bluuebunny/crossref_metadata_2025_split huggingface dataset:
Characteristics and clinical evaluation of X chromosome translocations
Authors: Huang Ning , Zhou Jihui , Lu Wan , Luo Laipeng , Yuan Huizhen , Pan Lu , Ding Shujun , Yang Bicheng , Liu Yanqiu 
Published: December 2023

Abstract
Background
Individuals with X chromosomal translocations, variable phenotypes, and a high risk of live birth defects are of interest for scientific study. These characteristics are related to differential breakpoints and various types of chromosomal abnormalities. To investigate the effects of X chromosome translocation on clinical phenotype, a retrospective analysis of clinical data for patients with X chromosome translocation was conducted. Karyotype analysis plus endocrine evaluation was utilized for all the patients. Additional semen analysis and Y chromosome microdeletions were assessed in male patients.

Results
X chromosome translocations were detected in ten cases, including seven females and three males. Infantile uterus and no ovaries were detected in case 1 (FSH: 114 IU/L, LH: 30.90 mIU/mL, E2: < 5.00 pg/ml), and the karyotype was confirmed as 46,X,t(X;22)(q25;q11.2) in case 1. Infantile uterus and small ovaries were both visible in two cases (FSH: 34.80 IU/L, LH: 17.06 mIU/mL, E2: 15.37 pg/ml in case 2; FISH: 6.60 IU/L, LH: 1.69 mIU/mL, E2: 23.70 pg/ml in case 3). The karyotype was detected as 46,X,t(X;8)(q13;q11.2) in case 2 and 46,X,der(X)t(X;5)(q21;q31) in case 3. Normal reproductive hormone levels and fertility abilities were found for cases 4, 6 and 7. The karyotype were detected as 46,X,t(X;5)(p22.3;q22) in case 4 and 46,X,der(X)t(X;Y)(p22.3;q11.2) in cases 6 and 7. These patients exhibited unremarkable clinical manifestations but experienced a history of abnormal chromosomal pregnancy. Normal phenotype and a complex reciprocal translocation as 46,X,t(X;14;4)(q24;q22;q33) were observed in case 5 with a history of spontaneous abortions. In the three male patients, multiple semen analyses confirmed the absence of sperm. Y chromosome microdeletion and hormonal analyses were normal. The karyotypes were detected as 46,Y,t(X;8)(q26;q22), 46,Y,t(X;1)(q26;q23), 46,Y,t(X;3)(q26;p24), respectively.

Conclusions
Our study provides insights into individuals with X chromosome translocations. The clinical phenotypes are variable and unpredictable due to differences in breakpoints and X chromosome inactivation (XCI) patterns. Our results suggest that physicians should focus on the characteristics of the X chromosome translocations and provide personalized clinical evaluations in genetic counselling.
ENGEP: advancing spatial transcriptomics with accurate unmeasured gene expression prediction
Authors: Yang Shi-Tong , Zhang Xiao-Fei 
Published: December 2023

AbstractImaging-based spatial transcriptomics techniques provide valuable spatial and gene expression information at single-cell resolution. However, their current capability is restricted to profiling a limited number of genes per sample, resulting in most of the transcriptome remaining unmeasured. To overcome this challenge, we develop ENGEP, an ensemble learning-based tool that predicts unmeasured gene expression in spatial transcriptomics data by using multiple single-cell RNA sequencing datasets as references. ENGEP outperforms current state-of-the-art tools and brings biological insight by accurately predicting unmeasured genes. ENGEP has exceptional efficiency in terms of runtime and memory usage, making it scalable for analyzing large datasets.
Precision nephrotoxicity testing using 3D in vitro models
Authors: Yu Pengfei , Zhu Hainan , Bosholm Carol Christine , Beiner Daniella , Duan Zhongping , Shetty Avinash K. , Mou Steve S. , Kramer Philip Adam , Barroso Luis F. , Liu Hongbing , Cheng Kun , Ihnat Michael , Gorris Matthew A. , Aloi Joseph A. , Woldemichael Jobira A. , Bleyer Anthony , Zhang Yuanyuan 
Published: December 2023

AbstractNephrotoxicity is a significant concern during the development of new drugs or when assessing the safety of chemicals in consumer products. Traditional methods for testing nephrotoxicity involve animal models or 2D in vitro cell cultures, the latter of which lack the complexity and functionality of the human kidney. 3D in vitro models are created by culturing human primary kidney cells derived from urine in a 3D microenvironment that mimics the fluid shear stresses of the kidney. Thus, 3D in vitro models provide more accurate and reliable predictions of human nephrotoxicity compared to existing 2D models. In this review, we focus on precision nephrotoxicity testing using 3D in vitro models with human autologous urine-derived kidney cells as a promising approach for evaluating drug safety.
Increased rates of unattained developmental milestones among Israeli children between 2016 and 2020: a national report
Authors: Girshovitz Irena , Amit Guy , Goldshtein Inbal , Zimmerman Deena R. , Baruch Ravit , Akiva Pinchas , Avgil Tsadok Meytal , Sadaka Yair 
Published: December 2023

Abstract
Background
The early years of children’s lives are critical for their healthy development. Although children’s growth and development rates may vary, a significant delay during early childhood could indicate a medical or a developmental disorder. Developmental surveillance is used worldwide by healthcare providers in routine encounters, as well as by educators and parents, to elicit concerns about child development. In this work, we used a national dataset of developmental assessments to describe temporal trends of milestone attainment rates and associations between milestone attainment and various sociodemographic factors.

Methods
The study included 1,002,700 children ages birth until 6 years with 4,441,689 developmental visits between the years 2016 and 2020. We used the Israeli developmental scale to assess the annual rates of failure to attain language, social and motoric milestones by the entire population, as well as by subgroups stratified by sociodemographic factors. In addition, we evaluated the rates of parental concern for child development and of the nurse’s report of development inadequate for age. We used multivariable logistic regression to analyze the impact of different sociodemographic factors on the odds of failure to attain milestones, while controlling for confounding.

Results
Milestone failure rates progressively increased over the examined years in all developmental domains, and most prominently in the language domain. Conversely, the rates of parental concern for developmental delay remained constant. In multivariable analysis, higher risk of milestone attainment failure was observed in children whose mothers were divorced, unemployed, immigrant, had lower education, of Bedouin origin or were over 40 years old when giving birth.

Conclusions
This report describes national trends of child development in the gross motor, fine motor, language, and social domains. A periodic report of these trends should be published to objectively evaluate subgroups in need for intervention, and to assess the effectiveness of intervention programs in attempt to maximize the developmental potential of children in Israel.
RF fingerprint extraction and device recognition algorithm based on multi-scale fractal features and APWOA-LSSVM
Authors: Feng Wenjiang , Li Yuan , Wu Chongchong , Zhang Juntao 
Published: December 2023

AbstractRF fingerprints can be used for device identification and network access authentication. An RF fingerprint extraction and device identification algorithm based on multi-scale fractal features and APWOA-LSSVM is proposed. First, a Hilbert transform is performed on the original RF signal, and differential operations are performed on the I/Q signal. Then, the variational modal decomposition is performed on the differentially processed I/Q signals separately to obtain a number of band-limited Intrinsic Modal Function (IMF) components. The fractal box dimension of each IMF component is calculated separately as the first-dimensional RF fingerprint. The multi-fractal spectrum of the original RF signal is further computed by Multi-fractal Detrended Fluctuation Analysis (MFDFA) as the second-dimensional RF fingerprint. The RF fingerprint feature vector consists of a combination of the first- and second-dimensional RF fingerprints and is used to train the LSSVM model. Since the penalty factor and kernel parameter width directly affect the recognition accuracy and generalization ability of the LSSVM model, APWOA is used to optimize the hyperparameters of the LSSVM model. Finally, the LSSVM model is constructed using the optimal hyperparameters and the performance of the model is verified on a test dataset. The experimental results show that the proposed model achieves an average recognition accuracy of 99.13$$\%$$
%
for 16 Bluetooth devices. Multi-scale fractal features consisting of fractal box dimensions and multiple fractal dimensions are more beneficial in the recognition of wireless devices as compared to single features. In addition, the proposed model possesses superior recognition capabilities when compared to classical machine learning algorithms.
Driving factors of tree biomass and soil carbon pool in xerophytic forests of northeastern Argentina
Authors: Sione Silvana María José , Wilson Marcelo Germán , Ledesma Silvia Gabriela , Gabioud Emmanuel Adrián , Oszust José Daniel , Rosenberger Leandro Javier 
Published: December 2023

Abstract
Background
The conversion of forests into agricultural lands can be a threat because the forests carbon stored could be a source of emissions. The capacity to improve the predictions on the consequences of land use change depends on the identification of factors that influence carbon pools. We investigated the key driving factors of tree biomass and soil carbon pools in xerophytic forests in northeastern Argentina. Based on analyses of forest structure variables and abiotic factors (topography and soil properties) from 18 mature forests, we evaluated carbon pools using uni- and multivariate (redundancy analysis) methods.

Results
The total carbon pool was estimated at 102.4 ± 24.0 Mg ha−1. Soil organic carbon storage is the single largest carbon pool relative to tree biomass, representing 73.1% of total carbon. Tree canopy cover and basal area were positively correlated with biomass carbon pool (r = 0.77 and r = 0.73, p < 0.001, respectively), proving to be significant drivers of carbon storage in this compartment. Slope, soil clay content and cation-exchange capacity had a better explanation for the variability in soil carbon pools, and all showed significant positive correlations with soil carbon pools (r = 0.64, 0.60 and 0.50; p < 0.05, respectively). The vertisols showed a 27.8% higher soil carbon stock than alfisols.

Conclusions
The relevance of our study stems from a dearth of information on carbon pools and their drivers in xerophytic forests, and in particular, the importance of this ecosystems’ type for Argentina, because they cover 81.9% of native forest area. Basal area and tree canopy cover exert a strong effect on the carbon pool in tree biomass but not in the soil. The results suggests that there is a potentially major SOC accumulation in forests located in slightly sloping areas and soils with higher topsoil clay content, such as vertisols. This could provide an important reference for implementing forestry carbon sink projects.
Personality traits empower entrepreneurial intention of generation Z in Sri Lanka
Authors: Weligodapola Mano , Weerarathna Ranitha Sachinthana , Hansini Kariyawasam Godage Kavindya , Ravini Pallimulle Hewa Geeganage Wathma , Sarathchandra Wijendra Gamladdalage Tharindu Priy , Samarathunga Samarathunga Muhandiramge Dona Pium 
Published: December 2023

AbstractEntrepreneurship has a critical role in making society more creative and conscience. Entrepreneurial Intention (EI) guided and supported to build job creators, innovations, and entrepreneurial mindset to foster both men and women entrepreneurial spirit. Youth generation also plays a significant role in economic growth of country. The research predominantly aimed to identify and measure the influence of personality traits on the EI of generation Z in Sri Lanka. The primary cause for concern is the rising demand for entrepreneurs who can spur economic growth by developing fresh concepts and turning them into successful ventures. The present study investigates the impact of the big five personality traits on EI. The study used both quantitative and qualitative approaches. In the qualitative survey, the data collected from eight semi-structured interviews were analyzed using the thematic analysis and NVivo tool. The quantitative survey used a cluster sample of generation Z in the Colombo district, Sri Lanka. A total of 384 valid questionnaires were received and examined. To test the hypotheses, the researchers used Smart PLS software (version 4.0) and the Structure Equation Model technique. The result showed that Conscientiousness, and Neuroticism significantly impact on the EI of generation Z. Further, Extraversion, Agreeableness and Openness to Experience have an insignificant impact on EI. The study gives policymakers and the government advice on how to understand the characteristics of generation Z, which are likely to become future entrepreneurs, and how to support new businesses by providing various incentives.
Gut microbiota intervention attenuates thermogenesis in broilers exposed to high temperature through modulation of the hypothalamic 5-HT pathway
Authors: Li Sheng , Li Xiaoqing , Wang Kai , Li Yansen , Nagaoka Kentaro , Li Chunmei 
Published: December 2023

Abstract
Background
Broilers have a robust metabolism and high body temperature, which make them less tolerant to high-temperature (HT) environments and more susceptible to challenges from elevated temperatures. Gut microbes, functioning as symbionts within the host, possess the capacity to significantly regulate the physiological functions and environmental adaptability of the host. This study aims to investigate the effects of gut microbial intervention on the body temperature and thermogenesis of broilers at different ambient temperatures, as well as the underlying mechanism involving the "gut-brain" axis.

Methods
Broilers were subjected to gut microbiota interference with or without antibiotics (control or ABX) starting at 1 day of age. At 21 day of age, they were divided into 4 groups and exposed to different environments for 7 d: The control and ABX groups at room temperature (RT, 24 ± 1 °C, 60% relative humidity (RH), 24 h/d) and the control-HT and ABX-HT groups at high temperature (HT, 32 ± 1 °C, 60% RH, 24 h/d).

Results
The results demonstrated that the antibiotic-induced gut microbiota intervention increased body weight and improved feed conversion in broiler chickens (P < 0.05). Under HT conditions, the microbiota intervention reduced the rectal temperature of broiler chickens (P < 0.05), inhibited the expression of avUCP and thermogenesis-related genes in breast muscle and liver (P < 0.05), and thus decreased thermogenesis capacity. Furthermore, the gut microbiota intervention blunted the hypothalamic‒pituitary‒adrenal axis and hypothalamic–pituitary–thyroid axis activation induced by HT conditions. By analyzing the cecal microbiota composition of control and ABX chickens maintained under HT conditions, we found that Alistipes was enriched in control chickens. In contrast, antibiotic-induced gut microbiota intervention resulted in a decrease in the relative abundance of Alistipes (P < 0.05). Moreover, this difference was accompanied by increased hypothalamic 5-hydroxytryptamine (5-HT) content and TPH2 expression (P < 0.05).

Conclusions
These findings underscore the critical role of the gut microbiota in regulating broiler thermogenesis via the gut-brain axis and suggest that the hypothalamic 5-HT pathway may be a potential mechanism by which the gut microbiota affects thermoregulation in broilers.

Graphical Abstract
Unsupervised machine learning identifies distinct ALS molecular subtypes in post-mortem motor cortex and blood expression data
Authors: Marriott Heather , Kabiljo Renata , Hunt Guy P , Khleifat Ahmad Al , Jones Ashley , Troakes Claire ,   Project MinE ALS Sequencing Consortium,   TargetALS Sequencing Consortium, Pfaff Abigail L , Quinn John P , Koks Sulev , Dobson Richard J , Schwab Patrick , Al-Chalabi Ammar , Iacoangeli Alfredo 
Published: December 2023

AbstractAmyotrophic lateral sclerosis (ALS) displays considerable clinical and genetic heterogeneity. Machine learning approaches have previously been utilised for patient stratification in ALS as they can disentangle complex disease landscapes. However, lack of independent validation in different populations and tissue samples have greatly limited their use in clinical and research settings. We overcame these issues by performing hierarchical clustering on the 5000 most variably expressed autosomal genes from motor cortex expression data of people with sporadic ALS from the KCL BrainBank (N = 112). Three molecular phenotypes linked to ALS pathogenesis were identified: synaptic and neuropeptide signalling, oxidative stress and apoptosis, and neuroinflammation. Cluster validation was achieved by applying linear discriminant analysis models to cases from TargetALS US motor cortex (N = 93), as well as Italian (N = 15) and Dutch (N = 397) blood expression datasets, for which there was a high assignment probability (80–90%) for each molecular subtype. The ALS and motor cortex specificity of the expression signatures were tested by mapping KCL BrainBank controls (N = 59), and occipital cortex (N = 45) and cerebellum (N = 123) samples from TargetALS to each cluster, before constructing case-control and motor cortex-region logistic regression classifiers. We found that the signatures were not only able to distinguish people with ALS from controls (AUC 0.88 ± 0.10), but also reflect the motor cortex-based disease process, as there was perfect discrimination between motor cortex and the other brain regions. Cell types known to be involved in the biological processes of each molecular phenotype were found in higher proportions, reinforcing their biological interpretation. Phenotype analysis revealed distinct cluster-related outcomes in both motor cortex datasets, relating to disease onset and progression-related measures. Our results support the hypothesis that different mechanisms underpin ALS pathogenesis in subgroups of patients and demonstrate potential for the development of personalised treatment approaches. Our method is available for the scientific and clinical community at https://alsgeclustering.er.kcl.ac.uk.
Transdiagnostic skills training group of dialectical behavior therapy: a long-term naturalistic study
Authors: Durpoix Amaury , Lachaux Enzo , Weiner Luisa , Weibel Sébastien 
Published: December 2023

Abstract
Introduction
Dialectical Behavior Therapy (DBT) has assembled a large body of evidence for the treatment of emotional dysregulation in borderline personality disorder (BPD), but also in other disorders characterized by emotional dysregulation (e.g., bipolar disorder (BD) and ADHD). Standalone skills learning groups address the problem of limited resources in several clinical settings. Furthermore, transdiagnostic skills groups facilitate the recruitment and decrease the scattering of resources in psychiatric settings. However, few studies have focused on the pertinence of transdiagnostic standalone skills groups in naturalistic settings as well as their long-term outcomes. The goal of this study is to assess the impact of participation in a transdiagnostic DBT skills group one year after its completion.

Method
Transdiagnostic DBT skills training groups were provided for BPD, BD and ADHD patients in a University Psychiatric Department (Strasbourg, France), between 2019 and 2020. They consisted of 16 group sessions of 2.5 h and 3 individual sessions. At 1-year follow-up, ad-hoc questionnaires were proposed to all participants to assess the perceived impacts, the changes in symptomatology, and the maintenance of skills learned.

Result
22 of the 31 participants were interviewed at the one-year post-group session (64% BPD, 41% ADHD and 27% BD). 73% participants estimated that group impact was important or very important, 64% stated using the skills learned often or very often, mainly emotion regulation skills. An improvement in emotional instability, substance use, impulsivity and suicidal thoughts was reported by respectively 100%, 91%, 86% and 85% of participants. Quality of life improved according to 90% participants. All patients reported an improvement in suicidality during the post-group year, especially in suicide attempts. Psychotropic medication decreased in 59% of participants.

Discussion
Our one-year naturalistic study suggests that transdiagnostic DBT skills training groups are promising for the treatment of emotional dysregulation in people with BPD, BD and/or ADHD. The observational design and the lack of control group are the main limitations. Randomized controlled studies are required to confirm the long-term efficacy of transdiagnostic skills learning groups in naturalistic settings.
A service-categorized security scheme with physical unclonable functions for internet of vehicles
Authors: Halima Nadhir Ben , Alluhaidan Ala Saleh , Khan Mohammad Zunnun , Husain Mohd Shahid , Khan Mohammad Ayoub 
Published: December 2023

AbstractIn smart cities, communication and information exchange for the Internet of Vehicles rely on open and closed infrastructures along the roadside. Secure communications rely on the sender and receiver devices having self-sustaining authentication methods. The perquisites of the authentication methods are to grip communication without being falsified by an adversary or unidentified third parties. This article introduces the Service-Categorized Security Scheme (SCSS) with a physically unclonable function (PUF) for handling sensitive guidance/communication information. The vehicle-side authentication, access control, and service demands are governed using service-based PUF factors such as digital signatures, passwords, etc. To prevent anonymous third parties and adversaries, the PUF operates over compromised and uncompromised communication devices. Device-specific keys generated by PUFs based on intrinsic physical variances help identify between compromised and uncompromised devices, while keys generated by uncompromised devices conform to their expected profiles In the service-sharing process, mutual authentication using synchronized keys is used for security and service verification. The synchronized keys are integrated with the PUF for monitoring de-synchronization and individual operation. This decision is made using federated learning from the external service provider and the communicator of the vehicle. Through the learning process, a de-synchronization occurrence at the service provider and vehicle is identified as the reason for disconnecting the session. As a result, any suspicious activity that contradicts service security is identified, and the information of the communicating vehicle is secured. The proposed scheme is analyzed using the metrics authentication time, adversary detection ratio, complexity, de-synchronization time, and successful sessions.