Identification of variants in SWI/SNF complex genes associated with neurodevelopmental disorders.

Introduction: Neurodevelopmental disorder (NDDs) such as intellectual disability, developmental delay encompasses a diverse group of conditions caused by the disruptions in the central nervous system (CNS) during development. Variants in the SWItch/Sucrose non-fermentable (SWI/SNF) complex genes are significant contributors to NDDs. ARID2, ARID1B, and SMARCC2 are important subunits of the SWI/SNF complex, and their variants can also result in Coffin-Siris syndrome (CSS), a type of NDDs characterized by CNS disorders, global developmental delay, visual/hearing impairment, distinct facial features, and congenital heart disease (CHD).

HAPLN1 Exhibits Dual Effects: Facilitating Extracellular Matrix Restoration while Enhancing Inflammatory Mediator Production in Arthritic Chondrocytes.

Hyaluronan and proteoglycan link protein 1 (HAPLN1) secreted by fibroblast-like synoviocytes (FLSs) plays a critical role in the pathological process of inflammatory arthritis. This study aimed to investigate the impact and underlying mechanisms of HAPLN1 in an inflamed chondrocyte model. IL-1β-treated SW1353 chondrocytes were exposed to recombinant HAPLN1 (rHAPLN1).

Case Report: Two children with factor XII deficiency caused by novel compound heterozygous variants.

Background: Factor XII (FXII) deficiency (OMIM 234000) is a rare hereditary coagulation disorder caused by pathogenic variants within the gene. It causes prolonged activated partial thromboplastin time without bleeding diathesis. Most patients have no obvious clinical symptoms, so the disease is difficult to be detected.

Clinical feasibility and cortical effects of synchronous mirror therapy on speech-language and upper limb motor function after stroke.

Background: Post-stroke aphasia concurrent with upper limb (UL) motor dysfunction is very common and difficult to rehabilitate. Although mirror therapy (MT) has demonstrated efficacy in treating aphasia and UL motor dysfunction separately, it has not been utilized to address both conditions simultaneously. Our study introduces a novel Synchronous Mirror Therapy (SMT) system that integrates speech-language therapy with UL motor training to evaluate its clinical feasibility, preliminary efficacy, and potential cortical mechanisms.

Association between triglyceride-glucose index and the risk of cardiometabolic diseases in metabolically healthy obese individuals: a prospective cohort study.

Background: Metabolically healthy obese (MHO) individuals meet the criteria for obesity with normal blood glucose and lipid metabolism parameters, absence of hypertension, and no concurrent cardiovascular diseases. However, the association between the triglyceride-glucose (TyG) index and the risk of cardiometabolic disease (CMD) in MHO individuals remains unclear.

Methods And Results: This study included obese individuals who underwent health examinations at Kailuan Group from 2006 to 2010, whom without a history of hypertension, diabetes, hyperlipidemia, cardiovascular disease, as the study participants.

Synergistic Toxicity of Combined Exposure to Acrylamide and Polystyrene Nanoplastics on the Gut-Liver Axis in Mice.

Acrylamide (AA) and nanoplastics (NPs) are common food toxicants. However, their combined toxicity and health risks call for further studies. This study aimed to investigate the combined toxicity of AA and polystyrene NPs (PS-NPs) in mice through drinking water exposure.

[HAPLN1 secreted by synovial fibroblasts in rheumatoid arthritis promotes macrophage polarization towards the M1 phenotype].

Objective To investigate the effects of hyaluronic acid and proteoglycan-linked protein 1 (HAPLN1) secreted by synovial fibroblasts (FLS) on the polarization of macrophages (Mϕ) in rheumatoid arthritis (RA). Methods Human monocytic leukemia cells (THP-1) were differentiated into Mϕ, which were subsequently exposed to recombinant HAPLN1 (rHAPLN1). RA-FLS were transfected separately with HAPLN1 overexpression plasmid (HAPLN1) or small interfering RNA targeting HAPLN1 (si-HAPLN1), and then co-cultured with Mϕ to establish a co-culture model.

An Exploratory Study of Factors Associated with Medication Adherence in Chinese Rheumatoid Arthritis Patients.

Purpose: This study aims to estimate the prevalence of medication adherence in Chinese patients with RA and to identify factors influencing it.

Patients And Methods: A cross - sectional study was conducted, involving 1137 RA patients who were treated at a university hospital in Guizhou, China. Sociodemographic data, medication adherence, patient satisfaction, and quality of life (QoL) were collected through face-to-face interviews, while disease course and comorbidities (including pneumonia and gastrointestinal conditions) were extracted from hospital information systems (HIS).

Generation and characterization of a tamoxifen-inducible lineage tracing tool knock-in mice.

Introduction: The new targeted gene editing technologies, such as the CRISPR/Cas system, enable researchers to insert or delete genes at targeted loci efficiently. The Cre-loxp recombination system is widely used to activate or inactivate genes with high spatial and temporal specificity.

Methods: Using the CRISPR/Cas9 system, we inserted the transgene expression cassette into the gene locus to generate conditional Cre-driver line knock-in mice, which drove the expression of CreERT2 by the endogenous promoter.

High Cumulative Non-High-Density Lipoprotein-Cholesterol Concentration Increases the Risk of New-Onset Arterial Stiffness - A Prospective Cohort Study.

Background: The relationship between cumulative non-high-density lipoprotein-cholesterol (cum-non-HDL-C) and the risk of new-onset arterial stiffness has not been characterized.

Methods And Results: A total of 6,852 participants with 3 consecutive measurements of total cholesterol and HDL-C and a baseline brachial-ankle pulse wave velocity (baPWV) <1,400 cm/s during 2010-2011, 2012-2013, and 2014-2015 were included. The cum-non-HDL-C concentrations were determined using time weighting, and the participants were grouped: G1 <130 mg/dL, G2 130-159 mg/dL, G3 160-189 mg/dL, and G4 ≥190 mg/dL.

Anion gap predicting 90-Day mortality and guiding furosemide use in ARDS.

The objective of this study was to investigate whether serum anion gap (AG), which may serve as an indicator for multiple organic dysfunctions in the condition of hypoxia, could be utilized as a reliable prognostic marker for short-term mortality and a potential therapeutic target in patients with acute respiratory distress syndrome (ARDS). A retrospective cohort study was conducted using data from the Medical Information Mart for Intensive Care (MIMIC-IV) electronic database (version 2.2), including 11,227 confirmed patients with ARDS.

Pre-immunotherapy alters stereotactic ablative radiotherapy-induced systemic T cell responses in early-stage NSCLC.

Background: Stereotactic ablative radiotherapy (SABR) is thought to activate T cell responses in patients with cancer, leading to its combination with immunotherapy and chemotherapy for treatment of non-small-cell lung cancer (NSCLC). Here, we aimed to provide a high-resolution transcriptomic profiling of the systemic T cell response following SABR, with or without preceding immunotherapy/chemotherapy.

Methods: We conducted single-cell RNA and T cell receptor (TCR) sequencing of T cells from peripheral blood of seven patients with early-stage NSCLC taken pre- and post-SABR without or with prior immunotherapy and chemotherapy (icSABR).

Adipose tissue may not be a major player in the inflammatory pathogenesis of Autism Spectrum Disorder.

Purpose: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder increasingly recognized for its strong association with chronic inflammation. Adipose tissue functions as an endocrine organ and can secrete inflammatory cytokines to mediate inflammation. However, its involvement in ASD-related inflammation remains unclear.

Integrated transcriptomics, metabolomics and physiological analyses reveal differential response mechanisms of wheat to cadmium and/or salinity stress.

Many soils face dual challenges of cadmium (Cd) contamination and salinization. However, the response of crops, especially wheat, to combined Cd and salinity stress is not understood. Here, wheat was grown in a hydroponic model for 14 days under single and combined Cd and NaCl stresses.

Jin-Gu-Lian Capsule Did Not Significantly Improve Clinical Value in Rheumatoid Arthritis Therapy: A Real-World Study.

Purpose: To investigate the clinical value of adding Jin-gu-lian (JGL) capsules into rheumatoid arthritis (RA) treatment by examining its impact on disease activity and quality of life (QoL) through a real-world study (RWS).

Patients And Methods: RWS was conducted to compare the inflammatory markers, including IgM-RF, ESR, and CRP, between RA patients treated with only Western medicine (reference group) and Western medicine plus JGL (study group) during one-year follow-up. The clinical data was acquired from the hospital information system (HIS).

Construction and application of fetal loss risk model in systemic lupus erythematosus patients with mild disease severity.

Background: This dynamic nomogram model was developed to predict the probability of fetal loss in pregnant patients with systemic lupus erythematosus (SLE) with mild disease severity before conception.

Methods: An analysis was conducted on 314 pregnancy records of patients with SLE who were hospitalized between January 2015 and January 2022 at Shenzhen People's Hospital, and the Longhua Branch of Shenzhen People's Hospital. Data from the Longhua Branch of the Shenzhen People's Hospital were utilized as an independent external validation cohort.

Secretory Phenotype in Peripheral Blood Mononuclear Cells of Elderly Patients with Rheumatoid Arthritis.

This study aims to investigate the expression differences of peripheral blood mononuclear cells (PBMCs) in patients with elderly rheumatoid arthritis (ERA). Differentially expressed genes (DEGs) of PBMCs between young patients with RA (RA_Y) and elderly patients with RA (RA_A) were identified by RNA sequencing using the package, followed by bioinformatics analysis. The overlapped targets of the current DEGs and proteomic differentially expressed proteins (another set of unpublished data) were identified and further validated.

JCM 1112 ameliorates chronic acrylamide-induced glucose metabolism disorder the bile acid-TGR5-GLP-1 axis and modulates intestinal oxidative stress in mice.

Acrylamide (AA) is a toxic food contaminant that has been reported to cause glucose metabolism disorders (GMD) at high doses. However, it is unclear whether chronic low-dose AA can induce GMD and whether probiotics can alleviate AA-induced GMD. Here, C57BL/6N mice were orally administered with 5 mg per kg bw AA for 10 weeks, followed by another 3 weeks of glucagon-like peptide-1 (GLP-1) analogue (dulaglutide) treatment.