bluuebunny/crossref_metadata_2025_split huggingface dataset:
Diagnostic challenges for a novel SH2D1A mutation associated with X‐linked lymphoproliferative disease
Authors: Torralba‐Raga Lamberto , Tesi Bianca , Chiang Samuel C. C. , Schlums Heinrich , Nordenskjöld Magnus , Horne AnnaCarin , Henter Jan‐Inge , Meeths Marie , Abdelhaleem Mohamed , Weitzman Sheila , Bryceson Yenan 
Published: January 2020

AbstractMutations in SH2D1A, encoding the intracellular adaptor signaling lymphocyte activation molecule associated protein (SAP), are associated with X‐linked lymphoproliferative disease type 1 (XLP1). We identified a novel hemizygous SH2D1A c.49G > A (p.E17K) variant in a 21‐year‐old patient with fatal Epstein‐Barr virus infection–associated hemophagocytic lymphohistiocytosis. Cellular and biochemical assays revealed normal expression of the SAP variant protein, yet binding to phosphorylated CD244 receptor was reduced by >95%. Three healthy brothers carried the SH2D1A c.49G > A variant. Thus, data suggest that this variant represents a pathogenic mutation, but with variable expressivity. Importantly, our results highlight challenges in the clinical interpretation of SH2D1A variants and caution in using functional flow cytometry assays for the diagnosis of XLP1.
Feasibility and agreement of including anterior‐posterior complexes and landmarks of the proximal hemisphere into basic examination of the fetal brain: A prospective study
Authors: Hormazabal Lorena , Correa Flavia , Escribano David , Quiroz Gabriel , Saint‐Jean Constanza , Espinel Andrea , Diaz Linder , Zambrano Belkys , Galindo Alberto , Viñals Fernando 
Published: January 2020

AbstractObjectiveTo assess the feasibility of identifying structures included in anterior complex (AC) and posterior complex (PC), as well as a series of anatomic landmarks that could help to demonstrate the integrity of the cerebral proximal hemisphere (PH).MethodsThis was a prospective observational multicenter study of healthy pregnant women attending routine ultrasound screening at 20 + 0 to 33 + 6 weeks' gestation. Six physicians performed transabdominal (TA) ultrasound, in order to obtain the planes required to visualize the AC, PC, and PH. Blind analysis by a nonexpert and two experts in fetal neurosonography was used to assess the structures included in each plane view.ResultsIn the population studied (n = 747), detection of the structure rates for AC, PC, and proximal hemisphere was of 94%, 93%, and 96%, respectively, with an agreement of 97%, 94%, and 98% when comparing an expert and a nonexpert in fetal brain examiner. Detection of structures in the proximal hemisphere was significantly higher when observed through the proximal hemisphere plane rather than the transventricular plane.ConclusionOur results suggest that inclusion of AC and PC complexes visualization, as well as real‐time access to the proximal hemisphere, is feasible and could improve the prenatal detection of fetal cerebral anomalies.
Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management
Authors: Han Jin , Yang Yan‐Dong , He Yi , Liu Wen‐Jie , Zhen Li , Pan Min , Yang Xin , Zhang Victor Wei , Liao Can , Li Dong‐Zhi 
Published: January 2020

AbstractObjectiveThe aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar.MethodPregnant women who were referred for genetic testing because of ultrasound detection of fetal abnormalities suggestive of a skeletal dysplasia were identified prospectively. Fetal samples (amniocytes or cord blood), along with parental blood, were send for rapid copy number variations testing and medical trio ES in parallel.ResultsDefinitive molecular diagnosis was made in 24/27 (88.9%) cases. Chromosomal abnormality (partial trisomy 18) was detected in one case. Sequencing results had explained the prenatal phenotype enabling definitive diagnoses to be made in 23 cases. There were 16 de novo dominant pathogenic variants, four dominant pathogenic variants inherited maternally or paternally, two recessive conditions with pathogenic variants inherited from unaffected parents, and one X‐linked condition. The turnaround time from receipt of samples in the laboratory to reporting sequencing results was within 2 weeks.ConclusionMedical trio ES can yield very timely and high diagnostic rates in fetuses presenting with suspected skeletal dysplasia. These definite diagnoses aided parental counseling and decision making in most of cases.
Urine gastrin‐releasing peptide in the first week correlates with bronchopulmonary dysplasia and post‐prematurity respiratory disease
Authors: Voynow Judith A. , Fisher Kimberley , Sunday Mary E. , Cotten Charles M. , Hamvas Aaron , Hendricks‐Muñoz Karen D. , Poindexter Brenda B. , Pryhuber Gloria S. , Ren Clement L. , Ryan Rita M. , Sharp Jack K. , Young Sarah P. , Zhang Haoyue , Greenberg Rachel G. , Herring Amy H. , Davis Stephanie D. 
Published: January 2020

AbstractRationaleBronchopulmonary dysplasia (BPD) is associated with post‐prematurity respiratory disease (PRD) in survivors of extreme preterm birth. Identifying early biomarkers that correlate with later development of BPD and PRD may provide insights for intervention. In a preterm baboon model, elevated gastrin‐releasing peptide (GRP) is associated with BPD, and GRP inhibition mitigates BPD occurrence.ObjectiveWe performed a prospective cohort study to investigate whether urine GRP levels obtained in the first postnatal week were associated with BPD, PRD, and other urinary biomarkers of oxidative stress.MethodsExtremely low gestational age infants (23‐28 completed weeks) were enrolled in a US multicenter observational study, The Prematurity and Respiratory Outcomes Program (http://clinicaltrials.gov/ct2/show/NCT01435187). We used multivariable logistic regression to examine the association between urine GRP in the first postnatal week and multiple respiratory outcomes: BPD, defined as supplemental oxygen use at 36 + 0 weeks postmenstrual age, and post‐PRD, defined by positive quarterly surveys for increased medical utilization over the first year (PRD score).ResultsA total of 109 of 257 (42%) infants had BPD, and 120 of 217 (55%) had PRD. On adjusted analysis, GRP level more than 80 was associated with BPD (adjusted odds ratio [aOR], 1.83; 95% confidence interval [CI], 1.03‐3.25) and positive PRD score (aOR, 2.46; 95% CI, 1.35‐4.48). Urine GRP levels correlated with duration of NICU ventilatory and oxygen support and with biomarkers of oxidative stress: allantoin and 8‐hydroxydeoxyguanosine.ConclusionsUrine GRP in the first postnatal week was associated with concurrent urine biomarkers of oxidative stress and with later diagnoses of BPD and PRD.
How to choose templates for modeling of protein complexes: Insights from benchmarking template‐based docking
Authors: Chakravarty Devlina , McElfresh GW , Kundrotas Petras J. , Vakser Ilya A. 
Published: January 2020

AbstractComparative docking is based on experimentally determined structures of protein‐protein complexes (templates), following the paradigm that proteins with similar sequences and/or structures form similar complexes. Modeling utilizing structure similarity of target monomers to template complexes significantly expands structural coverage of the interactome. Template‐based docking by structure alignment can be performed for the entire structures or by aligning targets to the bound interfaces of the experimentally determined complexes. Systematic benchmarking of docking protocols based on full and interface structure alignment showed that both protocols perform similarly, with top 1 docking success rate 26%. However, in terms of the models' quality, the interface‐based docking performed marginally better. The interface‐based docking is preferable when one would suspect a significant conformational change in the full protein structure upon binding, for example, a rearrangement of the domains in multidomain proteins. Importantly, if the same structure is selected as the top template by both full and interface alignment, the docking success rate increases 2‐fold for both top 1 and top 10 predictions. Matching structural annotations of the target and template proteins for template detection, as a computationally less expensive alternative to structural alignment, did not improve the docking performance. Sophisticated remote sequence homology detection added templates to the pool of those identified by structure‐based alignment, suggesting that for practical docking, the combination of the structure alignment protocols and the remote sequence homology detection may be useful in order to avoid potential flaws in generation of the structural templates library.
Spinal pain relief procedures with the assistance of the MRI‐updated statistical shape model
Authors: Alimohamadi Gilakjan Samaneh , Majedi Hossein , Makki Abadi Bahador , Ahmadian Alireza 
Published: January 2020

AbstractBackgroundUpdating the statistical shape model (SSM) used in image guidance systems for the treatment of back pain using pre‐op computed tomography (CT) and intra‐op ultrasound (US) is challenging due to the scarce availability of pre‐op images and the low resolution of the two imaging modalities.MethodsA new approach is proposed here to update SSMs based on the sparse representation of the preoperative MRI images of patients as well as CT images, followed by displaying the injection needle and 3D tracking view of the patients' spine.ResultsThe statistical analysis shows that updating the SSM using the patients' available MRI images (in more than 95% of the cases) instead of CT images (in less than 5%) will help maintain the required accuracy of needle injection based on the evaluation of injection in different parts of the phantom.ConclusionThe results show that using the proposed model helps reduce the dosage and processing time significantly while maintaining the precision required for the pain procedures.
Mid‐infrared spectroscopy for prediction of soil health indicators in the United States
Authors: Sanderman Jonathan , Savage Kathleen , Dangal Shree R.S. 
Published: January 2020

AbstractQuantifying the holistic notion of soil health requires a large suite of measurements spanning the physical, chemical and biological properties of soil. The cost of measuring the full suite of soil health indicators via traditional methods is cost prohibitive for the spatial and temporal monitoring many land managers would like. Here we investigated the ability to make predictions of numerous soil health indicators from the large mid‐infrared (MIR) spectral library developed by the National Soil Survey Center. We developed nationally applicable models with test‐set validation coefficient of determination (R2) > 0.80 for water retention (WT), bulk density (BD), texture (as percentages of sand, silt and clay), cation exchange capacity (CEC), exchangeable bases, base saturation (BS), electrical conductivity (EC), pH, soil organic carbon (SOC) and total nitrogen (TN). Using the memory‐based learning (MBL) model, a locally weighted approach, we found that this database could also predict aggregate stability, plant available P and K with an R2 > 0.70 on independent validation samples. Models for nitrate and micronutrients were less successful but these properties were only sparsely represented in the database. Two test cases were used to demonstrate the utility of MIR spectroscopy in providing a wealth of data for a fraction of the time and cost involved with traditional analyses. While MIR spectroscopy‐based predictions may not always be appropriate for applications requiring very high levels of accuracy, results from this work and elsewhere suggest that this technology can replace, or at least supplement, traditional analyses for many purposes.
Thermal conductivity of mineral soils relates linearly to air‐filled porosity
Authors: Xie Xiaoting , Lu Yili , Ren Tusheng , Horton Robert 
Published: January 2020

AbstractSoil thermal conductivity (λ) depends largely on the volume fractions of soil solids, air and water. Previous studies focus mainly on developing saturation or soil water content (θ) dependent λ models. There are reports that λ is correlated more with air‐filled porosity (na) than with θ, and the correlation is less affected by solid fraction and λ of soil solids. In this study, a simple linear relationship between λ andnais developed with both newly measured and published datasets. Independent evaluations showed good agreement between estimated and measured λ values with root mean square errors less than 0.24 W m−1K−1, indicating that the linear λ‐narelationship could be used to approximate λ fromnawith satisfactory accuracy.
A framework for science classroom assessment task design for emergent bilingual learners
Authors: Fine Caitlin G. McC. , Furtak Erin M. 
Published: January 2020

AbstractThe Framework for K–12 Science Education (NRC; 2012) placed renewed emphasis on creating equitable science learning opportunities for all learners by engaging in three‐dimensional learning experiences: disciplinary core ideas, crosscutting concepts, and science and engineering practices. Additionally, the Framework calls for a more inclusive approach to science learning that builds upon learners' linguistic practices and funds of knowledge and integrates open‐ended, multimodal approaches to documenting learning throughout the assessment process. To support assessment developers in designing expansive Framework‐aligned classroom‐assessment approaches for emergent bilingual learners—learners developing two or more languages—tools are needed to guide design of assessments from their inception. This paper presents a literature‐based framework for science assessment design for emergent bilingual learners that includes components critical to support these learners. We then operationalize the framework into five categories and analyze nine publicly available Next Generation Science Standards sample classroom assessments. The sample tasks allow us to illustrate how those engaged in classroom assessment design might create more expansive Framework‐based science classroom assessments appropriate for emergent bilingual learners.
Interfacial Capillary‐Force‐Driven Self‐Assembly of Monolayer Colloidal Crystals for Supersensitive Plasmonic Sensors
Authors: Wang Hongbo , Chen Wei , Chen Bo , Jiao Yu , Wang Yang , Wang Xuepeng , Du Xinchuan , Hu Yin , Lv Xiaoxue , Zeng Yushuang , Wang Xianfu , Qian Linmao , Xiong Jie 
Published: January 2020

AbstractColloidal lithography technology based on monolayer colloidal crystals (MCCs) is considered as an outstanding candidate for fabricating large‐area patterned functional nanostructures and devices. Although many efforts have been devoted to achieve various novel applicatons, the quality of MCCs, a key factor for the controllability and reproducibility of the patterned nanostructures, is often overlooked. In this work, an interfacial capillary‐force‐driven self‐assembly strategy (ICFDS) is designed to realize a high‐quality and highly‐ordered hexagonal monolayer MCCs array by resorting the capillary effect of the interfacial water film at substrate surface as well as controlling the zeta potential of the polystyrene particles. Compared with the conventional self‐assembly method, this approach can realize the reself‐assembly process on the substrate surface with few colloidal aggregates, vacancy, and crystal boundary defects. Furthermore, various typical large‐scale nanostructure arrays are achieved by combining reactive ion etching, metal‐assisted chemical etching, and so forth. Specifically, benefiting from the as‐fabricated high‐quality 2D hexagonal colloidal crystals, the surface plasmon resonance (SPR) sensors achieve an excellent refractive index sensitivity value of 3497 nm RIU−1, which is competent for detecting bovine serum albumin with an ultralow concentration of 10−8 m. This work opens a window to prepare high‐quality MCCs for more potential applications.
A Fluorescence–Phosphorescence–Phosphorescence Triple‐Channel Emission Strategy for Full‐Color Luminescence
Authors: Weng Taoyu , Baryshnikov Gleb , Deng Chao , Li Xuping , Wu Bin , Wu Hongwei , Ågren Hans , Zou Qi , Zeng Tao , Zhu Liangliang 
Published: January 2020

AbstractOrganic luminogens constitute promising prototypes for various optoelectronic applications. Since gaining distinct color emissions normally requires the alternation of the conjugated backbone, big issues remain in material synthetic cost and skeleton compatibility while pursuing full‐color luminescence. Upon a facile one‐step coupling, three simple but smart perchalcogenated (O, S, and Se) arenes are synthesized. They exhibit strong luminescent tricolor primaries (i.e., blue, green, and red, respectively) in the solid state with a superior quantum yield up to >40% (5–10 times higher than that in corresponding solutions). The properties originate from a fluorescence–phosphorescence–phosphorescence triple‐channel emission effect, which is regulated by S and Se heavy atoms–dependent intersystem crossing upon molecular packing, as well as Se–Se atom interaction–caused energy splittings. Consequently, full‐color luminescence, including a typical white‐light luminescence with a Commission Internationale de I'Eclairage coordinate of (0.30, 0.35), is realized by complementarily incorporating these tricolor luminescent materials in the film. Moreover, mechanochromic luminescent color conversions are also observed to achieve the fine‐tuning of the luminescent tints. This strategy can be smart to address full‐color luminescence on the same molecular skeleton, showing better material compatibility as an alternative to the traditional multiple‐luminophore engineering.
Seismic behavior of precast double‐face superposed shear walls with horizontal joints and lap spliced vertical reinforcement
Authors: Gu Qian , Dong Ge , Ke Yang , Tian Shui , Wen Siqing , Tan Yuan , Gao Xu 
Published: January 2020

AbstractThe double‐face superposed shear wall is a partially prefabricated and partially poured on site assembly‐type RC structure. It imbibes advantages of cast‐in‐place concrete structures and precast concrete structures including the light deadweight of precast hollow wall panels, high road transport and site hoisting efficiency, strong structural integrity after assembly and construction, and excellent waterproofing of the wall joints. In order to explore the seismic behavior of double‐face superposed shear wall compared with cast‐in‐place concrete shear wall, four kinds of lap spliced vertical reinforcement at the horizontal joints of double‐face superposed shear walls are designed in this paper. Four full‐scale double‐face superposed shear wall and a cast‐in‐place shear wall specimens are fabricated and tested under cyclic loading, and the failure mode, bearing capacity, hysteresis feature, ductility, energy dissipation capacity, stiffness degradation, and shear deformation of each specimen are compared. The test results show that the vertical lap reinforcement array in post‐poured concrete can effectively transfer the load at horizontal joints of double‐face superposed shear wall, which behaves similar performance to that of the cast‐in‐place shear wall under cyclic loading. Moreover, the promoted horizontal joint is very convenient for assembly construction with a wide application prospect.
Factors governing the fire response of prestressed reactive powder concrete beams
Authors: Yan Kai , Yang Jiacheng , Doh Jeung‐Hwan , Zhang Xin 
Published: January 2020

AbstractThis article presents the details of a fire test on eight prestressed reactive powder concrete (RPC) beams cured with 150°C hot air. The test specimens varied in load ratio, cover thickness of tendons, bonded and unbonded tendons, and partial prestressing ratio. The thermal fields, deflection behavior, effective prestress, fire endurance, failure modes, and crack patterns of the beams were observed and recorded, revealing that no obvious fire‐induced spalling occurred on the prestressed RPC beams. The fire test results indicate that the failure of prestressed RPC beams was driven by direct fire exposure and fracture of tendons and longitudinal rebars after generation of wide cracks in the beams. In extreme fire, prestressed RPC beams that were under‐reinforced at ambient temperature may fail as low‐reinforced beams. Fire resistance of the prestressed RPC beams dramatically improved with a decrease of load ratio and increase of cover thickness of tendons. Bonded prestressed RPC beams showed superior performance over equivalent unbonded prestressed RPC beams in fire. The whole‐scale transferring effect of prestress loss in unbonded beams should be considered for fire resistance performance design based on structural systems.
Aeroelastic validation and Bayesian updating of a downwind wind turbine
Authors: Sarma Rakesh , Dwight Richard P. , Viré Axelle 
Published: January 2020

SummaryDownwind wind turbine blades are subjected to tower wake forcing at every rotation, which can lead to structural fatigue. Accurate characterisation of the unsteady aeroelastic forces in the blade design phase requires detailed representation of the aerodynamics, leading to computationally expensive simulation codes, which lead to intractable uncertainty analysis and Bayesian updating. In this paper, a framework is developed to tackle this problem. Full, detailed aeroelastic model of an experimental wind turbine system based on 3‐D Reynolds‐averaged Navier‐Stokes is developed, considering all structural components including nacelle and tower. This model is validated against experimental measurements of rotating blades, and a detailed aeroelastic characterisation is presented. Aerodynamic forces from prescribed forced‐motion simulations are used to train a time‐domain autoregressive with exogenous input (ARX) model with a localised forcing term, which provides accurate and cheap aeroelastic forces. Employing ARX, prior uncertainties in the structural and rotational parameters of the wind turbine are introduced and propagated to obtain probabilistic estimates of the aeroelastic characteristics. Finally, the experimental validation data are used in a Bayesian framework to update the structural and rotational parameters of the system and thereby reduce uncertainty in the aeroelastic characteristics.