bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders
Authors: Dong Liling , Shang Li , Liu Caiyan , Mao Chenhui , Huang Xinying , Chu Shanshan , Peng Bin , Cui Liying , Gao Jing 
Published: November 2023

Abstract
Background
The pediatric genetic white matter disorders are characterized by a broad disease spectrum. Genetic testing is valuable in the diagnosis. However, there are few studies on the clinical and genetic spectrum of Chinese pediatric genetic white matter disorders.

Methods
The participants were enrolled from the cohort of Peking Union Medical College Hospital. They all received history collection, brain MRI and gene sequencing. Their neurologic complaints which were related to white matter disorders occurred before 18. Brain MRI indicated periventricular and/or deep white matter lesions, fazekas grade 2–3.

Results
Among the 13 subjects, there were 11 males and two females. The average age of onset was 10.0 ± 5.5 years old. The potential genetic variants were found in 84.6% (11/13) subjects. The ABCD1 showed the greatest mutation frequency (30.8%, 4/13). The EIF2B3 A151fs, EIF2B4 c.885 + 2T > G, EIF2B5 R129X and MPV17 Q142X were novel pathogenic/likely pathogenic variants. 100% (4/4) ABCD1 carriers were accompanied by visual impairment, whereas 100% (3/3) EIF2B carriers developed dysuria. 100% (4/4) ABCD1 carriers exhibited diffuse white matter hyperintensities mainly in the posterior cortical regions, while the EIF2B4 and EIF2B5 carriers were accompanied by cystic degeneration.

Conclusion
There is genotypic and phenotypic heterogeneity among Chinese subjects with pediatric genetic white matter disorders. The knowledge of these clinical and genetic characteristics facilitates an accurate diagnosis of these diseases.
Impact of social isolation during COVID-19 on anthropometric data, quality of life, baseline physical activity and aortic pulse wave parameters in children and adolescents in two independent samples
Authors: Godoy-Leite Mariana , Santos Fernanda Gabriela Colombo Drumond , Penido Eduardo Augusto Resende , Ribeiro Kennad Alves , dos Santos Luzia Maria , Rodrigues-Machado Maria da Gloria , Rezende Bruno Almeida 
Published: November 2023

Abstract
Background
The social restrictions resulting from the COVID-19 pandemic had a great impact on the routine of children and adolescents, with important consequences such as sleep, eating, and psychological/psychiatric disorders. Even though there are no studies on the subject, it is possible that these changes in habit and routine have also affected arterial stiffness (AS) in this population, which is an important predictor of cardiovascular risk. This study aimed to assess possible changes in AS, anthropometry, and quality of life (QoL) resulting from the COVID-19 pandemic in children and adolescents.

Methods
A controlled observational cross-sectional study was performed with 193 children and adolescents aged 9 to 19 years, allocated into two groups: before the pandemic (BPG) and one year after the pandemic (APG), matched by age and sex. Cardiovascular parameters were measured non-invasively by brachial artery oscillometry with a portable device. The main AS indices evaluated were the augmentation index (AIx) and pulse wave velocity (PWV) derived from the aortic pulse wave. QoL was assessed using the Paediatric Quality of Life Inventory version 4.0 (PedsQL 4.0).

Results
Regarding QoL, the APG showed a worsening in emotional (p = 0.002) and school-related (p = 0.010) aspects. There was no statistically significant difference for most anthropometric parameters, except for the hip circumference, which was higher in the APG group (p < 0.001). The main predictor of AS in the paediatric population, AIx@75, was shown to be increased in the APG group (p < 0.001). Other cardiovascular parameters were also different, such as peripheral (p = 0.002) and central (p = 0.003) diastolic blood pressure, stroke volume (p = 0.010), and total vascular resistance (p = 0.002), which were shown to be decreased in the APG group, while the heart rate was increased (p < 0.001).

Conclusions
Our results show that routine changes resulting from the period of social isolation increased cardiovascular risk in children and adolescents, evident by the increase in AIx@75, which is considered to be an important marker of cardiovascular risk in the paediatric population.
Thiazolopyrimidine derivatives as novel class of small molecule tyrosinase inhibitor
Authors: Ghasemi Nastaran , Moradi Shahram , Iraji Aida , Mahdavi Mohammad 
Published: November 2023

AbstractTyrosinase, the rate-limiting enzyme of melanogenesis, plays a crucial role in hyperpigmentation. As a result, in this study, a novel class of thiazolopyrimidine derivatives was developed and synthesized as tyrosinase inhibitor. The structure of derivatives was characterized using various spectroscopy techniques, including FTIR, Mass, 1H-NMR, and 13C-NMR. Next, the inhibitory activities of all derivatives were examined against tyrosinase, and, 6a as the most potent compound, exhibited an IC50 value of 28.50 µM. Furthermore, the kinetic study of 6a was performed to better understand the inhibitory mechanism and its type of inhibition. The UV/Vis spectra analysis was also executed to provide valuable evidence supporting the inhibitory mechanism of compound 6a in the context of tyrosinase inhibition. Also, molecular docking and dynamic molecular study of 6a were executed to study its interactions within the enzyme’s binding site.
Association of sex-specific abdominal adipose tissue with WHO/ISUP grade in clear cell renal cell carcinoma
Authors: Li Shichao , Liao Zhouyan , He Kangwen , Shen Yaqi , Hu Shan , Li Zhen 
Published: November 2023

Abstract
Objectives
To explore the association between computed tomography (CT)-measured sex-specific abdominal adipose tissue and the pathological grade of clear cell renal cell carcinoma (ccRCC).

Methods
This retrospective study comprised 560 patients (394 males and 166 females) with pathologically proven ccRCC (467 low- and 93 high-grade). Abdominal CT images were used to assess the adipose tissue in the subcutaneous, visceral, and intermuscular regions. Subcutaneous fat index (SFI), visceral fat index (VFI), intermuscular fat index (IFI), total fat index (TFI), and relative visceral adipose tissue (rVAT) were calculated. Univariate and multivariate logistic regression analyses were performed according to sex to identify the associations between fat-related parameters and pathological grade.

Results
IFI was significantly higher in high-grade ccRCC patients than in low-grade patients for both men and women. For male patients with high-grade tumors, the SFI, VFI, TFI, and rVAT were significantly lower, but not for female patients. In both univariate and multivariate studies, the IFI continued to be a reliable and independent predictor of high-grade ccRCC, regardless of sex.

Conclusions
Intermuscular fat index proved to be a valuable biomarker for the pathological grade of ccRCC and could be used as a reliable independent predictor of high-grade ccRCC for both males and females.

Critical relevance statement
Sex-specific fat adipose tissue can be used as a new biomarker to provide a new dimension for renal tumor-related research and may provide new perspectives for personalized tumor management decision-making approaches.

Key points
• There are sex differences in distribution of subcutaneous fat and visceral fat.
• The SFI, VFI, TFI, and rVAT were significantly lower in high-grade ccRCC male patients, but not for female patients.
• Intermuscular fat index can be used as a reliable independent predictor of high-grade ccRCC for both males and females.

Graphical Abstract
Radiomic analysis will add differential diagnostic value of benign and malignant pulmonary nodules: a hybrid imaging study based on [18F]FDG and [18F]FLT PET/CT
Authors: Ning Jing , Li Can , Yu Peng , Cui Jingjing , Xu Xiaodan , Jia Yan , Zuo Panli , Tian Jiahe , Kenner Lukas , Xu Baixuan 
Published: November 2023

Abstract
Purpose
To investigate the clinical value of radiomic analysis on [18F]FDG and [18F]FLT PET on the differentiation of [18F]FDG-avid benign and malignant pulmonary nodules (PNs).

Methods
Data of 113 patients with inconclusive PNs based on preoperative [18F]FDG PET/CT who underwent additional [18F]FLT PET/CT scans within a week were retrospectively analyzed in the present study. Three methods of analysis including visual analysis, radiomic analysis based on [18F]FDG PET/CT images alone, and radiomic analysis based on dual-tracer PET/CT images were evaluated for differential diagnostic value of benign and malignant PNs.

Results
A total of 678 radiomic features were extracted from volumes of interest (VOIs) of 123 PNs. Fourteen valuable features were thereafter selected. Based on a visual analysis of [18F]FDG PET/CT images, the diagnostic accuracy, sensitivity, and specificity were 61.6%, 90%, and 28.8%, respectively. For the test set, the area under the curve (AUC), sensitivity, and specificity of the radiomic models based on [18F]FDG PET/CT plus [18F]FLT signature were equal or better than radiomics based on [18F]FDG PET/CT only (0.838 vs 0.810, 0.778 vs 0.778, 0.750 vs 0.688, respectively).

Conclusion
Radiomic analysis based on dual-tracer PET/CT images is clinically promising and feasible for the differentiation between benign and malignant PNs.

Clinical relevance statement
Radiomic analysis will add differential diagnostic value of benign and malignant pulmonary nodules: a hybrid imaging study based on [18F]FDG and [18F]FLT PET/CT.

Key points
• Radiomics brings new insights into the differentiation of benign and malignant pulmonary nodules beyond the naked eyes.
• Dual-tracer imaging shows the biological behaviors of cancerous cells from different aspects.
• Radiomics helps us get to the histological view in a non-invasive approach.

Graphical Abstract
Weakly supervised segmentation models as explainable radiological classifiers for lung tumour detection on CT images
Authors: O’Shea Robert , Manickavasagar Thubeena , Horst Carolyn , Hughes Daniel , Cusack James , Tsoka Sophia , Cook Gary , Goh Vicky 
Published: November 2023

Abstract
Purpose
Interpretability is essential for reliable convolutional neural network (CNN) image classifiers in radiological applications. We describe a weakly supervised segmentation model that learns to delineate the target object, trained with only image-level labels (“image contains object” or “image does not contain object”), presenting a different approach towards explainable object detectors for radiological imaging tasks.

Methods
A weakly supervised Unet architecture (WSUnet) was trained to learn lung tumour segmentation from image-level labelled data. WSUnet generates voxel probability maps with a Unet and then constructs an image-level prediction by global max-pooling, thereby facilitating image-level training. WSUnet’s voxel-level predictions were compared to traditional model interpretation techniques (class activation mapping, integrated gradients and occlusion sensitivity) in CT data from three institutions (training/validation: n = 412; testing: n = 142). Methods were compared using voxel-level discrimination metrics and clinical value was assessed with a clinician preference survey on data from external institutions.

Results
Despite the absence of voxel-level labels in training, WSUnet’s voxel-level predictions localised tumours precisely in both validation (precision: 0.77, 95% CI: [0.76–0.80]; dice: 0.43, 95% CI: [0.39–0.46]), and external testing (precision: 0.78, 95% CI: [0.76–0.81]; dice: 0.33, 95% CI: [0.32–0.35]). WSUnet’s voxel-level discrimination outperformed the best comparator in validation (area under precision recall curve (AUPR): 0.55, 95% CI: [0.49–0.56] vs. 0.23, 95% CI: [0.21–0.25]) and testing (AUPR: 0.40, 95% CI: [0.38–0.41] vs. 0.36, 95% CI: [0.34–0.37]). Clinicians preferred WSUnet predictions in most instances (clinician preference rate: 0.72 95% CI: [0.68–0.77]).

Conclusion
Weakly supervised segmentation is a viable approach by which explainable object detection models may be developed for medical imaging.

Critical relevance statement
WSUnet learns to segment images at voxel level, training only with image-level labels. A Unet backbone first generates a voxel-level probability map and then extracts the maximum voxel prediction as the image-level prediction. Thus, training uses only image-level annotations, reducing human workload. WSUnet’s voxel-level predictions provide a causally verifiable explanation for its image-level prediction, improving interpretability.

Key points
• Explainability and interpretability are essential for reliable medical image classifiers.
• This study applies weakly supervised segmentation to generate explainable image classifiers.
• The weakly supervised Unet inherently explains its image-level predictions at voxel level.

Graphical Abstract
Structures and stratigraphy of Al Jaww Plain, southeastern Al Ain, United Arab Emirates: implications for aquifer systems and mantle thrust sheet
Authors: Ullah Saif , Ali Mohammed Y. , Iqbal Muhammad A. , Bouchaala Fateh , Saibi Hakim 
Published: November 2023

AbstractThe United Arab Emirates (UAE) is dependent on desalinated water and shallow aquifers to satisfy its freshwater requirements. Despite the paramount importance of understanding the depth and spatial extent of these aquifers, comprehensive investigations into the properties of these aquifers, as well as the underlying subsurface structures and stratigraphy, have been conspicuously lacking. This study presents the findings of integrated geophysical and borehole investigations conducted in the Al Jaww Plain, southeastern Al Ain, UAE, focusing on the properties of groundwater aquifers, the Semail ophiolite contact, and subsurface structures and stratigraphy. Through the analysis of groundwater borehole data, three interconnected types of groundwater aquifers have been identified, and characterized by their hydrogeological properties. The near-surface Quaternary unconfined aquifer, with an average thickness of 25 m, represents a fresh groundwater aquifer. The second aquifer, with an average thickness of 110 m, is connected to the upper Quaternary freshwater aquifer and is interpreted as part of the surficial aquifer system. The third aquifer has an average thickness of 200 m. By employing electrical resistivity tomography, the depth of the water table and groundwater potential in the shallow unconfined Quaternary aquifer near Jabal Mundassa have been estimated, aligning with the properties observed in the unconfined Quaternary aquifer across the entire Al Jaww Plain as depicted in the groundwater borehole cross section. In addition, this study provides insights into subsurface structures and stratigraphic features, revealing the westward extension of the Hawasina thrust sheet within the plain. Gravity and magnetic data analyses in the southeastern region of the Al Jaww Plain delineate the extent of the Semail ophiolite. Notably, magnetic data reveals the presence of an NW–SE-oriented magnetic anomaly detached from the main ophiolite thrust, which corresponds to the interpretation of the Semail ophiolite contact with sedimentary carbonate rocks on the Bouguer gravity map.
Supporting detection of hostile intentions: automated assistance in a dynamic decision-making context
Authors: Patton Colleen E. , Wickens Christopher D. , Smith C. A. P. , Noble Kayla M. , Clegg Benjamin A. 
Published: November 2023

AbstractIn a dynamic decision-making task simulating basic ship movements, participants attempted, through a series of actions, to elicit and identify which one of six other ships was exhibiting either of two hostile behaviors. A high-performing, although imperfect, automated attention aid was introduced. It visually highlighted the ship categorized by an algorithm as the most likely to be hostile. Half of participants also received automation transparency in the form of a statement about why the hostile ship was highlighted. Results indicated that while the aid’s advice was often complied with and hence led to higher accuracy with a shorter response time, detection was still suboptimal. Additionally, transparency had limited impacts on all aspects of performance. Implications for detection of hostile intentions and the challenges of supporting dynamic decision making are discussed.
An incidental finding of xanthochromia during spinal anaesthesia in a patient posted for lower limb surgery
Authors: Mehta Sumedha , Adate Kavita , Valake Kiran 
Published: November 2023

Abstract
Background
Xanthochromia is the yellowish discoloration of cerebrospinal fluid associated with serious conditions like subarachnoid haemorrhage and spinal cord tumour which raises concerns regarding safety when presented during spinal anaesthesia. There is limited literature regarding the clinical implications of spinal anaesthesia in xanthochromia.

Case presentation
We report a case of a 31-year-old male patient with an incidental finding of xanthochromia cerebrospinal fluid during spinal anaesthesia. The patient with a history of fall was posted for lower limb orthopaedic surgery under subarachnoid block. In the process of administering the block, the pale yellow coloured cerebrospinal fluid was encountered.

Conclusion
We conclude that proceeding with spinal anaesthesia in xanthochromia should be at the discretion of the anaesthesiologist and further investigations for the diagnosis can be considered for the management in such cases.
Analisis Risiko Kredit Perbankan Menggunakan Algoritma K-Nearest Neighbor dan Nearest Weighted K-Nearest Neighbor
Authors: Wilujeng Dian Tri , Fatekurohman Mohamat , Tirta I Made 
Published: November 2023

<p dir="ltr"><span>Bank is a business entity that collects public funds in the form of savings and also distributes them to the public in the form of credit or other forms. Credit risk analysis can be done in various ways such as marketing analysis and big data using machine learning. One example of a machine learning algorithm is K-Nearest Neighbor (KNN) and the development of the K-Nearest Neighbor algorithm is Neighbor Weighted KNearest Neighbor (NWKNN). The K-Nearest Neighbor (KNN) algorithm is one of the machine learning methods that can be used to facilitate the classification of complex data. The purpose of this study is to determine the results of the application of the algorithm and the comparison of the use of the KNN and NWKNN algorithms in banking credit. The results obtained are that NWKNN is able to predict credit risk better, especially in classifying potential customers with potential losses compared to KNN.</span><span> </span></p><span id="docs-internal-guid-3225d0b5-7fff-da27-d883-e71a565d51af"><span><strong>Keywords</strong>: </span><span>Machine learning, KNN, NWKNN</span></span>
The Role of VET in a Green Transition of Industry: A Literature Review
Authors: Persson Thunqvist Daniel , Gustavsson Maria , Halvarsson Lundqvist Agneta 
Published: November 2023

Purpose: This article examines the role of Vocational Education and Training (VET) in a green transition of industry. In the world of industry, battling climate change is often treated as a technical issue, but recent research on VET has tried to balance the technological paradigm with more human-centric approaches. The literature review addresses emergent VET research that presents various and partially competing perspectives on the purpose of VET in relation to climate change. Methods: We use an integrative literature review to investigate this complex topic. This technique is particularly useful for making sense of emergent research concepts, as well as various, and partially competing, theoretical and methodological approaches. It also allows us to incorporate literature from different countries and VET systems. The main search was performed in Scopus during March 2023, and included studies published within a timespan of eight years (2016–2023). Findings: Through a qualitative content analysis, we have identified five cross-cutting themes in the literature: Conceptualising ill-defined concepts of green jobs and skills; high-tech solutions in the movement towards a fourth industrial revolution versus inclusive growth for VET greening; towards sustainable work-based learning for green skills in VET; radical transformative approaches to a just green transition; and the co-creation of skill-formation ecosystems. The analysis has highlighted the ways in which VET can take on different roles in the green transition, and that these roles can be developed successively in parallel with a green transition in industry. In the development of the role of VET, it is also relevant to consider the contrast between transitional approaches and transformative approaches in VET research. While transitional approaches are recurrently marked by empirical research in specialised areas and subsystems within society, transformative approaches are characterised by a stronger focus on societal transformation (large-scale changes), power dynamics, and social justice. Conclusion: In conclusion, we suggest an analytical model that synthesises research on what role VET can play in a green transition of industry. The development model highlights that VET can take on different roles in a green transition and can gradually develop in parallel with a green transition in industry.
The influence of insulin resistance variables on heart rate variability indices in mature men under Russia’s North conditions
Authors: Averyanova I. V. 
Published: November 2023

BACKGROUND: Heart rate autonomic regulation can go out of balance which is normally assessed by the heart rate variability (HRV) indices. Similarly, it is relevant to research if and how HRV fluctuations can be influenced by varying signs of insulin resistance since they are quite common in Northern men. At present, there is no evidence of this influence in the North residents of older ages.AIM: This study aimed to comparatively assess heart rate variability in mature men who do or do not feature metabolic signs of insulin resistance.MATERIALS AND METHODS: Seventy-three mature aged male residents of Magadan Region, Caucasian by origin, were examined. All the subjects were divided into two groups: Group without insulin resistance signs (HOMA-IR index < 2.5 units) and Group with insulin resistance signs (HOMA-IR index > 2.5 units). We used immunochemiluminescent and enzymatic methods, and heart rate variability was assessed using the Varikard (Russia).RESULTS: Our research showed that 48% of all the examinees exhibited signs of insulin resistance along with an increase in the sympathetic activity in heart rate regulation. We also identified the heart rate indicators that had proved to undergo the most significant changes depending on the HOMA-IR index and the presence or absence of signs of insulin resistance: MxDMn, pNN50, SDNN, AMo50, SI, TP, HF, LF, and Body Mass.CONCLUSION: In general, the results obtained allow for ascertaining the high proportion of male Northerners of mature age with signs of insulin resistance. We also claim that those examinees demonstrate an autonomic imbalance and a moderate dominance of the sympathetic activity with a simultaneous decrease in activation of the parasympathetic link of autonomic nervous system and high body mass variables. At the same time, the correlations and causal associations among signs of insulin resistance, activation of the sympathetic link of autonomic nervous system, and overweight remain unclear. Apparently, all the analyzed features are likely to complement each other rather than completely exclude each other. The triad of obesity, signs of insulin resistance, and activation of the sympathetic link of autonomic nervous system is a driving factor for significant health risks. This study is expected to spread the use of the method of assessing heart rate variability based on insulin resistance signs as well as in reliance on metabolic disorders in general in a sample of mature men.