bluuebunny/crossref_metadata_2025 huggingface dataset:
Effect of Modification on Microstructure and Properties of AZ91 Magnesium Alloy
Authors: Kiełbus Andrzej , Jarosz Robert , Gryc Adam
Published: June 2020

Refinement of α-Mg solid solution grains has a significant influence on the improvement of mechanical properties of cast magnesium alloys. In the article, the effects of three modifiers on microstructure and properties of AZ91 magnesium alloy casted to a sand mould were described. Overheating, hexachloroethane and wax-CaF2-carbon powder were applied. The research procedure comprised microstructure analysis by means of light microscopy, scanning electron microscopy and quantitative analysis with AnalySIS Pro® software and mechanical properties’ investigation. The microstructure of AZ91 alloy in the as-cast condition consists of α-Mg solid solution with precipitates of Mg17Al12, Mg2Si and Al8Mn5 phases. It was reported that all applied modifiers cause refinement of α-Mg solid solution grains and a decrease of the volume fraction of α-Mg+Mg17Al12 compound discontinuous precipitates. The best results were obtained in the case of wax-CaF2-carbon powder.
Non-Covalent Interactions in Coordination and Organometallic Chemistry
Authors: Novikov Alexander S.
Published: June 2020

The problem of non-covalent interactions in coordination and organometallic compounds is a hot topic in modern chemistry, material science, crystal engineering and related fields of knowledge. Researchers in various fields of chemistry and other disciplines (physics, crystallography, computer science, etc.) are welcome to submit their works on this topic for our Special Issue “Non-Covalent Interactions in Coordination and Organometallic Chemistry”. The aim of this Special Issue is to highlight and overview modern trends and draw the attention of the scientific community to various types of non-covalent interactions in coordination and organometallic compounds. In this editorial, I would like to briefly highlight the main successes of our research group in the field of the fundamental study of non-covalent interactions in coordination and organometallic compounds over the past 5 years.
Thick β-SiC CVD-Coated SiC Die System for Dry Cold Forging of Metals
Authors: Aizawa Tatsuhiko , Yoshino Tomoaki , Ito Ko-Ichi , Fukuda Tatsuya
Published: June 2020

A thick β-SiC CVD (chemical vapor deposition)-coated SiC device was developed as a new punch and die system for dry, cold forging of pure titanium and austenitic stainless-steel works. This β-SiC coating thickness was 4 mm, enough to make mechanical machining of a cavity into β-SiC coating core die. These β-SiC-coated punch and core dies were fixed into the cassette die for dry, cold forging experiments. The stainless steel and titanium wires with diameters of 1.0 mm were employed as the work material. Different from the conventional metallic and ceramic die systems suffering from work material transfer, this system sustained the galling-free cold, dry forging behavior up to a higher reduction of thickness than 30%. The power to stroke the relationship was in situ monitored to describe this forging behavior up to the specified reduction of the wires together with observations on the geometric change from a circular wire to a pentagonal prism bar. Precise scanning electron microscopy-electron-dispersive X-ray spectroscopy (SEM-EDX) analyses were performed to describe the material compatibility on the contact interface between β-SiC coating and elastoplastically deforming works.
Metabolic Endotoxemia, Feeding Studies and the Use of the Limulus Amebocyte (LAL) Assay; Is It Fit for Purpose?
Authors: Pearce Karma , Estanislao Dianne , Fareed Sinan , Tremellen Kelton
Published: June 2020

The Limulus amebocyte assay (LAL) is increasingly used to quantify metabolic endotoxemia (ME), particularly in feeding studies. However, the assay was not intended to assess plasma at levels typically seen in ME. We aimed to optimize and validate the LAL assay under a range of pre-treatment conditions against the well-established lipopolysaccharide binding protein assay (LBP). Fifteen healthy overweight and obese males aged 28.8 ± 9.1years provided plasma. The LAL assay employed a range of pre-treatments; 70 °C for 15 and 30 min and 80 °C for 15 and 30 min, ultrasonication (70 °C for 10 min and then 40 °C for 10 min), and dilution (1:50, 1:75, 1:100, and 1:200 parts) or diluted using 0.5% pyrosperse. Seventeen different plasma pre-treatment methods employed prior to the use of the LAL analytical technique failed to show any relationships with either LBP, or body mass index (BMI; obesity), the biological trigger for ME (p > 0.05 for all). As expected, BMI positively correlated with LBP (r = 0.523, p = 0.052. No relationships were observed between LAL with any of the sample pre-treatments and LBP or BMI. In its current form, the LAL assay is unsuitable for detecting levels of endotoxin typically seen in ME.
A Context-Aware IoT and Deep-Learning-Based Smart Classroom for Controlling Demand and Supply of Power Load
Authors: Paudel Prabesh , Kim Sangkyoon , Park Soonyoung , Choi Kyoung-Ho
Published: June 2020

With the demand for clean energy increasing, novel research is presented in this paper on providing sustainable, clean energy for a university campus. The Internet of Things (IoT) is now a leading factor in saving energy. With added deep learning for action recognition, IoT sensors implemented in real-time appliances monitor and control the extra usage of energy in buildings. This gives an extra edge on digitizing energy usage and, ultimately, reducing the power load in the electric grid. Here, we present a novel proposal through context-aware architecture for energy saving in classrooms, combining Internet of Things (IoT) sensors and video action recognition. Using this method, we can save a significant amount of energy usage in buildings.
Woven Fabric Pattern Recognition and Classification Based on Deep Convolutional Neural Networks
Authors: Iqbal Hussain Muhammad Ather , Khan Babar , Wang Zhijie , Ding Shenyi
Published: June 2020

The weave pattern (texture) of woven fabric is considered to be an important factor of the design and production of high-quality fabric. Traditionally, the recognition of woven fabric has a lot of challenges due to its manual visual inspection. Moreover, the approaches based on early machine learning algorithms directly depend on handcrafted features, which are time-consuming and error-prone processes. Hence, an automated system is needed for classification of woven fabric to improve productivity. In this paper, we propose a deep learning model based on data augmentation and transfer learning approach for the classification and recognition of woven fabrics. The model uses the residual network (ResNet), where the fabric texture features are extracted and classified automatically in an end-to-end fashion. We evaluated the results of our model using evaluation metrics such as accuracy, balanced accuracy, and F1-score. The experimental results show that the proposed model is robust and achieves state-of-the-art accuracy even when the physical properties of the fabric are changed. We compared our results with other baseline approaches and a pretrained VGGNet deep learning model which showed that the proposed method achieved higher accuracy when rotational orientations in fabric and proper lighting effects were considered.
On-Chip Terahertz Detector Designed with Inset-Feed Rectangular Patch Antenna and Catadioptric Lens
Authors: Zhao Fan , Mao Luhong , Guo Weilian , Xie Sheng , T. H. Tee Clarence Augustine
Published: June 2020

This study proposes an on-chip terahertz (THz) detector designed with on-chip inset-feed rectangular patch antenna and catadioptric lens. The detector incorporates a dual antenna and dual NMOSFET structure. Radiation efficiency of the antenna reached 89.4% with 6.89 dB gain by optimizing the antenna inset-feed and micro-strip line sizes. Simulated impedance was 85.55 − j19.81 Ω, and the impedance of the antenna with the ZEONEX horn-like catadioptric lens was 117.03 − j20.28 Ω. Maximum analyzed gain of two on-chip antennas with catadioptric lens was 17.14 dB resonating at 267 GHz. Maximum experimental gain of two on-chip patch antennas was 4.5 dB at 260 GHz, increasing to 10.67 dB at 250 GHz with the catadioptric lens. The proposed on-chip rectangular inset-feed patch antenna has a simple structure, compatible with CMOS processing and easily implemented. The horn-like catadioptric lens was integrated into the front end of the detector chip and hence is easily molded and manufactured, and it effectively reduced terahertz power absorption by the chip substrate. This greatly improved the detector responsivity and provided very high gain. Corresponding detector voltage responsivity with and without the lens was 95.67 kV/W with NEP = 12.8 pW/Hz0.5 at 250 GHz, and 19.2 kV/W with NEP = 67.2 pW/Hz0.5 at 260 GHz, respectively.
Landscape Patterns of Rare Vascular Plants in the Lower Athabasca Region of Alberta, Canada
Authors: Nielsen Scott E. , Dennett Jacqueline M. , Bater Christopher W.
Published: June 2020

Predicting habitat for rare species at landscape scales is a common goal of environmental monitoring, management, and conservation; however, the ability to meet that objective is often limited by the paucity of location records and availability of spatial predictors that effectively describe their habitat. To address this challenge, we used an adaptive, model-based iterative sampling design to direct four years of rare plant surveys within 0.25 ha plots across 602 sites in northeast Alberta, Canada. We used these location records to model and map rare plant habitats for the region using a suite of geospatial predictors including airborne light detection and ranging (LiDAR) vegetation structure metrics, land cover types, soil pH, and a terrain wetness model. Our results indicated that LiDAR-derived vegetation structural metrics and land cover were the most important individual factors, but all variables contributed to predicting the occurrence of rare plants. For LiDAR variables, rarity was negatively related to maximum canopy height, but positively related to canopy relief ratio. Rarity was therefore more likely in places with shorter canopy heights and greater structural complexity. This included fens, which overall had the highest rates of rare plant occurrence. Model-based allocation of sampling led to detections of uncommon species at nearly all sites, while the rarest species in the region were detected at an average encounter rate of 8%. Landscape predictions of rare plant habitat can improve our understanding of environmental limits in rarity, guide local management decisions and monitoring plans, and provide regional tools for assessing impacts from resource development.
A Methodology to Evaluate Standards and Platforms within Cyber Threat Intelligence
Authors: de Melo e Silva Alessandra , Costa Gondim João José , de Oliveira Albuquerque Robson , García Villalba Luis Javier
Published: June 2020

The cyber security landscape is fundamentally changing over the past years. While technology is evolving and new sophisticated applications are being developed, a new threat scenario is emerging in alarming proportions. Sophisticated threats with multi-vectored, multi-staged and polymorphic characteristics are performing complex attacks, making the processes of detection and mitigation far more complicated. Thus, organizations were encouraged to change their traditional defense models and to use and to develop new systems with a proactive approach. Such changes are necessary because the old approaches are not effective anymore to detect advanced attacks. Also, the organizations are encouraged to develop the ability to respond to incidents in real-time using complex threat intelligence platforms. However, since the field is growing rapidly, today Cyber Threat Intelligence concept lacks a consistent definition and a heterogeneous market has emerged, including diverse systems and tools, with different capabilities and goals. This work aims to provide a comprehensive evaluation methodology of threat intelligence standards and cyber threat intelligence platforms. The proposed methodology is based on the selection of the most relevant candidates to establish the evaluation criteria. In addition, this work studies the Cyber Threat Intelligence ecosystem and Threat Intelligence standards and platforms existing in state-of-the-art.
Preceding Fall Drought Conditions and Overwinter Precipitation Effects on Spring Wildland Fire Activity in Canada
Authors: Hanes Chelene , Wotton Mike , Woolford Douglas G. , Martell David L. , Flannigan Mike
Published: June 2020

Spring fire activity has increased in parts of Canada, particularly in the west, prompting fire managers to seek indicators of potential activity before the fire season starts. The overwintering adjustment of the Canadian Fire Weather Index System’s Drought Code (DC) is a method to adjust and carry-over the previous season’s drought conditions into the spring and potentially point to what lies ahead. The occurrence of spring fires is most strongly influenced by moisture in fine fuels. We used a zero-inflated Poisson regression model to examine the impact of the previous end of season Drought Code (DCf) and overwinter precipitation (Pow) while accounting for the day-to-day variation in fine fuel moisture that drives ignition potential. Impacts of DCf and Pow on area burned and fire suppression effectiveness were also explored using linear and logistic regression frameworks. Eight fire management regions across the boreal forests were analyzed using data from 1979 to 2018. For the majority of regions, drier fall conditions resulted in more human-caused spring fires, but not in greater area burned or reduced suppression effectiveness. The influence of Pow was much more variable pointing to the conclusion that Pow alone is not a good indicator of spring drought conditions.
High Biological Value Compounds Extraction from Citrus Waste with Non-Conventional Methods
Authors: Anticona Mayra , Blesa Jesus , Frigola Ana , Esteve Maria Jose
Published: June 2020

Citrus fruits are extensively grown and much consumed around the world. Eighteen percent of total citrus cultivars are destined for industrial processes, and as a consequence, large amounts of waste are generated. Citrus waste is a potential source of high biological value compounds, which can be used in the food, pharmaceutical, and cosmetic industries but whose final disposal may pose a problem due to economic and environmental factors. At the same time, the emerging need to reduce the environmental impact of citrus waste and its responsible management has increased. For these reasons, the study of the use of non-conventional methods to extract high biological value compounds such as carotenoids, polyphenols, essential oils, and pectins from this type of waste has become more urgent in recent years. In this review, the effectiveness of technologies such as ultrasound assisted extraction, microwave assisted extraction, supercritical fluid extraction, pressurized water extraction, pulsed electric field, high-voltage electric discharges, and high hydrostatic pressures is described and assessed. A wide range of information concerning the principal non-conventional methods employed to obtain high-biological-value compounds from citrus waste as well as the most influencing factors about each technology are considered.
Differentiating Breast Myopathies through Color and Texture Analyses in Broiler
Authors: Campo María del Mar , Mur Leticia , Guerrero Ana , Barahona Marta , Resconi Virginia Celia , Magalhaes Danielle Rodrigues , Lisbinski Eduardo , Boito Bruna , Oliveira Ivanna Moraes de , Olleta José Luis
Published: June 2020

Wooden breast (WB), white striping (WS) and spaghetti meat (SM) are breast myopathies of the Pectoralis major that greatly affect meat quality in broilers. To differentiate color and texture characteristics with instrumental methods, some of them applied for the first time in this species, 300 carcasses were randomly chosen from an abattoir from five different flocks from the same farm, at a rate of 60 carcasses from each flock. Twenty-four hours after slaughter, both side breasts were dissected, and yields calculated. Color was measured on the surface of the breast with a spectrocolorimeter and reflectance values obtained. Texture was measured on raw meat with a modified compression test that hinders the fiber from expanding transversally and a texture profile analysis (TPA) and also on cooked meat with a Warner–Bratzler shear and a TPA. Color differs between severity degrees, increasing redness (from −1.77 to −1.32 in WB) and, especially, yellowness (from 5.00 to 6.73 in WS) and chroma (from 5.75 to 7.22 in SM) with the severity of the myopathy. The subtraction R630 minus R580 was found to be a useful index to differentiate breast myopathies degrees. The modified compression test can be considered an effective tool to assess the hardness of different structures in each myopathy. Texture differences in the myopathies are better assessed in raw than in cooked meat.
Evaluation of Amyloid β42 Aggregation Inhibitory Activity of Commercial Dressings by A Microliter-Scale High-Throughput Screening System Using Quantum-Dot Nanoprobes
Authors: Kuragano Masahiro , Yoshinari Wataru , Lin Xuguang , Shimamori Keiya , Uwai Koji , Tokuraku Kiyotaka
Published: June 2020

The aggregation and accumulation of amyloid β (Aβ) in the brain is a trigger of pathogenesis for Alzheimer’s disease. Previously, we developed a microliter-scale high-throughput screening (MSHTS) system for Aβ42 aggregation inhibitors using quantum-dot nanoprobes. The MSHTS system is seldom influenced by contaminants in samples and is able to directly evaluate Aβ42 aggregation inhibitory activity of samples containing various compounds. In this study, to elucidate whether the MSHTS system could be applied to the evaluation of processed foods, we examined Aβ42 aggregation inhibitory activity of salad dressings, including soy sauces. We estimated the 50% effective concentration (EC50) from serial diluted dressings. Interestingly, all 19 commercial dressings tested showed Aβ42 aggregation inhibitory activity. It was suggested that EC50 differed by as much as 100 times between the dressings with the most (0.065 ± 0.020 v/v%) and least (6.737 ± 5.054 v/v%) inhibitory activity. The highest activity sample is traditional Japanese dressing, soy sauce. It is known that soy sauce is roughly classified into a heat-treated variety and a non-heat-treated variety. We demonstrated that non-heat-treated raw soy sauce exhibited higher Aβ42 aggregation inhibitory activity than heat-treated soy sauce. Herein, we propose that MSHTS system can be applied to processed foods.
The Antioxidant and Anti-Inflammatory Properties of Rice Bran Phenolic Extracts
Authors: Saji Nancy , Francis Nidhish , Schwarz Lachlan J. , Blanchard Christopher L. , Santhakumar Abishek B.
Published: June 2020

Oxidative stress and inflammation are known to be linked to the development of chronic inflammatory conditions, such as type 2 diabetes and cardiovascular disease. Dietary polyphenols have been demonstrated to contain potent bioactivity against specific inflammatory pathways. Rice bran (RB), a by-product generated during the rice milling process, is normally used in animal feed or discarded due to its rancidity. However, RB is known to be abundant in bioactive polyphenols including phenolic acids. This study investigates the antioxidant and anti-inflammatory effects of RB phenolic extracts (25, 50, 100, and 250 µg/mL) on RAW264.7 mouse macrophage cells stimulated with hydrogen peroxide and lipopolysaccharide. Biomarkers of oxidative stress and inflammation such as malondialdehyde (MDA), intracellular reactive oxygen species, nitric oxide and pro-inflammatory cytokines such as interleukin-6 (IL-6), monocyte chemoattractant protein 1 (MCP-1), interleukin-10 (IL-10), tumor necrosis factor-α (TNF-α), interleukin-12, p70 (IL-12p70), and interferon-γ (IFN-γ) were measured in vitro. Treatment with RB extracts significantly decreased the production of MDA, intracellular reactive oxygen species, nitric oxide and pro-inflammatory cytokines (IL-6, IL-12p70, and IFN-γ) when compared to the control. It is proposed that RB phenolic extracts, via their metal chelating properties and free radical scavenging activity, target pathways of oxidative stress and inflammation resulting in the alleviation of vascular inflammatory mediators.
Quality Characteristics of Healthy Dry Fermented Sausages Formulated with a Mixture of Olive and Chia Oil Structured in Oleogel or Emulsion Gel as Animal Fat Replacer
Authors: Pintado Tatiana , Cofrades Susana
Published: June 2020

The present work evaluates the suitability of beeswax oleogels and emulsion gel prepared with a healthy lipid mixture (olive and chia oils) as pork fat replacers for the development of a dry fermented meat product (fuet). Because these systems offer various possibilities, this study has compared their effect on the nutritional quality and sensory acceptability of fuets and their behaviour with regard to technological properties and microbiological and oxidative stability during 30 days of chilled storage. This strategy allowed products with an improved fatty acid profile and a 12-fold decrease of the polyunsaturated fatty acids (PUFA) n-6/n-3 ratio, as compared to the control samples. Irrespective of the structuring method used as animal fat replacer, reformulated samples showed a good oxidative status during chilled storage. In general, no differences that depended on the use of oleogel or emulsion gel were observed in the technological properties and microbiological status, so the choice of one or the other would be conditioned by other factors than the characteristics that the product develops. However, further studies are needed to improve the sensory attributes of the reformulated samples.
Functional Differential Equations Involving the ψ-Caputo Fractional Derivative
Authors: Almeida Ricardo
Published: June 2020

This paper is devoted to the study of existence and uniqueness of solutions for fractional functional differential equations, whose derivative operator depends on an arbitrary function. The introduction of such function allows generalization of some known results, and others can be also obtained.
Direct Visualization of Horizontal Gene Transfer by Transformation in Live Pneumococcal Cells Using Microfluidics
Authors: Mortier-Barrière Isabelle , Polard Patrice , Campo Nathalie
Published: June 2020

Natural genetic transformation is a programmed mechanism of horizontal gene transfer in bacteria. It requires the development of competence, a specialized physiological state during which proteins involved in DNA uptake and chromosomal integration are produced. In Streptococcus pneumoniae, competence is transient. It is controlled by a secreted peptide pheromone, the competence-stimulating peptide (CSP) that triggers the sequential transcription of two sets of genes termed early and late competence genes, respectively. Here, we used a microfluidic system with fluorescence microscopy to monitor pneumococcal competence development and transformation, in live cells at the single cell level. We present the conditions to grow this microaerophilic bacterium under continuous flow, with a similar doubling time as in batch liquid culture. We show that perfusion of CSP in the microfluidic chamber results in the same reduction of the growth rate of individual cells as observed in competent pneumococcal cultures. We also describe newly designed fluorescent reporters to distinguish the expression of competence genes with temporally distinct expression profiles. Finally, we exploit the microfluidic technology to inject both CSP and transforming DNA in the microfluidic channels and perform near real time-tracking of transformation in live cells. We show that this approach is well suited to investigating the onset of pneumococcal competence together with the appearance and the fate of transformants in individual cells.
Pharmacogenomics and Personalized Medicine
Authors: Cecchin Erika , Stocco Gabriele
Published: June 2020

Pharmacogenomics is one of the emerging approaches to precision medicine, tailoring drug selection and dosing to the patient’s genetic features. In recent years, several pharmacogenetic guidelines have been published by international scientific consortia, but the uptake in clinical practice is still poor. Many coordinated international efforts are ongoing in order to overcome the existing barriers to pharmacogenomic implementation. On the other hand, existing validated pharmacogenomic markers can explain only a minor part of the observed clinical variability in the therapeutic outcome. New investigational approaches are warranted, including the study of the pharmacogenomic role of the immune system genetics and of previously neglected rare genetic variants, reported to account for a large part of the inter-individual variability in drug metabolism. In this Special Issue, we collected a series of articles covering many aspects of pharmacogenomics. These include clinical implementation of pharmacogenomics in clinical practice, development of tools or infrastractures to support this process, research of new pharmacogenomics markers to increase drug efficacy and safety, and the impact of rare genetic variants in pharmacogenomics.
Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Authors: Buckley Reuben M. , Gandolfi Barbara , Creighton Erica K. , Pyne Connor A. , Bouhan Delia M. , LeRoy Michelle L. , Senter David A. , Gobble Johnny R. , Abitbol Marie , Lyons Leslie A. ,   99 Lives Consortium
Published: June 2020

A variety of cat breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed breed, the lykoi (a.k.a. werewolf cat), was bred from cats with a sparse hair coat with roaning, implying full color and all white hairs. The lykoi phenotype is a form of hypotrichia, presenting as a significant reduction in the average numbers of follicles per hair follicle group as compared to domestic shorthair cats, a mild to severe perifollicular to mural lymphocytic infiltration in 77% of observed hair follicle groups, and the follicles are often miniaturized, dilated, and dysplastic. Whole genome sequencing was conducted on a single lykoi cat that was a cross between two independently ascertained lineages. Comparison to the 99 Lives dataset of 194 non-lykoi cats suggested two variants in the cat homolog for Hairless (HR) (HR lysine demethylase and nuclear receptor corepressor) as candidate causal gene variants. The lykoi cat was a compound heterozygote for two loss of function variants in HR, an exon 3 c.1255_1256dupGT (chrB1:36040783), which should produce a stop codon at amino acid 420 (p.Gln420Serfs*100) and, an exon 18 c.3389insGACA (chrB1:36051555), which should produce a stop codon at amino acid position 1130 (p.Ser1130Argfs*29). Ascertainment of 14 additional cats from founder lineages from Canada, France and different areas of the USA identified four additional loss of function HR variants likely causing the highly similar phenotypic hair coat across the diverse cats. The novel variants in HR for cat hypotrichia can now be established between minor differences in the phenotypic presentations.
Clinical Relevance of +936 C>T VEGFA and c.233C>T bFGF Polymorphisms in Chronic Lymphocytic Leukemia
Authors: Ballester Sandra , Pineda Begoña , Rodrigues Patricia , Tormo Eduardo , Terol María José , Eroles Pilar
Published: June 2020

Angiogenesis process contributes to the pathogenesis of B-cell chronic lymphocytic leukemia (B-CLL) being the levels of VEGFA and bFGF higher in patients than in healthy controls. Our aim was to evaluate the implication of angiogenesis factors genetic variants in the predisposition to B-CLL and their association with clinical factors and survival. We performed a population-based case-control study in 224 Spanish B-CLL patients and 476 healthy randomly selected controls to evaluate susceptibility to developing B-CLL. Six polymorphisms were evaluated: rs1109324, rs1547651, rs3025039 (+936 C>T), rs833052 of the VEGFA gene, rs1449683 (c.233C>T) of the bFGF gene and (−710 C>T) of the VEGFR1 gene. The association between clinical parameters and patient outcome was analyzed. Carriers of the CT/TT variants of rs3025039 showed a significant protective effect against developing B-CLL. The CT/TT variants of rs1449683 show a tendency towards the development of the disease and the same variants associated significantly with higher genetic risk and with reduced disease free survival. Moreover, the association persisted in the early-stage disease subgroup. Our study provides evidence of the protective effect of the T/- rs3025039 VEGFA variant against B-CLL development and the association of CT/TT variants of the rs1449683 bFGF gene with genetic risk and an adverse survival.
Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment
Authors: Schrauwen Isabelle , Liaqat Khurram , Schatteman Isabelle , Bharadwaj Thashi , Nasir Abdul , Acharya Anushree , Ahmad Wasim , Van Camp Guy , Leal Suzanne M.
Published: June 2020

Congenital hearing impairment is a sensory disorder that is genetically highly heterogeneous. By performing exome sequencing in two families with congenital nonsyndromic profound sensorineural hearing loss (SNHL), we identified autosomal dominantly inherited missense variants [p.(Asn283Ser); p.(Thr116Ile)] in GREB1L, a neural crest regulatory molecule. The p.(Thr116Ile) variant was also associated with bilateral cochlear aplasia and cochlear nerve aplasia upon temporal bone imaging, an ultra-rare phenotype previously seen in patients with de novo GREB1L variants. An important role of GREB1L in normal ear development has also been demonstrated by greb1l−/− zebrafish, which show an abnormal sensory epithelia innervation. Last, we performed a review of all disease-associated variation described in GREB1L, as it has also been implicated in renal, bladder and genital malformations. We show that the spectrum of features associated with GREB1L is broad, variable and with a high level of reduced penetrance, which is typically characteristic of neurocristopathies. So far, seven GREB1L variants (14%) have been associated with ear-related abnormalities. In conclusion, these results show that autosomal dominantly inherited variants in GREB1L cause profound SNHL. Furthermore, we provide an overview of the phenotypic spectrum associated with GREB1L variants and strengthen the evidence of the involvement of GREB1L in human hearing.
Leukocyte Nucleolus and Anisakis pegreffii—When Falling Apart Means Falling in Place
Authors: Mladineo Ivona , Hrabar Jerko
Published: June 2020

The view of the nucleolus as a mere ribosomal factory has been recently expanded, highlighting its essential role in immune and stress-related signalling and orchestrating. It has been shown that the nucleolus structure, formed around nucleolus organiser regions (NORs) and attributed Cajal bodies, is prone to disassembly and reassembly correlated to various physiological and pathological stimuli. To evaluate the effect of parasite stimulus on the structure of the leukocyte nucleolus, we exposed rat peripheral blood mononuclear cells (PBMC) to the crude extract of the nematode A. pegreffii (Anisakidae), and compared the observed changes to the effect of control (RPMI-1640 media), immunosuppressive (MPA) and immunostimulant treatment (bacterial lipopolysaccharide (LPS) and viral analogue polyinosinic:polycytidylic acid (poly I:C)) by confocal microscopy. Poly I:C triggered the most accentuated changes such as nucleolar fragmentation and structural unravelling, LPS induced nucleolus thickening reminiscent of cell activation, while MPA induced disassembly of dense fibrillar and granular components. A. pegreffii crude extract triggered nucleolar segregation, expectedly more enhanced in treatment with a higher dose. This is the first evidence that leukocyte nucleoli already undergo structural changes 12 h post-parasitic stimuli, although these are likely to subside after successful cell activation.
Genetic Basis of Maize Resistance to Multiple Insect Pests: Integrated Genome-Wide Comparative Mapping and Candidate Gene Prioritization
Authors: Badji A. , Kwemoi D. B. , Machida L. , Okii D. , Mwila N. , Agbahoungba S. , Kumi F. , Ibanda A. , Bararyenya A. , Solemanegy M. , Odong T. , Wasswa P. , Otim M. , Asea G. , Ochwo-Ssemakula M. , Talwana H. , Kyamanywa S. , Rubaihayo P.
Published: June 2020

Several species of herbivores feed on maize in field and storage setups, making the development of multiple insect resistance a critical breeding target. In this study, an association mapping panel of 341 tropical maize lines was evaluated in three field environments for resistance to fall armyworm (FAW), whilst bulked grains were subjected to a maize weevil (MW) bioassay and genotyped with Diversity Array Technology’s single nucleotide polymorphisms (SNPs) markers. A multi-locus genome-wide association study (GWAS) revealed 62 quantitative trait nucleotides (QTNs) associated with FAW and MW resistance traits on all 10 maize chromosomes, of which, 47 and 31 were discovered at stringent Bonferroni genome-wide significance levels of 0.05 and 0.01, respectively, and located within or close to multiple insect resistance genomic regions (MIRGRs) concerning FAW, SB, and MW. Sixteen QTNs influenced multiple traits, of which, six were associated with resistance to both FAW and MW, suggesting a pleiotropic genetic control. Functional prioritization of candidate genes (CGs) located within 10–30 kb of the QTNs revealed 64 putative GWAS-based CGs (GbCGs) showing evidence of involvement in plant defense mechanisms. Only one GbCG was associated with each of the five of the six combined resistance QTNs, thus reinforcing the pleiotropy hypothesis. In addition, through in silico co-functional network inferences, an additional 107 network-based CGs (NbCGs), biologically connected to the 64 GbCGs, and differentially expressed under biotic or abiotic stress, were revealed within MIRGRs. The provided multiple insect resistance physical map should contribute to the development of combined insect resistance in maize.
Combined Preimplantation Genetic Testing for Autosomal Dominant Polycystic Kidney Disease: Consequences for Embryos Available for Transfer
Authors: Mir Pardo Pere , Martínez-Conejero José Antonio , Martín Julio , Simón Carlos , Cervero Ana
Published: June 2020

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and presents with genetic and clinical heterogeneity. ADPKD can also manifest extra-renally, and seminal cysts have been associated with male infertility in some cases. ADPKD-linked male infertility, along with female age, have been proposed as factors that may influence the clinical outcomes of preimplantation genetic testing (PGT) for monogenic disorders (PGT-M). Large PGT for aneuploidy assessment (PGT-A) studies link embryo aneuploidy to increasing female age; other studies suggest that embryo aneuploidy is also linked to severe male-factor infertility. We aimed to assess the number of aneuploid embryos and the number of cycles with transferable embryos in ADPKD patients after combined-PGT. The combined-PGT protocol, involving PGT-M by PCR and PGT-A by next-generation sequencing, was performed in single trophectoderm biopsies from 289 embryos in 83 PGT cycles. Transferable embryos were obtained in 69.9% of cycles. The number of aneuploid embryos and cycles with transferable embryos did not differ when the male or female had the ADPKD mutation. However, a significantly higher proportion of aneuploid embryos was found in the advanced maternal age (AMA) group, but not in the male factor (MF) group, when compared to non-AMA and non-MF groups, respectively. Additionally, no significant differences in the percentage of cycles with transferable embryos were found in any of the groups. Our results indicate that AMA couples among ADPKD patients have an increased risk of aneuploid embryos, but ADPKD-linked male infertility does not promote an increased aneuploidy rate.
Orphan G Protein Coupled Receptors in Affective Disorders
Authors: Watkins Lyndsay R. , Orlandi Cesare
Published: June 2020

G protein coupled receptors (GPCRs) are the main mediators of signal transduction in the central nervous system. Therefore, it is not surprising that many GPCRs have long been investigated for their role in the development of anxiety and mood disorders, as well as in the mechanism of action of antidepressant therapies. Importantly, the endogenous ligands for a large group of GPCRs have not yet been identified and are therefore known as orphan GPCRs (oGPCRs). Nonetheless, growing evidence from animal studies, together with genome wide association studies (GWAS) and post-mortem transcriptomic analysis in patients, pointed at many oGPCRs as potential pharmacological targets. Among these discoveries, we summarize in this review how emotional behaviors are modulated by the following oGPCRs: ADGRB2 (BAI2), ADGRG1 (GPR56), GPR3, GPR26, GPR37, GPR50, GPR52, GPR61, GPR62, GPR88, GPR135, GPR158, and GPRC5B.
Comparative Pathway Integrator: A Framework of Meta-Analytic Integration of Multiple Transcriptomic Studies for Consensual and Differential Pathway Analysis
Authors: Zeng Xiangrui , Zong Wei , Lin Chien-Wei , Fang Zhou , Ma Tianzhou , Lewis David A. , Enwright John F. , Tseng George C.
Published: June 2020

Pathway enrichment analysis provides a knowledge-driven approach to interpret differentially expressed genes associated with disease status. Many tools have been developed to analyze a single study. However, when multiple studies of different conditions are jointly analyzed, novel integrative tools are needed. In addition, pathway redundancy introduced by combining multiple public pathway databases hinders interpretation and knowledge discovery. We present a meta-analytic integration tool, Comparative Pathway Integrator (CPI), to address these issues using adaptively weighted Fisher’s method to discover consensual and differential enrichment patterns, a tight clustering algorithm to reduce pathway redundancy, and a text mining algorithm to assist interpretation of the pathway clusters. We applied CPI to jointly analyze six psychiatric disorder transcriptomic studies to demonstrate its effectiveness, and found functions confirmed by previous biological studies as well as novel enrichment patterns. CPI’s R package is accessible online on Github metaOmics/MetaPath.
Ground-Penetrating Radar Survey for the Study of the Church of Saint Cosma in Helerito (Tagliacozzo, L’Aquila, Italy)
Authors: Cozzolino Marilena , Di Giovanni Elisa , Gentile Vincenzo , Mauriello Paolo , Pizzano Natascia
Published: June 2020

This paper deals with the application of geophysical prospections to the study of the Church of Saint Cosma in Helerito inside the Monastery of Saints Cosma and Damiano (Tagliacozzo, L’Aquila, Italy). The research aimed to verify the presence of buried ancient archaeological structures of a construction phase older than the current building. Thus, a grid of ground-penetrating radar (GPR) profiles was carried out inside the building in the available spaces using a radar unit equipped with a multi-frequency antenna of 200–600 MHz. The analysis of 2D radargrams and horizontal slices relative to different temporal ranges led to the identification of significant regular patterns of the amplitude of the electromagnetic signals. The results suggest the presence of a buried structure below the analyzed surface.
Vaccination in Inflammatory Bowel Disease: Utility and Future Perspective
Authors: Casella Giovanni , Ingravalle Fabio , Ingravalle Adriana , Monti Claudio , Bonetti Fulvio , De Salvatore Federica , Villanacci Vincenzo , Limonta Aurelio
Published: June 2020

Inflammatory bowel disease (IBD) is an immune-mediated disease, which often require lifetime treatment with immunomodulators and immunosuppressive drugs. Both IBD and its treatments are associated with an increased risk of infectious disease and mortality. Several of these diseases are vaccine preventable and could be avoided, reducing morbidity and mortality. However, vaccination rates among patients with IBD are lower than in the general population and both patients and doctors are not fully aware of the problem. Education campaigns and well planned vaccination schemes are necessary to improve vaccination coverage in patients with IBD. Immunomodulators and immunosuppressive drugs may reduce the seroprotection levels. For this reason, new vaccination schemes are being studied in patients with IBD. It is therefore important to understand which and when vaccines can be administrated based on immunocompetence or immunosuppression of patients. Usually, live-attenuated vaccines should be avoided in immunosuppressed patients, so assessing vaccination status and planning vaccination before immunosuppressive treatments are pivotal to reduce infection risk. The aim of this review is to increase the awareness of the problem and provide a quick reference for vaccination plan tailoring, especially for gastroenterologists and primary care physicians, who have the skills and knowledge to implement vaccination strategies.
Weight Status Is Related to Health-Related Physical Fitness and Physical Activity but Not to Sedentary Behaviour in Children
Authors: López-Gil José Francisco , Brazo-Sayavera Javier , Yuste Lucas Juan Luis , Renato Cavichiolli Fernando
Published: June 2020

Purpose: The aim of this research was to describe, examine, and compare the level of physical fitness, physical activity, and sedentary behaviour in pupils aged 6–13 in the Region of Murcia, Spain, in accordance with weight status. Methods: A total of 370 children (166 girls and 204 boys) aged 6–13 (M = 8.7; DT = 1.8) from the Region of Murcia participated in this descriptive and cross-sectional study. Some anthropometric parameters such as body mass index, waist circumference, as well as skinfold measurements were determined. ALPHA-FIT Test Battery was used to evaluate physical fitness. Krece Plus Short Test was used to measure physical activity level and sedentary behaviour. Results: 52.4% of the children presented excess weight (according to the World Health Organization growth references). Regarding boys, statistically significant differences were found for cardiorespiratory fitness (p < 0.001), relative handgrip strength (p < 0.001), lower muscular strength (p < 0.001), speed-agility (p < 0.001), as well as sport activities hours (p = 0.001) among the three weight status groups (normal weight, overweight, and obesity). As for girls, statistically significant differences were found for cardiorespiratory fitness (p = 0.004), relative handgrip strength (p < 0.001), lower muscular strength (p < 0.001), sport activities hours (p = 0.005), as well as physical activity level (assessed by Krece Plus Test) (p = 0.017). A negative statistically significant correlation was found between body mass index and cardiorespiratory fitness (rho = −0.389), lower muscular strength, (rho = −0.340), and relative handgrip strength (rho = −0.547). At the same time, a positive statistically significant relationship between body mass index and the time spent in speed-agility (rho = 0.263) was shown. Regarding waist circumference and body fat percentage, similar relationships were identified. Moreover, a greater probability of having higher cardiorespiratory fitness (OR = 1.58; CI95% = 1.38–1.82), relative handgrip strength (OR = 1.25; CI95% = 1.19–1.31), more hours of sport activities (OR = 1.40; CI95% = 1.19–1.66), and physical activity level (assessed by Krece Plus Test) (OR = 1.23; CI95% = 1.07–1.42) was noted in the normal weight group. Conclusions: Children that presented normal weight achieved higher results for health-related physical fitness and physical activity than those with excess weight; this was, however, not found to be the case for sedentary behaviour. The authors emphasise the need for changes in public policies and school-based intervention programmes to develop higher levels of both PF and PA in overweight and obese children.
Age-Friendly Environments in ASEAN Plus Three: Case Studies from Japan, Malaysia, Myanmar, Vietnam, and Thailand
Authors: Tiraphat Sariyamon , Buntup Doungjai , Munisamy Murallitharan , Nguyen Thang Huu , Yuasa Motoyuki , Nyein Aung Myo , Hpone Myint Aung
Published: June 2020

Promoting age-friendly environment is one of the appropriate approaches to support quality of life toward ageing populations. However, the information regarding age-friendly environments in the Association of Southeast Asian Nations (ASEAN) Plus Three countries is still limited. This study aimed to survey the perceived age-friendly environments among ASEAN Plus Three older populations. The study employed cross-sectional quantitative research using multistage cluster sampling to select a sample of older adults in the capital cities of Japan, Malaysia, Myanmar, Vietnam and Thailand. The final sample was composed of 2171 older adults aged 55 years and over, including 140 Japanese, 510 Thai, 537 Malaysian, 487 Myanmarese, and 497 Vietnamese older adults. Data collection was conducted using a quantitative questionnaire with 20 items of perceived age-friendly environments with the rating scale based on the World Health Organization (WHO) standard. The score from the 20 items were analyzed and examined high-risk groups of “bad perception level” age-friendly environments using ordinal logistic regression. The research indicated the five highest inadequacies of age-friendly environments including: (1) participating in an emergency-response training session or drill which addressed the needs of older residents; (2) enrolling in any form of education or training, either formal or non-formal in any subject; (3) having opportunities for paid employment; (4) involvement in decision making about important political, economic and social issues in the community; and (5) having personal care or assistance needs met in the older adult’s home setting by government/private care services. Information regarding the inadequacy of age-friendliness by region was evidenced to guide policy makers in providing the right interventions towards older adults’ needs.
The Differences in the Diagnostic Profile in Children with Vasovagal Syncope between the Result of Head-Up Tilt Table Test
Authors: Kolarczyk Ewelina , Szydłowski Lesław , Skierska Agnieszka , Markiewicz-Łoskot Grażyna
Published: June 2020

(1) Background: The features characterizing vasovagal syncope (VVS) are an important factor in the correct evaluation of diagnostic risk stratification in children and adolescents. The aim of the study was to determine the value of identifying the clinical characteristics in children with VVS. (2) Methods: We made a retrospective analysis of the medical records of 109 children with diagnosed VVS. We investigated the specific characteristics of syncope in children with VVS including the positive VVS (+) and negative VVS (−) result of the Head-Up Tilt Table Test (HUTT). (3) Results: We did not observe significant differences in the prodromal symptoms of VVS with HUTT response. In addition to typical prodromal symptoms, no difference in statistically reported palpitations (35/109 or 32.1%) and chest discomfort (27/109 or 27.7%) were recorded. Fear–pain–stress emotions as circumstances of syncope were more often reported by children with a negative HUTT (p = 0.02). Cramps–contractures (p = 0.016) and speech disorders (p = 0.038) were significantly higher in the group with negative HUTT. (4) Conclusions: There is a close relationship in the diagnostic profile between the negative and positive results of head-up tilt table test in children with vasovagal syncope.