Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataract.

Numerous genetic conditions are represented within the biochemical pathway for de novo cholesterol biosynthesis. Among the emerging disease-gene associations is CYP51A1, encoding a lanosterol demethylase enzyme. Biallelic variants in CYP51A1 have been associated with congenital cataracts and variable liver disease but an appreciation of genotype/phenotype correlation is lacking due to the limited number of patients described.

Exploration and Application of Malignant Cell Heterogeneity Analysis with Single-Cell Transcriptome Sequencing Technology.

Cancer remains a formidable global health burden owing to its persistently high incidence and mortality, highlighting the need to elucidate its underlying biological mechanisms. Such insights are crucial for refining diagnostic precision and therapeutic efficacy. Notably, human tumors represent highly heterogeneous ecosystems, comprising a dynamic interplay between malignant cells and non-malignant components, such as immune infiltrates and stromal elements.

Multi-dimensional data-driven computational drug repurposing strategy for screening novel neuroprotective agents in ischemic stroke.

The complexity of biological systems and misconceptions about neuroprotection have hindered the development of neuroprotective drugs for ischemic stroke. This study aims to identify new neuroprotective agents by integrating ischemic stroke transcriptomics with neuronal protection data using a Multidimensional Data-Driven Computational Drug Repositioning strategy (MDCDR). : Three microarray datasets related to ischemic stroke (GSE16561, GSE58294, and GSE22255) were obtained from the GEO dataset and pre - processed to analyze differentially expressed genes (DEGs).

Ethanol extract of Periploca forrestii Schltr. and chlorogenic acid alleviate ischemic stroke by inhibiting TLR4-mediated neuroinflammation.

Background: Neuroinflammation is a major factor in the pathogenesis of cerebral ischemia-reperfusion injury (CIRI). Periploca forrestii Schltr., commonly known as Heiguteng (HGT) in China, is a traditional anti-inflammatory herb that has been found effective in treating cardiovascular and cerebrovascular diseases.

Artificial Intelligence in Chronic Disease Management for Aging Populations: A Systematic Review of Machine Learning and NLP Applications.

As China's elderly population grows rapidly and the aging society arrives, the number of elderly patients with chronic diseases (mainly including chronic cardiovascular and cerebrovascular diseases, respiratory diseases, etc) continues to increase, significantly impacting individuals, families, and society. Geriatric Chronic Disease Management in China faces multiple challenges, including unequal distribution of medical resources, lack of professional management teams, insufficient health education, improper medication management, inadequate psychological support, insufficient medical insurance coverage, and insufficient family support. The rise of artificial intelligence (AI) technology (eg, machine learning, deep learning, NLP, computer vision) offers possibilities for improving Geriatric Chronic Disease Management, including optimizing the distribution of medical resources, supplementing professional management teams, popularizing health education, optimizing medication management, enhancing psychological support, improving medical insurance efficiency and accuracy, and strengthening family support.

Erratum: Engineered oncolytic virus OH2-FLT3L enhances antitumor immunity via dendritic cell activation.

[This corrects the article DOI: 10.1016/j.omton.

Learning spatio-temporal representation for cooperative 3D object detection and tracking.

Multi-agent collaborative perception, an emerging technology in intelligent driving, has attracted considerable attention in recent years. Despite advancements in previous works, challenges remain due to inevitable localization errors, data sparsity, and bandwidth limitations. To address these challenges, a collaborative detection and tracking method, CoTrack, is proposed to balance perception effectiveness with communication efficiency.

Effect of mini-open rotator cuff repair combined with intraoperative cocktail therapy in the treatment of rotator cuff injury: a prospective comparative study between the cocktail therapy and the control group.

Introduction: To investigate the clinical effect of mini-open rotator cuff repair combined with intraoperative cocktail therapy in the treatment of rotator cuff injury.

Methods: A prospective comparative study of 78 patients with rotator cuff injury who underwent mini-open rotator cuff repair in our hospital from January 2020 to January 2022 and used block randomization to divide patients into 2 groups in this trial: The cocktail group received 150 mg ropivacaine, 40 mg of methylprednisolone succinate, 0.3 mg of epinephrine, and saline solution to a total of 100 mL, whereas the control group received 100mL of saline solution.

Engineered oncolytic virus OH2-FLT3L enhances antitumor immunity via dendritic cell activation.

The combination of oncolytic viruses (OVs) with other immunotherapies, such as immunostimulatory therapies, is a current research hotspot; however, optimizing their therapeutic potential remains to be fully explored. Here, we designed a novel oncolytic herpes simplex virus 2 expressing Fms-like tyrosine kinase 3 ligand (OH2-FLT3L), which induces an antitumor cytotoxic T cell immune response by activating dendritic cells (DCs). We found that OH2-FLT3L specifically infects tumor cells, induces immunogenic cell death (ICD), and releases a large number of tumor-specific antigens, which bound to danger signals and facilitated antigenic cross-presentation by DCs, significantly enhancing T cell activation and function.

The contribution of de novo coding mutations to meningomyelocele.

Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close. Individuals with meningomyelocele display neuromotor disability and frequent hydrocephalus, requiring ventricular shunting. A few genes have been proposed to contribute to disease susceptibility, but beyond that it remains unexplained.

Radiation-induced ferroptosis via liposomal delivery of 7-Dehydrocholesterol.

Background: Ferroptosis is an emerging cell death mechanism characterized by uncontrolled lipid peroxidation. However, selectively inducing ferroptosis in cancer cells remains a challenge.

Methods: We explore an approach that enables ferroptosis induction through external radiation.

A quinolinyl analog of resveratrol improves neuronal damage after ischemic stroke by promoting Parkin-mediated mitophagy.

Ischemic stroke (IS) is a prevalent neurological disorder often resulting in significant disability or mortality. Resveratrol, extracted from Polygonum cuspidatum Sieb. et Zucc.

PubChemLite Plus Collision Cross Section (CCS) Values for Enhanced Interpretation of Nontarget Environmental Data.

Finding relevant chemicals in the vast (known) chemical space is a major challenge for environmental and exposomics studies leveraging nontarget high resolution mass spectrometry (NT-HRMS) methods. Chemical databases now contain hundreds of millions of chemicals, yet many are not relevant. This article details an extensive collaborative, open science effort to provide a dynamic collection of chemicals for environmental, metabolomics, and exposomics research, along with supporting information about their relevance to assist researchers in the interpretation of candidate hits.

Simulated exposures of oritavancin in in vitro pharmacodynamic models select for methicillin-resistant Staphylococcus aureus with reduced susceptibility to oritavancin but minimal cross-resistance or seesaw effect with other antimicrobials.

Background: Dalbavancin exposures select for VAN and daptomycin cross-resistance in Staphylococcus aureus often by walK-related mutations. Oritavancin is another long-acting lipoglycopeptide, but its proclivity to select for cross-resistance is unknown. The objective of this study was to determine if post-distributional pharmacokinetic oritavancin exposures select for meaningful susceptibility changes in S.

The effect of the position of the femoral endobutton on knee function in the posterior cruciate ligament reconstruction: a retrospective study.

Background: To investigate the effect of the position of the femoral endobutton on knee function in the posterior cruciate ligament reconstruction (PCLR).

Methods: A retrospective study was conducted to analyze 96 patients who underwent single-bundle reconstruction of posterior cruciate ligament (PCL) in our hospital from January 2020 to June 2023. The patients were divided into three groups according to the position of the endobutton on the lateral knee radiography.

Effusol ameliorates ischemic stroke by targeting NLRP3 protein to regulate NLRP3 inflammasome-mediated pyroptosis.

Background: The significance of pyroptosis as an inflammatory mode of death in ischemic stroke (IS) has attracted much attention in recent years. Effusol is a dihydrophenanthrene component extracted from Juncus effusus L..

Ethanol extracts of Cinnamomum migao H.W. Li attenuates neuroinflammation in cerebral ischemia-reperfusion injury via regulating TLR4-PI3K-Akt-NF-κB pathways.

Ethnopharmacological Relevance: Cinnamomum migao H.W. Li, commonly known as migao (MG), is used in the Miao region of China for treating cardiovascular and cerebrovascular diseases, attributed to its detoxifying (Jiedu in Chinese), activating blood circulation (Huoxue in Chinese), and promoting Qi circulation (Tongqi in Chinese) properties.

Gnetupendin A protects against ischemic stroke through activating the PI3K/AKT/mTOR-dependent autophagy pathway.

Background: Autophagy has been recently emerged as a prominent factor in the pathogenesis of ischemic stroke (IS) and is increasingly being considered as a potential therapeutic target for IS. Gnetum parvifolium has been identified as a potential therapeutic agent for inflammatory diseases such as rheumatism and traumatic injuries. However, the pharmacological effects of Gnetupindin A (GA), a stilbene compound isolated from Gnetum parvifolium, have not been fully elucidated until now.

Growth of Staphylococcus aureus in the presence of oleic acid shifts the glycolipid fatty acid profile and increases resistance to antimicrobial peptides.

Staphylococcus aureus readily adapts to various environments and quickly develops antibiotic resistance, which has led to an increase in multidrug-resistant infections. Hence, S. aureus presents a significant global health issue and its adaptations to the host environment are crucial for understanding pathogenesis and antibiotic susceptibility.

Flavaglines with anti-neuroinflammatory activity from Aglaia edulis (Roxb.) Wall. and structure revision of related flavaglines.

Eight cyclopenta[b]benzofurans (1, 2, 4, and 5-9) and eight cyclopenta[bc]benzopyrans (3, 10-16), including a revised (4) and three undescribed compounds (1-3), were isolated from the twigs and leaves of Aglaia edulis (Roxb.) Wall. Their structures were determined by a combination of spectral analysis in conjunction with NMR and ECD calculations.

Empirically establishing drug exposure records directly from untargeted metabolomics data.

Despite extensive efforts, extracting information on medication exposure from clinical records remains challenging. To complement this approach, we developed the tandem mass spectrometry (MS/MS) based GNPS Drug Library. This resource integrates MS/MS data for drugs and their metabolites/analogs with controlled vocabularies on exposure sources, pharmacologic classes, therapeutic indications, and mechanisms of action.

Isoamericanin A ameliorates neuronal damage and alleviates vascular cognitive impairments by inhibiting oxidative stress through activation of the Nrf2 pathway.

Oxidative stress is critically involved in the cognitive dysfunction and neuronal progressive degeneration in the vascular cognitive impairment (VCI). The natural lignan molecular isoamericanin A (ISOA) containing multiple hydroxyl groups has great potential for suppressing oxidative stress in VCI. The primary objective of this study was to delve into the pharmacological properties of ISOA against VCI, as well as to elucidate the mechanisms driving this effect from the perspective of antioxidative stress.

Molecular basis of cell membrane adaptation in daptomycin-resistant Enterococcus faecalis.

Daptomycin is a last-resort lipopeptide antibiotic that disrupts cell membrane (CM) and peptidoglycan homeostasis. Enterococcus faecalis has developed a sophisticated mechanism to avoid daptomycin killing by redistributing CM anionic phospholipids away from the septum. The CM changes are orchestrated by a 3-component regulatory system, designated LiaFSR, with a possible contribution of cardiolipin synthase (Cls).