bluuebunny/crossref_metadata_2025 huggingface dataset:
Comprehensive Library Generation for Identification and Quantification of Endometrial Cancer Protein Biomarkers in Cervico-Vaginal Fluid
Authors: Njoku Kelechi , Chiasserini Davide , Geary Bethany , Pierce Andrew , Jones Eleanor R. , Whetton Anthony D. , Crosbie Emma J.
Published: July 2021

Endometrial cancer is the most common gynaecological malignancy in high-income countries and its incidence is rising. Early detection, aided by highly sensitive and specific biomarkers, has the potential to improve outcomes as treatment can be provided when it is most likely to effect a cure. Sequential window acquisition of all theoretical mass spectra (SWATH-MS), an accurate and reproducible platform for analysing biological samples, offers a technological advance for biomarker discovery due to its reproducibility, sensitivity and potential for data re-interrogation. SWATH-MS requires a spectral library in order to identify and quantify peptides from multiplexed mass spectrometry data. Here we present a bespoke spectral library of 154,206 transitions identifying 19,394 peptides and 2425 proteins in the cervico-vaginal fluid of postmenopausal women with, or at risk of, endometrial cancer. We have combined these data with a library of over 6000 proteins generated based on mass spectrometric analysis of two endometrial cancer cell lines. This unique resource enables the study of protein biomarkers for endometrial cancer detection in cervico-vaginal fluid. Data are available via ProteomeXchange with unique identifier PXD025925.
The Complement System in Ovarian Cancer: An Underexplored Old Path
Authors: Senent Yaiza , Ajona Daniel , González-Martín Antonio , Pio Ruben , Tavira Beatriz
Published: July 2021

Ovarian cancer is one of the most lethal gynecological cancers. Current therapeutic strategies allow temporary control of the disease, but most patients develop resistance to treatment. Moreover, although successful in a range of solid tumors, immunotherapy has yielded only modest results in ovarian cancer. Emerging evidence underscores the relevance of the components of innate and adaptive immunity in ovarian cancer progression and response to treatment. Particularly, over the last decade, the complement system, a pillar of innate immunity, has emerged as a major regulator of the tumor microenvironment in cancer immunity. Tumor-associated complement activation may support chronic inflammation, promote an immunosuppressive microenvironment, induce angiogenesis, and activate cancer-related signaling pathways. Recent insights suggest an important role of complement effectors, such as C1q or anaphylatoxins C3a and C5a, and their receptors C3aR and C5aR1 in ovarian cancer progression. Nevertheless, the implication of these factors in different clinical contexts is still poorly understood. Detailed knowledge of the interplay between ovarian cancer cells and complement is required to develop new immunotherapy combinations and biomarkers. In this context, we discuss the possibility of targeting complement to overcome some of the hurdles encountered in the treatment of ovarian cancer.
Targeting Primary Motor Cortex (M1) Functional Components in M1 Gliomas Enhances Safe Resection and Reveals M1 Plasticity Potentials
Authors: Rossi Marco , Viganò Luca , Puglisi Gugliemo , Conti Nibali Marco , Leonetti Antonella , Gay Lorenzo , Sciortino Tommaso , Fornia Luca , Callipo Vincenzo , Lamperti Marta , Riva Marco , Cerri Gabriella , Bello Lorenzo
Published: July 2021

Primary-Motor-Cortex (M1) hosts two functional components, at its posterior and anterior borders, being the first faster and more excitable. We developed a mapping-technique for M1 components identification and determined their functional cortical-subcortical architecture in M1 gliomas and the impact of their identification on tumor resection and motor performance. A novel advanced mapping technique was used in 102 tumors within M1 or CorticoSpinal-Tract to identify M1-two components. High-Frequency-stimulation (2–5 pulses) with an on-line qualitative and quantitative analysis of motor responses was used; the two components’ cortical/subcortical spatial distribution correlated to clinical, tumor-related factor and patients’ motor outcome; a cohort treated with standard-mapping was used for comparison. The two functional components were always identified on-line; in tumors not affecting M1, its functional segregation was preserved. In M1 tumors, two architectures, both preserving the two components, were disclosed: in 50%, a normal cortical/subcortical architecture emerged, while 50% revealed a distorted architecture with loss of anatomical reference and somatotopy, not associated with tumor histo-molecular features or volume, but with a previous treatment. Motor performance was maintained, suggesting functional compensation. By preserving the highest and resecting the lowest excitability component, the complete-resection increased with low morbidity. The real-time identification of two M1 functional components and the preservation of the highest excitability one increases safe resection, revealing M1 plasticity potentials.
Self-Reported School Difficulties and the Use of the School Nurse Services by Adolescent Students
Authors: Suoniemi Siru , Rantanen Anja , Koivisto Anna-Maija , Joronen Katja
Published: July 2021

Adolescents are increasingly finding school difficult and physical, mental and social problems increase the risk of exclusion. School health services help to identify problems and prevent them from escalating and the school nurse should be consulted when children are struggling academically. This study explored associations between school difficulties and the use of school health nurse services by 73,680 comprehensive school students with median age of 15.3. The study was based on nationally representative data from the 2017 Finnish School Health Promotion study and analyzed by gender. Difficulties in schooling were common and ranged from 9.9–32.7%. Girls reported difficulties more frequently than boys. Having self-reported difficulties was associated with greater use of school health nurse services, with girls seeking help more often than boys with similar issues and more boys saying they had no need for services. In addition, more self-reported difficulties with schooling were associated with unmet need for school health nurse services. School difficulties were associated with greater use of the school health nurse service use when the data were controlled for background factors. This study highlights shortcomings in access to school health nurse services by children with self-reported school difficulties and that girls were more likely report problems and seek help.
Pediatric Patient with Ischemic Stroke: Initial Approach and Early Management
Authors: Klučka Jozef , Klabusayová Eva , Musilová Tereza , Kramplová Tereza , Skříšovská Tamara , Kratochvíl Milan , Kosinová Martina , Horák Ondřej , Ošlejšková Hana , Jabandžiev Petr , Štourač Petr
Published: July 2021

Acute Ischemic Stroke (AIS) in children is an acute neurologic emergency associated with significant morbidity and mortality. Although the incidence of AIS in pediatric patients is considerably lower than in adults, the overall cumulative negative impact of the quality of life could be even higher in children. The age-related variable clinical presentation could result in a delay in diagnosis and could negatively influence the overall outcome. The early management should be based on early recognition, acute transfer to pediatric AIS centre, standardised approach (ABCDE), early neurologic examination together with neuroimaging (preferable Magnetic Resonance Imaging—MRI). The treatment is based on supportive therapy (normoxemia, normocapnia, normotension and normoglycemia) in combination with intravenous/intraarterial thrombolytic therapy and/or mechanical thrombectomy in selected cases. Pediatric stroke centres, together with the implementation of local stroke management protocols, could further improve the outcome of pediatric patients with AIS.
Evaluation of Corrosion Protection Performance of New Polymer Composite Coatings on Carbon Steel in Acid Medium by Electrodeposition Methods
Authors: Branzoi Florina , Băran Adriana , Petrescu Simona
Published: July 2021

In this research, electrodeposition procedure was utilized for the synthesis of a new composite polymer: N-methylpyrrole–Triton–X100/N, N,N-diethylaniline (NMPY-TRX100/NNDEA) used as a coating on carbon steel type OL 37 electrode for corrosion protection. The surfactant Triton–X100, a dopant ion utilized throughout the process of electropolymerization, had a significant impact on the corrosion protection of this composite by impeding the penetration of corrosive ions. PNMPY-TRX100/PNNDEA coatings were successfully realized on the OL37 substrate by a galvanostatic method of synthesis using the solutions 0.1 M NNDEA, 0.1 M MPY, 0.03 M TRX-100, and 0.3 M H2C2O4, at varied current densities (3 mA/cm2, 5 mA/cm2 and 8 mA/cm2) in different molar ratios (1:1, 1:5, 3:2 and 5:1). The deposition was performed for 20 and 30 min. The polymeric composite coatings were characterized electrochemically, spectroscopically, and morphologically by cyclic voltammetry, Fourier transform infrared spectroscopy, and scanning electron microscopy methods. Corrosion protection performance of PNMPY-TRX100/PNNDEA-coated OL 37 was examined through potentiostatic and potentiodynamic polarization, open circuit potential measurements, and electrochemical impedance spectroscopy procedures in 0.5 M H2SO4 media. The corrosion rate of PNPMPY-TRX100/PNNDEA-coated OL 37 was denoted to be around nine times less than that of an uncoated electrode. The corrosion protection yield of the coating was more than 90%. The best effectiveness was realized for PNMPY-TRX-100/PNNDEA by electrodeposition at 5 mA/cm2 current density applied in molar ratios of 5:1 and 3:2, and at 8 mA/cm2 current densities applied in molar ratio 5:1. The outcomes of the corrosion experiments revealed that PNMPY-TRX-100/PNNDEA coatings provide a good anticorrosion protection of OL 37 in corrosive solutions.
An Innovative Ford Sedan with Enhanced Stylistic Design Engineering (SDE) via Augmented Reality and Additive Manufacturing
Authors: Frizziero Leonardo , Santi Gian , Donnici Giampiero , Leon-Cardenas Christian , Ferretti Patrich , Liverani Alfredo , Neri Marco
Published: July 2021

The design of an E segment, executive, midsize sedan car was chosen to fill a gap in the market of the Ford brand and to achieve the goal of innovation looking towards the future. Ford has not owned an E-segment flagship sports sedan for years, since the historic 1960s Falcon. Starting from the latter assumption and considering that the major car manufacturers are currently investing heavily in E-segment cars, it is important to design a new model, which has been called the Eagle. This model proposed here is to fill the gap between Ford and other companies that are already producing sport cars for the electric sector and to complete Ford’s proposal. The presented methodology is based on SDE, on which many design tools are implemented, such as Quality Function Deployment (QFD), Benchmarking (BM), and Top Flop Analysis (TPA). A market analysis follows in order to identify the major competitors and their key characteristics considering style and technology. The results are used to design an innovative car. Based on the most developed stylistic trends, the vehicle is first sketched and then drawn in the 2D and 3D environments for prototyping. This result leads to the possibility of 3D printing the actual model as a maquette using the Fused Deposition Modelling (FDM) technology and testing it in different configurations in Augmented Reality (AR). These two final applications unveil the possibilities of Industry 4.0 as enrichment for SDE and in general rapid prototyping.
Feature Selection for Recommender Systems with Quantum Computing
Authors: Nembrini Riccardo , Ferrari Dacrema Maurizio , Cremonesi Paolo
Published: July 2021

The promise of quantum computing to open new unexplored possibilities in several scientific fields has been long discussed, but until recently the lack of a functional quantum computer has confined this discussion mostly to theoretical algorithmic papers. It was only in the last few years that small but functional quantum computers have become available to the broader research community. One paradigm in particular, quantum annealing, can be used to sample optimal solutions for a number of NP-hard optimization problems represented with classical operations research tools, providing an easy access to the potential of this emerging technology. One of the tasks that most naturally fits in this mathematical formulation is feature selection. In this paper, we investigate how to design a hybrid feature selection algorithm for recommender systems that leverages the domain knowledge and behavior hidden in the user interactions data. We represent the feature selection as an optimization problem and solve it on a real quantum computer, provided by D-Wave. The results indicate that the proposed approach is effective in selecting a limited set of important features and that quantum computers are becoming powerful enough to enter the wider realm of applied science.
Chemical and Mechanical Aspect of Entropy-Exergy Relationship
Authors: Palazzo Pierfrancesco
Published: July 2021

The present research focuses the chemical aspect of entropy and exergy properties. This research represents the complement of a previous treatise already published and constitutes a set of concepts and definitions relating to the entropy–exergy relationship overarching thermal, chemical and mechanical aspects. The extended perspective here proposed aims at embracing physical and chemical disciplines, describing macroscopic or microscopic systems characterized in the domain of industrial engineering and biotechnologies. The definition of chemical exergy, based on the Carnot chemical cycle, is complementary to the definition of thermal exergy expressed by means of the Carnot thermal cycle. These properties further prove that the mechanical exergy is an additional contribution to the generalized exergy to be accounted for in any equilibrium or non-equilibrium phenomena. The objective is to evaluate all interactions between the internal system and external environment, as well as performances in energy transduction processes.
Integration of Portable Sedimentary Microbial Fuel Cells in Autonomous Underwater Vehicles
Authors: Massaglia Giulia , Sacco Adriano , Favetto Alain , Scaltrito Luciano , Ferrero Sergio , Mo Roberto , Pirri Candido F. , Quaglio Marzia
Published: July 2021

In the present work, sedimentary microbial fuel cells (s-MFC) have been proposed as effective tools to power remote sensors in different aquatic environments, thanks to their ability to produce renewable and sustainable energy continuously and autonomously. The present work proposes the optimization of cylindrical sedimentary microbial fuel cells (s-MFC) as a compact and cost-effective system suitable to be integrated as a payload in an Autonomous Underwater Vehicle (AUV). To this purpose, a new AUV payload, named MFC-payload, is designed to host the cylindrical s-MFC and a data acquisition system to collect and store information on the voltage produced by the cell. Its overall performance was evaluated during two field measurement campaigns carried out in the Mediterranean Sea. This investigation demonstrates the power production by s-MFC during operation of the AUV in seawater and analyzes the actual influence of environmental conditions on the output power. This study demonstrates that energy production by s-MFCs integrated in AUV systems is decoupled by the navigation of the autonomous vehicle itself, showing the effectiveness of the application of MFC-based technology as a power payload for environmental analysis. All these latter results demonstrate and confirm the ability of the devices to continuously produce electricity during different AUV operation modes (i.e., depth and speed), while changing environmental conditions (i.e., pressure, temperature and oxygen content) demonstrate that cylindrical s-MFC devices are robust system that can be successfully used in underwater applications.
Thermal Efficiency and Economics of a Boil-Off Hydrogen Re-Liquefaction System Considering the Energy Efficiency Design Index for Liquid Hydrogen Carriers
Authors: Choi Minsoo , Jung Wongwan , Lee Sanghyuk , Joung Taehwan , Chang Daejun
Published: July 2021

This study analyzes the thermodynamic, economic, and regulatory aspects of boil-off hydrogen (BOH) in liquid hydrogen (LH2) carriers that can be re-liquefied using a proposed re-liquefaction system or used as fuel in a fuel cell stack. Five LH2 carriers sailing between two designated ports are considered in a case study. The specific energy consumption of the proposed re-liquefaction system varies from 8.22 to 10.80 kWh/kg as the re-liquefaction-to-generation fraction (R/G fraction) is varied. The economic evaluation results show that the cost of re-liquefaction decreases as the re-liquefied flow rate increases and converges to 1.5 $/kg at an adequately large flow rate. Three energy efficient design index (EEDI) candidates are proposed to determine feasible R/G fractions: an EEDI equivalent to that of LNG carriers, an EEDI that considers the energy density of LH2, and no EEDI restrictions. The first EEDI candidate is so strict that the majority of the BOH should be used as fuel. In the case of the second EEDI candidate, the permittable R/G fraction is between 25% and 33%. If the EEDI is not applied for LH2 carriers, as in the third candidate, the specific life-cycle cost decreases to 67% compared with the first EEDI regulation.
Stochastic Technical Stability Test of a Passenger Railroad Car Crossing a Turnout
Authors: Kisilowski Jerzy , Kowalik-Adamczyk Elżbieta
Published: July 2021

This article presents a definition of stochastic technical stability that was applied to test a mathematical model of a passenger railroad car crossing a turnout with the speed exceeding 160 km/h. Stability defined in this way allows testing of Lyapunov’s stability with disturbances from the track and for a nonlinear system. The STS test of a nonlinear mathematical model of a passenger car was carried out by perturbing the motion of the mathematical model with irregularities originating from the track gauge change and wheelset motion in the direction transverse to the track axis. The main aim of this paper was to determine the influence of various factors and technical conditions on the assessment of the stability of various means of transport. The analysis presented can be used to assess the dynamics of electric vehicles, whose mechanical parameters differ from those of combustion vehicles at present. The area of stable motion in the Lyapunov sense was defined using the STS method. Simulations were performed to determine the trajectory of the wheelset transverse motion. The probability of finding the wheelset in the stable motion area in relation to the rail for a single-point contact was determined. In practice, this is a one-point contact of the wheel with the rail. Conclusions from the conducted research are presented.
Simplified Floating Wind Turbine for Real-Time Simulation of Large-Scale Floating Offshore Wind Farms
Authors: Pham Thanh-Dam , Dinh Minh-Chau , Kim Hak-Man , Nguyen Thai-Thanh
Published: July 2021

Floating offshore wind has received more attention due to its advantage of access to incredible wind resources over deep waters. Modeling of floating offshore wind farms is essential to evaluate their impacts on the electric power system, in which the floating offshore wind turbine should be adequately modeled for real-time simulation studies. This study proposes a simplified floating offshore wind turbine model, which is applicable for the real-time simulation of large-scale floating offshore wind farms. Two types of floating wind turbines are evaluated in this paper: the semi-submersible and spar-buoy floating wind turbines. The effectiveness of the simplified turbine models is shown by a comparison study with the detailed FAST (Fatigue, Aerodynamics, Structures, and Turbulence) floating turbine model. A large-scale floating offshore wind farm including eighty units of simplified turbines is tested in parallel simulation and real-time software (OPAL-RT). The wake effects among turbines and the effect of wind speeds on ocean waves are also taken into account in the modeling of offshore wind farms. Validation results show sufficient accuracy of the simplified models compared to detailed FAST models. The real-time results of offshore wind farms show the feasibility of the proposed turbine models for the real-time model of large-scale offshore wind farms.
A Comparative Study on Opto-Thermal Properties of Natural Clay Bricks Incorporating Dredged Sediments
Authors: Manni Mattia , Frota de Albuquerque Landi Fabiana , Giannoni Tommaso , Petrozzi Alessandro , Nicolini Andrea , Cotana Franco
Published: July 2021

The brick industry is currently facing a shortage of natural resources. Despite this, the demand for construction bricks is progressively increasing. Alternative materials, such as dredged sediments and solid organic waste, have been recently proposed as options to replace natural clay in brick manufacturing. Potential exploitation of dredged sediments in clay bricks is evaluated in this study. The chemical composition of the mixtures and the opto-thermal properties of brick samples, which differed for the dredged sediment content (from 10% to 50% of the clay weight), were investigated. Chemical analyses detected lower concentrations of heavy metals in bricks incorporating dredged sediments (DS). Negligible variations in thermal conductivity, thermal diffusivity, and specific heat were observed by increasing the amount of DS in the mixture. In particular, the thermal conductivity values ranged between 0.45 ± 0.03 W m−1 K−1 (DS-50) and 0.50 ± 0.03 W m−1 K−1 (DS-30). Conversely, the color shift value and spectral reflectance in the infrared field were found directly proportional to the concentration of DS. Using dredged sediments as building material demonstrated to be a solution to the problem of their disposal and the scarcity of raw materials, reducing the global warming score by up to 2.8%.
Microcosm Study on Allelopathic Effects of Leaf Litter Leachates and Purified Condensed Tannins from Kandelia obovata on Germination and Growth of Aegiceras corniculatum
Authors: Lang Tao , Wei Pingping , Chen Xiaoxia , Fu Yijian , Tam Nora Fung-yee , Hu Zhangli , Chen Zhiteng , Li Fenglan , Zhou Haichao
Published: July 2021

Kandelia obovata (Ko) and Aegiceras corniculatum (Ac) are common and dominant plant species in mangrove wetlands in South China, which are distributed in similar tidal zones along the coastline. The present study aimed to determine the allelopathic effects of leaf litter leachates (LLLs) from Ko and their purified condensed tannins (PCTs) on the germination and growth of Ac by mangrove microcosms. Replicate pots containing five different levels of LLLs and PCTs were separately prepared and propagules of Ac were placed in each treatment. Both LLLs and PCTs significantly inhibited the germination and growth of Ac, especially at high concentrations. The final germination rates of the roots and stems and the numbers of fine roots declined continuously, while other growth indicators, including the lengths of fine roots and nutritive roots and the biomasses of roots, stems, and leaves first increased and then decreased with increasing levels. These results indicate that LLLs from the leaf litter of Ko, in particular their PCTs, exerted an inhibition effect on propagule germination and seedling growth of Ac, and the inhibitory effects were concentration dependent. This study suggested that condensed tannins from leaf litter, acting as allelochemicals, could regulate the natural regeneration of a mangrove forest.
Forest Wood through the Eyes of a Cultural Conservator
Authors: Zisi Angeliki
Published: July 2021

If prehistoric and historical time were placed into the time span of the existence of our universe, then the act of archaeology could be defined as the act of digging up what was only buried yesterday. So, conservation is about preserving a moment that has just become past time, yet significant. It is a moment of human creativity and ingenuity. It is not strange that forest wood has become the material to convey such moments. Forest wood is a living, everlasting source growing without human intervention, within reach, easy to use and shape thinking both great and small. It does not have to be a wooden ship; it can be a mere piece of charcoal. For it is what surrounded humans in the past which archaeologists seek and use to weave human history, and what conservators bring back to context by reviving it. This work presents forest wood as an artefact and its preservation challenges as such. It touches on its natural degradation processes through burial, compromised properties and eventual conservation. Both dry and waterlogged wood are included. The overarching aim of this paper is to pay tribute, preserve and inspire the long-standing, open dialog and fruitful collaboration between cultural conservators and forest and wood scientists.
Temporal Comparison of Microbial Community Structure in an Australian Winery
Authors: Varela Cristian , Cuijvers Kathleen , Borneman Anthony
Published: July 2021

Most modern fermented foods and beverages are produced in fit-for-purpose facilities which are designed to ensure not only a reliable product, but also one safe for consumption. Despite careful hygiene, microorganisms can colonise these facilities and establish resident populations that can potentially contribute to the fermentation process. Although some microorganisms may not negatively affect the final product, spoilage microorganisms can be detrimental for quality, generating substantial economic losses. Here, amplicon-based phylotyping was used to map microbial communities within an Australian winery, before, during and after the 2020 vintage. Resident bacterial and yeast populations were shown to change over time, with both relative abundance and location within the winery varying according to sampling date. The bacterial family Micrococcaceae, and the genera Sphingomonas and Brevundimonas were the most abundant bacterial taxonomies, while Naganishia, Pyrenochaeta and Didymella were the most abundant fungal genera. Mapping the spatial distributions of the microbial populations identified the main locations that harboured these resident microorganisms, that include known wine spoilage yeasts and bacteria. Wine spoilage microorganisms, including the genefugura Lactobacillus, Acetobacter, Gluconobacter and Brettanomyces showed very low relative abundance and were found only in a couple of locations within the winery. Microbial populations detected in this facility were also compared to the resident microbiota identified in other fermented food facilities, revealing that microbial population structures may reflect the nature of the product created in each facility.
On the Use of Probability-Based Methods for Estimating the Aerodynamic Boundary-Layer Thickness
Authors: Boiko Andrey V. , Demyanko Kirill V. , Nechepurenko Yuri M. , Zasko Grigory V.
Published: July 2021

In this paper, known probabilistic methods for estimating the thickness of the boundary layer of a two-dimensional laminar flow of viscous incompressible fluid are extended to three-dimensional laminar flows of a viscous compressible medium. Their applicability to the problems of boundary-layer stability is studied with the LOTRAN3 software package, which allows us to compute the position of laminar-turbulent transition in three-dimensional aerodynamic configurations.
Avoiding the “Great Filter”: A Projected Timeframe for Human Expansion Off-World
Authors: Jiang Jonathan H. , Rosen Philip E. , Fahy Kristen A.
Published: July 2021

A foundational model has been developed based on trends built from empirical data of space exploration and computing power through the first six plus decades of the Space Age, which projects the earliest possible launch dates for human-crewed missions from cis-lunar space to selected Solar System and interstellar destinations. The model uses computational power, expressed as transistors per microprocessor, as a key broadly limiting factor for deep space missions’ reach and complexity. The goal of this analysis is to provide a projected timeframe for humanity to become a multi-world species through off-world colonization, and in so doing all but guarantee the long-term survival of the human race from natural and human-caused calamities that could befall life on Earth. Beginning with the development and deployment of the first nuclear weapons near the end of World War II, humanity entered a ‘Window of Peril’, which will not be safely closed until robust off-world colonies become a reality. Our findings suggest that the first human-crewed missions to land on Mars, selected Asteroid Belt objects, and selected moons of Jupiter and Saturn can occur before the end of the 21st century. Launches of human-crewed interstellar missions to exoplanet destinations within roughly 40 lightyears of the Solar System are seen as possible during the 23rd century and launch of intragalactic missions by the end of the 24th century. An aggressive and sustained space exploration program, which includes colonization, is thus seen as critical to the long-term survival of the human race.
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe
Authors: Staretz-Chacham Orna , Amar Shirly , Almashanu Shlomo , Pode-Shakked Ben , Saada Ann , Wormser Ohad , Hershkovitz Eli
Published: July 2021

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a fatty acid and amino acid oxidation defect caused by a deficiency of the electron-transfer flavoprotein (ETF) or the electron-transfer flavoprotein dehydrogenase (ETFDH). There are three phenotypes of the disease, two neonatal forms and one late-onset. Previous studies have suggested that there is a phenotype–genotype correlation. We report on six patients from a single Bedouin tribe, five of whom were sequenced and found to be homozygous to the same variant in the ETFDH gene, with variable severity and age of presentation. The variant, NM_004453.3 (ETFDH): c.524G>A, p.(R175H), was previously recognized as pathogenic, although it has not been reported in the literature in a homozygous state before. R175H is located near the FAD binding site, likely affecting the affinity of FAD for EFT:QO. The single homozygous ETFDH pathogenic variant was found to be causing MADD in this cohort with an unexpectedly variable severity of presentation. The difference in severity could partly be explained by early diagnosis via newborn screening and early treatment with the FAD precursor riboflavin, highlighting the importance of early detection by newborn screening.
Reply to Fabre et al. Comment on “Tanmoy et al. CRISPR-Cas Diversity in Clinical Salmonella enterica Serovar Typhi Isolates from South Asian Countries. Genes 2020, 11, 1365”
Authors: Tanmoy Arif , Saha Chinmoy , Sajib Mohammad , Saha Senjuti , Komurian-Pradel Florence , van Belkum Alex , Louwen Rogier , Saha Samir , Endtz Hubert
Published: July 2021

We respectfully thank Fabre et al. [...]
The Genomic Architecture of Bladder Exstrophy Epispadias Complex
Authors: Beaman Glenda M. , Cervellione Raimondo M. , Keene David , Reutter Heiko , Newman William G.
Published: July 2021

The bladder exstrophy–epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the current knowledge on this multifactorial disorder, including phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components.
Environmental Exposure to Endocrine Disrupting Chemicals Influences Genomic Imprinting, Growth, and Metabolism
Authors: Robles-Matos Nicole , Artis Tre , Simmons Rebecca A. , Bartolomei Marisa S.
Published: July 2021

Genomic imprinting is an epigenetic mechanism that results in monoallelic, parent-of-origin-specific expression of a small number of genes. Imprinted genes play a crucial role in mammalian development as their dysregulation result in an increased risk of human diseases. DNA methylation, which undergoes dynamic changes early in development, is one of the epigenetic marks regulating imprinted gene expression patterns during early development. Thus, environmental insults, including endocrine disrupting chemicals during critical periods of fetal development, can alter DNA methylation patterns, leading to inappropriate developmental gene expression and disease risk. Here, we summarize the current literature on the impacts of in utero exposure to endocrine disrupting chemicals on genomic imprinting and metabolism in humans and rodents. We evaluate how early-life environmental exposures are a potential risk factor for adult metabolic diseases. We also introduce our mouse model of phthalate exposure. Finally, we describe the potential of genomic imprinting to serve as an environmental sensor during early development and as a novel biomarker for postnatal health outcomes.
Genotype Pattern Mining for Pairs of Interacting Variants Underlying Digenic Traits
Authors: Okazaki Atsuko , Horpaopan Sukanya , Zhang Qingrun , Randesi Matthew , Ott Jurg
Published: July 2021

Some genetic diseases (“digenic traits”) are due to the interaction between two DNA variants, which presumably reflects biochemical interactions. For example, certain forms of Retinitis Pigmentosa, a type of blindness, occur in the presence of two mutant variants, one each in the ROM1 and RDS genes, while the occurrence of only one such variant results in a normal phenotype. Detecting variant pairs underlying digenic traits by standard genetic methods is difficult and is downright impossible when individual variants alone have minimal effects. Frequent pattern mining (FPM) methods are known to detect patterns of items. We make use of FPM approaches to find pairs of genotypes (from different variants) that can discriminate between cases and controls. Our method is based on genotype patterns of length two, and permutation testing allows assigning p-values to genotype patterns, where the null hypothesis refers to equal pattern frequencies in cases and controls. We compare different interaction search approaches and their properties on the basis of published datasets. Our implementation of FPM to case-control studies is freely available.
Heat Stress Reduces the Susceptibility of Caenorhabditis elegans to Orsay Virus Infection
Authors: Huang Yuqing , Sterken Mark G. , van Zwet Koen , van Sluijs Lisa , Pijlman Gorben P. , Kammenga Jan E.
Published: July 2021

The nematode Caenorhabditis elegans has been a versatile model for understanding the molecular responses to abiotic stress and pathogens. In particular, the response to heat stress and virus infection has been studied in detail. The Orsay virus (OrV) is a natural virus of C. elegans and infection leads to intracellular infection and proteostatic stress, which activates the intracellular pathogen response (IPR). IPR related gene expression is regulated by the genes pals-22 and pals-25, which also control thermotolerance and immunity against other natural pathogens. So far, we have a limited understanding of the molecular responses upon the combined exposure to heat stress and virus infection. We test the hypothesis that the response of C. elegans to OrV infection and heat stress are co-regulated and may affect each other. We conducted a combined heat-stress-virus infection assay and found that after applying heat stress, the susceptibility of C. elegans to OrV was decreased. This difference was found across different wild types of C. elegans. Transcriptome analysis revealed a list of potential candidate genes associated with heat stress and OrV infection. Subsequent mutant screens suggest that pals-22 provides a link between viral response and heat stress, leading to enhanced OrV tolerance of C. elegans after heat stress.
Repetitive Transcranial Magnetic Stimulation in the Treatment of Alzheimer’s Disease and Other Dementias
Authors: Aloizou Athina-Maria , Pateraki Georgia , Anargyros Konstantinos , Siokas Vasileios , Bakirtzis Christos , Sgantzos Markos , Messinis Lambros , Nasios Grigorios , Peristeri Eleni , Bogdanos Dimitrios P. , Doskas Triantafyllos K. , Tzeferakos Georgios , Dardiotis Efthimios
Published: July 2021

Dementia is a debilitating impairment of cognitive functions that affects millions of people worldwide. There are several diseases belonging to the dementia spectrum, most prominently Alzheimer’s disease (AD), vascular dementia (VD), Lewy body dementia (LBD) and frontotemporal dementia (FTD). Repetitive transcranial magnetic stimulation (rTMS) is a safe, non-invasive form of brain stimulation that utilizes a magnetic coil to generate an electrical field and induce numerous changes in the brain. It is considered efficacious for the treatment of various neuropsychiatric disorders. In this paper, we review the available studies involving rTMS in the treatment of these dementia types. The majority of studies have involved AD and shown beneficial effects, either as a standalone, or as an add-on to standard-of-care pharmacological treatment and cognitive training. The dorsolateral prefrontal cortex seems to hold a central position in the applied protocols, but several parameters still need to be defined. In addition, rTMS has shown potential in mild cognitive impairment as well. Regarding the remaining dementias, research is still at preliminary phases, and large, randomized studies are currently lacking.
Multi-Objective Model-Based Assessment of Green-Grey Infrastructures for Urban Flood Mitigation
Authors: Martínez Carlos , Vojinovic Zoran , Sanchez Arlex
Published: July 2021

This paper presents the performance quantification of different green-grey infrastructures, including rainfall-runoff and infiltration processes, on the overland flow and its connection with a sewer system. The present study suggests three main components to form the structure of the proposed model-based assessment. The first two components provide the optimal number of green infrastructure (GI) practices allocated in an urban catchment and optimal grey infrastructures, such as pipe and storage tank sizing. The third component evaluates selected combined green-grey infrastructures based on rainfall-runoff and infiltration computation in a 2D model domain. This framework was applied in an urban catchment in Dhaka City (Bangladesh) where different green-grey infrastructures were evaluated in relation to flood damage and investment costs. These practices implemented separately have an impact on the reduction of damage and investment costs. However, their combination has been shown to be the best action to follow. Finally, it was proved that including rainfall-runoff and infiltration processes, along with the representation of GI within a 2D model domain, enhances the analysis of the optimal combination of infrastructures, which in turn allows the drainage system to be assessed holistically.
Physical Literacy Assessment Tools: A Systematic Literature Review for Why, What, Who, and How
Authors: Jean de Dieu Habyarimana , Zhou Ke
Published: July 2021

Physical literacy (PL) has been acknowledged to be an individual journey, in view of this contention, objective assessment of such a developing construct has become a debatable issue for the last couple of decades apart from physical domain of observable domain. The purpose of this systematic review was to scrutinise what is currently known regarding the PL assessment tools—the existing PL assessment tools, their pioneers and year of publication, the philosophy behind their initiation, what they have been assessing (assessment domains), the category of population being assessed in relation to their age group, validity of the tools, other scholars notes, as well as the approaches being used, whether assessment for, as or of learning during physical activity participation. The Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) was used to undertake a comprehensive search from six electronic databases—ScienceDirect, Scopus, Eric, PubMed, Google Scholar, and SportDiscus retrieved 52 research articles and review papers, whereby only 22 articles were included after identification, screening, and eligibility selection criteria process. The study established that the majority—70%—of PL assessment tools were developed to promote either fundamental movement skills, athlete development or long-term health and well-being, instead of lifelong participation in physical activity. It was also ascertained that only 30% of PL assessment tools address both three domains comprising PL. Of a particular concern, it was explored that only the International Physical Literacy Association (IPLA) PL matrix takes into account everyone of any age group, while the rest of the others segregate participants falling in a specific age groups to be based on. Afterward, the majority of PL assessment tools were identified at 70% to adopt assessment for learning or at a certain time combination with assessment as learning while assessing individuals’ PL progress. The conclusion was therefore drawn that the overall purpose of PL- to value and take responsibility of engaging in physical activity for life is still largely absent among the majority of existing PL assessment tools and both the ideal of what to assess and who to be assessed are far less to be met, while the effective PL assessment approaches remain critical. After all, in light of this conclusion future agenda has been suggested in view of designing PL assessment tools effective enough to promote PL for all.
Emergency Remote Education, Family Support and the Digital Divide in the Context of the COVID-19 Lockdown
Authors: Sosa Díaz María José
Published: July 2021

To contain the COVID-19 pandemic, governments all over the world implemented strong lockdown measures to a large part of the population, including the closing of educational centres. Teachers were urged to transform their teaching methodology, moving from a face-to-face model to an emergency remote education (ERE) model, characterised by the use of technologies to continue with lectures and maintain the physical distance with the students. The aim of the present study was to analyse the existence of socio-digital inequalities and the educational challenges posed by the development of an ERE model, hence, contributing to the literature by proposing a systematic and holistic approach on this phenomenon. Based on the characteristics of the research problem and the objectives set, a qualitative methodology was applied. On the one hand, a semi-structured interview was conducted with 136 active teachers as the main data gathering technique. On the other hand, grounded theory was key in interpreting the results, with the aim of generating the theory in a systematic and holistic manner. It can be asserted that ERE was very useful during the lockdown of schools, and its potential to transform education was demonstrated. However, it was also shown that the development of an ERE model can cause socio-digital inequalities among students, due to the lack of access to digital devices and Internet connection, mainly due to factors, such as the socio-educational level of the family and the rural or urban context of the centre.
Sociodemographic Determinants of Nonadherence to Depression and Anxiety Medication among Individuals Experiencing Homelessness
Authors: Eshtehardi Sahar S. , Taylor Ashley A. , Chen Tzuan A. , de Dios Marcel A. , Correa-Fernández Virmarie , Kendzor Darla E. , Businelle Michael S. , Reitzel Lorraine R.
Published: July 2021

Psychiatric medication nonadherence continues to be a leading cause of poor health outcomes for individuals experiencing homelessness. Identifying the sociodemographic factors that contribute to medication nonadherence may help guide strategies to care for and support this group. This study examined 200 adults with depression diagnoses and active anti-depressant prescriptions (Mage = 43.98 ± 12.08, 59.4% Caucasian, 58.5% male, 70% uninsured, 89.5% unemployed) and 181 adults with anxiety diagnoses and active anti-anxiety prescriptions (Mage = 43.45 ± 11.02, 54.4% Caucasian, 57.5% male, 66.3% uninsured, 88.9% unemployed) recruited from six homeless-serving agencies in Oklahoma City. Self-reported sociodemographic variables included: age, sex, race/ethnicity, education, monthly income, employment status, and health insurance status. Adjusted logistic regression analyses revealed that employed (OR = 4.022, CI0.95: 1.244–13.004) and insured (OR = 2.923, CI0.95: 1.225–6.973) participants had greater odds of depression medication nonadherence. For anxiety, being employed (OR = 3.573, CI0.95: 1.160–11.010) was associated with greater odds of anxiety medication nonadherence, whereas having depression and anxiety diagnostic comorbidity (OR = 0.333, CI0.95: 0.137–0.810) was associated with lower odds of anxiety medication nonadherence. Interventions aimed at facilitating accessible prescription acquisition or otherwise reducing barriers to prescription medications for employed adults, including those with health insurance, may benefit adherence, but more research is needed. Future studies would benefit from using a qualitative approach to better delineate nuanced barriers to psychiatric medication adherence.
Evaluating the Implementation of a Multicomponent Intervention Consisting of Education and Feedback on Reducing Benzodiazepine Prescriptions by General Practitioners: BENZORED Hybrid Type I Cluster Randomized Controlled Trial
Authors: Socias Isabel , Leiva Alfonso , Pombo-Ramos Haizea , Bejarano Ferran , Sempere-Verdú Ermengol , Rodríguez-Rincón Raquel María , Fiol Francisca , Mengual Marta , Ajenjo-Navarro Asunción , Do Pazo Fernando , Mateu Catalina , Folch Silvia , Alegret Santiago , Coll Jose Maria , Martín-Rabadán María , Vicens Caterina
Published: July 2021

Background: General practitioners (GPs) in developed countries widely prescribe benzodiazepines (BZDs) for their anxiolytic, hypnotic, and muscle-relaxant effects. Treatment duration, however, is rarely limited, and this results in a significant number of chronic users. Long-term BZD use is associated with cognitive impairment, falls with hip fractures, traffic accidents, and increased mortality. The BENZORED IV trial was a hybrid type-1 trial conducted to evaluate the effectiveness and implementation of an intervention to reduce BZD prescription in primary care. The purpose of this qualitative study was to analyze the facilitators and barriers regarding the implementation of the intervention in primary care settings. Methods: A qualitative interview study with 40 GPs from three Spanish health districts. Focus group meetings with GPs from the intervention arm of the BENZORED IV trial were held at primary healthcare centers in the three districts. For sampling purposes, the GPs were classified as high or low implementers according to the success of the intervention measured at 12 months. The Consolidated Framework for Implementation Research (CFIR) was used to conduct the meetings and to code, rate, and analyze the data. Results: Three of the 41 CFIR constructs strongly distinguished between high and low implementers: the complexity of the intervention, the individual Stage of Change, and the key stakeholder’s engagement. Seven constructs weakly discriminated between the two groups: adaptability in the intervention, external policy and incentives, implementation climate, relative priority, self-efficacy, compatibility, and engaging a formally appointed implementation leader. Fourteen constructs did not discriminate between the two groups, six had insufficient data for evaluation, and eleven had no data for evaluation. Conclusions: We identified constructs that could explain differences in the efficacy in implementation of the intervention. This information is relevant for the design of successful strategies for implementation of the intervention.