bluuebunny/crossref_metadata_2025_split huggingface dataset:
Exploring the diverse clinical and variant spectrum of CEP78‐associated syndrome: Novel pathogenic variants identified in a case series
Authors: Zhai Yi , Ballios Brian G. 
Published: May 2024

AbstractDual sensory impairment, commonly referred to as combined hearing and vision loss, can stem from a diverse spectrum of conditions, each presenting with its unique set of clinical characteristics. Our understanding of dual sensory impairment has expanded significantly in the past decade, broadening the scope of genetic differential diagnoses, including genes such as CEP250, ARSG, TUBB4B, CEP78, and ABHD12. A case series including three patients from two families with genetically diagnosed CEP78‐associated cone–rod dystrophy was identified. We collected and reviewed their clinical records, imaging data, and genetic testing results. In addition, a comprehensive literature review was conducted on the phenotype and the genetic testing modality employed in all published CEP78 cases through a PubMed search using the keyword “CEP78.” A retinal dystrophy panel detected a novel homozygous CEP78 pathogenic variant (c.1447C>T, p.Arg483*) in siblings—Cases 1 and 2—from Family 1. Both teenagers have a clinical diagnosis of cone–rod dystrophy with presumed normal hearing. Case 3 from Family 2, diagnosed with cone–rod dystrophy and early‐onset hearing loss, was found to carry a CEP78 pathogenic variant (c.1206‐2A>C) and a likely pathogenic variant (c.856_857del, p.Leu286Glyfs*12) also through panel‐based genetic testing. Intriguingly, neither of these variants was reported in an affected sibling's clinical whole‐exome sequencing (WES) report when performed in 2015. A review of CEP78‐related literature unveiled that the initial report linking CEP78 to cone–rod dystrophy and hearing loss was published in September 2016. Any pathogenic variant found in CEP78 before 2016 would have been categorized as a “clearly disruptive variant in a gene of uncertain significance (GUS)” and might not have been reported in the WES report. It is important to acknowledge that our understanding of genotype–phenotype associations is undergoing rapid expansion. It is also crucial to recognize that repeat genetic testing may represent a fundamentally different approach, given the technological advancements not only in the coverage of the sequencing but also in the more comprehensive understanding of genotype–phenotype associations. This case series also enriches the existing CEP78 literature by providing phenotypic details of the youngest case of CEP78‐associated retinopathy reported in the literature (Case 2), which expands our perspective on the natural history of disease in this disorder.
Clusters of cognitive performance predict long‐term cognitive impairment in elderly patients with subjective memory complaints and healthy controls
Authors: Jiménez‐Huete Adolfo , Villino‐Rodríguez Rafael , Ríos‐Rivera Mirla M. , Rognoni Teresa , Montoya‐Murillo Genoveva , Arrondo Carlota , Zapata Carolina , Rodríguez‐Oroz María Cruz , Riverol Mario ,   for the Alzheimer's Disease Neuroimaging Initiative
Published: May 2024

AbstractINTRODUCTIONPatients with subjective memory complaints (SMC) may include subgroups with different neuropsychological profiles and risks of cognitive impairment.METHODSCluster analysis was performed on two datasets (n: 630 and 734) comprising demographic and neuropsychological data from SMC and healthy controls (HC). Survival analyses were conducted on clusters. Bayesian model averaging assessed the predictive utility of clusters and other biomarkers.RESULTSTwo clusters with higher and lower than average cognitive performance were detected in SMC and HC. Assignment to the lower performance cluster increased the risk of cognitive impairment in both datasets (hazard ratios: 1.78 and 2.96; Plog‐rank: 0.04 and <0.001) and was associated with lower hippocampal volumes and higher tau/amyloid beta 42 ratios in cerebrospinal fluid. The effect of SMC was small and confounded by mood.DISCUSSIONThis study provides evidence of the presence of cognitive clusters that hold biological significance and predictive value for cognitive decline in SMC and HC.Highlights
Patients with subjective memory complaints include two cognitive clusters.
Assignment to the lower performance cluster increases risk of cognitive impairment.
This cluster shows a pattern of biomarkers consistent with incipient Alzheimer's disease pathology.
The same cognitive cluster structure is found in healthy controls.
The effect of memory complaints on risk of cognitive decline is small and confounded.
Tight Bounds from Multiple‐Observable Entropic Uncertainty Relations
Authors: Riccardi Alberto , Chesi Giovanni , Macchiavello Chiara , Maccone Lorenzo 
Published: May 2024

AbstractThe additivity properties for both bipartite and multipartite systems are investigated by using entropic uncertainty relations (EUR) defined in terms of the joint Shannon entropy of probabilities of local measurement outcomes. In particular, state‐independent and state‐dependent entropic inequalities are introduced. Interestingly, the violation of these inequalities is strictly connected with the presence of quantum correlations. It is shown that the additivity of EUR holds only for EUR that involve two observables, while this is not the case for inequalities that consider more than two observables or the addition of the von Neumann entropy of a subsystem. They are applied to bipartite systems and to several classes of states of a three‐qubit system.
Unlocking Single Particle Anisotropy in Real‐Time for Photoelectrochemistry Processes at the Nanoscale
Authors: Lu Si‐Min , Wang Hao‐Wei , Chen Mengjie , Xie Bao‐Kang , Long Yi‐Tao 
Published: May 2024

AbstractThe key to rationally and rapidly designing high‐performance materials is the monitoring and comprehension of dynamic processes within individual particles in real‐time, particularly to gain insight into the anisotropy of nanoparticles. The intrinsic property of nanoparticles typically varies from one crystal facet to the next under realistic working conditions. Here, we introduce the operando collision electrochemistry to resolve the single silver nanoprisms (Ag NPs) anisotropy in photoelectrochemistry. We directly identify the effect of anisotropy on the plasmonic‐assisted electrochemistry at the single NP/electrolyte interface. The statistical collision frequency shows that heterogeneous diffusion coefficients among crystal facets facilitate Ag NPs to undergo direction‐dependent mass transfer toward the gold ultramicroelectrode. Subsequently, the current amplitudes of transient events indicate that the anisotropy enables variations in dynamic interfacial electron transfer behaviors during photothermal processes. The results presented here demonstrate that the measurement precision of collision electrochemistry can be extended to the sub‐nanoparticle level, highlighting the potential for high‐throughput material screening with comprehensive kinetics information at the nanoscale.
Dual‐Locked Fluorescent Probes Activated by Aminopeptidase N and the Tumor Redox Environment for High‐Precision Imaging of Tumor Boundaries
Authors: Shen Yang , Li Wei , Zhou Zhixuan , Xu Junchao , Li Yuhang , Li Haiyan , Zheng Xudong , Liu Sulai , Zhang Xiao‐Bing , Yuan Lin 
Published: May 2024

AbstractClear delineation of tumor margins is essential for accurate resection and decreased recurrence rate in the clinic. Fluorescence imaging is emerging as a promising alternative to traditional visual inspection by surgeons for intraoperative imaging. However, traditional probes lack accuracy in tumor diagnosis, making it difficult to depict tumor boundaries accurately. Herein, we proposed an offensive and defensive integration (ODI) strategy based on the “attack systems (invasive peptidase) and defense systems (reductive microenvironment)” of multi‐dimensional tumor characteristics to design activatable fluorescent probes for imaging tumor boundaries precisely. Screened out from a series of ODI strategy‐based probes, ANQ performed better than traditional probes based on tumor unilateral correlation by distinguishing between tumor cells and normal cells and minimizing false‐positive signals from living metabolic organs. To further improve the signal‐to‐background ratio in vivo, derivatized FANQ, was prepared and successfully applied to distinguish orthotopic hepatocellular carcinoma tissues from adjacent tissues in mice models and clinical samples. This work highlights an innovative strategy to develop activatable probes for rapid diagnosis of tumors and high‐precision imaging of tumor boundaries, providing more efficient tools for future clinical applications in intraoperative assisted resection.
Integrated Design for Discrete Sulfur@Polymer Nanoreactor with Tandem Connection as Lithium–Sulfur Battery Cathodes
Authors: Wang Bin , Wang Yu , Lan Yudong , Lu Guiling , Liu Ling , Tang Tao , Li Ming , Cheng Yong , Xiao Jianrong , Li Xinyu 
Published: May 2024

AbstractApart from electrode material modification, architecture design and optimization are important approaches for improving lithium–sulfur battery performance. Herein, an integrated structure with tandem connection is constructed by confining nanosulfur (NS) in conductive poly(3,4‐ethylenedioxythiophene) (PEDOT) reaction chambers, forming an interface of discrete independent nanoreactor units bonded onto carbon nanotubes (noted as CNT/NS@PEDOT). The unique spatial confinement and concentration gradients of sulfur@PEDOT nanoreactors (SP‐NRs) can promote reaction kinetics while facilitating rapid polysulfide transformation and minimizing dissolution and diffusion losses. Meanwhile, overall ultrahigh energy input and output are achieved through tandem connection with carbon nanotubes, isolation with PEDOT coating, and synergistic multiplicative effects among SP‐NRs. As a result, it delivers a high initial discharge capacity of 1246 mAh g−1 at 0.1 C and 918 mAh g−1 at 1 C, the low capacity decay rate per lap of 0.011 % is achieved at a current density of 1 C after 1000 cycles. This research emphasizes the innovative structural design to provide a fresh trajectory for the further advancement of high‐performance energy storage devices.
Reactivity and Steric Parameters from 2D to 3D Bulky Pyridines: Increasing Steric Demand at Nitrogen with Chiral Azatriptycenes
Authors: Saida Ali Ben , Mahaut Damien , Tumanov Nikolay , Wouters Johan , Champagne Benoît , Vanthuyne Nicolas , Robiette Raphaël , Berionni Guillaume 
Published: May 2024

AbstractSterically hindered pyridines embedded in a three‐dimensional triptycene framework have been synthesized, and their resolution by chiral HPLC enabled access to unprecedented enantiopure pyridines exceeding the known steric limits. The design principles for new axially chiral pyridine derivatives are then described. To rationalize their associations with Lewis acids and transition metals, a comprehensive determination of the steric and electronic parameters for this new class of pyridines was performed. This led to the general parameterization of the steric parameters (percent buried volume %VBur, Tolman cone angle θ, and He8_steric descriptor) for a large set of two‐ and three‐dimensional pyridine derivatives. These parameters are shown to describe quantitatively their interactions with carbon‐ and boron‐centered Lewis acids and were used to predict the ΔG° of association with the prototypical B(C6F5)3 Lewis acid widely used in frustrated Lewis pair catalysis. This first parameterization of pyridine sterics is a fundamental basis for the future development of predictive reactivity models and for guiding new applications of bulky and chiral pyridines in organocatalysis, frustrated Lewis pairs, and transition‐metal catalysis.
Solid‐Phase‐Supported Chemoenzymatic Synthesis and Analysis of Chondroitin Sulfate Proteoglycan Glycopeptides
Authors: Lin Po‐han , Xu Yongmei , Bali Semiha Kevser , Kim Jandi , Gimeno Ana , Roberts Elijah T. , James Deepak , Almeida Nuno M. S. , Loganathan Narasimhan , Fan Fei , Wilson Angela K. , Jonathan Amster I. , Moremen Kelley W. , Liu Jian , Jiménez‐Barbero Jesús , Huang Xuefei 
Published: May 2024

AbstractProteoglycans (PGs), consisting of glycosaminoglycans (GAGs) linked with the core protein through a tetrasaccharide linkage region, play roles in many important biological events. The chemical synthesis of PG glycopeptides is extremely challenging. In this work, the enzymes required for synthesis of chondroitin sulfate (CS) PG (CSPG) have been expressed and the suitable sequence of enzymatic reactions has been established. To expedite CSPG synthesis, the peptide acceptor was immobilized on solid phase and the glycan units were directly installed enzymatically onto the peptide. Subsequent enzymatic chain elongation and sulfation led to the successful synthesis of CSPG glycopeptides. The CS dodecasaccharide glycopeptide was the longest homogeneous CS glycopeptide synthesized to date. The enzymatic synthesis was much more efficient than the chemical synthesis of the corresponding CS glycopeptides, which could reduce the total number of synthetic steps by 80 %. The structures of the CS glycopeptides were confirmed by mass spectrometry analysis and NMR studies. In addition, the interactions between the CS glycopeptides and cathepsin G were studied. The sulfation of glycan chain was found to be important for binding with cathepsin G. This efficient chemoenzymatic strategy opens new avenues to investigate the structures and functions of PGs.
Trigonal Planar [PN3]4− Anion in the Nitridophosphate Oxide Ba3[PN3]O
Authors: Pritzl Reinhard M. , Witthaut Kristian , Dialer Marwin , Buda Amalina T. , Milman Victor , Bayarjargal Lkhamsuren , Winkler Björn , Schnick Wolfgang 
Published: May 2024

AbstractNitridophosphates, with their primary structural motif of isolated or condensed PN4 tetrahedra, meet many requirements for high performance materials. Their properties are associated with their structural diversity, which is mainly limited by this specific building block. Herein, we present the alkaline earth metal nitridophosphate oxide Ba3[PN3]O featuring a trigonal planar [PN3]4− anion. Ba3[PN3]O was obtained using a hot isostatic press by medium‐pressure high‐temperature synthesis (MP/HT) at 200 MPa and 880 °C. The crystal structure was solved and refined from single‐crystal X‐ray diffraction data in space group R
c (no. 167) and confirmed by SEM‐EDX, magic angle spinning (MAS) NMR, vibrational spectroscopy (Raman, IR) and low‐cost crystallographic calculations (LCC). MP/HT synthesis reveals great potential by extending the structural chemistry of P to include trigonal planar [PN3]4− motifs.
Ultra‐High Proportion of Grain Boundaries in Zinc Metal Anode Spontaneously Inhibiting Dendrites Growth
Authors: Lian Sitian , Cai Zhijun , Yan Mengyu , Sun Congli , Chai Nianyao , Zhang Bomian , Yu Kesong , Xu Ming , Zhu Jiexin , Pan Xuelei , Dai Yuhang , Huang Jiazhao , Mai Bo , Qin Ling , Shi Wenchao , Xin Qiqi , Chen Xiangyu , Fu Kai , An Qinyou , Yu Qiang , Zhou Liang , Luo Wen , Zhao Kangning , Wang Xuewen , Mai Liqiang 
Published: May 2024

AbstractAqueous Zn‐ion batteries are an attractive electrochemical energy storage solution for their budget and safe properties. However, dendrites and uncontrolled side reactions in anodes detract the cycle life and energy density of the batteries. Grain boundaries in metals are generally considered as the source of the above problems but we present a diverse result. This study introduces an ultra‐high proportion of grain boundaries on zinc electrodes through femtosecond laser bombardment to enhance stability of zinc metal/electrolyte interface. The ultra‐high proportion of grain boundaries promotes the homogenization of zinc growth potential, to achieve uniform nucleation and growth, thereby suppressing dendrite formation. Additionally, the abundant active sites mitigate the side reactions during the electrochemical process. Consequently, the 15 μm Fs−Zn||MnO2 pouch cell achieves an energy density of 249.4 Wh kg−1 and operates for over 60 cycles at a depth‐of‐discharge of 23 %. The recognition of the favorable influence exerted by UP‐GBs paves a new way for other metal batteries.
Time‐Resolved Mechanistic Depiction of Photoinduced CO2 Reduction Catalysis on a Urea‐Modified Iron Porphyrin
Authors: Cruz Neto Daniel H. , Pugliese Eva , Gotico Philipp , Quaranta Annamaria , Leibl Winfried , Steenkeste Karine , Peláez Daniel , Pino Thomas , Halime Zakaria , Ha‐Thi Minh‐Huong 
Published: May 2024

AbstractThe development of functional artificial photosynthetic devices relies on the understanding of mechanistic aspects involved in specialized photocatalysts. Modified iron porphyrins have long been explored as efficient catalysts for the light‐induced reduction of carbon dioxide (CO2) towards solar fuels. In spite of the advancements in homogeneous catalysis, the development of the next generation of catalysts requires a complete understanding of the fundamental photoinduced processes taking place prior to and after activation of the substrate by the catalyst. In this work, we employ a state‐of‐the‐art nanosecond optical transient absorption spectroscopic setup with a double excitation capability to induce charge accumulation and trigger the reduction of CO2 to carbon monoxide (CO). Our biomimetic system is composed of a urea‐modified iron(III) tetraphenylporphyrin (UrFeIII) catalyst, the prototypical [Ru(bpy)3]2+ (bpy=2,2’‐bipyridine) used as a photosensitizer, and sodium ascorbate as an electron donor. Under inert atmosphere, we show that two electrons can be successively accumulated on the catalyst as the fates of the photogenerated UrFeII and UrFeI reduced species are tracked. In the presence of CO2, the catalytic cycle is kick‐started providing further evidence on CO2 activation by the UrFe catalyst in its formal FeI oxidation state.
Utilizing “Latent” Carbon: Repositioning Hydrogen‐Bonded Synthons and Assemblies via Halogen Bonding to π‐Systems
Authors: Vainauskas Jogirdas , Wahrhaftig‐Lewis Alexander , Friščić Tomislav 
Published: May 2024

AbstractMolecules bearing carboxylic acid, amide, and hydroxyl groups are ubiquitous in crystal engineering, where robust hydrogen‐bonded synthons centred on these functionalities enable reliable crystal structure design. We now show that halogen bonding to the carbon π‐system of such molecules, traditionally ignored in crystal engineering, permits the recognition and directional assembly of the resulting hydrogen‐bonded structural subunits, leaving the archetypal hydrogen‐bonded ring, ladder, and chain homosynthons intact, but repositioned in space. When applied to heteromolecular synthons, this enables rearranging more complex hydrogen‐bonded motifs and the evolution of binary cocrystals into ternary ones through “latent” carbon‐based recognition sites, demonstrating a rational approach to build higher‐order solid‐state supramolecular assemblies.
Facile way of preparing PMMA@TiO2@SiO2 (P@T@S) composite microspheres with high haze and light transmittance for diffusion film
Authors: He Liangyong , Yang Yuqing , Yang Bin , Hu Weiqiang , Zheng Zhengzhi , Lu Tianyu , He Haijia , Qian Jiasheng , Chen Yaoyang , Zhang Weiguo , Ke Yuchao 
Published: May 2024

AbstractIn recent years, optical diffusion film materials with high transmittance and high haze have been widely reported, while there is relatively rare research on their functionalization and practical application especially in real scenario. In this work, optical diffusion films using polymethyl methacrylate (PMMA)@TiO2@SiO2 (P@T@S) composite microspheres were fabricated, which exhibited sufficiently high light transmittance and haze. The binding mode of PMMA microspheres and nanoparticles suggested that PMMA microspheres with a positive surface potential combined with nanoparticles with a negative surface potential through electrostatic attraction to achieve mutual binding. The prepared P@T@S composite microspheres showed better heat and swelling resistance than those of PMMA microspheres. The P@T@S diffusion film, whose excellent light diffusion effect was clearly demonstrated, exhibited the best optical performance among all optical diffusion films prepared. After passing through the P@T@S diffusion film, the laser light was not only uniform but also bright. The findings from this work can provide some insight into further research on optical diffusion films applied in optoelectronic device areas.
Dynamic Adaptive Porous Cu Current Collector for Low N/P Ratio Li Metal Batteries
Authors: Chen Jianyu , Fu Wei , Zhang Shihao , Zhang Fanlai , Zhou Jiayi , Ma Yanwen , Zhao Jin 
Published: May 2024

AbstractPorous copper (Cu) current collectors effectively suppress the growth of lithium (Li) dendrites and enhance the stability of Li metal anodes. However, the current development of porous Cu hosts generally involves a high proportion of Cu, mostly rigid structures, small pore volumes, and low Li utilization. Here, we propose a dynamic adaptive porous Cu (DAP−Cu) host, which is lightweight with a high pore volume, fabricated using a large aspect ratio of Cu nanowires as the building blocks. This DAP−Cu allows for the precise loading of metallic Li, and the symmetric battery assembled with Li/DAP−Cu electrode operates at the high current density of 5 mA cm−2 for 4000 hours while exhibiting a low polarization voltage of ~60 mV. The Li/DAP−Cu anode achieves high‐performance compatibility with LiFePO4 and sulfur cathodes, with optimal N/P ratios of 1.20 : 1 and 4.0 : 1, respectively. Full and pouch cells with low N/P ratios exhibit exceptionally high specific capacities and long‐term cycling life. The establishment of standards for the matching of anodes and cathodes provides a reference for the quantitative preparation of electrode materials and is of significant guidance for enhancing the efficient utilization of metallic Li.
Validation of mobile phone use recall in the multinational MOBI‐kids study
Authors: van Wel Luuk , Huss Anke , Kromhout Hans , Momoli Franco , Krewski Daniel , Langer Chelsea E. , Castaño‐Vinyals Gemma , Kundi Michael , Maule Milena , Miligi Lucia , Sadetzki Siegal , Albert Alex , Alguacil Juan , Aragones Nuria , Badia Francesc , Bruchim Revital , Goedhart Geertje , de Llobet Patricia , Kiyohara Kosuke , Kojimahara Noriko , Lacour Brigitte , Morales‐Suarez‐Varela Maria , Radon Katja , Remen Thomas , Weinmann Tobias , Vrijheid Martine , Cardis Elisabeth , Vermeulen Roel ,   MOBI‐Kids consortium
Published: May 2024

AbstractPotential differential and non‐differential recall error in mobile phone use (MPU) in the multinational MOBI‐Kids case–control study were evaluated. We compared self‐reported MPU with network operator billing record data up to 3 months, 1 year, and 2 years before the interview date from 702 subjects aged between 10 and 24 years in eight countries. Spearman rank correlations, Kappa coefficients and geometric mean ratios (GMRs) were used. No material differences in MPU recall estimates between cases and controls were observed. The Spearman rank correlation coefficients between self‐reported and recorded MPU in the most recent 3 months were 0.57 and 0.59 for call number and for call duration, respectively. The number of calls was on average underestimated by the participants (GMR = 0.69), while the duration of calls was overestimated (GMR = 1.59). Country, years since start of using a mobile phone, age at time of interview, and sex did not appear to influence recall accuracy for either call number or call duration. A trend in recall error was seen with level of self‐reported MPU, with underestimation of use at lower levels and overestimation of use at higher levels for both number and duration of calls. Although both systematic and random errors in self‐reported MPU among participants were observed, there was no evidence of differential recall error between cases and controls. Nonetheless, these sources of exposure measurement error warrant consideration in interpretation of the MOBI‐Kids case–control study results on the association between children's use of mobile phones and potential brain cancer risk.