bluuebunny/crossref_metadata_2025_split huggingface dataset:
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
Authors: Bonnet Céline , Pellerin David , Roth Virginie , Clément Guillemette , Wandzel Marion , Lambert Laëtitia , Frismand Solène , Douarinou Marian , Grosset Anais , Bekkour Ines , Weber Frédéric , Girardier Florent , Robin Clément , Cacciatore Stéphanie , Bronner Myriam , Pourié Carine , Dreumont Natacha , Puisieux Salomé , Iruzubieta Pablo , Dicaire Marie-Josée , Evoy François , Rioux Marie-France , Hocquel Armand , La Piana Roberta , Synofzik Matthis , Houlden Henry , Danzi Matt C. , Zuchner Stephan , Brais Bernard , Renaud Mathilde 
Published: June 2023

AbstractDominantly inherited GAA repeat expansions in FGF14 are a common cause of spinocerebellar ataxia (GAA-FGF14 ataxia; spinocerebellar ataxia 27B). Molecular confirmation of FGF14 GAA repeat expansions has thus far mostly relied on long-read sequencing, a technology that is not yet widely available in clinical laboratories. We developed and validated a strategy to detect FGF14 GAA repeat expansions using long-range PCR, bidirectional repeat-primed PCRs, and Sanger sequencing. We compared this strategy to targeted nanopore sequencing in a cohort of 22 French Canadian patients and next validated it in a cohort of 53 French index patients with unsolved ataxia. Method comparison showed that capillary electrophoresis of long-range PCR amplification products significantly underestimated expansion sizes compared to nanopore sequencing (slope, 0.87 [95% CI, 0.81 to 0.93]; intercept, 14.58 [95% CI, − 2.48 to 31.12]) and gel electrophoresis (slope, 0.84 [95% CI, 0.78 to 0.97]; intercept, 21.34 [95% CI, − 27.66 to 40.22]). The latter techniques yielded similar size estimates. Following calibration with internal controls, expansion size estimates were similar between capillary electrophoresis and nanopore sequencing (slope: 0.98 [95% CI, 0.92 to 1.04]; intercept: 10.62 [95% CI, − 7.49 to 27.71]), and gel electrophoresis (slope: 0.94 [95% CI, 0.88 to 1.09]; intercept: 18.81 [95% CI, − 41.93 to 39.15]). Diagnosis was accurately confirmed for all 22 French Canadian patients using this strategy. We also identified 9 French patients (9/53; 17%) and 2 of their relatives who carried an FGF14 (GAA)≥250 expansion. This novel strategy reliably detected and sized FGF14 GAA expansions, and compared favorably to long-read sequencing.
Vortex structure in Wigner molecules
Authors: Thakur Tanmay , Szafran Bartłomiej 
Published: June 2023

AbstractWe study clusters of vortices for Wigner molecules formed in the laboratory frame induced by anisotropy of the external potential or electron effective mass. For anisotropic systems the ground-state vortex structure undergoes a continuous evolution when the magnetic field is varied in contrast to isotropic systems where it changes rapidly at angular momentum transitions. In fractional quantum Hall conditions the additional vortices first appear on the edges of the confined system far from the axis of a linear Wigner molecule and then approach the electron positions in growing magnetic field. For an isotropic mass the vortices tend to stay at the line perpendicular to the Wigner molecule axis and pass to the axis for the lowest Landau level filling factor of $$\nu \simeq \frac{1}{5}$$

ν
≃

1
5

. In phosphorene the behaviour of the vortices is influenced by a strong anisotropy of the electron effective mass. The vortices are stabilized off the axis of the molecule when it is oriented along the armchair crystal direction. For the molecule oriented along the zigzag direction the vortices are transfered to the molecule axis already at $$\nu \simeq \frac{1}{3}$$

ν
≃

1
3

. The transfer is associated with an antivortex creation and annihilation near the electron position.
Changes in plasticity of the pelvic girdle from infancy to late adulthood in Homo sapiens
Authors: Kubicka Anna Maria 
Published: June 2023

AbstractPrevious research on the effects of body mass on the pelvic girdle focused mostly on adult females and males. Because the ontogenetic plasticity level in the pelvis remains largely unknown, this study investigated how the association between body mass index (BMI) and pelvic shape changes during development. It also assessed how the large variation in pelvic shape could be explained by the number of live births in females. Data included CT scans of 308 humans from infancy to late adulthood with known age, sex, body mass, body stature, and the number of live births (for adult females). 3D reconstruction and geometric morphometrics was used to analyze pelvic shape. Multivariate regression showed a significant association between BMI and pelvic shape in young females and old males. The association between the number of live births and pelvic shape in females was not significant. Less plasticity in pelvic shape in adult females than during puberty, perhaps reflects adaptation to support the abdominopelvic organs and the fetus during pregnancy. Non-significant susceptibility to BMI in young males may reflect bone maturation accelerated by excessive body mass. Hormonal secretion and biomechanical loading associated with pregnancy may not have a long-term effect on the pelvic morphology of females.
The longer-term impact of the COVID-19 pandemic on wellbeing and subjective cognitive functioning of older adults in Belgium
Authors: De Pue Sarah , Gillebert Céline , Dierckx Eva , Van den Bussche Eva 
Published: June 2023

AbstractIn earlier survey research, we observed a severe impact of the first peak of the COVID-19 pandemic on the subjective wellbeing, sleep and activity of adults aged 65 years or older in Flanders, Belgium. The impact on subjective cognitive functioning, however, was limited. Since then, periods of lockdown and periods with less strict regulations alternated, but social distancing remained, especially for older adults. To study the longer-term impact of the pandemic on wellbeing and subjective cognitive functioning, we re-assessed the older adults from the first measurement moment (May–June 2020) in a second (June–July 2020) and third (December 2020) wave of the survey (n = 371, M = 72 years old, range 65–97 years old). Results indicated that wellbeing fluctuated with the severity of the pandemic. Results for self-reported cognitive functioning were mixed. While participants indicated a slightly better general subjective cognitive functioning at the end of the study, experienced problems with most cognitive subdomains significantly increased over time. The presence of depressive and anxiety symptoms were related to the longer-term impact of the pandemic on wellbeing and subjective cognitive functioning. Our study shows the long-lasting impact of the pandemic on the wellbeing and subjective cognitive functioning of older adults, without full recovery from the first wave.
Landscape-level variability and insect herbivore outbreak captured within modern forests provides a framework for interpreting the fossil record
Authors: Azevedo-Schmidt Lauren , Swain Anshuman , Shoemaker Lauren G. , Currano Ellen D. 
Published: June 2023

AbstractTemporal patterns of plant–insect interactions are readily observed within fossil datasets but spatial variability is harder to disentangle without comparable modern methods due to limitations in preservation. This is problematic as spatial variability influences community structure and interactions. To address this we replicated paleobotanical methods within three modern forests, creating an analogous dataset that rigorously tested inter- and intra-forest plant–insect variability. Random mixed effects models, non-metric multidimensional scaling (NMDS) ordinations, and bipartite network- and node-level metrics were used. Total damage frequency and diversity did not differ across forests but differences in functional feeding groups (FFGs) were observed across forests, correlating with plant diversity, evenness, and latitude. Overall, we found higher generalized herbivory within the temperate forests than the wet-tropical, a finding also supported by co-occurrence and network analyses at multiple spatial scales. Intra-forest analyses captured consistent damage type communities, supporting paleobotanical efforts. Bipartite networks captured the feeding outbreak of Lymantria dispar caterpillars; an exciting result as insect outbreaks have long been unidentifiable within fossil datasets. These results support paleobotanical assumptions about fossil insect herbivore communities, provide a comparative framework between paleobotanical and modern communities, and suggest a new analytical framework for targeting modern and fossil outbreaks of insect feeding.
Spectrochemical analysis of blood combined with chemometric techniques for detecting osteosarcopenia
Authors: da Silva Tales Gomes , Morais Camilo L. M. , Santos Marfran C. D. , de Lima Leomir A. S. , de Medeiros Freitas Raysa Vanessa , Guerra Ricardo Oliveira , Lima Kássio M. G. 
Published: June 2023

AbstractAmong several complications related to physiotherapy, osteosarcopenia is one of the most frequent in elderly patients. This condition is limiting and quite harmful to the patient’s health by disabling several basic musculoskeletal activities. Currently, the test to identify this health condition is complex. In this study, we use mid-infrared spectroscopy combined with chemometric techniques to identify osteosarcopenia based on blood serum samples. The purpose of this study was to evaluate the mid-infrared spectroscopy power to detect osteosarcopenia in community-dwelling older women (n = 62, 30 from patients with osteosarcopenia and 32 healthy controls). Feature reduction and selection techniques were employed in conjunction with discriminant analysis, where a principal component analysis with support vector machines (PCA–SVM) model achieved 89% accuracy to distinguish the samples from patients with osteosarcopenia. This study shows the potential of using infrared spectroscopy of blood samples to identify osteosarcopenia in a simple, fast and objective way.
Fast and accurate object detector for autonomous driving based on improved YOLOv5
Authors: Jia Xiang , Tong Ying , Qiao Hongming , Li Man , Tong Jiangang , Liang Baoling 
Published: June 2023

AbstractAutonomous driving is an important branch of artificial intelligence, and real-time and accurate object detection is key to ensuring the safe and stable operation of autonomous vehicles. To this end, this paper proposes a fast and accurate object detector for autonomous driving based on improved YOLOv5. First, the YOLOv5 algorithm is improved by using structural re-parameterization (Rep), enhancing the accuracy and speed of the model through training-inference decoupling. Additionally, the neural architecture search method is introduced to cut redundant branches in the multi-branch re-parameterization module during the training phase, which ameliorates the training efficiency and accuracy. Finally, a small object detection layer is added to the network and the coordinate attention mechanism is added to all detection layers to improve the recognition rate of the model for small vehicles and pedestrians. The experimental results show that the detection accuracy of the proposed method on the KITTI dataset reaches 96.1%, and the FPS reaches 202, which is superior to many current mainstream algorithms and effectively improves the accuracy and real-time performance of unmanned driving object detection.
Ectopic ATP synthase stimulates the secretion of extracellular vesicles in cancer cells
Authors: Kao Yi-Chun , Chang Yi-Wen , Lai Charles P. , Chang Nai-Wen , Huang Chen-Hao , Chen Chien-Sheng , Huang Hsuan-Cheng , Juan Hsueh-Fen 
Published: June 2023

AbstarctEctopic ATP synthase on the plasma membrane (eATP synthase) has been found in various cancer types and is a potential target for cancer therapy. However, whether it provides a functional role in tumor progression remains unclear. Here, quantitative proteomics reveals that cancer cells under starvation stress express higher eATP synthase and enhance the production of extracellular vesicles (EVs), which are vital regulators within the tumor microenvironment. Further results show that eATP synthase generates extracellular ATP to stimulate EV secretion by enhancing P2X7 receptor–triggered Ca2+ influx. Surprisingly, eATP synthase is also located on the surface of tumor-secreted EVs. The EVs-surface eATP synthase increases the uptake of tumor-secreted EVs in Jurkat T-cells via association with Fyn, a plasma membrane protein found in immune cells. The eATP synthase-coated EVs uptake subsequently represses the proliferation and cytokine secretion of Jurkat T-cells. This study clarifies the role of eATP synthase on EV secretion and its influence on immune cells.
Mass transport and charge transfer through an electrified interface between metallic lithium and solid-state electrolytes
Authors: Katzenmeier Leon , Gößwein Manuel , Carstensen Leif , Sterzinger Johannes , Ederer Michael , Müller-Buschbaum Peter , Gagliardi Alessio , Bandarenka Aliaksandr S. 
Published: June 2023

AbstractAll-solid-state Li-ion batteries are one of the most promising energy storage devices for future automotive applications as high energy density metallic Li anodes can be safely used. However, introducing solid-state electrolytes needs a better understanding of the forming electrified electrode/electrolyte interface to facilitate the charge and mass transport through it and design ever-high-performance batteries. This study investigates the interface between metallic lithium and solid-state electrolytes. Using spectroscopic ellipsometry, we detected the formation of the space charge depletion layers even in the presence of metallic Li. That is counterintuitive and has been a subject of intense debate in recent years. Using impedance measurements, we obtain key parameters characterizing these layers and, with the help of kinetic Monte Carlo simulations, construct a comprehensive model of the systems to gain insights into the mass transport and the underlying mechanisms of charge accumulation, which is crucial for developing high-performance solid-state batteries.
Explicit and tacit knowledge have diverging urban growth patterns
Authors: Li Linzhuo , Zhao Nannan 
Published: June 2023

AbstractThis article utilizes an online job recruitment dataset of more than 4.6 million jobs in China to examine the urban scaling patterns of explicit and tacit knowledge. Knowledge complexity is considered essential for economic development and innovation, and recent studies find complex economic activities of many fields concentrate more in large cities. However, it remains unclear whether the urban concentration tendency would differ by explicit and tacit knowledge, given the latter is often argued as the hard core knowledge more difficult to transfer. We measure explicit/tacit knowledge in job descriptions regarding education/experience requirements. Our analysis reveals that knowledge of different natures differs to a great extent in their property of urban concentration. Specifically, jobs requiring greater explicit knowledge show higher urban scaling rates. This, however, is not true for tacit knowledge, as it demonstrates the exact opposite pattern. Our findings suggest that while cities are centers of knowledge and innovation, the engines of continued growth tend to become more biased towards explicit rather than know-how knowledge.
Degradation of floodplain integrity within the contiguous United States
Authors: Morrison Ryan R. , Simonson Kira , McManamay Ryan A. , Carver Dan 
Published: June 2023

AbstractDespite the numerous hydrological, geological, and ecological benefits produced by floodplain landscapes, floodplains continue to be degraded by human activities at a much higher rate than other landscape types. This large-scale landscape modification has been widely recognized, yet a comprehensive, national dataset quantifying the degree to which human activities are responsible for this degradation has not previously been evaluated. In this research, we analyze floodplain integrity for the contiguous United States by spatially quantifying the impact of anthropogenic stressors on almost 80,000 floodplain units. We demonstrate the prevalence of human modifications through widely available geospatial datasets, which we use to quantify indicators of floodplain integrity for five essential floodplain functions of flood attenuation, groundwater storage, habitat provision, sediment regulation, and organics and solute regulation. Our results show that floodplain degradation is spatially heterogeneous and that the integrity of nearly 70% of floodplains in the United States is poor. We highlight that quantifying the integrity of spatially explicit floodplain elements can allow for restoration efforts to be targeted to the areas in most desperate need of preservation.
Neoproterozoic reorganization of the Circum- Mozambique orogens and growth of megacontinent Gondwana
Authors: Wang Chao , Jing Xian-qing , Meert Joseph G. 
Published: June 2023

AbstractThe serpentine orogenic belts that formed during the Neoproterozoic assembly of Gondwana resulted in geodynamic changes on the planet in advance of the Cambrian radiation. The details of Gondwana assembly associated with the closure of the Mozambique Ocean are enigmatic. We compile published geological and paleomagnetic data to argue that the Tarim block was associated with the Azania and Afif–Abas–Lhasa terranes and they were the locus of long-lived Andean-type subduction during the ~900–650 Ma interval. Our model suggests a subduction system reorganization between 750-720 Ma, which resulted in two distinct phases of Mozambique ocean evolution. Between 870-750 Ma, a N-S oriented subduction system marks the locus of ocean crust consumption driven by the extension of the Mozambique Ocean. Beginning ~720 Ma, a newly developed ~E-W oriented subduction system began to consume the Mozambique Ocean and led to the assembly of eastern Gondwana. Our new reconstruction uses true polar wander to constrain the relative paleolongitude of Tarim, South China and West Africa. In this scenario, the closure of the Mozambique Ocean and formation of Gondwana was orthogonal to the preceding supercontinent Rodinia.
The classification method based on evolutionary algorithm for high‐dimensional imbalanced missing data
Authors: Liu Yi , Li Gengsong , Li Xiang , Qin Wei , Zheng Qibin , Ren Xiaoguang 
Published: June 2023

AbstractHigh dimensional imbalanced missing data classification is a challenging and complex problem that traditional algorithms struggle to solve effectively. To address this issue, a novel method is proposed, named the hybrid classification approach based on particle swarm optimization (HCPSO). HCPSO integrates ideas of feature selection, resampling and imputation, and breaks particles down into three parts. These parts represent the feature values, probabilities of resampling, and probabilities of imputation approaches, respectively. Moreover, HCPSO employs particle swarm optimization to optimize these parameters simultaneously to take advantage of these methods. Six types of algorithms, eleven datasets, and four performance indicators are used to evaluate our method. The results demonstrate a significant improvement in HCPSO's performance, with an average improvement of 13.02%, 18.95%, 20.25%, and 28.63% for accuracy, F1, AUC, and Gmean, respectively, compared to all other methods. Furthermore, the experiments also demonstrate the robustness of HCPSO.
Traveling kink oscillations of coronal loops launched by a solar flare
Authors: Li Dong , Bai Xianyong , Tian Hui , Su Jiangtao , Hou Zhenyong , Deng Yuanyong , Ji Kaifan , Ning Zongjun 
Published: June 2023

Context. Kink oscillations, which are often associated with magnetohydrodynamic waves, are usually identified as transverse displacement oscillations of loop-like structures. However, the traveling kink oscillation evolving to a standing wave has rarely been reported.
Aims. We investigate the traveling kink oscillation triggered by a solar flare on 2022 September 29. The traveling kink wave is then evolved to a standing kink oscillation of the coronal loop.
Methods. The observational data mainly come from the Solar Upper Transition Region Imager (SUTRI), Atmospheric Imaging Assembly (AIA), and Spectrometer/Telescope for Imaging X-rays (STIX). In order to accurately identify the diffuse coronal loops, we applied a multi-Gaussian normalization (MGN) image processing technique to the extreme ultraviolet (EUV) image sequences at SUTRI 465 Å, AIA 171 Å, and 193 Å. A sine function within the decaying term and linear trend is used to extract the oscillation periods and amplitudes. With the aid of a differential emission measure analysis, the coronal seismology is applied to diagnose key parameters of the oscillating loop. At last, the wavelet transform is used to seek for multiple harmonics of the kink wave.
Results. The transverse oscillations with an apparent decay in amplitude and nearly perpendicular to the oscillating loop are observed in the passbands of SUTRI 465 Å, AIA 171 Å, and 193 Å. The decaying oscillation is launched by a solar flare erupted close to one footpoint of coronal loops and then it propagates along several loops. Next, the traveling kink wave is evolved to a standing kink oscillation. The standing kink oscillation along one coronal loop has a similar period of ∼6.3 min at multiple wavelengths, and the decaying time is estimated at ∼9.6−10.6 min. Finally, two dominant periods of 5.1 min and 2.0 min are detected in another oscillating loop, suggesting the coexistence of the fundamental and third harmonics.
Conclusions. First, we report the evolution of a traveling kink pulse to a standing kink wave along coronal loops that has been induced by a solar flare. We also detected a third-harmonic kink wave in an oscillating loop.
Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations
Authors: Chen Yuan , Zhang Ke , Jin Yanhui , Zeng Manlin , Jia Kaiqi , Yang Lihong , Wang Mingshan 
Published: June 2023

Abstract
Objective This study aims to provide a preliminary discussion of the molecular basis of FV deficiency caused by compound heterozygous mutations in two Chinese families.
Methods Relative coagulation index was measured by the one-stage clotting method and the FV:Ag was measured by ELISA. All exons and flanking regions of the F5 gene were amplified by PCR and directly sequenced. ClustalX-2.1-win was used to analyze the conservation of mutations. The online software was used to predict the pathogenicity of mutations. PyMOL was used to analyze the variation in the spatial structure of the FV protein before and after mutations. Calibrated automated thrombogram was used to analyze the function of the mutant protein.
Results Phenotyping suggested that both probands had a simultaneous decrease in FV:C and FV:Ag. Their genetic tests showed that proband A had a missense mutation p.Ser111Ile in exon 3 and a polymorphism p.Arg2222Gly in exon 25. At the same time, the proband B had a missense mutation p.Asp96His in exon 3 and a frame-shift mutation p.Pro798Leufs*13 in exon 13. Meanwhile, the p.Ser111Ile is conserved among homologous species. The bioinformatics and protein model analysis revealed that p.Ser111Ile and p.Pro798Leufs*13 were pathogenic and could affect the structure of the FV protein. The thrombin generation test revealed that the clotting function of proband A and B had been affected.
Conclusion These four mutations may be responsible for the reduction of FV levels in two Chinese families. Moreover, the p.Ser111Ile mutation is a novel pathogenic variant that has not been reported.