bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2
Authors: van den Boogaard M.L. , Thijssen P.E. , Aytekin C. , Licciardi F. , Kıykım A.A. , Spossito L. , Dalm V.A.S.H. , Driessen G.J. , Kersseboom R. , de Vries F. , van Ostaijen‐ten Dam M.M. , Ikinciogullari A. , Dogu F. , Oleastro M. , Bailardo E. , Daxinger L. , Nain E. , Baris S. , van Tol M.J.D. , Weemaes C. , van der Maarel S.M. 
Published: January 2017

BackgroundImmunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare, genetically heterogeneous, autosomal recessive disorder. Patients suffer from recurrent infections caused by reduced levels or absence of serum immunoglobulins. Genetically, 4 subtypes of ICF syndrome have been identified to date: ICF1 (DNMT3B mutations), ICF2 (ZBTB24 mutations), ICF3 (CDCA7 mutations), and ICF4 (HELLS mutations).AimTo study the mutation spectrum in ICF syndrome.Materials and methodsGenetic studies were performed in peripheral blood lymphocyte DNA from suspected ICF patients and family members.ResultsWe describe 7 ICF1 patients and 6 novel missense mutations in DNMT3B, affecting highly conserved residues in the catalytic domain. We also describe 5 new ICF2 patients, one of them carrying a homozygous deletion of the complete ZBTB24 locus. In a meta‐analysis of all published ICF cases, we observed a gender bias in ICF2 with 79% male patients.DiscussionThe biallelic deletion of ZBTB24 provides strong support for the hypothesis that most ICF2 patients suffer from a ZBTB24 loss of function mechanism and confirms that complete absence of ZBTB24 is compatible with human life. This is in contrast to the observed early embryonic lethality in mice lacking functional Zbtb24. The observed gender bias seems to be restricted to ICF2 as it is not observed in the ICF1 cohort.ConclusionOur study expands the mutation spectrum in ICF syndrome and supports that DNMT3B and ZBTB24 are the most common disease genes.
North American Trade Policy for Agriculture and Forestry: Can Economics Trump Politics?
Authors: Veeman Michele 
Published: January 2017

Despite overwhelming evidence of benefits overall from lower barriers to trade in goods and services, the number of trade restrictions continues to grow. In some nations, nationalistic politicians who threaten to build walls between nations and reject both new and established trade treaties have gained considerable public support by fanning the resentment and anger of those left behind in a globalizing world. Trade and immigration have incorrectly been blamed. Instead, it should be recognized that economic growth has been fueled by technological and institutional changes that have been accelerated by trade and investment. While these changes improve standards of living overall and create new job opportunities, they also displace workers in high cost regions and industries. Perceptions of the fairness of distribution of gains from trade are likely to be improved where public policy effectively assists labor adjustment and mandates socially acceptable employment standards and safety nets. Possible ways to encourage improvements in communication of the benefits of growth that arise from trade and globalization are suggested.Malgré des preuves accablantes démontrant les avantages généraux provenant de la réduction des barrières au commerce de biens et services, le nombre de ces restrictions continue d'augmenter. Certaines nations oú des politiciens nationalistes menacent la construction de murs frontaliers et rejettent les accords de commerce, autant nouveaux que déjà en vigueur, reçoivent un soutien public considérable en encourageant l'animosité et la colère de ceux qui se sentent exclus de la mondialisation. Le commerce et l'immigration portent sans raison le blâme. Il faut plutôt reconnaître la croissance économique nourrie par les changements technologiques et institutionnels, ces derniers accélérés par le commerce et l'investissement. Alors que ces changements améliorent, en général, les niveaux de vie et créent de nouvelles possibilités d'emplois, ils délogent aussi les travailleurs au sein d'industries à coût élevé. La perception de justice dans la répartition des gains de commerce pourrait s'améliorer là où les politiques publiques appuient efficacement les ajustements à la main‐d'œuvre et mandatent des normes de travail et des dispositions de soutien acceptables pour la société. L'article propose des moyens pour encourager des améliorations à la communication des avantages de la croissance provoquée par le commerce et la mondialisation.
A defined mix of cytokines mimics conditioned medium from cultures of bone marrow‐derived mesenchymal stem cells and elicits bone regeneration
Authors: Katagiri Wataru , Sakaguchi Kohei , Kawai Takamasa , Wakayama Yukiko , Osugi Masashi , Hibi Hideharu 
Published: January 2017

AbstractObjectivesWe previously reported that conditioned medium from cultures of bone marrow‐derived mesenchymal stem cells have strong potential to accelerate bone regeneration. We now examine in vitro and in vivo a defined cytokine cocktail that mimics the effects of conditioned medium on bone regeneration.Materials and methodsA cocktail of recombinant human insulin‐like growth factor‐1, vascular endothelial growth factor‐A and transforming growth factor‐β1 was prepared at concentrations similar to those in conditioned medium. Conversely, these cytokines were depleted from conditioned medium, and the effects of the cocktail, the conditioned medium and the cytokine‐depleted conditioned medium on bone regeneration were evaluated in vitro and in vivo.ResultsThe cytokine cocktail and conditioned medium enhanced cell migration, tube formation, and expression of osteogenic and angiogenic genes. Depletion of cytokines significantly decreased the effects of conditioned medium in vitro. Similarly, the cytokine cocktail and conditioned medium, but not cytokine‐depleted medium, increased bone regeneration in damaged rat calvarial bone. Immunohistochemistry indicated that the cytokine cocktail and conditioned medium strongly enhanced recruitment of endogenous stem cells and endothelial cells.ConclusionsThe data indicate that the cytokine cocktail and conditioned medium enhance the migration of stem cells and endothelial cells to damaged bone, and elicit osteogenesis and angiogenesis.
Floods affect the abundance of invasive Impatiens glandulifera and its spread from river corridors
Authors: Čuda Jan , Rumlerová Zuzana , Brůna Josef , Skálová Hana , Pyšek Petr 
Published: January 2017

AbstractAimRiparian habitats are amongst the most invaded ecosystems world‐wide. The great abundance of invasive species in river corridors is attributed to the efficient transport of alien species’ propagules and reduced competition from native plants due to regular flooding. Once an invasive species has become established, river corridors can serve as stepping stones for spread into other habitats. We have chosen the Himalayan balsam Impatiens glandulifera Royle, highly invasive annual in riparian areas, as a model for spread of invasive species from linear river corridors.LocationCentral Europe.MethodsWe mapped its distribution and recorded its abundance in over 1200 patches along four rivers in central Europe, differing in the time of balsam's introduction (1900–1995). The patches were characterized in terms of the distance from the riverbank, height above the river surface, degree of soil disturbance and flooding regime.ResultsThe patches at sites subject to flooding had twice as many individuals as those that were not subject to flooding, regardless of their distance from the riverbank and height above the river surface. There was a strong effect of the river identity, with river invaded 20 years ago being less infested than those invaded earlier. The distance from the riverbank at which the populations occurred differed and did not depend on river identity/residence time. The patches in tributaries were on average two times further from the bank of the main river than those located elsewhere.Main conclusionsFlooding is an important factor affecting the abundance of I. glandulifera, and accounts for its spread and dominance along river corridors probably due to spreading the seeds, increasing nutrient availability and disturbing native vegetation. It is likely that the number of I. glandulifera populations will increase in the future, especially along small water courses.
Leadership, Dominance, and Preeminence in a Channel Structure with a Common Retailer
Authors: Fang Fang , Gurnani Haresh , Natarajan Harihara Prasad 
Published: January 2017

ABSTRACTAs firms embrace collaborative principles, partners of varying strengths and standing are coming together to deliver products effectively to consumers. In a two‐tier collaborative channel, a partner's relative standing is manifest in the order in which wholesale and retail prices are determined; in turn, standing influences a partner's ability to achieve profits. We propose a framework, based on two factors that specify the strength of partners across channel tiers (channel leadership) and within a tier (echelon dominance) and together determine a partner's standing in the pricing process, to effectively study various channel strength scenarios. Our analysis of Stackelberg games corresponding to these scenarios reveals interesting insights regarding the impact of channel leadership and echelon dominance, both individually and jointly. For instance, we show that the presence of a dominant player in the upstream manufacturing tier benefits both the dominant and the weak manufacturers. The leadership‐dominance framework also allows us to study the effect of a retailer's sequencing of its pricing of the two manufacturers’ products. By embedding the retailer's timing choices in channel strength scenarios, we find that both the retailer and weak manufacturer prefer that the retailer set prices for the two products simultaneously; in contrast, the echelon‐dominant manufacturer benefits from the retailer sequentially pricing the manufacturers’ products. Our analysis also covers preeminent channel leaders that control both wholesale and retail prices, finding that preeminent partners achieve significant gains and consumers benefit from low retail prices. Moreover, the weak manufacturer benefits from the presence of a preeminent manufacturer.
Intensive upper‐ and lower‐extremity training for children with bilateral cerebral palsy: a quasi‐randomized trial
Authors: Bleyenheuft Yannick , Ebner‐Karestinos Daniela , Surana Bhavini , Paradis Julie , Sidiropoulos Alexis , Renders Anne , Friel Kathleen M , Brandao Marina , Rameckers Eugene , Gordon Andrew M 
Published: January 2017

AimAn approach that simultaneously engages both the upper and lower extremities, hand–arm bimanual intensive therapy including lower extremity (HABIT‐ILE), has recently demonstrated improvements in upper and lower extremities in children with unilateral cerebral palsy (CP). It is not known whether children with bilateral CP would benefit from this approach. The aim of this study was to examine the efficacy of HABIT‐ILE in children with bilateral CP.MethodA quasi‐randomized trial design was used, whereby 20 participants (age 6–15y, Gross Motor Function Classification System levels II–IV, Manual Ability Classification System levels I–III) were assigned to a treatment (HABIT‐ILE) or a comparison group in the order in which they were enrolled. Children in the HABIT‐ILE group were assessed before and after 84 hours of intervention over 13 days, as well as at 3 months’ follow‐up. Children in the comparison group were assessed at the same time points. Children in both groups were assessed using the Gross Motor Function Measure (GMFM‐66) and ABILHAND‐Kids (primary measures), and six secondary measures.ResultsA group×test session interaction indicated significant improvements in the HABIT‐ILE group as assessed by the GMFM‐66, lower‐extremity performance (6‐Minute Walk Test; Pediatric Balance Scale), functional upper‐extremity abilities (ABILHAND‐Kids/Pediatric Evaluation of Disability Inventory), and the dexterity of the less affected upper extremity.ConclusionHABIT‐ILE is efficacious for improving both upper‐ and lower‐extremity function in children with bilateral CP.
Impact of insulin sensitivity, beta‐cell function and glycaemic control on initiation of second‐line glucose‐lowering treatment in newly diagnosed type 2 diabetes
Authors: Rathmann Wolfgang , Strassburger Klaus , Bongaerts Brenda , Bobrov Pavel , Kuss Oliver , Müssig Karsten , Markgraf Daniel F. , Szendroedi Julia , Herder Christian , Roden Michael ,   for the GDS Group
Published: January 2017

AimsThe aim of this study was to investigate whether insulin sensitivity, beta‐cell function or glycaemic control at diagnosis predict initiation of second‐line treatment in newly diagnosed type 2 diabetes.Research design and methodsType 2 diabetes patients (n = 138) undergoing initial metformin monotherapy (age [mean ± SD], 52 ± 10 years; 67% males; BMI, 32 ± 6 kg/m2) from the prospective German Diabetes Study cohort (n = 398) were included. Patients remained under care of their general practitioners, yet underwent detailed metabolic characterization after diabetes diagnosis for study purposes (hyperinsulinemic‐euglycemic clamp,
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value; i.v. glucose tolerance test, incremental C‐peptide area under the curve0‐60 minutes, CP iAUC). The associations of baseline
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value, CP iAUC, fasting glucose and HbA1c with time to second‐line therapy were assessed using parametric survival analysis, accounting for interval‐censoring.ResultsSecond‐line treatment was initiated in 26% of newly diagnosed type 2 diabetes patients within the first 3.3 years after diagnosis, using mostly DPP‐4 inhibitors or GLP‐1 receptor agonists (64%). In age‐, sex‐ and BMI‐adjusted survival models, higher baseline HbA1c and fasting glucose values were associated with earlier treatment intensification. Lower baseline
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value and C‐peptide secretion (CP iAUC) were also related to an earlier initiation of second‐line treatment. In the best multivariable model, baseline HbA1c ≥ 7% (hazard ratio, HR; 95% CI: 3.18; 1.35‐7.50) and fasting glucose ≥140 mg/dL (HR, 2.45; 95% CI, 1.04‐5.78) were associated with shorter time to second‐line therapy, adjusting for age, sex and BMI.ConclusionsBaseline hyperglycaemia is a strong predictor of requirement of early intensification of glucose‐lowering therapy in newly diagnosed type 2 diabetes.
Viral encephalitis after haplo‐identical hematopoietic stem cell transplantation: Causative viral spectrum, characteristics, and risk factors
Authors: Zhang Xiao‐Hui , Zhang Jia‐Min , Han Wei , Chen Huan , Chen Yu‐Hong , Wang Feng‐Rong , Wang Jing‐Zhi , Zhang Yuan‐Yuan , Mo Xiao‐Dong , Chen Yao , Wang Yu , Chang Ying‐Jun , Xu Lan‐Ping , Liu Kai‐Yan , Huang Xiao‐Jun 
Published: January 2017

AbstractObjectiveTo retrospectively identify characteristics and risk factors of viral encephalitis (VE) in patients who underwent a haplo‐identical hematopoietic stem cell transplant (HSCT).MethodsA nested case‐control study was designed. Cases with VE and controls were identified from a cohort composed of 1274 patients who underwent a haplo‐identical HSCT from 2012 to 2015.ResultsVE was identified in 30 patients (2.4%). The median time from HSCT to diagnosis was 144.5 days. The viruses detected included RSV‐B (43.3%), BKV (23.3%), more than one virus (10%), cytomegalovirus (CMV) (6.7%), RSV‐A (6.7%), HSV (3.3%), HHV‐6 (3.3%), and CVB3 (3.3%). Alterations of consciousness and seizures were the most frequently presented symptoms. Neuroimaging detected abnormalities in 19 (76%) patients. The cerebral spinal fluid cell count, protein, and glucose concentration were elevated in eight (26.7%), 18(60%), and nine (30%) patients, respectively. The treatment efficacy and prognoses varied considerably based on the different causative viruses. Multivariate analyses revealed that acute graft‐versus‐host disease (grade III‐IV), CMV viremia, and engraftment syndrome were significantly and independently associated with VE. The cumulative mortality rate was significantly higher in patients suffering from VE than in the controls.ConclusionCharacteristics, such as onset time, response to treatment, and outcome, varied based on the different causative viruses.
Multi‐mode fluctuating selection in host–parasite coevolution
Authors: Ashby Ben , Boots Mike 
Published: January 2017

AbstractUnderstanding fluctuating selection is important for our understanding of patterns of spatial and temporal diversity in nature. Host–parasite theory has classically assumed fluctuations either occur between highly specific genotypes (matching allele: MA) or from specialism to generalism (gene‐for‐gene: GFG). However, while MA can only generate one mode of fluctuating selection, we show that GFG can in fact produce both rapid ‘within‐range’ fluctuations (among genotypes with identical levels of investment but which specialise on different subsets of the population) and slower cycling ‘between ranges’ (different levels of investment), emphasising that MA is a subset of GFG. Our findings closely match empirical observations, although sampling rates need to be high to detect these novel dynamics empirically. Within‐range cycling is an overlooked process by which fluctuating selection can occur in nature, suggesting that fluctuating selection may be a more common and important process than previously thought in generating and maintaining diversity.
Global exposure of carnivores to roads
Authors: Ceia‐Hasse Ana , Borda‐de‐Água Luís , Grilo Clara , Pereira Henrique M. 
Published: January 2017

AbstractAimLand‐use change is a major threat to biodiversity globally. Roads cause direct mortality and limitation of individual movements, which may isolate populations and affect their viability in the long term. Here we provide the first comprehensive global assessment of the exposure of terrestrial mammalian carnivores to roads using an integrated modelling framework.LocationGlobal.MethodsWe estimated critical road densities and critical patch sizes for each species based on a spatially explicit model and life‐history traits. We calculated the distribution of landscape fragment sizes for each carnivore species by intersecting global road density with each species range. The proportion of a species’ geographical range with fragments below the critical patch size is used as an index of the vulnerability to roads.ResultsWe found that the carnivores expected to be most exposed to roads belong to families Felidae, Ursidae, Mustelidae, Canidae and Procyonidae. Approximately one‐third of the species most affected have not been identified by the IUCN as threatened by roads. Our model projects time to extinction that may be as low as one century for some species, such as the endangered Iberian lynx. Species are expected to be more exposed in areas with medium to high road density but, surprisingly, also in areas where road density is relatively low. Hotspots of the number of species locally endangered by roads occur in North America and Asia.Main conclusionsOur results suggest the need to reassess the status and threats of those species that have not been previously recognized as strongly affected by roads. Our framework can be applied at different spatial scales, to assess the effects of the development of the road network and inform prioritization schemes for road building, and to identify areas for conservation, and species requiring particular mitigation and restoration measures.
The indirect role of species‐level factors in biological invasions
Authors: Peoples Brandon K. , Goforth Reuben R. 
Published: January 2017

AbstractAimBiological invasions are driven by factors related to species, locations and events. Species‐level factors (namely functional traits) often distinguish successful invaders from other groups of species in trait‐only analyses. However, traits are routinely found to be much less important than event‐level (e.g. propagule pressure) or location‐level (e.g. abiotic or congeneric effects) factors when included in the same model. We hypothesized that this rift exists largely because traits have (often overlooked) indirect effects that affect invasion success by influencing other mechanisms.LocationGlobal.MethodsWe developed a conceptual path diagram hypothesizing indirect effects on invasion success of species traits directly affecting (1) native range size, (2) propagule pressure, and (3) climate matching between native and non‐native ranges. We used structural equation modelling to evaluate our hypothesis using open‐access datasets on: (1) the naturalization success of non‐nativePinusin New Zealand (McGregoret al., 2012,Diversity and Distributions,18, 1013–1023), and (2) the global establishment success of non‐native reptiles (Mahoneyet al., 2015,Diversity and Distributions,21, 64–74). Both these studies found little to no direct importance of traits on invasion success.ResultsOur analyses revealed indirect effects of species traits and native range size on invasion success. Traits indirectly affectedPinusnaturalization success and reptile establishment success by affecting introduction effort and native range size. Consistent with the original analyses, traits had little measurable direct effect on invasion success.Main conclusionsSpecies‐level factors have both direct and indirect roles in biological invasions. Consideration of the indirect effects of functional traits may help to reconcile disparities in findings on the relative role of traits versus other contributors to the invasion process.
Exploring the literary map: An analytical review of online literary mapping projects
Authors: Luchetta Sara 
Published: January 2017

AbstractWith the improvement in digital mapping technologies and their accessibility, a great potential for the mapping of new things is emerging, as is the case with literary mapping. Drawing from a manifold theoretical framework, this article aims to involve readers from different fields of study in the complexity of literary cartography in the digital era. Starting from recent studies regarding the relationships between literature and cartography and from the ontogenetic turn in map studies, the article examines digital literary mapping projects where cartographic representations are produced by readers as analytical tools and/or as reading practices for literary texts. In order to uncover the trends of literary mappings, the paper focuses on three different processes/elements of the practice: projects' processes of data collection, the tools used to map out texts, and the developers of the projects. Beyond involving the reader with the state of this practice, the paper aims at providing hints for future literary mapping practices.
Ablation resistance of SiC‐modified ZrC coating prepared by SAPS for SiC‐coated carbon/carbon composites
Authors: Jia Yujun , Li Hejun , Sun Jiajia , Li Lu , Fu Qiangang 
Published: January 2017

AbstractThis study evaluated the ablation resistance of ZrC/SiC coating for carbon/carbon (C/C) composites at different temperatures and heat fluxes, which improved the researches on ultra‐high temperature oxidation of ZrC/SiC system. Results showed that the protection of coating depended on temperature and heat flux. Ablation test for 120 seconds under heat flux of 2.4 MW/m2 at 2270°C revealed a good ablation resistance, with the linear ablation rate reduced by 96.4% and the mass gain rate increased by 383.3% compared with those of pure ZrC coating. The good ablation resistance was attributed to the formation of dense oxide scale surface. SiC could improve the compactness of the oxide scale at this temperature by forming SiO2. A dense scale could not form at 2105°C after ablation for 120 seconds, resulting in a dissatisfactory ablation resistance of the coating. After ablation for 120 seconds at 1738°C, the coating was integrated due to the protection of glassy SiO2 encapsulated ZrO2. The coating could not resist the strong shear force from the flame at heat flux of 4.2 MW/m2 and was severely damaged after ablation for 60 seconds.