bluuebunny/crossref_metadata_2025 huggingface dataset:
A new mixed‐effects mixture model for constrained longitudinal data
Authors: Di Brisco Agnese Maria , Migliorati Sonia
Published: November 2019

Biomedical research often features continuous responses bounded by the interval [0, 1]. The well‐known beta regression model addresses the constrained nature of these data, while its augmented and mixed‐effects variants can address the presence of zeros and/or ones and longitudinal or clustered response values, respectively. However, these models are not robust to the presence of outliers and/or excessive number of observations near the tails. We propose a new augmented mixed‐effects regression model based on a special beta mixture distribution that is capable of handling these issues. Extensive simulation studies show the superiority of the proposed model to the models most often used in the literature. The proposed model is applied to two real datasets: one taken from a long‐term study of Parkinson's disease and the other taken from a study on reading accuracy.
Glutathione Depletion in a Benign Manner by MoS2‐Based Nanoflowers for Enhanced Hypoxia‐Irrelevant Free‐Radical‐Based Cancer Therapy
Authors: Wu Si , Liu Xinping , Ren Jinsong , Qu Xiaogang
Published: November 2019

Tumor hypoxia significantly diminishes the efficacy of reactive oxygen species (ROS)‐based therapy, mainly because the generation of ROS is highly oxygen dependent. Recently reported hypoxia‐irrelevant radical initiators (AIBIs) exhibit promising potential for cancer therapy under different oxygen tensions. However, overexpressed glutathione (GSH) in cancer cells would potently scavenge the free radicals produced from AIBI before their arrival to the specific site and dramatically limit the therapeutic efficacy. A synergistic antitumor platform (MoS2@AIBI‐PCM nanoflowers) is constructed by incorporating polyethylene‐glycol‐functionalized molybdenum disulfide (PEG‐MoS2) nanoflowers with azo initiator and phase‐change material (PCM). Under near‐infrared laser (NIR) irradiation, the photothermal feature of PEG‐MoS2 induces the decomposition of AIBI to produce free radicals. Furthermore, PEG‐MoS2 can facilitate GSH oxidation without releasing toxic metal ions, greatly promoting tumor apoptosis and avoiding the introduction of toxic metal ions. This is the first example of the use of intelligent MoS2‐based nanoflowers as a benign GSH scavenger for enhanced cancer treatment.
Facilitating program performance profiling via evolutionary symbolic execution
Authors: Aquino Andrea , Braione Pietro , Denaro Giovanni , Salza Pasquale
Published: November 2019

Performance profiling can benefit from test cases that hit high‐cost executions of programs. In this paper, we investigate the problem of automatically generating test cases that trigger the worst‐case execution of programs and propose a novel technique that solves this problem with an unprecedented combination of symbolic execution and evolutionary algorithms. Our technique, which we refer to as ‘Evolutionary Symbolic Execution’, embraces the execution cost of the program paths as the fitness function to pursue the worst execution. It defines an original set of evolutionary operators, based on symbolic execution, which suitably sample the possible program paths to make the search process effective. Specifically, our technique defines a memetic algorithm that (i) incrementally evolves by steering symbolic execution to traverse new program paths that comply with execution conditions combined and refined from the currently collected worse program paths and (ii) periodically applies local optimizations to the execution conditions of the worst currently identified program path to further speed up the identification of the worst path. We report on a set of initial experiments indicating that our technique succeeds in generating good worst‐case test cases for programs with which existing approaches cannot cope. Also, we show that, as far as the problem of generating worst‐case test cases is concerned, the distinguishing evolutionary operators based on symbolic execution that we define in this paper are more effective than traditional operators that directly manipulate the program inputs.
Experimental study on the mechanical properties and the microstructure of hybrid‐fiber‐reinforced concrete under an early stage
Authors: Huang Hua , Yuan Yujian , Zhang Wei , Zhu Liang
Published: November 2019

Based on the fixed aspect ratio of 650 for carbon fiber (CF) in hybrid‐fiber‐reinforced concrete (HFRC), this study investigated the effect of polypropylene fiber (PPF) and the aramid fiber (AF) aspect ratio on the mechanical properties of HFRC under the early stage. For this purpose, compressive, splitting tensile, and flexural tests were carried out to obtain the optimal hybridization parameters with respect to the aspect ratio of polypropylene fiber (PPF‐AR) and aramid fiber (AF‐AR) in HFRC. Additionally, the microstructure of HFRC was also examined by scanning electron microscope method to investigate the bond properties between fiber and a concrete matrix. It can be found from the results that the failure modes of overall tests are a ductile failure. The enhancement of tensile strength is attributed to PPF‐AR, whereas AF‐AR mainly tends to improve the performance in compressive and flexural strength. Meanwhile, the aspect ratio of fibers has little effect on the tensile‐to‐compressive‐strength ratio (TC‐R) or the flexural‐to‐compressive‐strength ratio (FC‐R) of early‐stage HFRC.
Effect of soil properties on the seismic damage assessment of historical masonry minaret–soil interaction systems
Authors: Hökelekli Emin , Al‐Helwani Amjad
Published: November 2019

The interaction between soil and structure plays a crucial role on accurate determination of structures' seismic behavior. The assumption of fixed base structure has been commonly used in traditional design works, and the interaction between soil and structure is thus often neglected. In addition, historical masonry structures particularly built on elastic soil media may be significantly affected seismic behavior of the structure under earthquakes. In this research, the damage distribution on a historical masonry minaret is numerically investigated under horizontal earthquake ground motion. Alaca Mosque minaret was built in 1271 in Bolvadin district of Afyon province. The historical masonry minaret was chosen as the subject of the study. Nonlinear seismic time history analyses were conducted for fixed‐based and different soil properties under horizontal earthquake ground motion. The horizontal (East–West) component acceleration records of Dinar earthquake (Mw = 6.1) that took place on October 10, 1995, were used during the analyses. Maximum displacement, maximum/minimum principal stresses, and damage ratios were determined by nonlinear analyses performed considering fixed base and soil–structure interaction. The analysis results showed that soil–structure interaction had significant effect on the structural behavior of the minaret, such that, the minaret that was expected to get damage in the case of fixed base did not get any damage when soil–structure interaction was considered.
Correction to: Changing Structures and the Role of Education in the Development of the Educational System in Czechia
Authors: Kučerová Silvie Rita , Trnková Kateřina , Meyer Petr
Published: November 2019

This book was inadvertently published with incorrect affiliation of the Chapter 7 author Silvie R. Kučerová.
The Internet 3.0
Authors: Stjernfelt Frederik , Lauritzen Anne Mette
Published: November 2019

On September 11, 2001, Internet users searched Google for information on the unfathomable events taking place in Manhattan. But the search “New York Twin Towers” came up with no hits. A full month had passed since the words “twin towers” had last been indexed. This meant that at this crucial moment, the term as a search object had not been updated. All the search results Google came up with were frustratingly irrelevant for the acute needs of the users. As an emergency solution, Google created a breaking news page featuring “News and Information on the US Attacks”, which was placed on top of the search list. The page featured links to the websites of news outlets and other news organizations as well as useful links to aid organizations, emergency aid, phone numbers of airlines and hospitals. This episode made Google, during the following year, develop a news filter as part of its search algorithm. This meant that current headlines now came up on top of the search list when a user entered the relevant search words.
Teaching Systematic Review
Authors: Nind Melanie
Published: November 2019

This chapter is about teaching systematic review; it is not, however, the product of a systematic review. It combines and builds on insights from two sets of research experiences: being taught about how to conduct systematic reviews ahead of doing this myself, and more recently, conducting study of the Pedagogy of Methodological Learning for the National Centre for Research Methods in the UK. The latter engaged teachers and learners in the process of building capability and capacity in the co-construction of understandings of what is important in teaching and learning advanced social science research methods, including systematic review. The chapter advocates teaching systematic review in ways that support critical thinking, utilising deep knowledge of the method and a willingness to be reflexive and open about its messy realities.
Reparametrization modes, shadow operators, and quantum chaos in higher-dimensional CFTs
Authors: Haehl Felix M. , Reeves Wyatt , Rozali Moshe
Published: November 2019

Abstract

We study two novel approaches to efficiently encoding universal constraints imposed by conformal symmetry, and describe applications to quantum chaos in higher dimensional CFTs. The first approach consists of a reformulation of the shadow operator formalism and kinematic space techniques. We observe that the shadow operator associated with the stress tensor (or other conserved currents) can be written as the descendant of a field ε with negative dimension. Computations of stress tensor contributions to conformal blocks can be systematically organized in terms of the “soft mode” ε, turning them into a simple diagrammatic perturbation theory at large central charge.

Our second (equivalent) approach concerns a theory of reparametrization modes, generalizing previous studies in the context of the Schwarzian theory and two-dimensional CFTs. Due to the conformal anomaly in even dimensions, gauge modes of the conformal group acquire an action and are shown to exhibit the same dynamics as the soft mode ε that encodes the physics of the stress tensor shadow. We discuss the calculation of the conformal partial waves or the conformal blocks using our effective field theory. The separation of conformal blocks from shadow blocks is related to gauging of certain symmetries in our effective field theory of the soft mode.

These connections explain and generalize various relations between conformal blocks, shadow operators, kinematic space, and reparametrization modes. As an application we study thermal physics in higher dimensions and argue that the theory of reparametrization modes captures the physics of quantum chaos in Rindler space. This is also supported by the observation of the pole skipping phenomenon in the conformal energy-energy two-point function on Rindler space.
Sex differences in metabolic regulation and diabetes susceptibility
Authors: Tramunt Blandine , Smati Sarra , Grandgeorge Naia , Lenfant Françoise , Arnal Jean-François , Montagner Alexandra , Gourdy Pierre
Published: November 2019

Gender and biological sex impact the pathogenesis of numerous diseases, including metabolic disorders such as diabetes. In most parts of the world, diabetes is more prevalent in men than in women, especially in middle-aged populations. In line with this, considering almost all animal models, males are more likely to develop obesity, insulin resistance and hyperglycaemia than females in response to nutritional challenges. As summarised in this review, it is now obvious that many aspects of energy balance and glucose metabolism are regulated differently in males and females and influence their predisposition to type 2 diabetes. During their reproductive life, women exhibit specificities in energy partitioning as compared with men, with carbohydrate and lipid utilisation as fuel sources that favour energy storage in subcutaneous adipose tissues and preserve them from visceral and ectopic fat accumulation. Insulin sensitivity is higher in women, who are also characterised by higher capacities for insulin secretion and incretin responses than men; although, these sex advantages all disappear when glucose tolerance deteriorates towards diabetes. Clinical and experimental observations evidence the protective actions of endogenous oestrogens, mainly through oestrogen receptor α activation in various tissues, including the brain, the liver, skeletal muscle, adipose tissue and pancreatic beta cells. However, beside sex steroids, underlying mechanisms need to be further investigated, especially the role of sex chromosomes, fetal/neonatal programming and epigenetic modifications. On the path to precision medicine, further deciphering sex-specific traits in energy balance and glucose homeostasis is indeed a priority topic to optimise individual approaches in type 2 diabetes prevention and treatment.
Subsidy Entrepreneurs: an Inquiry into Firms Seeking Public Grants
Authors: Gustafsson Anders , Tingvall Patrik Gustavsson , Halvarsson Daniel
Published: November 2019

This paper studies the incentives and characteristics of firms that apply for, and eventually receive, one or multiple governmental grants intended to stimulate innovation and growth. The analysis departs from a contest model in which entrepreneurs are free to allocate their effort between production and seeking grants. The results suggest that highly productive entrepreneurs abstain from seeking grants, moderately productive firms allocate a share of their effort to grant seeking, and low-productivity firms allocate most resources to seeking grants. Due to their efforts in seeking grants, these low-productive subsidy entrepreneurs also have a relatively high probability of receiving the grants. Using comprehensive data over grants from the three largest grant-distributing agencies in Sweden, we find concordant evidence of a negative relation between the probability of receiving a grant and firm productivity. As we go from single- to multiple-grant-supported firms, this negative relation becomes more pronounced.
Monitoring the side effects with DSC caused by cyclophosphamide treatment
Authors: Farkas Péter , Könczöl Franciska , Lőrinczy Dénes
Published: November 2019

Polyneuropathy is defined as a simultaneous malfunction of several peripheral nerves, which could be a side effect of a cancer therapy (using cyclophosphamide) as well. In the daily use, it is very important to know the kinetics and metabolism of anticancer drugs because this way we can estimate their undesirable consequences to avoid the unwanted complications. Nowadays, the application of DSC in diagnosis of different diseases using blood compounds is increasing; therefore, the purpose of recent study was to introduce at the first time the DSC in the detection of cyclophosphamide-induced changes in plasma and red blood cells in case of an experimental animal model. Guinea pigs (Cavia porcellus, n = 60, in 12 different groups) underwent to cyclophosphamide treatment administrated intraperitoneally with the dose comparable to the human dosage. At the end of treatments, the animals were euthanized, and the experimental samples (plasma end red blood cells) were analyzed by a SETARAM Micro DSC-II calorimeter. The denaturation temperatures and the calorimetric enthalpies were calculated from the heat flow curves. Our results exhibited a dose-dependent difference between thermal parameters of untreated and treated samples, demonstrating that DSC is applicable in this field too. After deconvolution of DSC scans, the changes could be assigned to the attacked compounds. Recently published papers call the attention for this technique more frequently in the medical diagnosis because this way from small amount of sample very quickly and economically possible to detect and predict the expected and unwanted side effects of chemotherapeutic agents.
Robotic grasp detection based on image processing and random forest
Authors: Zhang Jiahao , Li Miao , Feng Ying , Yang Chenguang
Published: November 2019

Real-time grasp detection plays a key role in manipulation, and it is also a complex task, especially for detecting how to grasp novel objects. This paper proposes a very quick and accurate approach to detect robotic grasps. The main idea is to perform grasping of novel objects in a typical RGB-D scene view. Our goal is not to find the best grasp for every object but to obtain the local optimal grasps in candidate grasp rectangles. There are three main contributions to our detection work. Firstly, an improved graph segmentation approach is used to do objects detection and it can separate objects from the background directly and fast. Secondly, we develop a morphological image processing method to generate candidate grasp rectangles set which avoids us to search grasp rectangles globally. Finally, we train a random forest model to predict grasps and achieve an accuracy of 94.26%. The model is mainly used to score every element in our candidate grasps set and the one gets the highest score will be converted to the final grasp configuration for robots. For real-world experiments, we set up our system on a tabletop scene with multiple objects and when implementing robotic grasps, we control Baxter robot with a different inverse kinematics strategy rather than the built-in one.
Evaluation of surface EMG-based recognition algorithms for decoding hand movements
Authors: Abbaspour Sara , Lindén Maria , Gholamhosseini Hamid , Naber Autumn , Ortiz-Catalan Max
Published: November 2019

Myoelectric pattern recognition (MPR) to decode limb movements is an important advancement regarding the control of powered prostheses. However, this technology is not yet in wide clinical use. Improvements in MPR could potentially increase the functionality of powered prostheses. To this purpose, offline accuracy and processing time were measured over 44 features using six classifiers with the aim of determining new configurations of features and classifiers to improve the accuracy and response time of prosthetics control. An efficient feature set (FS: waveform length, correlation coefficient, Hjorth Parameters) was found to improve the motion recognition accuracy. Using the proposed FS significantly increased the performance of linear discriminant analysis, K-nearest neighbor, maximum likelihood estimation (MLE), and support vector machine by 5.5%, 5.7%, 6.3%, and 6.2%, respectively, when compared with the Hudgins’ set. Using the FS with MLE provided the largest improvement in offline accuracy over the Hudgins feature set, with minimal effect on the processing time. Among the 44 features tested, logarithmic root mean square and normalized logarithmic energy yielded the highest recognition rates (above 95%). We anticipate that this work will contribute to the development of more accurate surface EMG-based motor decoding systems for the control prosthetic hands.
Operationalising transformative sustainability science through place-based research: the role of researchers
Authors: Horlings Lummina G. , Nieto-Romero Marta , Pisters Siri , Soini Katriina
Published: November 2019

Among scholars in sustainability science, there is an increasing recognition of the potential of place-based research in the context of transformative change towards sustainability. In this research, researchers may have a variety of roles; these are determined by the researcher’s engagement with the subject, the inherent theoretical, normative and methodological choices he or she makes, the researcher’s ambitions in contributing to change, and ethical issues. This article explores the varied roles of research fellows within the European Marie Curie ITN research program on sustainable place-shaping (SUSPLACE). By analysing 15 SUSPLACE projects and reflecting on the roles of researchers identified by Wittmayer and Schäpke (Sustain Sci 9(4):483–496, 2014) we describe how the fellows’ theoretical positionality, methods applied, and engagement in places led to different research roles. The methodology used for the paper is based on an interactive process, co-producing knowledge with Early Stage Researchers (fellows) of the SUSPLACE consortium. The results show a range of place meanings applied by the fellows. Varied methods are used to give voice to participants in research and to bring them together for joint reflection on values, networks and understandings, co-creating knowledge. Multiple conceptualisations of ‘sustainability’ were used, reflecting different normative viewpoints. These choices and viewpoints resulted in fellows each engaging in multiple roles, exploring various routes of sustainable place-shaping, and influencing place-relations. Based on our findings we introduce a framework for the ‘embodied researcher’: a researcher who is engaged in research with their ‘brain, heart, hands and feet’ and who integrates different roles during the research process.
Designing Preclinical Studies in Germline Gene Editing: Scientific and Ethical Aspects
Authors: Nordgren Anders
Published: November 2019

Human germline gene editing is often debated in hypothetical terms: if it were safe and efficient, on what further conditions would it then be ethically acceptable? This paper takes another course. The key question is: how can scientists reduce uncertainty about safety and efficiency to a level that may justify initiation of first-time clinical trials? The only way to proceed is by well-designed preclinical studies. However, what kinds of investigation should preclinical studies include and what specific conditions should they satisfy in order to be considered well-designed? It is argued that multispecies and multigenerational animal studies are needed as well as human embryo editing without implantation. In order to be possible to translate to first-time clinical trials, animal studies need to satisfy strict conditions of validity. Moreover, embryo studies intended for translation to first-time clinical trials need to correspond to the animal studies in experimental design (with exception of implantation). Only in this way can uncertainty about risk for harm (safety) and prospect of benefit (efficiency) in first-time clinical trials be reduced to a modest level. If uncertainty is not reduced to such a level, first-time clinical trials in germline gene editing should not be initiated.
Environmental factors and asthma hospitalization in Montreal, Canada, during spring 2006–2008: a synergy perspective
Authors: Robichaud Alain , Comtois Paul
Published: November 2019

The aim of this study is to analyze the synergy between environmental factors (pollutant, allergenic birch pollen, weather) and its relationship with asthma hospitalization in Montreal, Canada. The data is stratified into weather types and the study restricted to spring season to limit the impact of multiple confounders. Results shows that the daily count of asthma hospitalization (spring 2006–2008) in situation of warm fronts or trowals (daily average of 3.78 counts, CI 95% 2.95–4.61) was much higher (p < 0.001) than in other situations (2.49 counts, CI 95% 2.37–2.71). Moreover, the explained variance of asthma hospitalization due to air pollution rises from about less than 7% (in the case of no stratification) to about 28% (R = 0.53, p < 0.05 with stratification). Statistical tests for interaction and overall results point towards a synergy between environmental factors which exacerbates asthma. A new concept named frontal asthma is proposed to explain several results found here and in the open literature.
Pancreatic Islet Transcriptional Enhancers and Diabetes
Authors: Cebola Inês
Published: November 2019

Purpose of Review

Common genetic variants that associate with type 2 diabetes risk are markedly enriched in pancreatic islet transcriptional enhancers. This review discusses current advances in the annotation of islet enhancer variants and their target genes.

Recent Findings

Recent methodological advances now allow genetic and functional mapping of diabetes causal variants at unprecedented resolution. Mapping of enhancer-promoter interactions in human islets has provided a unique appreciation of the complexity of islet gene regulatory processes and enabled direct association of noncoding diabetes risk variants to their target genes.

The recently improved human islet enhancer annotations constitute a framework for the interpretation of diabetes genetic signals in the context of pancreatic islet gene regulation. In the future, integration of existing and yet to come regulatory maps with genetic fine-mapping efforts and in-depth functional characterization will foster the discovery of novel diabetes molecular risk mechanisms.
Collagen fingerprinting and the Chumash billfish fishery, Santa Barbara Channel, California, USA
Authors: Rick Torben , Harvey Virginia L. , Buckley Michael
Published: November 2019

Billfish from the families Xiphiidae (swordfish) and Istiophoridae (marlins and sailfish) are large, often pelagic fishes that are highly migratory. Although some billfish have been the target of global commercial and sport fisheries for decades, prehistoric billfish foraging is relatively rare, but includes systematic swordfish (Xiphias gladius) and/or striped marlin (Kajikia audax) exploitation in the Santa Barbara Channel region of California, the Gulf of Maine, and the northern coast of Chile. While whole vertebrae, rostra, and other elements can often be identified to species, fragments of these, or other non-diagnostic elements such as fin ray spines, as well as modified bones, are difficult to determine to species-level beyond general identification as billfish or “large fish.” We performed collagen fingerprinting on modern (n = 17) and archaeological (n = 30) billfish and large tuna (Scombridae) remains from museum collections and Chumash archaeological sites in California’s Santa Barbara Channel region to test this method for determining the species of fragmentary remains. These data demonstrate that collagen fingerprinting can distinguish between the families Istiophoridae, Xiphiidae, and Scombridae, although distinguishing between species within Istiophoridae needs additional research. All but one of our archaeological specimens are from swordfish, with just one striped marlin, suggesting that the Chumash were likely encountering or targeting swordfish more frequently than other billfish species. Our study demonstrates that collagen fingerprinting is an important technique for documenting ancient billfish and other fisheries around the world.
Association between thiopurine medication exposure and Alzheimer's disease among a cohort of patients with inflammatory bowel disease
Authors: Sutton S.Scott , Magagnoli Joseph , Cummings Tammy , Hardin James W.
Published: November 2019

Introduction

Ras‐related C3 botulinum toxin substrate 1 (Rac1), a member of the Rho‐GTPase family of proteins, could be an Alzheimer's disease (AD) triggering co‐factor due to its effect on both amyloid precursor protein (APP) and tau. Thiopurine medications, such as azathioprine and mercaptopurine, are immunosuppressants that suppress Rac1 activation. We hypothesize that due to their ability to suppress Rac1, thiopurines are associated with a lower risk of AD.

Methods

To explore the relationship between thiopurines and incident AD diagnosis, we conducted a national retrospective cohort study among U.S. Veterans with inflammatory bowel disease (IBD), including Crohn's disease (CD) or ulcerative colitis (UC), as well as a non‐IBD control. We created propensity score‐matched cohorts and estimated the hazard ratio via the time‐dependent Cox proportional hazards model.

Results

The study sample size was 66,312 patients and consisted of 24,057 IBD patients (4354 thiopurine exposed and 19,703 unexposed) and 42,255 patients without IBD or thiopurine exposure. Patients exposed to thiopurines have the lowest rate of AD, and our results demonstrate for each additional year of thiopurine exposure risk of AD is reduced by 8.3%% (adjusted HR = 0.917; 95% CI = [0.851–0.989]).

Discussion

Our results support the preclinical findings implicating Rac1 in the AD disease process. A national cohort study demonstrated that Rac1 is associated with the AD process consistent with the preclinical evidence. Further exploration and evaluation of Rac1 inhibition are needed.
Editorial
Authors: Mansfield-Devine Steve
Published: November 2019

Pretty much everyone uses a computer these days. But very few people have more than a superficial understanding of how their software and hardware work and how to maintain them. And criminals are only too happy to capitalise on this ignorance.
SINGULARITY OF ORIENTED GRAPHS FROM SEVERAL CLASSES
Authors: CHEN XIAOXUAN , YANG JING , GENG XIANYA , WANG LONG
Published: November 2019

A digraph is called oriented if there is at most one arc between two distinct vertices. An oriented graph $D$ is nonsingular if its adjacency matrix $A(D)$ is nonsingular. We characterise all nonsingular oriented graphs from three classes: graphs in which cycles are vertex disjoint, graphs in which all cycles share exactly one common vertex and graphs formed by cycles sharing a common path. As a straightforward corollary, the singularity of oriented bicyclic graphs is determined.
A novelMYBPC3c.2737+1 (IVS26) G>T mutation responsible for high-risk hypertrophic cardiomyopathy
Authors: Tong Wuyang , Liu Wei , Guo Hong , Wang Jiang , Yu Shiyong , Zhang Jihang , Liu Chuan , Chen Jia , Zhao Xiaohui
Published: November 2019

Background:

Hypertrophic cardiomyopathy is an autosomal dominant hereditary disease characterised by left ventricular asymmetry hypertrophy. However, our knowledge of the genetic background in hypertrophic cardiomyopathy cases is limited. Here, we aimed to evaluate pathogenic gene mutations in a family with high-risk hypertrophic cardiomyopathy and analyse the genotype/phenotype relationships in this family.

Methods:

The proband, her parents, and her niece underwent whole-exome sequencing, and the genotypes of family members were identified using Sanger sequencing. mRNA expression was detected using reverse transcription sequencing. Structural impairments were predicted by homologous modelling. A family survey was conducted for patients with positive results to obtain information on general clinical symptoms, electrocardiography, ambulatory electrocardiography, echocardiography, and 3.0T cardiac magnetic resonance findings. Regular follow-up was performed for up to 6 months.

Results:

Five family members, including the proband, carried a cleavage site mutation in theMYBPC3gene (c.2737+1 (IVS26) G>T), causing exon 26 of theMYBPC3gene transcript to be skipped and leading to truncation of cardiac myosin-binding protein C. Family survey showed that the earliest onset age was 13 years old, and three people had died suddenly at less than 40 years old. Three pathogenic gene carriers were diagnosed with hypertrophic cardiomyopathy, and all showed severe ventricular septal hypertrophy.

Conclusion:

The c.2737+1 (IVS26) G>T mutation in theMYBPC3gene led to exon 26 skipping, thereby affecting the structure and function of cardiac myosin-binding protein C and leading to severe ventricular hypertrophy and sudden death.
Contrasting Hydroclimatic Model‐Data Agreements Over the Nordic‐Arctic Region
Authors: Bring A. , Goldenberg R. , Kalantari Z. , Prieto C. , Ma Y. , Jarsjö J. , Destouni G.
Published: November 2019

Rapid changes in high‐latitude hydroclimate have important implications for human societies and environment. Previous studies of different regions have indicated better agreement between climate model results and observation data for the thermodynamic variable of surface air temperature (T) than for the water variables of precipitation (P), evapotranspiration (ET), and runoff (R). Here we compare climate model output with observations for 64 Nordic and Arctic hydrological basins of different sizes, and for the whole region combined. We find an unexpectedly high agreement between models and observations for R, about as high as the model‐observation agreement for T and distinctly higher than that for P or ET. Model‐observation agreement for R and T is also consistently higher on the whole‐region scale than individual basin scales. In contrast, model‐observation agreement for P and ET is overall lower, and for some error measures also lower for the whole region than for individual basins of various scales. Region‐specific soil freeze–thaw bias of climate models can at least partly explain the low model‐observation agreement for P and ET, while leaving modeled R relatively unaffected. Thereby, model projections for this region may be similarly reliable and directly useful for large‐scale average conditions of R as of T.
Sound Velocities in Shock‐Synthesized Stishovite to 72 GPa
Authors: Berryman Eleanor J. , Winey J. M. , Gupta Yogendra M. , Duffy Thomas S.
Published: November 2019

Stishovite (rutile‐type SiO2) is the archetype of dense silicates and may occur in postgarnet eclogitic rocks at lower‐mantle conditions. Sound velocities in stishovite are fundamental to understanding its mechanical and thermodynamic behavior at high pressure and temperature. Here, we use plate‐impact experiments combined with velocity interferometry to determine the stress, density, and longitudinal sound speed in stishovite formed during shock compression of fused silica at 44 GPa and above. The measured sound speeds range from 12.3(8) km/s at 43.8(8) GPa to 9.8(4) km/s at 72.7(11) GPa. The decrease observed at 64 GPa reflects a decrease in the shear modulus of stishovite, likely due to the onset of melting. By 72 GPa, the measured sound speed agrees with the theoretical bulk sound speed indicating loss of all shear stiffness due to complete melting. Our sound velocity results provide direct evidence for shock‐induced melting, in agreement with previous pyrometry data.
Improved Quantification of Global Mean Ocean Mass Change Using GRACE Satellite Gravimetry Measurements
Authors: Chen Jianli , Tapley Byron , Seo Ki‐Weon , Wilson Clark , Ries John
Published: November 2019

Global mean ocean mass change derived from the Gravity Recovery and Climate Experiment (GRACE) gravity solutions generally agrees well with ocean mass change inferred from satellite altimeter sea surface height and Argo floats observations during the period January 2005 to December 2015. However, there is a systematic annual phase lag (~10°) between GRACE and Altimeter‐Argo estimates. This phase lag is attributed to the enforced mass conservation in GRACE gravity solutions, in which the ΔC00 coefficients (representing changes in total Earth mass) are set to zero. After a correct implementation of global mass conservation by removing global mean atmospheric mass from the GRACE solutions using atmospheric model predictions, the annual phase lag is nearly completely gone, yielding significantly improved agreement between GRACE and Altimeter‐Argo estimates. In addition, retaining GRACE ΔJ2 coefficients provides better GRACE ocean mass estimates at both seasonal and long‐term time scales.
Magnetic Reconnection in Three Dimensions: Modeling and Analysis of Electromagnetic Drift Waves in the Adjacent Current Sheet
Authors: Ergun R. E. , Hoilijoki S. , Ahmadi N. , Schwartz S. J. , Wilder F. D. , Drake J. F. , Hesse M. , Shay M. A. , Ji H. , Yamada M. , Graham D. B. , Cassak P. A. , Swisdak M. , Burch J. L. , Torbert R. B. , Holmes J. C. , Stawarz J. E. , Goodrich K. A. , Eriksson S. , Strangeway R. J. , LeContel O.
Published: November 2019

We present a model of electromagnetic drift waves in the current sheet adjacent to magnetic reconnection at the subsolar magnetopause. These drift waves are potentially important in governing 3‐D structure of subsolar magnetic reconnection and in generating turbulence. The drift waves propagate nearly parallel to the X line and are confined to a thin current sheet. The scale size normal to the current sheet is significantly less than the ion gyroradius and can be less than or on the order of the wavelength. The waves also have a limited extent along the magnetic field (B), making them a three‐dimensional eigenmode structure. In the current sheet, the background magnitudes of B and plasma density change significantly, calling for a treatment that incorporates an inhomogeneous plasma environment. Using detailed examination of Magnetospheric Multiscale observations, we find that the waves are best represented by series of electron vortices, superimposed on a primary electron drift, that propagate along the current sheet (parallel to the X line). The waves displace or corrugate the current sheet, which also potentially displaces the electron diffusion region. The model is based on fluid behavior of electrons, but ion motion must be treated kinetically. The strong electron drift along the X line is likely responsible for wave growth, similar to a lower hybrid drift instability. Contrary to a classical lower hybrid drift instability, however, the strong changes in the background B and no, the normal confinement to the current sheet, and the confinement along B are critical to the wave description.
Jupiter's Dark Polar Region as Observed by the Hubble Space Telescope During the Juno Approach Phase
Authors: Swithenbank‐Harris B. G. , Nichols J. D. , Bunce E. J.
Published: November 2019

We present an analysis of Jupiter's dark polar region, previously described as a crescent‐shaped region devoid of emission along the dawnside poleward of the main oval. Using ultraviolet images obtained by the Hubble Space Telescope between days of year 137 and 176, coupled with interplanetary data captured during the approach phase of the NASA Juno spacecraft, we examine the morphology and variability of the dark polar region and the influence of solar wind conditions on the region. We find that the dark polar region is more variable than previously thought and in particular shows significant variability during compressions of the magnetosphere by the solar wind. Duskward extensions of the dark polar region through the noon sector are often observed during periods of deep rarefaction in the solar wind, while a larger dark polar region width is observed nearer to local noon under solar wind compression. Intensity distributions of the dark polar region reveal a greater probability of lower emission intensity during deep rarefactions. Calculation of the magnetic flux associated with the dark polar region returns lower flux values than previous estimates of the total open flux at Jupiter. This may suggest that either the dark polar region does not account for the entirety of the open flux region, or the magnetotail is not composed of only open flux, as previously suggested.
Strength of Laboratory Synthesized Hydrate‐Bearing Sands and Their Relationship to Natural Hydrate‐Bearing Sediments
Authors: Priest Jeffrey A. , Hayley Jocelyn L.
Published: November 2019

The strength of hydrate‐bearing sediments is an important input parameter for numerical simulations for evaluating the long‐term future gas production from these sediments and the risks associated with such activities on the environment. Studies on laboratory synthesized, and natural, hydrate‐bearing coarse‐grained soils exhibit similar behavior, where increasing hydrate saturation increases specimen strength and stiffness with the corresponding development of peak stress, postpeak strain softening and tendency for sample dilation, which is suppressed with increasing effective stress, although strength is increased. For synthesized specimens, hydrate growth at grain contacts leads to “cementing” behavior and the largest increase in strength, which is subdued when hydrate growth is prevented at these locations. Sample disturbance in natural samples lead to lower strength and stiffness compared to laboratory synthesized samples. Unconfined compression shear tests on natural samples highlight the strong “cementing” effect of gas hydrates on coarse‐grained soils. The strength of natural sediments appears strongly correlated with particle size and clay content, with smaller particle and increasing clay content reducing strength for a given hydrate saturation. The strength parameters, friction angle, and cohesion appear to depend on sample type. For synthesized specimens, friction angle was reasonably independent of hydrate saturation while cohesion increased in an exponential manner, with the largest increase occurring when hydrate growth is at particle contacts. In contrast, friction angle appeared to increase with a corresponding reduction in cohesion for natural hydrate‐bearing sediments. However, these observations may be related to sample disturbance and stress conditions under which the data were acquired.
A Statistical Analysis of the Propagating Quasi 16‐Day Waves at High Latitudes and Their Response to Sudden Stratospheric Warmings From 2005 to 2018
Authors: Gong Yun , Wang Hongling , Ma Zheng , Zhang Shaodong , Zhou Qihou , Huang Chunming , Huang Kaiming
Published: November 2019

This study presents an analysis of the long‐term variations of four propagating quasi 16‐day waves with Wavenumbers 1 and 2 and investigates their association with sudden stratospheric warming (SSW) events. The study is based on the data obtained from Aura Microwave Limb Sounder satellite and Modern‐Era Retrospective Analysis for Research and Applications‐2 reanalysis data in the period from 2004 to 2018. Strong quasi 16‐day waves are found in the winter hemisphere. The propagating waves with Wavenumber 1 are prominent in the Northern Hemisphere and eastward‐propagating waves are dominant in the Southern Hemisphere. By analyzing 14 SSW events, we found that the westward‐propagating quasi 16‐day waves increase rapidly around the onset dates of the major SSWs, which is likely associated with the quickly reduced mean eastward background winds. Based on analysis of geopotential height, Ertel potential vorticity and Eliassen‐Palm flux, the propagating quasi 16‐day waves with Wavenumbers 1 and 2, (mainly from westward‐propagating components) contribute to the formation of the vortex displaced and vortex split SSWs, respectively.
A Scale‐Aware Parameterization for Estimating Subgrid Variability of Downward Solar Radiation Using High‐Resolution Digital Elevation Model Data
Authors: He Siwei , Smirnova Tatiana G. , Benjamin Stanley G.
Published: November 2019

Subgrid variability of solar downward radiation at the surface can be important in estimating subgrid variability of other radiation‐driven variables, such as snowmelt and soil temperature. However, this information is ignored in current hydrological and weather prediction models as only the mean downward solar radiation of model grid is used. In this study, a parameterization for estimating subgrid variability of downward solar radiation from the model grid mean using high‐resolution digital elevation model (DEM) data is proposed. This scheme considers aspect and slope effects on the subgrid variability. The advantage of this scheme is that computations are performed at the same resolution as the considered hydrological or weather prediction model, and subgrid topographic properties derived from high‐resolution DEM data are used as static inputs. This proposed scheme has been verified in mountainous and flat areas, respectively. It is found that the scheme can well estimate the subgrid variability of downward solar radiation. Also, effects of the DEM resolution on the calculated subgrid variability and the spatial correlation of downward solar radiation are studied. Results show that modeled subgrid variability highly depends on the resolution of the DEM, while the spatial correlation is negligibly time dependent. The proposed scheme can be used in any hydrological and weather prediction model to estimate subgrid variability of downward solar radiation. For example, it is planned to be tested in future NOAA regional and global weather models to account for the effects of the subgrid variability of downward solar radiation on the snow model of the land‐surface component.
Mental Health Promotion Behaviors Associated With a 6-Month Follow-Up on Job-Related Mood Among Japanese Workers
Authors: Shimazaki Takashi , Uechi Hiroaki , Takenaka Koji
Published: November 2019

Job stress and death from overwork (Karoshi) are serious health concerns in Japan. This observational study examined the relationship between baseline mental health promotion behaviors (MHPBs; physical activity, weekday cultural activities, enriching activities during vacations, interpersonal communication, relaxation, volunteering, interest and participation in new activities, and group affiliation) and condition of job-related mood (vigor, anger–irritability, fatigue, anxiety, and depression) at a 6-month follow-up to promote the resolution of mental health problems among Japanese employees of small- to medium-sized enterprises. Baseline and follow-up surveys were conducted with N = 635 participants. Participants reported their current engagement in MHPBs and current level of job-related mood as vigor (a positive mood state in the form of energy and enthusiasm for the job), anger–irritability, fatigue, anxiety, and depression. Structural equation modeling showed MHPBs to predict vigor, fatigue, and depression at both baseline and follow-up. Baseline MHPBs and job-related mood were carried over to a 6-month follow-up. Baseline job-related mood was found to mediate the relationship between baseline MHPBs and follow-up job-related mood. These findings suggest that engagement in MHPBs has contributed to improving job-related mood, especially vigor in Japanese workers, and may be applicable in other international settings.
Correction: Premature activation of Cdk1 leads to mitotic events in S phase and embryonic lethality
Authors: Szmyd Radoslaw , Niska-Blakie Joanna , Diril M. Kasim , Nunes Patrícia Renck , Tzelepis Konstantinos , Lacroix Aurélie , van Hul Noémi , Deng Lih-Wen , Matos Joao , Dreesen Oliver , Bisteau Xavier , Kaldis Philipp
Published: November 2019

An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Correction: A phylogenomic and ecological analysis of the globally abundant Marine Group II archaea (Ca. Poseidoniales ord. nov.)
Authors: Rinke Christian , Rubino Francesco , Messer Lauren F , Youssef Noha , Parks Donovan H , Chuvochina Maria , Brown Mark , Jeffries Thomas , Tyson Gene W , Seymour Justin R , Hugenholtz Philip
Published: November 2019

An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Author Correction: MEG3 long noncoding RNA regulates the TGF-β pathway genes through formation of RNA–DNA triplex structures
Authors: Mondal Tanmoy , Subhash Santhilal , Vaid Roshan , Enroth Stefan , Uday Sireesha , Reinius Björn , Mitra Sanhita , Mohammed Arif , James Alva Rani , Hoberg Emily , Moustakas Aristidis , Gyllensten Ulf , Jones Steven J. M. , Gustafsson Claes M. , Sims Andrew H. , Westerlund Fredrik , Gorab Eduardo , Kanduri Chandrasekhar
Published: November 2019

An amendment to this paper has been published and can be accessed via a link at the top of the paper.