Heterozygous Inversion on Chromosome 17 involving PAFAH1B1 Detected by Whole Genome Sequencing in a Patient Suffering from Pachygyria.

Lissencephaly (LIS) is a subtype of malformations of cortical development (MCD), characterized by smooth brain surfaces and underdeveloped gyri and sulci. This study investigates the genetic cause of pachygyria in a Chinese male infant diagnosed with the condition, who previously showed no causative variant through trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq). Whole-genome sequencing (WGS) was conducted, revealing a novel heterozygous inversion spanning 1.

Outcomes of allogeneic hematopoietic stem cell transplantation versus intensive chemotherapy in patients with myeloid sarcoma: a nationwide representative multicenter study.

Myeloid sarcoma (MS) is a rare hematological neoplasm with poor prognosis, posing a significant clinical challenge due to the absence of effective and standardized treatments. We conducted a retrospective analysis of 162 MS patients treated at 12 centers to compare outcomes between intensive chemotherapy and allogeneic hematopoietic stem cell transplantation (allo-HSCT). Our analysis revealed that allo-HSCT demonstrated superior overall survival (OS) within the initial 36 months compared to intensive chemotherapy alone (p = 0.

Cornertronics in Two-Dimensional Second-Order Topological Insulators.

Traditional electronic devices rely on the electron's intrinsic degrees of freedom (d.o.f.

Intercalating Architecture for the Design of Charge Density Wave in Metallic MAZ Materials.

We present a novel approach to induce charge density waves (CDWs) in metallic MAZ materials, resembling the behavior observed in transition metal dichalcogenides (TMDCs). This method leverages the intercalating architecture to maintain the same crystal field and Fermi surface topologies. Our investigation reveals that CDW instability in these materials arises from electron-phonon coupling (EPC) between the band and longitudinal acoustic (LA) phonons, mirroring TMDC's behavior.

Fragment Screening to Identify Inhibitors Targeting Ribosome Binding of Shiga Toxin 2.

Shiga toxins are the main virulence factors of Shiga toxin producing (STEC) and . There is no effective therapy to counter the disease caused by these toxins. The A1 subunits of Shiga toxins bind the C-termini of ribosomal P-stalk proteins to depurinate the sarcin/ricin loop.

A fluorescence anisotropy-based competition assay to identify inhibitors against ricin and Shiga toxin ribosome interactions.

Ricin is one of the most toxic substances known and a type B biothreat agent. Shiga toxins (Stxs) produced by E. coli (STEC) and Shigella dysenteriae are foodborne pathogens.

A simple and effective method to enrich endogenous DNA from mammalian faeces.

Utilization of faeces has long been a popular approach for genetic and ecological studies of wildlife. However, the success of molecular marker genotyping and genome resequencing is often unpredictable due to insufficient enrichment of endogenous DNA in the total faecal DNA that is dominated by bacterial DNA. Here, we report a simple and cheap method named PEERS to predominantly lyse animal cells over bacteria by using sodium dodecyl sulphate so as to discharge endogenous DNA into liquid phase before bacterial DNA.

Structure-based design and optimization of a new class of small molecule inhibitors targeting the P-stalk binding pocket of ricin.

Ricin, a category-B agent for bioterrorism, and Shiga toxins (Stxs), which cause food poisoning bind to the ribosomal P-stalk to depurinate the sarcin/ricin loop. No effective therapy exists for ricin or Stx intoxication. Ribosome binding sites of the toxins have not been targeted by small molecules.

Symmetry-selective quasiparticle scattering and electric field tunability of the ZrSiS surface electronic structure.

Three-dimensional Dirac semimetals with square-net non-symmorphic symmetry, such as ternary ZrXY (X = Si, Ge; Y = S, Se, Te) compounds, have attracted significant attention owing to the presence of topological nodal lines, loops, or networks in their bulk. Orbital symmetry plays a profound role in such materials as the different branches of the nodal dispersion can be distinguished by their distinct orbital symmetry eigenvalues. The presence of different eigenvalues suggests that scattering between states of different orbital symmetry may be strongly suppressed.

Elevated triglycerides and low triiodothyronine: Key risk factors for coronary artery calcification in patients with schizophrenia.

Objective: Coronary artery calcification (CAC) is a well-established independent predictor of coronary heart disease, and patients with schizophrenia have significantly higher rates compared to the general population. We performed this study to examine the population-specific risk factors associated with CAC in patients with schizophrenia.

Methods: In this cross-sectional study, patients with schizophrenia who underwent low-dose chest CT scans between January 2020 and December 2021 were analyzed.

[Huazhi Rougan Granules attenuates steatosis in cell model of nonalcoholic fatty liver disease by inducing autophagy].

To investigate the effect of Huazhi Rougan Granules(HZRG) on autophagy in a steatotic hepatocyte model of free fatty acid(FFA)-induced nonalcoholic fatty liver disease(NAFLD) and explore the possible mechanism. FFA solution prepared by mixing palmitic acid(PA) and oleic acid(OA) at the ratio of 1∶2 was used to induce hepatic steatosis in L02 cells after 24 h treatment, and an in vitro NAFLD cell model was established. After termination of incubation, cell counting kit-8(CCK-8) assay was performed to detect the cell viability; Oil red O staining was employed to detect the intracellular lipid accumulation; enzyme-linked immunosorbnent assay(ELISA) was performed to measure the level of triglyceride(TG); to monitor autophagy in L02 cells, transmission electron microscopy(TEM) was used to observe the autophagosomes; LysoBrite Red was used to detect the pH change in lysosome; transfection with mRFP-GFP-LC3 adenovirus was conducted to observe the autophagic flux; Western blot was performed to determine the expression of autophagy marker LC3B-Ⅰ/LC3B-Ⅱ, autophagy substrate p62 and silent information regulator 1(SIRT1)/adenosine 5'-monophosphate(AMP)-activated protein kinase(AMPK) signaling pathway.

In-Plane Anomalous Hall Effect in PT-Symmetric Antiferromagnetic Materials.

The anomalous Hall effect (AHE), a protocol of various low-power dissipation quantum phenomena and a fundamental precursor of intriguing topological phases of matter, is usually observed in ferromagnetic materials with an orthogonal configuration between the electric field, magnetization, and the Hall current. Here, based on the symmetry analysis, we find an unconventional AHE induced by the in-plane magnetic field (IPAHE) via the spin-canting effect in PT-symmetric antiferromagnetic (AFM) systems, featuring a linear dependence of magnetic field and 2π angle periodicity with a comparable magnitude to conventional AHE. We demonstrate the key findings in the known AFM Dirac semimetal CuMnAs and a new kind of AFM heterodimensional VS_{2}-VS superlattice with a nodal-line Fermi surface and, also, briefly discuss the experimental detection.

Left ventricular hypertrophy, carotid atherosclerosis, and cognitive impairment in peritoneal dialysis patients.

Background: Left ventricular hypertrophy (LVH) and carotid atherosclerosis (CAS) have been identified as factors associated with cognitive impairment (CI) but have not been studied in patients undergoing peritoneal dialysis (PD). This study investigated the relationship between LVH and CAS and cognitive function in patients undergoing PD.

Methods: In this single-center cross-sectional study, the clinically stable patients who were over 18 years of age and had undergone PD for at least 3 months were enrolled.

[Mechanism of Huangjing Qianshi Decoction in treatment of prediabetic mice based on transcriptome sequencing].

Based on transcriptome sequencing technology, the mouse model of prediabetes treated with Huangjing Qianshi Decoction was sequenced to explore the possible mechanism of treating prediabetes. First of all, transcriptome sequencing was performed on the normal BKS-DB mouse group, the prediabetic model group, and the Huangjing Qianshi Decoction treatment group(treatment group) to obtain differentially expressed genes in the skeletal muscle samples of mice. The serum biochemical indexes were detected in each group to screen out the core genes of Huangjing Qianshi Decoction in prediabetes.

Mesenchymal and Neural Stem Cell-Derived Exosomes in Treating Alzheimer's Disease.

As the most common form of dementia and a progressive neurodegenerative disorder, Alzheimer's disease (AD) affects over 10% world population with age 65 and older. The disease is neuropathologically associated with progressive loss of neurons and synapses in specific brain regions, deposition of amyloid plaques and neurofibrillary tangles, neuroinflammation, blood-brain barrier (BBB) breakdown, mitochondrial dysfunction, and oxidative stress. Despite the intensive effort, there is still no cure for the disorder.

[Pharmacodynamic mechanism of Tibetan medicine Liurui Capsules on experimental autoimmune uveitis in rats based on network pharmacology and animal experiments].

By integrating network pharmacology and animal experiments, we studied the pharmacodynamic mechanism of the Tibetan medicine Liurui Capsules in the treatment of experimental autoimmune uveitis(EAU). The active ingredients and targets of Liurui Capsules were searched against the Encyclopedia of Traditional Chinese Medicine(ETCM), Bioinformatics Analysis Tool for Molecular Mechanism of Traditional Chinese Medicine(BATMAN-TCM), and relevant literatures. The EAU-related targets were obtained from Gene Expression Omnibus(GEO), GeneCards, Online Mendelian Inheritance in Man(OMIM), and Therapeutic Target Database(TTD).

Encyclopedia of emergent particles in three-dimensional crystals.

The past decade has witnessed a surge of interest in exploring emergent particles in condensed matter systems. Novel particles, emerged as excitations around exotic band degeneracy points, continue to be reported in real materials and artificially engineered systems, but so far, we do not have a complete picture on all possible types of particles that can be achieved. Here, via systematic symmetry analysis and modeling, we accomplish a complete list of all possible particles in time-reversal-invariant systems.

Disorder- and Topology-Enhanced Fully Spin-Polarized Currents in Nodal Chain Spin-Gapless Semimetals.

Recently discovered high-quality nodal chain spin-gapless semimetals MF_{3} (M=Pd, Mn) feature an ultraclean nodal chain in the spin up channel residing right at the Fermi level and displaying a large spin gap leading to a 100% spin polarization of transport properties. Here, we investigate both intrinsic and extrinsic contributions to anomalous and spin transport in this class of materials. The dominant intrinsic origin is found to originate entirely from the gapped nodal chains without the entanglement of any other trivial bands.

Proteomic analysis and identification reveal the anti-inflammatory mechanism of clofazimine on lipopolysaccharide-induced acute lung injury in mice.

Background And Objective: Acute lung injury (ALI)/ acute respiratory distress syndrome (ARDS) was increasingly recognized as one of the most severe acute hyperimmune response of coronavirus disease 2019 (COVID-19). Clofazimine (CFZ) has attracted attention due to its anti-inflammatory property in immune diseases as well as infectious diseases. However, the role and potential molecular mechanism of CFZ in anti-inflammatory responses remain unclear.

Effectiveness and Safety of PD-1 Inhibitor Monotherapy for Elderly Patients with Advanced Non-Small Cell Lung Cancer: A Real-World Exploratory Study.

Background: Immunotherapy represented by PD-1 blockades had become the standard of care for advanced non-small cell lung cancer (NSCLC) gradually. Unfortunately, several PD-1 inhibitor-related studies excluded elderly patients with NSCLC over 75 years of age, resulting in relatively limited evidence regarding the efficacy and safety of PD-1 in elderly patients with NSCLC clinically.

Objective: This study aimed to identify the effectiveness and safety of PD-1 blockade monotherapy among elderly patients with advanced NSCLC.