moderate anthropogenic increases in population isolation and inbreeding and contribute to the resilience of macroalgal forests.Implicaciones del Aislamiento por Distancia de Macroalgas para Redes de Áreas Marinas Protegidas
Selection of Multiple Umbrella Species for Functional and Taxonomic Diversity to Represent Urban Biodiversity
Authors: SATTLER T. , PEZZATTI G. B. , NOBIS M. P. , OBRIST M. K. , ROTH T. , MORETTI M. 
Published: December 2013

AbstractSurrogates, such as umbrella species, are commonly used to reduce the complexity of quantifying biodiversity for conservation purposes. The presence of umbrella species is often indicative of high taxonomic diversity; however, functional diversity is now recognized as an important metric for biodiversity and thus should be considered when choosing umbrella species. We identified umbrella species associated with high taxonomic and functional biodiversity in urban areas in Switzerland. We analyzed 39,752 individuals of 574 animal species from 96 study plots and 1397 presences of 262 plant species from 58 plots. Thirty‐one biodiversity measures of 7 taxonomic groups (plants, spiders, bees, ground beetles, lady bugs, weevils and birds) were included in within‐ and across‐taxa analyses. Sixteen measures were taxonomical (species richness and species diversity), whereas 15 were functional (species traits including mobility, resource use, and reproduction). We used indicator value analysis to identify umbrella species associated with single or multiple biodiversity measures. Many umbrella species were indicators of high biodiversity within their own taxonomic group (from 33.3% in weevils to 93.8% in birds), to a lesser extent they were indicators across taxa. Principal component analysis revealed that umbrella species for multiple measures of biodiversity represented different aspects of biodiversity, especially with respect to measures of taxonomic and functional diversity. Thus, even umbrella species for multiple measures of biodiversity were complementary in the biodiversity aspects they represented. Thus, the choice of umbrella species based solely on taxonomic diversity is questionable and may not represent biodiversity comprehensively. Our results suggest that, depending on conservation priorities, managers should choose multiple and complementary umbrella species to assess the state of biodiversity.Selección de Múltiples Especies Paraguas para la Diversidad Funcional y Taxonómica para Representar la Biodiversidad Urbana
Assessing the effects of sodium on fire ant foraging in the field and colony growth in the laboratory
Authors: RESASCO JULIAN , PORTER SANFORD D. , SANDERS NATHAN J. , LEVEY DOUGLAS J. 
Published: December 2013

Sodium is an essential dietary element and preferential foraging for high concentrations of sodium by inland herbivorous and omnivorous ants suggests it may be limiting. If so, increased sodium availability through altered deposition and anthropogenic sources may lead to increased colony and population growth and cascading ecological impacts.For red imported fire ants,Solenopsis invictaBuren, the present study tests: (i) whether colonies from coastal and inland sites differ in their responses toNaClbaits; and (ii) whether supplementalNaClincreases growth of fire ant colonies in the laboratory.Fire ants in inland sites with low sodium deposition responded roughly an order of magnitude more strongly to high concentrations ofNaClbaits than did fire ants in coastal sites with high sodium deposition.Laboratory colonies of fire ants, however, showed no signs of sodium limitation or benefits of increased sodium. The link between behavioural responses to baits in the field and effects on colony growth deserves further investigation to assess the ecological impacts of altered sodium availability.
Expression of vesicle‐associated membrane‐protein‐associated protein B cleavage products in peripheral blood leukocytes and cerebrospinal fluid of patients with sporadic amyotrophic lateral sclerosis
Authors: Deidda I. , Galizzi G. , Passantino R. , Cascio C. , Russo D. , Colletti T. , La Bella V. , Guarneri P. 
Published: December 2013

Background and purposeVesicle‐associated membrane‐protein‐associated protein B (VAPB) is an endoplasmic reticulum (ER) resident protein participating in ER function, vesicle trafficking, calcium homeostasis and lipid transport. Its N‐terminal domain, named MSP, is cleaved and secreted, serving as an extracellular ligand. VAPB mutations are linked to autosomal‐dominant motor neuron diseases, including amyotrophic lateral sclerosis (ALS) type 8. An altered VAPB function is also suspected in sporadic ALS (SALS).MethodsThe expression pattern of VAPB cleavage and secreted products in the peripheral blood leukocytes (PBL) and cerebrospinal fluid (CSF) of SALS patients and neurological controls was assessed. PBL from healthy controls were also analyzed. Assays were carried out through western blotting, using an anti‐VAPB (N‐terminal) antibody.ResultsTwo VAPB fragments containing the MSP domain (17 kDa and 14 kDa molecular sizes) were identified in PBL of SALS and controls, with no significant differences amongst groups. In CSF, only the 14 kDa VAPB MSP fragment was expressed and a corresponding VAPA fragment was not detected. The CSF VAPB fragment was absent in 58.7% of SALS patients, of whom 79.2% were bulbar onset (P = 0.001, bulbar versus spinal).ConclusionsThe absence of the CSF VAPB MSP fragment from most bulbar‐onset SALS patients suggests a specific alteration of brain‐derived VAPB cleavage and secretion in this group of patients, and hints at a role of VAPB in the pathophysiology of this motor neuron disease.
Hemodynamic evidence linking cognitive deficits in clinically isolated syndrome to regional brain inflammation
Authors: Papadaki E. Z. , Simos P. G. , Panou T. , Mastorodemos V. C. , Maris T. G. , Karantanas A. H. , Plaitakis A. 
Published: December 2013

Background and purposeTo investigate the relation between hemodynamic measurements and memory function in patients with clinically isolated syndrome (CIS).MethodsForty CIS patients were administered tests of verbal short‐term/working memory and passage learning. Using dynamic susceptibility contrast MRI cerebral blood volume (CBV), cerebral blood flow and mean transit time values were estimated in 20 cerebral regions of interest, placed in normal appearing white matter (NAWM) and normal appearing deep gray matter structures, bilaterally.ResultsCIS patients showed significantly impaired scores on working memory and secondary verbal memory that correlated inversely with elevated CBV values in the left frontal and periventricular NAWM, thalamus, right caudate and corpus callosum.ConclusionsVerbal memory in CIS correlates inversely with elevated CBV values of brain structures involved in memory. As these hemodynamic changes, detected in CIS, are indicative of inflammation, the observed cognitive disturbances may relate to widespread brain inflammatory processes that prevail in early multiple sclerosis.
A longitudinal study of family structure in Swedish persons with haemophilia
Authors: Lövdahl S. , Henriksson K. M. , Baghaei F. , Holmström M. , Berntorp E. , Astermark J. 
Published: December 2013

SummaryHaemophilia is an X‐linked inherited rare bleeding disorder affecting mainly men. The treatment consists of replacement therapy that has been associated with severe side effects, such as blood transmitted viral infections, but has markedly improved over the last decades. The aim of this study was to study family structure over time among Swedish persons with haemophilia (PWH), focusing on children, siblings and marital status. PWH A or B were identified from the haemophilia centres and the national Patient Registry. Each PWH was compared to five age‐ and gender‐matched controls. The national Multi‐Generation Registry was used to identify children and siblings. A total of 1365 children with a father suffering from haemophilia A or B and 1938 siblings of the PWH were identified. Having one or more children was significantly less common (P = 0.003) for PWH than for controls. Significantly lower rates of having a child were also found for the subgroups of persons suffering from severe haemophilia and those infected with HIV (P < 0.001). A higher proportion of PWH, with or without HIV and/or viral hepatitis had siblings compared to the controls (P < 0.001). However, the mean number of siblings was significantly lower for persons with severe haemophilia (P = 0.001). The number of marriages and divorces did not differ between PWH and controls. Our data indicate a negative impact of HIV and viral hepatitis on family structure for PWH despite the relatively good access to treatment in Sweden over the last few decades. This was particularly true for those with a severe form of haemophilia.
Preoperative indicators of length of stay following total hip replacement: a New Zealand‐based retrospective, observational study
Authors: Le Mar Karen Jane , Whitehead Dean 
Published: December 2013

Aims and objectivesTo identify preoperative risk factors that potentially affect postoperative length of stay of patients undergoing total hip replacement.BackgroundWith limited health resources and an ageing population, alongside an increasing prevalence of osteoarthritis and the growing need for total hip replacement, reducing length of stay is a mainstay of effective and cost‐efficient orthopaedic practice.DesignA retrospective observational study.MethodsData from a convenience sample of 243 patients having undergone an elective unilateral total hip replacement between January 2008–December 2009 were collected. Demographic data were studied and allied against the main preoperative risk factors – with length of stay being the main outcome measure.ResultsPearson's correlation demonstrated a moderate positive correlation between age and a longer postoperative stay. The number of comorbidities did not have an impact on length of stay. Demographic findings included almost half the cohort lived with hypertension, and 66% of the available cases (n = 196) were deemed overweight.ConclusionsCollecting accurate and comprehensive assessment information relating to preoperative risk factors for total hip replacement, significantly impacts on postoperative outcomes specifically related to length of stay.Relevance to clinical practiceIn complex healthcare systems, where there is a need for quality client outcomes tempered against limited resources, this study highlights the benefits of accurate preassessment of orthopaedic clients undergoing major surgical intervention against the desirable outcomes of reduced lengths of admission.
Constipation – prevalence and incidence among medical patients acutely admitted to hospital with a medical condition
Authors: Noiesen Eline , Trosborg Ingelise , Bager Louise , Herning Margrethe , Lyngby Christel , Konradsen Hanne 
Published: December 2013

Aims and objectivesTo examine the prevalence and incidence of patient‐reported symptoms of constipation in acutely hospitalised medical patients.BackgroundConstipation is a common medical problem with severe consequences, and most people suffer from constipation at some point in their lives. In the general population, constipation is one of the most common complaints and is a significant personal and public health burden. Alteration in patients’ patterns of elimination while in hospital has long been identified as either a potential or an actual problem that requires attention. Knowledge of the prevalence and incidence of constipation during hospitalisation is only sporadic.DesignThe study was descriptive and a prospective cohort design was chosen.MethodsThe Constipation Assessment Scale was translated into Danish and was used for the assessment of patient‐reported bowel function. Five nurses made the assessments at admission to the acute medical ward and three days after admission. Three hundred and seventy‐three patients participated in this study.ResultsThirty‐nine percent of the patients showed symptoms of constipation at admission. Of the patients who did not have the symptoms at admission, 43% developed the symptoms during the first three days of their stay in hospital. Significantly more of the older patients developed symptoms of moderate constipation. The incidence rate was 143 new cases per 1000 patient days.ConclusionsIn this study, symptoms of constipation were common among patients acutely admitted to hospital due to different medical conditions. Symptoms of constipation were also developed during the first three days of the stay in hospital.Relevance to clinical practiceThe study highlights the need to develop both clinical guidelines towards treating constipation, and preventive measures to ensure that patients do not become constipated while staying in hospital.
Effect of prolonged wakefulness on electroencephalographic oscillatory activity during sleep
Authors: Olbrich Eckehard , Landolt Hans Peter , Achermann Peter 
Published: December 2013

SummaryThe human sleep electroencephalogram (EEG) is characterized by the occurrence of distinct oscillatory events such as delta waves, sleep spindles and alpha activity. We applied a previously proposed algorithm for the detection of such events and investigated their incidence and frequency in baseline and recovery sleep after 40 h of sustained wakefulness in 27 healthy young subjects. The changes in oscillatory events induced by sleep deprivation were compared to the corresponding spectral changes. Both approaches revealed, on average, an increase in low frequency activity and a decrease in spindle activity after sleep deprivation. However, the increase of oscillatory events in the delta range and decrease in the sigma range occurred in a more restricted frequency range compared to spectral changes. The mean relative power spectra showed a significant increase in theta and alpha activity after sleep deprivation while, on average, the event analysis showed only a weak effect in the theta band. The reason for this discrepancy is that the spectral analysis does not distinguish between diffuse activity and clearly visible temporally localized oscillations, while the event analysis would detect only the latter. Additionally, only a few individuals clearly showed activity in the theta or alpha frequency bands. Conversely, event analysis revealed that some individuals showed an increased rate of sleep spindles after sleep deprivation, a fact that was not evident in the relative power spectra due to a decrease in background activity. The two methods complement each other and facilitate the interpretation of distinct changes induced by prolonged wakefulness in sleep EEG.