bluuebunny/crossref_metadata_2025_split huggingface dataset:
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld‐Rieger Syndrome
Authors: Farris Joseph , Khanna Cheryl , Smadbeck James B. , Johnson Sarah H. , Bothun Erick , Kaplan Tyler , Hoffman Francis , Polonis Katarzyna , Oliver Gavin , Reis Linda M. , Semina Elena V. , Rust Laura , Hoppman Nicole L. , Vasmatzis George , Marcou Cherisse A. , Schimmenti Lisa A. , Klee Eric W. 
Published: January 2024

AbstractAxenfeld‐Rieger Syndrome (ARS) type 1 is a rare autosomal dominant condition characterized by anterior chamber anomalies, umbilical defects, dental hypoplasia, and craniofacial anomalies, with Meckel's diverticulum in some individuals. Here, we describe a clinically ascertained female of childbearing age with ARS for whom clinical targeted sequencing and deletion/duplication analysis followed by clinical exome and genome sequencing resulted in no pathogenic variants or variants of unknown significance in PITX2 or FOXC1. Advanced bioinformatic analysis of the genome data identified a complex, balanced rearrangement disrupting PITX2. This case is the first reported intrachromosomal rearrangement leading to ARS, illustrating that for patients with compelling clinical phenotypes but negative genomic testing, additional bioinformatic analysis are essential to identify subtle genomic abnormalities in target genes.
Rapid and Bifunctional Chemoselective Metabolome Analysis of Liver Disease Plasma Using the Reagent 4‐Nitrophenyl‐2H‐azirine
Authors: Lin Weifeng , Gerullat Lars , Braadland Peder R. , Fournier Anaïs , Hov Johannes R. , Globisch Daniel 
Published: January 2024

AbstractPrimary sclerosing cholangitis (PSC) is a chronic inflammatory disease of the bile ducts that has been associated with diverse metabolic carboxylic acids. Mass spectrometric techniques are the method of choice for their analysis. However, the broad investigation of this metabolite class remains challenging. Derivatization of carboxylic acids represents a strategy to overcome these limitations but available methods suffer from diverse analytical challenges. Herein, we have designed a novel strategy introducing 4‐nitrophenyl‐2H‐azirine as a new chemoselective moiety for the first time for carboxylic acid metabolites. This moiety was selected as it rapidly forms a stable amide bond and also generates a new ketone, which can be analyzed by our recently developed quant‐SCHEMA method specific for carbonyl metabolites. Optimization of this new method revealed a high reproducibility and robustness, which was utilized to validate 102 metabolic carboxylic acids using authentic synthetic standard conjugates in human plasma samples including nine metabolites that were newly detected. Using this sequential analysis of the carbonyl‐ and carboxylic acid‐metabolomes revealed alterations of the ketogenesis pathway, which demonstrates the vast benefit of our unique methodology. We anticipate that the developed azirine moiety with rapid functional group transformation will find broad application in diverse chemical biology research fields.
Evaluation of fresh state, rheological properties, and compressive strength performance of cementitious system with grinding aids
Authors: Kaya Yahya , Kobya Veysel , Mardani Ali 
Published: January 2024

AbstractGrinding aids (GA) affect the fresh and hardened state properties of cement systems in addition to the economic and ecological advantages they provide. Nevertheless, there is not enough information in the literature regarding the effect of GA utilization on the rheological properties of cementitious systems. In this study, the effect of different types of GA utilization on the grinding efficiency, setting time, and physical properties of cement and rheological properties of cement paste was investigated. Besides, adsorption of the water‐reducing admixture (polycarboxylate ether [PCE]) to the cement containing GA was investigated by total organic carbon analysis. According to the results, regardless of the type of GA, while the grinding efficiency was positively affected by GA utilization in cement, the adsorption degree of PCE, some fresh and rheological properties of the mixtures were negatively affected. With the use of GA, an increase was observed in the early age compressive strength of mortar mixtures. Consequently, the properties of cementitious systems containing GA should be taken into consideration to assess GA performance in addition to the grinding efficiency.
Poly(butylene terephthalate)/poly(ethylene glycol) blends with compatibilizers
Authors: Lee Hayeong , Lee Tae‐Hee , Kim Hyungsu , Jang Keon‐Soo 
Published: January 2024

AbstractPolymer blend systems offer a versatile approach for tailoring the properties of polymer materials for specific applications. In this study, we investigated the compatibility of polybutylene terephthalate (PBT) and poly(ethylene glycol) (PEG) blends processed using a twin‐screw extruder, with the aim of enhancing their compatibility. Phthalic anhydride (PAn) and phthalic acid (PAc) were used as potential compatibilizers at different concentrations to improve interfacial interactions between PBT and PEG. Blend morphologies were characterized using scanning electron microscopy, which revealed improved interfacial compatibility and reduced phase separation with the incorporation of small amounts of PAn and PAc. Differential scanning calorimetry analysis indicated changes in the melting temperature (Tm) and glass transition temperature (Tg) of the blends owing to the compatibilizing effects of PAn and PAc. Dynamic mechanical analysis further corroborated the influence of the compatibilizers on the Tg and viscoelastic behavior. Thermogravimetric analysis demonstrated enhanced thermal stability with the addition of either PAn or PAc. Rheological measurements indicated an increase in complex viscosity with increasing compatibilizer content, indicating improved compatibility. The degradation point (Td) of PBT/PEG blend increased from 158 to 200 and 319°C with the incorporation of 5 phr PAn and 2 phr PAc, respectively. Mechanical properties, including tensile strength, Young's modulus, and Izod impact strength, were evaluated. For instance, the tensile strength of PBT/PEG blend was enhanced from 43.5 to 48.7 and 49.7 MPa by incorporating 5 phr PAn and 2 phr PAc, respectively. However, the impact strength of PBT/PEG blend increased from 3.0 to 4.3 and 4.2 kJ/m2 with the addition of 1 phr PAn and 1 phr PAc, respectively. The findings demonstrated that adding 5 phr PAn or 2 phr PAc to the PBT/PEG blends was advantageous, achieving a harmony of performance benefits and compromises. Rheological observations contributed significantly to the mechanical and thermal properties. Overall, the study highlights the significance of utilizing PAn and PAc as effective compatibilizers for enhancing the properties of PBT/PEG blends, making them potential candidates for various applications.
Toward an open‐source 3D‐printable laboratory
Authors: McNair Mason C. , Cocioba Sebastian C. , Pietrzyk Peter , Rife Trevor W. 
Published: January 2024

AbstractPremiseLow‐cost, repairable lab equipment is rare within the biological sciences. By lowering the costs of entry using 3D printing and open‐source hardware, our goal is to empower both amateur and professional scientists to conduct research.MethodsWe developed a modular system of 3D‐printable designs called COBLE (Collection of Bespoke Laboratory Equipment), including novel and remixed 3D‐printable lab equipment that can be inexpensively printed, assembled, and repaired for a fraction of the cost of retail equivalents.ResultsHere we present novel tools that utilize 3D printing to enable a wide range of scientific experiments. We include additional resources for scientists and labs that are interested in utilizing 3D printing for their research.DiscussionBy describing the broad potential that 3D‐printed designs can have in the biological sciences, we hope to inspire others to implement and improve upon these designs, improving accessibility and enabling science for all.
Strategic planning and optimal tactical management of regional bioethanol supply‐chain system with high spatial resolution and uncertainties
Authors: Wang Mengmeng , Ji Ling , Xie Yulei 
Published: January 2024

AbstractAlthough bioethanol is viewed as a promising alternative to traditional fossil fuels, its commercialization is hindered by high production costs and uncertain policies. This study proposes a novel integrated framework to support decision making in the bioethanol supply‐chain system under complex uncertainties. By considering various geographical, economic, and environmental factors, potentially suitable sites are identified using a geographic information systems‐based (GIS‐based) multi‐criteria decision‐making approach. Then, a two‐stage stochastic, fuzzy, chance‐constrained programming model is developed to determine investment decisions (i.e. site and size of biorefineries) and operational strategies (i.e. production schedule, biomass supply network, etc.) in the face of uncertainties. The proposed research framework is tailored for a case study in Henan Province, China, which suggests the installation of six biorefineries with a total capacity of 679.11 million liters to reduce local carbon emissions by 1.54 million tons. Decision makers with different risk preferences can use this method to find optimal tradeoff strategies between system cost and risk under uncertainties. Sensitivity analysis also reveals that increasing the proportion of bioethanol blending targets is the key exogenous variable to promote the use of local biomass resources.
Problematising teachers' accounts of privilege in elite high schools
Authors: Pinto‐Dror Ilanit , Shoshana Avihu 
Published: January 2024

AbstractThe research question at the core of this paper concerns how teachers in elite Israeli high schools explain their educational work in this context, given its central role in establishing and perpetuating privilege in the current polarised era. To answer this question, we conducted 28 interviews with teachers from three elite high schools in Israel. The findings reveal three ways teachers justified their educational work in elite schools: cultivating the ‘serving elite’, helping shape elite students' leftist political orientation and future voting behaviour (emphasising the idea that political leftism serves as a mitigating force against the excesses of plutocracy) and fulfilling elite children's right to a level of education commensurate with their ability. The discussion problematises these justifications by highlighting their features, which, in turn, contribute to a complex understanding of how privilege functions and how advantages and inequality are produced and perpetuated in exclusive and exclusionary elite spaces.
Plasma antioxidant potential measured by total radical trapping antioxidant parameter in a cohort of multiple sclerosis patients
Authors: Kartau Marge , Kartau Joonas , Pohja Marjatta , Verkkoniemi‐Ahola Auli 
Published: January 2024

AbstractBackgroundOxidative injury has been implicated as a mediator of demyelination, axonal damage, and neurodegeneration in multiple sclerosis (MS). There is a high demand for oxidative injury biomarkers. The aim of the study was to evaluate MS patients’ plasma antioxidant potential using the total radical trapping parameter (TRAP) assay and examine its usefulness as an MS disease biomarker.MethodsA total number of 112 MS patients underwent an analysis of TRAP. In addition, plasma uric acid (UA) levels were analyzed. The neurological and radiological data were collected from patient records from Helsinki University Hospital during 2012–2013 when first‐line injectables of moderate‐efficacy, natalizumab (NTZ), and fingolimod (FTY) of high efficacy disease modifying therapies and in some cases azathioprine (AZT) were used to treat MS.ResultsTRAP values were negatively associated with expanded disability status scale (EDSS) score with p‐value .052, β = −28. There was also a negative association in TRAP values between patients with no medication (n = 22, TRAP mean 1255 μmol/L (95% confidence interval [CI] 1136–1374)) and patients who received NTZ, p‐value .020 (n = 19, TRAP mean was 991 μmol/L (95% CI 849–1133) or FTY treatment, p‐value .030 (n = 5, TRAP mean 982 μmol/L (95% CI 55–1909). Due to a small sample size, these results were not significant after applying a false discovery rate correction at a 0.05 significance level but are worth highlighting. Men in the study had higher TRAP values, p‐value = .001 (TRAP mean 1320 ± 293 μmol/L) than women (TRAP mean 1082 ± 288 μmol/L). UA was positively associated with TRAP values, p‐value <.001 and UA levels in men (UA mean 334.5 ± 62.6 μmol/L) were higher compared to women (UA mean 240 ± 55.8 μmol/L), t‐test p‐value <.001. The significant difference in TRAP levels between genders, with men showing higher TRAP values than women, may be attributed to the variation in UA levels.ConclusionOur findings suggest that lower plasma antioxidant potential is linked to more severe disability measured by EDSS scores. Patients treated with NTZ and FTY had reduced antioxidant power, which might be influenced by the active MS disease rather than the treatments themselves. The study reveals a strong positive correlation between UA levels and TRAP, particularly among women. However, men on average had better antioxidant potential than women. Neither the disease type nor the duration influences TRAP levels. While serving as a marker of antioxidant potential, plasma TRAP in MS patients does not reliably reflect overall oxidative stress (OS) and should not be solely used as an indicator of OS.
Racial differences in treatment and survival among older patients with multiple myeloma
Authors: Wang Rong , Neparidze Natalia , Ma Xiaomei , Colditz Graham A. , Chang Su‐Hsin , Wang Shi‐Yi 
Published: January 2024

AbstractBackgroundTreatments for multiple myeloma (MM) have evolved over time and improved MM survival. While racial differences in MM treatment and prognosis between non‐Hispanic African American (NHAA) and non‐Hispanic White (NHW) patients are well‐established, it is unclear whether they have persisted after the introduction of novel agents.MethodsUsing the Surveillance, Epidemiology, and End Results‐Medicare linked database, our study investigated racial difference in the receipt of treatment within 1 year following diagnosis and assessed survival outcomes among Medicare beneficiaries (≥66 years) diagnosed with MM from 2007 to 2017. We applied multivariable Cox proportional hazards models to estimate the association between race and survival and presented hazard ratios (HRs).ResultsOf 2094 NHAA and 11,983 NHW older patients with MM, 59.5% and 64.8% received treatment during the first year, respectively. Discrepancy in the proportion of patients receiving treatment between the two groups increased from 2.9% in 2007 to 2009 to 6.9% in 2014–2017. After controlling for relevant factors, patients who received treatment within the first year had lower mortality than those who did not (HR = 0.90, 95% confidence interval [CI]: 0.86–0.94). NHAA patients had a lower probability to receive treatments during the first year than NHW patients (HR = 0.91, 95% CI: 0.85–0.97) but had lower mortality (HR = 0.94, 95% CI: 0.88–1.00). The lower mortality was only observed among patients who received no treatment (HR = 0.84, 95% CI: 0.77–0.93); NHAA and NHW patients who received treatment had similar survival (p = 0.63).ConclusionsThe increasing racial disparity in treatment utilization over time is concerning. Efforts are needed to eliminate the barriers of receiving treatment.
Biocatalytic Regioselective O‐acylation of Sesquiterpene Lactones from Chicory: A Pathway to Novel Ester Derivatives
Authors: Mosheim J. Rodriguez , Ruggieri F. , Humeau C. , Hance P. , Willand N. , Hilbert J. L. , Heuson E. , Froidevaux R. 
Published: January 2024

AbstractWe report the first biocatalytic modification of sesquiterpene lactones (STLs) found in the chicory plants, specifically lactucin (Lc), 11β,13‐dihydrolactucin (DHLc), lactucopicrin (Lp), and 11β,13‐dihydrolactucopicrin (DHLp). The selective O‐acylation of their primary alcohol group was carried out by the lipase B from Candida antarctica (CAL‐B) using various aliphatic vinyl esters as acyl donors. Perillyl alcohol, a simpler monoterpenoid, served as a model to set up the desired O‐acetylation reaction by comparing the use of acetic acid and vinyl acetate as acyl donors. Similar conditions were then applied to DHLc, where five novel ester chains were selectively introduced onto the primary alcohol group, with conversions going from >99 % (acetate and propionate) to 69 % (octanoate). The synthesis of the corresponding O‐acetyl esters of Lc, Lp, and DHLp was also successfully achieved with near‐quantitative conversion. Molecular docking simulations were then performed to elucidate the preferred enzyme‐substrate binding modes in the acylation reactions with STLs, as well as to understand their interactions with crucial amino acid residues at the active site. Our methodology enables the selective O‐acylation of the primary alcohol group in four different STLs, offering possibilities for synthesizing novel derivatives with significant potential applications in pharmaceuticals or as biocontrol agents.
Pd/fMC−NiO Synergistic, Promotional Effect and Cooperation Induced Electrocatalysis towards Ethylene Glycol Electrooxidation: Experimental Approach and DFT Calculations
Authors: Matthews Thabo , Dolla Tarekegn H. , Mbokazi Siyabonga P. , Chabalala Makhaokane P. , Gallenberger Julia , Hofmann Jan P. , Muriithi Kiarii E. , Govender Penny P. , Maxakato Nobanathi W. 
Published: January 2024

AbstractDirect alcohol fuel cells (DAFCs) face several challenges such as carbon support corrosion, poor kinetics, and long‐term stability, requiring improved electrocatalyst support development. We synthesized 5 %Pd/fMC−NiO using a microwave‐assisted sodium borohydride‐enhanced polyol method. X‐ray photoelectron spectroscopy, transmission electron microscope, and X‐ray diffractometry probed the material's surface composition, morphology, and structure. ICP‐OES is employed to quantify palladium loading. Fourier Transform Infrared Spectroscopy mapped the functional groups. Cyclic voltammetry, linear sweep voltammetry, electrochemical impedance spectroscopy, and chronoamperometry show that the 5 %Pd/fMC−NiO has the lowest activation energy, and with that, the best electroactivity, which is ~16 times higher compared to commercial Pd/C; additionally, the catalyst shows anti‐poisoning properties, and long‐term durability. This is merited to the cooperation and promotional effect of Pd/fMC−NiO. The electrocatalysts’ electroactivity improved via enhanced electron movement instigated by NiO. This study introduced the parallelism effect concept borrowed from the graphite structure for controlled electron channeling the 5 % Pd/fMC−NiO electrocatalyst. The theoretical calculations corroborated the experimental findings that our approach favors anchoring and dispersing Pd NPs uniformly, demonstrating NiO′s cooperative and promotional effects. Thus, opening new opportunities for the development of electrocatalysts for high‐performance DAFCs.
Efficient Solid‐State Ultraviolet Emission of 2′,5′‐Dioxy‐p‐terphenyls
Authors: Shimizu Masaki , Nishimura Kenta , Okusa Aoi , Sakurai Tsuneaki 
Published: January 2024

AbstractOrganic fluorophores that efficiently emit ultraviolet (UV) light in the solid state are expected to accelerate the development of potentially attractive UV‐OLEDs. Herein, we demonstrate that 2′,5′‐dialkoxy‐, 2′,5′‐bis(siloxy)‐, and 2′‐(alkoxy)‐5′‐(siloxy)‐p‐terphenyls and 2,5‐dioxy‐1,4‐(1‐naphthyl)benzenes are efficient UV‐emitting solid fluorophores. The teraryls were prepared by a Pd‐catalyzed Suzuki–Miyaura cross‐coupling reaction of readily available 2,5‐dialkoxy‐1,4‐diiodobenzenes with phenyl‐ and (1‐naphthyl)boronic acid, followed by dealkylation–silylation. The dioxy‐p‐teraryls are thermally stable, with some having glass transition temperatures ranging from −8 to 47 °C. Single‐crystal X‐ray diffraction analysis of 2′,5′‐bis(triphenylsiloxy)‐ and 2′‐(hexyloxy)‐5′‐(triphenylsiloxy)‐p‐terphenyls revealed that the terphenyl moieties adopted twisted conformations, and there were no intramolecular π–π interactions in the crystal packing. The terphenyls in CH2Cl2 fluoresced at 370–386 nm with quantum yields of 0.30–0.44. Efficient UV emission (362–391 nm) of the teraryls was observed in the solid state, with quantum yields of 0.20–0.46. Density functional calculations suggest that the optical excitation of the terphenyls involves intramolecular charge transfer from the ethereal oxygen, with the moieties accepting the charge transfer depending on the substituents on the ethereal oxygen atoms.
Efficient task scheduling in cloud networks using ANN for green computing
Authors: Zavieh Hadi , Javadpour Amir , Sangaiah Arun Kumar 
Published: January 2024

SummaryRecently, there has been a growing emphasis on reducingenergy consumption in cloud networks and achieving green computing practices toaddress environmental concerns and optimize resource utilization. In thiscontext, efficient task scheduling minimizes energy usage and enhances overallsystem performance. To tackle the challenge ofenergy‐efficient task allocation, we propose a novel approach that harnessesthe power of Artificial Neural Networks (ANN). Our Artificial neural network Dynamic Balancing (ANNDB) method is designed toachieve green computing in cloud environments. ANNDB leverages the feed‐forwardnetwork architecture and a multi‐layer perceptron, effectively allocatingrequests to higher‐power and higher‐quality virtual machines, resulting inoptimized energy utilization. Through extensive simulations, wedemonstrate the superiority of ANNDB over existing methods, including WPEG,IRMBBC, and BEMEC, in terms of energy and power efficiency. Specifically, ourproposed ANNDB method exhibits substantial improvements of 13.81%, 8.62%, and9.74% in the Energy criterion compared to WPEG, IRMBBC, and BEMEC,respectively. Additionally, in the Power criterion, the method achievesperformance enhancements of 3.93%, 4.84%, and 4.19% over the mentioned methods.The findings from this research hold significant promise for organizations seekingto optimize their cloud computing environments while reducing energyconsumption and promoting sustainable computing practices. By adopting theANNDB approach for efficient task scheduling, businesses and institutions cancontribute to green computing efforts, reduce operational costs, and make moreenvironmentally friendly choices without compromising task allocationperformance.