bluuebunny/crossref_metadata_2025_split huggingface dataset:
Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations
Authors: Rudnik‐Schöneborn Sabine , Deden Florian , Eggermann Katja , Eggermann Thomas , Wieczorek Dagmar , Sellhaus Bernd , Yamoah Alfred , Goswami Anand , Claeys Kristl G. , Weis Joachim , Zerres Klaus 
Published: March 2016

ABSTRACTIntroductionHeterozygous BICD2 gene mutations cause a form of autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED).MethodsWe analyzed the BICD2 gene in a selected group of 25 index patients with neurogenic muscle atrophy.ResultsWe identified 2 new BICD2 missense mutations, c.2515G>A, p.Gly839Arg, in a family with autosomal dominant inheritance, and c.2202G>T, p.Lys734Asn, as a de novo mutation in an isolated patient with similar phenotype. The patients had congenital foot contractures, muscle atrophy of the legs, and slowly progressive weakness of the shoulder girdle. There was no apparent sensory or brain dysfunction. One patient died of unrelated reasons at age 52 years. Autopsy revealed no upper motor neuron and only moderate lower motor neuron loss, but there was distal corticospinal tract degeneration and marked neurogenic muscular atrophy.ConclusionThese findings give further insight into the clinical and pathoanatomical consequences of BICD2 mutations. Muscle Nerve 54: 496–500, 2016
Evaluation of autonomic nervous system function in children with overactive bladder syndrome
Authors: Demir Aysegul Dogan , Gursoy Azize Esra , Goknar Nilufer , Uzuner Selcuk , Ozkaya Emin , Erenberk Ufuk , Vehapoglu Aysel , Dundaroz Mehmet Rusen , Oktem Faruk 
Published: March 2016

PurposeWe aimed to evaluate the autonomic nervous system activity in children with overactive bladder (OAB) syndrome.MethodsIncluded in the study were 40 children with overactive bladder and 28 healthy controls. Autonomic tests were performed on all participants, including heart rate interval variation (RRIV), heart rate response to valsalva maneuver, and sympathetic skin response (SSR).ResultsMean valsalva rates in the overactive bladder and control groups were 1.53 ± 0.29 and 1.30 ± 0.18, respectively, a statistically significant difference (P < 0.001). Also significantly different were deep breathing RRIV values of the study and control groups: 56.65 ± 14.66 and 47.92 ± 10.15, respectively (P = 0.008). No statistical differences were found in SSR when OAB patients were compared with controls (P > 0.05).ConclusionsThis study demonstrated a parasympathetic hyperactivity in children with OAB, results suggesting a dysfunction in their autonomic nervous systems. Neurourol. Urodynam. 36:673–676, 2017. © 2016 Wiley Periodicals, Inc.
Primary Metastatic Synovial Sarcoma: Experience of the CWS Study Group
Authors: Scheer Monika , Dantonello Tobias , Hallmen Erika , Vokuhl Christian , Leuschner Ivo , Sparber‐Sauer Monika , Kazanowska Bernarda , Niggli Felix , Ladenstein Ruth , Bielack Stefan S. , Klingebiel Thomas , Koscielniak Ewa 
Published: March 2016

BackgroundPrognostic factors for localized synovial sarcoma are well defined. However, few data exist regarding patients with metastases at diagnosis. Poor outcome is described but the optimal therapeutic regimen remains unclear. Our aim was to assess the outcome, identify prognostic factors, and analyze treatment strategies.MethodsPatients <21 years with synovial sarcoma and primary distant metastases treated in the consecutive prospective European Cooperative Weichteilsarkom Studiengruppe trials 1980–2010 were analyzed.ResultsTwenty‐nine of 296 patients had primary metastases. Twenty‐seven could be included. Median age was 16.7 years. Primaries were mainly located in the limbs (78%) and 74% were ≥10 cm. Metastases involved the lungs in all patients. Two patients presented with synchronous bone metastases. Sixty‐three percent of patients achieved a first remission, whereas only 26% maintained it. Relapses were metastatic with pulmonary metastases in nearly all patients. Five‐year event‐free survival and overall survival (OS) rates were 26% and 30%, respectively. Prognosis was best for patients with oligometastatic lung metastases (5‐year OS probability 85%). Prognosis was worse for patients with multiple bilateral lung metastases (5‐year OS 13%) and even poorer for those with concurrent bone metastases. Treatment elements associated with superior survival were adequate local therapy of the primary tumor and, if feasible, for metastases, chemotherapy with an ifosfamide/doxorubicin‐based regimen. The use of whole lung irradiation was not correlated with better outcomes.ConclusionsThe overall prognosis of primary metastatic synovial sarcoma is poor. However, individuals with oligometastatic lung metastases had very good chance for long‐term survival when treated with adequate multimodal therapy.
Diabetes in the shadow of daily life: factors that make diabetes a marginal problem
Authors: Ågård Anders , Ranjbar Vania , Strang Susann 
Published: March 2016

AbstractThe primary aim of this qualitative study, which was based on interviews with 24 patients with diabetes mellitus, was to identify factors that influence patients’ willingness and ability to adhere to prescribed medicines, to recommend lifestyle choices and to acquire a deeper understanding of the way these factors influence adherence. The starting point for the study was our belief that it may be of pivotal importance for health professionals to address patients’ life experiences, present life situations and cultural background, as well as their conceptions and attitudes, in order to understand why some patients have or may encounter difficulty in following treatment recommendations and realising treatment goals.Four main themes related to the primary research questions were identified. Patients with diabetes may regard diabetes as a lifelong follower but not a real problem: a trifle in relation to the daily struggle with difficulties; something out of one's control; something not worth giving up the good things in life for. In our opinion, the main result of this study is that patients may view diabetes as a marginal problem in relation to other burdens and troubles in life, such as other somatic diseases and symptoms, mental illnesses due to previous traumatic experiences, concerns for loved ones and economy.We argue that the desired goals in terms of adherence and outcomes for patients with diabetes in general need to be adapted to what is desirable and realistic for the individual patient. Copyright © 2016 John Wiley & Sons.
Probabilistic evaluation of solar photovoltaic systems using Bayesian networks: a discounted cash flow assessment
Authors: Leicester Philip A. , Goodier Chris I. , Rowley Paul 
Published: March 2016

AbstractSolar photovoltaic (PV) technology is now a key contributor worldwide in the transition towards low‐carbon electricity systems. To date, PV commonly receives subsidies in order to accelerate adoption rates by increasing investor returns. However, many aleatory and epistemic uncertainties exist with regard to these potential returns. In order to manage these uncertainties, an innovative probabilistic approach using Bayesian networks has been applied to the techno‐economic analysis of domestic solar PV. Empirical datasets from over 600 domestic PV systems, together with national domestic electricity usage datasets, have been used to generate and calibrate prior probability distributions for PV yield and domestic electricity consumption, respectively, for typical urban housing stock. Subsequently, conditional dependencies of PV self‐consumption with regard to PV generation and household electricity consumption have been simulated via stochastic modelling using high temporal resolution demand and PV generation data. A Bayesian network model is subsequently applied to deliver posterior probability distributions of key parameters as part of a discounted cash flow analysis. The results illustrate the sensitivity of PV investment returns to parameters such as PV self‐consumption, PV degradation rates and geographical location and quantify inherent uncertainties when evaluating the impact of sector‐specific PV adoption upon economic indicators. The outcomes are discussed in terms of the value and impact of this new Bayesian approach in terms of supporting robust and rigorous policy and investment decision‐making, especially in post‐subsidy contexts globally. © 2016 The Authors. Progress in Photovoltaics: Research and Applications published by John Wiley & Sons Ltd.
A highly localized high‐precipitation event over Corsica
Authors: Scheffknecht P. , Richard E. , Lambert D. 
Published: March 2016

In the framework of the Hydrological Cycle of the Mediterranean Experiment (HyMeX), the high precipitation event (HPE) of 23 October 2012 is investigated. In the morning, a highly localized convective system developed over the southeast of Corsica, close to Porto‐Vecchio. Its precipitation maximum is estimated at over 100 mm within 6 h. The Meso‐NH model is used with a horizontal grid spacing of 2.5 km to simulate the HPE. Different input datasets and starting times are used to assess the predictability of the event and the large spread of this initial condition ensemble indicates low predictability. Among the nine ensemble members only one captures the timing and location of the event.When the horizontal grid spacing is reduced to 500 m, precipitation is more widespread, maximum values are lower, and individual convective cells are smaller. Random perturbations to model physics are used to obtain a second ensemble, which shows less spread than the initial condition ensemble. The HPE over Porto‐Vecchio is present in all members of the physics ensemble with varying intensity while precipitation away from orography is more sensitive. Flattening the Corsican orography removes the HPE while blocking the cold northerly inflow into the Mediterranean basin increases its duration and intensity.From the analyses and simulations it is shown that the HPE of 23 October 2012 was located over a convergence line resulting from flow splitting and lee‐side convergence of the northerly boundary‐layer flow impinging the Corsican mountains. Moist air located east of the island was fed into this convergence line by northerly low‐level winds and southeasterly winds aloft advected the cells inland along the stationary convergence line, allowing large precipitation accumulations over a relatively small area.
Extension of the Q Orbitrap intrascan dynamic range by using a dedicated customized scan
Authors: Kaufmann A. , Walker S. 
Published: March 2016

RationaleThe intrascan dynamic range of modern Orbitrap instrumentation is specified to reach 1:5000, while the interscan dynamic range is significantly larger due to the utilization of the automatic gain control feature. There are some applications (e.g. residue analysis in complex matrices, metabolomics or structural elucidation) where a wider intrascan dynamic range is desirable.MethodsThe Application Programming Interface (API) of the Q Exactive Orbitrap mass spectrometer has been used to program a customized scan in order to cover a larger intrascan dynamic range. Different approaches were used, which were all based on the variation of the isolation time of low‐abundance versus high‐abundance mass range segments. The differently attenuated mass range segments isolated by the quadrupole were sequentially forwarded to the C‐trap. Finally, the accumulated mass segments were measured within the Orbitrap analyzer.ResultsThe spectra obtained by the customized scans show an enlarged dynamic range. This has been demonstrated by monitoring the higher isotope mass peaks (first and second isotope) of a low intensity analyte. Furthermore, a practical application (veterinary drugs in bovine kidney) has been investigated with the proposed customized scan. Analytes eluting within the retention time region of very intense matrix peaks (e.g. peptides) showed improved detectability when utilizing the customized scan.ConclusionsThe extension of the intrascan dynamic range by a customized scan is helpful when analyzing residues which happen to elute together with a dominating matrix peak or within a high ion abundance region (e.g. dead volume). Furthermore, this feature helps in the process of determining the elemental composition of compounds by permitting the investigation of low‐abundance ions (e.g. belonging to the isotopic fine structure of the investigated compound). Copyright © 2016 John Wiley & Sons, Ltd.
A Multi‐scale, Hierarchical Model to Map Riparian Zones
Authors: Salo J. A. , Theobald D. M. 
Published: March 2016

AbstractRiparian zones are important for their contribution to biodiversity and ecosystem services, especially in the western USA where riparian zones occupy a small proportion of the landscape but support a majority of the biodiversity. However, few accurate datasets of riparian zone locations are available over broad spatial extents, and cost efficient methods to map riparian zones at fine spatial resolutions do not currently exist. We created a multi‐scale, hierarchical, and process‐guided method to map the location of riparian zones using readily available, national datasets. We demonstrate the applicably of this straightforward method in the Southern Rockies Ecoregion, where we mapped both current riparian zones (the riparian zone that is not strongly modified by human land uses and is assumed to support natural riparian vegetation) and potential riparian zones (the area that would likely support natural riparian vegetation in the absence of human activity). The overall accuracy of our method for potential and current riparian zones was 92%. The Southern Rockies Ecoregion is composed of 3.1% (±0.3%) potential and 2.5 (±0.2%) current riparian zones, indicating that roughly 21.0% (±0.5%) of riparian zones have been removed by human activities. This modelling approach can be used to create detailed maps of riparian zones to inform regional conservation and management decision‐making, and the methods can be applied to different regions at multiple scales from small watersheds to a national analysis. Copyright © 2016 John Wiley & Sons, Ltd.
Informing Watershed Connectivity Barrier Prioritization Decisions: A Synthesis
Authors: McKay S. K. , Cooper A. R. , Diebel M. W. , Elkins D. , Oldford G. , Roghair C. , Wieferich D. 
Published: March 2016

AbstractWater resources and transportation infrastructure such as dams and culverts provide countless socio‐economic benefits; however, this infrastructure can also disconnect the movement of organisms, sediment, and water through river ecosystems. Trade‐offs associated with these competing costs and benefits occur globally, with applications in barrier addition (e.g. dam and road construction), reengineering (e.g. culvert repair), and removal (e.g. dam removal and aging infrastructure). Barrier prioritization provides a unique opportunity to: (i) restore and reconnect potentially large habitat patches quickly and effectively and (ii) avoid impacts prior to occurrence in line with the mitigation hierarchy (i.e. avoid then minimize then mitigate). This paper synthesizes 46 watershed‐scale barrier planning studies and presents a procedure to guide barrier prioritization associated with connectivity for aquatic organisms. We focus on practical issues informing prioritization studies such as available data sets, methods, techniques, and tools. We conclude with a discussion of emerging trends and issues in barrier prioritization and key opportunities for enhancing the body of knowledge. Copyright © 2016 John Wiley & Sons, Ltd.
Bridging Behavioral Models and Theoretical Concepts: Effectuation and Bricolage in the Opportunity Creation Framework
Authors: Welter Chris , Mauer René , Wuebker Robert J. 
Published: March 2016

Research summaryOpportunity creation, effectuation, and bricolage are three concepts that describe value creation and the central role of entrepreneurial action in that process. Although research often conceptualizes these concepts as interrelated, precisely how they relate to and complement one another and where they diverge remains unclear. This article examines the roots of each of these concepts and their underlying assumptions, organizing them within a unifying conceptual frame. Our analysis reveals a set of entailing implications that can guide future conceptual and empirical work in entrepreneurship, and it advances our understanding of value creation and capture in strategy, organization theory, management, and related fields.Managerial summaryWhat are entrepreneurs doing? At the highest level of abstraction, entrepreneurs are identifying and exploiting opportunities. Recently, several lines of research have examined how certain types of entrepreneurial action can result in forming, rather than merely encountering, opportunities. Scholars engaged in this work have used both deductive and observational approaches, which have been rarely examined jointly or integrated into a comprehensive framework. This article focuses on the literature on opportunity creation, effectuation, and bricolage, examining each of the approaches and their underlying assumptions, and it organizes them within a unifying conceptual frame. Doing so reveals avenues for future work, in particular the development of new theories of opportunity formation, and implications for research in related fields such as strategic management, organization theory, and economics. Copyright © 2016 Strategic Management Society.
Industrial Feasibility of Natural Products Extraction with Microwave Technology
Authors: Ciriminna Rosaria , Carnaroglio Diego , Delisi Riccardo , Arvati Stefano , Tamburino Alfredo , Pagliaro Mario 
Published: March 2016

AbstractThe industrial extraction of natural products based on microwave irradiation of plant material and volumetric heating is now an industrial reality. Besides significant reduction in waste generation, manufacturing biomass extracts via microwave‐assisted extraction (MAE) leads to such technical, economic, and environmental benefits whose entity, we argue, will end the distillation era of solid‐liquid extraction using hydrocarbon solvents.
In‐Situ Spectro–electrochemical Insight Revealing Distinctive Silicon Anode Solid Electrolyte Interphase Formation in a Lithium–ion Battery
Authors: Yang Junfeng , Solomatin Nickolay , Kraytsberg Alexander , Ein‐Eli Yair 
Published: March 2016

AbstractThe formation and evolution of solid electrolyte interphase (SEI) layer on a silicon electrode in 1 m LiPF6 in EC/DMC electrolyte is investigated by in‐situ FTIR spectroscopy. The results point that lithium alkyl carbonates formation is initiated during a lithiation process via a one‐electron reduction of EC/DMC, followed by a free radical reaction. Interesting enough, the studies indicate that most of the SEI material is actually formed in the delithiation process. Carbon dioxide (CO2) generated at low potentials during the shallow lithiation process is consumed during a deeper lithiation process and also during subsequent delithiation processes, resulting in the formation of lithium carbonate.
Tandem gem–dichlorination and nitrile oxide generation from chlorochromene aldoximes: synthesis of a new class of room temperature fluxional 4‐chromanone derivatives
Authors: Dash Ashutosh K. , Jaladanki Chaitanya K. , Maiti Dilip K. , Singh Deepika , Tripathi Anil K. , Gupta Vivek K. , Bharatam Prasad V. , Mukherjee Debaraj 
Published: March 2016

AbstractA tandem one pot reaction involving gem‐dichlorination, hydrolysis and nitrile oxide generation from 7‐alkoxy‐4‐chloro‐2,2‐dimethyl‐2H‐chromene‐6‐carbaldehyde oxime followed by olefin/alkyne cycloaddition has been carried out in good yield at ambient temperature using open flask chemistry. The synthesized 4‐chromanone derivatives show conformational isomerism as determined by VT 1H‐NMR, confirmed by X‐ray crystallography and explained by DFT calculations. This can be a general method for C‐3 electrophilic chlorination of benzopyran derivatives.
Understanding craniosynostosis as a growth disorder
Authors: Flaherty Kevin , Singh Nandini , Richtsmeier Joan T. 
Published: March 2016

Craniosynostosis is a condition of complex etiology that always involves the premature fusion of one or multiple cranial sutures and includes various anomalies of the soft and hard tissues of the head. Steady progress in the field has resulted in identifying gene mutations that recurrently cause craniosynostosis. There are now scores of mutations on many genes causally related to craniosynostosis syndromes, though the genetic basis for the majority of nonsyndromic cases is unknown. Identification of these genetic mutations has allowed significant progress in understanding the intrinsic properties of cranial sutures, including mechanisms responsible for normal suture patency and for pathogenesis of premature suture closure. An understanding of morphogenesis of cranial vault sutures is critical to understanding the pathophysiology of craniosynostosis conditions, but the field is now poised to recognize the repeated changes in additional skeletal and soft tissues of the head that typically accompany premature suture closure. We review the research that has brought an understanding of premature suture closure within our reach. We then enumerate the less well‐studied, but equally challenging, nonsutural phenotypes of craniosynostosis conditions that are well characterized in available mouse models. We consider craniosynostosis as a complex growth disorder of multiple tissues of the developing head, whose growth is also targeted by identified mutations in ways that are poorly understood. Knowledge gained from studies of humans and mouse models for these conditions underscores the diverse, associated developmental anomalies of the head that contribute to the complex phenotypes of craniosynostosis conditions presenting novel challenges for future research. WIREs Dev Biol 2016, 5:429–459. doi: 10.1002/wdev.227This article is categorized under:

Birth Defects > Craniofacial and Nervous System Anomalies
Computational modeling approaches to the dynamics of oncolytic viruses
Authors: Wodarz Dominik 
Published: March 2016

Replicating oncolytic viruses represent a promising treatment approach against cancer, specifically targeting the tumor cells. Significant progress has been made through experimental and clinical studies. Besides these approaches, however, mathematical models can be useful when analyzing the dynamics of virus spread through tumors, because the interactions between a growing tumor and a replicating virus are complex and nonlinear, making them difficult to understand by experimentation alone. Mathematical models have provided significant biological insight into the field of virus dynamics, and similar approaches can be adopted to study oncolytic viruses. The review discusses this approach and highlights some of the challenges that need to be overcome in order to build mathematical and computation models that are clinically predictive.WIREs Syst Biol Med2016, 8:242–252. doi: 10.1002/wsbm.1332This article is categorized under:Analytical and Computational Methods > Computational Methods