bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations
Authors: Shahrour M.A. , Staretz‐Chacham O. , Dayan D. , Stephen J. , Weech A. , Damseh N. , Pri Chen H. , Edvardson S. , Mazaheri S. , Saada A. ,   NISC Intramural Sequencing, Hershkovitz E. , Shaag A. , Huizing M. , Abu‐Libdeh B. , Gahl W.A , Azem A. , Anikster Y. , Vilboux T. , Elpeleg O. , Malicdan M.C. 
Published: August 2016

Mitochondrial encephalopathies are a heterogeneous group of disorders that, usually carry grave prognosis. Recently a homozygous mutation, Gly372Ser, in the TIMM50 gene, was reported in an abstract form, in three sibs who suffered from intractable epilepsy and developmental delay accompanied by 3‐methylglutaconic aciduria.We now report on four patients from two unrelated families who presented with severe intellectual disability and seizure disorder, accompanied by slightly elevated lactate level, 3‐methylglutaconic aciduria and variable deficiency of mitochondrial complex V. Using exome analysis we identified two homozygous missense mutations, Arg217Trp and Thr252Met, in the TIMM50 gene. The TIMM50 protein is a subunit of TIM23 complex, the mitochondrial import machinery. It serves as the major receptor in the intermembrane space, binding to proteins which cross the mitochondrial inner membrane on their way to the matrix. The mutations, which affected evolutionary conserved residues and segregated with the disease in the families, were neither present in large cohorts of control exome analyses nor in our ethnic specific exome cohort. Given the phenotypic similarity, we conclude that missense mutations in TIMM50 are likely manifesting by severe intellectual disability and epilepsy accompanied by 3‐methylglutaconic aciduria and variable mitochondrial complex V deficiency. 3‐methylglutaconic aciduria is emerging as an important biomarker for mitochondrial dysfunction, in particular for mitochondrial membrane defects.
Impact of abnormal cerebrovascular reactivity on BOLD fMRI: a preliminary investigation of moyamoya disease
Authors: Mazerolle Erin L. , Ma Yuhan , Sinclair David , Pike G. Bruce 
Published: August 2016

SummaryBlood oxygen level‐dependent (BOLD) functional magnetic resonance imaging (fMRI) studies of patients with cerebrovascular disease have largely ignored the confounds associated with abnormal cerebral blood flow, vascular reactivity and neurovascular coupling. We studied BOLD fMRI activation and cerebrovascular reactivity in moyamoya disease. To characterize the impact of remote vascular demands on BOLD fMRI measurements, we varied the vascular territories engaged by manipulating the experimental task performed by the participants. Vascular territories affected by disease were identified using BOLD cerebrovascular reactivity. Preliminary evidence from two patients pre‐ and postrevascularization surgery and four controls indicates that neurovascular coupling in affected brain regions can be modulated by the task‐related vascular demands in unaffected regions. In one patient studied, we observed that brain regions with improved cerebrovascular reactivity after surgery demonstrated normalized neurovascular coupling, that is the degree to which neurovascular coupling was modulated by task‐related vascular demands was decreased. We propose that variations in task‐dependent neurovascular coupling in patients with moyamoya disease are likely related to vascular steal. While preliminary, our findings are a proof of concept of the limitations of BOLD fMRI in cerebrovascular disease and suggest a role for assessment of cerebrovascular reactivity to improve interpretation of task‐related BOLD fMRI activation.
Programming the Gesture of Writing: On the Algorithmic Paratexts of the Digital
Authors: Adams Catherine 
Published: August 2016

AbstractIn the wake of the digital, some have recommended that we abandon the tedium of teaching handwriting to children in service of promoting “more creative” digital literacies. Others worry that an early diet of keyboard and screen may have deleterious effects on children's social, emotional, and cognitive development, as well as their physical well‐being. Yet in this debate, the algorithmic scripts and digital surfaces underwriting these new reading, writing, and mathematical practices are, with a few notable exceptions, almost exclusively ignored. In this essay, Catherine Adams asks whether the digital, and the reading and writing spaces it affords, are of consequence to our habits of thinking and ways of being, particularly in light of the possible obsolescence of pen and paper in schools. She shows that writing using a word processor is no mere mechanical pressing of keys, but an intricate ballet of writerly reading eyes and readerly writing hands, caught up in a dynamic environment of algorithmic paratexts and copy‐cut‐paste thinking.
Learning to Write: Plowing and Hoeing, Labor and Essaying
Authors: Fulford Amanda 
Published: August 2016

AbstractIn this paper Amanda Fulford addresses the issue of student writing in the university, and explores how the increasing dominance of outcome‐driven modes of learning and assessment is changing the understanding of what it is to write, what is expected of students in their writing, and how academic writing should best be supported. The starting point is the increasing use of what are termed “technologies” of writing — “handbooks” for students that address issues of academic writing — that systematize, and smooth the work of writing in, Fulford argues, an unhelpful way. This leads to a reconsideration of what it means to write in the university, and what it is to be a student who writes. Fulford explores etymologically the concept of “writing” and suggests that it might be seen metaphorically as physical labor. Writing as physical labor is explored further through the agricultural metaphors in Henry David Thoreau's Walden and through Stanley Cavell's reading of that text. In making a distinction between writing‐as‐plowing and writing‐as‐hoeing, Fulford argues that some technologies of writing deny voice rather than facilitate it, and she concludes by offering a number of suggestions for the teaching and learning of writing in the university that emphasize the value of being lost (in one's subject and one's work) and finding one's own way out. These “lessons” are illustrated with reference to Thoreau's text Walden and to American literature and film.
Biofeedback to treat anxiety in young people at clinical high risk for developing psychosis
Authors: McAusland Laina , Addington Jean 
Published: August 2016

AbstractAimAnxiety is a common presenting concern for individuals at clinical high risk (CHR) for psychosis. Treatment for CHR is still in the early stages and has focused on transition to psychosis and positive symptom reduction, but little is known about what may be effective in reducing anxiety for these young people. One treatment that may be effective for anxiety is heart rate variability (HRV) biofeedback. The aim of this study was to test the efficacy and feasibility of using HRV biofeedback to reduce anxiety and distress in those at CHR.MethodsTwenty participants who met minimum scores for anxiety and distress completed 4 weeks of an HRV biofeedback intervention and received pre‐ and post‐intervention assessments. Repeated measures were used to examine changes in scores over time.ResultsThere was a significant decrease in impaired ability to tolerate normal stressors (P ≤ 0.001) and dysphoric mood (P ≤ 0.001) over time. There was no change on self‐reported measures of anxiety and distress. However, when two outliers were removed there was a trend towards improvement in self‐reported anxiety (P = 0.07). These results were not impacted by including usage time as a covariate. Feedback and adherence were significant.Conclusions
HRV biofeedback may be a feasible treatment option for individuals at CHR who have concerns with impaired stress tolerance and dysphoric mood. Future studies with a randomized controlled trial design will be necessary to further determine efficacy.
Perception towards relapse and its predictors in psychosis patients: A qualitative study
Authors: Hui Christy L.M. , Lo Matthew C.L. , Chan Esther H.C. , Chen Emily S.M. , Ko Rachel W.T. , Lee Edwin H.M. , Chang Wing Chung , Chan Sherry K.W. , Chen Eric Y.H. 
Published: August 2016

AbstractAimsTo explore in psychosis patients their subjective perceptions on the definition of relapse, the costs involved, the potential risk and protective factors for relapse, the effect of medication and the consequences of relapse.MethodSixteen patients who had previously enrolled into a randomized controlled trial of medication discontinuation during first‐episode psychosis were interviewed after 10 years.ResultsPatients had a broader definition of the criteria of relapse, extending from medication discontinuation to family support. Although most agreed that taking antipsychotics is effective in preventing relapse, most have negative views on them. All patients predicted their risk of relapse to be less than 50% and they were generally optimistic about the future.ConclusionThese findings have implications for development of effective medication compliance and relapse prevention programmes in psychosis.
Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population‐based study
Authors: Gaily Eija , Lommi Markus , Lapatto Risto , Lehesjoki Anna‐Elina 
Published: August 2016

SummaryObjectivePopulation‐based studies on infantile epilepsy syndromes are scarce. Our aim was to provide syndrome‐specific data on the incidence and outcome of epilepsy in a population‐based cohort of infants with epilepsy onset in the first year.MethodsIncluded were all infants born in 1997 through 2006 whose epileptic seizures started before 12 months of age and who were residents of the Helsinki University Hospital district at the time of seizure onset. Patients were ascertained from hospital statistics, and all patient charts were reviewed. A reevaluation of the epilepsy syndromes, age at onset, etiology, and outcome at 24 months of age was based on data abstracted from the patient files.ResultsInclusion criteria were fulfilled by 158 infants, of whom 92% were followed until age 24 months or death. The incidence of epilepsy in the first year was 124 of 100,000. An epilepsy syndrome recognized by the revised organization of epilepsies byILAEwas identified in 58% of the patients. The most common syndromes were West syndrome (41/100,000) and benign familial or nonfamilial infantile epilepsy (22/100,000). Etiology was structural‐metabolic in 35%, genetic in 17%, and unknown in 48%. Early age at onset was associated with structural‐metabolic etiology. Seven infants (4.4%) died before age 2 years. One infant with anSCN2Amutation died of sudden unexplained death in epilepsy (SUDEP). At 24 months, 58% of all children included in the cohort were seizure‐free, and 46% had both seizure freedom and age‐appropriate cognitive development. Age at onset was not associated with outcome when etiology was controlled for.SignificanceBenign familial and nonfamilial infantile epilepsy appears to be more common than previously suggested, second only to West syndrome. Early age at onset is not an independent risk factor for poor outcome.
The battle of the bulge: re‐evaluating hair follicle stem cells in wound repair
Authors: Garcin Clare L. , Ansell David M. 
Published: August 2016

AbstractThe hair follicle has an established role in wound re‐epithelialisation, a phenomenon that has been appreciated since at least the first half of the last century. The bulge niche, one location of hair follicle epithelial stem cells has been of particular interest to researchers over recent years, with numerous studies showing its ability to directly contribute to epidermal repair. However, recent work has highlighted other progenitor regions of the hair follicle that appear to act as stem cells during epidermal repair. In addition, several studies within the last 12 months have questioned the importance of the bulge during re‐epithelialisation, producing conflicting literature. Here we provide a new model to demonstrate how several important differences in experimental design between studies could account for these seemingly opposing findings, which may have implications for how future studies are conducted.
A review of genetic engineering biotechnologies for enhanced chronic wound healing
Authors: Sessions John W. , Armstrong David G. , Hope Sandra , Jensen Brian D. 
Published: August 2016

AbstractTraditional methods for addressing chronic wounds focus on correcting dysfunction by controlling extracellular elements. This review highlights technologies that take a different approach – enhancing chronic wound healing by genetic modification to wound beds. Featured cutaneous transduction/transfection methods include viral modalities (ie adenoviruses, adeno‐associated viruses, retroviruses and lentiviruses) and conventional non‐viral modalities (ie naked DNA injections, microseeding, liposomal reagents, particle bombardment and electroporation). Also explored are emerging technologies, focusing on the exciting capabilities of wound diagnostics such as pyrosequencing as well as site‐specific nuclease editing tools such as CRISPR‐Cas9 used to both transiently and permanently genetically modify resident wound bed cells. Additionally, new non‐viral transfection methods (ie conjugated nanoparticles, multi‐electrode arrays, and microfabricated needles and nanowires) are discussed that can potentially facilitate more efficient and safe transgene delivery to skin but also represent significant advances broadly to tissue regeneration research.
Comparing the utility of fishery‐independent and fishery‐dependent methods in assessing the relative abundance of estuarine fish species in partial protection areas
Authors: Ochwada‐Doyle F. A. , Johnson D. D. , Lowry M. 
Published: August 2016

AbstractIn partial protection management areas such as Recreational Fishing Havens (RFHs) where commercial fishing is prohibited there are fewer sampling methods available for quantifying the relative abundance of species. Consequently, a framework is needed in such areas to decide whether sampling should be based on: (1) fishery‐independent techniques; (2) fishery‐dependent methods that rely on recreational fishery harvests; or (3) a combination of the two. This study compared fishery‐independent data derived from baited remote underwater video stations (BRUVS) and independent fishing surveys (IFS) with fishery‐dependent data based on recreational angler surveys (AS) to identify the fish species that were best enumerated by each method in two Australian RFHs. Each method captured/detected disparate species and each consistently showed correlations with the relative abundance of particular suites of species. The species that were correlated with and best enumerated by BRUVS were Microcanthus strigatus (Cuvier) and Pelates sexlineatus (Qouy & Gaimard); those correlated with IFS were Gerres subfasciatus Cuvier, Girella tricuspidata (Qouy & Gaimard), Mugil cephalus L. and Pomatomus saltatrix (L.); and those correlated with AS were Platycephalus fuscus Cuvier and Acanthopagrus australis (Owen). By identifying the species that were best quantified by each method, this study facilitates accurate monitoring of key species within RFHs.
Movement patterns of gray triggerfish, Balistes capriscus, around artificial reefs in the northern Gulf of Mexico
Authors: Herbig J. L. , Szedlmayer S. T. 
Published: August 2016

AbstractLittle is known about the movement patterns of gray triggerfish, Balistes capriscus Gmelin, in the northern Gulf of Mexico. To examine fine‐scale movements, gray triggerfish (n = 17) were tagged with transmitters and tracked with the VR2W Positioning System from 17 October 2012 to 9 December 2013. Most (76%) tagged fish survived and were tracked for 1–57 weeks. Tagged fish showed significantly larger home ranges and core areas in autumn than winter–spring and during day than night. Seasonal movement patterns were positively correlated with water temperature. Gray triggerfish stayed close to the reef (mean ± SD distance = 35.9 ± 28.4 m) and showed high site fidelity (64%) and high residency (>57 weeks). These patterns emphasise the importance of structured habitat for this species and suggest that artificial reef building in the northern Gulf of Mexico has enhanced this population.
Climate impact assessment of willow energy from a landscape perspective: a Swedish case study
Authors: Hammar Torun , Hansson Per‐Anders , Sundberg Cecilia 
Published: August 2016

AbstractLocally produced bioenergy can decrease the dependency on imported fossil fuels in a region, while also being valuable for climate change mitigation. Short‐rotation coppice willow is a potentially high‐yielding energy crop that can be grown to supply a local energy facility. This study assessed the energy performance and climate impacts when establishing willow on current fallow land in a Swedish region with the purpose of supplying a bio‐based combined heat and power plant. Time‐dependent life cycle assessment (LCA) was combined with geographic information system (GIS) mapping to include spatial variation in terms of transport distance, initial soil organic carbon content, soil texture and yield. Two climate metrics were used [global warming potential (GWP) and absolute global temperature change potential (AGTP)], and the energy performance was determined by calculating the energy ratio (energy produced per unit of energy used). The results showed that when current fallow land in a Swedish region was used for willow energy, an average energy ratio of 30 MJ MJ−1 (including heat, power and flue gas condensation) was obtained and on average 84.3 Mg carbon per ha was sequestered in the soil during a 100‐year time frame (compared with the reference land use). The processes contributing most to the energy use during one willow rotation were the production and application of fertilizers (~40%), followed by harvest (~35%) and transport (~20%). The temperature response after 100 years of willow cultivation was −6·10−16 K MJ−1 heat, which is much lower compared with fossil coal and natural gas (70·10−16 K MJ−1 heat and 35·10−16 K MJ−1 heat, respectively). The combined GIS and time‐dependent LCA approach developed here can be a useful tool in systematic analysis of bioenergy production systems and related land use effects.
Big data for forecasting the impacts of global change on plant communities
Authors: Franklin Janet , Serra‐Diaz Josep M. , Syphard Alexandra D. , Regan Helen M. 
Published: August 2016

AbstractAimPlant distributions and vegetation dynamics underpin key global phenomena, including biogeochemical cycling, ecosystem productivity and terrestrial biodiversity patterns. Aggregated and remotely collected ‘big data’ are required to forecast the effects of global change on plant communities. We synthesize advances in developing and exploiting big data in global change plant ecology, and identify challenges to their effective use in global change studies.LocationGlobal.MethodsWe explored databases, catalogues and registries with respect to their accessibility, geographical and taxonomic extent, sample bias and other types of uncertainty, from the perspective both users and contributors. We identified four kinds of big data needed to predict the impacts of global change on plant populations and communities using spatially explicit models: remotely sensed and other environmental maps, species occurrence records, community composition (plots) and species traits, especially demographics.ResultsDigital environmental maps, including remotely sensed data, are the most mature class of big data discussed herein whereby protocols for archiving, discovering and analysing them have developed over three decades. Species locality records are being aggregated into databases that are easy to search and access, and while methods for addressing uncertainties are a major research focus, better spatial representation is still needed. Plot data from inventories have tremendous potential for monitoring and modelling the impacts of global change on plant communities but tend to be restricted to forests or concentrated in certain geographical areas. Ongoing efforts to aggregate plot and trait data from multiple sources are challenged by their heterogeneous coverage, attributes and protocols and a lack of data standards.Main conclusionsFuture goals include developing systematic frameworks for selecting geospatial data, improving tools for assessing the quality of species occurrence records and increased aggregation and discoverability of plot and trait data. Aggregated data collected by scientists, not sensors, provide more meaningful insights when data collectors are involved in analysis.
Assessing Groundwater Depletion and Dynamics Using GRACE and InSAR: Potential and Limitations
Authors: Castellazzi Pascal , Martel Richard , Galloway Devin L. , Longuevergne Laurent , Rivera Alfonso 
Published: August 2016

AbstractIn the last decade, remote sensing of the temporal variation of ground level and gravity has improved our understanding of groundwater dynamics and storage. Mass changes are measured by GRACE (Gravity Recovery and Climate Experiment) satellites, whereas ground deformation is measured by processing synthetic aperture radar satellites data using the InSAR (Interferometry of Synthetic Aperture Radar) techniques. Both methods are complementary and offer different sensitivities to aquifer system processes. GRACE is sensitive to mass changes over large spatial scales (more than 100,000 km2). As such, it fails in providing groundwater storage change estimates at local or regional scales relevant to most aquifer systems, and at which most groundwater management schemes are applied. However, InSAR measures ground displacement due to aquifer response to fluid‐pressure changes. InSAR applications to groundwater depletion assessments are limited to aquifer systems susceptible to measurable deformation. Furthermore, the inversion of InSAR‐derived displacement maps into volume of depleted groundwater storage (both reversible and largely irreversible) is confounded by vertical and horizontal variability of sediment compressibility. During the last decade, both techniques have shown increasing interest in the scientific community to complement available in situ observations where they are insufficient. In this review, we present the theoretical and conceptual bases of each method, and present idealized scenarios to highlight the potential benefits and challenges of combining these techniques to remotely assess groundwater storage changes and other aspects of the dynamics of aquifer systems.