bluuebunny/crossref_metadata_2025_split huggingface dataset:
Optimization, Validation and Initial Clinical Implications of a Luminex-based Immunoassay for the Quantification of Fragile X Protein from Dried Blood Spots
Authors: Boggs Anna , Schmitt Lauren , McLane Richard , Adayev Tatyana , LaFauci Giuseppe , Dominick Kelli , Gross Christina , Horn Paul , Erickson Craig 
Published: September 2021

Abstract
Background: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability affecting 1 in 4,000 males and 1 in 6-8,000 females. FXS is caused by a trinucleotide expansion in the 5’UTR of the Fragile X Mental Retardation (FMR1) gene which in full mutation carriers (>200 repeats) leads to hypermethylation and transcriptional silencing of the gene and lack of expression of Fragile X Protein (FXP, formerly known as Fragile X Mental Retardation Protein, FMRP). Phenotypic presentation of FXS is highly variable, and molecular markers explaining or predicting this variability are lacking. Recent studies suggest that trace amounts of FXP can be detected even in fully methylated individuals and may have clinical relevance; however, the lack of available reproducible, sensitive assays to detect FXP in peripheral tissue makes evaluation of peripheral FXP as a source of clinical variability challenging. Methods: We optimized a Luminex-based assay to detect FXP in dried blot spots for increased reproducibility and sensitivity by improving reagent concentrations and buffer conditions. The optimized assay was used to quantify FXP in 187 individuals (101 males, 86 females; 0-78.4 years) including 35 typically developing controls (24 males, 11 females), 103 individuals carrying full mutations (70 males, 33 females), and 49 individuals with premutations (7 males, 42 females). A subset of these individuals showed repeat number or methylation mosaicism. We investigated the clinical relevance of peripheral FXP levels by examining its relationship with general intellectual functioning in a subset of individuals with available IQ scores. Results: We show that the optimized assay is highly reproducible and detects a wide range of FXP levels. Mosaic individuals had, on average, higher FXP levels than fully methylated individuals, and trace amounts of FXP were consistently detectable in a subset of individuals with full mutation FXS. IQ scores were positively correlated with peripheral FXP levels in male and female individuals with full mutation FXS. Conclusions: We demonstrate that our optimized Luminex-based assay to detect FXP is reproducible, highly sensitive, and related to the core intellectual disability phenotype. Further, our data suggest that trace amounts of FXP detectable in dried blood spots of individuals with FXS could be clinically relevant and may be used to stratify individuals with FXS for optimized treatment. Future studies are needed with larger sample sizes, evaluating FXP across development and expanded analysis of the relevance of FXP levels for behavioral and electrophysiological phenotypes in FXS.
The Effects of Preparation Conditions And Chemical Composition On CMAS Glass Ceramics With One Step Process
Authors: Guo Yuliang , Jin Huixin , Xiao Yuandan , Song Huahao , Wang Shangjiefu 
Published: September 2021

Abstract
Based on the composition of Cr-doped solid waste, other oxides were added to adjust the composition to prepare glass-ceramics with on step composition, and the effect of heat treatment system (including temperature and holding time), chromium content, MnO and Fe2O3 doped on the crystallization and physical properties of glass-ceramics was studied. The samples were characterized by X-ray diffraction, differential thermal analysis and scanning electron microscopy. The results show that the best treatment conditions are 1090 ℃ for 4h, and the amount of dissolved chromium reaches 5%. The main crystallization phase is diopside and anorthite. The hardness and chemical stability of the material were measured. The doping of MnO and Fe2O3 increases the crystallization activation energy of glass ceramics, and makes the crystal phase more uniform as the SEM results. This experiment provides a theoretical basis for the preparation of CMAS glass ceramics from chromium containing solid waste.
Predictors of Prognosis of Surgically Resected Brain Metastasis from Lung Cancer with a Focus on Brain Recurrence
Authors: Byun Joonho , Kim Moinay , Lee Seungjoo , Song Sang Woo , Kim Young-Hoon , Hong Chang Ki , Kim Jeong Hoon 
Published: September 2021

Abstract
Purpose: There are many considerations to decide surgical treatment in lung cancer-brain metastasis. Herein, we analyzed survival and predictors of brain recurrence after surgery for lung cancer-brain metastasis. Methods: A total of 224 metastatic brain tumors from patients with lung cancer were analyzed. Results: There were 138 (61.6%) male and 86 (38.4%) female patients; 197 patients with non-small cell lung cancer (NSCLC) and 27 with small cell lung cancer (SCLC). The rate of postoperative complications was 4.9%. The 1-year and 2-year overall survival (OS) was 57% and 43%, respectively. The 6-month and 1-year progression-free survival (PFS) of local recurrence was 42% and 20%, respectively. In NSCLC and SCLC groups, the difference of PFS of local recurrence according to adjuvant irradiation was not significant (1-year: 20% vs. 22%, p=0.8) and (1-year: 14% vs. 25%, p=0.16), respectively. Whole-brain irradiation did not show a significant difference of distant recurrence (6-month: 54% vs. 60%, p=0.13). In predictor analysis, female sex was a favorable prognostic factor for OS, while SCLC histology and postoperative neurological deficits were poor prognostic factors in univariate analysis. Conclusions: SCLC histology and postoperative complications are negative predictors for OS. Adjuvant irradiation did not show effectiveness to reduce local and distant recurrence.
Spotlight on MuSK Positive Myasthenia Gravis: Clinical Characteristics, Treatment and Outcomes
Authors: Huang Qi , Li Feng , Zhao Song 
Published: September 2021

Abstract
Background: To investigate the clinical characteristics, treatment and outcomes of myasthenia gravis with antibodies to the muscle-specific tyrosine kinase (MuSK-MG).Methods: We retrospectively reviewed 21 patients with confirmed MuSK-MG between January 2012 to January 2020 in our center. Detailed clinical data and long-term follow up information were summarized.Results: Females (17/21, 81%) predominated in MuSK-MG and the mean age of onset in this group was 51.86±16.16 years. MuSK-MG patients was divided into three subgroups according to the symptom of muscle weakness at onset: ocular myasthenia gravis (OMG, 47.6%), bulbar myasthenia gravis (BMG, 42.9%), and generalized myasthenia gravis (GMG, 9.5%). The mean progression time from symptoms onset to other muscle groups involvement in OMG patients was 4.38±2.54 months. Pyridostigmine bromide was adopted in 81.0% patients and 90.5% patients received corticosteroids. Compared to the usage in hospital, the median daily dose of corticosteroids decreased significantly at the last follow-up. 85.7% patients received a long-term follow-up with an average time of 1202.17 ± 976.73 days. At the end of the follow-up period: 4.8% patient received complete stable remission, 42.9% patients were in minimal manifestations, 19.0% had improved, 4.8% experienced an unchanged condition and 9.5% patients died.Conclusion: Female patients were more prevalent in this study and MuSK-MG patients had a rapid progress to a generalized state. Although about 50% MuSK-MG patients can achieve a favorable outcome with conventional immunosuppressants, complete stable remission is rare and about 15% respond poorly, more effective medications should be explored in these patients.
Host Plant Limitation of Butterflies in Highly Fragmented Landscapes
Authors: Crone Elizabeth , Schultz Cheryl B. 
Published: September 2021

Abstract
Insect herbivores can be limited by host plants in two ways: density‐dependent competition for food resources, or density‐independent search time limitation. Our understanding of density‐dependent host plant limitation is relatively well developed and well integrated into conservation plans for at‐risk insects. Search time limitation is much less well developed. Here, we explore both mechanisms using empirically‐based models of monarch butterfly population dynamics. These mechanisms differ fundamentally in their predictions: Resource competition leads to matching of herbivore densities to host plant densities, and visible competition via consumption of host plants. Search time limitation leads to changes in population growth rate that can cause herbivore numbers to decline when host plant densities are constant. Search time limitation also implies that host plants can limit herbivores, even when many individual plants are uneaten. For monarch butterflies, our calculations suggest that many parts of North America have host plant densities below the threshold for search time limitation, which contrasts with the typical assumption of resource competition. More generally, incorporating search time limitation into conservation plans is important for reframing our understanding of how host plants limit insect herbivores in highly fragmented landscapes.
Atomistic Mechanisms of The Tautomerization of The G·C Base Pairs Through The Proton Transfer: Quantum-Chemical Survey
Authors: Brovarets' Ol'ha , Muradova Alona , Hovorun Dmytro 
Published: September 2021

Abstract
This study is devoted to the investigation of the G·C*tO2(WC)↔G*NH3·C*t(WC), G·C*O2(WC)↔G*NH3·C*(WC) and G*·C*O2(WC)↔G*NH3·C(wWC)↓ tautomerization reactions occurring through the proton transfer, obtained at the MP2/6-311++G(2df,pd)//B3LYP/6-311++G(d,p) level of theory in gas phase under normal conditions (T=298.15 K). These reactions lead to the formation of the G*NH3·C*t(WC), G*NH3·C*(WC) and G*NH3·C(wWC)↓ base pairs by the participation of the G*NH3 base with NH3 group. Gibbs free energies of activation for these reactions are 6.43, 11.00 and 1.63 kcal·mol-1, respectively. All of these tautomerization reactions are dipole active. Finally, we believe that these non-dissociative processes, which are tightly connected with the tautomeric transformations of the G·C base pairs, play outstanding role in the supporting of the spatial structure of the DNA and RNA molecules with various functional purposes.
Enhanced Efficiency of Graphene-silicon Schottky Junction Solar Cell through Pyramid Arrays Texturation
Authors: Li Cheng , Ma Yichen , Zhang Xiyao , Chen Xiuhua , Xi Fengshuo , Li Shaoyuan , Wenhui Ma , Chang Yuanchih 
Published: September 2021

Abstract
Graphene/silicon (Gr/Si) Schottky junction solar cells have attracted extensive research interest due to their simple structure and potential low-cost. Surface texturing is an important part of high-efficiency solar cells. In this paper, the effects of TMAH concentration, IPA concentration and etching time on the structure and anti-reflection ability of silicon pyramid array (SiPa) were systematically studied to obtain uniform and reliable pyramid array. Under the optimized conditions, a large scale SiPa with uniform size distribution was obtained and applied to Gr/Si solar cells. The results show that the TMAH etched SiPa has a better Schottky junction contact between graphene and the SiPa surface, and the SiPa can further improves the ability of collecting photogenerated carriers. Compared with Gr/Si solar cells, the power conversion efficiency (PCE) of Gr/SiPa device is 1.66 times higher than that of Gr/Si solar cells. Finally, Gr/SiPa devices with PCE of 5.67% is successfully obtained by HNO3 doping. This work proposes a new strategy for TMAH etching SiPa to improve the performance of Gr/Si solar cells.
Fused Filament Fabrication, a New Fabrication Paradigm for 3D Printing Capacitive Sensors: Design, Fabrication, and Characterization for Liquid Level Measurements.
Authors: Stano Gianni , Nisio Attilio Di , Lanzolla Anna Maria , Ragolia Mattia , Percoco Gianluca 
Published: September 2021

Abstract
In recent years, the exploitation of Additive Manufacturing technologies for the fabrication of different kinds of sensors has abruptly increased: in particular, a growing interest for extrusion-based techniques has emerged. This research proposes the exploitation of Fused Filament Fabrication (FFF) process and two commercial materials (one flexible and one conductive) for the monolithic fabrication of a bendable, coplanar capacitive sensor. The whole sensor, consisting of a flexible substrate and two electrodes, has been fabricated in a single-step printing cycle: Design for Additive Manufacturing approach was used, setting out a methodology to direct 3D print thin and close tracks with conductive materials, in order to obtain high capacitance values measurable by common measurement instrumentations. Despite a huge exploitation of FFF technology for piezoresistive-based sensors, this manufacturing process has never been used for the fabrication of coplanar capacitive sensors since the manufacture of thin and close conductive tracks (key requirement in coplanar capacitive sensors) is a challenging task, mainly due to low manufacturability of extruded conductive beads with a high level of detail. Two versions of the sensor were developed: the first one with an embedded 3D printed coverage (ready to use) and the second one which requires a further manual post-processing to seal the electrodes. The main benefits related to the exploitation of FFF technology for these sensors are: i) the reduction of the number of different manufacturing processes employed, from at least two in traditional manufacturing approach up to one, ii) the exploitation of a cost-effective technology compared to traditional high-cost technologies employed (i.e. lithography, inkjet etc.) iii) the reduction of manual and assembly tasks (one of the proposed versions does not require any further task) , and iv) the cost-effectiveness of the sensors (in a range between 0.27 € and 0.38 €). The two developed prototypes have been tested demonstrating all their potentialities in the field of liquid level sensing, showing results consistent with the ones found in scientific literature: good sensitivity and high linearity and repeatability were proved when different liquids were employed. These 3D printed liquid level sensors have these features: i) flexible sensor, ii) the length is limited only by the machine workspace, iii) they can be either applied outside of the traditional reservoirs or embedded into the reservoirs (by 3D printing both the reservoir and sensor in the same manufacturing cycle), and iv) simple calibration.Finally, the bendability of these sensors paves the way toward their application for liquid level sensing into tanks with non-conventional shapes and for other application fields (i.e. soft robotics, non-invasive monitoring for biomedical applications).
Exosomes from Adipose-Derived Stem Cells Regulate M1/M2 Macrophage Phenotypic Polarization to Promote Bone Healing via miR-451a/MIF
Authors: Li Rui , Li Dize , Wang Huanan , Chen Kaiwen , Wang Si , Xu Jie , Ji Ping 
Published: September 2021

Abstract
Objectives: Bone defects caused by diseases and trauma are usually accompanied by inflammation, and the implantation of biomaterials as a common repair method has also been found to cause inflammatory reactions, which affect bone metabolism and new bone formation. This study investigated whether exosomes from adipose-derived stem cells (ADSC-Exos) plays an immunomodulatory role in traumatic bone defects and elucidated the underlying mechanisms.Methods:ADSC-Exos were loaded by a biomaterial named gelatine nanoparticles (GNPs), physical and chemical properties were analyzed by zeta potential, surface topography and rheology. A rat model of skull defect was used for our in vivo studies, micro-CT and histological staining were used to analyse histological changes in the bone defect area. RT-qPCR and western blotting were performed to verify that ADSC-Exos could regulate M1/M2 macrophage polarization. MicroRNA (miRNA) array analysis was conducted to determine the miRNA expression profiles of ADSC-Exos. After macrophages were treated with a miR-451a mimic, miR-451a inhibitor and ISO-1, the relative expression of genes and proteins was measured by RT-qPCR and western blotting.Results: In vivo, micro-CT and histological staining showed that exosome-loaded GNPs(GNP-Exos) hydrogel, with good biocompatibility and strong mechanical adaptability,exhibited immunomodulatory effect mainly by regulating macrophage immunity and promoting bone tissue healing. Immunofluorescence further indicated that ADSC-Exos reduced M1 marker (iNOS) expression and increased M2 marker (CD206) expression. Moreover, in vitro studies, western blotting and RT-qPCR showed that ADSC-Exos inhibited M1 macrophage marker expression and upregulated M2 macrophage marker expression. MiR-451a was enriched in ADSC-Exos and targeted macrophage migration inhibitory factor (MIF). Macrophages treated with the miR-451a mimic showed lower expression of M1 markers. In contrast, miR-451a inhibitor treatment upregulated the expression of M1 markers and downregulated the expression of M2 markers, while ISO-1 (a MIF inhibitor) treatment upregulated miR-451a expression and downregulated M1 macrophage marker expression.Conclusion: GNP-Exos can effectively regulate bone immune metabolism and futher promote bone healing partly through immune regulation of miR-451a,which may provide a therapeutic direction for bone repair.
A Novel Prognostic Model Based On Cytosolic DNA Sensing-Related Gene Signature for Pancreatic Cancer
Authors: Xu Chuan-Qi , Yang Kui-Sheng , Zhao Shu-Xian , Lv Jian 
Published: September 2021

Abstract
Objective: Pancreatic cancer (PC) is one of the most malignant tumors. Cytosolic DNA sensing have been found to play an essential role in tumor. In this study, a cytosolic DNA sensing-related genes (CDSRGs) signature was constructed and the potential mechanisms also been discussed.Methods: The RNA expression and clinical data of PC were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO). Subsequently, univariate (UCR) and multivariate Cox regression (MCR) analyses were conducted to establish a prognostic model in the TCGA patients, which was verified by GEO patients. Cancer immune infiltrates were investigated via single sample gene set enrichment analysis (ssGSEA) and Tumor Immune Estimation Resource (TIMER). Finally, Gene Set Enrichment Analysis (GSEA) was used to investigate the related signaling pathways.Results: A prognostic model comprising four genes (POLR2E,IL18, MAVS, and FADD) was established. The survival rate of patients in the low-risk group was significantly higher than that of patients in the high-risk group. In addition, CDSRGs-risk score was proved as an independent prognostic factor in PC. Immune infiltrates and drug sensitivity are associated with POLR2E,IL18, MAVS, and FADD expression.Conclusions: In summary, we present and validated a CDSRGs risk model that is an independent prognostic factor and indicates the immune characteristics of PC. This prognostic model may facilitate the personalized treatment and monitoring.
Curcumin prevents sickness behavior and fever by the modulation of Nrf2 activity in a model of endotoxemia
Authors: Reis Letícia , Oliveira Merelym K , Rojas Viviana Carolina T , Batista Tatiane H , Estevam Elisa S , Vitor-Vieira Fernando , Vilela Fabiana Cardoso , Giusti-Paiva Alexandre 
Published: September 2021

Abstract
Lipopolysaccharide (LPS) is a potent inducer of inflammation, triggering behavioral changes and fever. The present study aimed to evaluate whether pretreatment with curcumin prevents the behavioral changes and fever induced by LPS through the modulation of nuclear factor-erythroid 2 related factor 2 (Nrf2). Male Wistar rats were pretreated for 2 consecutive days with vehicle or curcumin at doses of 25, 50, or 100 mg/kg by oral gavage. The animals intraperitoneally received either vehicle or LPS at a dose of 500 µg/kg. After 2 h, the behavioral responses were assessed through open field test (OFT), social interaction test, forced swim test (FST), and food intake assessment. The febrile response was assessed by telemetry after vehicle or LPS injection to evaluate the effect of curcumin on the thermoregulatory response during the immunological challenge. The pretreatment with curcumin at doses of 50 and 100 mg/kg prevented the reduction of distance traveled on OFT, increased the immobility time of FST, impaired social withdrawal, decreased food intake, and induced fever. In addition, at these doses, it was possible to observe a significant decrease in the plasma levels of TNF-α and IL1-β and an increase in Nrf2 translocation to the cell nucleus during the immunological challenge. Our data provide further evidence of curcumin's ability to prevent LPS-induced sickness behavior and fever possibly by a mechanism related to the modulation of Nrf2 translocation.
Theoretical and Experimental Study on Normal Contact Stiffness of Plane Joint Surfaces with Surface Texturing
Authors: Yin Chaochao , Huang Haihong , Zhou Dan , Liu Zhifeng 
Published: September 2021

Abstract

Effects of surface texturing on the normal contact stiffness of joint surfaces had been investigated by experiments in many previous researches; however, there are relatively few theoretical models in this regard. The rough surface with surface texturing can be divided into two parts: the textured zone and the remaining zone, and their theoretical models are established respectively in this research considering surface morphology and material properties. For the textured zone, micro textures are modeled theoretically based on the three-dimensional topographic data obtained via a VK-X250 type laser profilometer from KEYENCE. For the remaining zone, the model of normal contact stiffness is established based on the fractal theory for the surface topography description and elastoplastic deformation of surface asperities, and the structure function method is used to calculate the fractal dimension of rough surface profiles. In the experiment, the normal contact stiffness of specimens is obtained under different normal loads, and the test results are compared with the theoretical predictions. The result shows that the predictions of proposed theoretical model are in good agreement with the experimental data. For the joint surfaces with Sa > 2.69 μm, the normal contact stiffness can be effectively increased through proper surface texturing.