bluuebunny/crossref_metadata_2025_split huggingface dataset:
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
Authors: Ufartes Roser , Berger Hanna , Till Katharina , Salinas Gabriela , Sturm Marc , Altmüller Janine , Nürnberg Peter , Thiele Holger , Funke Rudolf , Apeshiotis Neophytos , Langen Hendrik , Wollnik Bernd , Borchers Annette , Pauli Silke 
Published: May 2020

AbstractWe report truncating de novo variants in specific exons of FBRSL1 in three unrelated children with an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. The function of FBRSL1 is largely unknown. Interestingly, mutations in the FBRSL1 paralogue AUTS2 lead to an intellectual disability syndrome (AUTS2 syndrome). We determined human FBRSL1 transcripts and describe protein-coding forms by Western blot analysis as well as the cellular localization by immunocytochemistry stainings. All detected mutations affect the two short N-terminal isoforms, which show a ubiquitous expression in fetal tissues. Next, we performed a Fbrsl1 knockdown in Xenopus laevis embryos to explore the role of Fbrsl1 during development and detected craniofacial abnormalities and a disturbance in neurite outgrowth. The aberrant phenotype in Xenopus laevis embryos could be rescued with a human N-terminal isoform, while the long isoform and the N-terminal isoform containing the mutation p.Gln163* isolated from a patient could not rescue the craniofacial defects caused by Fbrsl1 depletion. Based on these data, we propose that the disruption of the validated N-terminal isoforms of FBRSL1 at critical timepoints during embryogenesis leads to a hitherto undescribed complex neurodevelopmental syndrome.
A modelling framework for coupled hydrogen diffusion and mechanical behaviour of engineering components
Authors: Elmukashfi Elsiddig , Tarleton Edmund , Cocks Alan C. F. 
Published: May 2020

AbstractIn this paper, we propose a finite element formulation for solving coupled mechanical/diffusion problems. In particular, we study hydrogen diffusion in metals and its impact on their mechanical behaviour (i.e. hydrogen embrittlement). The formulation can be used to model hydrogen diffusion through a material and its accumulation within different microstructural features of the material (dislocations, precipitates, interfaces, etc.). Further, the effect of hydrogen on the plastic response and cohesive strength of different interfaces can be incorporated. The formulation adopts a standard Galerkin method in the discretisation of both the diffusion and mechanical equilibrium equations. Thus, a displacement-based finite element formulation with chemical potential as an additional degree of freedom, rather than the concentration, is employed. Consequently, the diffusion equation can be expressed fundamentally in terms of the gradient in chemical potential, which reduces the continuity requirements on the shape functions to zero degree, $${\mathcal {C}}_{0}$$

C
0

, i.e. linear functions, compared to the $${\mathcal {C}}_{1}$$

C
1

continuity condition required when concentration is adopted. Additionally, a consistent interface element formulation can be achieved due to the continuity of the chemical potential across the interface—concentration can be discontinuous at an interface which can lead to numerical problems. As a result, the coding of the FE equations is more straightforward. The details of the physical problem, the finite element formulation and constitutive models are initially discussed. Numerical results for various example problems are then presented, in which the efficiency and accuracy of the proposed formulation are explored and a comparison with the concentration-based formulations is presented.
Association of the bleeding time test with aspects of traumatic brain injury in patients with alcohol use disorder
Authors: Tsitsopoulos P. P. , Marklund N. , Rostami E. , Enblad P. , Hillered L. 
Published: May 2020

Abstract
Background—aim
Traumatic brain injury (TBI) and alcohol use disorder (AUD) can occur concomitantly and be associated with coagulopathy that influences TBI outcome. The use of bleeding time tests in TBI management is controversial. We hypothesized that in TBI patients with AUD, a prolonged bleeding time is associated with more severe injury and poor outcome.

Material and methods
Moderate and severe TBI patients with evidence of AUD were examined with bleeding time according to IVY bleeding time on admission during neurointensive care. Baseline clinical and radiological characteristics were recorded. A standardized IVY bleeding time test was determined by staff trained in the procedure. Bleeding time test results were divided into normal (≤ 600 s), prolonged (> 600 s), and markedly prolonged (≥ 900 s). Normal platelet count (PLT) was defined as > 150,000/μL. This cohort was compared with another group of TBI patients without evidence of AUD.

Results
Fifty-two patients with TBI and AUD were identified, and 121 TBI patients without any history of AUD were used as controls. PLT was low in 44.2% and bleeding time was prolonged in 69.2% of patients. Bleeding time values negatively correlated with PLT (p < 0.05). TBI patients with markedly prolonged values (≥ 900 s) had significantly increased hematoma size, and more frequently required intracranial pressure measurement and mechanical ventilation compared with those with bleeding times < 900 s (p < 0.05). Most patients (88%) with low platelet count had prolonged bleeding time. No difference in 6-month outcome between the bleeding time groups was observed (p > 0.05). Subjects with TBI and no evidence for AUD had lower bleeding time values and higher platelet count compared with those with TBI and history of AUD (p < 0.05).

Conclusions
Although differences in the bleeding time values between TBI cohorts exist and prolonged values may be seen even in patients with normal platelet count, the bleeding test is a marker of primary hemostasis and platelet function with low specificity. However, it may provide an additional assessment in the interpretation of the overall status of TBI patients with AUD. Therefore, the bleeding time test should only be used in combination with the patient’s bleeding history and careful assessment of other hematologic parameters.
A Neural Network-Based Policy Iteration Algorithm with Global $$H^2$$-Superlinear Convergence for Stochastic Games on Domains
Authors: Ito Kazufumi , Reisinger Christoph , Zhang Yufei 
Published: May 2020

AbstractIn this work, we propose a class of numerical schemes for solving semilinear Hamilton–Jacobi–Bellman–Isaacs (HJBI) boundary value problems which arise naturally from exit time problems of diffusion processes with controlled drift. We exploit policy iteration to reduce the semilinear problem into a sequence of linear Dirichlet problems, which are subsequently approximated by a multilayer feedforward neural network ansatz. We establish that the numerical solutions converge globally in the $$H^2$$

H
2

-norm and further demonstrate that this convergence is superlinear, by interpreting the algorithm as an inexact Newton iteration for the HJBI equation. Moreover, we construct the optimal feedback controls from the numerical value functions and deduce convergence. The numerical schemes and convergence results are then extended to oblique derivative boundary conditions. Numerical experiments on the stochastic Zermelo navigation problem are presented to illustrate the theoretical results and to demonstrate the effectiveness of the method.
Functional Outcomes of Children Identified Early in the Developmental Period as at Risk for ASD Utilizing the The Norwegian Mother, Father and Child Cohort Study (MoBa)
Authors: Stenberg Nina , Schjølberg Synnve , Shic Frederick , Volkmar Fred , Øyen Anne-Siri , Bresnahan Michaeline , Svendsen Britt Kveim , von Tetzchner Stephen , Thronæs Nina Torheim , Macari Suzanne , Cicchetti Domenic V. , Chawarska Katarzyna , Suren Pål , Øien Roald A. 
Published: May 2020

AbstractEarly identification of autism spectrum disorder (ASD) is regarded as crucial for swift access to early intervention and, subsequently, better outcomes later in life. However, current instruments miss large proportions of children who later go on to be diagnosed with ASD, raising a question of what these instruments measure. The present study utilized data from the Norwegian Mother, Father, and Child Cohort Study and the Autism Birth Cohort study to explore the subsequent developmental and diagnostic characteristics of children raising developmental concern on the six-critical discriminative item criterion of the M-CHAT (DFA6) at 18 months of age (N = 834). The DFA6 identified 28.8% of children diagnosed with ASD (N = 163), but 4.4% with language disorder (N = 188) and 81.3% with intellectual disability (N = 32) without ASD. Scoring in the «at-risk» range was associated with lower IQ, impaired functional language, and greater severity of autism symptoms whether children had ASD or not.
Facing the threat: common yellowjacket wasps as indicators of heavy metal pollution
Authors: Skaldina Oksana , Ciszek Robert , Peräniemi Sirpa , Kolehmainen Mikko , Sorvari Jouni 
Published: May 2020

AbstractWe investigated the common wasp, Vespula vulgaris as a bioindicator and biomonitor of metals in the industrial area. Using traps, we collected 257 yellowjackets along a pollution gradient in the Harjavalta Cu-Ni smelter in Southwest Finland. Our method detected metal elements such as arsenic (As), cobalt (Co), copper (Cu), iron (Fe), nickel (Ni), lead (Pb), zinc (Zn), and mercury (Hg) in wasps. The data analyses revealed V. vulgaris can be a proper indicator for As, Cd, Co, Cu, Ni, and Pb, rather than for Fe and Zn contamination. Body burdens of As, Cd, Co, Cu, Ni, and Pb decreased with an increase in distance from smelter. Enrichment factor (EF) followed the pattern Pb ˃ Cd ˃ As ˃ Co ˃ Cu ˃ Ni. The highest bioaccumulation (BAF) values were revealed for Cd (5.9) and the lowest for Pb (0.1). Specially designed software (WaspFacer) allowed revealing body burdens of As, Cd, Co, Cu, Ni, and Pb to be associated with rather smaller than more asymmetric facial colour markings in yellowjackets. These results add to the body of literature on how heavy metal contaminants can have tangible phenotypic effects on insects and open future opportunities for using wasps as indicators of metal pollution.
An alternative approach to match field production data from unconventional gas-bearing systems
Authors: Zhang Zhi-Gang , Liu Yan-Bao , Sun Hai-Tao , Xiong Wei , Shen Kai , Ba Quan-Bin 
Published: May 2020

AbstractNowadays, the unconventional gas-bearing system plays an increasingly important role in energy market. The performances of the current history-matching techniques are not satisfied when applied to such systems. To overcome this shortfall, an alternative approach was developed and applied to investigate production data from an unconventional gas-bearing system. In this approach, the fluid flow curve obtained from the field is the superposition of a series of Gaussian functions. An automatic computing program was developed in the MATLAB, and both gas and water field data collected from a vertical well in the Linxing Block, Ordos Basin, were used to present the data processing technique. In the reservoir study, the automatic computing program was applied to match the production data from a single coal seam, multiple coal seams and multiple vertically stacked reservoirs with favourable fitting results. Compared with previous approaches, the proposed approach yields better results for both gas and water production data and can calculate the contributions from different reservoirs. The start time of the extraction for each gas-containing unit can also be determined. The new approach can be applied to the field data prediction and designation for the well locations and patterns at the reservoir scale.
Leaving No One Behind: Multidimensional Child Poverty in Botswana
Authors: Lekobane Khaufelo Raymond , Roelen Keetie 
Published: May 2020

AbstractChild poverty measurement is vital for informing policies and for improving children’s lives. Nevertheless, efforts to measure (child) poverty remain dominated mainly by monetary approaches, and many countries fail to monitor multidimensional child poverty. Using the 2015/2016 Botswana multi-topic household survey, this study developed a child-centred, individual-level and composite measure that offers nationally relevant and context-specific insights into the magnitude and depth of multidimensional child poverty in Botswana. In particular, it did so through the lens of Leave No One Behind (LNOB) by zooming in on demographic, economic and geographical characteristics that may be associated with greater vulnerability or marginalisation using both descriptive and regression analysis. Results point towards a relatively high incidence and depth of multidimensional child poverty in Botswana. Results show that disabled children, orphans, children living in larger families, families headed by unmarried couples and living in rural areas are more likely to be multidimensionally poor.
Soft Sediment Deformation Structures in Quaternary Sediments from Dadra and Nagar Haveli, Western India
Authors: Kumar Naveen , Mohan Kapil , Dumka Rakesh K , Chopra Sumer 
Published: May 2020

Abstract
Quaternary sediments are preserved in disconnected patches along the middle and lower reaches of major river valleys like Damanganga, Par, Ratakhadi and Dongarkhadi in the Dadra and Nagar Haveli region of Konkan coastal belt, Western India. These deposits mainly consist of stratified sand, silt, clay and gravel beds. The study area has been earlier affected by moderate earthquakes. The identified soft-sediment deformation structures (SSDS) are mainly developed in the sand silt, sand gravel and clay beds; and includes intrusive sedimentary bodies (dykes and sills), slump structures, suspended clast blocks and convolute structures. The nature, shape and dimension of SSDS suggest that the trigger mechanism and driving forces for the origin of these structures were seismic shock waves. Sediment loading and storm events as a trigger for the SSDS are less likely the reason and the proximity of these structures to the faults support the inference that it may be of seismic origin. Deformation in the Quaternary sediments of Dadra and Nagar Haveli imply the presence of neotectonic activity and points to an earthquake of magnitude &gt;5.5 that struck the study area after sediment deposition.
Rare Metal (RM) and Rare Earth Element (REE) Resources: World Scenario with Special Reference to India
Authors: Krishnamurthy P. 
Published: May 2020

Abstract
The RM (Li, Be, Ti, Zr, Nb, Ta, Th and U) and REE (Light Rare Earths and Heavy Rare Earths including Yttrium) are strategic and critical for sustaining a variety of industries such as nuclear, defence, information technology (IT) and green energy options (wind, solar, electric vehicles and others). The 2010 ‘Rare Earth’ crisis of the world, following China’s monopoly with over 80% share and export restrictions in the REE market, led to an exploration boom for REE all over the world including India. This led to a substantial increase in REE mineral resources (98 Mt of contained REO in 2015) outside China located in Canada (38 Mt), Greenland (39 Mt) and Africa (10.3 Mt) that represents a five-fold increase in resources (c.f. Paulick and Machacek, 2017). As per the 2019, USGS commodity survey, the world reserves of REE have been estimated at 120 Mt in countries such as China (44Mt), Brazil (22Mt), Vietnam (22 Mt), Russia (12 Mt), India (6.9 Mt) and others (13 Mt).
At present world resources of RM and REE are adequate to cater the demands of the different industries. The constraints, however, appear to be not technical but mainly environmental and social issues.
An Integrated Study to Delineate the Groundwater Potential Zones Using Geospatial Approach of Sidhi Area, Madhya Pradesh
Authors: Tiwari Rabindra N. , Kushwaha Vikash K. 
Published: May 2020

Abstract
The surface and groundwater resources are depleting over time, therefore, it becomes essential to monitor and preserve these resources and also to protect their quality. Remote sensing and GIS has become an important tool of hydrological studies in recent times which helps in assessing and mapping of ground-water resources. The remote sensing and GIS approach are well known and widely used techniques to integrate contributing hydrogeological factors namely, geology, geomorphology, lineaments density, drainage density, soil type, slope and land use/ land cover. A study was conducted to delineate the groundwater potential zones in a part of Sidhi area, Madhya Pradesh using remote sensing and GIS techniques. Landsat 8 satellite data and Aster DEM is integrated with toposheets for systematic mapping. All thematic layers were integrated, overlaid and analysed using GIS software. Groundwater potential zone is delineated and to interpret thematic layer, appropriate weights assigned to topographical features for assessing the potential zone. The zones are divided into high, moderate and low groundwater potential zones. The study reveals that 21.36% of the area has high potential, 48.12% moderate and 30.51% low potential zone for groundwater occurrence. The result of this study suggests that the favourable potential zones would prove to be very helpful for better planning and management of groundwater resources in the study area.
Nature-based agriculture for an adequate human microbiome
Authors: Erisman Jan Willem 
Published: May 2020

AbstractIn the discussion about food and the environment, most focus is on climate and nutrients. Food in relation to human health is an issue that gets much less attention. But what is healthy food and how can we couple food, health, and the environment more strongly to reach a more integral approach from a system perspective? Here I will discuss the potential of a nature-based food system in relation to health and wellbeing. It is hypothesized that for a healthy diet, both nutritious food and nature-based foods are essential. Nature-based foods contribute to maintaining a healthy human microbiome and are therefore an essential part of diets containing landless and ultra-processed foods. Furthermore, maintaining the essential microbiology has consequences for how and where we produce our foods. Therefore, a conceptual framework is proposed for nature-based food production.
Design studies and multi-disciplinary assessment of agile and highly swept flying wing configurations
Authors: Liersch Carsten M. , Schütte Andreas , Siggel Martin , Dornwald Jochen 
Published: May 2020

AbstractThis article belongs to a series of publications on the design and assessment of the MULDICON UCAV configuration. MULDICON is a 53° swept flying wing combat aircraft concept, investigated in a common effort between the DLR research project Mephisto and the NATO STO Research Task Group AVT-251. This article focuses on the development of the overall concept starting from its predecessor, the SACCON configuration, and the requirements which had been defined for the MULDICON design task. A second focus is placed on the investigation of the vortex-dominated flow topology arising around such a configuration and its sensitivity to specific geometric changes. Furthermore, the article briefly introduces the DLR conceptual aircraft design system and the extensions which have been developed for improving its capabilities for UCAV assessment. Finally, an industrial view on the MULDICON design task is provided, as well as a conclusion of the Mephisto results and an outlook upon further work.
A linear approximation for solutions of Abel–Volterra integral equations
Authors: Nadir Mostefa 
Published: May 2020

AbstractIn this work, we present a modified linear approximation for solving the first and the second kind Abel–Volterra integral equations.
This approximation was used by the author to approximate a weakly singular integral on the curve.
Noting that this new technique gives a good approximation of these solutions compared with several methods in several numerical examples.
Religion als Treiber oder Bremse für Bedrohungsgefühle?
Authors: Hillenbrand Carolin 
Published: May 2020

ZusammenfassungWachsende migrationsbezogene Bedrohungsgefühle in Deutschland äußern sich in rassistischer Gewalt und gefährden den gesellschaftlichen Zusammenhalt. Vor diesem Hintergrund liefert der vorliegende Artikel einen Beitrag dazu, wie es derzeit um verschiedene Arten migrationsbezogener Bedrohungswahrnehmungen in der Bundesrepublik bestellt ist und welche Aspekte damit zusammenhängen. Im Spezifischen wird die „Religion“ untersucht, deren paradoxe und sich verändernde Rolle in der Vorurteilsforschung ein Rätsel bleibt. In einer theoriegeleiteten empirischen Analyse wird der Forschungsfrage nachgegangen, welche Rolle die Religion für migrationsbezogene Bedrohungsgefühle in Deutschland spielt.Hierzu wird ein theoretischer Analyserahmen entwickelt. „Realistische Bedrohungsgefühle“ (mit den Kategorien: Wirtschaft, Wohlfahrtsstaat und Sicherheit) werden von „symbolischen Bedrohungsgefühlen“ (mit den Kategorien: allgemeines, kulturelles und religiöses Leben) differenziert. „Religion“ wird anhand der Dimensionen „belonging“ (Religionszugehörigkeit), „believing“ (Stärke der Religiosität) und „behaving“ (Gottesdienstbesuch und privates Gebet) spezifiziert. Darauf aufbauend werden Hypothesen bzgl. der Wirkungszusammenhänge zwischen den Variablen hergeleitet und auf Basis des „Immigrations-Moduls“ des „European Social Survey“ (2014) im Rahmen einer multivariaten Regressionsanalyse empirisch getestet. Die Ergebnisse zeigen für Deutschland, dass Religionszugehörige (Katholik*innen, Protestant*innen, Anhänger*innen anderer christlicher Konfessionen, Muslime) nicht generell höhere migrationsbezogene Bedrohungsgefühle im Vergleich zu Konfessionslosen aufweisen. Auch der Gottesdienstbesuch und die private Gebetspraxis einer Person scheinen kaum einen Unterschied für deren Bedrohungswahrnehmungen zu machen. Vielmehr fühlen sich Menschen, die sich als religiös einschätzen, weniger durch Migration bedroht, vor allem was die Sicherheit, das allgemeine sowie religiöse Leben betrifft. Dieser Effekt ist robust – auch unter Kontrolle weiterer relevanter Einflussfaktoren wie: Intergruppen-Kontakt, Zufriedenheit mit deutscher Wirtschaft, Autoritarismus, politische Links-Rechts-Einstufung, sozialer Status, empfundener Ausländeranteil, Wohnort (Ost‑/Westdeutschland) sowie Alter und Geschlecht.