Genetics of infantile epileptic spasms syndrome in China.

Aim: To construct a genetic landscape of infantile epileptic spasms syndrome (IESS) and explore the pathogenic mechanisms of IESS-associated genes.

Method: We conducted a nationwide, multicentre, retrospective study across six centres in China, enrolling patients with genetically confirmed IESS between January 2015 and January 2024. Additionally, we reviewed the existing literature, summarized the genetic landscape of IESS, and used bioinformatics approaches to investigate its pathophysiological features.

A Refined Bulk P-I-N Structure in All-Polymer Solar Cells To Achieve 20.1% Efficiency and Improved Stability.

All-polymer solar cells (all-PSCs) have shown good potential for achieving balanced power conversion efficiency (PCE) and operational stability. However, precise control of the morphology remains challenging. Here, we constructed a bulk p-i-n structure with a regulated i-region by incorporating a shamrock-shaped nonfullerene acceptor, AQI4.

Genotype and phenotype correlation in epilepsy patients with SMARCA2 variants.

Aim: This study aimed to determine the genotype and phenotype correlations for the SMARCA2 gene in epilepsy patients.

Method: We analysed the genotype-phenotype correlations of 24 patients in our cohort and evaluated 46 epilepsy patients from published studies.

Results: In our cohort, 21 variants were identified in 24 patients.

Green Solvent-Processed Organic Solar Cells Approaching 20.4% Efficiency via Active Layer Pre-Solidification.

Green solvent fabrication of efficient organic solar cells (OSCs) is essential for their industrial scale extension and ecological sustainability, but there is typically an obvious efficiency drop during the transition from halogenated to green solvents due to the severe molecular aggregation. Here, an innovative strategy of active layer pre-solidification by liquid nitrogen freezing process is proposed to accelerate molecular precipitation and crystallization, and therefore suppress the excessive phase separation, as demonstrated by PiFM and GISAXs results. Moreover, pre-solidification process allows more solvents to carry acceptor molecules for an orderly upward migration during rapid volatilization, facilitating an ideal longitudinal gradient arrangement of photovoltaic materials that is favorable for charge transport and extraction.

Advancing Volumetric Medical Image Segmentation via Global-Local Masked Autoencoders.

Masked Autoencoder (MAE) is a self-supervised pre-training technique that holds promise in improving the representation learning of neural networks. However, the current application of MAE directly to volumetric medical images poses two challenges: (i) insufficient global information for clinical context understanding of the holistic data, and (ii) the absence of any assurance of stabilizing the representations learned from randomly masked inputs. To conquer these limitations, we propose the Global-Local Masked AutoEncoders (GL-MAE), a simple yet effective selfsupervised pre-training strategy.

MiM: Mask in Mask Self-Supervised Pre-Training for 3D Medical Image Analysis.

The Vision Transformer (ViT) has demonstrated remarkable performance in Self-Supervised Learning (SSL) for 3D medical image analysis. Masked AutoEncoder (MAE) for feature pre-training can further unleash the potential of ViT on various medical vision tasks. However, due to large spatial sizes with much higher dimensions of 3D medical images, the lack of hierarchical design for MAE may hinder the performance of downstream tasks.

Association Between Triglyceride Glucose Index and Risk of Carotid Plaques in Asia: A Systematic Review and Meta-Analysis.

The triglyceride glucose (TyG) index is used to assess insulin resistance, which is associated with the occurrence and development of cardiovascular diseases, but the risk of carotid plaques is controversial in Asia. We searched PubMed, Embase, Scopus, and Cochrane Library for articles published up to October 15, 2023, to assess the association and dose-response association of the TyG index with the risk of carotid plaques in Asia. The random effects model was used to calculate the effect estimates and 95% confidence intervals (CIs).

Boundary-Guided Contrastive Learning for Semi-Supervised Medical Image Segmentation.

Semi-supervised learning methods, compared to fully supervised learning, offer significant potential to alleviate the burden of manual annotations on clinicians. By leveraging unlabeled data, these methods can aid in the development of medical image segmentation systems for improving efficiency. Boundary segmentation is crucial in medical image analysis.

Nanostructures and multi-scale aggregation of high ion exchange capacity short-side-chain perfluorosulfonic acid dispersion.

Short-side-chain perfluorosulfonic acid (SSC-PFSA) ionomers with high ion-exchange-capacity are promising candidates for high-temperature proton exchange membranes (PEMs) and catalyst layer (CL) binders. The solution-casting method determines the importance of SSC-PFSA dispersion characteristics in shaping the morphology of PEMs and CLs. Therefore, a thorough understanding of the chain behavior of SSC-PFSA in dispersions is essential for fabricating high-quality PEMs and CLs.

Reconstitution of RNA cap methylation reveals different features of SARS-CoV-2 and SARS-CoV methyltransferases.

Cap RNA methylations play important roles in the replication, evasion of host RNA sensor recognition, and pathogenesis. Coronaviruses possess both guanine N7- and 2'-O-ribose methyltransferases (N7-MTase and 2'-O-MTase) encoded by nonstructural protein (nsp) 14 and nsp16/10 complex, respectively. In this study, we reconstituted the two-step RNA methylations of N7-MTase and 2'-O-MTase of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in vitro and demonstrated its common and different features in comparison with that of SARS-CoV.

Association between migraine and epilepsy: a meta-analysis.

Background: Epidemiological studies have demonstrated a comorbid association between migraine and epilepsy. However, despite the long history of this association, the exact nature of the relationship between migraine and epilepsy remains largely unresolved. Therefore, it is crucial to conduct a meta-analysis in order to thoroughly investigate the relationship between migraine and epilepsy.

Synthesis and Characterization of U≡C Triple Bonds in Fullerene Compounds.

Despite decades of efforts, the actinide-carbon triple bond has remained an elusive target, defying synthesis in any isolable compound. Herein, we report the successful synthesis of uranium-carbon triple bonds in carbide-bridged bimetallic [U≡C-Ce] units encapsulated inside the fullerene cages of C and C. The molecular structures of UCCe@C and the nature of the U≡C triple bond were characterized through X-ray crystallography and various spectroscopic analyses, revealing very short uranium-carbon bonds of 1.

PACT inhibits the replication of SARS-CoV-2 through the blockage of GSK-3β-N-nsp3 cascade.

The protein activator of protein kinase R (PKR) (PACT) has been shown to play a crucial role in stimulating the host antiviral response through the activation of PKR, retinoic acid-inducible gene I, and melanoma differentiation-associated protein 5. Whether PACT can inhibit viral replication independent of known mechanisms is still unrevealed. In this study, we show that, like many viruses, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) hijacks GSK-3β to facilitate its replication.

Spike substitution T813S increases Sarbecovirus fusogenicity by enhancing the usage of TMPRSS2.

SARS-CoV Spike (S) protein shares considerable homology with SARS-CoV-2 S, especially in the conserved S2 subunit (S2). S protein mediates coronavirus receptor binding and membrane fusion, and the latter activity can greatly influence coronavirus infection. We observed that SARS-CoV S is less effective in inducing membrane fusion compared with SARS-CoV-2 S.

Incentive strategy of safe and intelligent production in assembled steel plants from the perspective of evolutionary game.

Due to the numerous cross-operations and poor information communication, it is easy to cause production safety accidents in traditional assembled steel plants. The transformation and upgrading of smart production in the assembly steel plants is helpful to improve the efficiency of safety management. In order to effectively reduce the safety risks in the production of assembled steel components, this paper integrates policy incentives and safety supervision, constructs an evolutionary game model between the government and assembled steel producers, and analyzes the strategic evolution rules and stability conditions of stakeholders through the replication dynamics equation.

A charged diatomic triple-bonded U≡N species trapped in C fullerene cages.

Actinide diatomic molecules are ideal models to study elusive actinide multiple bonds, but most of these diatomic molecules have so far only been studied in solid inert gas matrices. Herein, we report a charged U≡N diatomic species captured in fullerene cages and stabilized by the U-fullerene coordination interaction. Two diatomic clusterfullerenes, viz.

Genome-Wide Analysis of the Indispensable Role of Non-structural Proteins in the Replication of SARS-CoV-2.

Understanding the process of replication and transcription of SARS-CoV-2 is essential for antiviral strategy development. The replicase polyprotein is indispensable for viral replication. However, whether all nsps derived from the replicase polyprotein of SARS-CoV-2 are indispensable is not fully understood.

UCN@(6)-C: An Encapsulated Triangular UCN Cluster with Ambiguous U Oxidation State [U(III) versus U(I)].

Understanding the chemical behavior of actinide elements is essential for the effective management and use of actinide materials. In this study, we report an unprecedented η (side-on) coordination of U by a cyanide in a UCN cluster, which was stabilized inside a C fullerene cage. UCN@(6)-C was successfully synthesized and fully characterized by mass spectrometry, single crystal X-ray crystallography, cyclic voltammetry, spectroscopy, and theoretical calculations.

Synthesis and Characterization of Two Isomers of Th@C: Th@(9)-C and Th@(5)-C.

Actinide endohedral fullerenes have demonstrated remarkably different physicochemical properties compared to their lanthanide analogues. In this work, two novel isomers of Th@C were successfully synthesized, isolated, and fully characterized by mass spectrometry, X-ray single crystallography, UV-vis-NIR spectroscopy, Raman spectroscopy, and cyclic voltammetry. The molecular structures of the two isomers were determined unambiguously as Th@(9)-C and Th@(5)-C by single-crystal X-ray diffraction analysis.

Synthesis and characterization of carbene derivatives of Th@ (8)-C and U@ (9)-C: exceptional chemical properties induced by strong actinide-carbon cage interaction.

Chemical functionalization of endohedral metallofullerenes (EMFs) is essential for the application of these novel carbon materials. Actinide EMFs, a new EMF family member, have presented unique molecular and electronic structures but their chemical properties remain unexplored. Here, for the first time, we report the chemical functionalization of actinide EMFs, in which the photochemical reaction of Th@ (8)-C and U@ (9)-C with 2-adamantane-2,3'-[3]-diazirine (AdN, ) was systematically investigated.

UN@ (7)-C: fullerene cage encapsulating an unsymmetrical U(iv)[double bond, length as m-dash]N[double bond, length as m-dash]U(v) cluster.

For the first time, an actinide nitride clusterfullerene, UN@ (7)-C, is synthesized and fully characterized by X-ray single crystallography and multiple spectroscopic methods. UN@ (7)-C is by far the first endohedral fullerene that violates the well-established tri-metallic nitride template for nitride clusterfullerenes. The novel U[double bond, length as m-dash]N[double bond, length as m-dash]U cluster features two U[double bond, length as m-dash]N bonds with uneven bond distances of 2.

Th@(6)-C: a highly symmetric fullerene cage stabilized by a single metal ion.

A novel endohedral metallofullerene (mono-EMF), Th@D5h(6)-C80, has been successfully synthesized and fully characterized by mass spectrometry, single crystal X-ray diffraction, UV-vis-NIR and Raman spectroscopy and cyclic voltammetry. Single crystal XRD analysis unambiguously assigned the fullerene cage as D5h(6)-C80, the first example in which the highly symmetric cage is stabilized by a single metal ion. The combined experimental and theoretical studies further reveal that the D5h(6)-C80 cage, known only for its stabilization by 6-electron transfer, is stabilized by the 4-electron transfer from the encapsulated Th ion for the first time.

A non-isolated pentagon rule C cage stabilized by a stretched ScN cluster.

A novel cluster fullerene, Sc3N@Cs(39 663)-C82, has been synthesized and characterized. Crystallograpic charaterization unambiguously determines the non-IPR cage structure of Cs(39 663)-C82. Structural analyses further reveal that the Sc3N cluster is notably stretched to facilitate the interaction with the non-IPR fullerene cage.

Characterization of a strong covalent Th-Th bond inside an I(7)-C fullerene cage.

The nature of the actinide-actinide bonds is of fundamental importance to understand the electronic structure of the 5f elements. It has attracted considerable theoretical attention, but little is known experimentally as the synthesis of these chemical bonds remains extremely challenging. Herein, we report a strong covalent Th-Th bond formed between two rarely accessible Th ions, stabilized inside a fullerene cage nanocontainer as Th@I(7)-C.