Endoplasmic reticulum stress causes long bone shortening in P4hb mice: A mouse model exhibiting significant features of cole-carpenter syndrome driven by P4HB mutations.

Cole-Carpenter syndrome (CCS) is a rare autosomal-dominant genetic disease characterized by craniosynostosis, ocular proptosis, hydrocephalus, distinctive facial features, and bone fragility. Previous cases of CCS are associated with genetic variations in P4HB, which encodes the protein disulfide isomerase (PDI), a key enzyme in protein folding. Patients with CCS caused by P4HB mutations often present with short stature, limb deformities, and abnormal epiphyseal plates.

Correlation Among Psoriasis, Iridocyclitis, and Non-alcoholic Fatty Liver Disease: Insights from Mendelian Randomization and Mediation Analysis.

The aim of this study is to utilize two-sample Mendelian randomization (MR) to investigate the potential causal relationship among psoriasis, iridocyclitis, and non-alcoholic fatty liver disease (NAFLD), and to explore any potential mediation effects. Pooled data were derived from the public genome-wide association study (GWAS) in NAFLD (finn-b-NAFLD), iridocyclitis (finn-b-H7_IRIDOCYCLITIS) and psoriasis (finn-b-L12_PSORI_VULG). Univariable MR (UVMR) analysis was implemented to explore the causal relationship among psoriasis, iridocyclitis, and NAFLD, and inverse variance weighting (IVW) was used as the primary analytical method.

A monoallelic variant in CCN2 causes an autosomal dominant spondyloepimetaphyseal dysplasia with low bone mass.

Cellular communication network factor 2 (CCN2) is a secreted extracellular matrix-associated protein, and its aberrantly increased expression has been implicated in a diversity of diseases involving pathological processes of fibrosis, chronic inflammation, or tissue injury, which has promoted the evaluation of CCN2 as therapeutic targets for multiple disorders. However, human phenotypes associated with CCN2 deficiency have remained enigmatic; variants in CCN2 have not yet been associated with a human phenotype. Here, we collected families diagnosed with spondyloepimetaphyseal dysplasia (SEMD), and screened candidate pathogenic genes for families without known genetic causes using next-generation sequencing.

The vitamin D status in a Chinese osteogenesis imperfecta population and its correlation with bone metabolic markers and bone density.

Objective: Studies on the baseline vitamin D levels in osteogenesis imperfecta (OI) patients before medication are scarce. This study assessed the vitamin D status of a population with OI at both the overall level and within different age groups. It correlated baseline 25-hydroxyvitamin D (25(OH)D) levels with other bone-related factors, biochemical markers, and bone density.

RBPJ Knockdown Promotes M2 Macrophage Polarization Through Mitochondrial ROS-mediated Notch1-Jagged1-Hes1 Signaling Pathway in Uveitis.

Uveitis is an autoimmune eye disease that can be involved in the entire body and is one of the leading causes of blindness. Therefore, comprehending the mechanisms underlying the development and regulation of ocular immune responses in uveitis is crucial for designing effective therapeutic interventions. In this study, we investigated how RBPJ regulates macrophage polarization in uveitis.

Lung function benefits of traditional Chinese medicine Qiju granules against fine particulate air pollution exposure: a randomized controlled trial.

Introduction: Multiple targets are considered as the causes of ambient fine particulate matter [aerodynamic diameters of < 2.5 μm (PM)] induced lung function injury. Qiju granules are derived from the traditional Chinese medicine (TCM) formula known as Qi-Ju-Di-Huang-Wan (Lycium, Chrysanthemum, and Rehmannia Formula, QJDHW), which has been traditionally used to treat symptoms such as cough with phlegm, dry mouth and throat, and liver heat.

The role of oxidative stress in the pathogenesis of ocular diseases: an overview.

Dysregulation of oxidative stress serves as a pivotal predisposing or exacerbating factor in the intricate development of numerous pathological processes and diseases. In recent years, substantial evidence has illuminated the crucial role of reactive oxygen species (ROS) in many fundamental cellular functions, including proliferation, inflammation, apoptosis, and gene expression. Notably, producing free radicals within ROS profoundly impacts a wide range of biomolecules, such as proteins and DNA, instigating cellular damage and impairing vital cellular functions.

Regulatory mechanism and therapeutic potentials of naringin against inflammatory disorders.

Naringin is a natural flavonoid with therapeutic properties found in citrus fruits and an active natural product from herbal plants. Naringin has become a focus of attention in recent years because of its ability to actively participate in the body's immune response and maintain the integrity of the immune barrier. This review aims to elucidate the mechanism of action and therapeutic efficacy of naringin in various inflammatory diseases and to provide a valuable reference for further research in this field.

Vitamin D status and its associations with bone mineral density, bone turnover markers, and parathyroid hormone in Chinese postmenopausal women with osteopenia and osteoporosis.

Background: Vitamin D is a key factor in bone metabolism, yet vitamin D insufficiency and deficiency are prevalent among postmenopausal women, with potential repercussions on bone mineral density (BMD), bone turnover markers (BTMs), and parathyroid hormone (PTH). Nonetheless, the findings from existing studies exhibit inconsistency, and a notable gap exists in the availability of large-scale investigations.

Methods: In this real-world study, 8,532 postmenopausal women over 50 years old with a diagnosis of osteopenia (50.

Endoscopic gastrointestinal bypass anastomosis using deformable self-assembled magnetic anastomosis rings (DSAMARs) in a pig model.

Background: To investigate the feasibility of a deformable self-assembled magnetic anastomosis ring (DSAMAR), designed and developed by us, for endoscopic gastrointestinal bypass anastomosis.

Methods: Ten experimental pigs were used as model animals. The DSAMAR comprises 10 trapezoidal magnetic units, arranged in a straight line under the constraint of a guide wire.

MiR-223-3p attenuates M1 macrophage polarization via suppressing the Notch signaling pathway and NLRP3-mediated pyroptosis in experimental autoimmune uveitis.

Autoimmune uveitis is an intraocular inflammatory disease with a high blindness rate in developed countries such as the United States. It is pressing to comprehend the pathogenesis of autoimmune uveitis and develop novel schemes for its treatment. In the present research, we demonstrated that the Notch signaling pathway was activated, and the level of miR-223-3p was significantly reduced in rats with experimental autoimmune uveitis (EAU) compared with the level of normal rats.

Cognitive Impairment in Chronic Kidney Disease Is Associated with Glymphatic System Dysfunction.

Introduction: This study was designed to explore the associations between impaired cognition in chronic kidney disease (CKD) patients and the dysfunction of the glymphatic system.

Method: Data were obtained from 77 CKD patients and 50 age-matched healthy control individuals from the First Affiliated Hospital of Zhengzhou University. CKD patients were stratified into with and without impaired cognitive function.

Magnetic anchor technique assisted endoscopic submucosal dissection for early esophageal cancer.

Background: Esophageal cancer has high incidence globally and is often diagnosed at an advanced stage. With the widespread application of endoscopic technologies, the need for early detection and diagnosis of esophageal cancer has gradually been realized. Endoscopic submucosal dissection (ESD) has become the standard of care for managing early tumors of the esophagus, stomach, and colon.

Novel deformable self-assembled magnetic anastomosis ring for endoscopic treatment of colonic stenosis natural orifice.

Background: Although endoscope-assisted magnetic compression anastomosis has already been reported for colonic anastomosis, there is no report on a single-approach operation using the natural orifice.

Aim: To design a deformable self-assembled magnetic anastomosis ring (DSAMAR) for colonic anastomosis for use in single-approach operation and evaluate its feasibility and safety through animal experiments.

Methods: The animal model for colonic stenosis was prepared by partial colonic ligation in eight beagles.

Magnetic compression anastomosis for reconstruction of digestive tract after total gastrectomy in beagle model.

Background: Magnetic compression anastomosis (MCA) is a simple procedure contributing to a reliable anastomosis. However, digestive-tract reconstruction after total gastrectomy using MCA has not yet been reported.

Aim: To investigate the feasibility of MCA for simultaneous esophagojejunostomy and jejunojejunostomy after total gastrectomy using beagle dogs.

Nanoarchitectonics of cellulose nanocrystal conjugated with a tetrasaccharide-glycoprobe for targeting oligodendrocyte precursor cells.

Demyelination is a serious complication of neurological disorders, which can be reversed by oligodendrocyte precursor cell (OPC) as the available source of myelination. Chondroitin sulfate (CS) plays key roles in neurological disorders, which still attracted less attention on how CS modulates the fate of OPCs. Nanoparticle coupled with glycoprobe is a potential strategy for investigating the carbohydrate-protein interaction.

Single-Cell Transcriptomic Atlas of Parathyroid Adenoma and Parathyroid Carcinoma.

Primary hyperparathyroidism is typically characterized by monoclonal parathyroid tumors that secrete an excessive amount of parathyroid hormone (PTH). However, the underlying pathogenesis of tumorigenesis remains unclear. We performed single-cell transcriptomic analysis on five parathyroid adenoma (PA) and two parathyroid carcinoma (PC) samples.

Effects of three different probiotics of Tibetan sheep origin and their complex probiotics on intestinal damage, immunity, and immune signaling pathways of mice infected with type C.

Tibetan sheep have unique intestinal microorganisms in their intestines that are adapted to the highland alpine and anoxic environment. To further clarify the probiotic properties of Tibetan sheep-derived probiotics, we selected three Tibetan sheep-derived probiotic isolates ( EF1-mh, BS1-ql, and LS-ql) to investigate the protective mechanisms of monocultures and their complex strains against type C infection in mice. We established a model of type C infection and used histology and molecular biology to analyze the effects and mechanisms of different probiotic treatments on mice after type C infection.

An experimental study of magnetic compression technique for ureterovesical anastomosis in rabbits.

This study aimed to explore the feasibility of the magnetic compression technique (MCT) for ureterovesical anastomosis in a rabbit model with ureteral obstruction. The distal ureteral obstruction model using female New Zealand rabbits was induced by ligating the distal end of the right ureter with silk thread for four weeks. A pair of cylindrical NdFeB magnets (daughter magnet and parent magnet) with a hole in the center was used for the ureterovesical anastomosis.

Impaired glymphatic drainage underlying obstructive sleep apnea is associated with cognitive dysfunction.

Obstructive sleep apnea (OSA) is highly prevalent but easily undiagnosed and is an independent risk factor for cognitive impairment. However, it remains unclear how OSA is linked to cognitive impairment. In the present study, we found the correlation between morphological changes of perivascular spaces (PVSs) and cognitive impairment in OSA patients.

Genomic Profiling Reveals the Variant Landscape of Sporadic Parathyroid Adenomas in Chinese Population.

Objective: To define somatic variants of parathyroid adenoma (PA) and to provide novel insights into the underlying molecular mechanism of sporadic PA.

Methods: Basic clinical characteristics and biochemical indices of 73 patients with PA were collected. Whole-exome sequencing was performed on matched tumor-constitutional DNA pairs to detect somatic alterations.

Arabinogalactan enhances virulence by suppressing host innate immune responses.

Arabinogalactan (AG) participates in forming the cell wall core of mycobacteria, a structure known as the mAGP complex. Few studies have reported the virulence of inartificial AG or its interaction with the host immune system. Using clustered regularly interspaced short palindromic repeats interference gene editing technology, conditional mutants were constructed with a low expression of or (EmbA_KD or GlfT2_KD), which are separately involved in the biosynthesis of AG arabinose and galactose domains.

Impact of Corticosteroids on the Proportions of Circulating Tfh Cell Subsets in Patients With Systemic Lupus Erythematous.

Objectives: This study aimed to analyze the distribution of T follicular helper (Tfh) cells in lupus patients, and the effects of steroids on circulating Tfh cells.

Methods: Circulating Tfh cell subsets were defined by multicolor flow cytometry as Tfh17, Tfh2 or Tfh1 subpopulations of CXCR5CD45RACD4 T cells in the peripheral blood of SLE patients and healthy controls. To test the effects of corticosteroid on Tfh cells, PBMC harvested from both SLE and healthy controls were cocultured with dexamethasone, and then analyzed by Flow cytometry.