bluuebunny/crossref_metadata_2025_split huggingface dataset:
Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease
Authors: Elmubarak Izzeldin , Shril Shirlee , Mansour Bshara , Bao Aaron , Kolvenbach Caroline , Desoky Sherif El , shalaby mohamed , Kari Jameela , Hildebrandt Friedhelm , Schneider Ronen 
Published: April 2024

Abstract
Background: Steroid-resistant nephrotic syndrome is the second leading cause of chronic kidney disease among patients <25 years of age. Through whole exome sequencing, identification of >65 monogenic causes has rendered insights into disease mechanisms of nephrotic syndrome.
Methods: To elucidate novel monogenic causes of NS, we combined homozygosity mapping with ES in a worldwide cohort of 1649 pediatric patients with NS.
Results: We identified homozygous missense variants in MYO1C in two unrelated children with nephrotic syndrome (c.292C>T, p.R98W; c.2273 A>T, p.K758M). We evaluated publicly available kidney single-cell RNA sequencing datasets and found MYO1Cto be predominantly expressed in podocytes. We then performed structural modeling in molecular viewer PyMol using the super function aligning shared regions within both partial structures of MYO1C (4byf and 4r8g). In both structures, calmodulin, a common regulator of myosin activity, is shown to bind to the IQ motif. At both residue sites (K758; R98), there are ion-ion interactions stabilizing intradomain and ligand interactions: R98 binds to nearby D220 within the Myosin Motor Domain and K758 binds to E14 on a calmodulin molecule. Variants of these charged residues to non-charged amino acids could ablate these ionic interactions, weakening protein structure and function establishing the impact of these variants.
Conclusion: We here identified recessive variants in MYO1C as a potential novel cause of nephrotic syndrome in children.
Theoretical Study of Adsorption Properties and CO Oxidation Reaction on Surfaces of Higher Tungsten Boride
Authors: Radina Aleksandra D. , Baidyshev Viktor S. , Chepkasov Ilya V. , Mastoskin Nikita A. , Altalhi Tariq , Yakobson Boris I. , Kvashnin Alexander G. 
Published: April 2024

Abstract
Most of the modern catalysts are based on precious metals and rear-earth elements making some reactions of organic synthesis economically insolvent. Density functional theory calculations here are used to describe several differently oriented surfaces of higher tungsten boride WB5-x, along with their catalytic activity for CO oxidation reaction. Based on our findings, WB5-x appears as efficient alternative catalyst for CO oxidation. Computed surface energies enable the use of Wulff construction to determine the equilibrium shape of WB5-x particles. It is found that (010) and (101) facets terminated by boron and tungsten, respectively, are the mainly exposed surfaces for which the various gas agents (СО, СO2, H2, N2, O2, NO, NO2, H2O, NH3, SO2) adsorption is evaluated, to reveal promising prospects of applications. CO oxidation on B-rich (010) and W-rich (101) surfaces is further explored in more detail by analyzing the charge redistribution during the adsorption of CO and O2 molecules. It is found that CO oxidation displays relatively low energy barriers. Implications of the present results, the WB5-x effects on the CO oxidation, and potential use in automotive, chemical, mining industries are discussed.
Random uncertain motor parameters identification based on fourth-order moment method and trust region management technology
Authors: Mao wengui , Liao Congcong , Guo Jie , Wu Xuemei , Li Jianhua 
Published: April 2024

Abstract

In many engineering practices, motor parameters are usually uncertain due to complex objective environments or various subjective perceptions. Using the fourth-order moment method and trust region model management technology, the uncertain motor parameter identification problem is transformed into a deterministic parameter identification problem for motor statistical characteristic parameters. Firstly, the probability distribution function is used to measure the uncertainty. The cumulative probability under different motor performance response thresholds is calculated by the fourth-order moment method to obtain the corresponding probability distribution function. In the subsequent framework, the micro multi-objective genetic algorithm is used to minimize the calculated and measured cumulative probability of motor performance response. To improve the optimization efficiency, the trust region management technology, is guided to gradually approach the region where the real fourth-order motor statistical characteristic parameters are located. At the same time, the genetic intelligent technology is introduced to reduce the calculation cost. Finally, the numerical results in the example show that the proposed method can effectively identify the uncertain motor parameters.
Mediating Role of Chiro-inositol Metabolites on the Effects of HLA-DR-expressing CD14+ Monocytes in Inflammatory Bowel Disease
Authors: Zhang Leichang , Shen Pan , Ge Wei , Liao Wu , Luo Qinghua , Li Chaofeng , Zhan Chuanyu , Yuan Xiao , Zhang Xiaonan , Yan Xiaojun 
Published: April 2024

Abstract

Background
Inflammatory bowel disease (IBD), a chronic inflammatory condition, is caused by several factors involving aberrant immune responses. Genetic factors are crucial in the occurrence of IBD. Mendelian randomization (MR) can offer a new perspective in understanding the genetic background of IBD.
Methods
The two-sample MR approach was used to estimate the causal relationship of immune cells to IBD. Single nucleotide polymorphisms (SNPs) were considered instrumental variables (IVs). We analyzed the relationship between 731 immunophenotypes, 1,400 metabolite phenotypes, and IBD.
Results
We identified the causal effects of HLA-DR-expressing CD14 + monocytes on IBD through MR analysis. The phenotype of "HLA-DR expression on CD14 + monocytes" showed the strongest association among the selected 48 immune phenotypes. Chiro-inositol metabolites mediate the effect of CD14 + monocytes expressing HLA-DR on IBD. An increase in Chiro-inositol metabolites was associated with a reduced risk of IBD occurrence, accounting for 4.97%.
Conclusion
Our findings reveal a new pathway by which HLA-DR-expressing CD14 + monocytes indirectly reduce the risk of IBD occurrence by increasing the levels of Chiro-inositol metabolites, providing a new perspective on the immunoregulatory mechanisms underlying IBD. It lays a theoretical foundation for developing new therapeutic targets.
Adaptive Decision-Making for Emergency Monitoring Task Migration: Delay Risk Control and Multi-Agent Reinforcement Learning
Authors: Fan Zhiyong , Lin Yuanmo , Ai Yuxun , Xu Hang 
Published: April 2024

Abstract

The timely and reliable handling of post-disaster emergency monitoring tasks is crucial for effective rescue operations. UAV-assisted edge computing plays a pivotal role in the rapid deployment of such systems. However, challenges persist due to communication and computation resource bottlenecks when dealing with delay-sensitive monitoring tasks. In dynamic post-disaster environments, effective task scheduling and resource allocation decisions directly impact the system's ability to process tasks. Therefore, this paper proposes an adaptive task migration decision-making system for emergency monitoring tasks in UAV-assisted edge computing. Firstly, We decomposed the optimization objectives based on the task processing workflow, then devised a stepwise delay risk control and resource recovery mechanism based on early discarding. Secondly, by integrating multi-agent reinforcement learning (MARL), optimal strategies for task offloading, UAV queue scheduling, and communication resource allocation are learned to enhance the decision system's environmental awareness and maximize the successful completion of emergency monitoring tasks. Simulation experiments demonstrate that the algorithm significantly improves the success rate of migration tasks and data processing capacity, thereby validating its convergence and effectiveness.
Biocompatible Janus Microparticle Synthesis in a Microfluidic Device
Authors: Saqib Muhammad , Tufan Yiğithan , Orsel Z. Cemre , Ercan Batur , Erdem E. Yegan 
Published: April 2024

Abstract
Janus particles are popular in recent years due to their anisotropic physical and chemical properties. Even though there are several established synthesis methods for Janus particles, microfluidics-based methods are convenient and reliable due to low reagent consumption, monodispersity of the resultant particles and efficient control over reaction conditions. In this work a simple droplet-based microfluidic technique is utilized to synthesize magnetically anisotropic TiO2-Fe2O3 Janus microparticles. Two droplets containing reagents for Janus particle were merged by using an asymmetric device such that the resulting droplet contained the constituents within its two hemispheres distinct from each other. The synthesized Janus particles were observed under the optical microscope and the scanning electron microscope. Moreover, a detailed in vitro characterization of these particles was completed, and it was shown that these particles have a potential use for biomedical applications.
Exploring Performance and Emission Traits of CI Engine Fueled by Waste Cooking Oil- derived Biodiesel Enhanced with Nano Particles
Authors: Birhanu Biru 
Published: April 2024

Abstract
In this groundbreaking experimental study, examines the impact of copper oxide (CuO) and Titanium oxide (TiO2) nanoparticles on both emissions and performance of a 4.1.5 kW diesel engine fueled by waste cooking oil biodiesel. B20 test fuel blends fortified with 50 ppm concentrations of CuO and TiO2 nanoparticles, subjected to rigorous testing across diverse engine loads (20%, 40%, 60%, and 80%) while maintaining a constant speed of 1,500 rpm. Through meticulous evaluation of key performance metrics such as brake thermal efficiency (BTE) and brake-specific fuel consumption (BSFC), coupled with the analysis of emissions including CO, CO2, HC, and NOx, we observed remarkable enhancements. Notably, the introduction of 50 ppm copper oxide and titanium oxide nanoparticles into biodiesel blends resulted in a notable boost in brake power (BP) and BTE, showcasing a remarkable surge from 12.39% to 22.14% in BP and 4.92% to 15% in BTE, underscoring their profound impact of particular significance, B2050CuO exhibited superior combustion characteristics compared to titanium nanoparticles, leading to elevated flame temperature and reduced ignition delay, thereby translating into improved engine performance, enhanced braking power output, and overall superior brake thermal efficiency. Furthermore, CuO and TiO2 nanoparticle blends demonstrated a significant reduction in CO emissions at full load with a 50 ppm dosage, achieving reductions of 6.32%, 8.57%, and 6.25%, respectively. Moreover, for B20 and B2050 TiO2 blends, HC emissions saw a notable drop by 9.14%, 6.57%, and 2.817%, promoting efficient combustion through enhanced fuel molecule interaction. Comparatively, the inclusion of B20, B2050TiO2, and B2050CuO fuel blends led to substantial reductions in CO2 levels by 14.4%, 4.8%, and 3.75%, along with lowered NOx emissions by 5.2%, 3.125%, and 2%, highlighting their potential in mitigating environmental impact."
DBP, a key characteristic molecule associated with skeletal muscle dysfunction in COPD
Authors: Li Shuai , jiang Feng , Wei Xiaoqi , Fan Xinyi , Tang Jiayang , Yu Jiang , Lin Dayu , Qian Xiangyi , Xiao Jinling , Zhang Peng , Guo Shuzhen 
Published: April 2024

Abstract
Background Skeletal muscle dysfunction is a prevalent and serious complication of chronic obstructive pulmonary disease (COPD), presenting significant clinical challenges. Despite its commonality, the specific molecules and the mechanisms at play in COPD-related muscle dysfunction remain elusive, leaving a gap in effective early diagnostic and therapeutic strategies.
Methods Our study aims to pinpoint the molecular signatures of skeletal muscle dysfunction in COPD by developing both in vivo and in vitro research models, deploying cutting-edge high-throughput sequencing techniques, and employing sophisticated algorithms for dimensionality reduction analysis.
Results In our COPD rat models, we observed profound structural changes in the skeletal muscles, such as fiber disruption, mitochondrial shrinkage, and a decrease in mitochondrial count. Notably, we identified DBP—a key molecule—as being markedly overexpressed in COPD models, both in vivo and in vitro.
Conclusion Our findings underscore the significant impact COPD has on skeletal muscle structure, leading to muscle wasting, fiber damage, and mitochondrial deterioration. The identification of DBP as a critical molecular marker sheds light on the potential pathways of skeletal muscle impairment in COPD and opens the door for new diagnostic and therapeutic interventions.
Hot and hungry: A mechanistic approach to the direct and indirect effects of marine heatwaves on plankton communities
Authors: Grigoratou Maria , Serra-Pompei Camila , Kemberling Adam , Pershing Andrew J. 
Published: April 2024

Abstract
Marine heatwaves, increasingly frequent, impact marine ecosystems and services. Still, understanding how temperature affects observed responses remains limited due to complex interactions among temperature, abiotic and biotic factors, and community dynamics. Here we try to fill this gap by exposing simulated plankton communities to seasonal heatwaves of 4°C with a trait- and size-structured model that accounts for protists and the life cycle of copepods. Despite the short lifespans and fast growth rates of plankton, results show that heatwaves affect communities differently and for an extended period up to six years after their appearance. Temperature affects species physiology and ecosystem dynamics, directly and indirectly, shaping structure and biomass. Species traits, interactions, and functional diversity under changing temperatures emerge as pivotal. Our study advances mechanistic insights into marine heatwave impacts, highlighting the complex connections between temperature, species traits, and ecological interactions.
Sequence Detection in Bilayer 1T1R RRAM Device with Integrated State Machine
Authors: Singh Simranjeet , Paul Godwin , Bende Ankit , Kempen Tim , Cüppers Felix , Patkar Sachin , Rana Vikas , Merchant Farhad 
Published: April 2024

Abstract
Recent advancements in machine learning algorithms have driven a search for novel computation hardware and techniques to alleviate data bottlenecks. In terms of hardware, there’s a noticeable trend towards in-memory computing (IMC). Resistive random-access memory (RRAM) has surfaced as a compelling option for IMC applications owing to its non-volatile nature, reduced power requirements, and more compute density in contrast to conventional CMOS-based computing approaches. Simultaneously, there has been a notable rise in the advancement of novel algorithms alternatives to neuron-based implementations based on learning automata (e.g., propositional logic-based Tselin machine), presenting resource efficiency, particularly within the domain of the state-machine paradigm. An important observation is the multi-level behavior exhibited by RRAM cells, offering an avenue to mimic state machine functionalities. However, integrating state machines onto RRAM devices poses challenges despite these advancements. Through experimental explorations, this paper investigates the practical utilization of RRAM’s multi-state properties for finite-state machine (FSM) applications. This study demonstrates the multi-state behavior through gradual reset methodologies by fabricating RRAM cells alongside CMOS transistors to create 1T1R cells. Moreover, a sequence detector is devised to identify specific patterns within strings using a single 1T1R cell, effectively encapsulating the FSM onto a single device. This approach promises improvements in data density and offers enhanced energy efficiency. Rigorous experimental validation underscores the accuracy and reliability of the proposed methodology, laying a robust groundwork for efficient multi-state applications within advanced computing paradigms.
Prevalence of vaginal HPV infection among 35- year age cohort ever- married women in Kalutara district of Sri Lanka and the feasibility of vaginal HPV/DNA specimen as a cervical cancer screening tool. A cross- sectional study
Authors: Perera KCM , Mapitigama KN , Abeysena HTCS 
Published: April 2024

Abstract
Background Cervical cancer is the 2nd most common female cancer among Sri Lankan females and is almost associated with sexually transmitted cervicovaginal human papillomavirus (HPV) infection. The study objective is to determine the prevalence of vaginal HPV infection among ever-married women.
Method A descriptive cross-sectional study was carried out from 1st of July 2018 to 30th November 2018. Ever-married women 35 years of age in Kalutara district were the study population. The cluster sampling method was used. Three women from each cluster (n=413) were selected by consecutive sampling technique. HPV/DNA cervical specimen and vaginal specimen collection (n=822) were carried out. Specimens were screened by the cobas 4800 HPV/DNA automated Polymerase Chain Reaction (PCR) machine. Participants’ profiles were recorded by the Research Assistants by using an Interviewer Administered Questionnaire.
Results The overall prevalence of vaginal and cervical HPV infection was 7.08% (95% CI; 5.2%-9.4%) and 6.12% (95% CI; 4.26%-8.3%) respectively. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), diagnostic accuracy, and the kappa coefficient of the vaginal HPV/DNA screening method vs. cervical HPV/DNA screening method were 100%, 98.9%, 86.4%, 100%, 99% and 0.92 respectively.
Conclusions Primary health care provider collected vaginal HPV/DNA specimen screening method can be used in Sri Lanka to improve the coverage of clinic non-attendees
YOLOv8-PD:An Improved Road damage detection algorithm based on YOLOv8n model
Authors: zeng Jiayi , Zhong Han 
Published: April 2024

Abstract
Road damage detection is an crucial task to ensure road safety. To tackle the issues of poor performance on multi-scale cracks and high costs in road damage detection, this paper presents an improved lightweight road damage detection algorithm based on YOLOv8n, named YOLOv8-PD (Pavement Disease). Firstly, a BOT module that can extract global information of road damage images is proposed to adapt to the large-span features of crack objects. Secondly, the introduction of the Large Separable Kernel Attention (LKSA) mechanism enhances the detection accuracy of the algorithm. Then, a C2fGhost block is constructed in the neck network to strengthen the feature extraction of complex road diseases while reducing the computational load. Furthermore, we introduced Lightweight Shared Convolution Detection Head (LSCD-Head) to improve feature expressiveness and reduce the number of parameters. Finally, extensive experiments on the RDD2022 dataset yield a model with parametric and computational quantities of 2.3M and 6.1 GFLOPs, which are only 74.1% and 74.3% of the baseline, and the mAP reaches an improvement of 1.4 percentage points from the baseline. In addition, experimental results on the RoadDamage dataset show that the mAP increased by 4.2% and this algorithm has good robustness. This method can provide a reference for the automatic detection method of pavement cracks.
Structure-Dynamics Relation in Metallic Glass Revealed by 5-Dimensional Scanning Transmission Electron Microscopy
Authors: Nakazawa Katsuaki , Mitsuishi Kazutaka , Konstantin Iakoubovskii , Kohara Shinji , Tsuchiya Koichi 
Published: April 2024

Abstract

Dynamic and structural heterogeneities play an important role in glass transition phenomena. However, the relation between these heterogeneities is not fully revealed. In this study, we simultaneously observed these heterogeneities near the glass transition temperature in Zr50Cu40Al10 using five-dimensional scanning transmission electron microscopy, which can record the spatiotemporal distribution of diffraction patterns. The heterogeneities were visualized with sub-nanometer resolution, and a correlation between them was measured up to the glass transition temperature. We verified that ordered structures had slow dynamics and the order decreased as the temperature increased.
A single base deletion in exon 2 of Hd1 delineates monogenic recessive photoperiod insensitivity in an aromatic Joha rice mutant.
Authors: Sarma Debojit , Reddy Bodeddula , Baradkar Shreekant , Manogna Tamma , Bordoloi Dibosh , Bihani Subhash , Barua Nagendra , Baruah Akhil , Das Bikram , Mondal Suvendu 
Published: April 2024

Abstract
A photoperiod-insensitive mutant was isolated from a gamma rays-induced M2 population of a Joha rice landrace, Kon Joha. The mutant was found to be unique, and the induced photoperiod insensitivity was conditioned by a single recessive gene. Towards mutant gene tagging, 402 SSR and InDel markers were screened, and later polymorphic markers were used in bulk segregant analysis (BSA) in the F2 population of 'mutant x Kalijeera (distant parent)'. BSA identified an association of an SSR marker RM527 with this mutant trait. This marker is present in chromosome 6 of the rice genome. Including chromosome 6 specific SSR markers in polymorphic screening and BSA later identified another associated marker, RM19725, for the mutant trait. The genomic interval of RM527 and RM19725 harboured a photoperiod-insensitive gene, Hd1, in chromosome 6. Cloning and sequencing of Hd1 genomic fragments from parent and mutant revealed a single base deletion in exon 2, leading to a frameshift mutation in the Hd1 protein. Designing allele-specific primer pairs for the above mutation was crucial to detect a tight association of the Hd1 with the mutant trait in the homozygous mutant/parent type plants in the F3 generation of the 'mutant x parent' population. The mutation in exon 2 leads to severe structural abnormalities in the CCT domain of the Hd1 protein that is critical in the interaction of repressing complex with conserved response element in the florigen gene under long-day conditions.
Habitat preferences and feeding behaviour of Speckled mousebird (Colius striatus) in urban sub- Saharan Africa: the case study from Cameroon
Authors: Domeni Dorvald Nice , II Taku Awa , Kamga Solange Mekuate , Tache José Innoncent Tamdjo , Riegert Jan 
Published: April 2024

Abstract
Forests and other intact areas within the tropics are nowadays in the main focus of researchers and little or no attention is paid to urban sub-Saharan environments justifying the need for gathering baseline data. It is important to understand urban bird species ecology and uncover its interactions with city people. Speckled mousebird (SM, Colius striatus) is one of the most common species in rural and urban areas within man-made environments. We systematically sampled 222 random count points in Dschang (West Cameroon) using binoculars within buffers of a 50 m radius around count points for 10 minutes two times during the period September-November 2022. The population density reached 1.33 inds./ha and its distribution largely followed random pattern. The presence of SM was positively correlated with abundance of fruiting trees, the most important was percentage of guava (Psidium guajava) and papaya (Carica papaya) tree. Similarly, the presence of SM was positively linked to human population size since it often occurred within mosaic agriculture areas and near dwellings. Percentage of feeding time was increased around garbage sites due to increased availability of nutrients for fruiting trees there. We further found a positive relationship between the percentage of feeding time and temperature and increased number of vocal interactions around garbage sites. Finally, the number of vocal interactions decreased with Julian date to protect nestlings against predators. Our results showed that interaction of SM with human was a significant driver for SM distribution within the study area.