bluuebunny/crossref_metadata_2025_split huggingface dataset:
Progressive cardiomyopathy with intercalated disc disorganization in a rat model of Becker dystrophy
Authors: Taglietti Valentina , Kefi Kaouthar , Mirciloglu Busra , Bastu Sultan , Masson Jean-Daniel , Bronisz-Budzyńska Iwona , Gouni Vassiliki , Ferri Carlotta , Jorge Alan , Gentil Christel , Pietri-Rouxel France , Malfatti Edoardo , Lafuste Peggy , Tiret Laurent , Relaix Frederic 
Published: October 2024

AbstractBecker muscular dystrophy (BMD) is an X-linked disorder due to in-frame mutations in the DMD gene, leading to a less abundant and truncated dystrophin. BMD is less common and severe than Duchenne muscular dystrophy (DMD) as well as less investigated. To accelerate the search for innovative treatments, we developed a rat model of BMD by deleting the exons 45–47 of the Dmd gene. Here, we report a functional and histopathological evaluation of these rats during their first year of life, compared to DMD and control littermates. BMD rats exhibit moderate damage to locomotor and diaphragmatic muscles but suffer from a progressive cardiomyopathy. Single nuclei RNA-seq analysis of cardiac samples revealed shared transcriptomic abnormalities in BMD and DMD rats and highlighted an altered end-addressing of TMEM65 and Connexin-43 at the intercalated disc, along with electrocardiographic abnormalities. Our study documents the natural history of a translational preclinical model of BMD and reports a cellular mechanism for the cardiac dysfunction in BMD and DMD offering opportunities to further investigate the organization role of dystrophin in intercellular communication.
Jag1 insufficiency alters liver fibrosis via T cell and hepatocyte differentiation defects
Authors: Mašek Jan , Filipovic Iva , Van Hul Noémi , Belicová Lenka , Jiroušková Markéta , Oliveira Daniel V , Frontino Anna Maria , Hankeova Simona , He Jingyan , Turetti Fabio , Iqbal Afshan , Červenka Igor , Sarnová Lenka , Verboven Elisabeth , Brabec Tomáš , Björkström Niklas K , Gregor Martin , Dobeš Jan , Andersson Emma R 
Published: October 2024

AbstractFibrosis contributes to tissue repair, but excessive fibrosis disrupts organ function. Alagille syndrome (ALGS, caused by mutations in JAGGED1) results in liver disease and characteristic fibrosis. Here, we show that Jag1Ndr/Ndr mice, a model for ALGS, recapitulate ALGS-like fibrosis. Single-cell RNA-seq and multi-color flow cytometry of the liver revealed immature hepatocytes and paradoxically low intrahepatic T cell infiltration despite cholestasis in Jag1Ndr/Ndr mice. Thymic and splenic regulatory T cells (Tregs) were enriched and Jag1Ndr/Ndr lymphocyte immune and fibrotic capacity was tested with adoptive transfer into Rag1−/− mice, challenged with dextran sulfate sodium (DSS) or bile duct ligation (BDL). Transplanted Jag1Ndr/Ndr lymphocytes were less inflammatory with fewer activated T cells than Jag1+/+ lymphocytes in response to DSS. Cholestasis induced by BDL in Rag1−/− mice with Jag1Ndr/Ndr lymphocytes resulted in periportal Treg accumulation and three-fold less periportal fibrosis than in Rag1−/− mice with Jag1+/+ lymphocytes. Finally, the Jag1Ndr/Ndr hepatocyte expression profile and Treg overrepresentation were corroborated in patients’ liver samples. Jag1-dependent hepatic and immune defects thus interact to determine the fibrotic process in ALGS.
Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47
Authors: Wiseman Jessica P , Scarrott Joseph M , Alves-Cruzeiro João , Saffari Afshin , Böger Cedric , Karyka Evangelia , Dawes Emily , Davies Alexandra K , Marchi Paolo M , Graves Emily , Fernandes Fiona , Yang Zih-Liang , Coldicott Ian , Hirst Jennifer , Webster Christopher P , Highley J Robin , Hackett Neil , Angyal Adrienn , Silva Thushan de , Higginbottom Adrian , Shaw Pamela J , Ferraiuolo Laura , Ebrahimi-Fakhari Darius , Azzouz Mimoun 
Published: October 2024

AbstractSpastic paraplegia 47 (SPG47) is a neurological disorder caused by mutations in the adaptor protein complex 4 β1 subunit (AP4B1) gene leading to AP-4 complex deficiency. SPG47 is characterised by progressive spastic paraplegia, global developmental delay, intellectual disability and epilepsy. Gene therapy aimed at restoring functional AP4B1 protein levels is a rational therapeutic strategy to ameliorate the disease phenotype. Here we report that a single delivery of adeno-associated virus serotype 9 expressing hAP4B1 (AAV9/hAP4B1) into the cisterna magna leads to widespread gene transfer and restoration of various hallmarks of disease, including AP-4 cargo (ATG9A) mislocalisation, calbindin-positive spheroids in the deep cerebellar nuclei, anatomical brain defects and motor dysfunction, in an SPG47 mouse model. Furthermore, AAV9/hAP4B1-based gene therapy demonstrated a restoration of plasma neurofilament light (NfL) levels of treated mice. Encouraged by these preclinical proof-of-concept data, we conducted IND-enabling studies, including immunogenicity and GLP non-human primate (NHP) toxicology studies. Importantly, NHP safety and biodistribution study revealed no significant adverse events associated with the therapeutic intervention. These findings provide evidence of both therapeutic efficacy and safety, establishing a robust basis for the pursuit of an IND application for clinical trials targeting SPG47 patients.
Ground fault protection algorithm of active distribution network based on energy extremum direction
Authors: Jun Li , Min He , Shoudao Huang , Xuan Wu , lv Fan , Yong Liu Zhi 
Published: October 2024

AbstractAfter large‐scale distributed power sources are connected to the distribution network, the fault current undergoes noticeable changes, affecting the accuracy of traditional single‐phase grounding fault algorithms. Therefore, the objective of this paper is to address the impact of distributed power integration on the grounding algorithms of distribution networks. The main contribution is: by establishing an electrical system structure and model for distribution network grounding faults that include distributed generation (DG), theoretically deriving and calculating the transient zero‐sequence current frequency changes at the moment of fault, analysing the directional characteristics of zero‐sequence currents under DG connection conditions, designing a local grounding fault judgment algorithm based on energy extremum direction, and providing a fault judgment and isolation process for grounding fault monitoring devices. The results show: through simulation and experimentation, the algorithm was tested, and the method can reliably judge grounding faults under various transition resistances, different numbers and capacities of connected distributed power sources, and different grounding switch‐on angles. The applicability of the algorithm covers both methods of neutral grounding through an arc suppression coil and ungrounded neutrals, adapting to scenarios with or without DG connections.
Super‐resolution reconstruction algorithm for medical images by fusion of wavelet transform and multi‐scale adaptive feature selection
Authors: Wang QiaoSu , Ma Qiaomei 
Published: October 2024

AbstractConventional computed tomography (CT) images often suffer from blurred edges and unclear details. Image super‐resolution methods can significantly enhance CT image quality, thereby improving diagnostic accuracy. To better extract detailed features and enhance the cascading effects of different feature levels, we propose a novel medical image super‐resolution algorithm that integrates discrete wavelet transform and multi‐scale adaptive feature selection. Our approach uses both the low‐resolution image and its high‐frequency component from the frequency domain as network inputs, with the high‐frequency component providing learning supervision, which enhances detail fidelity in reconstruction. Additionally, we introduce a multi‐scale adaptive feature selection module to learn from different layers of CT images and their inter‐layer correlations. Finally, the pixel information is efficiently integrated by a coordinate attention mechanism incorporating the concept of squeeze excitation. Experimental results show that our method outperforms state‐of‐the‐art methods, achieving superior reconstruction at scale factors of 2, 4, and 8, especially at scale factor 8, where it surpasses others by 1.12 in PSNR, 0.0145 in SSIM, and 0.0038 in LPIPS. Visually, our method also delivers more accurate details and better perceptual quality.
Physical properties of trans-Neptunian object (143707) 2003 UY117 derived from stellar occultation and photometric observations
Authors: Kretlow M. , Ortiz J. L. , Desmars J. , Morales N. , Rommel F. L. , Santos-Sanz P. , Vara-Lubiano M. , Fernández-Valenzuela E. , Alvarez-Candal A. , Duffard R. , Braga-Ribas F. , Sicardy B. , Castro-Tirado A. , Fernández-García E. J. , Sánchez M. , Sota A. , Assafin M. , Benedetti-Rossi G. , Boufleur R. , Camargo J. I. B. , Cikota S. , Gomes-Junior A. , Gómez-Limón J. M. , Kilic Y. , Lecacheux J. , Leiva R. , Marques-Oliveira J. , Morales R. , Morgado B. , Rizos J. L. , Roques F. , Souami D. , Vieira-Martins R. , Alarcon M. R. , Boninsegna R. , Çakır O. , Casarramona F. , Castellani J. J. , de la Cueva I. , Fişek S. , Guijarro A. , Haymes T. , Jehin E. , Kidd S. , Licandro J. , Maestre J. L. , Murgas F. , Pallé E. , Popescu M. , Pratt A. , Serra-Ricart M. , Talbot J. C. 
Published: October 2024

Context. Trans-Neptunian objects (TNOs) are considered to be among the most primitive objects in our Solar System. Knowledge of their primary physical properties is essential for understanding their origin and the evolution of the outer Solar System. In this context, stellar occultations are a powerful and sensitive technique for studying these distant and faint objects.
Aims. We aim to obtain the size, shape, absolute magnitude, and geometric albedo for TNO (143707) 2003 UY117.
Methods. We predicted a stellar occultation by this TNO for 2020 October 23 UT and ran a specific campaign to investigate this event. We derived the projected profile shape and size from the occultation observations by means of an elliptical fit to the occultation chords. We also performed photometric observations of (143707) 2003 UY117 to obtain the absolute magnitude and the rotational period from the observed rotational light curve. Finally, we combined these results to derive the three-dimensional shape, volume-equivalent diameter, and geometric albedo for this TNO.
Results. From the stellar occultation, we obtained a projected ellipse with axes of (282 ± 18) × (184 ± 32) km. The area-equivalent diameter for this ellipse is Deq,A = 228 ± 21 km. From our photometric R band observations, we derived an absolute magnitude of HV = 5.97 ± 0.07 mag using V − R = 0.46 ± 0.07 mag, which was derived from a V band subset of these data. The rotational light curve has a peak-to-valley amplitude of ∆m = 0.36 ± 0.13 mag. We find the most likely rotation period to be P = 12.376 ± 0.0033 hours. By combining the occultation with the rotational light curve results and assuming a triaxial ellipsoid, we derived axes of a × b × c = (332 ± 24) km × (216 ± 24) km × (180−24+28) km for this ellipsoid, and therefore a volume-equivalent diameter of Deq,V = 235 ± 25 km. Finally, the values for the absolute magnitude and for the area-equivalent diameter yield a geometric albedo of pV = 0.139 ± 0.027.
Blue large-amplitude pulsators formed from the merger of low-mass white dwarfs
Authors: Kołaczek-Szymański Piotr A. , Pigulski Andrzej , Łojko Piotr 
Published: October 2024

Context. Blue large-amplitude pulsators (BLAPs) are a recently discovered group of hot stars pulsating in radial modes. Their origin needs to be explained, and several scenarios for their formation have already been proposed.
Aims. We investigate whether BLAPs can originate as the product of a merger of two low-mass white dwarfs (WDs) and estimate how many BLAPs can be formed in this evolutionary channel.
Methods. We used the Modules for Experiments in Stellar Astrophysics (MESA) code to model the merger of three different double extremely low-mass (DELM) WDs and the subsequent evolution of the merger product. We also performed a population synthesis of Galactic DELM WDs using the COSMIC code.
Results. We find that BLAPs can be formed from DELM WDs provided that the total mass of the system ranges between 0.32 and 0.7 M⊙. BLAPs born in this scenario either do not have any thermonuclear fusion at all or show off-centre He burning. The final product evolves to hot subdwarfs and eventually finishes its evolution either as a cooling He WD or a hybrid He/CO WD. The merger products become BLAPs only a few thousand years after coalescence, and it takes them 20–70 thousand years to pass the BLAP region. We found the instability of the fundamental radial mode to be in fair agreement with observations, but we also observed instability of the radial first overtone. The calculated evolutionary rates of period change can be both positive and negative. From the population synthesis, we found that up to a few hundred BLAPs born in this scenario can exist at present in the Galaxy.
Conclusions. Given the estimated number of BLAPs formed in the studied DELM WD merger scenario, there is a good chance to observe BLAPs that originated through this scenario. Since strong magnetic fields can be generated during mergers, this scenario could lead to the formation of magnetic BLAPs. This fits well with the discovery of two likely magnetic BLAPs whose pulsations can be explained in terms of the oblique rotator model.
Multiwavelength Galactic center gamma-ray observations explained by a unified cosmic-ray dynamics model
Authors: Scherer Andrés , Cuadra Jorge 
Published: October 2024

Context. High-energy (HE) and very high-energy (VHE) gamma-ray observations from the Galactic center (GC) detected extended emission correlated with the morphology of the central molecular zone (CMZ). Emission in both bands is expected to be produced by hadronic interaction between cosmic rays (CRs) and ambient gas.
Aims. We examine if our three previously proposed scenarios for the CR sources and dynamics, which are consistent with the VHE gamma-ray data (1–100 TeV), also match the HE gamma-ray observations (10–300 GeV). Additionally, we analyze the effect of the isotropic Galactic CR “sea” inside the CMZ.
Methods. We generated synthetic gamma-ray maps considering a simplified isotropic diffusion, but more realistic dynamics with two diffusion zones (in and out of the CMZ) and polar advection, for mono-energetic particles of 3 TeV. Additionally, we considered two gas distributions for the CMZ (with and without an inner cavity), and CR populations injected from the clusters of young massive stars (the Arches Cluster, the Quintuplet Cluster, and the nuclear star cluster), plus the supernova Sgr A East.
Results. Only the combination of more realistic CR dynamics, the CMZ with an inner cavity, CR injection from all proposed sources, and a CR sea similar to that observed in the Solar System reproduced the current HE and VHE gamma-ray detection from the CMZ and was consistent with the observed gamma-rays from Sagittarius A*.
Conclusions. The HE and VHE gamma-rays observations of the GC can be reproduced by a unified model for the CRs.
Characterization and Potential Relevance of Randomized Controlled Trial Patient Populations in Revision Total Joint Arthroplasty: A Systematic Review
Authors: Yu Jonathan S. , Tripathi Vidushi , Magahis Patrick , Ast Michael , Sculco Peter , Premkumar Ajay 
Published: October 2024

AbstractRandomized controlled trial (RCT) studies in revision total joint arthroplasty (rTJA) are essential to investigate the effectiveness of interventions. However, there has been limited research investigating how patient cohorts comprising rTJA RCT samples resemble the U.S. patient population undergoing rTJA in terms of demographic and clinical characteristics. Thus, the purpose of this systematic review was to compare the patient characteristics of rTJA RCT cohorts with the characteristics of national patient database cohorts. RCT studies for rTJA were aggregated. Patient demographics in this group were compared against Healthcare Cost and Utilization Project-National Inpatient Sample (NIS) and American College of Surgeons-National Surgical Quality Improvement Program (ACS-NSQIP) patient cohorts. Forty-six RCTs met inclusion criteria. There were 3,780 total patients across 46 RCTs. The average age of patients in the rTJA RCT cohort was 66.4 ± 9.4 while in the NIS cohort was 67.3 ± 11.1 (d = 0.08, effect size = small). The average body mass index (BMI) of the rTJA RCT cohort was 31.1 ± 5.7 while the NSQIP cohort was 31.7 ± 8.3 (d = 0.08, effect size = small). For rTJA, effect sizes for age, BMI, sex, ethnicity, smoking, and diabetes were all small or very small.Overall, the rTJA RCT patient cohort does not differ significantly compared with the general patient population undergoing rTJA. Differences in demographic and clinical characteristics between the rTJA RCT cohort and database cohorts were minimal to small, indicating that these differences are unlikely to impact clinical outcomes.
Psychophysiological markers of athlete burnout: a call to
arms
Authors: Moore Lee , Isoard-Gautheur Sandrine , Gustafsson Henrik 
Published: October 2024

AbstractBurnout is a growing problem in high-performance sport and has negative
consequences for athletes (e.g., mental ill-health). It is therefore important
to effectively monitor athlete burnout to aid intervention efforts. While
self-report measures are available (e.g., athlete burnout questionnaire), the
limitations associated with these measures (e.g., social desirability bias)
means that objective physiological markers may also be useful. Thus, this
article critically discusses potential biomarkers of athlete burnout, drawing on
research inside and outside of sport to offer an overview of the current
state-of-the-art in this research area. First, it outlines what athlete burnout
is, its deleterious consequences, and discusses existing psychological
assessments. The article then critically discusses literature on
hypothalamic-pituitary-adrenal axis (e.g., salivary cortisol) and autonomic
nervous system (e.g., heart rate variability) indices of burnout, highlighting
some promising biomarkers for future research (e.g., salivary cortisol at
bedtime, vagally-mediated heart rate variability at rest). Finally, the article
concludes by highlighting key considerations and offering recommendations for
future research (e.g., use of more homogenous methods in assessing burnout and
physiological parameters). As a result, the intention of this article is to
spark more higher quality research on the psychophysiology of athlete burnout,
thereby helping tackle this prominent issue in high-performance sport.
Attention-deficit/hyperactivity disorder (ADHD) in adults: a multilayered approach to a serious disorder of inattention to the future
Authors: Palmini André 
Published: October 2024

AbstractAttention-deficit/hyperactivity disorder (ADHD) affects people of all ages, yet its presentation varies as the person matures and social demands increase from childhood into adulthood. Interestingly, when analyzing the disorder in adults, it is not immediately clear what the ‘attention deficit’ in the ADHD denomination exactly means. Adults with ADHD have a broad range of difficulties, far beyond an attentional deficit, that impact negatively their social functioning and often lead to failures in all walks of life. Therefore, in this review, I attempt to reconcile the notion of attention deficit with the protean manifestations of ADHD in adults through a proposal that ADHD symptoms have as a common denominator an inattention to the future. I build this construct through a multilayered approach, progressing from the epidemiological and clinical considerations for Diagnostic and Statistical Manual of Mental Disorders (DSM) diagnosis, to a deeper understanding of the disorder, discussing how these patients fail to anchor the present into the future (i.e., to be attentive to future consequences), thus failing to approximate future goals from present action. Integrating cognitive observations with imaging abnormalities, it is possible to propose that ADHD in adults is perhaps the most prevalent frontal lobe disorder in humans, ultimately impacting upon psychosocial management and treatment strategies.
Absolute beta power in exercisers and nonexercisers in preparation for the oddball task
Authors: Machado Marcos , Fonseca Renato , Zanchetta Giovanna , Amoroso Carlos , Vasconcelos Alexandre , Costa Élida , Nicoliche Eduardo , Gongora Mariana , Orsini Marco , Vicente Renan , Teixeira Silmar , Budde Henning , Cagy Mauricio , Velasques Bruna , Ribeiro Pedro 
Published: October 2024

Abstract
Background High levels of physical conditioning are associated with improvements in cognitive performance. In this sense, electroencephalographic (ECG) correlates are used to investigate the enhancing role of physical exercise on executive functions. Oscillations in the β frequency range are proposed to be evident during sensorimotor activity.
Objective To investigate the ECG changes influenced by aerobic and resistance exercises performed in an attention task by analyzing the differences in absolute β power in the prefrontal and frontal regions before, during, and after the oddball paradigm in practitioners and nonpractitioners of physical exercise.
Methods There were 15 physical activity practitioners (aged 27 ± 4.71) and 15 nonpractitioners (age 28 ± 1.50) recruited. A two-way analysis of variance (ANOVA) was implemented to observe the main effect and the interaction between groups and moments (rest 1, pre-stimulus, and rest 2).
Results An interaction between group and moment factors was observed for Fp1 (p < 0.001); Fp2 (p = 0.001); F7 (p < 0.001); F8 (p < 0.001); F3 (p < 0.001); Fz (p < 0.001); and F4 (p < 0.001). Electrophysiological findings clarified exercisers' specificity and neural efficiency in each prefrontal and frontal subarea.
Conclusion Our findings lend support to the current understanding of the cognitive processes underlying physical exercise and provide new evidence on the relationship between exercise and cortical activity.
Alternative finance in the international business context: a review and future research
Authors: Allen Franklin , Qian Meijun 
Published: October 2024

Abstract
Firms increasingly rely on alternative finance (AF) in addition to banks and equity markets, and its usage across countries differs significantly. We conceptualize AF as financing that operates within social, business, and virtual networks that generate informational, collateral, and incentive advantages compared to finance relying on traditional financial intermediaries. Examples of AF include family loans, microfinance, trade credit, community credit cooperatives, person-to-person (P2P), and crowdfunding. While AF is not a new phenomenon, technological development continues to facilitate its increasing prominence. We review the evolution of AF theories, summarize key empirical findings, and describe how AF intersects with international business (IB) research. Specifically, we review how AF feeds into the analysis of comparative financial systems, financial development, comparative corporate governance, and national culture. We conclude that AF has shaped comparative research in IB in important ways, but cross-border research in IB has hardly considered the role of AF. Globalization and technological development and adoption in the financial industry generate rich fields where AF and IB intersect; these have yet to be understood. We describe how IB research, specifically addressing the cross-border dimension, could benefit from integrating insights from AF research, and propose approaches to integrate theories on AF, IB, and internationalization.