bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia-Telangiectasia Patients: Introducing Three Novel Mutations
Authors: Badalzadeh Mohsen , Bavani Maryam Soleimani , Alizadeh Zahra , Mirmoghtadaei Milad , Shakerian Leila , Bahram Seiamak , Molitor Anne , Carapito Raphael , Moradi Leila , Razaghian Anahita , Assari Raheleh , Movahedi Masoud , Shariat Mansoureh , Houshmand Massoud , Habibi Laleh , Hamidieh Amir Ali , Ashrafi Mahmoud Reza , Fazlollahi Mohammad Reza , Pourpak Zahra 
Published: May 2023

Abstract
Background: Ataxia Telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease caused by mutations in the ATM gene. The gene is on chromosome 11q22-23 and codes for the protein kinase ATM, which plays an essential role in DNA damage repair. The classic neurological signs of AT include progressive cerebellar ataxia, oculomotor abnormalities, movement disorders, and cognitive dysfunction. The condition presents with multisystem involvement, leading to immunodeficiency‚ cancer predisposition, oculocutaneous telangiectasia‚ and elevated serum alpha-fetoprotein levels. In this study, we review the clinical characteristics of 13 AT patients, 3 of whom displayed novel mutations.
Method : Thirteen patients with ataxia-telangiectasia from 10 unrelated families were referred to Immunology, Asthma and Allergy Research Institute, Tehran, Iran. After clinical confirmation, blood samples were collected from the patients and their parents. Genetic analysis for 8 patients was conducted using whole-exome sequencing (WES); in the other 3 patients, polymerase chain reaction (PCR) was used, followed by sequencing. The mutations found via WES were confirmed by Sanger sequencing.
Results: We identified 11 different mutations in ATMgene. Two patients had mutations as compound heterozygous, while 9 other patients were homozygous for the mutations. Among these, 3 likely pathogenic mutations (ie, c.4864G>T, c.2639-1G>A, and c.7940_7970delTTCCAGCAGACCAGCCAATTACTAAACTTAA) have not been reported. All parents showed a heterozygous state.
Conclusion: Our study highlights the significance of next-generation sequencing techniques in identifying novel ATMmutations in AT patients. Although all reported AT mutations reside in one gene, the absence of a mutation hotspot for this gene necessitates the use of next-generation sequencing techniques. Specifically, we identified 3 mutations that have not been reported previously, emphasizing the importance of continued research in this area. This study provides new insights into the genetic underpinnings of AT and underscores the potential clinical implications of identifying novel mutations. Further research in this area can help improve diagnosis and inform potential treatments for AT.
Mechanistic analysis of the evolution of trust level between owner and PMC contractor based on dynamic Bayesian network
Authors: Hongyan Li , BARI ABDUL , Aobo Yue 
Published: May 2023

Abstract
The PMC project advocates a non-confrontational cooperation model. As an extension of the owner, the PMC contractor manages the project in all aspects and processes on behalf of the owner, and the level of trust between the two parties determines effectiveness of management, which in turn affects the success or failure of the project. This paper adopted a dynamic Bayesian network approach, based on social exchange theory, to establish a dynamic model of the evolution of trust level between owners and PMC contractors, and used the two-way inference function of dynamic Bayesian network to identify the key indicators and dynamic evolution law of trust level. The results of the study indicated that the trust level between the owner and the PMC contractor depends mainly on the level of calculative and relational trust, and that the most important drivers of calculative and relational trust are the reciprocal behaviors and contractual flexibility. In addition, the reciprocal behaviors has a greater driving effect on the promotion of relational trust, and the contract flexibility has a greater driving effect on the promotion of calculative trust. Also, the level of calculative trust is higher in the early stage of project implementation, and the more calculative trust is generated, the more relational trust is generated in the middle and later stages. In the middle and later stages of the project, the importance of relational trust gradually increases and surpasses that of calculative trust, and the decline of relational trust has a greater negative impact on the overall trust level than calculative trust.
Adaptive IEEE 802.11ah MAC protocol for Optimization Collision Probability in IoT smart city data traffic Based Machine Learning models
Authors: Ibrahim Amin , Hafez Ahmed 
Published: May 2023

Abstract
Internet of Things (IoT) and Artificial Intelligent (AI) are considered the key technologies for emerging 5G. The IoT empowers things to exchange data together using the internet towards a human beneficiary. The rapid growth of the IoT smart city influences diversified sources of data, a growing data sphere, and a massive number of sent packets, which are leading to a collision probability problem. AI technology coexists with IoT smart city networks to solve the collision problem. The paper starts to analyze the collision probability in the RAW and PRAW access channels of IEEE 802.11ah, compared to legacy IEEE 802.11 protocols. The paper derives two collision probability formulas in IEEE 802.11ah. Machine Learning (ML) algorithms as a subset of AI technology were proposed to classify and allocate each traffic pattern in the IoT smart city use case onto an appropriate IEEE 802.11ah access channel, denoted as adaptive IEEE 802.11ah MAC protocol. It is anticipated that the proposed adaptive IEEE 802.11ah protocol reduces the collision probability in the crowded IoT smart city networks for a percentage performance of 80% ～ 90% and it was obtained by the Decision Tree (DT) algorithm of supervised ML with 99.45% accuracy and 1.066 sec processing time.
Optical trapping and manipulating with a transmissive and polarization-insensitive metalens
Authors: Yang Dongni , Zhang Jianchao , Zhang Pengshuai , Liang Haowen , Ma Jie , Wang Xue-Hua , Li Juntao 
Published: May 2023

Abstract

Trapping and manipulating micro-objects and high precision measurement of tiny force and displacements are of significance in physical and biological studies. Conventional optical tweezers rely on a tightly focused beam formed by a bulky microscope system. Currently, flat lenses, especially metalenses, have become emerging platforms for miniature optical tweezers application. Compared to traditional objectives, metalenses can be integrated into the sample chamber, so as to realize chip-scale light manipulation. Here, a transmissive and polarization-insensitive water-immersion metalens constructed by adaptive nano-antennas is experimentally proposed with an ultra-high numerical aperture (1.28) and a high focusing efficiency (~ 50%) at the wavelength of 532 nm. With it, a stable optical trapping has been demonstrated with the lateral trapping stiffness of more than 500 pN/(µm·W), which reaches the same order of magnitude as a conventional objective and shows better performance than other reported flat lenses. In addition, bead steering experiment exhibits lateral manipulation range more than 2 µm, including the region of approximately 0.5 µm with little changes in stiffness. We believe that this metalens enables chip-scale optical tweezers, making optical trapping and manipulating easy, reliable, high-performance and more compatible with prevalent optical tweezers applications such as single-molecule or single-cell experiments.
Challenging the Universality of Heatwave Definitions: Gridded temperature discrepancies across climate regions
Authors: de Perez Erin Coughlan , Arrighi Julie , Marunye Joalane 
Published: May 2023

Abstract
As global studies of extreme heat forecast increasingly dire outcomes with climate change, there is an urgent and unmet need to understand the appropriateness of heatwave definitions and temperature datasets in different parts of the world. We carry out an intercomparison of the CHIRTS gridded stationsatellite temperature dataset with three reanalysis products: ERA5, NCEP-DOE Reanalysis 2, and MERRA2 to assess biases in the absolute value of extreme heat events and the distribution of extreme events. We find close agreement between all four datasets in the magnitude and distribution of extreme temperatures, with a cold bias in the reanalyses over mountainous areas. However, there is little to no agreement between datasets on the timing of extreme heat events in the Tropics, and the datasets do not even agree on which month is the hottest month climatologically in these regions. Second, we compare how the four datasets represent the frequency and timing of extreme heat events, using two different types of heatwave definitions: 5-day duration-based extremes and extreme temperature-humidity combinations (Heat Index). In the case of 5-day heatwaves, there are almost zero events recorded historically in Tropical regions. In contrast, high absolute values of the Heat Index are most common in Dry climates, likely due to the dominance of high temperature spikes in these regions, and high Heat Index events also occur in Temperate and Tropical regions. There is little agreement between datasets, however, on when these extreme Heat Index events have happened historically in the tropics. Given these results, we highlight the need for locally-developed heatwave metrics for different parts of the world, and we urge against the use of a single heatwave definition in global studies. We also recommend that any studies assessing heat-health relationships in tropical regions beware of the lack of agreement between observational and reanalysis datasets, and compare results from different gridded dataset products to estimate uncertainty in heat-health relationships.
Numerical Study on the Wave Pattern Characteristic of Air Layer in Cavity and the Effects of Multiple Influence Factors
Authors: Zhang Xiaosong , Ji Xue-qin , Chen Lei-qiang , Gao Li-jin , Huang Hong-bo , Hong Fang-wen 
Published: May 2023

Abstract
Air-Layer Drag Reduction (ALDR) technology for ship energy saving is getting more and more attention in recent years because of the outstanding drag reduction effect. In order to promote practical application, it is necessary to fully understand air layer two phase flow characteristics. Recent experimental studies have shown that the surface of the air layer presents wave pattern, which has an important influence on its damage risk. However, it is difficult to measure the wave pattern quantificationally due to the interference of equipment. Therefore, the main goal of the present paper is to investigate the wave pattern characteristic of air layer in cavity using numerical simulation method. On the basis, the effect of flow and geometric influence factors are discussed to understand the key control conditions. A CFD numerical method based on RANS equations and VOF interface capturing method is established, and has been successfully applied on the simulation of air layer wave pattern. Both two-dimensional and three-dimensional simulations are carried out, aiming at analyzing air-water interface flow and vortex flow directly. Based on the simulation results, it is found to be an inherent characteristic that the wave height of the upstream air layer is higher than that of the downstream, which causes that the first wave peak becomes the most important failure position of the air layer. The reason is analyzed from the view of vortex field in this paper. As the most important flow parameters, the influences of water flow velocity and air volume flow rate on the wave height and length have been discussed in detail. In terms of the geometric parameters, the cavity configuration, depth and width are found to exert great effects on the wave pattern while the position and size of air injector have little effect. Based on the analysis of this paper, it is believed that these geometric configurations affect the air layer by affecting the local vortex flow fields. The results of this study can help improve the understanding of air layer flow and provide reference for ship air cavity design.
HES1 promotes aerobic glycolysis and cancer progression of colorectal cancer via IGF2BP2-mediated GLUT1 m6A modification
Authors: Wang Jiayu , Zhu Meng , Jinhan Zhu , Li Juntao , Zhu Xingchao , Wang Kun , Shen Kanger , Yang Kexi , Ni Xiangyu , Liu Xin , Zhang Guangbo , Xi Qinhua , Chen Weichang , Shi Tongguo 
Published: May 2023

Abstract
HES1 plays a critical role in promoting tumor progression, but the underlying mechanisms are only partially understood. Here, we found that HES1 expression was significantly higher in CRC tissues than that in adjacent normal tissues. Moreover, high HES1 expression is associated with poor survival in CRC patients. HES1 knockdown markedly inhibited cell growth and metastasis both in vitro and in vivo. Additionally, silencing of HES1 suppressed aerobic glycolysis of CRC cells. Mechanistic studies revealed that HES1 knockdown decreased the expression of GLUT1, a key gene of aerobic glycolysis, in CRC cells. GLUT1 overexpression abolished the effects of HES1 knockdown on cell aerobic glycolysis, proliferation, migration and invasion. ChIP-PCR and dual-luciferase reporter gene assay showed that HES1 directly bound the promoter of IGF2BP2 and promoted IGF2BP2 expression. Furthermore, our data indicated that IGF2BP2 recognized and bound the m6A site in the GLUT1 mRNA and enhanced its stability. Taken together, our findings suggest that HES1 has a significant promotion effect on CRC aerobic glycolysis and progression by enhancing the stability of m6A-modified GLUT1 mRNA in an IGF2BP2-dependent manner.
Exploration on Target Object Recognition and Location Technology of Mobile Robot Based on Digital Twin
Authors: Hou Haixia 
Published: May 2023

Abstract
In recent years, robot technology has developed rapidly. With the continuous progress and innovation of technology, intelligent mobile robots have become a very common technical element in life. Mobile robot target recognition is a multidisciplinary and complex technology based on image processing, analysis, and understanding, which has great application value and importance. Digital Twin technology provides services, data, and information and physical space can be integrated and displayed through the connection of analog models and physical devices. Therefore, there is an urgent need to study the concept of digital twins and combine them with digital robots to identify and identify targets. In this paper, digital twinning technology was applied to mobile robots to study target recognition and positioning technology. This article constructed a mobile robot digital twin system, and introduced the interactive control framework of the digital twin mobile robot and the virtual real interaction mechanism. The overall framework and operation mechanism of the mobile robot digital twin system have been basically established. After taking photos of the target, the minimum variance filtering algorithm was used for image processing. The threshold segmentation algorithm was used to segment the processed image, and then the directional gradient histogram method was used to extract image features. Finally, SVM (Support Vector Machine) classifier was used to classify images based on the extracted image features, so as to achieve the goal of target object recognition. After completing target object recognition, EKF (Extended Kalman Filter) was used to locate the target object, thereby achieving target object positioning. The experimental part carried out target object recognition and positioning. The experimental results showed that the digital twin mobile robot had a high effect on target object recognition and positioning, with an accuracy rate of over 80% for target object recognition. The x-axis and y-axis positioning errors of the digital twin mobile robot were lower than traditional positioning algorithms, and could effectively identify and locate target objects.
Comprehensive analysis of cancer of unknown primary and recommendation of a histological and immunohistochemical diagnostic strategy from China
Authors: Ren Min , Cai Xu , Jia Liqing , Bai Qianming , Zhu Xiaoli , Hu Xichuan , Wang Qifeng , Luo Zhiguo , Zhou Xiaoyan 
Published: May 2023

Abstract
Background
Previous studies on cancer of unknown primary (CUP) mainly focus on treatment and prognosis in western populations and lacked clinical evaluation of different IHC markers, so this study aimed to evaluate characteristics of CUP and recommend a diagnostic strategy from a single center in China.
Methods and Results
Data of 625 patients with CUP were retrospectively collected and reviewed. The patients ranged in age from 20 to 91 years, with a female-to-male ratio of 1.3:1. The predominant histological type was poor or undifferentiated adenocarcinomas (308; 49.3%). The results of Canhelp-Origin molecular testing for the identification of the tissue of origin in 262 of 369 patients (71.0%) were considered predictable (similarity score > 45), with the most common predicted primary tumor site being the breast (57, 21.8%). Unpredictable molecular results correlated with more aggressive clinical parameters and poor survival. Thee positivity rates of several targeted antibodies (GATA3, GCDFP15, TTF1, Napsin A, and PAX8), based on the clinically predicted site, were lower than those reported for the corresponding primary tumors. Nonetheless, TRPS1 and INSM were reliable markers of predicted breast carcinoma (75.0%) and neuroendocrine tumors (83.3%), respectively. P16 expression, as well as HPV and EBER testing contributed significantly to the diagnosis of squamous cell carcinomas. Survival analysis revealed that older ages (> 57), ≥ 3 metastatic sites, non-squamous cell carcinomas, bone/liver/lung metastases, unpredictable molecular results, and palliative treatment correlated with poor overall survival.
Conclusions
We recommend a CUP diagnostic strategy involving the use of targeted antibody panels as per histological findings that is potentially applicable in clinical practice. The markers TRPS1, INSM1, and P16 expression, as well as HPV and EBER testing are particularly valuable in this aspect. Molecular testing is also predictive of survival rates.
Diagnostic value of TSPOT.TB, AFB smear microscopy, Genechip, and their combined application in Tuberculosis: a retrospective study.
Authors: Xiong Huanqing , Wang Huiqin , Gao Jiaying , Zhao Shihong , Li Yujuan , Chen Jian , Liu Gang , Jin Faguang 
Published: May 2023

Abstract
Background: The Interferon-gamma release assay (IGRA) and Genechip are new tuberculosis diagnostic methods, but there have been limited studies conducted on combined application in tuberculosis. Starting in January 2021, Tangdu Hospital of Air Force Medical University began routinely using IGRA and Genechip. Therefore, the purpose of this study was to evaluate the efficacy of IGRA and Genechip, explore the feasibility of combined diagnosis, and provide guidance for the detection and diagnosis of tuberculosis in non-specialized hospitals.
Methods: A retrospective study was conducted on 286 patients hospitalized at Tangdu Hospital of Air Force Medical University from January 1, 2021, to April 1, 2023. The diagnostic tests included IGRA (TSPOT.TB), Genechip, and acid-fast bacilli (AFB) smear microscopy. Active TB cases were determined based on a composite reference standard (CRS). The three methods were then compared and evaluated.
Results: In total,286 patients simultaneous testing using TSPOT.TB, Genechip, and AFB smear microscopy methods. Among them, 36% (105/286) were diagnosed with active tuberculosis. The average age of these patients was 58.7±16.8 years old, with 55.6% (159/286) being over 60 years old and 44.4% (127/286) being under 60 years old. Regarding patients aged over 60 years old, the sensitivity, specificity, and AUC values for detecting tuberculosis using TSPOT.TB, AFB smear microscopy, and Genechip were 46.5%, 82.1%, 0.644; 17.2%, 99%, 0.581; and 74.1%, 98%, 0.861, respectively. For patients under 60 years, the sensitivity, specificity, and AUC values for detecting tuberculosis using TSPOT.TB, AFB smear microscopy, and Genechip were 44.6%, 85.0%, 0.648; 10.6%, 100%, 0.553; and 72.3%, 97.5%, 0.849, respectively. The AFB smear microscopy + Genechip combination had the highest diagnostic performance for patients aged over 60 years old, with a sensitivity of 84.4%, specificity of 97.0%, and AUC of 0.908. For patients under 60 years old, the TSPOT.TB + AFB smear microscopy + Genechip combination had the highest diagnostic performance, with a sensitivity of 97.8%, specificity of 82.5%, and AUC of 0.902.
Conclusions: Genechip showed both high sensitivity and specificity, suggesting its high value in the diagnosis of tuberculosis. However, the combination of TSPOT.TB, AFB smear microscopy, and Genechip had higher diagnostic efficacy and was more effective in diagnosing tuberculosis.
Effects of intra- and inter-day temperature change on acute upper respiratory infections among college students, assessments of three temperature change indicators
Authors: Jiang Feng , Wang Rensong , Yang Yongli , Jia Xiaocan , Ma Leying , Yuan Mengyang , Bao Junzhe 
Published: May 2023

Abstract
Background
Acute upper respiratory infection (AURI) is a significant disease affecting all age groups worldwide. The differences in the impacts of different temperature change indicators, such as diurnal temperature range (DTR), temperature variation (TV), and temperature change between neighboring days (TCN), on AURI morbidity, are not clear.
Methods
We collected data on 87,186 AURI patients during 2014–2019 in Zhengzhou. Distributed lag non-linear model was adopted to examine the effects of different temperature change indicators on AURI. We calculated and compared the attributable fractions (AF) of AURI morbidity caused by various indicators. We used stratified analysis to investigate the modification effects of season and gender.
Results
With the increase in DTR and TV, the risk of AURI tended to increase; the corresponding AF values (95% eCI) higher than the references (5% position of the DTR or TV distribution) were 24.26% (15.46%, 32.05%), 23.10% (15.59%, 29.20%), and 19.24% (13.90%, 24.63%) for DTR, TV0 − 1, and TV0 − 7, respectively. The harmful effects of TCN on AURI mainly occurred when the temperature dropped (TCN < 0), and the AF value of TCN below the reference (0°C) was 3.42% (1.60%, 5.14%). The harm of DTR and TV were statistically significant in spring, autumn and winter, but not in summer, while the harm of TCN mainly occurred in winter. Three indicators have statistically significant effects on both males and females.
Conclusions
High DTR and TV may induce AURI morbidity, while the harm of TCN occurs when the temperature drops. The impacts of DTR and TV on AURI are higher than that of TCN, and the impact of few-day TV is higher than that of multi-day TV. The adverse effects of DTR and TV are significant except in summer, while the hazards of TCN mainly occur in winter.