bluuebunny/crossref_metadata_2025_split huggingface dataset:
Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department
Authors: Horgan Sinead , Kotwal Huafrin , Malan Antonetta , Sekhri Neha , Lopes Luis R 
Published: December 2024

BackgroundThe utility of diagnostic genetic testing in cardiomyopathy has grown significantly, due to the discovery of novel genes and greater awareness among healthcare professionals. However, a substantial proportion of cases (around 50%) yield no causative genetic variants or have variants of unknown significance (VUS), limiting their use in clinical management and familial screening. The increase in data quantity and quality in reference databases, coupled with variant interpretation guidelines, allows for periodic reanalysis of VUS, potentially reducing diagnostic gaps.MethodsThis study presents a review of VUS results identified in hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and arrhythmogenic cardiomyopathy (ACM) probands over a 5-year period, using American College of Medical Genetics and Genomics criteria. A total of 248 VUS from 233 reports were reviewed, with the majority of patients with a diagnosis of HCM (n=112), followed by DCM (n=99) and ACM (n=22).ResultsFour (1.6%) VUS showed sufficient evidence to upgrade to likely pathogenic/pathogenic status, while 8 (3.2%) were downgraded to benign. The majority 236 (95.2%) remained VUS after reanalysis, of which 12 (4.7%) had potential to reclassification to benign or likely pathogenic/pathogenic depending on further data.ConclusionThe study emphasises the importance of periodic re-evaluation of VUS results for clinical management of probands as well as cascade testing. We show feasibility of conducting reclassification analysis in a referral centre, but highlight the need for ongoing collaboration between clinical and laboratory experts. Our work supports the current recommendation of reclassification every 3–5 years to keep pace with evolving evidence.
Comparing the Accuracy and Reliability of Detecting the Intensity of Spinal Inflammation on STIR Sequence with Apparent Diffusion Coefficient Values in Axial Spondyloarthritis
Authors: Chung Ho Yin , Cheung Tommy Tsang , Lau Vince Wing Hang , Lee Kam Ho , Chan Florence King Pui 
Published: December 2024

Objective: To compare the accuracy and reliability of detecting the intensity of spinal inflammation on short tau inversion recovery (STIR) with the apparent diffusion coefficient (ADC) values of the active magnetic resonance imaging (MRI) lesions in axial spondyloarthritis (axSpA). Materials and methods: Fifty active lesions in the STIR sequence of spinal MRI were identified. With reference to sites of active lesions in STIR, the corresponding region of interest (ROI) on the ADC map was drawn to determine the maximum ADC (ADC[Formula: see text]), mean ADC (ADC[Formula: see text]), normalized maximum (nADC[Formula: see text]), and mean (nADC[Formula: see text]). Four independent readers scored the identified active lesions as “intense” or “non-intense” according to the Spondyloarthritis Research Consortium of Canada (SPARCC) MRI index. They were compared to various ADC parameters for assessment of accuracy and reliability. Regression analyses were used to adjust potential factors that could affect ADC. Results: Significant differences were found in ADC [Formula: see text] between “intense” and “non-intense” lesions scored by three of the four readers (1,405.7 ± 271.4 vs. 1,165.8 ± 223.8, [Formula: see text] = 0.01; 1,420.7 ± 272.1 vs. 1,209.0 ± 248.5, [Formula: see text] = 0.01; 1,438.0 ± 307.2 vs. 1,213.6 ± 231.0, [Formula: see text] = 0.01). Only one reader could differentiate a difference in “intense” and “non-intense” lesions with respect to ADC[Formula: see text] (899.2 ± 248.3 vs. 711.0 ± 222.6, [Formula: see text] = 0.01) and nADC[Formula: see text] (4.4 ± 2.1 vs. 3.4 ± 1.4, [Formula: see text] = 0.05). Inter-reader agreements were slight to moderate (kappa = 0.07–0.45). Reliability substantially improved when only the lowest and highest 25th percentiles of ADC values were included (kappa = 0.17–0.75). Regression analyses showed that the “intense” lesions were associated with higher ADC values after adjustment for confounders. Conclusion: Reading of STIR MRI is limited by the lack of ability in differentiating subtle differences of spinal inflammation. ADC could be an alternative method.
Emotion Recognition from Spontaneous Tunisian Dialect Speech
Authors: Ibn Nasr Latifa , Masmoudi Abir , Hadrich Belguith Lamia 
Published: December 2024

Emotional expressions are a fundamental aspect of human communication, with speech being one of the most natural modes of interaction. Speech Emotion Recognition (SER) is a significant research topic in Natural Language Processing (NLP), aimed at identifying emotions such as satisfaction, frustration, and anger from speech audio using multiple classifiers. This article presents a method to emotion recognition from spontaneous Tunisian Dialect (TD) speech, marking the first work in the SER field to utilize spontaneous speech for emotion recognition in this dialect. The dataset was created from freely available YouTube videos across multiple domains and labeled with four perceived emotions: anger, satisfaction, frustration, and neutral.
To address the data scarcity issue, we implemented data augmentation techniques, specifically Vocal Tract Length Perturbation (VTLP). The preprocessing of the speech signals involved cleaning the data from ambient and unwanted noises. We extracted and selected various spectral features, including Mel-Frequency Cepstral Coefficients (MFCCs) and Linear Prediction Cepstral Coefficients (LPCC). Subsequently, we applied several classification methods: Support Vector Machine (SVM), Bidirectional Long Short-Term Memory (BiLSTM), Long Short-Term Memory (LSTM), Convolutional Neural Network (CNN), and Random Forest.
Our experiments demonstrated that the Random Forest classifier achieved the highest F-score of 58.75%. The results were thoroughly discussed, analyzed, and compared across the five models using different feature extractions. This study provides valuable insights and advancements in the SER field, particularly for the TD, for future research directions for improving emotion recognition systems.
Thymidine Phosphorylase Promotes Abdominal Aortic Aneurysm via VSMC Modulation and Matrix Remodeling in Mice and Humans
Authors: Hong Liang , Yue Hong , Cai Dunpeng , DeHart Autumn , Toloza-Alvarez Gretel , Du Lili , Zhou Xianwu , Fan Xiaoping , Huang Huanlei , Chen Shiyou , Rahaman Shaik O. , Zhuang Jian , Li Wei 
Published: December 2024

Background: Thymidine phosphorylase (TYMP) promotes platelet activation and thrombosis while suppressing vascular smooth muscle cell (VSMC) proliferation. Both processes are central to the development and progression of abdominal aortic aneurysms (AAAs). We hypothesize that TYMP plays a role in AAA development.Methods: Male wild‐type (WT) C57BL/6J and Tymp−/− mice, fed a Western diet (WD) (TD.88137), were subjected to the 4‐week Ang II infusion–induced AAA model. AAA progression was monitored by echography and confirmed through necropsy. Whole‐body inflammation was assessed using a plasma cytokine array. Mechanistic studies were conducted using TYMP‐overexpressing rat VSMC cell lines and primary VSMCs cultured from WT and Tymp−/− mouse thoracic aortas. Histological studies were performed on human AAA and normal aorta samples.Results: Elevated TYMP levels were observed in human AAA vessel walls. While WT mice exhibited a 28.6% prevalence of Ang II infusion–induced AAA formation, Tymp−/− mice were protected. TYMP enhanced MMP2 expression, secretion, and activation in VSMCs, which was inhibited by tipiracil, a selective TYMP inhibitor. Systemically, TYMP promoted proinflammatory cytokine expression, and its absence attenuated TNF‐α‐induced MMP2 and AKT activation. WT VSMCs treated with platelets lacking TYMP showed a higher proliferation rate than cells treated with WT platelets. Additionally, TYMP increased activated TGFβ1 expression in cultured VSMCs and human AAA vessel walls. In WT VSMCs, TYMP augmented thrombospondin‐1 type 1 repeat domain (TSR)–stimulated TGFβ1 signaling, increasing connective tissue growth factor and MMP2 production. TSR also enhanced AKT activation in WT VSMCs but had the opposite effect in Tymp−/− cells. TSR‐enhanced MMP2 activation in WT VSMCs was attenuated by LY294002 (a PI3K inhibitor) but not by SB431542 (a TGFβ1 inhibitor); both inhibitors had indiscernible effects on Tymp−/− VSMC.Conclusion: TYMP emerges as a novel regulatory force in vascular biology, influencing VSMC function and inflammatory responses to promote AAA development.
Barriers for Responding to Pediatric Out‐of‐Hospital Cardiac Arrest During Emergency Medical Calls: A Qualitative Study
Authors: Kragh Astrid Rolin , Kjærholm Sofie Have , de Claville Holland Flarup Louise , Juul Grabmayr Anne , Borch‐Johnsen Liv , Folke Fredrik , Tjørnhøj‐Thomsen Tine , Hassager Christian , Malta Hansen Carolina 
Published: December 2024

Background
Rapid recognition of pediatric out‐of‐hospital cardiac arrest (POHCA) is a critical component to prompt initiation of bystander interventions. We aimed to investigate barriers for responding to POHCA during emergency medical calls.

Methods and Results
We included all POHCA calls (aged 0–18 years) from the emergency dispatch center in the Capital Region of Denmark between 2018 and 2021 and excluded POHCAs with no resuscitation order, found dead, where trained health professionals were on site, or where there was no possibility for initiation of cardiopulmonary resuscitation. A qualitative analysis was undertaken. POHCA calls were divided according to the speed of telecommunicator‐recognition into 3 groups: POHCA recognition within 90 seconds (group 1), POHCAs recognition >90 seconds (group 2), and POHCAs recognized by the emergency medical services at ambulance arrival (group 3). A total of 20 calls were included. We identified 3 major barriers to telecommunicator recognition of POHCA. First, prolonged conversations between callers and telecommunicators focusing on the cause of the child's condition rather than adherence to the assessment of consciousness and breathing. Second, challenges in assessing breathing such as cases where the child had agonal or unregular breathing or gasping breaths. Finally, callers who were unable to communicate or follow instructions from the telecommunicator.

Conclusions
Telecommunicator recognition of POHCA is challenged by factors such as prolonged conversations focusing on causes rather than initiating bystander interventions, barriers in assessing breathing, as well as callers' abilities to partake in communication with telecommunicators. Efforts to address these barriers in current dispatch protocols may improve recognition of POHCA.
Trends in Sudden Cardiac Death Among Adults Aged 25 to 44 Years in the United States: An Analysis of 2 Large US Databases
Authors: Zuin Marco , Mohanty Sanghamitra , Aggarwal Rahul , Bertini Matteo , Bikdeli Behnood , Hamade Nada , Leyva Hannah , Natale Andrea , Boriani Giuseppe , Piazza Gregory 
Published: December 2024

Background
Sudden cardiac death (SCD) in early adults aged 25 to 44 years represents an important and unexpected cause of death. We assessed trends in SCD‐related mortality in the United States from 1999 to 2020 among early adults to determine differences by sex, ethnoracial groups, urbanization, and census region.

Methods and Results
Mortality data were retrieved from the Centers for Disease Control and Prevention Wide‐Ranging Online Data for Epidemiologic Research (CDC WONDER) data set from 1999 to 2020. Age‐adjusted mortality rates were assessed using the Joinpoint regression modeling and expressed as estimated average annual percentage change with relative 95% CIs. Trends in prevalence of coronary artery disease/myocardial infarction, heart failure, and stroke, which may have contributed to SCD‐related mortality over the same period, were obtained from the National Health and Nutrition Examination Survey. From 1999 to 2020, 10 516 US early adults aged 25 to 44 years had SCD (7832 men and 2684 women), resulting in 3.72 deaths per 1000 population, or a mean of 478 deaths annually. The relative age‐adjusted mortality rate increased linearly (average annual percentage change: +1.0% [95% CI, 0.3–1.8]), without sex differences. The age‐adjusted mortality rate increase was more pronounced in Black patients, Hispanic/Latinx patients, and residents of rural areas. Higher absolute numbers of SCDs were clustered in the South (47.6%). During the same period, the prevalence of coronary artery disease/myocardial infarction, heart failure, and stroke plateaued. SCD‐related mortality associated with opioids/stimulants overdose significantly increased over the entire study period.

Conclusions
SCD‐related mortality among early adults has increased over the last 2 decades in the United States with notable racial and regional disparities.
Survival Differences in Asian and Hispanic Patients With In‐Hospital Cardiac Arrest
Authors: Sherrod Charles F. , Moskowitz Ari L. , Kennedy Kevin F. , Khan Mirza S. , Mohamed Amira M. , Ikemura Nobuhiro , Chan Paul S. ,   for the American Heart Association's Get With The Guidelines–Resuscitation Investigators
Published: December 2024

Background
Although they are fast‐growing populations in the United States, little is known about survival outcomes of Hispanic and Asian patients after in‐hospital cardiac arrest.

Methods and Results

In Get With The Guidelines–Resuscitation, we identified Asian, Hispanic, and White adults with in‐hospital cardiac arrest during 2005 to 2023. Using multivariable models, we compared rates of survival to discharge separately for Asian and Hispanic patients versus White patients, as well as rates of sustained return of spontaneous circulation for ≥20 minutes and favorable neurologic survival as secondary outcomes. Of 189 557 in‐hospital cardiac arrests, 167 640 (88.4%), 16 800 (8.9%), and 5117 (2.7%) patients were White, Hispanic, and Asian, respectively. Compared with the survival rate to discharge for White patients (22.0%), rates were lower for Hispanic (19.4%; adjusted odds ratio [OR], 0.93 [95% CI, 0.89–0.97];
P
<0.001) and Asian patients (17.8%; adjusted OR, 0.90 [95% CI, 0.83–0.97];
P
=0.008), and these differences were attenuated after accounting for the hospital at which patients received care (adjusted OR: Hispanic patients, 0.95 [95% CI, 0.91–1.00]; Asian patients, 0.91 [95% CI, 0.84–0.99]). Although there were no differences in rates of return of spontaneous circulation between White (68.7%), Hispanic (69.0%), and Asian patients (69.7%), both Asian and Hispanic patients were less likely to have favorable neurologic survival (White: 18.3%; Hispanic: 15.4%; adjusted OR, 0.88 [95% CI, 0.84–0.93]; Asian: 13.2%; adjusted OR, 0.80 [95% CI, 0.73–0.87]). These differences were also attenuated after accounting for hospital site.

Conclusions
Compared with White patients, Hispanic and Asian patients with in‐hospital cardiac arrest had lower rates of overall survival and favorable neurologic survival. Some of these differences were associated with the hospital at which patients received care.
Evaluating permutation-based inference for partial least squares analysis of neuroimaging data
Authors: Danyluik Matthew , Zeighami Yashar , Mukora Alice , Lepage Martin , Shah Jai , Joober Ridha , Misic Bratislav , Iturria-Medina Yasser , Chakravarty M. Mallar 
Published: December 2024

Abstract
Partial least squares (PLS) is actively leveraged in neuroimaging work, typically to map latent variables (LVs) representing brain–behaviour associations. LVs are considered statistically significant if they tend to capture more covariance than LVs derived from permuted data, with a Procrustes rotation applied to map each set of permuted LVs to the space defined by the originals, creating an “apples to apples” comparison. Yet, it has not been established whether applying the rotation makes the permutation test more sensitive to whether true LVs are present in a dataset, and it is unclear whether significance alone is sufficient to fully characterize a PLS decomposition, given that complementary metrics such as strength and split-half stability may offer non-redundant information about the LVs. Accordingly, we performed PLS analyses across a range of simulated datasets with known latent effects, observing that the Procrustes rotation systematically weakened the null distributions for the first LV. By extension, the first LV was nearly always significant, regardless of whether the effect was weak, undersampled, noisy, or simulated at all. But, if no rotation was applied, all possible LVs tended to be significant as we increased the sample size of UK Biobank datasets. Meanwhile, LV strength and stability metrics accurately tracked our confidence that effects were present in simulated data, and allowed for a more nuanced assessment of which LVs may be relevant in the UK Biobank. We end by presenting a list of considerations for researchers implementing PLS permutation testing, and by discussing promising alternative tests which may alleviate the concerns raised by our findings.
Have public universities in Germany become more isomorphic? Methodology and empirical test, 1995–2020
Authors: Heinze Thomas , Josek Rafael 
Published: December 2024

Abstract
Despite being a well-known concept in neo-institutional organization theory, isomorphism (or structural similarity) has been conceptualized and empirically examined by very few studies. This paper examines isomorphism quantitatively in German higher education, using the Relative Specialization Index. Drawing on a comprehensive data set that includes information on professorial staff and students, as well as basic and grant funding, our paper shows, first, that most variables show an isomorphic pattern, and second, that German universities have become more isomorphic over time. We discuss possible explanations of this result and avenues for future research.
Global mobility of the recent STEM postdoctoral workforce registered in ORCID
Authors: Kim Hyunuk 
Published: December 2024

Abstract
Postdoctoral researchers contribute to scientific, technological, and societal innovations under the supervision of academic faculty and domain experts. Their international movements facilitate the advancement and diffusion of knowledge and thus are important for research and development. To understand postdoctoral mobility at a global scale, this paper analyzes self-reported career trajectories of postdoctoral researchers by leveraging Open Researcher and Contributor ID (ORCID), focusing on five STEM fields: Biological Sciences, Biomedical and Clinical Sciences, Chemical Sciences, Engineering, and Physical Sciences. The United States and European countries are major destinations for the first postdoctoral position across the selected fields, and three Asian countries—China, Japan, and the Republic of Korea—also attract postdoctoral researchers in Chemical Sciences and Engineering. Gender differences are observed for some specific cases mainly due to the tendency that female postdoctoral researchers are more likely to stay in a single country or less likely to move to the United States for the second postdoctoral position compared to male postdoctoral researchers. The results would be leveraged to design science and technology policies for postdoctoral researchers in consideration of additional factors, such as culture and language.
The transformative relation between publishers and editors: Research quality and academic autonomy at stake
Authors: Beigel Fernanda 
Published: December 2024

Abstract
The prevalence of scientific journals amid the expansion of digital platforms and mega-infrastructures features the persistent will of scholars to give part of their time to this endeavor, which is frequently a thankless task and subject to intense pressures. In this paper, we focus on scholarly editorship and the existing commercial interferences to explore whether this has an equal incidence in publishing circuits outside the mainstream. For this purpose, we describe the case of Latin America, where a parallel value system is observed through indexation criteria focused on academic quality and independent editorship. We examined 1,971 SciELO and Redalyc journals, stressing the features of editorial teams and publishing institutions, and calibrating the penetration of the article processing charge (APC) business model. We argue that the development of this regional publishing circuit, along with the value system that explains its survival, finds its main strength in its public nature and the crucial role of universities’ autonomy. Its main weakness in the absence of an interoperable infrastructure capable of broadening its circulation. We also discuss the idea of predatory publishing and its evolution from the representation of journal backwardness to fraudulent for-profit publications, proposing to reorient the value of scientific journals onto their academic autonomy.
A framework for demonstrating, forecasting, and explaining topic evolution by analyzing geometrical motion of topic embeddings
Authors: Huang Shengzhi , Lu Wei , Cheng Qikai , Huang Yong , Yi Fan , Zhu Liang 
Published: December 2024

Abstract
Topic analysis aims to study topic evolution and trends in order to help researchers understand the process of knowledge evolution and creation. This paper develops a novel topic evolution analysis framework, which we use to demonstrate, forecast, and explain topic evolution from the perspective of the geometrical motion of topic embeddings generated by pretrained language models. Our data set comprises approximately 15 million papers in the computer science field, with 7,000 “fields of study” to represent the topics. First, we demonstrate that over 80% of topics have undergone obvious motion in the semantic vector space, based on the hyperplane and its normal vector generated by a support vector machine. Subsequently, we verified the predictability of the motion based on three vector regression models by predicting topic embeddings. Finally, we employed a decoder to explain the predicted motion, whose forecast embeddings can capture about 50% of unseen topics. Our research framework shows that topic evolution can be analyzed via the geometrical motion of topic embeddings, and the semantic motion of old topics nurtures new topics. The current study opens new research pathways in topic analysis and sheds light on the topic evolution mechanism from a novel geometric perspective.
Using Rubrics to Enhance Accuracy of Peer Assessment and Self-Judgment in Biology Learning
Authors: Fadillah Sarah Meilani , Ha Minsu 
Published: December 2024

Abstract
This study investigated the potential of rubrics to enhance science learning outcomes and the accuracy of peer and self-assessments. We randomly divided 230 upper-secondary students from nine classrooms in public schools into two groups: rubric and non-rubric groups. The research concentrated on five open-ended items pertaining to cell biology and applied a pretest-posttest design. The students participated in online peer assessment activities, including independently scoring and providing feedback for five unique responses per question. The findings revealed that both groups displayed (1) a notable correlation between peer and expert scores and (2) learning improvement, with the rubric group outperforming the non-rubric group in terms of effect size, and that (3) male students in the rubric group demonstrated a significant reduction in overconfidence, although the regression results suggested that gender did not influence the learning outcomes. This research supports the claim that rubrics can elevate formative assessment by enhancing learning outcomes and facilitating more reliable judgments.