bluuebunny/crossref_metadata_2025_split huggingface dataset:
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss
Authors: Kim So Young , Kim Bong Jik , Oh Doo Yi , Han Jin Hee , Yi Nayoung , Kim Namju Justin , Park Moo Kyun , Keum Changwon , Seo Go Hun , Choi Byung Yoon 
Published: July 2022

AbstractThe 2018 Hearing Loss Expert Panel (HL-EP)-specific guidelines specified from the universal 2015 ACMG/AMP guidelines are proposed to be used in genetic HL, which prompted this study. A genetic HL cohort comprising 135 unrelated probands with available exome sequencing data was established. Overall, 169 variants were prioritized as candidates and interpreted using the 2015 ACMG/AMP and 2018 HL-EP guidelines. Changes in rule application and variant classification between the guidelines were compared. The concordance rate of variant classification of each variant between the guidelines was 71.60%, with significant difference. The proportion of pathogenic variants increased from 13.02% (2015) to 29.59% (2018). Variant classifications of autosomal recessive (AR) variants that previously belonged to VUS or likely pathogenic in the 2015 guidelines were changed toward pathogenic in the 2018 guidelines more frequently than those of autosomal dominant variants (29.17% vs. 6.38%, P = 0.005). Stratification of the PM3 and PP1 rules in the 2018 guidelines led to more substantial escalation than that in the 2015 guidelines. We compared the disease-specific guidelines (2018) with the universal guidelines (2015) using real-world data. Owing to the sophistication of case-level data, the HL-specific guidelines have more explicitly classified AR variants toward “likely pathogenic” or “pathogenic”, serving as potential references for other recessive genetic diseases.
Prognostic value of molecular cytology by one-step nucleic acid amplification (OSNA) assay of peritoneal washings in advanced gastric cancer patients
Authors: Gęca Katarzyna , Skórzewska Magdalena , Rawicz-Pruszyński Karol , Mlak Radosław , Sędłak Katarzyna , Pelc Zuzanna , Małecka-Massalska Teresa , Polkowski Wojciech P. 
Published: July 2022

AbstractPeritoneal dissemination is a common form of gastric cancer (GC) recurrence, despite surgery with curative intent. This study aimed to evaluate the prognostic value of intraperitoneal lavage One-Step Nucleic Acid Amplification (OSNA) assay in advanced GC patients. OSNA assay targeting CK-19 mRNA was applied to detect free cancer cells (FCC) in intraperitoneal lavage samples obtained during gastrectomy. A total of 82 GC patients were enrolled to investigate the correlation between OSNA assay and patient’s prognosis. Of the 82 patients, OSNA assay was positive in 25 (30.5%) patients. The median OS in OSNA positive patients was significantly lower than in OSNA negative patients (19 vs 45 months). Positive OSNA assay result was a significant unfavourable prognostic factor in both, univariable (HR 3.45, 95% CI 0.95–12.48; p = 0.0030) and multivariable analysis (HR 3.10, 95% CI 1.22–8.54; p = 0.0298). Positive OSNA assay in intraperitoneal lavage is a valuable indicator of poor survival in advanced GC patients after multimodal treatment. After further confirmation on larger sample size, OSNA assay of peritoneal washings could be considered an adjunct tool to conventional cytology, the current gold standard, to provide precise intraoperative staging and additional prognostic information.
Distinct antibody clones detect PD-1 checkpoint expression and block PD-L1 interactions on live murine melanoma cells
Authors: Martins Christina , Silva Mariana , Rasbach Erik , Singh Praveen , Itoh Yuta , Williams Jason B. , Statham Edith , Meurer Anna , Martinez Daniela V. , Brandenburg Anne , Heppt Markus V. , Barthel Steven R. , Schatton Tobias 
Published: July 2022

AbstractMonoclonal antibodies (abs) targeting the programmed cell death 1 (PD-1) immune checkpoint pathway have revolutionized tumor therapy. Because T-cell-directed PD-1 blockade boosts tumor immunity, anti-PD-1 abs have been developed for examining T-cell-PD-1 functions. More recently, PD-1 expression has also been reported directly on cancer cells of various etiology, including in melanoma. Nevertheless, there is a paucity of studies validating anti-PD-1 ab clone utility in specific assay types for characterizing tumor cell-intrinsic PD-1. Here, we demonstrate reactivity of several anti-murine PD-1 ab clones and recombinant PD-L1 with live B16-F10 melanoma cells and YUMM lines using multiple independent methodologies, positive and negative PD-1-specific controls, including PD-1-overexpressing and PD-1 knockout cells. Flow cytometric analyses with two separate anti-PD-1 ab clones, 29F.1A12 and RMP1-30, revealed PD-1 surface protein expression on live murine melanoma cells, which was corroborated by marked enrichment in PD-1 gene (Pdcd1) expression. Immunoblotting, immunoprecipitation, and mass spectrometric sequencing confirmed PD-1 protein expression by B16-F10 cells. Recombinant PD-L1 also recognized melanoma cell-expressed PD-1, the blockade of which by 29F.1A12 fully abrogated PD-1:PD-L1 binding. Together, our data provides multiple lines of evidence establishing PD-1 expression by live murine melanoma cells and validates ab clones and assay systems for tumor cell-directed PD-1 pathway investigations.
Optimal peripheral nerve stimulation intensity for paired associative stimulation with high-frequency peripheral component in healthy subjects
Authors: Pohjonen Markus , Nyman Anna-Lena , Kirveskari Erika , Arokoski Jari , Shulga Anastasia 
Published: July 2022

AbstractPaired associative stimulation (PAS) with high-frequency peripheral nerve stimulation (PNS), called “high-PAS”, induces motor-evoked potential (MEP) potentiation in healthy subjects and improves muscle activity and independence in incomplete spinal cord injury patients. Data on optimal PNS intensity in PAS are scarce. In a high-PAS protocol, PNS intensity is defined as “minimal intensity required to produce F-responses”. We sought to further refine this definition and to investigate how PNS intensity affects PAS outcome. Two experiments were performed on 10 healthy subjects where MEP amplitude change was measured 0, 30, and 60 min after PAS. In the first experiment, the intensity required to achieve 7/10 persistence of F-responses was used to define PNS intensity level. In the second experiment, we used the intensity required to achieve 1/10 persistence (“baseline”). In addition, we applied this intensity at + 25%, − 25%, and − 50% levels. In the first experiment, PAS did not produce significant MEP potentiation. In the second experiment, PAS produced statistically significant MEP potentiation, with PNS intensity of “baseline” and “baseline − 25%” levels but not at + 25% or − 50% levels. In conclusion, for PAS utilizing high-frequency PNS, the intensity required to achieve 1/10 F-response persistence or the intensity 25% lower produces significant MEP potentiation in healthy subjects.
Joint Profile Characteristics of Long-Latency Transient Evoked and Distortion Otoacoustic Emissions
Authors: Pacheco Devon , Rajagopal Nandhini , Prieve Beth A. , Nangia Shikha 
Published: July 2022

Purpose:
In clinical practice, otoacoustic emissions (OAEs) are interpreted as either “present” or “absent.” However, OAEs have the potential to inform about etiology and severity of hearing loss if analyzed in other dimensions. A proposed method uses the nonlinear component of the distortion product OAEs together with stimulus frequency OAEs to construct a joint reflection–distortion profile. The objective of the current study is to determine if joint reflection–distortion profiles can be created using long-latency (LL) components of transient evoked OAEs (TEOAEs) as the reflection-type emission.

Method:
LL TEOAEs and the nonlinear distortion OAEs were measured from adult ears. Individual input–output (I/O) functions were created, and OAE level was normalized by dividing by the stimulus level yielding individual gain functions. Peak strength, compression threshold, and OAE level at compression threshold were derived from individual gain functions to create joint reflection–distortion profiles.

Results:

TEOAEs with a poststimulus window starting at 6 ms had I/O functions with compression characteristics similar to LL TEOAE components. The model fit the LL gain functions, which had
R
2
> .93, significantly better than the nonlinear distortion OAE gain functions, which had
R
2
= .596–.99. Interquartile ranges for joint reflection–distortion profiles were larger for compression threshold and OAE level at compression threshold but smaller for peak strength than those previously published.

Conclusions:
The gain function fits LL TEOAEs well. Joint reflection–distortion profiles are a promising method that could enhance diagnosis of hearing loss, and use of the LL TEOAE in the profile for peak strength may be important because of narrow interquartile ranges.

Supplemental Material:

https://doi.org/10.23641/asha.20323593
Quantification of behavioural variation among sheep grazing on pasture using accelerometer sensors
Authors: Almasi F. , Nguyen H. , Heydarian D. , Sohi R. , Nikbin S. , Jenvey C. J. , Halliwell E. , Ponnampalam E. N. , Desai A. , Jois M. , Stear M. J. 
Published: July 2022

Context Monitoring the behaviour of animals can provide early warning signs of disease or indicate loss of appetite. Also, an understanding of the variation in behaviours among animals and their distributions is essential for meaningful statistical inference. Therefore, quantifying the variation of behaviours is of both biological and statistical interest. Aim The objectives of this study were to determine the distributions and quantify the variation among animals with respect to the times spent grazing, ruminating, idling, walking, and licking. Methods The activities of 147 (male = 67, female = 80) Merino lambs at 10–11 months of age on a commercial farm in Edenhope, Victoria, Australia were recorded for 26 days, using ActiGraph accelerometer sensors attached to the left side of the sheep’s muzzle. The male and female sheep were kept in separate paddocks. A Support Vector Machine algorithm was used to differentiate sheep behaviour into six categories: grazing, ruminating, idling, walking, licking, and other activities. The distributions of behaviours were analysed using energy statistics-based tests and Generalised Additive Models for Location, Scale, and Shape (GAMLSS). Different distributions were compared using Akaike Information Criterion (AIC) values. Key results Among the distributions that were considered, we found that times spent ruminating in both male and female sheep populations as well as idling in male sheep were best described by the skew exponential type 2 distribution. Grazing, walking and licking behaviours were best described by the Box–Cox t distribution. The distribution of time spent grazing was symmetrical and unimodal in males, and adequately modelled by a normal distribution, but the distribution in females had a prominent left skew. Also, we found that females typically grazed for a longer time than males. However, males spent more time ruminating than grazing. Conclusions The time spent by the animal in each activity varied during the day. Within each population, the variation among animals in the time spent grazing was best described by a Box–Cox t distribution. Implications This study has enhanced our understanding of grazing behaviour and will facilitate more appropriate analyses of the causes of variation among animals in grazing behaviour.
Under the shadow of swords: The Rhetoric of Jihad
Authors: Patterson Katie J. 
Published: July 2022

Abstract
The ideological discourse of Jihadist groups like Al Qaeda or Islamic State is largely built on the use of persuasive techniques which act as instruments for radicalisation and recruitment, and more generally, “convince the audience of the veracity of the doctrine presented” (Adam 2017: 5). This article explores the use of metaphor as an important rhetorical and ideological dimension to jihadist texts. Current findings suggest that religious writings often make use of rich conceptual metaphors to convey distinctive ideological perspectives (Prentice, Rayson and Taylor 2012), for instance, the well-known journey conceptual metaphor, with the image schemata of a path, leading towards a better life, reward in an afterlife, moral choice, hope, and a closeness to God (Jäkel 2002). Specifically, the research adopts a Critical Metaphor Analysis framework (Charteris-Black 2004), which combines Corpus Linguistics with Cognitive Linguistics and Critical Discourse Analysis. The data for this study is taken from a collection of jihadist online magazines. The corpus has been compared against the Qur’an in order to ascertain whether jihadist propaganda writers are inspired by conventional religious tropes as a way of giving authority to their doctrines. The results show that religiously inspired concepts do indeed help the writers to anchor their message to a deeply seated and authoritative set of ideologies. At the same time, semantic and pragmatic differences in the use of these metaphors suggest an ability to manipulate pre-existing conceptualisations in order to fulfil the communicative needs of the writers, i.e. to embody the principles of jihadism. The findings presented here focus on the following domains: religion as a journey; light as good; heat as fighting; and spirituality as nature.
Physical activity measured by accelerometry among adolescents participating in sports clubs and non‐participating peers
Authors: Toivo K. , Vähä‐Ypyä H. , Kannus P. , Tokola K. , Alanko L. , Heinonen O. J. , Korpelainen R. , Parkkari J. , Savonen K. , Selänne H. , Kokko S. , Kujala U. M. , Villberg J. , Vasankari T. 
Published: July 2022

ABSTRACTThe purpose of this descriptive cross‐sectional study is to describe the amount and intensity of physical activity (PA) measured by accelerometry among adolescents participating in organized sports (SCP) and age‐matched non‐participating peers (NP). SCPs (332) and NPs (139) wore an accelerometer on the hip for seven days. PA was reported using the 1‐min exponential moving average. The current moderate‐to‐vigorous physical activity (MVPA) recommendation of at least an average of 60 min of MVPA daily was reached by 85% of SCPs and 45% of NPs (p < .001). During training days, the MVPA times among SCPs ranged from 153 ± 39 min in males and 109 ± 35 min in females participating in basketball to 113 ± 33 min in males participating in floorball and 83 ± 32 min in females participating in gymnastics. Sports participation contributes rather strongly to the accumulation of the recommended amount of MVPA. During training days, SCPs, except for females participating in gymnastics, accumulated more MVPA than NPs. During non‐training days, only males participating in cross‐country skiing and females participating in track and field accumulated more MVPA than NPs.
How many phases nucleate in the bidimensional Potts model?
Authors: Corberi Federico , Cugliandolo Leticia F , Esposito Marco , Mazzarisi Onofrio , Picco Marco 
Published: July 2022

Abstract
We study the kinetics of the two-dimensional q > 4-state Potts model after a shallow quench to a temperature slightly below the critical one and above the pseudo spinodal. We use numerical methods and we focus on intermediate values of q, 4 < q ⩽ 100. We show that, initially, the system evolves as if it were quenched to the critical temperature: the configurations exhibit correlations that are indistinguishable from the ones in equilibrium at T
c(q) over longer and longer length scales as time elapses. The further decay from the metastable state occurs by nucleation of an average number k out of the q possible phases. For a given quench temperature, k is a logarithmically increasing function of the system size, bounded by q. This unusual finite size dependence is a consequence of a scaling property underlying the nucleation phenomenon for these parameters.
Quick Response (QR) Code Assisted Learning Media on System Materials for Distance Learning Sky Coordinates
Authors: Serevina Vina , Nurhasanah Dewi , Shaladsha  
Published: July 2022

Abstract
This study discusses whether there is an increase in learning carried out by students on the use of multimedia assisted by QR code on the material eye of the sky coordinate system which in its implementation uses the google meet platform. This study used experimental research methods by pretest and posttest. Based on the results of the evaluation that had been carried out on 10 students of Senior High School 51 Jakarta, Indonesia using the pretest and posttest, the average pretest results were 78.00 and the average posttest results were 87.12 using the Paired sample T-test. It can be concluded that there is a difference in the average learning outcomes between the pretest and posttest, meaning that there is an increase in learning in the material of the sky coordinate system after using multimedia assisted by QR code. This online learning tool can be said to be very good and suitable for use in the material of the sky coordinate system. So, multimedia assisted by QR code is effective and suitable for the learning process of the sky coordinate system.
Tool modelling system of atwood machine with remote control of released objects for tracker video analysis
Authors: Asrizal  , Pratiwi Trisna , Yohandri  
Published: July 2022

Abstract
An interesting physical phenomenon to observe is the dynamics of motion. A physics tool to observe the dynamics of motion phenomena can be used Atwood machine. From the result of observation, it was known that the Atwood machine experiment was still done manually by using the ruler and stopwatch to determine the velocity and acceleration of a falling object. Besides that, the Atwood machine experiment manually had a big error and was unable to visualize the results of the experiment. A solution to solve this problem is to use a tracker video analysis and tool modeling. The analysis result on the tracker can display the position graph, the velocity graph, the acceleration graph, and the rope tension graph. Based on the data analysis, It can be stated third research results. First, the tool modeling system of atwood machine with remote control has good performance specifications. Second, the accuracy and precision of the tool modeling system of Atwood machine with remote control can be put in the high category. Third, the tool modeling system of atwood machine with remote control is able to display the characteristics of linier motion with constant acceleration and linier motion with constant velocity.
Development of online learning implementation plan (LIP) based entrepreneurship-based learning on static fluid material
Authors: Meganingtyas Devi Eka Wardani , Serevina Vina , Valentina Febi , Soraya Sofiyan 
Published: July 2022

Abstract
This study aims to produce a Physics Learning Implementation Plan model based on Entrepreneurship Based Learning on Static Fluids for students at Public High School 6, Karawang, Indonesia which can be used as a learning resource for teachers. This research used a Research and Development (R&D) model through Validation conducted by curriculum experts and material experts. The lesson plans were developed and tested on 7 high school teachers in Karawang Regency. The data analysis technique used quantitative descriptive analysis on the results of the validation scores. This study resulted on a Physics Learning Implementation Plan model based on entrepreneurship learning on Static Fluids for students at Public High School 6, Karawang, Indonesia. With the presentation of assessments from 2 curriculum experts of 79% (good), from 2 material experts of 80% (good), and teacher trials of 78.6% (good), the results of this research on the Physics LIP based on entrepreneurship learning model on static fluid material for students at Public High School 6, Karawang, Indonesia, with in the result of final product was 79.2% (good).
The Development and Usability of a Force and Motion Digital Game using Game-based learning (GBL) among Student Teachers in Malaysia
Authors: Lau Jim Tze Ho , Tho Siew Wei , Radzwan Afiq 
Published: July 2022

Abstract
This study aimed to develop and evaluate the usability of a Force and Motion Digital Game using Game-based learning (GBL) among physics student teachers in tertiary education. The research design of this study was developmental research based on the Instructional Design-Digital Game Based Learning model (ID-DGBL model). A group of samples of 21 student teachers were chosen using cluster sampling methods for the usability test of the developed game. A questionnaire instrument was used to collect the usability data of the developed game adapted from the user testing on game. The data collected was analysed using descriptive statistics such as percentage, mean and standard deviation. Based on the findings, the percentage of expert’s agreement for the developed game and questionnaire in the validity process were 100%, while the overall mean score for the usability of the developed game was 4.74 (SD=0.33) including the constructs of Game Usability (GU), Playability (PL), and Learning Content (LC). In the conclusion, the developed game was valid and reliable, as well as suitable to be used as game-based learning for the topic of Force and Motion. In the implication, the developed game was able to complement the conventional learning process by using the game-based learning.
The Effectiveness of E-Simulation with Asynchronous Learning Concept to Improving Students Uderstanding in Physics Education Department FKIP Indonesia Open University
Authors: Zakirman  , Fendriani Yoza , Rahayu Chichi 
Published: July 2022

AbstractThis research is motivated by the constraints of students in the Physics Education of FKIP UT who run the concept of asynchronous learning to carry out practical/demonstration activities during course tutorial activities so that it has an impact on low understanding and learning outcomes. E-simulation is here as a solution to improve understanding and strengthen theory for students during tutorial activities. This type of research is a quasi-experimental study involving a sample class of students taking mechanics courses in the 2021.1 Academic Year in Physics Education department FKIP UT. The data collection instrument in this study was an assessment sheet for student learning outcomes in the form of multiple-choice tests, and analysed using the paired sample t-test. Based on the results of the analysis, it can be concluded that the use of e-simulation can significantly improve students’ understanding with a sig value. 2 tailed 0.000. E-simulation will continue to be developed by the Physics Education department of FKIP UT in order to improve the quality of learning and provide better quality distance education services.
The Validity of STEM Integrated Electronic Learning Material on Elasticity Material to Improve Students’ 21st Century Skills
Authors: Asrizal  , Mardian Vivi , Festiyed  
Published: July 2022

Abstract
The development of science and technology is marked by the high competition of society in improving quality education. Quality education refers to the curriculum that the government has set, namely the 2013 curriculum. Teachers have not provided learning tools that follow the demands of the 2013 curriculum. The learning material used by teachers was not attractive and did not follow the development of science and technology, and have not integrated STEM, as evidenced by the percentage of availability STEM 48%. Teachers need learning materials that are practical, attractive, easy to understand, and economical to support the teaching and learning process. The purpose of this research was to determine the validity of developing STEM integrated electronic learning material on elasticity materials to improve students’ 21st-century skills. The research method is research and development by applying the Plomp model. The average validation result of the five experts is 88.0, which belongs to the high category. Therefore, research on developing STEM integrated electronic learning material can be applied during online and offline learning.