bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome
Authors: Garzon Jenny P. , Patete Andrea , Aschbacher‐Smith Lindsey , Qu'd Dima , Kelly‐Mancuso Geraldine , Raski Carolyn R. , Weisman Allison Goetsch , Hankins Madison , Sawin Michael , Kim Katherine , Drackley Andy , Zeid Janice , Weaver K. Nicole , Hopkin Robert J. , Saal Howard M. , Charrow Joel , Schorry Elizabeth , Listernick Robert , Simpson Brittany N. , Prada Carlos E. 
Published: July 2024

AbstractNeurofibromatosis type 1 (NF‐1) microdeletion syndrome accounts for 5 to 11% of individuals with NF‐1. The aim of our study was to characterize a large cohort of individuals with NF‐1 microdeletion syndrome and expand its natural history. We conducted a retrospective chart review from 1994 to 2024 of individuals with NF‐1 microdeletion syndrome followed at two large Neurofibromatosis Clinics. This cohort consists of 57 individuals with NF‐1 microdeletion syndrome (28 type‐1, 4 type‐2, 2 type‐3, 9 atypical deletions, and 14 indeterminate). We note 38/56 (67.9%) with describable facial features, 25/57 (43.8%) with plexiform neurofibromas, and 3/57 (5.2%) with malignant peripheral nerve sheath tumors within the observed period. The most reported neurodevelopmental manifestations from school‐age or older individuals included 39/49 (79.6%) with developmental delays, 35/49 (71.4%) with expressive and/or receptive speech delays, 33/41 (80.5%) with learning difficulties, and 23/42 (54.8%) with attention‐deficit/hyperactivity disorder. Full‐scale IQ testing data was available for 22 individuals (range: 50–96). Of the 21 adults in this cohort, 14/21 (66.7%) graduated from high school, and 4/21 (19.0%) had some college experience. Many individuals received academic support (i.e., special education, individual education plan). In this cohort, neurocognitive outcomes in adults varied more than typically reported in the literature.
Green Solvent γ‐Valerolactone (GVL) Facilitates Photocatalytic C−H Bond Activation
Authors: Wu Xuejiao , Xie Shunji , Vangestel Dario , Zhao He , Sels Bert 
Published: July 2024

AbstractSolvents can significantly influence chemical reactions in condensed phases. Their critical properties are increasingly recognized in various research domains such as organic synthesis and biomass valorization. However, in semiconductor photocatalysis, solvents are primarily viewed as mediums for dissolving and diffusing substances, with their potential beneficial effects on photocatalytic conversions often overlooked. Additionally, common photocatalysis solvents like acetonitrile (ACN) pose serious safety and environmental concerns. In this study, we demonstrate that novel and safe green solvents, such as γ‐valerolactone (GVL), can significantly enhance the performance of semiconductor photocatalysis for C−H bond activation. Non‐specific solvent‐solute interactions are the primary contributors to increased photocatalytic activity in the self‐coupling of benzylic compounds. Specifically, GVL′s large dielectric constant and high refractive index lower the energy barrier for the rate‐determining C−H bond activation step, facilitating a faster coupling reaction. The versatility of GVL is further demonstrated in reactions with multiple reagents and in various oxidation and reduction photocatalytic systems beyond classic C−H bond activation. This work not only pioneers the use of green solvents but also provides comprehensive insights for proper solvent selection in semiconductor photocatalysis.
Stable Lithium Oxygen Batteries Enabled by Solvent‐diluent Interaction in N,N‐dimethylacetamide‐based Electrolytes
Authors: Yang Dong‐Yue , Du Jia‐Yi , Yu Yue , Fan Ying‐Qi , Huang Gang , Zhang Xin‐Bo , Zhang Hong‐Jie 
Published: July 2024

AbstractIn the pursuit of next‐generation ultrahigh‐energy‐density Li−O2 batteries, it is imperative to develop an electrolyte with stability against the strong oxidation environments. N,N‐dimethylacetamide (DMA) is a recognized solvent known for its robust resistance to the highly reactive reduced oxygen species, yet its application in Li−O2 batteries has been constrained due to its poor compatibility with the Li metal anode. In this study, a rationally selected hydrofluoroether diluent, methyl nonafluorobutyl ether (M3), has been introduced into the DMA‐based electrolyte to construct a localized high concentration electrolyte. The stable −CH3 and C−F bonds within the M3 structure could not only augment the fundamental properties of the electrolyte but also fortify its resilience against attacks from O2− and 1O2. Additionally, the strong electron‐withdrawing groups (−F) presented in the M3 diluent could facilitate coordination with the electron‐donating groups (−CH3) in the DMA solvent. This intermolecular interaction promotes more alignments of Li+‐anions with a small amount of M3 addition, leading to the construction of an anion‐derived inorganic‐rich SEI that enhances the stability of the Li anode. As a result, the Li−O2 batteries with the DMA/M3 electrolyte exhibit superior cycling performance at both 30 °C (359th) and −10 °C (120th).
Toggling the Oxygen Affinity between Anthracenes and Naphthalenes
Authors: Fudickar Werner , Linker Torsten 
Published: July 2024

AbstractWe present the design of an anthracenyl–naphthyl (ANT‐NAPH) dyad and its application as a luminescent 4‐stage photo switch. Both segments can individually react with singlet oxygen to switch off an optical response. In their initial form the larger ANT component reacts significantly faster and thus an ANTO2‐NAPH stage is turned on, observed by optical response of the remaining NAPH. To reduce its reactivity, ANT is substituted with two pyridine rings. This concept is first investigated and quantified on ANT and NAPH as separated molecules. Upon protonation the reaction of ANT becomes significantly slower. For the three possible pyridyl isomers this effect increases along the order meta<para<ortho. With the pyridyl nitrogen in ortho position the reaction completely toggles from ANT to NAPH. Application of this concept on the dyad allows to turn on the ANT‐NAPHO2 stage with optical response of the remaining ANT. The sequence of protonation‐oxygenation‐neutralization is thereby the only possible way to isolate the unfavored form ANT‐NAPHO2. In the dyad ANT and NAPH are directly attached and their coupling constitutes a non‐oxygenated third stage, where the NAPH luminescence is quenched and ANT luminescence is enhanced. Reaction of both NAPH and ANT to ANTO2‐NAPHO2 constitutes the fourth dark stage.
Effect of polyol bonding agent on the mechanical properties of hydroxyl‐terminated block copolyether based composite propellant with low aluminum content
Authors: Yang Wu , Liu Wenhao , Zheng Mengze , Zhu Cong , Li Tianqi , Luo Yunjun 
Published: July 2024

AbstractA polyol bonding agent (BA) was utilized to enhance the mechanical properties of propellant with low aluminum content. Through scanning electron microscope (SEM) and X‐ray photoelectron spectroscopy (XPS) analysis, it was discovered that BA can physically bond to the surfaces of ammonium perchlorate (AP) and hexogen (RDX). The results of mechanical testing showed that the use of BA can significantly improve the mechanical properties of propellants. Specifically, as the amount of BA increases, the maximum tensile strength (σm) of the propellant also increases, the fracture elongation (εb) initially increases and then decreases, the “dewetting ratio” continuously decreases, and the creep resistance of the propellant also increases. At a BA content of 0.2%, the σm of the propellant reaches 0.6 MPa, the εb exceeds 50%, and the “dewetting ratio” is less than 1.1.
Variant calling in polyploids for population and quantitative genetics
Authors: Phillips Alyssa R. 
Published: July 2024

AbstractAdvancements in genome assembly and sequencing technology have made whole genome sequence (WGS) data and reference genomes accessible to study polyploid species. Compared to popular reduced‐representation sequencing approaches, the genome‐wide coverage and greater marker density provided by WGS data can greatly improve our understanding of polyploid species and polyploid biology. However, biological features that make polyploid species interesting also pose challenges in read mapping, variant identification, and genotype estimation. Accounting for characteristics in variant calling like allelic dosage uncertainty, homology between subgenomes, and variance in chromosome inheritance mode can reduce errors. Here, I discuss the challenges of variant calling in polyploid WGS data and discuss where potential solutions can be integrated into a standard variant calling pipeline.
Quality of life and patient‐reported toxicities in patients with advanced Merkel cell carcinoma treated with combined nivolumab and ipilimumab with or without stereotactic body radiation therapy
Authors: Hoogland Aasha I. , Brohl Andrew S. , Small Brent J. , Michael Lauren , Wuthrick Evan , Eroglu Zeynep , Blakaj Dukagjin , Verschraegen Claire , Khushalani Nikhil I. , Jim Heather S. L. , Kim Sungjune 
Published: July 2024

AbstractBackgroundMerkel cell carcinoma is a rare skin cancer associated with poor survival. Based on a previous Phase II trial of adults with advanced Merkel cell carcinoma by Kim and colleagues (2022), there is now a strong rationale for combination therapy (i.e., nivolumab and ipilimumab) to become a treatment option for patients with advanced Merkel cell carcinoma. The goal of this paper was to report on the secondary outcome of quality of life (QOL) among patients on this trial.MethodsPatients receiving combined nivolumab and ipilimumab, with or without stereotactic body radiation therapy (SBRT), completed the European Organisation for Research and Treatment of Cancer (EORTC) QLQ‐C30 prior to starting treatment and every 2 weeks thereafter. Changes in QOL during treatment and post‐treatment were evaluated using piecewise random‐effects mixed models. Exploratory analyses compared changes in QOL between study arms. The original trial was registered with ClinicalTrials.gov (NCT03071406).ResultsStudy participants (n = 50) reported no changes in overall QOL (ps > 0.05), but emotional functioning improved during treatment (p = 0.01). Cognitive and social functioning worsened post‐treatment (ps < 0.01). In general, patients treated with combination therapy only (n = 25) reported no change in QOL over time, whereas patients also treated with SBRT (n = 25) consistently demonstrated worsening QOL post‐treatment.ConclusionQOL is generally preserved in patients treated with combination therapy, but the addition of SBRT may worsen QOL. Combined with clinical efficacy data published previously, results support the use of combination therapy with nivolumab and ipilimumab as a treatment option for patients with advanced Merkel cell carcinoma.
Cellular communication network 1 promotes CASP2 mRNA expression but suppresses its protein translation in esophageal adenocarcinoma
Authors: Xu Ruize , Jiang Zhenyu , Meng Xianmei , Xing Lingling , Aladan Wula , Chi Baoxing , Dang Tong , Chai Jianyuan 
Published: July 2024

AbstractInduction of apoptosis in tumor cells is one of the best ways to cure cancer. While most apoptosis requires a chain of caspase activation, CASP2 can do this all by itself. The matricellular protein cellular communication network 1 (CCN1) is known for supporting some cancer growth but suppressing others. Esophageal adenocarcinoma (EAC) belongs to the latter. CCN1 is capable of inducing TRAIL‐mediated apoptosis in EAC cells. This study found that CCN1 upregulated CASP2 transcription but not its translation in EAC cells because, on one hand, CCN1 downregulated p16 and p21, which increased RB1 phosphorylation allowing E2F1 to transcribe more CASP2 mRNA, on the other hand, CCN1 also upregulated HuR, which is bound to CASP2 mRNA species and blocked its protein translation. As a result, CASP2 contributed nothing to CCN1‐induced EAC cell apoptosis. On the contrary, CCN1 promoted CASP3, not only in its transcription but also in its translation and activation, which established the basis for CCN1‐induced EAC cell apoptosis.
NOx Emission Trend Prediction for the Waste Incineration Process Based on Partial Least Squares with the Time Series Reconstruction and Exponential Weighting
Authors: Li Zhenghui , Yao Shunchun , Chen Da , Li Longqian , Lu Zhimin , Yu Zhuliang 
Published: July 2024

AbstractAccurate prediction of nitrogen oxide (NOx) emission is crucial for effectively controlling pollution in municipal solid waste incineration processes. However, it is challenging to construct a NOx emission prediction model with high prediction accuracy and easy engineering application. To address this, this paper proposes a robust and easily applicable NOx emission trend prediction model oriented to engineering applications, utilizing the partial least squares (PLS) method with the time series reconstruction and exponential weighting (TS‐EW‐PLS). The model is verified using operational data from an actual waste incineration process, and comparative analysis with the PLS model showed that the TS‐EW‐PLS model achieved a remarkable improvement of 27–38 % in prediction performance.
Design of an Electrochemical Device for the Detection of Alkaline Phosphatase Inhibitors in Seawater
Authors: Sáenz‐Espinar María J. , Hafed‐Khatiri Salma , Salinas‐Torres David , Montilla Francisco , Huerta Francisco 
Published: July 2024

AbstractThe present contribution describes an electrochemical system for the detection of alkaline phosphatase (ALP) enzyme inhibitors in seawater medium. Fluorescence spectroscopy and thermal unfolding results suggest that the state of free ALP is affected in this medium, yet the protein remains active. The enzyme activity can be evaluated using hydroquinone diphosphate as the substrate, with hydroquinone as the electrochemically monitored product. It has been demonstrated that encapsulation in conventional and organic modified silica matrices maintains ALP integrity, although diffusion across the formed monoliths hinders the electrochemical response. ALP@Phenyl‐modified silica exhibits the best performance due to higher affinity between substrate molecules and aromatic moieties and, probably, to larger pore size. This electrochemical system can detect and quantify calyculin A in seawater at sub‐nanomolar concentrations and it can also be employed for the development of electrochemical biosensors tailored for the marine environment.
Novelty and Similarity: Detection Using Data‐Driven Soft Independent Modeling of Class Analogy
Authors: Rodionova O. Y. , Kurysheva N. I. , Sharova G. A. , Pomerantsev A. L. 
Published: July 2024

ABSTRACTNovelty and similarity are complex concepts that have numerous applications in various fields, including biology and medicine. Novelty detection is a technique used to determine whether a dataset is different from another dataset considered as a standard. Similarity detection is a technique used to determine whether two datasets belong to the same population. Novelty and similarity are closely related concepts; however, they are not complementary. Novelty is a much more popular one, and there are many publications about it. Similarity is, in fact, a new concept that has not yet been explored in depth. Classical statistics offers a large number of tools suitable for detection of similarity, mostly in the univariate case. At the same time, this topic has been insufficiently studied in the field of machine learning. This paper suggests several principles which are important for this research and also present a method for the detection of both novelty and similarity. The method uses a one‐class classifier, known as Data‐Driven Soft Independent Modeling of Class Analogy (DD‐SIMCA). Three examples illustrate our approach. The first one uses simulated data and demonstrates the performance of DD‐SIMCA for the detection of novelty. The second example uses a real‐world data and studies similarity of two groups of patients who participate in the evaluation of the effectiveness of the treatment of primary angle‐closure glaucoma. The third example comes from medical diagnostics. This is a real‐world publicly available data used for comparison of various classification algorithms.
Redox‐Triggered Reversible Switching between Dynamic and Quasi‐static α‐Helical Peptides
Authors: Ousaka Naoki , MacLachlan Mark J. , Akine Shigehisa 
Published: July 2024

AbstractWe report the reversible transformation between a singly stapled dynamic α‐helical peptide and a doubly stapled quasi‐static one through redox‐triggered dithiol/disulfide conversions of a stapling moiety. This process allows the rate of interconversion between the right‐handed (P) and left‐handed (M) α‐helices to be altered by a factor of approximately 103 before and after the transformation. An as‐obtained doubly stapled α‐helical peptide, which is composed of an achiral peptide having an l‐valine carboxylic acid residue at the C‐terminus, a disulfide‐based reversible staple, and a biphenyl‐based fixed staple, adopts an (M)‐rich form as a kinetically trapped state. The (M)‐rich helix was subsequently transformed into the thermodynamically stable (P)‐rich form in 1,1,2,2‐tetrachloroethane with the half‐life time (t1/2) of approximately 44 days at 25 °C. Reduction of the doubly stapled peptide with tri‐n‐butylphosphine in tetrahydrofuran/water (10/1, v/v) produced the corresponding singly stapled dynamic α‐helical peptide bearing two thiol groups at the side chains, which underwent solvent‐induced reversible helicity inversion. The resulting dithiol of the singly stapled peptide could be reoxidized to form the original doubly stapled form using 4,4’‐dithiodipyridine. Furthermore, the P/M interconversion of a doubly stapled peptide with two flexible hydrocarbon‐based staples is considerably more rapid than that with more rigid staples.
Co‐Catalyzed Dehydrogenation Claisen Condensation of Secondary Alcohols with Esters†
Authors: Gao Shuo , Hao Wentao , Ji Yuqi , Li Xiulin , Zhang Chunyan , Zhang Guoying 
Published: July 2024

Comprehensive SummaryCatalytic dehydrogenation, with its exceptional atom economy and chemoselectivity, offers a highly desirable yet challenging approach for converting multiple environmentally friendly alcohols into crucial molecules. Furthermore, the utilization of catalysts based on abundant elements found on Earth for alcohol dehydrogenation to produce acryl ketone holds significant promise as a versatile strategy in synthesizing key building blocks for numerous pharmaceutical applications. The present study describes a practical Co‐catalyzed cascade dehydrogenative Claisen condensation of secondary alcohols with esters, facilitating the synthesis of a wide range of 3‐hydroxy‐prop‐2‐en‐1‐ones. We introduce a catalytic system based on novel and scalable indazole NNP‐ligands coordinated to cobalt for efficient dehydrogenations of secondary alcohols, and propose a plausible reaction mechanism supported by control experiments and labeling studies. Notably, it allows for the streamlined synthesis of multiple pharmaceuticals in one‐pot.
Functionalization of Boranes through Thiol/Oxygen Catalysis†
Authors: Tao Hongyi , Lyu Hairong 
Published: July 2024

Comprehensive SummaryA greener and more convenient alternative to traditional methods for the generation of thiyl radical as hydrogen atom transfer (HAT) catalyst is developed, using molecular oxygen to oxidize thiol without the need for chemical initiators or light irradiation. The thiol/oxygen catalysis enables selective and efficient difunctionalization of borane.
In‐situ Post‐Synthetic Treatment of CsPbBr3 Perovskite Nanocrystals in Nanoporous Silica Microspheres
Authors: Tatarinov Danila A. , Xie Jinfeng , Qian Qingyi , Wang Qingqing , Maslova Nadezhda A. , Borodina Lyubov N. , Litvin Aleksandr P. , Huang He 
Published: July 2024

Comprehensive SummaryInorganic lead halide perovskite (LHP) nanostructures, represented by formula CsPbX3 (X = Cl, Br, I), have garnered considerable interest for their exceptional optical properties and diverse applications. Despite their potential, challenges such as environmental degradation persist. In‐situ synthesis within protective materials pores is a promising way to address this issue. However, confining perovskite nanostructures into porous matrices during the synthesis can limit their photoluminescence quantum yield (PL QY) and tunability of optical properties. Various post‐treatment approaches exist to improve the properties of LHP and achieve their desired functionalities, but these strategies have not been explored for LHP confined in mesoporous matrices. Here, we demonstrate the efficacy of in‐situ post‐synthetic treatments to improve the optical properties of CsPbBr3 nanocrystals grown in nanoporous silica microspheres. Surface passivation with Br– ion‐containing precursors boosts PL QY, while anion‐assisted cation doping with Mn2+ ions introduces a new PL band. The adjustment of precursor amount and doping duration enables precise control over the optical properties of LHP, while additional coating with a SiO2 shell enhances their stability in polar solvents, expanding the potential applications of these composites.
Bringing HPE Slingshot 11 support to Open MPI
Authors: Shehata Amir , Naughton Thomas , Bernholdt David E. , Pritchard Howard 
Published: July 2024

SummaryThe Cray HPE Slingshot 11 network is used on the new exascale systems arriving at the U.S. Department of Energy (DoE) laboratories (e.g., Frontier, Aurora, Perlmutter). As such, the support of this network is an important capability to meet the needs of exascale applications. This article highlights recent work to develop supporting infrastructure to enable Open MPI to efficiently support these new platforms. A key component of this effort involves development of a new Open Fabrics Interface (OFI) provider, LinkX. We discuss the design and development of enhancements that take advantage of the new Slingshot 11 network and AMD GPUs. We include performance data from tests on the Frontier supercomputer using synthetic communication benchmarks, and the vendor provided MPI as a baseline for comparison. The tests demonstrate full functionality of Open MPI on the system and initial results show favorable performance when compared to the highly tuned vendor implementation.
Synthesis and Photophysical Properties of Small Helical Carbon Nanohoops Combined with Computational Studies on Racemization Pathway
Authors: Chu Zhuping , Liu Hengxin , Wu Tianlu , Wang Chen , Wei Wen‐Mei , Zheng Ren‐Hui , Lu Dapeng , Liu Rui 
Published: July 2024

AbstractWe herein report the facile synthesis of two helical carbon nanorings with small ring sizes, cyclo[6]paraphenylene‐1,5‐naphthylene ([6]CPPNap1,5), and cyclo[6]paraphenylene‐1,5‐anthrylene ([6]CPPAn1,5). The structures were determined by NMR and HR‐MS. X‐ray single‐crystal data of [6]CPPNap1,5 was also achieved. The strain energy and racemization processes were investigated by DFT calculations. The reduced ring sizes result in increased ring strain and elevated energy barriers. The photophysical properties were studied by UV‐Vis absorption, fluorescence emission, and time‐resolved fluorescence decay.