bluuebunny/crossref_metadata_2025_split huggingface dataset:
Exploratory profiling of metabolites in cerebrospinal fluid using a commercially available targeted metabolomics kit to discriminate leptomeningeal metastasis
Authors: Jang Soojin , Gwak Ho-Shin , Lee Kyue-Yim , Lee Jun Hwa , Kim Kyung-Hee , Kim Jong Heon , Park Jong Bae , Shin Sang Hoon , Yoo Heon , Dho Yun-Sik , Wang Kyu-Chang , Yoo Byong Chul 
Published: October 2024

Abstract

Background: Early diagnosis is needed for patients with leptomeningeal metastasis (LM); however, cerebrospinal fluid (CSF) cytology has low sensitivity, and imaging approaches are ineffective. We explored targeted CSF metabolic profiling to discriminate among LM and other conditions affecting the central nervous system (CNS).
Methods: We quantitatively measured amino acids, biogenic amines, hexose, acylcarnitines (AC), cholesteryl esters (CE), glycerides, phosphatidylcholines (PC), lysophosphatidylcholines (LPC), sphingomyelins (SM), and ceramides (Cer) in 117 CSF samples from healthy controls (HC, n=10) and patients with LM (LM, n=47), parenchymal brain tumor (PBT, n=45), or inflammatory disease (ID, n=13) with internal standards using the Absolute IDQ-p400 targeted mass spectrometry kit. Metabolites expressed in >90% of samples or showing a difference in proportional expression between groups ≥75% were used in logistic regression models.
Results: PC and SM had higher expression in LM than in PBT or HC, whereas LPC had lower expression in PBT than the other groups. Glycerides and Cer expression were higher in PBT and LM than in HC. Long-chain AC expression in PBT was lower than in LM or HC. A regression model including Ala, PC (42:7), PC (30:3), PC (37:0), and Tyr achieved complete discrimination (AUC=1.0) between LM and HC. In comparison of PBT and HC, twenty-six individual metabolites allowed complete discrimination between two groups, and between ID and HC fourty-six individual lipid metabolites allowed complete discrimination. Twenty-one individual metabolites (18 ACs and 3 PCs) allowed complete discrimination between LM and PBT.
Conclusions: Differentially expressed CSF metabolites, mostly lipids with unknown CNS and cell-type distributions, discriminate LM from other diseases. Identified discriminative profiles require future validation studies.
Introducing a novel homozygote TRAPPC10 mutation as a potential cause of developmental delay and intellectual disability in an Iranian family
Authors: Nozari Ahoura , Banitalebi Setareh , Babaahmadi Paria , Jalilian Narges , Sadeghi Taha , Hasani Mahdieh 
Published: October 2024

Abstract

Background
TRAPP complexes are crucial components for intracellular transport and cellular organization. Their role in vesicle trafficking, particularly through their involvement in the secretory pathway, make them more important in neurodevelopmental mechanisms. This study aims to identify a novel genetic variant, associated with developmental delay and intellectual disability by analyzing a consanguineous Iranian family.
Materials and Methods
Here, we performed whole-exome sequencing on an Iranian family, originating from a small population. The patient presented with severe developmental delay, microcephaly, and behavioral abnormalities. Through our analysis, we discovered a new biallelic variant on a previously introduced gene: TRAPPC10 (NM_003274.5): c.3222C > A; p.(Cys1074Ter) that is a potential cause for these specific clinical characteristics.
Results
Previous functional analysis suggest that the mutation causes premature termination of protein translation, likely leading to nonsense-mediated decay because of biallelic loss of functional TRAPPC10 protein which leads to severe developmental delay, microcephaly, and behavioral abnormalities such as aggression and autistic traits.
Conclusion
The aim of this research is to discover a novel variant in the TRAPPC10 gene that is responsible for a particular neurodevelopmental condition, dominantly characterized by developmental delay, intellectual disability, and microcephaly. These findings advance the comprehension of TRAPP-related diseases and emphasize the need for further exploration into the impact of TRAPPC10 on the development of the nervous system.
Deep Brain Stimulation of the Cortico-Basal Ganglia Network Enhances Cognitive Flexibility and Ameliorates Exploration Anomalies in a Primate Schizophrenia Model
Authors: Asch Nir , Rahamim Noa , Werner-Reiss Uri , Israel Zvi , Bergman Hagai 
Published: October 2024

Abstract

Learning thrives on cognitive flexibility and exploration. Subjects with schizophrenia have impaired cognitive flexibility and maladaptive exploration patterns. The basal ganglia-dorsolateral prefrontal cortex (BG-DLPFC) network plays a significant role in learning processes. However, how this network maintains cognitive flexibility and exploration patterns and what alters these patterns in schizophrenia remains elusive. Using a combination of extracellular recordings, pharmacological manipulations, macro-stimulation techniques, and adaptive reinforcement learning modeling, we show that in the nonhuman primate (NHP), the external segment of the globus pallidus (GPe, the central nucleus of the BG network) modulates cognitive flexibility and exploration patterns. We found that chronic, low-dose administration of N-methyl-D-aspartate receptor (NMDA-R) antagonist, phencyclidine (PCP), decreases directed exploration but increases random exploration, as seen in schizophrenia. However, low-frequency GPe macro-stimulation restores the balance of both exploration types. Our findings suggest that schizophrenia symptoms reflect abnormal BG-DLPFC balance, and GPe stimulation may be advantageous for these patients.
Evaluation of Image Quality of Temporal Maximum Intensity Projection and Average Intensity Projection of Adaptive 4D Spiral CT Scans: A Phantom Study
Authors: Horinouchi Hiroki , Sekitani Toshinori , Nishii Tatsuya , Negi Noriyuki , Sofue Keitaro , Fukuda Tetsuya , Takahashi Satoru 
Published: October 2024

Abstract

Adaptive four-dimensional (4D) spiral computed tomography (CT) scans facilitate the acquisition of volume perfusion data for organs or long-range vessels but optimizing image quality and reducing noise while minimizing radiation doses remains challenging. Thus, image-processing techniques such as temporal maximum intensity projection (MIP) and average intensity projection (AIP) are crucial in this context. This ex vivo study aimed to compare image noise, spatial resolution, and vessel diameter measurements between temporal MIP and AIP images with those of conventional CT images using phantoms. Three phantoms were scanned with equivalent radiation doses using single helical and adaptive 10-phase 4D spiral scans using a third-generation dual-source CT scanner. Temporal MIP and AIP images of 4D CT scans were generated by summing varying numbers of phases, incorporating automatic motion correction with non-rigid registration and a noise reduction algorithm. The CT values and image noise of the temporal MIP and AIP images were compared to conventional CT images. The task transfer function (TTF) was calculated using static phantoms. Vessel diameters of the phantoms for each image dataset were evaluated using motion phantoms. Temporal AIP images showed comparable CT values with those of the reference image, whereas the CT values of the temporal MIP images were significantly higher than those of the reference images (P < .01). The image noise of temporal AIP images with six or more phases was equal to or lower than that of the reference images. In contrast, temporal MIP images exhibited consistently high noise levels regardless of the number of summed phases. The TTF of temporal AIP images was comparable to that of the reference CT images. However, the TTF of temporal MIP images gradually decreased as the number of summed phases increased. No significant differences were observed in vessel diameter measurements among the three groups or with varying numbers of summed phases (P > .05). In conclusion, temporal MIP and AIP images from 4D CT can reduce noise and maintain measurement reliability in motion phantoms, achieving performance levels comparable to conventional CT images.
Genome wide association studies are enriched for interacting genes
Authors: Nguyen Peter T. , Coetzee Simon G. , Silacheva Irina , Hazelett Dennis J. 
Published: October 2024

Abstract

Background: With recent advances in single cell technology, high-throughput methods provide unique insight into disease mechanisms and more importantly, cell type origin. Here, we used multi-omics data to understand how genetic variants from genome-wide association studies influence development of disease. We show in principle how to use genetic algorithms with normal, matching pairs of single-nucleus RNA- and ATAC-seq, genome annotations, and protein-protein interaction data to describe the genes and cell types collectively and their contribution to increased risk.
Results: We used genetic algorithms to measure fitness of gene-cell set proposals against a series of objective functions that capture data and annotations. The highest information objective function captured protein-protein interactions. We observed significantly greater fitness scores and subgraph sizes in foreground vs.matching sets of control variants. Furthermore, our model reliably identified known targets and ligand-receptor pairs, consistent with prior studies.
Conclusions: Our findings suggested that application of genetic algorithms to association studies can generate a coherent cellular model of risk from a set of susceptibility variants. Further, we showed, using breast cancer as an example, that such variants have a greater number of physical interactions than expected due to chance.
Nonperturbative Nonlinear Transport in a Floquet-Weyl Semimetal
Authors: McIver James , Day Matthew , Kusyak Kateryna , Sturm Felix , Aranzadi Juan , Bretscher Hope , Fechner Michael , Matsuyama Toru , Michael Marios , Schulte Benedikt , Li Xinyu , Hagelstein Jesse , Hermann Dorothee , Kipp Gunda , Potts Alexander , Destefano Jonathan , Hu Chaowei , Huang Yunfei , Taniguchi Takashi , Watanabe Kenji , Meier Guido , Shin Dong bin , Rubio Angel , Chu Jiun-Haw , Kennes Dante , Sentef Michael 
Published: October 2024

Abstract

Periodic laser driving, known as Floquet engineering, is a powerful tool to manipulate the properties of quantum materials. Using circularly polarised light, artificial magnetic fields, called Berry curvature, can be created in the photon-dressed Floquet-Bloch states that form. This mechanism, when applied to 3D Dirac and Weyl systems, is predicted to lead to photon-dressed movement of Weyl nodes which should be detectable in the transport sector. The transport response of such a topological light-matter hybrid, however, remains experimentally unknown. Here, we report on the transport properties of the type-II Weyl semimetal Td-MoTe2 illuminated by a femtosecond pulse of circularly polarised light. Using an ultrafast optoelectronic device architecture, we observed injection currents and a helicity-dependent anomalous Hall effect whose scaling with laser field strongly deviate from the perturbative laws of nonlinear optics. We show using Floquet theory that this discovery corresponds to the formation of a magnetic Floquet-Weyl semimetal state. Numerical ab initio simulations support this interpretation, indicating that the light-induced motion of the Weyl nodes contributes substantially to the measured transport signals. This work demonstrates the ability to generate large effective magnetic fields (> 30T) with light, which can be used to manipulate the magnetic and topological properties of a range of quantum materials.
Residential fungal β-(1,3)-D-glucan exposure is associated with decreased pulmonary function in fibrotic pulmonary sarcoidosis.
Authors: Stapleton Emma M , Metwali Nervana , Shlossman Michael , Wendt Linder , Pezzulo Alejandro A , Hamzeh Nabeel Y , Comellas Alejandro P , Thorne Peter S , Gerke Alicia K 
Published: October 2024

Abstract

Background: Sarcoidosis is a multi-system disease frequently affecting the lungs. It is thought to be mediated by gene-environment interaction; for example, epidemiological data show organic aerosol exposure increases risk of pulmonary sarcoidosis.
Research Question: Does exposure to bioaerosol associate with worse lung disease in patients with pulmonary sarcoidosis?
Study Design and Methods: Using an observational, cohort study design, we measured residential exposure to fungal and bacterial cell wall material, β-(1,3)-D-glucan (BDG) and endotoxin, respectively, in healthy control subjects and those with pulmonary sarcoidosis. In the case cohort, we compared bioaerosol concentrations to pulmonary disease severity, assessed by pulmonary function testing, qualitative chest computed tomography (CT), and serum biomarkers. Log-transformed bioaerosol concentrations were compared to lung function and significance and correlation determined by Pearson correlation.
Results: Homes of subjects with sarcoidosis had higher BDG and endotoxin concentrations than control subjects. Patients with significant pulmonary fibrosis had greater disease severity (Wasfi severity score, visual analogue scale) and reduced pulmonary function compared to those without fibrosis (all P<0.01). Residential fungal BDG correlated with declining FVC, only in patients with fibrosis on CT imaging (P=0.02). Survey data revealed higher BDG concentrations were found in homes of cat-owners, and the number of houseplants owned correlated with declines in FVC and FEV1 (P=0.05 and 0.02, respectively). In patients without fibrosis, eight inflammatory markers correlated with BDG (6CKine/CCL21, IL-9, IL-17F, IL-21, IL-28A, I-309, MIP-1β, TARC), while in those with pulmonary fibrosis, BDG correlated with two inflammatory markers (Eotaxin-3, M-CSF), suggesting immune anergy to inhaled antigens in patients with fibrosis.
Interpretation: In patients with pulmonary fibrosis, disease severity was correlated with residential exposure to fungal cell wall material, but not gram-negative bacterial cell wall material. These patients may experience immune anergy to inhaled antigens.
An integrated model combined conventional radiomics and deep learning features to predict early recurrence of hepatocellular carcinoma eligible for curative ablation: a multicenter cohort study
Authors: Li Yonghai , Qian Guixiang , Zhu Yu , Lei Xuedi , Xu Ziling , Tang Lei , Bu Xiangyi , Wei Mingtong , Lu Jianlin , Jia Weidong 
Published: October 2024

Abstract

Aim This study aimed to develop and validate a model (DLRR) that incorporates deep learning radiomics and traditional radiomics features to predict ER following curative ablation for HCC.
Backround Hepatocellular carcinoma (HCC) is the most common primary liver malignancy. Ablation therapy is one of the first-line treatments for early HCC. Accurately predicting early recurrence (ER) is crucial for making precise treatment plans and improving prognosis.
Methods We retrospectively analysed the data of 288 eligible patients from three hospitals—one primary cohort (centre 1, n=222) and two external test cohorts (centre 2, n=32 and centre 3, n=34)—from April 2008 to March 2022. 3D ResNet-18 and PyRadiomics were applied to extract features from contrast-enhanced computed tomography (CECT) images. The three-step (ICC-LASSO-RFE) method was used for feature selection, and six machine learning methods were used to construct models. Performance was compared via the area under the receiver operating characteristic curve (AUC), net reclassification improvement (NRI) and integrated discrimination improvement (IDI) indices. Calibration and clinical applicability were assessed via calibration curves and decision curve analysis (DCA), respectively. Kaplan-Meier (K-M) curves were generated to stratify patients based on progression-free survival (PFS) and overall survival (OS).
Results The DLRR model had the best performance, with AUCs of 0.981, 0.910 and 0.851 in the training, internal validation, and external validation sets, respectively. NRI and IDI tests indicated that the DLRR model outperformed the DLR model (AUCs of 0.910 and 0.874; P < 0.05) and the Rad model (AUCs of 0.910 and 0.772; P < 0.05). Although the AUC of DLRR was slightly lower than that of the combined model (incorporating DLRR and clinico-radiological features), there was no significant difference (AUCs of 0.910 and 0.914; P > 0.05). Additionally, the calibration curve and DCA curve revealed that the DLRR model had good calibration ability and clinical applicability. The K-M curve indicated that the DLRR model provided risk stratification for progression-free survival (PFS) and overall survival (OS) in HCC patients.
Conclusion The DLRR model noninvasively and efficiently predicts ER after curative ablation in HCC patients, which helps to categorize the risk in patients to formulate precise diagnosis and treatment plans and management strategies for patients and to improve the prognosis.
Does hip bone morphology differ depending on the presence of Cam lesions in Borderline Developmental Dysplasia of the Hip?
Authors: Kuroda Yuichi , Kamenaga Tomoyuki , Araki Shotaro , Tsubosaka Masanori , Nakano Naoki , Matsumoto Tomoyuki , Kuroda Ryosuke , Hayashi Shinya 
Published: October 2024

Abstract

Objective. The purpose of this study was to divide patients with borderline developmental dysplasia of the hip (BDDH) into two groups according to the presence of Cam lesions, and compare radiographs related to bone morphology between them.
Materials and Methods.We retrospectively analyzed consecutive patients with BDDH who underwent hip arthroscopy (HA) or periacetabular osteotomy (PAO) at our institution between October 2013 and October 2019. The patients were classified into two groups according to the presence of Cam lesions. Radiographic measurements including lateral center-edge angle (LCEA), acetabular roof obliquity (ARO), cliff sign, femoral epiphyseal acetabular roof (FEAR) index, vertical center anterior angle (VCA), and Sourcil Index were compared between the two groups. The cutoff values were calculated using a receiver operating characteristic curve.
Results. Sixty-nine hips were analyzed in this study (Cam+: 34, Cam-: 35). The ARO and FEAR indexwere significantly higher in the Cam- group (P<0.001, P<0.001). The LCEA, VCA, and Sourcil Index was significantly lower in the Cam- group than that in the Cam+group (P<0.001, P<0.001, P<0.001). The cut-off values were 21.0° for LCEA, 15.1° for the ARO, 22.5° for the VCA angle, -2.2° for the FEAR index, and 49.5° for the Sourcil Index
Conclusion. Patients with BDDH exhibited significant differences in bone morphology depending on the presence of Cam lesions. Moreover, those without Cam lesions displayed similarities to patients with DDH. For such patients, performing HA alone risks poor clinical outcomes, and surgery to improve acetabular coverage, such as PAO, may be indicated.
Collective redox-shuttling properties of nanoalloys boost water electrolysis of nitrides
Authors: Duan Xinping , Zuo Peng , Li Na , Lu Jiawei , Zhang Jiayang , Wen Zhaojun , Fang Huihuang , Jiao Weizhou , Wang Ruixin , Lin Haiqiang 
Published: October 2024

Abstract

Interstitial transition metal catalysts (carbides, nitrides, and sulfides) represent the promising nonprecious metal bifunctional catalysts for water electrolysis. However, they still suffer from inferior activity and, particularly, stability for industrial applications. Leveraging template-free hydrothermal and reduction protocol, we report an unexpected collective effect between CoNi nanoalloy and molybdenum nitride (Mo2N) phase on Ni foam substrate (Mo2N@NiCo/NF). Distinct from the conventional promoting effect of the additives to parent metal motifs, the collective properties of local nanosized CoNi particles in Mo2N@NiCo/NF comprise differently-weighted geometric and electronic interactions, leading to remarkably enhanced hydrogen evolution reaction (HER) activity (18 and 67 mV at the current density of 10 and 100 mA cm−2, respectively) for Mo2N active sites in alkaline, relative to Pt/C@NF (87 mV at 100 mA cm−2). In-depth characterization, density functional theory (DFT) calculations, and electrocatalytic kinetics reveal that spatially located CoNi nanoalloy inside two-dimensional Mo2N nanoarrays serves as collective electron buffer, enabling the enhanced redox-shuttling properties and thus fulfilling the bifunctional catalytic activities for overall water and simulated seawater splitting with excellent durability (200 h at 50 or 100 mA cm−2). These results verify the importance of a collective properties strategy to design efficient bifunctional metal electrocatalysts for water electrolysis.
Examining the Impact of Human Brands on Sustainable Consumption Patterns: A Structural Equation Modeling Approach
Authors: Asiabar Mojtaba Ghorbani , Asiabar Morteza Ghorbani , Asiabar Alireza Ghorbani 
Published: October 2024

Abstract

This study investigates the influence of human brands on sustainable consumption patterns using a structural equation modeling approach. As environmental concerns grow and demand for sustainable products increases, understanding the factors that affect consumer behavior becomes crucial. This research aims to fill a gap in the literature by exploring the role of human brands in shaping attitudes and behaviors towards sustainable consumption. Data were collected through an online survey of 500 consumers across the country. Structural Equation Modeling (SEM) using AMOS software was employed to analyze the data. Results revealed that human brands have a significant positive impact on consumers' attitudes towards sustainable consumption (β = 0.42, p < 0.001) and intention to purchase sustainable products (β = 0.38, p < 0.001). Moreover, brand trust and brand identity were identified as mediating variables in this relationship. The study utilized a comprehensive model that incorporated various constructs, including human brand attributes, consumer perception, and sustainable consumption behaviors. The model demonstrated good fit indices (CFI = 0.95, TLI = 0.94, RMSEA = 0.058), supporting its validity. Additionally, a multi-group analysis revealed that the impact of human brands on sustainable consumption patterns was consistent across different demographic groups (Δχ2 = 7.23, df = 6, p > 0.05). This research offers new insights into the role of human brands in promoting sustainable consumption, with important implications for marketers and policymakers. The findings can contribute to the development of more effective strategies for encouraging sustainable consumer behaviors. Future studies could explore the influence of cultural and social factors on these relationships.
Effect of Substrate Temperature on the Structural and Optical Properties of CdO Thin Films Prepared Using Spray Pyrolysis
Authors: Aldabagh Araddah Abdulkhaleq , Zaker Thoalfiqar Ali , Uonis Mohammad Mahmood , Polus Tharaa Jirjees 
Published: October 2024

Abstract

Cadmium oxide films (CdO) have been deposited on glasse’s substrate at various temperature (150, 250 & 300 °C) using spray pyrolysis technique. Structural properties have been investigated by scanning electron microscope (SEM), X-ray spectroscopy, while optical properties were characterized (linear & nonlinear) using UV-Vis spectrometer and z-scan technique. SEM image shows clear effects of temperature increasing on thin film layer structure. Energy gap was changed from 2.2-2.05eV with substrate temperature. According to third order nonlinearity of CdO optical properties (which are very valuable for laser control device application and optical limiting), open and closed aperture Z-scan technique with (632.8 nm) He-Ne laser wavelength was used to measure the nonlinearity of optical parameters, which included refractive index variation and extinction coefficient.