bluuebunny/crossref_metadata_2025_split huggingface dataset:
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome – case report
Authors: Cacciatori Elena , Aleo Sebastiano , Scuvera Giulietta , Rigon Chiara , Marchisio Paola Giovanna , Cassina Matteo , Milani Donatella 
Published: October 2022

Abstract
Background
Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by deafness, branchiogenic malformations and renal abnormalities. Pathogenic variants in EYA1, SIX1 and SIX5 genes cause almost half of cases; copy number variants (CNV) and complex genomic rearrangements have been revealed in about 20% of patients, but they are not routinely and commonly included in the diagnostic work-up.

Case presentation
We report two unrelated patients with BOR syndrome clinical features, negative sequencing for BOR genes and the identification of a 2.65 Mb 8q13.2–13.3 microdeletion.

Conclusions
We highlight the value of CNV analyses in high level of suspicion for BOR syndrome but negative sequencing for BOR genes and we propose an innovative diagnostic flow-chart to increase current detection rate. Our report confirms a mechanism of non-allelic homologous recombination as causing this recurrent 8q13.2–13.3 microdeletion. Moreover, considering the role of PRDM14 and NCOA2 genes, both involved in regulation of fertility and deleted in our patients, we suggest the necessity of a longer follow-up to monitor fertility issues or additional clinical findings.
What is the purpose of clinical trial monitoring?
Authors: Love Sharon B. , Yorke-Edwards Victoria , Ward Elizabeth , Haydock Rebecca , Keen Katie , Biggs Katie , Gopalakrishnan Gosala , Marsh Lucy , O’Sullivan Lydia , Fox Lisa , Payerne Estelle , Hood Kerenza , Meakin Garry 
Published: October 2022

Abstract
Background
The sources of information on clinical trial monitoring do not give information in an accessible language and do not give detailed guidance. In order to enable communication and to build clinical trial monitoring tools on a strong easily communicated foundation, we identified the need to define monitoring in accessible language.

Methods
In a three-step process, the material from sources that describe clinical trial monitoring were synthesised into principles of monitoring. A poll regarding their applicability was run at a UK national academic clinical trials monitoring meeting.

Results
The process derived 5 key principles of monitoring: keeping participants safe and respecting their rights, having data we can trust, making sure the trial is being run as it was meant to be, improving the way the trial is run and preventing problems before they happen.

Conclusion
From the many sources mentioning monitoring of clinical trials, the purpose of monitoring can be summarised simply as 5 principles. These principles, given in accessible language, should form a firm basis for discussion of monitoring of clinical trials.
The diversity and evolutionary relationships of ticks and tick-borne bacteria collected in China
Authors: Tian JunHua , Hou Xin , Ge MiHong , Xu HongBin , Yu Bin , Liu Jing , Shao RenFu , Holmes Edward C. , Lei ChaoLiang , Shi Mang 
Published: October 2022

Abstract
Background
Ticks (order Ixodida) are ectoparasites, vectors and reservoirs of many infectious agents affecting humans and domestic animals. However, the lack of information on tick genomic diversity leaves significant gaps in the understanding of the evolution of ticks and associated bacteria.

Results
We collected > 20,000 contemporary and historical (up to 60 years of preservation) tick samples representing a wide range of tick biodiversity across diverse geographic regions in China. Metagenomic sequencing was performed on individual ticks to obtain the complete or near-complete mitochondrial (mt) genome sequences from 46 tick species, among which mitochondrial genomes of 23 species were recovered for the first time. These new mt genomes data greatly expanded the diversity of many tick groups and revealed five cryptic species. Utilizing the same metagenomic sequence data we identified divergent and abundant bacteria in Haemaphysalis, Ixodes, Dermacentor and Carios ticks, including nine species of pathogenetic bacteria and potentially new species within the genus Borrelia. We also used these data to explore the evolutionary relationship between ticks and their associated bacteria, revealing a pattern of long-term co-divergence relationship between ticks and Rickettsia and Coxiella bacteria.

Conclusions
In sum, our study provides important new information on the genetic diversity of ticks based on an analysis of mitochondrial DNA as well as on the prevalence of tick-borne pathogens in China. It also sheds new light on the long-term evolutionary and ecological relationships between ticks and their associated bacteria.

Graphical Abstract
Targeting cancer stem cells with polymer nanoparticles for gastrointestinal cancer treatment
Authors: Sun Yao , Li Bo , Cao Qian , Liu Tongjun , Li Jiannan 
Published: October 2022

AbstractNanomaterials are developing rapidly in the medical field, bringing new hope for treating various refractory diseases. Among them, polymer nanomaterials, with their excellent properties, have been used to treat various diseases, such as malignant tumors, diabetes, and nervous system diseases. Gastrointestinal cancer is among the cancers with the highest morbidity and mortality worldwide. Cancer stem cells are believed to play an important role in the occurrence and development of tumors. This article summarizes the characteristics of gastrointestinal cancer stem cells and reviews the latest research progress in treating gastrointestinal malignant tumors using polymer nanoparticles to target cancer stem cells. In addition, the review article highlights the potential of polymer nanoparticles in targeting gastrointestinal cancer stem cells.
Sex differences in clinical cognitive impairment with Lewy bodies: a Chinese multicenter study
Authors: Gan Jinghuan , Chen Zhichao , Shi Zhihong , Li Xudong , Liu Shuai , Liu Yiming , Zhu Hongcan , Shen Lu , Zhang Guili , You Yong , Guo Qihao , Zhang Nan , Lv Yang , Gang Baozhi , Yuan Junliang , Ji Yong 
Published: October 2022

Abstract
Background
Research on sex ratios of Lewy body dementia is controversial, established in small samples, and rarely focused on prodromal stage. The objective is to investigate the clinical sex ratios (men/women) and their associations with clinical features among individuals with mild cognitive impairment with Lewy bodies (MCI-LB), dementia with Lewy bodies (DLB), Parkinson’s disease with mild cognitive impairment (PD-MCI), and Parkinson’s disease with dementia (PDD) in China.

Methods
We conducted a multicenter cohort study, including 1038 individuals with probable MCI-LB, DLB, PD-MCI, or PDD diagnosis from 22 memory clinics in China from January 2018 to March 2022, and recorded their demographic and clinical data by reviewing medical records. Descriptive and regression analyses were used to calculate the sex ratio (men/women), and its associations with demographic and clinical data.

Results
In this study, men comprised 35.14% (men/women sex ratio = 0.54) for MCI-LB, 46.72% (men/women sex ratio = 0.88) for DLB, 63.56% (men/women sex ratio = 1.74) for PD-MCI, and 52.40% (men/women sex ratio = 1.10) for PDD. Sex ratios roughly increased with age. Men had more parkinsonism (p = 0.000) and less fluctuating cognition (p = 0.024) in MCI-LB, and those with PD-MCI had more RBD (p = 0.001). Women with PD-MCI had lower MMSE scores (β ± standard error =  − 1.24 ± 0.58, p = 0.04), more irritability (0.95 ± 0.46, p = 0.04) and fluctuating cognition (− 3.41 ± 1.31, p = 0.01), and less parkinsonism (− 2.10 ± 0.97, p = 0.03) than men after adjusting for demographic and cardiometabolic conditions.

Conclusion
There were more women in DLB and MCI-LB, and more men in PD-MCI and PDD. The sex distribution, demographic, and clinical characteristics differed, which strengthened the independence and heterogeneity of the four diseases, and indicated sex-sensitive strategies for management of dementia necessary.
A promising Ka band leaky-wave antenna based on a periodic structure of non-identical irregularities
Authors: Shaaban Mohamed N. , Ali Mohamed Hassan Essai , Yasseen M. S. , Nasybullin Aydar R. , Sedelnikov Yuri E. 
Published: October 2022

AbstractThis paper presents a new periodic grooved dielectric leaky-wave antenna with non-identical irregularities for an extremely high-frequency range capable of performing efficiently in the Ka band through a stable gain, a decrease in the level of the side lobes, and the achievement of a narrower main lobe beam. It consists of a dielectric waveguide antenna placed inside a channelled rectangular metallic waveguide to improve performance. A dielectric rod was used to overcome the losses related to the propagation of electromagnetic waves in metal conductors. A grooved dielectric of a 21-element linear array is used to propose a simple approach for the synthesis of such antennas based on a modified energy method and is fed by a standard waveguide. It was designed and simulated at 37.2 GHz for satellite, 5G antenna, and radar applications. The major novelty of this study is the ability to control the direction of the main lobe through non-identical irregularities in geometric parameters such as the width, height, and distance between each element. Radiation techniques have been extensively studied using simulations. A performance antenna with radiation efficiency of 99.35%, gain of 22 dBi, width of radiation pattern of 3.2 $$^{\circ }$$∘, and side lobe level (SLL) of$${-}$$- 18.3 dB has been achieved.
Dynamic visual SLAM and MEC technologies for B5G: a comprehensive review
Authors: Peng Jiansheng , Hou Yaru , Xu Hengming , Li Taotao 
Published: October 2022

AbstractIn recent years, dynamic visual SLAM techniques have been widely used in autonomous navigation, augmented reality, and virtual reality. However, the increasing demand for computational resources by SLAM techniques limits its application on resource-constrained mobile devices. MEC technology combined with 5G ultra-dense networks enables complex computational tasks in visual SLAM systems to be offloaded to edge computing servers, thus breaking the resource constraints of terminals and meeting real-time computing requirements. This paper firstly introduces the research results in the field of visual SLAM in detail through three categories: static SLAM, dynamic SLAM, and SLAM techniques combined with deep learning. Secondly, the three major parts of the technology comparison between mobile edge computing and mobile cloud computing, 5G ultra-dense networking technology, and MEC and UDN integration technology are introduced to sort out the basic technologies related to the application of 5G ultra-dense network to offload complex computing tasks from visual SLAM systems to edge computing servers.
A multi-task learning framework for efficient grammatical error correction of textual messages in mobile communications
Authors: Pan Fayu , Cao Bin , Fan Jing 
Published: October 2022

AbstractIn mobile communications, plenty of textual messages need to be transmitted and processed rapidly. However, messages usually contain noise, which will affect the performance of related applications. Thus, we investigate grammatical error correction (GEC) to correct errors in messages. Unlike recent works, we focus on improving the efficiency of GEC because low time delay is significant in mobile communications. We propose a novel multi-task learning approach to GEC by detecting errors first and then making corrections. Two classifiers are used to serially detect sentence-level and token-level errors, so the correct content can be free from correction operations. We adapt a non-autoregressive decoder to parallelly generate corrected tokens, making the correction stage efficient. Experiments show that our approach is ten times faster than the traditional approach and can achieve a comparable GEC performance.
Interaction analysis of lipid accumulation product and family history of diabetes on impaired fasting glucose and diabetes risk in population with normotension in Eastern China: a community-based cross-sectional survey
Authors: Shu Li , Zhao Yingying , Shen Yanqi , Jia Linlin , Zhang Jiaye 
Published: October 2022

AbstractBackgroundLipid accumulation product (LAP) is considered to be a new convenient useful indicator to assess the visceral fat. Therefore, we aimed to evaluate the risk factors of impaired fasting glucose (IFG) and diabetes, and explore the possible interacting influences of LAP with other factors on the risk of IFG and diabetes among Chinese normotension adults.MethodsA multistage stratified cluster sampling method was conducted to select urban residents in Bengbu, China. For each eligible participant, data on questionnaire survey, anthropometric measurements and laboratory tests were obtained. The effects of body mass index (BMI), waist circumference (WC), waist to height ratio (WHtR) and LAP for predicting IFG and diabetes were performed by multiple logistic regressions and receiver operating characteristic (ROC) analyses. The interaction effects were evaluated by relative excess risk of interaction (RERI), attributable proportion due to interaction (AP) and synergy index (SI).ResultsSix thousand, four hundred sixty-seven normotension subjects (2695 men and 3772 women) were enrolled in our study, the prevalence of IFG and diabetes were 9.37% and 14.33%, respectively. When assessed using ROC curve analysis, LAP exhibited higher diagnostic accuracy for identifying IFG and diabetes than BMI, the area under the AUC curve was 0.650 (95% CI: 0.637 to 0.662). After adjustment for age, sex, educational level and other confounding factors, multivariate logistic regression analyses indicated that subjects with the fourth quartile of LAP were more likely to develop IFG (adjusted OR: 2.735, 95% CI: 1.794–4.170) and diabetes (adjusted OR: 1.815, 95% CI: 1.297–2.541) than those with the first quartile. A significant interaction between LAP and family history of diabetes was observed in participants (RERI = 1.538, 95%CI: 0.167 to 3.612; AP = 0.375, 95%CI: 0.118 to 0.631; SI = 1.980, 95%CI: 1.206 to 3.251). However, a significant interaction between LAP and abdominal obesity was indicated by the value of RERI (1.492, 95%CI: 0.087 to 3.723) and AP (0.413, 95%CI: 0.014 to 0.756), but not the value of SI (1.824, 95%CI: 0.873 to 3.526).ConclusionOur results demonstrated that there might be synergistic effect between LAP and family history of diabetes on the risk of IFG and diabetes.
Modified Artificial Neural Networks and Support Vector Regression to Predict Lateral Pressure Exerted by Fresh Concrete on Formwork
Authors: Kandiri Amirreza , Shakor Pshtiwan , Kurda Rawaz , Deifalla Ahmed Farouk 
Published: October 2022

AbstractIn this study, a modified Artificial Neural Network (ANN) and Support Vector Regression (SVR) with three different optimization algorithms (Genetic, Salp Swarm and Grasshopper) were used to establish an accurate and easy-to-use module to predict the lateral pressure exerted by fresh concrete on formwork based on three main inputs, namely mix proportions (cement content, w/c, coarse aggregates, fine aggregates and admixture agent), casting rate, and height of specimens. The data have been obtained from 30 previously piloted experimental studies (resulted 113 samples). Achieved results for the model including all the input data provide the most excellent prediction of the exerted lateral pressure. Additionally, having different magnitudes of powder volume, aggregate volume and fluid content in the mix exposes different rising and descending in the lateral pressure outcomes. The results indicate that each model has its own advantages and disadvantages; however, the root mean square error values of the SVR models are lower than that of the ANN model. Additionally, the proposed models have been validated and all of them can accurately predict the lateral pressure of fresh concrete on the panel of the formwork.
Blowing in the wind? Testing the effect of weather on the spatial distribution of crime using Generalized Additive Models
Authors: Hart Rannveig , Pedersen Willy , Skardhamar Torbjørn 
Published: October 2022

AbstractOslo, the capital of Norway, is situated in a North European cool climate zone. We investigate the effect of weather on the overall level of crime in the city, as well as the impact of different aspects of weather (temperature, wind speed, precipitation) on the spatial distribution of crime, net of both total level of crime, time of day and seasonality. Geocoded locations of criminal offences were combined with data on temperature, wind speed, and precipitation. Generalized Additive Models (GAMs) allowed us to map level of and the spatial distribution of crime, and how it was impacted by weather, in a more robust manner than in previous studies. There was slightly more crime in pleasurable weather (i.e. low precipitation and wind speed and high temperatures). However, neither temperature, precipitation nor wind speed impacted the spatial distribution of crime in the city.
Evaluation of closed-loop U-Tube deep borehole heat exchanger in the Basal Cambrian Sandstone formation, Alberta, Canada
Authors: Chong Qinwan , Wang Jingyi , Gates Ian D. 
Published: October 2022

AbstractClosed-loop deep borehole heat exchanger (DBHE) systems for producing heat from geothermal sources have the advantage that the heat transfer fluid is contained within the loop. In this study, for the first time, a U-configuration closed-loop DBHE was examined to evaluate the energy produced per unit energy invested from a 2330-m-deep geothermal reservoir in central Alberta, Canada. A detailed earth model where the system is modeled from the surface to the geothermal source is used in a numerical simulation model to understand the efficiency of the process. The results reveal that the fluid flow reaches its highest temperature in the ascending section of the U-loop rather than the bottom section which implies that the insulation on the working fluid should start in the ascending section of the U-loop. The results demonstrate that the closed-loop system can achieve ratios of the energy produced and energy invested of 7 GJ/GJ. Although this efficiency is promising, the absolute amount of heat energy harvested is limited by the loop’s heat transfer area in the geothermal reservoir.
Geothermal resources assessment using temperature–depth relationships in the fault-controlled hydrothermal system of Aristino-Traianoupolis area, Northern Greece
Authors: Dalampakis P. , Papachristou M. , Neofotistos P. 
Published: October 2022

AbstractAristino-Traianoupolis area hosts one of the most significant water-dominated low-temperature geothermal fields in Greece. It is located on the southwestern uplifted margin of the Tertiary Evros Delta molassic basin, 10 km east of the town of Alexandroupolis (Thrace, NE Greece). The upper hydrothermal system of the Aristino Geothermal Field (AGF), one of the most promising in continental Greece, contains fluids with temperatures ranging from 51 to 99 °C, within a series of overlapping aquifers at very low depths (100–430 m). The main geothermal anomaly for temperatures higher than 90 °C covers an area of 6 km2, to a maximum prospected depth of 500 m below ground surface. The scattered regional anomaly exceeds 50 km2 and is characterized by excessively high and abruptly changing thermal gradient (42 to 450 °C/km) and heat flow (80–800 mW/m2), that are both typical of a fault-controlled hydrothermal system. Since 1993, the AGF has undergone non-systematic geothermal investigation, with emphasis on low-depth (100–500 m) drilling. This paper provides, for the first time, a synthetic and detailed evaluation of all available temperature data gathered in the last 25 years. The steady-state temperature logs reveal the dominant role of conduction for the upper geothermal system, accompanied, in most cases, by rapidly changing and abnormally high thermal gradients (100–450 °C/km), triggered, most probably, by a deeper system of higher temperature. This hypothesis is also supported by the applied chemical geothermometers, which suggest initial fluid temperatures at 140–150 °C, the hydrochemical characteristics of the fluids hosted in the deeper and most promising investigated reservoir (ignimbrite) of the upper system, and the extrapolated temperatures from the conductive temperature–depth profiles. The lower widespread medium enthalpy hydrothermal system should extend at depths 500–1000 m within volcanics and the expected Eocene limestones and basal clastic series of the Tertiary sequence that have filled the basin. Nevertheless, these assumptions need to be verified by appropriate investigations and new drillings at depths greater than 600–700 m, which would confirm the presence of a productive medium enthalpy reservoir.
The pteropod species Heliconoides inflatus as an archive of late Pleistocene to Holocene environmental conditions on the Northwest Shelf of Australia
Authors: Hallenberger Maximilian , Reuning Lars , Takayanagi Hideko , Iryu Yasufumi , Keul Nina , Ishiwa Takeshige , Yokoyama Yusuke 
Published: October 2022

AbstractThere is growing interest in the use of pteropods as potential archives of past changes in ocean chemistry. However, pteropods have rarely been used in studies of millennial-scale sedimentary records, especially in shallow-marine environments. This study obtained core data for the last 16 kyr from the Northwest Shelf of Australia (NWS). Changes in the carbonate saturation state were assessed based on the carbon isotope ratios (δ13C) of shells and the Limacina dissolution index (LDX) measured on the planktonic pteropod species Heliconoides inflatus. In addition, the calcification depth of the pteropods was estimated based on oxygen isotope values (δ18O) of pteropod shells and seawater. Our findings indicate that H. inflatus calcifies at a depth of 95–140 m. This confirms that H. inflatus records a shallow-marine signal on the NWS. The δ13C values of the pteropods record a notable decrease in carbonate ion concentrations after 8.5 ka. This decrease is associated with the post-glacial onset of humid conditions on the NWS. The studied pteropod shells are pristine throughout the 16 kyr section and have low LDX values. Therefore, the LDX proxy appears to lack the sensitivity to be applicable in this highly supersaturated, shallow-marine environment. Until this study, proxies derived from H. inflatus have been exclusively utilized in open-marine settings. Our results indicate that the δ13C values of H. inflatus also represent a useful proxy for carbonate ion concentrations in shallow-marine environments.