bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evaluation of a patient with classical Ehlers‐Danlos syndrome due to a 9q34 duplication affecting COL5A1
Authors: Kuroda Yukiko , Ohashi Ikuko , Naruto Takuya , Ida Kazumi , Enomoto Yumi , Saito Toshiyuki , Nagai Jun‐ichi , Kurosawa Kenji 
Published: March 2018

ABSTRACTEhlers‐Danlos syndrome classical type is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24‐year‐old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with Ehlers‐Danlos syndrome classical type. A copy number variant‐calling algorithm from panel sequencing data identified the deletions exons 2–11 and duplications of exons 12–67 within COL5A1. Array comparative genomic hybridization confirmed a 94 kb deletion at 9q34.3 involving exons 2–11 of COL5A1, and a 3.4 Mb duplication at 9q34.3 involving exons 12–67 of COL5A1.
Effect of mesalazine on recurrence of diverticulitis in patients with symptomatic uncomplicated diverticular disease: a meta‐analysis with trial sequential analysis of randomized controlled trials
Authors: Khan R. M. A. , Ali B. , Hajibandeh S. , Hajibandeh S. 
Published: March 2018

AbstractAimhe aim was to investigate the effect of mesalazine on the recurrence of diverticulitis in patients with symptomatic uncomplicated diverticular disease (SUDD).MethodsWe performed a systematic review and conducted a search of electronic information sources to identify all randomized controlled trials (RCTs) investigating the effect of mesalazine on the recurrence of diverticulitis in patients with SUDD. We used the Cochrane tool to assess the quality of included studies. Random effects models were applied to calculate pooled outcome data. Trial sequential analysis was performed to assess the possibility of type I or II errors and to compute the information size required for conclusive meta‐analysis.ResultsWe identified six RCTs which enrolled a total of 1918 patients. There was no difference in the recurrence of diverticulitis between the mesalazine and placebo groups (OR 1.20, 95% CI 0.96–1.50, P = 0.11). A low level of heterogeneity among the studies existed (I2 = 9%, P = 0.36). When the mesalazine dose was ≤ 2 g/day, there was no difference in recurrence rate between the two groups (OR 1.10, 95% CI 0.79–1.54, P = 0.58). When the mesalazine dose was > 2 g/day, the risk of recurrence was higher in the mesalazine group (OR 1.28, 95% CI 1.02–1.62, P = 0.04). The information size was calculated as 2461 patients. Trial sequential analysis showed that the meta‐analysis was conclusive and the risk of type II error was minimal.ConclusionsMesalazine does not prevent the recurrence of diverticulitis in patients with SUDD. Further studies are required to investigate the role of mesalazine as an adjunct to other medical agents in the prevention of diverticulitis in patients with SUDD.
Increasing disturbance demands new policies to conserve intact forest
Authors: Müller Jörg , Noss Reed F. , Thorn Simon , Bässler Claus , Leverkus Alexandro B. , Lindenmayer David 
Published: March 2018

AbstractOngoing controversy over logging the ancient Białowieża Forest in Poland symbolizes a global problem for policies and management of the increasing proportion of the earth's intact forest that is subject to postdisturbance logging. We review the extent of, and motivations for, postdisturbance logging in protected and unprotected forests globally. An unprecedented level of logging in protected areas and other places where green‐tree harvest would not normally occur is driven by economic interests and a desire for pest control. To avoid failure of global initiatives dedicated to reducing the loss of species, five key policy reforms are necessary: (1) salvage logging must be banned from protected areas; (2) forest planning should address altered disturbance regimes for all intact forests to ensure that significant areas remain undisturbed by logging; (3) new kinds of integrated analyses are needed to assess the potential economic benefits of salvage logging against its ecological, economic, and social costs; (4) global and regional maps of natural disturbance regimes should be created to guide better spatiotemporal planning of protected areas and undisturbed forests outside reserves; and (5) improved education and communication programs are needed to correct widely held misconceptions about natural disturbances.
Contrasting responses in community structure and phenology of migratory and non‐migratory pollinators to urbanization
Authors: Luder Katrin , Knop Eva , Menz Myles H. M. 
Published: March 2018

AbstractAimAnthropogenic landscape change, such as urbanization, can affect community structure and ecological interactions. Furthermore, changes in ambient temperature and resource availability due to urbanization may affect migratory and non‐migratory species differently. However, the response of migratory species to urbanization is poorly investigated, and knowledge for invertebrates in particular is lacking. Our aim was to investigate whether there was a shift in community structure and phenology of hoverflies in urban landscapes, depending on migratory status.LocationSwitzerland.MethodsUsing a paired design, we compared urban and rural landscapes to investigate the impact of urbanization on the abundance, diversity and phenology of hoverflies. Furthermore, we tested whether migratory and non‐migratory species responded differently to urbanization.ResultsWe observed a difference in the response of migratory and non‐migratory hoverfly communities. Although the abundance of hoverflies was higher in the rural ecosystem, driven by a high abundance of migratory species, there was no difference in species richness between the land use types. However, the community structure of non‐migratory species was significantly different between urban and rural ecosystems. The phenology of hoverflies differed between the two ecosystems, with an earlier appearance in the year of migratory species in urban landscapes.Main conclusionsTo our knowledge, this is the first study to investigate the response of migratory insect communities to urbanization. We demonstrated that migratory and non‐migratory hoverflies respond differently to urbanization. This highlights the importance of differentiating between trait and mobility groups to understand community assemblage patterns in anthropogenic landscapes. The differences in phenology supports the growing evidence that urbanization not only affects the phenology of vegetation, but also affects the higher trophic levels. Changes in the phenology and community composition of species as a result of anthropogenic landscape change may have important implications for the maintenance of key ecosystem functions, such as pollination.
Field survey, isolation, identification and pathogenicity of Phytophthora species associated with a Mediterranean‐type tree species
Authors: Croeser L. , Paap T. , Calver M. C. , Andrew M. E. , Hardy G. E. St J. , Burgess T. I. 
Published: March 2018

SummaryCorymbia calophylla (marri), a keystone tree species in the global biodiversity hot spot of southwestern Australia, is suffering decline and mortality associated with a canker disease caused by the endemic fungus Quambalaria coyrecup. Phytophthora species are frequently isolated from the rhizosphere of C. calophylla, and a hypothesis is that Phytophthora root infection is predisposing C. calophylla to this endemic canker pathogen. Field surveys were conducted in both anthropogenically disturbed and undisturbed C. calophylla stands, from where a total of 100 rhizosphere soil samples, from both healthy and cankered trees, were collected. Phytophthora species were isolated from 26% of the samples collected, with Phytophthora incidence significantly higher on disturbed stands than in natural forests (73% and 27%, respectively). Five Phytophthora species were recovered, including P. cinnamomi, P. elongata, P. multivora, P. pseudocryptogea and P. versiformis. Under‐bark inoculations with the Phytophthora isolates caused significant lesion lengths in excised C. calophylla stems. Corymbia calophylla response to pot infestation trials in the glasshouse varied between Phytophthora species and isolates, with isolates of P. cinnamomi and P. multivora causing a significant reduction in seedling root volume and often leading to seedling death. This study demonstrates that root disease caused by Phytophthora species, especially P. cinnamomi and P. multivora, has the ability to adversely affect C. calophylla health. This study leads the way to do a dual inoculation trial with the canker pathogen Q. coyrecup, and different Phytophthora species to investigate if Phytophthora root infection predisposes C. calophylla to this canker disease.
Contrast gain control and retinogeniculate communication
Authors: Alitto Henry J. , Rathbun Daniel L. , Fisher Tucker G. , Alexander Prescott C. , Usrey W. Martin 
Published: March 2018

AbstractVisual information processed in the retina is transmitted to primary visual cortex via relay cells in the lateral geniculate nucleus (LGN) of the dorsal thalamus. Although retinal ganglion cells are the primary source of driving input to LGN neurons, not all retinal spikes are transmitted to the cortex. Here, we investigate the relationship between stimulus contrast and retinogeniculate communication and test the hypothesis that both the time course and strength of retinogeniculate interactions are dynamic and dependent on stimulus contrast. By simultaneously recording the spiking activity of synaptically connected retinal ganglion cells and LGN neurons in the cat, we show that the temporal window for retinogeniculate integration and the effectiveness of individual retinal spikes are inversely proportional to stimulus contrast. This finding provides a mechanistic understanding for the phenomenon of augmented contrast gain control in the LGN—a nonlinear receptive field property of LGN neurons whereby response gain during low‐contrast stimulation is enhanced relative to response gain during high‐contrast stimulation. In addition, these results support the view that network interactions beyond the retina play an essential role in transforming visual signals en route from retina to cortex.
Synchronization in the prefrontal–striatal circuit tracks behavioural choice in a go–no‐go task in rats
Authors: Stubbendorff Christine , Molano‐Mazon Manuel , Young Andrew M.J. , Gerdjikov Todor V. 
Published: March 2018

AbstractRodent striatum is involved in sensory‐motor transformations and reward‐related learning. Lesion studies suggest dorsolateral striatum, dorsomedial striatum and nucleus accumbens underlie stimulus–response transformations, goal‐directed behaviour and reward expectation, respectively. In addition, prefrontal inputs likely control these functions. Here, we set out to study how reward‐driven behaviour is mediated by the coordinated activity of these structures in the intact brain. We implemented a discrimination task requiring rats to either respond or suppress responding on a lever after the presentation of auditory cues in order to obtain rewards. Single unit activity in the striatal subregions and pre‐limbic cortex was recorded using tetrode arrays. Striatal units showed strong onset responses to auditory cues paired with an opportunity to obtain reward. Cue‐onset responses in both striatum and cortex were significantly modulated by previous errors suggesting a role of these structures in maintaining appropriate motivation or action selection during ongoing behaviour. Furthermore, failure to respond to the reward‐paired tones was associated with higher pre‐trial coherence among striatal subregions and between cortex and striatum suggesting a task‐negative corticostriatal network whose activity may be suppressed to enable processing of reward‐predictive cues. Our findings highlight that coordinated activity in a distributed network including both pre‐limbic cortex and multiple striatal regions underlies reward‐related decisions.
Neuromelanin‐sensitive magnetic resonance imaging features of the substantia nigra and locus coeruleus in de novo Parkinson's disease and its phenotypes
Authors: Wang J. , Li Y. , Huang Z. , Wan W. , Zhang Y. , Wang C. , Cheng X. , Ye F. , Liu K. , Fei G. , Zeng M. , Jin L. 
Published: March 2018

Background and purposeNeuromelanin of the brainstem, which is considered a marker of neurodegeneration in Parkinson's disease (PD), can be detected by T1‐weighted neuromelanin‐sensitive magnetic resonance imaging (NM‐MRI). Our aim was to investigate the NM‐MRI features of de novo PD and to determine whether these features are associated with motor and non‐motor symptoms in de novo PD patients.MethodsFifty‐one patients with de novo PD (Hoehn and Yahr stage 1–2) and 28 healthy controls were recruited. All subjects underwent clinical and MRI examinations including an NM‐MRI sequence. The width and contrast‐to‐noise ratio (CNR) of the substantia nigra pars compacta (SNc) and the CNR of the locus coeruleus (LC) were measured on NM‐MRI images.ResultsBoth the width and CNR values of the high intensity signals in the SNc were significantly decreased in the lateral, central and medial SNc parts in de novo PD patients compared to control subjects. The changes in the SNc on NM‐MRI were not significantly different between the motor subgroups. The CNR values of the left LC were significantly lower in the PD group than in the control group. Specifically, the subtype of PD patients with depressive symptoms exhibited a significantly lower CNR in the left LC than the control group and PD patients without depressive symptoms.ConclusionsSubstantia nigra pars compacta neuromelanin changes occur across both motor and non‐motor (with and without depressive symptoms) subtypes, whilst LC changes are more notable in PD patients with depressive symptoms. Our results may provide new evidence to understand the pathophysiology of non‐motor symptoms in PD.
Beyond the physico‐chemical barrier: Glycerol and xylitol markedly yet differentially alter gene expression profiles and modify signalling pathways in human epidermal keratinocytes
Authors: Páyer Edit , Szabó‐Papp Judit , Ambrus Lídia , Szöllősi Attila Gábor , Andrási Mónika , Dikstein Shabtay , Kemény Lajos , Juhász István , Szegedi Andrea , Bíró Tamás , Oláh Attila 
Published: March 2018

AbstractPolyols (e.g. glycerol, xylitol) are implicated as moisturizers of the skin and other epithelial tissues. However, we lack information about their exact cellular mechanisms and their effects on the gene expression profiles. Therefore, in this study, we aimed at investigating the effects of glycerol and xylitol on human epidermal keratinocytes. The polyols (identical osmolarities; xylitol: 0.0045%‐0.45%; glycerol: 0.0027%‐0.27%) did not alter cellular viability or intracellular calcium concentration. However, they exerted differential effects on the expression of certain genes and signalling pathways. Indeed, both polyols up‐regulated the expression of filaggrin, loricrin, involucrin and occludin; yet, xylitol exerted somewhat more profound effects. Moreover, while both polyols stimulated the MAPK pathway, only xylitol induced the activation‐dependent translocation of protein kinase Cδ, a key promoter of epidermal differentiation. Finally, in various keratinocyte inflammation models, both polyols (albeit with different efficacies) exerted anti‐inflammatory effects. Taken together, these data strongly suggest that glycerol and xylitol differentially modulate expressions of multiple genes and activities of signalling pathways in epidermal keratinocytes. Thus, our findings invite clinical trials to explore the applicability and the impact of a combined glycerol‐xylitol therapy in the management of various skin conditions.
Systematic Review and Meta‐analysis of Stepping Stones Triple P for Parents of Children with Disabilities
Authors: Ruane AIlbhe , Carr Alan 
Published: March 2018

The aim of this systematic review and meta‐analysis was to examine the effectiveness of Stepping Stones Triple P (SSTP) parent training programs on child behavior problems and parenting outcomes in families of children with developmental disabilities. Sixteen suitable studies including data from over 900 families were identified in a search for English language published and unpublished controlled outcome studies. SSTP has five levels on a graded continuum of increasing intensity targeting families with differing degrees of treatment need from low intensity media‐based parenting information campaigns at level 1, through brief interventions at levels 2 and 3, to more intensive parent training and family therapy interventions at levels 4 and 5. Analyses were conducted on the combination of all levels of SSTP and separately for each level. For combined levels, significant overall effect sizes were found for parent‐reported child problems (d = 0.46), researcher observed child behavior (d = 0.51), parenting style (d = 0.70), parenting satisfaction/self‐efficacy (d = 0.44), parental adjustment (d = 0.27), and coparental relationship (d = 0.26), but not researcher‐observed parent behavior. Strong support was found for level 4 SSTP as an effective intervention for improving child and parent outcomes in families of children with disabilities who have clinically significant problems. Less intensive SSTP interventions for cases with circumscribed difficulties yielded fewer significant treatment effects, and there were relatively few studies of such interventions.
The influence of drought on flow‐ecology relationships in Ozark Highland streams
Authors: Lynch Dustin T. , Leasure Douglas R. , Magoulick Daniel D. 
Published: March 2018

Abstract

Drought and summer drying can have strong effects on abiotic and biotic components of stream ecosystems. Environmental flow‐ecology relationships may be affected by drought and drying, adding further uncertainty to the already complex interaction of flow with other environmental variables, including geomorphology and water quality.

Environment–ecology relationships in stream communities in Ozark Highland streams, USA, were examined over two years with contrasting environmental conditions, a drought year (2012) and a flood year (2013). We analysed fish, crayfish and benthic macroinvertebrate assemblages using two different approaches: (1) a multiple regression analysis incorporating predictor variables related to habitat, water quality, geomorphology and hydrology and (2) a canonical ordination procedure using only hydrologic variables in which forward selection was used to select predictors that were most related to our response variables.

Reach‐scale habitat quality and geomorphology were found to be the most important influences on community structure, but hydrology was also important, particularly during the flood year. We also found substantial between‐year variation in environment–ecology relationships. Some ecological responses differed significantly between drought and flood years, while others remained consistent. We found that magnitude was the most important flow component overall, but that there was a shift in relative importance from low flow metrics during the drought year to average flow metrics during the flood year, and the specific metrics of importance varied markedly between assemblages and years.

Findings suggest that understanding temporal variation in flow‐ecology relationships may be crucial for resource planning. While some relationships show temporal variation, others are consistent between years. Additionally, different kinds of hydrologic variables can differ greatly in terms of which assemblages they affect and how they affect them. Managers can address this complexity by focusing on relationships that are temporally stable and flow metrics that are consistently important across groups, such as flood frequency and flow variability.
Quantifying climate–growth relationships at the stand level in a mature mixed‐species conifer forest
Authors: Teets Aaron , Fraver Shawn , Weiskittel Aaron R. , Hollinger David Y. 
Published: March 2018

AbstractA range of environmental factors regulate tree growth; however, climate is generally thought to most strongly influence year‐to‐year variability in growth. Numerous dendrochronological (tree‐ring) studies have identified climate factors that influence year‐to‐year variability in growth for given tree species and location. However, traditional dendrochronology methods have limitations that prevent them from adequately assessing stand‐level (as opposed to species‐level) growth. We argue that stand‐level growth analyses provide a more meaningful assessment of forest response to climate fluctuations, as well as the management options that may be employed to sustain forest productivity. Working in a mature, mixed‐species stand at the Howland Research Forest of central Maine, USA, we used two alternatives to traditional dendrochronological analyses by (1) selecting trees for coring using a stratified (by size and species), random sampling method that ensures a representative sample of the stand, and (2) converting ring widths to biomass increments, which once summed, produced a representation of stand‐level growth, while maintaining species identities or canopy position if needed. We then tested the relative influence of seasonal climate variables on year‐to‐year variability in the biomass increment using generalized least squares regression, while accounting for temporal autocorrelation. Our results indicate that stand‐level growth responded most strongly to previous summer and current spring climate variables, resulting from a combination of individualistic climate responses occurring at the species‐ and canopy‐position level. Our climate models were better fit to stand‐level biomass increment than to species‐level or canopy‐position summaries. The relative growth responses (i.e., percent change) predicted from the most influential climate variables indicate stand‐level growth varies less from to year‐to‐year than species‐level or canopy‐position growth responses. By assessing stand‐level growth response to climate, we provide an alternative perspective on climate–growth relationships of forests, improving our understanding of forest growth dynamics under a fluctuating climate.