bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic architecture and polygenic risk score prediction of degenerative suspensory ligament desmitis (DSLD) in the Peruvian Horse
Authors: Momen Mehdi , Brauer Kiley , Patterson Margaret M. , Sample Susannah J. , Binversie Emily E. , Davis Brian W. , Cothran E. Gus , Rosa Guilherme J. M. , Brounts Sabrina H. , Muir Peter 
Published: August 2023

Introduction: Spontaneous rupture of tendons and ligaments is common in several species including humans. In horses, degenerative suspensory ligament desmitis (DSLD) is an important acquired idiopathic disease of a major energy-storing tendon-like structure. DSLD risk is increased in several breeds, including the Peruvian Horse. Affected horses have often been used for breeding before the disease is apparent. Breed predisposition suggests a substantial genetic contribution, but heritability and genetic architecture of DSLD have not been determined.Methods: To identify genomic regions associated with DSLD, we recruited a reference population of 183 Peruvian Horses, phenotyped as DSLD cases or controls, and undertook a genome-wide association study (GWAS), a regional window variance analysis using local genomic partitioning, a signatures of selection (SOS) analysis, and polygenic risk score (PRS) prediction of DSLD risk. We also estimated trait heritability from pedigrees.Results: Heritability was estimated in a population of 1,927 Peruvian horses at 0.22 ± 0.08. After establishing a permutation-based threshold for genome-wide significance, 151 DSLD risk single nucleotide polymorphisms (SNPs) were identified by GWAS. Multiple regions of enriched local heritability were identified across the genome, with strong enrichment signals on chromosomes 1, 2, 6, 10, 13, 16, 18, 22, and the X chromosome. With SOS analysis, there were 66 genes with a selection signature in DSLD cases that was not present in the control group that included the TGFB3 gene. Pathways enriched in DSLD cases included proteoglycan metabolism, extracellular matrix homeostasis, and signal transduction pathways that included the hedgehog signaling pathway. The best PRS predictive performance was obtained when we fitted 1% of top SNPs using a Bayesian Ridge Regression model which achieved the highest mean of R2 on both the probit and logit liability scales, indicating a strong predictive performance.Discussion: We conclude that within-breed GWAS of DSLD in the Peruvian Horse has further confirmed that moderate heritability and a polygenic architecture underlies the trait and identified multiple DSLD SNP associations in novel tendinopathy candidate genes influencing disease risk. Pathways enriched with DSLD risk variants include ones that influence glycosaminoglycan metabolism, extracellular matrix homeostasis, signal transduction pathways.
Host immunity and HBV S gene mutation in HBsAg-negative HBV-infected patients
Authors: Liu Xin , Chen Shu-xiang , Liu Hui , Lou Jin-li 
Published: August 2023

BackgroundClinically, some patients whose HBsAg becomes negative owing to antiviral therapy or spontaneously still show a low level of HBV DNA persistence in serum. T-lymphocyte subsets, cytokine levels and HBV S gene sequences were analyzed in this study.MethodsA total of 52 HBsAg-negative and HBV DNA-positive patients(HBsAg-/HBV DNA+ patients), 52 persistently HBsAg-positive patients(HBsAg+/HBV DNA+ patients) and 16 healthy people were evaluated. T-lymphocyte subsets of these patients were detected by flow cytometry, serum cytokines and chemokines were detected by the Luminex technique, and the HBV S region was evaluated by Sanger sequencing. T%, T-lymphocyte, CD8+ and CD4+T lymphocyte were lower in the HBsAg-negative group than in the HC group. Compared with the HBsAg-positive group, the HBsAg-negative group had lower levels in T lymphocyte %, CD8+T lymphocyte %, CD8+T lymphocyte and CD4/CD8. These difference were statistically significant (P&lt;0.05). Serum IFN-γ, IFN-α and FLT-3L levels were significantly higher in the HBsAg-negative group than in the HBsAg-positive group (P&lt;0.05). However, levels of many cytokines related to inflammation (i.e., IL-6, IL-8, IL10, IL-12, IL-17A) were lower in the HBsAg-negative group. Fifty-two HBsAg-negative samples were sequenced, revealing high-frequency amino acid substitution sites in the HBV S protein, including immune escape mutations (i.e., Y100C, S114T, C124Y, P127L, G130R, T131N, M133T, C137S, G145A) and TMD region substitutions (i.e., E2K/R/D, G7D/R, G10D, A17R, F20L/S, L21V, L22V).ConclusionsAccording to the results of T-lymphocyte subsets and serum cytokines, it can be deduced that the cellular immune function of HBsAg-negative patients is superior to that of HBsAg-positive patients, with attenuation of liver inflammation. HBsAg-negative patients may show a variety of mutations and amino acid replacement sites at high frequency in the HBV S region, and these mutations may lead to undetectable HBsAg, HBsAg antigenic changes or secretion inhibition.
Mechanisms of redox balance and inflammatory response after the use of methylprednisolone in children with multisystem inflammatory syndrome associated with COVID-19
Authors: Krasic Stasa , Vukomanovic Vladislav , Ninic Sanja , Pasic Srdjan , Samardzija Gordana , Mitrovic Nemanja , Cehic Maja , Nesic Dejan , Bajcetic Milica 
Published: August 2023

BackgroundMultisystem inflammatory syndrome in children (MIS-C) associated with being infected with coronavirus-19 (COVID-19) is a life-threatening condition resulting from cytokine storm, increased synthesis of reactive oxygen species (ROSs), and hyperinflammation occurring in genetically predisposed children following an infection with SARS-CoV-2.AimThe primary aims of our study were to identify changes in the activity of antioxidant enzymes in erythrocytes and total oxidative status in plasma after being treated with methylprednisolone (MP).MethodsA prospective cohort study of 67 children (56.7% male) under 18 with MIS-C being treated with MP was conducted at the Mother and Child Health Institute from January 2021 to April 2022. The impact of the therapy was assessed on the basis of the clinical condition, haematological and biochemical blood parameters, and echocardiographic findings.Results59.7% of patients presented cardiovascular (CV) manifestations, while myocardial dysfunction was observed in half of all patients (50.7%). A severe clinical course was observed in 22/67 patients. Children with CV involvement had a significantly higher relative concentration of B lymphocytes and lower relative concentration of NK cells than patients without CV issues (p &lt; 0.001 and p = 0.004, respectively). Patients with severe MIS-C had a lower relative count of NK cells than those with moderate MIS-C (p = 0.015). Patients with myocardial dysfunction had a higher total oxidative plasma status (TOPS) than children without (p = 0.05), which implicates pronounced oxidative stress in the former cohort. In patients with shock, lower erythrocytes superoxide dismutase (SOD) activity was observed on admission compared to patients without shock (p = 0.04). After MP was administered, TOPS was significantly reduced, while catalase (CAT) and SOD activity increased significantly. Treatment failure (TF) was observed in 6 patients, only females (p=0.005). These patients were younger (p=0.05) and had lower CAT activity on admission (p=0.04) than patients with favorable treatment responses. In the group of patients with TF, TOPS increased after treatment (before 176.2 ± 10.3 mV, after 199.0 ± 36.7 mV).ConclusionMP leads to rapid modulation of TOPS and increases the activity of antioxidant enzymes in erythrocytes resulting in clinical and echocardiographic improvement. Based on the observed changes in the activity of the antioxidant enzymes, we can conclude that s hydrogen peroxide is the dominant ROS in patients with MIS-C. Patients with TF showed reduced CAT activity, whereas the treatment with MP led to pronounced oxidation. This implies that low CAT activity may be a contraindication for using MP.
Inter-task transfer of force gains is facilitated by motor imagery
Authors: Piveteau Eric , Di Rienzo Franck , Bolliet Olivier , Guillot Aymeric 
Published: August 2023

IntroductionThere is compelling evidence that motor imagery (MI) contributes to improve muscle strength. While strong effects have been observed for finger muscles, only few experiments with moderate benefits were conducted within applied settings targeting large upper or lower limb muscles. The aim of the present study was therefore to extend the investigation of embedded MI practice designed to improve maximal voluntary strength on a multi-joint dynamic exercise involving the lower limbs. Additionally, we tested whether targeting the content of MI on another movement than that physically performed and involving the same body parts might promote inter-task transfer of strength gains.MethodsA total of 75 participants were randomly assigned into three groups who underwent a physical training on back squat. During inter-trial recovery periods, a first MI group (n = 25) mentally rehearsed the back squat, while a second MI group (n = 25) performed MI of a different movement involving the lower limbs (deadlift). Participants from the control group (n = 25) completed a neutral cognitive task during equivalent time. Strength and power gains were assessed ecologically using a velocity transducer device at 4 different time periods.ResultsData first revealed that participants who engaged in MI of the back squat improved their back squat performance (p &lt; 0.03 and p &lt; 0.01, respectively), more than the control group (p &lt; 0.05), hence supporting the positive effects of MI on strength. Data further supported the inter-task transfer of strength gains when MI targeted a movement that was not physically trained (p = 0.05).DiscussionThese findings provide experimental support for the use of MI during physical training sessions to improve and transfer force development.
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia
Authors: Rezayee Fatemah , Eisfeldt Jesper , Skaftason Aron , Öfverholm Ingegerd , Sayyab Shumaila , Syvänen Ann Christine , Maqbool Khurram , Lilljebjörn Henrik , Johansson Bertil , Olsson-Arvidsson Linda , Pietras Christina Orsmark , Staffas Anna , Palmqvist Lars , Fioretos Thoas , Cavelier Lucia , Fogelstrand Linda , Nordlund Jessica , Wirta Valtteri , Rosenquist Richard , Barbany Gisela 
Published: August 2023

IntroductionThe suitability of whole-genome sequencing (WGS) as the sole method to detect clinically relevant genomic aberrations in B-cell acute lymphoblastic leukemia (ALL) was investigated with the aim of replacing current diagnostic methods.MethodsFor this purpose, we assessed the analytical performance of 150 bp paired-end WGS (90x leukemia/30x germline). A set of 88 retrospective B-cell ALL samples were selected to represent established ALL subgroups as well as ALL lacking stratifying markers by standard-of-care (SoC), so-called B-other ALL.ResultsBoth the analysis of paired leukemia/germline (L/N)(n=64) as well as leukemia-only (L-only)(n=88) detected all types of aberrations mandatory in the current ALLTogether trial protocol, i.e., aneuploidies, structural variants, and focal copy-number aberrations. Moreover, comparison to SoC revealed 100% concordance and that all patients had been assigned to the correct genetic subgroup using both approaches. Notably, WGS could allocate 35 out of 39 B-other ALL samples to one of the emerging genetic subgroups considered in the most recent classifications of ALL. We further investigated the impact of high (90x; n=58) vs low (30x; n=30) coverage on the diagnostic yield and observed an equally perfect concordance with SoC; low coverage detected all relevant lesions.DiscussionThe filtration of the WGS findings with a short list of genes recurrently rearranged in ALL was instrumental to extract the clinically relevant information efficiently. Nonetheless, the detection of DUX4 rearrangements required an additional customized analysis, due to multiple copies of this gene embedded in the highly repetitive D4Z4 region. We conclude that the diagnostic performance of WGS as the standalone method was remarkable and allowed detection of all clinically relevant genomic events in the diagnostic setting of B-cell ALL.
Measurement of the normal mandible in neonates in east China
Authors: Jiang Shupei , Han Tao , Shen Weimin 
Published: August 2023

ObjectiveWe aimed to measure the related indicators of the neonatal mandible in East China. This provides basic data for the study of the mandible position and morphology of normal newborns and can also provide data support for the diagnosis, evaluation, and treatment of the Pierre Robin sequence.MethodsFirst, we collected the CT data of normal neonates at the Nanjing Children's Hospital Affiliated with Nanjing Medical University between January 2013 and January 2019. The data included the maxilla and mandible, and neonates had no craniomaxillofacial-related malformation. We exported the data in DICOM format. In the second step, we imported the data into MIMICS 21.0 to reconstruct the data into a 3D model, and then we used the model to measure the different measurement items. Specific measurement items were as follows: ① Measurement of the angle α: We imported the CT data of the neonate into the software and reconstructed a 3D model. We observed the 3D model to find the left and right gonions (LGo and RGo) and the Menton (Me) and used the angle measurement tool of the software to appoint Me as the apex, and we connected the points LGo, Me, and RGo as angle α. ② Measurement of the distance between the left and right gonions: The distance measurement tool of the software was used to measure the distance between the bilateral gonions as a. ③ Measurement of the distance from the Me to the line between LGo and RGo: The LGo and RGo were connected as a line on the 3D model, then the distance between Me and the line was measured as b. ④ Measurement of the distance between the upper and lower jaw: The median sagittal view was found and the distance c between the foremost point of the upper jaw and the foremost point of the lower jaw was measured. We imported the measurement results into the SPSS software for statistical analysis.ResultsSpecific measurement results: ① Angle α: 86.34 ± 8.58°. ② Distance a: 63.63 ± 6.83 mm. ③ Distance b: 31.99 ± 3.70 mm. ④ Distance c: 2.28 ± 1.04 mm. Among all the above indicators, there was no statistical difference between gender.ConclusionsIn this study, 132 neonates were initially screened, of which 117 met the inclusion criteria and were finally included. There were 69 male and 48 female neonates. The indicators α, a, b, and c showed no statistical differences between male and female neonates; therefore, we combined the results to obtain the normal reference value: angle α: 86.34 ± 8.58°; distance a: 63.63 ± 6.83 mm; distance b: 31.99 ± 3.70 mm; distance c: 2.28 ± 1.04 mm.
Importance-performance analysis in fitness apps. A study from the viewpoint of gender and age
Authors: Martín Francisco , García-Fernández Jerónimo , Valcarce-Torrente Manel , Bernal-García Ainara , Gálvez-Ruiz Pablo , Angosto-Sánchez Salvador 
Published: August 2023

BackgroundWe are currently undergoing a profound process of digital transformation that has favoured the development and use of apps in multiple facets of people’s daily lives. In the fitness industry, this situation has facilitated the control of exercise and the maintenance of healthier lifestyles. However, it is not known how the perceived quality and importance of fitness apps vary for users based on gender and age, which is the objective of this study conducted among users of fitness centres.MethodsBy means of a convenience sample, 321 users from different centres of the boutique fitness chain Sano Centre (238 females and 83 males) took part in the study. They answered the 16 items of the MARS scale, distributed in four dimensions, in terms of importance and perceived quality. The existence of significant differences was analysed using non-parametrical statistics such as the U-Mann-Whitney (gender) and the H-Kruskal-Wallis (age). In addition, a cluster analysis, combining hierarchical and non-hierarchical methods, was analysed considering as a dependent variable the level of recommendation of fitness apps.ResultsConsidering gender, in importance-performance analysis (IPA), credibility was the most important attribute for females and quality of information for males. In the case of age, credibility was the most important attribute in all the ranges. The cluster analysis established two groups (high and low recommendations of the fitness app). In importance, the first group scored better on all factors except entertainment and interest. In valuation, the scores were lower than on importance, especially in the low recommendation group.ConclusionRegarding usage behaviour, credibility is the factor to which users attach the highest importance and rating, regardless of gender and age. The main demand focuses on improving the gestural design and visual appeal, which will facilitate a better user experience.
The Influence of Phenol on the Growth, Morphology and Cell Division of Euglena gracilis
Authors: Lukáčová Alexandra , Lihanová Diana , Beck Terézia , Alberty Roman , Vešelényiová Dominika , Krajčovič Juraj , Vesteg Matej 
Published: August 2023

Phenol, a monocyclic aromatic hydrocarbon with various commercial uses, is a major pollutant in industrial wastewater. Euglena gracilis is a unicellular freshwater flagellate possessing secondary chloroplasts of green algal origin. This protist has been widely used for monitoring the biological effect of various inorganic and organic environmental pollutants, including aromatic hydrocarbons. In this study, we evaluate the influence of different phenol concentrations (3.39 mM, 3.81 mM, 4.23 mM, 4.65 mM, 5.07 mM, 5.49 mM and 5.91 mM) on the growth, morphology and cell division of E. gracilis. The cell count continually decreases (p < 0.05–0.001) over time with increasing phenol concentration. While phenol treatment does not induce bleaching (permanent loss of photosynthesis), the morphological changes caused by phenol include the formation of spherical (p < 0.01–0.001), hypertrophied (p < 0.05) and monster cells (p < 0.01) and lipofuscin bodies. Phenol also induces an atypical form of cell division of E. gracilis, simultaneously producing more than 2 (3–12) viable cells from a single cell. Such atypically dividing cells have a symmetric “star”-like shape. The percentage of atypically dividing cells increases (p < 0.05) with increasing phenol concentration. Our findings suggest that E. gracilis can be used as bioindicator of phenol contamination in freshwater habitats and wastewater.
CULTURAL APPROPRIATENESS OF IVAN ZIAZIUN’S “PEDAGOGY OF GOODNESS”
Authors: Filipchuk H. , Filipchuk N. 
Published: August 2023

The article summarizes the ideas of the doctor of philosophy, professor, academician of the National Academy of Sciences of Ukraine, long-term director of the Institute of Pedagogy and Psychology of Professional Education (now Ivan Ziaziun Institute of Pedagogical Education and Adult Education of the National Academy of Sciences of Ukraine) Ivan Andriiovych Ziaziun. The scientist was and remains one of the few representatives of the academic pedagogical elite who professed the “philosophy of the heart” in the education of a person, a people, and a nation, realizing himself and conveying to others the importance of the principles of nationality and citizenship. It has been proven that Ziaziun’s worldviews, evaluations, and conclusions were clearly consistent with the ideas of famous Ukrainian teachers and educators H. Skovoroda, P. Yurkevych, B. Hrinchenko, H. Vashchenko, S. Rusova, V. Sukhomlynskyi, K. Ushynskyi.
Attention is focused on the fact that according to I. A. Ziaziun’s conviction, a pedagogue, teacher, and enlightener is the main subject of civilizational progress, able to unite and educate the people in the image of a full-blooded nation, which contains in its structure not only good “those who sow buckwheat”, but above all wise spiritual leaders and courageous warriors. That is why the afterword of his boo-confession “Pedagogy of Goodness” contains his emotional address, in which he especially singles out the Teacher’s mission.
It has been found that I. A. Ziaziun’s understanding of the modern school essence, the significance of “learning well” value is unthinkable without quality pedagogical work of the mind and heart. That is why he professed Skovoroda’s "Philosophy of the Heart". It is a product of Ukrainian intellectual thought, in psycho-pedagogical theory and practice, and his creative life. Honor to the Mother, the son’s duty, national shrines, Ukraine, universal human values and ideals, a moral example in upbringing, civic position, and rank were ethical measures of personality for Ziaziun. Therefore, he was always a supporter of returning to education a sense of honor, and national and human dignity in his society, and at the level of interstate relations, he taught not to serve other countries and peoples like a serf.
ENVIRONMENTAL MANAGEMENT AND AUDIT: HISTORY OF DEVELOPMENT AND GENESIS
Authors: Diachenko-Bohun M. 
Published: August 2023

The review article presents the prerequisites for environmental management and auditing establishment and development as significant tools for regulating the impact of economic activity on the natural environment and as an integral component of the modern practice of sustainable business development. The key points of environmental management and audit development are indicated. They are the following: the adoption of new legislative acts regarding the regulation of the impact of economic activity on the environment, the creation of the first environmental funds, the introduction of environmental standardization and certification, the improvement of environmental management and audit systems in the context of the adoption of the Sustainable Development Goals and the intensification of the transition enterprises to “green business”. The article mentions the prominent scientists whose influence has been noted on the development of environmental management and audit during the entire cycle of their development.
The article provides and describes the advantages of using environmental management and audit systems as modern tools of environmental regulation of the economic activity of enterprises, the advantages of the transition of enterprises and institutions to “green business” and the introduction of internal systems of environmental regulation to increase the competitiveness of a business object on the modern economic market.