Case Report: spontaneous mutation in a familial hemophagocytic lymphohistiocytosis patient with a complex heterozygous mutation in .

Familial hemophagocytic lymphohistiocytosis type 2 (FHL2), caused by perforin 1 (PRF 1), is a rare and fatal autosomal recessive disorder characterized by a hyperinflammatory syndrome and the accumulation of activated T lymphocytes and histiocytes in the reticuloendothelial system. Autoimmune lymphoproliferative syndrome (ALPS) is an autoimmune disease that typically presents in children with lymphadenopathy, splenomegaly, and cytopenias or lymphomas. We report a case of a 9-year-old boy who was newly diagnosed with FHL, carrying a new type of compound heterozygous mutations (c.

Gut microbiota dysbiosis and systemic immune dysfunction in critical ill patients with multidrug-resistant bacterial colonization and infection.

Background: Antimicrobial resistance (AMR) poses a global health threat, particularly in critically ill patients with multidrug-resistant organism (MDRO) colonization or infection. While evidence suggests the gut microbiota plays a critical role in MDRO colonization and infection, its specific characteristics and the host immune response remain poorly understood.

Methods And Results: This case-control study compared 88 MDRO-infected patients, 100 MDRO-colonized patients, and 86 healthy controls, using 16S rRNA sequencing and cytokine profiling.

Umbilical cord-derived exosomes alleviate spinal cord injury by regulating microglial polarization through miR-340-5p-mediated modulation of the JAK/STAT3 signaling pathway.

Spinal cord injury (SCI) is a condition of the central nervous system, results in impairments in both sensory and motor functions. Presently, there exists a deficiency in efficacious therapies. Nonetheless, employing exosomes, a derivative of human umbilical cord mesenchymal stem cells (hucMSCs), is proven to be a successful approach in treating SCI, yet the exact way they function is still not well understood.

Tumor Necrosis Factor Alpha-Mediated Interaction Between Microglia and Müller Cells Exacerbates Retinal Ganglion Cell Damage in Experimental Glaucoma.

Interaction between Müller cells and microglia aggravates neuroinflammation, resulting in retinal ganglion cell (RGC) death in glaucoma. Here, we investigated how tumor necrosis factor-alpha (TNF-α) produced by activated microglia mediates the crosstalk between Müller cells and microglia and impacts RGC injury in a chronic ocular hypertension (COH) glaucoma model. In COH retinas, elevated TNF-α induced the activation of Müller cells and microglia, and recruited microglia to the ganglion cell layer.

Schizophrenia-associated alterations in fecal mycobiota and systemic immune dysfunction: a cohort study of elderly Chinese patients.

Schizophrenia (SZ) is a severe psychiatric disorder with a complex etiology involving both genetic and environmental factors. Emerging evidence highlights the role of gut microbiome dysbiosis in SZ, yet the fungal component (mycobiota) remains largely unexplored. This study aimed to evaluate the gut mycobiota using internal transcribed spacer 1 (ITS1) amplicon sequencing and assess host immune responses via multiplex immunoassays in 87 elderly SZ patients and 64 age- and gender-matched healthy controls (HCs).

Investigation of the anticancer efficacy and impact on energy metabolism of dual-core gold(i) complex BGC2a.

Dual-core gold(i) complex BGC2a has been shown to have superior anticancer potential to the clinical candidate auranofin (AF) in non-small lung cancer cells and . In this work, we further investigate BGC2a's potential as an anticancer candidate in a set of different cancer cell lines as well as its safety profile in normal cells. BGC2a (IC ranging from 0.

Associations of Anthropometric Indicators with Bone Mineral Density and the Risk of Bone Fractures and Falls: A Large-Scale Genetic Correlation Study.

Introduction: Although observational studies have suggested potential associations between Anthropometric Indicators (AIs), Osteoporosis (OP), and bone fractures, the causal links are still scarce. This study aimed to comprehensively evaluate the causal relationships between five AIs and site- and age-specific Bone Mineral Density (BMD), as well as bone fractures and falls.

Methods: Genetic exposure data for AIs and outcome data for BMD, bone fractures, and falls were retrieved from various genetic consortia.

Sustainable strategies for marine plastic waste remanufacturing systems under diverse carbon reduction policies.

This study examines the challenges facing the marine plastic waste remanufacturing industry in improving ecological outcomes and reducing carbon emissions. It focuses on how to effectively incentivize the front-line collectors to participate in and comply with government carbon policies. Using a differential game framework, we analyze the effects of various carbon reduction policies and revenue-sharing mechanisms on waste management performance, carbon mitigation, and blockchain adoption.

Gut microbiota-driven neuroinflammation in Alzheimer's disease: from mechanisms to therapeutic opportunities.

Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by amyloid-beta (Aβ) plaques, tau hyperphosphorylation, and chronic neuroinflammation. While neuroinflammation-mediated by microglial and astrocyte activation-has long been considered a secondary response to Aβ pathology, emerging evidence positions it as a primary driver of cognitive decline. Notably, the gut microbiota, through the microbiota-gut-brain axis (MGBA), is crucial in modulating neuroinflammation.

A High-Fidelity RNA-Targeting Cas13X Downregulates Connexin43 in Macroglia: A Novel Neuroprotective Strategy for Glaucoma.

Glaucoma is a neurodegenerative disease characterized by the progressive degeneration of retinal ganglion cells (RGCs) and their axons, ultimately leading to irreversible vision loss. Elevated intraocular pressure (IOP) is one of the significant risk factors in glaucoma; however, neurodegeneration continues even after effective IOP management, underscoring the need for neuroprotective therapies. This study investigates the role of connexin43 (Cx43), which is extensively expressed in retinal macroglia, in regulating microglial activation and optic nerve degeneration in glaucoma.

Optimization of ultrasound enzyme-assisted trehalose lipid extraction of Coptis alkaloids and evaluation of its anti-inflammatory effects.

Coptidis Rhizoma (CR), a traditional Chinese medicine, has extensive pharmacological activity because it is rich in isoquinoline alkaloids. Nonetheless, the limited solubility of these alkaloids presents a significant challenge, hindering the full realization of CR's therapeutic potential through conventional extraction methods. To address this issue and enhance the solubility of the target compounds while optimizing extraction efficiency, this study employed an environmentally sustainable extraction technique, Ultrasound-Enzyme-Trehalose Lipid (UET), to synergistically extract five key alkaloids from CR.

Glabridin Alleviates Metabolic Disorders in Diet-Induced Diabetic Mice.

Glabridin (GLD) is a flavonoid derived from licorice. This study aims to evaluate GLD's therapeutic potential in ameliorating type 2 diabetes mellitus (T2DM) and elucidate its underlying mechanisms of action. A T2DM model was established using male C57BL/6J mice fed a high-fat, high-glucose diet.

Harnessing the human gut microbiota: an emerging frontier in combatting multidrug-resistant bacteria.

Antimicrobial resistance (AMR) has become a major and escalating global health threat, undermining the effectiveness of current antibiotic and antimicrobial therapies. The rise of multidrug-resistant bacteria has led to increasingly difficult-to-treat infections, resulting in higher morbidity, mortality, and healthcare costs. Tackling this crisis requires the development of novel antimicrobial agents, optimization of current therapeutic strategies, and global initiatives in infection surveillance and control.

Gold complex QB1561 suppresses drug-resistant cancer cells by inhibiting TrxR and mitochondrial respiratory function.

Introduction: Multi-drug resistance (MDR) is one of the leading reasons that cause the failures of cancer treatment. Novel agents that may reverse MDR and neutralize drug-resistant cancer cells are highly desirable for clinical practice. The targeting of cellular redox homeostasis and/or mitochondria-mediated energy metabolism are promising strategies for the suppression of drug-resistant cancer cells.

Prognostic and clinicopathological role of soluble programmed cell death ligand-1 in patients with diffuse large B-cell lymphoma: a meta-analysis.

Background: The significance of soluble programmed death protein ligand-1 (PD-L1) in predicting the prognosis of diffuse large B-cell lymphoma (DLBCL) has been previously analyzed, but with conflicting results. This study investigated the effect of soluble PD-L1 (sPD-L1) expression on the prognosis of patients with DLBCL.

Methods: We comprehensively searched the Web of Science, PubMed, Embase, and CNKI databases between their inception and August 14, 2024.

Advances in the Development and Application of Human Organoids: Techniques, Applications, and Future Perspectives.

Organoids are three-dimensional (3D) cell cultures derived from human pluripotent stem cells or adult stem cells that recapitulate the cellular heterogeneity, structure, and function of human organs. These microstructures are invaluable for biomedical research due to their ability to closely mimic the complexity of native tissues while retaining human genetic material. This fidelity to native organ systems positions organoids as a powerful tool for advancing our understanding of human biology and for enhancing preclinical drug testing.

Vinylene-Linked Donor-π-Acceptor Metal-Covalent Organic Framework for Enhanced Photocatalytic CO Reduction.

Intramolecular charge separation driving force and linkage chemistry between building blocks are critical factors for enhancing the photocatalytic performance of metal-covalent organic framework (MCOF) based photocatalyst. However, robust achieving both simultaneously has yet to be challenging despite ongoing efforts. Here we develop a fully π-conjugated vinylene-linked multivariate donor-π-acceptor MCOF (D-π-A, termed UJN-1) by integrating benzyl cyanides linker with multiple functional building blocks of electron-rich triphenylamine and electron-deficient copper-cyclic trinuclear units (Cu-CTUs) moieties, featuring with strong intramolecular charge separation driving force, extended conjugation degree of skeleton, and abundant active sites.

Novel gold-based complex GC7 suppresses cancer cell proliferation via impacting energy metabolism mediated by mitochondria.

Due to their pivotal roles in regulating energy metabolism and apoptosis, mitochondria in cancer cells have been considered a vulnerable and feasible target. Many anticancer agents, e.g.

Altered gut microbiota and systemic immunity in Chinese patients with schizophrenia comorbid with metabolic syndrome.

Background: Metabolic syndrome (MetS) is highly prevalent in individuals with schizophrenia (SZ), leading to negative consequences like premature mortality. Gut dysbiosis, which refers to an imbalance of the microbiota, and chronic inflammation are associated with both SZ and MetS. However, the relationship between gut dysbiosis, host immunological dysfunction, and SZ comorbid with MetS (SZ-MetS) remains unclear.

[Formation Potential of Secondary Organic Aerosols and Sources of Volatile Organic Compounds During an Air Pollution Episode in Autumn, Langfang].

A typical particulate matter pollution process occurred from October 9 to 17,2018,in Langfang,and 99 types of volatile organic compounds (VOCs) were monitored by using ZF-KU-1007. The characteristics of VOCs,formation potential of secondary organic aerosol (SOA),and source of VOCs were systematically analyzed. The results showed that the maximum concentration of PM was 198 μg·m during the pollution process and was 2.