bluuebunny/crossref_metadata_2025_split huggingface dataset:
Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder
Authors: Alayoubi Abdulfatah M. , Iqbal Muhammad , Aman Hassan , Hashmi Jamil A. , Alayadhi Laila , Al-Regaiey Khalid , Basit Sulman 
Published: March 2024

AbstractAutism spectrum disorder (ASD) is a complicated, lifelong neurodevelopmental disorder affecting verbal and non-verbal communication and social interactions. ASD signs and symptoms appear early in development before the age of 3 years. It is unlikely for a person to acquire autism after a period of normal development. However, we encountered an 8-year-old child who developed ASD later in life although his developmental milestones were normal at the beginning of life. Sequencing the complete coding part of the genome identified a hemizygous nonsense mutation (NM_001367857.2):c.1803C>G; (p.Tyr601Ter) in the gene (SATL1) encoding spermidine/spermine N1-acetyl transferase like 1. Screening an ASD cohort of 28 isolated patients for the SATL1 gene identified another patient with the same variant. Although SATL1 mutations have not been associated with any human diseases, our data suggests that a mutation in SATL1 is the underlying cause of ASD in our cases. In mammals, mutations in spermine synthase (SMS), an enzyme needed for the synthesis of spermidine polyamine, have been reported in a syndromic form of the X-linked mental retardation. Moreover, SATL1 gene expression studies showed a relatively higher expression of SATL1 transcripts in ASD related parts of the brain including the cerebellum, amygdala and frontal cortex. Additionally, spermidine has been characterized in the context of learning and memory and supplementations with spermidine increase neuroprotective effects and decrease age-induced memory impairment. Furthermore, spermidine biosynthesis is required for spontaneous axonal regeneration and prevents α-synuclein neurotoxicity in invertebrate models. Thus, we report, for the first time, that a mutation in the SATL1 gene could be a contributing factor in the development of autistic symptoms in our patients.
In situ gold adsorption experiment at an acidic hot spring using a blue-green algal sheet
Authors: Nozaki Tatsuo , Fukushima Yasuyuki , Okada Satoshi , Takaya Yutaro , Makabe Akiko , Watanabe Masayuki 
Published: March 2024

AbstractGold (Au), as one of the most precious metal resources that is used for both industrial products and private ornaments, is a global investment target, and mining companies are making huge investments to discover new Au deposits. Here, we report in situ Au adsorption in an acidic hot spring by a unique adsorption sheet made from blue-green algae with a high preferential adsorption ability for Au. The results of in situ Au adsorption experiments conducted for various reaction times ranging from 0.2 h to 7 months showed that a maximum Au concentration of 30 ppm was adsorbed onto the blue-green algal sheet after a reaction time of 7 months. The Au concentration in the hot spring water was below the detection limit (< 1 ppt); therefore, Au was enriched by preferential adsorption onto the blue-green algal sheet by a factor of more than ~ 3 × 107. Thus, our gold recovery method has a high potential to recover Au even from an Au-poor solution such as hot spring water or mine wastewater with a low impact on the environment.
Helicobacter pylori components increase the severity of metabolic syndrome and its hepatic manifestations induced by a high fat diet
Authors: Tomaszewska Agata , Gonciarz Weronika , Rechcinski Tomasz , Chmiela Magdalena , Kurdowska Anna K. , Krupa Agnieszka 
Published: March 2024

AbstractThe metabolic syndrome, often accompanied by hepatic manifestations, is a high-risk factor for developing cardiovascular disease. Patients with metabolic dysfunction associated with steatohepatic disease (MASDL) are at significant risk of developing coronary artery disease. Atherosclerosis is a systemic inflammatory disorder in which several factors, including dietary or infectious factors, can cause an inflammatory response. Helicobacter pylori (HP) bacteria have been implicated in the progression of proatherogenic vascular endothelial lesions, moreover, our previous study in an experimental in vivo model of Cavia porcellus showed that HP components and high-fat substances acted synergistically in promoting vascular endothelial inflammation, leading to an early onset of a proatherogenic environment. In the present study, our goal was to determine the contribution of HP components to the development of hepatic manifestations of metabolic syndrome in an experimental model. Our results showed that HP infection in animals exposed to a high-fat diet increased oxidative stress and lipid peroxidation, followed by endothelial lipid deposition, impaired endothelial apoptosis, cell lysis, and increased vascular stiffness. Finally, histopathological analysis of liver tissue showed signs of MASLD development in HP-infected animals fed a high-fat diet.
Development of an advanced liquid chromatography–tandem mass spectrometry measurement system for simultaneous sphingolipid analysis
Authors: Uranbileg Baasanjav , Sakai Eri , Kubota Masayuki , Isago Hideaki , Sumitani Masahiko , Yatomi Yutaka , Kurano Makoto 
Published: March 2024

AbstractMass spectrometry-based lipidomics approaches offer valuable tools for the detection and quantification of various lipid species, including sphingolipids. The present study aimed to develop a new method to simultaneously detect various sphingolipid species that applies to diverse biological samples. We developed and validated a measurement system by employing a single-column liquid chromatography-mass spectrometry system utilizing a normal-phase separation mode with positive ionization. The measurement system provided precision with a coefficient of variant below 20% for sphingolipids in all types of samples, and we observed good linearity in diluted serum samples. This system can measure the following sphingolipids: sphingosine 1-phosphate (S1P), sphingosine (Sph), dihydroS1P (dhS1P), dihydroSph (dhSph), ceramide 1-phosphate (Cer1P), hexosylceramide (HexCer), lactosylceramide (LacCer), dh-ceramide, deoxy-ceramide, deoxy-dh-ceramide, and sphingomyelin (SM). By measuring these sphingolipids in cell lysates where S1P lyase expression level was modulated, we could observe significant and dynamic modulations of sphingolipids in a comprehensive manner. Our newly established and validated measurement system can simultaneously measure many kinds of sphingolipids in biological samples. It holds great promise as a valuable tool for laboratory testing applications to detect overall modulations of sphingolipids, which have been proposed to be involved in pathogenesis processes in a series of elegant basic research studies.
Development of a density-based topology optimization of homogenized lattice structures for individualized hip endoprostheses and validation using micro-FE
Authors: Müller Patrik , Synek Alexander , Stauß Timo , Steinnagel Carl , Ehlers Tobias , Gembarski Paul Christoph , Pahr Dieter , Lachmayer Roland 
Published: March 2024

AbstractProsthetic implants, particularly hip endoprostheses, often lead to stress shielding because of a mismatch in compliance between the bone and the implant material, adversely affecting the implant’s longevity and effectiveness. Therefore, this work aimed to demonstrate a computationally efficient method for density-based topology optimization of homogenized lattice structures in a patient-specific hip endoprosthesis. Thus, the root mean square error (RMSE) of the stress deviations between the physiological femur model and the optimized total hip arthroplasty (THA) model compared to an unoptimized-THA model could be reduced by 81 % and 66 % in Gruen zone (GZ) 6 and 7. However, the method relies on homogenized finite element (FE) models that only use a simplified representation of the microstructural geometry of the bone and implant. The topology-optimized hip endoprosthesis with graded lattice structures was synthesized using algorithmic design and analyzed in a virtual implanted state using micro-finite element (micro-FE) analysis to validate the optimization method. Homogenized FE and micro-FE models were compared based on averaged von Mises stresses in multiple regions of interest. A strong correlation (CCC > 0.97) was observed, indicating that optimizing homogenized lattice structures yields reliable outcomes. The graded implant was additively manufactured to ensure the topology-optimized result’s feasibility.
Preliminary characterization of rectification for transradial prosthetic sockets
Authors: Ngan Calvin C. , Pendse Vishal , Sivasambu Harry , Ouellette Elaine , Ready Neil , Andrysek Jan 
Published: March 2024

AbstractAchieving proper socket fit is crucial for the effective use of a prosthesis. However, digital socket design lacks standardization and presents a steep learning curve for prosthetists. While research has focused on digital socket design for the lower-limb population, there is a research gap in upper-limb socket design. This study aimed to characterize the design (rectification) process for the transradial socket, specifically the three-quarter Northwestern-style design, towards the development of a more systematic, data-driven socket design approach. Fourteen (n = 14) pairs of unrectified and rectified plaster models were compared. Six common rectification zones were identified through shape analysis, with zones of plaster addition being the most prominent in terms of volume and surface area. A novel 3D vector mapping technique was employed, which revealed that most of the shape changes occurred in the anterior–posterior and proximal–distal directions. Overall, the interquartile range of each rectification zone demonstrated reasonable consistency in terms of volume, surface deviation, and 3D vector representation. The initial findings from this study support the potential for quantitively modelling the transradial socket design process. This opens the door for developing tools for categorizing and predicting socket designs across diverse populations through the application of techniques such as machine learning.
From periphery immunity to central domain through clinical interview as a new insight on schizophrenia
Authors: Krzyściak Wirginia , Szwajca Marta , Śmierciak Natalia , Chrzan Robert , Turek Aleksander , Karcz Paulina , Bryll Amira , Pilecki Maciej , Morava Eva , Ligęzka Anna , Kozicz Tamas , Mazur Paulina , Batko Bogna , Skalniak Anna , Popiela Tadeusz 
Published: March 2024

AbstractIdentifying disease predictors through advanced statistical models enables the discovery of treatment targets for schizophrenia. In this study, a multifaceted clinical and laboratory analysis was conducted, incorporating magnetic resonance spectroscopy with immunology markers, psychiatric scores, and biochemical data, on a cohort of 45 patients diagnosed with schizophrenia and 51 healthy controls. The aim was to delineate predictive markers for diagnosing schizophrenia. A logistic regression model was used, as utilized to analyze the impact of multivariate variables on the prevalence of schizophrenia. Utilization of a stepwise algorithm yielded a final model, optimized using Akaike’s information criterion and a logit link function, which incorporated eight predictors (White Blood Cells, Reactive Lymphocytes, Red Blood Cells, Glucose, Insulin, Beck Depression score, Brain Taurine, Creatine and Phosphocreatine concentration). No single factor can reliably differentiate between healthy patients and those with schizophrenia. Therefore, it is valuable to simultaneously consider the values of multiple factors and classify patients using a multivariate model.
Direct observation of magnetic domain walls in glass-coated submicronic amorphous wires
Authors: Óvári T.-A. , Ababei G. , Stoian G. , Corodeanu S. , Chiriac H. , Lupu N. 
Published: March 2024

AbstractResults on the magnetic domain walls in rapidly solidified magnetostrictive and non-magnetostrictive amorphous submicronic wires are reported. Utilizing Lorentz transmission electron microscopy (LTEM) for the first time in this context, we have visualized and analyzed the domain walls in such ultra-thin amorphous wires. All the investigated samples display vortex magnetic domain walls, regardless of wire composition or diameter. In non-magnetostrictive wires, the domain walls maintain their structure and symmetry under varying magnetic field conditions. In contrast, magnetostrictive wires show an elongation of their domain walls upon magnetic field application, a response linked to the magnetoelastic coupling between magnetostriction and internal stresses induced during wire preparation. This study advances the understanding of magnetization reversal processes in amorphous submicronic wires. The insights gained are crucial for future developments in miniaturized magnetic devices.
Oral health-related quality of life, adaptation/discomfort during open bite treatment with spurs: complementary analysis from a randomized clinical trial
Authors: Aliaga-Del Castillo Aron , Marañón-Vásquez Guido Artemio , Janson Guilherme , Vilanova Lorena , Miranda Felicia , Massaro Camila , Bellini-Pereira Silvio Augusto , Arriola-Guillén Luis Ernesto , Yatabe Marilia , Ruellas Antonio Carlos , Cevidanes Lucia , Garib Daniela 
Published: March 2024

AbstractThis single-center trial aimed to longitudinally compare the oral health-related quality of life (OHRQOL), adaptation and discomfort during anterior open bite (AOB) treatment with lingual spurs and build-ups (SBU) versus spurs only (S) approaches. Children (7–11 years) with AOB were randomly allocated into two treatment groups (SBU or S). The Child Perception Questionnaire (CPQ8–10) was applied 1 and 12 months after installation of the appliances. Questionnaires evaluating functional adaptation and discomfort during the first month of treatment were also applied. A visual analog scale (VAS) was used in these questionnaires. Generalized mixed models were used for analyzing OHRQOL and discomfort data. Generalized linear models were used to assess adaptation outcomes (α = 0.05). The SBU group included 24 patients (7 males and 17 females; mean age 8.2 years) and the S group included 25 patients (11 males and 14 females; mean age 8.3 years). Regardless of the treatment type, overall OHRQOL scores at 12 months were 0.69 times those recorded at 1 month after the appliances installation (i.e., ~ 31% reduction; exp (β) = 0.69; 95% CI: 0.55, 0.88). A significant interaction between treatment and time was detected for the ‘functional limitations’ domain. For this domain, a significant improvement from the first to the twelfth month was observed in the S group (P < 0.001). Patients in both treatment groups showed similar and easy adaptation to the appliances. Independent of the type of treatment, tongue-related discomfort decreased over time. One week and one month after the appliance’s delivery, the discomfort scores were 0.19 (i.e., ~ 81% reduction; exp (β) = 0.19; 95% CI: 0.13, 0.28; P < 0.001) and 0.02 (i.e., ~ 98% reduction; exp (β) = 0.02; 95% CI: 0.01, 0.07; P < 0.001) times, respectively, those issued immediately after the installation of the appliances. Regardless of treatment type; overall OHRQOL improved from the first to the twelfth month of AOB treatment. The functional limitations score decreased in the S group. Children showed easy adaptation, and their discomfort decreased 1 week after the installation of the appliances.Trial registration: Clinicaltrials.gov; NCT03702881, date of registration: October 11, 2018.
Localized surface plasmon resonance sensing of Trenbolone acetate dopant using silver nanoparticles
Authors: Juma Moses Wabwile , Birech Zephania , Mwenze Nancy Mwikali , Ondieki Annah Moraa , Maaza Malik , Mokhotjwa Simon Dhlamini 
Published: March 2024

AbstractIn this work, localized surface plasmon resonance (LSPR) sensing as applicable in the detection of Trenbolone acetate dopant is demonstrated. We show that the LSPR of the Trenbolone acetate/silver nanoparticle (Tren Ac/AgNPs) complex is sensitive to changes in the adsorbent concentration. The results show an average redshift of + 18 nm in the LSPR peak with variations in intensity and broadening behavior of the LSPR band of the Tren Ac/AgNPs complex. AgNPs were synthesized using laser ablation in liquid (LAL) technique with water as the solvent. UV–Vis spectroscopy was used for absorbance measurements and particle size and morphology were monitored using scanning electron microscopy (SEM). The aggregation behavior of the Tren Ac/AgNPs complex was monitored using energy-dispersive X-ray spectroscopy (EDS). Molecular Electrostatic Potential (MEP) and the HOMO–LUMO orbitals of the optimized Trenbolone acetate structure were obtained using Density Function Theory (DFT). The molecule was optimized at the B3LYP level of theory using the 6–311 basis set carried out using the Gaussian 09 software package. The results showed that O2− is Trenbolone acetate’s active site that would interact with Ag+ to form a complex that would influence the plasmon behavior. The results presented in this work demonstrate the feasibility of LSPR for anabolic androgenic steroid detection.
Performance simulation of the perovskite solar cells with Ti3C2 MXene in the SnO2 electron transport layer
Authors: Meskini Mahdiyeh , Asgharizadeh Saeid 
Published: March 2024

AbstractMXenes, a class of two-dimensional (2D) transition metal carbides and nitrides, have a wide range of potential applications due to their unique electronic, optical, plasmonic, and other properties. SnO2–Ti3C2 MXene with different contents of Ti3C2 (0.5, 1.0, 2.0, 2.5 wt‰), experimentally, has been used as electron transport layers (ETLs) in Perovskite Solar Cells (PSCs). The SCAPS-1D simulation software could simulate a perovskite solar cell comprised of CH3NH3PbI3 absorber and SnO2 (or SnO2–Ti3C2) ETL. The simulation results like Power Conversion Efficiency (PCE), Open circuit voltage (VOC), Short circuit current density (JSC), Fill Factor (FF), and External Quantum Efficiency (EQE) have been compared within samples with different weight percentages of Ti3C2 MXene incorporated in ETL. Reportedly, the ETL of SnO2 with Ti3C2 (1.0 wt‰) effectively increases PCE from 17.32 to 18.32%. We simulate the role of MXene in changing the ideality factor (nid), photocurrent (JPh), built-in potential (Vbi), and recombination resistance (Rrec). The study of interface recombination currents and electric field shows that cells with 1.0 wt‰ of MXene in SnO2 ETL have higher values of ideality factor, built-in potential, and recombination resistance. The correlation between these values and cell performance allows one to conclude the best cell performance for the sample with 1.0 wt‰ of MXene in SnO2 ETL. With an optimization procedure for this cell, an efficiency of 27.81% is reachable.
Genetic correlations and causal relationships between cardio-metabolic traits and sepsis
Authors: Zhang Zhongheng , Chen Lin , Zhang Haoyang , Xiao Wei , Yang Jie , Huang Jiajie , Hu Qichao , Jin Ketao , Hong Yucai 
Published: March 2024

AbstractCardio-metabolic traits have been reported to be associated with the development of sepsis. It is, however, unclear whether these co-morbidities reflect causal associations, shared genetic heritability, or are confounded by environmental factors. We performed three analyses to explore the relationships between cardio-metabolic traits and sepsis. Mendelian randomization (MR) study to evaluate the causal effects of multiple cardio-metabolic traits on sepsis. Global genetic correlation analysis to explore the correlations between cardio-metabolic traits and sepsis. Local genetic correlation (GC) analysis to explore shared genetic heritability between cardio-metabolic traits and sepsis. Some loci were further examined for related genes responsible for the causal relationships. Genetic associations were obtained from the UK Biobank data or published large-scale genome-wide association studies with sample sizes between 200,000 to 750,000. In MR, we found causality between BMI and sepsis (OR: 1.53 [1.4–1.67]; p < 0.001). Body mass index (BMI), which is confirmed by sensitivity analyses and multivariable MR adjusting for confounding factors. Global GC analysis showed a significant correlation between BMI and sepsis (rg = 0.55, p < 0.001). More cardio-metabolic traits were identified to be correlated to the sepsis onset such as CRP (rg = 0.37, p = 0.035), type 2 diabetes (rg = 0.33, p < 0.001), HDL (rg = − 0.41, p < 0.001), and coronary artery disease (rg = 0.43, p < 0.001). Local GC revealed some shared genetic loci responsible for the causality. The top locus 1126 was located at chromosome 7 and comprised genes HIBADH, JAZF1, and CREB5. The present study provides evidence for an independent causal effect of BMI on sepsis. Further detailed analysis of the shared genetic heritability between cardio-metabolic traits and sepsis provides the opportunity to improve the preventive strategies for sepsis.
Microwave graphitic nitrogen/boron ultradoping of graphene
Authors: Bhushan Rebti , Bandyopadhyay Arkamita , Kallatt Sangeeth , Thakur Awalendra K. , Pati Swapan K. , Kumar Prashant 
Published: March 2024

AbstractInsufficient carrier concentration and lack of room temperature ferromagnetism in pristine graphene limit its dream applications in electronic and spintronic chips. While theoretical calculations have revealed that graphitic ultradoping can turn graphene into semiconducting and room temperature ferromagnetic, the exotic set of thermodynamic conditions needed for doping result in defects and functionalities in graphene which end up giving significant electronic scattering. We report our discovery of microwave ultradoping of graphene with N > 30%, B ~ 19%, and co-doping to form BCN phases (B5C73N22, B8C76N16, and B10C77N13). An unprecedented level of graphitic doping ~95% enhances carrier concentration up to ~9.2 × 1012 cm−2, keeping high electronic mobility ~9688 cm2 V−1s−1 intact, demonstrated by field effect transistor measurements. Room temperature ferromagnetic character with magnetization ~4.18 emug−1 is reported and is consistent with our DFT band structure calculations. This breakthrough research on tunable graphitic ultradoping of 2D materials opens new avenues for emerging multi-functional technological applications.
Speech-induced suppression during natural dialogues
Authors: Gonzalez Joaquin E. , Nieto Nicolás , Brusco Pablo , Gravano Agustín , Kamienkowski Juan E. 
Published: March 2024

AbstractWhen engaged in a conversation, one receives auditory information from the other’s speech but also from their own speech. However, this information is processed differently by an effect called Speech-Induced Suppression. Here, we studied brain representation of acoustic properties of speech in natural unscripted dialogues, using electroencephalography (EEG) and high-quality speech recordings from both participants. Using encoding techniques, we were able to reproduce a broad range of previous findings on listening to another’s speech, and achieving even better performances when predicting EEG signal in this complex scenario. Furthermore, we found no response when listening to oneself, using different acoustic features (spectrogram, envelope, etc.) and frequency bands, evidencing a strong effect of SIS. The present work shows that this mechanism is present, and even stronger, during natural dialogues. Moreover, the methodology presented here opens the possibility of a deeper understanding of the related mechanisms in a wider range of contexts.