bluuebunny/crossref_metadata_2025 huggingface dataset:
Comprehensive Immunohistochemical Study of the SWI/SNF Complex Expression Status in Gastric Cancer Reveals an Adverse Prognosis of SWI/SNF Deficiency in Genomically Stable Gastric Carcinomas
Authors: Glückstein Marie-Isabelle , Dintner Sebastian , Arndt Tim Tobias , Vlasenko Dmytro , Schenkirsch Gerhard , Agaimy Abbas , Müller Gernot , Märkl Bruno , Grosser Bianca
Published: August 2021

The SWI/SNF complex has important functions in the mobilization of nucleosomes and consequently influences gene expression. Numerous studies have demonstrated that mutations or deficiency of one or more subunits can have an oncogenic effect and influence the development, progression, and eventual therapy resistance of tumor diseases. Genes encoding subunits of the SWI/SNF complex are mutated in approximately 20% of all human tumors. This study aimed to investigate the frequency, association with clinicopathological characteristics, and prognosis of immunohistochemical expression of proteins of the SWI/SNF complexes, SMARCA2, SMARCA4 SMARCB1, ARID1A, ARID1B, and PBRM1 in 477 adenocarcinomas of the stomach and gastroesophageal junction. Additionally, the tumors were classified immunohistochemically in analogy to The Cancer Genome Atlas (TCGA) classification. Overall, 32% of cases demonstrated aberrant expression of the SWI/SNF complex. Complete loss of SMARCA4 was detected in three cases (0.6%) and was associated with adverse clinical characteristics. SWI/SNF aberration emerged as an independent negative prognostic factor for overall survival in genomically stable patients in analogy to TCGA. In conclusion, determination of SWI/SNF status could be suggested in routine diagnostics in genomically stable tumors to identify patients who might benefit from new therapeutic options.
Present and Future Research on Anal Squamous Cell Carcinoma
Authors: Spehner Laurie , Boustani Jihane , Cabel Luc , Doyen Jérôme , Vienot Angélique , Borg Christophe , Kim Stefano
Published: August 2021

Squamous cell carcinoma of the anus is an orphan disease, and after more than three decades of no substantial advances in disease knowledge and treatment, it is finally gaining momentum with the arrival of a taxane-based chemotherapy and immunotherapy. Currently, about 20 combination clinical trials with an anti-PD1/L1 are ongoing in localized and advanced stages, in association with radiotherapy, chemotherapy, tumor vaccines, anti-CTLA4, anti-EGFR, or antiangiogenic molecules. Moreover, a new biomarker with high sensitivity and specificity such as HPV circulating tumor DNA (HPV ctDNA) by liquid biopsy, is improving not only the prognostic measurement but also the treatment strategy guidance for this disease. Finally, better understanding of potential targets is reshaping the present and future clinical research in this unique, HPV genotype-16-related disease in the great majority of patients.
Mesenchymal Stem Cell-Derived Exosomes: Applications in Regenerative Medicine
Authors: Hade Mangesh D. , Suire Caitlin N. , Suo Zucai
Published: August 2021

Exosomes are a type of extracellular vesicles, produced within multivesicular bodies, that are then released into the extracellular space through a merging of the multivesicular body with the plasma membrane. These vesicles are secreted by almost all cell types to aid in a vast array of cellular functions, including intercellular communication, cell differentiation and proliferation, angiogenesis, stress response, and immune signaling. This ability to contribute to several distinct processes is due to the complexity of exosomes, as they carry a multitude of signaling moieties, including proteins, lipids, cell surface receptors, enzymes, cytokines, transcription factors, and nucleic acids. The favorable biological properties of exosomes including biocompatibility, stability, low toxicity, and proficient exchange of molecular cargos make exosomes prime candidates for tissue engineering and regenerative medicine. Exploring the functions and molecular payloads of exosomes can facilitate tissue regeneration therapies and provide mechanistic insight into paracrine modulation of cellular activities. In this review, we summarize the current knowledge of exosome biogenesis, composition, and isolation methods. We also discuss emerging healing properties of exosomes and exosomal cargos, such as microRNAs, in brain injuries, cardiovascular disease, and COVID-19 amongst others. Overall, this review highlights the burgeoning roles and potential applications of exosomes in regenerative medicine.
A Percutaneous Catheter Solution as a Spacer for Regurgitant Heart Valve Disease
Authors: Chon Min-Ku , Shin Dong-Hoon , Jung Su-Jin , Park Hyeon-Jun , Kim June-Hong
Published: August 2021

Spacers, such as FORMA (Edwards Lifescience) or Mitraspacer, are used to treat mitral regurgitation or tricuspid regurgitations. However, they require external therapeutic liquid filler injection into the spacer device. This should be leak-tight over the time of implantation, which is a major limitation in device design. Here, we propose a self-expandable spacer with a nitinol inner mesh and expanded poly (tetrafluoroethylene) (ePTFE) coating that also functions as a spacer. We designed nitinol 3D mesh templates, coated with a commercially available low and high durometer ePTFE membrane. Finally, we implanted the spacer into a swine pulmonary artery and right atrium (superior vena cava) as an intervention technique. Twenty-four swine were used, except in two cases suspected of procedural infection. The results were analyzed in the remaining 22 cases and all devices were easily delivered and had good function in self-expansion and implantation. After eight weeks, all individuals were examined for gross and pathological analysis to determine the biological safety of the device. There was no evidence of damage or other abnormalities and increased postoperative endothelialization outside of ePTFE coatings. In conclusion, this study suggests using a self-expandable spacer to complement the medical limitations of the existing filling-type spacer devices.
Predicting People’s Motivation to Engage in Urban Possum Control
Authors: Kaine Geoff , Kirk Nicholas , Kannemeyer Robyn , Stronge Dean , Wiercinski Ben
Published: August 2021

Initiatives such as education, incentives, and regulations are used to change people’s behaviour and thereby achieve policy objectives. Understanding and predicting the willingness of people to change their behaviour in response to an initiative is critical in assessing its likely effectiveness. We present a framework proposed by Kaine et al. (2010) for understanding and predicting the motivation of people to change their behaviour in response to a policy initiative. The framework draws on the marketing concept of ‘involvement’, a measure of motivation. Through application to a predator control case study, we show how the framework may be used to predict people’s responses to a policy initiative and how these predictions might help agencies develop strategies to promote behaviour change.
Cutaneous Melanomas Arising during Childhood: An Overview of the Main Entities
Authors: de la Fouchardière Arnaud , Boivin Felix , Etchevers Heather C. , Macagno Nicolas
Published: August 2021

Cutaneous melanomas are exceptional in children and represent a variety of clinical situations, each with a different prognosis. In congenital nevi, the risk of transformation is correlated with the size of the nevus. The most frequent type is lateral transformation, extremely rare before puberty, reminiscent of a superficial spreading melanoma (SSM) ex-nevus. Deep nodular transformation is much rarer, can occur before puberty, and must be distinguished from benign proliferative nodules. Superficial spreading melanoma can also arise within small nevi, which were not visible at birth, usually after puberty, and can reveal a cancer predisposition syndrome (CDKN2A or CDK4 germline mutations). Prognosis is correlated with classical histoprognostic features (mainly Breslow thickness). Spitz tumors are frequent in adolescents and encompass benign (Spitz nevus), intermediate (atypical Spitz tumor), and malignant forms (malignant Spitz tumor). The whole spectrum is characterized by specific morphology with spindled and epithelioid cells, genetic features, and an overall favorable outcome even if a regional lymph node is involved. Nevoid melanomas are rare and difficult to diagnose clinically and histologically. They can arise in late adolescence. Their prognosis is currently not very well ascertained. A small group of melanomas remains unclassified after histological and molecular assessment.
Quantum Darwinism in a Composite System: Objectivity versus Classicality
Authors: Çakmak Barış , Müstecaplıoğlu Özgür E. , Paternostro Mauro , Vacchini Bassano , Campbell Steve
Published: August 2021

We investigate the implications of quantum Darwinism in a composite quantum system with interacting constituents exhibiting a decoherence-free subspace. We consider a two-qubit system coupled to an N-qubit environment via a dephasing interaction. For excitation preserving interactions between the system qubits, an analytical expression for the dynamics is obtained. It demonstrates that part of the system Hilbert space redundantly proliferates its information to the environment, while the remaining subspace is decoupled and preserves clear non-classical signatures. For measurements performed on the system, we establish that a non-zero quantum discord is shared between the composite system and the environment, thus violating the conditions of strong Darwinism. However, due to the asymmetry of quantum discord, the information shared with the environment is completely classical for measurements performed on the environment. Our results imply a dichotomy between objectivity and classicality that emerges when considering composite systems.
Word2vec Skip-Gram Dimensionality Selection via Sequential Normalized Maximum Likelihood
Authors: Hung Pham Thuc , Yamanishi Kenji
Published: August 2021

In this paper, we propose a novel information criteria-based approach to select the dimensionality of the word2vec Skip-gram (SG). From the perspective of the probability theory, SG is considered as an implicit probability distribution estimation under the assumption that there exists a true contextual distribution among words. Therefore, we apply information criteria with the aim of selecting the best dimensionality so that the corresponding model can be as close as possible to the true distribution. We examine the following information criteria for the dimensionality selection problem: the Akaike’s Information Criterion (AIC), Bayesian Information Criterion (BIC), and Sequential Normalized Maximum Likelihood (SNML) criterion. SNML is the total codelength required for the sequential encoding of a data sequence on the basis of the minimum description length. The proposed approach is applied to both the original SG model and the SG Negative Sampling model to clarify the idea of using information criteria. Additionally, as the original SNML suffers from computational disadvantages, we introduce novel heuristics for its efficient computation. Moreover, we empirically demonstrate that SNML outperforms both BIC and AIC. In comparison with other evaluation methods for word embedding, the dimensionality selected by SNML is significantly closer to the optimal dimensionality obtained by word analogy or word similarity tasks.
A Security-Enhanced Image Communication Scheme Using Cellular Neural Network
Authors: Wen Heping , Xu Jiajun , Liao Yunlong , Chen Ruiting , Shen Danze , Wen Lifei , Shi Yulin , Lin Qin , Liang Zhonghao , Zhang Sihang , Liu Yuxuan , Huo Ailin , Li Tong , Cai Chang , Wen Jiaqian , Zhang Chongfu
Published: August 2021

In the current network and big data environment, the secure transmission of digital images is facing huge challenges. The use of some methodologies in artificial intelligence to enhance its security is extremely cutting-edge and also a development trend. To this end, this paper proposes a security-enhanced image communication scheme based on cellular neural network (CNN) under cryptanalysis. First, the complex characteristics of CNN are used to create pseudorandom sequences for image encryption. Then, a plain image is sequentially confused, permuted and diffused to get the cipher image by these CNN-based sequences. Based on cryptanalysis theory, a security-enhanced algorithm structure and relevant steps are detailed. Theoretical analysis and experimental results both demonstrate its safety performance. Moreover, the structure of image cipher can effectively resist various common attacks in cryptography. Therefore, the image communication scheme based on CNN proposed in this paper is a competitive security technology method.
General Non-Markovian Quantum Dynamics
Authors: Tarasov Vasily E.
Published: August 2021

A general approach to the construction of non-Markovian quantum theory is proposed. Non-Markovian equations for quantum observables and states are suggested by using general fractional calculus. In the proposed approach, the non-locality in time is represented by operator kernels of the Sonin type. A wide class of the exactly solvable models of non-Markovian quantum dynamics is suggested. These models describe open (non-Hamiltonian) quantum systems with general form of nonlocality in time. To describe these systems, the Lindblad equations for quantum observable and states are generalized by taking into account a general form of nonlocality. The non-Markovian quantum dynamics is described by using integro-differential equations with general fractional derivatives and integrals with respect to time. The exact solutions of these equations are derived by using the operational calculus that is proposed by Yu. Luchko for general fractional differential equations. Properties of bi-positivity, complete positivity, dissipativity, and generalized dissipativity in general non-Markovian quantum dynamics are discussed. Examples of a quantum oscillator and two-level quantum system with a general form of nonlocality in time are suggested.
A Fault Diagnosis Method Considering Meteorological Factors for Transmission Networks Based on P Systems
Authors: Chen Xiaotian , Wang Tao , Ying Ruixuan , Cao Zhibo
Published: August 2021

Bad meteorological conditions may reduce the reliability of power communication equipment, which can increase the distortion possibility of fault information in the communication process, hence raising its uncertainty and incompleteness. To address the issue, this paper proposes a fault diagnosis method for transmission networks considering meteorological factors. Firstly, a spiking neural P system considering a meteorological living environment and its matrix reasoning algorithm are designed. Secondly, based on the topology structure of the target power transmission network and the action logic of its protection devices, a diagnosis model based on the spiking neural P system considering the meteorological living environment is built for each suspicious fault transmission line. Following this, the action messages of protection devices and corresponding temporal order information are used to obtain initial pulse values of input neurons of the diagnosis model, which are then modified with the gray fuzzy theory. Finally, the matrix reasoning algorithm of each model is executed in a parallel manner to obtain diagnosis results. Experiment results achieved out on IEEE 39-bus system show the feasibility and effectiveness of the proposed method.
Content Dependent Representation Selection Model for Systems Based on MPEG DASH
Authors: Vlaović Jelena , Rimac-Drlje Snježana , Žagar Drago
Published: August 2021

A standard called MPEG Dynamic Adaptive Streaming over HTTP (MPEG DASH) ensures the interoperability between different streaming services and the highest possible video quality in changing network conditions. The solutions described in the available literature that focus on video segmentation are mostly proprietary, use a high amount of computational power, lack the methodology, model notation, information needed for reproduction, or do not consider the spatial and temporal activity of video sequences. This paper presents a new model for selecting optimal parameters and number of representations for video encoding and segmentation, based on a measure of the spatial and temporal activity of the video content. The model was developed for the H.264 encoder, using Structural Similarity Index Measure (SSIM) objective metrics as well as Spatial Information (SI) and Temporal Information (TI) as measures of video spatial and temporal activity. The methodology that we used to develop the mathematical model is also presented in detail so that it can be applied to adapt the mathematical model to another type of an encoder or a set of encoding parameters. The efficiency of the segmentation made by the proposed model was tested using the Basic Adaptation algorithm (BAA) and Segment Aware Rate Adaptation (SARA) algorithm as well as two different network scenarios. In comparison to the segmentation available in the relevant literature, the segmentation based on the proposed model obtains better SSIM values in 92% of cases and subjective testing showed that it achieves better results in 83.3% of cases.
New Sensor for Medium- and High-Voltage Measurement
Authors: Wetula Andrzej , Bień Andrzej , Parekh Mrunal
Published: August 2021

Measurements of medium and high voltages in a power grid are normally performed with large and bulky voltage transformers or capacitive dividers. Besides installation problems, these devices operate in a relatively narrow frequency band, which limits their usability in modern systems that are saturated with power electronic devices. A sensor that can be installed directly on a wire and can operate without a galvanic connection to the ground may be used as an alternative voltage measurement device. This type of voltage sensor can complement current sensors installed on a wire, forming a complete power acquisition system. This paper presents such a sensor. Our sensor is built using two dielectric elements with different permeability coefficients. A finite element method simulation is used to estimate the parameters of a constructed sensor. Besides simulations, a laboratory model of a sensor was built and tested in a medium-voltage substation. Our results provide a proof of concept for the presented sensor. Some errors in voltage reconstruction have been traced to an oversimplified data acquisition and transmission system, which has to be improved during the further development of the sensor.
Aggregated World Energy Demand Projections: Statistical Assessment
Authors: Mauleón Ignacio
Published: August 2021

The primary purpose of this research is to assess the long-range energy demand assumption made in relevant Roadmaps for the transformation to a low-carbon energy system. A novel interdisciplinary approach is then implemented: a new model is estimated for the aggregated world primary energy demand with long historical time series for world energy, income, and population for the years 1900–2017. The model is used to forecast energy demand in 2050 and assess the uncertainty-derived risk based on the variances of the series and parameters analysed. The results show that large efficiency savings—up to 50% in some cases and never observed before—are assumed in the main Roadmaps. This discrepancy becomes significantly higher when even moderate uncertainty assumptions are taken into account. A discussion on possible future sources of breaks in current patterns of energy supply and demand is also presented, leading to a new conclusion requiring an active political stance to accelerate efficiency savings and lifestyle changes that reduce energy demand, even if energy consumption may be reduced significantly. This will likely include replacing the income-growth paradigm with other criteria based on prosperity or related measures.
Monitoring and Control in Program Management as Effectiveness Drivers in Polish Energy Sector. Diagnosis and Directions of Improvement
Authors: Trzeciak Mateusz , Jonek-Kowalska Izabela
Published: August 2021

The activity of enterprises in the energy sector is complicated by the complexity and capital intensity of the resources and processes used. In the current market conditions, an additional challenge is the implementation of sustainable development, including, in particular, environmental and social goals. These circumstances require efficient and effective management, and this is possible, inter alia, thanks to the use of the project management. However, this approach requires not only implementation, but also professional monitoring and control, which is considered and diagnosed in this article. The purpose of this article is to: (a) verify the programme management areas subject to the monitoring and control process; (b) identify and evaluate the effectiveness of the most frequently used methods in the process of monitoring and control of the programme implementation. A qualitative study using a structured interview was conducted among 21 experts involved in the implementation of programmes from the energy sector. The authors found that energy companies monitor and control programmes in key, but traditional areas such as lead times, costs, risks and benefits. They less often refer to ‘soft’ areas of management, such as: work, communication or quality. In terms of the monitoring and control methodology used, significant discrepancies were found between the methods considered effective and those that are most often used in practice. This requires decisive improvement actions. At the same time, it is worth emphasising that the majority of managers prefer compact and quantifiable forms of monitoring and control, such as: earned value method, Gantt chart and comparing plans to results in individual areas. The sector also lacks a systemic approach to programme management, which should be distinguished from single project management, which is why the authors presented their own approach to solving this problem.
Optimal Air Conditioner Placement Using a Simple Thermal Environment Analysis Method for Continuous Large Spaces with Predominant Advection
Authors: Yamamoto Tatsuhiro , Ozaki Akihito , Lee Myonghyang
Published: August 2021

The number of houses with large, continuous spaces has increased recently. With improvements in insulation performance, it has become possible to efficiently air condition such spaces using a single air conditioner. However, the air conditioning efficiency depends on the placement of the air conditioner. The only way to determine the optimal placement of such air conditioners is to conduct an experiment or use computational fluid dynamic analysis. However, because the analysis is performed over a limited period, it is difficult to consider non-stationarity effects without using an energy simulation. Therefore, in this study, energy simulations and computational fluid dynamics analyses were coupled to develop a thermal environment analysis method that considers non-stationarity effects, and various air conditioner arrangements were investigated to demonstrate the applicability of the proposed method. The accuracy verification results generally followed the experimental results. A case study was conducted using the calculated boundary conditions, and the results showed that the placement of two air conditioners in the target experimental house could provide sufficient air conditioning during both winter and summer. Our results suggest that this method can be used to conduct preliminary studies if the necessary data are available during design or if an experimental house is used.
Control Algorithm for Parallel Connected Offshore Wind Turbine Generators
Authors: Omerdic Emir , Osmic Jakub , O’Donnell Cathal , Omerdic Edin
Published: August 2021

A control algorithm for Parallel Connected Offshore Wind Turbines with permanent magnet synchronous Generators (PCOWTG) is presented in this paper. The algorithm estimates the optimal collective speed of turbines based on the estimated mechanical power of wind turbines without direct measurement of wind speed. In the proposed topology of the wind farm, direct-drive Wind Turbine Generators (WTG) is connected to variable low-frequency AC Collection Grids (ACCG) without the use of individual power converters. The ACCG is connected to a variable low-frequency offshore AC transmission grid using a step-up transformer. In order to achieve optimum wind power extraction, the collective speed of the WTGs is controlled by a single onshore Back to Back converter (B2B). The voltage control system of the B2B converter adjusts voltage by keeping a constant Volt/Hz ratio, ensuring constant magnetic flux of electromagnetic devices regardless of changing system frequency. With the use of PI pitch compensators, wind power extraction for each wind turbine is limited within rated WTG power limits. Lack of load damping in offshore wind parks can result in oscillatory instability of PCOWTG. In this paper, damping torque is increased using P pitch controllers at each WTG that work in parallel with PI pitch compensators.
Parking Pose Generation for Autonomous Freight Collection by Pallet Handling Car-like Robot
Authors: Masood Khayyam , Morales David Pérez , Fremont Vincent , Zoppi Matteo , Molfino Rezia
Published: August 2021

This paper focuses on autonomous navigation for an electric freight vehicle designed to collect freight autonomously using pallet handling robots installed in the vehicle. Apart from autonomous vehicle navigation, the primary hurdle for vehicle autonomy is the autonomous collection of freight irrespective of freight orientation/location. This research focuses on generating parking pose for the vehicle irrespective of the orientation of freight for its autonomous collection. Freight orientation is calculated by capturing the freight through onboard sensors. Afterward, this information creates a parking pose using mathematical equations and knowledge of the vehicle and freight collection limitations. Separate parking spots are generated for separate loading bays of the vehicle depending on the availability of the loading bay. Finally, results are captured and verified for different orientations of freight to conclude the research.
Response of Runoff to Extreme Land Use Change in the Permafrost Region of Northeastern China
Authors: Hu Peng , Cai Tijiu , Sui Fengxiang , Duan Liangliang , Man Xiuling , Cui Xueqing
Published: August 2021

To study the response of runoff to extreme changes in land use, the Soil and Water Assessment Tool (SWAT) model was used to construct historical, extreme, and future scenarios for several major landscape types in a permafrost region of northeastern China. The results show that the SWAT model is applicable in the Tahe River Basin; forestlands, shrublands, wetlands, and grasslands are the main land-use types in this basin, and the transfers among them from 1980–2015 have impacted runoff by less than 5%. Under extreme land use-change scenarios, the simulated runoff decreased from grasslands, to wetlands, shrublands, and finally, forestlands. The conversion of extreme land-use scenarios produces different hydrological effects. When forestland is converted to grassland, runoff increases by 25.32%, when forestland is converted to wetland, runoff increases by 13.34%, and the conversion of shrubland to forestland reduces runoff by 13.25%. In addition, the sensitivity of runoff to different land-use changes was much greater during flood seasons than in dry seasons. Compared to the reference year of 2015, the annual simulated runoff under the two future land-use scenarios (shrublands to forestlands and shrublands to wetland) was less. Also, both future land-use scenarios showed effects to decrease flooding and increased dryness, This study provided important insight into the integrated management of land use and water resources in the Tahe River Basin and the permafrost region of northeastern China.
Efficiency of Wood-Processing Enterprises—Evaluation Based on DEA and MPI: A Comparison between Slovakia and Bulgaria for the Period 2014–2018
Authors: Krišťáková Stanislava , Neykov Nikolay , Antov Petar , Sedliačiková Mariana , Reh Roman , Halalisan Aureliu-Florin , Hajdúchová Iveta
Published: August 2021

The ongoing transition to a low-carbon, sustainable forest-based economy, and the adoption of circular bioeconomy principles in the wood-processing industry is associated with the optimization of natural resources, application of environmentally sustainable production technologies, adoption of technological and organizational innovations, and increased economic efficiency and competitiveness. The implementation of all these measures can help to reach the biggest challenge of our time in the fight against climate change in a cost-effective and competitive way. The aim of this study was to estimate the technical efficiency of wood-processing companies in the Slovak Republic and the Republic of Bulgaria by applying data envelopment analysis (DEA) and the Malmquist productivity index (MPI), and to reveal some factors for efficiency improvements. The economic efficiency evaluation based on official data was performed using selected indices of four wood-processing companies in each country in the period 2014–2018. The study implemented an output-oriented DEA model with constant returns to scale as a nonparametric linear approach for measuring the efficiency of production decision-making units (DMUs). The results obtained revealed that the studied Slovak companies were more efficient with better management in terms of machinery planning and overhead utilization. Markedly, the Bulgarian companies achieved better materials management and current planning quality. Increased economic efficiency of wood-processing enterprises in both countries can be realized through investments in innovative technological improvements, and enhanced research and development activities.
Champ versus Chump: Viewing an Opponent’s Face Engages Attention but Not Reward Systems
Authors: Redden Ralph S. , Gagliardi Greg A. , Williams Chad C. , Hassall Cameron D. , Krigolson Olave E.
Published: August 2021

When we play competitive games, the opponents that we face act as predictors of the outcome of the game. For instance, if you are an average chess player and you face a Grandmaster, you anticipate a loss. Framed in a reinforcement learning perspective, our opponents can be thought of as predictors of rewards and punishments. The present study investigates whether facing an opponent would be processed as a reward or punishment depending on the level of difficulty the opponent poses. Participants played Rock, Paper, Scissors against three computer opponents while electroencephalographic (EEG) data was recorded. In a key manipulation, one opponent (HARD) was programmed to win most often, another (EASY) was made to lose most often, and the third (AVERAGE) had equiprobable outcomes of wins, losses, and ties. Through practice, participants learned to anticipate the relative challenge of a game based on the opponent they were facing that round. An analysis of our EEG data revealed that winning outcomes elicited a reward positivity relative to losing outcomes. Interestingly, our analysis of the predictive cues (i.e., the opponents’ faces) demonstrated that attentional engagement (P3a) was contextually sensitive to anticipated game difficulty. As such, our results for the predictive cue are contrary to what one might expect for a reinforcement model associated with predicted reward, but rather demonstrate that the neural response to the predictive cue was encoding the level of engagement with the opponent as opposed to value relative to the anticipated outcome.
Punishment Strategies across Societies: Conventional Wisdoms Reconsidered
Authors: Suleiman Ramzi , Samid Yuval
Published: August 2021

Experiments using the public goods game have repeatedly shown that in cooperative social environments, punishment makes cooperation flourish, and withholding punishment makes cooperation collapse. In less cooperative social environments, where antisocial punishment has been detected, punishment was detrimental to cooperation. The success of punishment in enhancing cooperation was explained as deterrence of free riders by cooperative strong reciprocators, who were willing to pay the cost of punishing them, whereas in environments in which punishment diminished cooperation, antisocial punishment was explained as revenge by low cooperators against high cooperators suspected of punishing them in previous rounds. The present paper reconsiders the generality of both explanations. Using data from a public goods experiment with punishment, conducted by the authors on Israeli subjects (Study 1), and from a study published in Science using sixteen participant pools from cities around the world (Study 2), we found that: 1. The effect of punishment on the emergence of cooperation was mainly due to contributors increasing their cooperation, rather than from free riders being deterred. 2. Participants adhered to different contribution and punishment strategies. Some cooperated and did not punish (‘cooperators’); others cooperated and punished free riders (‘strong reciprocators’); a third subgroup punished upward and downward relative to their own contribution (‘norm-keepers’); and a small sub-group punished only cooperators (‘antisocial punishers’). 3. Clear societal differences emerged in the mix of the four participant types, with high-contributing pools characterized by higher ratios of ‘strong reciprocators’, and ‘cooperators’, and low-contributing pools characterized by a higher ratio of ‘norm keepers’. 4. The fraction of ‘strong reciprocators’ out of the total punishers emerged as a strong predictor of the groups’ level of cooperation and success in providing the public goods.
Rhythmic Regulation of DNA Methylation Factors and Core-Clock Genes in Brain Structures Activated by Cocaine or Sucrose: Potential Role of Chromatin Remodeling
Authors: Saad Lamis , Kalsbeek Andries , Zwiller Jean , Anglard Patrick
Published: August 2021

The circadian system interacts with the mesocorticolimbic reward system to modulate reward and memory in a time-of-day dependent manner. The circadian discrimination of reward, however, remains difficult to address between natural reinforcers and drugs of abuse. Circadian rhythms control cocaine sensitization and conversely cocaine causes long-term alteration in circadian periodicity in part through the serotonergic neurotransmission. Since neural circuits activated by cocaine and natural reinforcers do not completely overlap, we compared the effect of cocaine with that of sucrose, a strong reinforcer in rodents, by using passive chronic administration. The expression of fifteen genes playing a major role in DNA methylation (Dnmts, Tets), circadian rhythms (Clock, Bmal1, Per1/2, Cry1/2, Rev-Erbβ, Dbp1), appetite, and satiety (Orexin, Npy) was analyzed in dopamine projection areas like the prefrontal cortex, the caudate putamen, and the hypothalamus interconnected with the reward system. The corresponding proteins of two genes (Orexin, Per2) were examined by IHC. For many factors controlling biological and cognitive functions, striking opposite responses were found between the two reinforcers, notably for genes controlling DNA methylation/demethylation processes and in global DNA methylation involved in chromatin remodeling. The data are consistent with a repression of critical core-clock genes by cocaine, suggesting that, consequently, both agents differentially modulate day/night cycles. Whether observed cocaine and sucrose-induced changes in DNA methylation in a time dependent manner are long lasting or contribute to the establishment of addiction requires further neuroepigenetic investigation. Understanding the mechanisms dissociating drugs of abuse from natural reinforcers remains a prerequisite for the design of selective therapeutic tools for compulsive behaviors.
Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization
Authors: Rodríguez-López Raquel , Gimeno-Ferrer Fátima , Montesinos Elena , Ferrer-Bolufer Irene , Luján Carola Guzmán , Albuquerque David , Cataluña Carolina Monzó , Ballesteros Virginia , Pérez-Gramunt Monserrat Aleu
Published: August 2021

Jacobsen syndrome or JBS (OMIM #147791) is a contiguous gene syndrome caused by a deletion affecting the terminal q region of chromosome 11. The phenotype of patients with JBS is a specific syndromic phenotype predominately associated with hematological alterations. Complete and partial JBS are differentiated depending on which functional and causal genes are haploinsufficient in the patient. We describe the case of a 6-year-old Bulgarian boy in which it was possible to identify all of the major signs and symptoms listed by the Online Mendelian Inheritance in Man (OMIM) catalog using the Human Phenotype Ontology (HPO). Extensive blood and marrow tests revealed the existence of thrombocytopenia and leucopenia, specifically due to low levels of T and B cells and low levels of IgM. Genetic analysis using whole-genome single nucleotide polymorphisms (SNPs)/copy number variations (CNVs) microarray hybridization confirmed that the patient had the deletion arr[hg19]11q24.3q25(128,137,532–134,938,470)x1 in heterozygosis. This alteration was considered causal of partial JBS because the essential BSX and NRGN genes were not included, though 30 of the 96 HPO identifiers associated with this OMIM were identified in the patient. The deletion of the FLI-1, ETS1, JAM3 and THYN1 genes was considered to be directly associated with the immunodeficiency exhibited by the patient. Although immunodeficiency is widely accepted as a major sign of JBS, only constipation, bone marrow hypocellularity and recurrent respiratory infections have been included in the HPO as terms used to refer to the immunological defects in JBS. Exhaustive functional analysis and individual monitoring are required and should be mandatory for these patients.
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families
Authors: Juntas Morales Raul , Perrin Aurélien , Solé Guilhem , Lacourt Delphine , Pegeot Henri , Walther-Louvier Ulrike , Cintas Pascal , Cances Claude , Espil Caroline , Theze Corinne , Zenagui Reda , Yauy Kevin , Cosset Elodie , Renard Dimitri , Rigau Valerie , Maues de Paula Andre , Uro-Coste Emmanuelle , Arne-Bes Marie-Christine , Martin Négrier Marie-Laure , Leboucq Nicolas , Acket Blandine , Malfatti Edoardo , Biancalana Valérie , Metay Corinne , Richard Pascale , Rendu John , Rivier François , Koenig Michel , Cossée Mireille
Published: August 2021

Diagnosis of myopathies is challenged by the high genetic heterogeneity and clinical overlap of the various etiologies. We previously reported a Next-Generation Sequencing strategy to identify genetic etiology in patients with undiagnosed Limb-Girdle Muscular Dystrophies, Congenital Myopathies, Congenital Muscular Dystrophies, Distal Myopathies, Myofibrillar Myopathies, and hyperCKemia or effort intolerance, using a large gene panel including genes classically associated with other entry diagnostic categories. In this study, we report the comprehensive clinical-biological strategy used to interpret NGS data in a cohort of 156 pediatric and adult patients, that included Copy Number Variants search, variants filtering and interpretation according to ACMG guidelines, segregation studies, deep phenotyping of patients and relatives, transcripts and protein studies, and multidisciplinary meetings. Genetic etiology was identified in 74 patients, a diagnostic yield (47.4%) similar to previous studies. We identified 18 patients (10%) with causative variants in different genes (ACTA1, RYR1, NEB, TTN, TRIP4, CACNA1S, FLNC, TNNT1, and PAPBN1) that resulted in milder and/or atypical phenotypes, with high intrafamilial variability in some cases. Mild phenotypes could mostly be explained by a less deleterious effect of variants on the protein. Detection of inter-individual variability and atypical phenotype-genotype associations is essential for precision medicine, patient care, and to progress in the understanding of the molecular mechanisms of myopathies.
Sequencing and de Novo Assembly of Abaca (Musa textilis Née) var. Abuab Genome
Authors: Galvez Leny Calano , Koh Rhosener Bhea Lu , Barbosa Cris Francis Cortez , Asunto Jayson Calundre , Catalla Jose Leonido , Atienza Robert Gomez , Costales Kennedy Trinidad , Aquino Vermando Masinsin , Zhang Dapeng
Published: August 2021

Abaca (Musa textilis Née), an indigenous crop to the Philippines, is known to be the source of the strongest natural fiber. Despite its huge economic contributions, research on crop improvement is limited due to the lack of genomic data. In this study, the whole genome of the abaca var. Abuab was sequenced using Illumina Novaseq 6000 and Pacific Biosciences Single-Molecule Real-Time Sequel. The genome size of Abuab was estimated to be 616 Mbp based on total k-mer number and volume peak. Its genome was assembled at 65× depth, mapping 95.28% of the estimated genome size. BUSCO analysis recovered 78.2% complete BUSCO genes. A total of 33,277 gene structures were predicted which is comparable to the number of predicted genes from recently assembled Musa spp. genomes. A total of 330 Mbp repetitive elements were also mined, accounting to 53.6% of the genome length. Here we report the sequencing and genome assembly of the abaca var. Abuab that will facilitate gene discovery for crop improvement and an indispensable source for genetic diversity studies in Musa.
Cardiomyocyte-Specific Circulating Cell-Free Methylated DNA in Esophageal Cancer Patients Treated with Chemoradiation
Authors: Martinez Roth Sarah , Vietsch Eveline E. , Barefoot Megan E. , Schmidt Marcel O. , Park Matthew D. , Ramesh Archana , Lindberg Michael R. , Giaccone Giuseppe , Riegel Anna T. , Barac Ana , Unger Keith , Wellstein Anton
Published: August 2021

Thoracic high-dose radiation therapy (RT) for cancer has been associated with early and late cardiac toxicity. To assess altered rates of cardiomyocyte cell death due to RT we monitored changes in cardiomyocyte-specific, cell-free methylated DNA (cfDNA) shed into the circulation. Eleven patients with distal esophageal cancer treated with neoadjuvant chemoradiation to 50.4 Gy (RT) and concurrent carboplatin and paclitaxel were enrolled. Subjects underwent fasting blood draws prior to the initiation and after completion of RT as well as 4–6 months following RT. An island of six unmethylated CpGs in the FAM101A locus was used to identify cardiomyocyte-specific cfDNA in serum. After bisulfite treatment this specific cfDNA was quantified by amplicon sequencing at a depth of >35,000 reads/molecule. Cardiomyocyte-specific cfDNA was detectable before RT in the majority of patient samples and showed some distinct changes during the course of treatment and recovery. We propose that patient-specific cardiac damages in response to the treatment are indicated by these changes although co-morbidities may obscure treatment-specific events.
Social Media and Health: Emerging Trends and Future Directions for Research on Young Adults
Authors: Wu Peng , Feng Ran
Published: August 2021

The ubiquity and affordances of social media have allowed young people to become both active posters and passive recipients of communication related to health. For instance, people may post exercise goals and behaviors on social media, while at the same time, they may be exposed to friends drinking alcohol and/or indulging in unhealthy snacking. This intersection of sociotechnical systems (i.e., social media), and health and wellbeing, has garnered increasing scholarly attention. How to understand and manage the continuous use intention of health-related social media, and then provide a better service platform and create a good service model for the needs of young adults has become an important topic in the research of social media and health-related fields. Based on the SOR theory, this paper constructs a theoretical model of factors affecting the continuous use intention of health-related social media. This paper uses questionnaires and structural equation empirical research methods, relevant software to process and analyze the data, and tests the applicability of the model. The results reveal that emotional support, information support, and service quality can significantly affect pan-family consciousness, pan-family consciousness can significantly affect the continuous use intention of health-related social media. In addition, our results also show that pan-family consciousness plays a mediating role between information support and the continuous use intention of health-related social media, pan-family consciousness plays a mediating role between the service quality and the continuous use intention of health-related social media, and self-efficacy plays a mediating role between pan-family consciousness and the continuous use intention of health-related social media. These findings have important implications for research and practice in the fields of the continuous use intention of health-related social media. We hope to help with the emerging trends and future directions for research on social media and health.
‘Improving Health through Reducing Stress’: Parents’ Priorities in the Participatory Development of a Multilevel Family Health Programme in a Low-Income Neighbourhood in The Netherlands
Authors: Wink Gerda , Fransen Gerdine , Huisman Merel , Boersma Sandra , van Disseldorp Lieke , van der Velden Koos , Wagemakers Annemarie , van den Muijsenbergh Maria
Published: August 2021

In order to reduce health inequities, a socio-ecological approach and community engagement are needed to develop sustained interventions with a positive effect on the health of disadvantaged groups. This qualitative study was part of the development phase of a community health promotion programme. The study aimed to provide insight into the perceptions of parents in a disadvantaged neighbourhood about health, and their priorities for the community health programme. It also described the process of integrating these perceptions in the development of a multilevel plan for this programme. Participatory methods were applied to enable the engagement of all groups involved. Ten parents from a low-income neighbourhood in the Netherlands participated in five panel sessions. Parents’ priorities for improving family health were reducing chronic stress and not so much healthy eating and physical activity. They prioritised solutions to reduce their financial stress, to provide a safe place for their children to meet and play and to establish good quality communication with authorities. The programme development process resulted in objectives in which both parents and professionals were willing to invest, such as a safe playground for children. This study shows that target population engagement in health programme development is possible and valuable.