Two Novel Variants of the CAPN3 Gene in Chinese Patients with Limb-Girdle Muscular Dystrophy Recessive 1.

Introduction: Recessive mutations in the CAPN3 gene can lead to limb-girdle muscular dystrophy recessive 1 (LGMD R1). Targeted next-generation sequencing facilitates the discovery of new mutations linked with disease, owing to its ability to selectively enrich specific genomic regions.

Methods: We performed targeted next-generation sequencing of all exons of the CAPN3 gene in 4 patients with sporadic limb-girdle muscular dystrophy (LGMD) and further analyzed the effects of the novel identified variant using various software tools.

Effects of silent brain infarction on the hemorrhagic transformation and prognosis in patients with acute ischemic stroke after intravenous thrombolysis.

Background: Silent brain infarction (SBI) is a special type of stroke with no definitive time of onset, which can be found on pre-thrombolysis imaging examination in some patients with acute ischemic stroke (AIS). However, the significance of SBI on intracranial hemorrhage transformation (HT) and clinical outcomes after intravenous thrombolysis therapy (IVT) is uncertain. We aimed to explore the effects of SBI on intracranial HT and the 3-month clinical outcome in patients with AIS after IVT.

Inducible costimulator ligand (ICOSL) on CD19 B cells is involved in immunopathological damage of rheumatoid arthritis (RA).

Inducible costimulator (ICOS) and its ligand (ICOSL) are critical to regulate the immune response in autoimmune diseases. The participation of B lymphocytes exhibits pathogenic potential in the disease process of rheumatoid arthritis (RA). However, the precise role of ICOSL in RA remains unclear.

Primary biliary cirrhosis associated with myasthenia gravis after postpartum: a case report.

Background: Autoimmune diseases refers to a class of diseases involving abnormal immune response of human body and tissue damage caused by the dysregulation of autoimmune balance or destruction of immune tolerance. Recent research has revealed that the occurrence of autoimmune diseases is influenced by genetic, hormonal, immunological, and environmental factors. As sex hormone levels change obviously during pregnancy and postpartum, the morbidity and recurrence rate of autoimmune diseases increase during this period.

hsa-miR-7 Is a Potential Biomarker for Idiopathic Inflammatory Myopathies with Interstitial Lung Disease in Humans.

microRNAs (miRNAs) have been identified as biomarkers for various diseases. However, the significance of circulating miRNAs for the diagnosis of idiopathic inflammatory myopathies (IIM) is still unknown. In this study, we aim to investigate the significance of miRNAs as potential biomarkers for predicting the patients with IIM and interstitial lung disease (ILD) METHODS: Total RNA was isolated from plasma of 43 IIM patients and 43 healthy people.

OX40 signaling is involved in the autoactivation of CD4CD28 T cells and contributes to the pathogenesis of autoimmune arthritis.

Background: CD4CD28 T cells exhibit autoreactive potential in autoimmune disorders, including rheumatoid arthritis (RA). It is not well known which costimulator functions as an alternative second signal in the activation of this subset after CD28 expression is downregulated. Tumor necrosis factor receptor superfamily member OX40 is a key costimulator in the activation of T cells.

Development of a Novel Functional Monoclonal Antibody to Human CD275: Characterization and Biological Activity.

CD275 (B7-H2, ICOSL), a co-stimulatory molecule of the B7 superfamily, plays a critical role in immune response. In this report, a novel mouse anti-human CD275 monoclonal antibody (MAb) was prepared using hybridoma technology, and immunological characteristics of the MAb were determined. The results showed that the MAb (clone 13D11) was IgG2(κ) and bound specifically to human CD275.

Soluble PD-1 aggravates progression of collagen-induced arthritis through Th1 and Th17 pathways.

Introduction: The programmed cell death 1 (PD-1) protein is a critical regulator of T-cell activation and is also an important therapeutic target for autoimmune diseases. Little is known about the regulation and functional properties of the soluble PD-1 (sPD-1) variant. The aim of this study was to examine the role of sPD-1 in the regulation of human and murine rheumatoid arthritis (RA).

Correlation between B7-H3 expression and rheumatoid arthritis: A new polymorphism haplotype is associated with increased disease risk.

CD276 (B7-H3) is a costimulatory molecule that plays a potent role in T cell responses, however, the role of B7-H3 in autoimmune diseases has not been elucidated. We analyzed B7-H3 expression in rheumatoid arthritis (RA) for the first time and found B7-H3 was significantly up-regulated on monocytes in RA patients, while the levels of soluble B7-H3 in serum were lower than in controls (P < 0.0001).

A Promoter Region Polymorphism in PDCD-1 Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China.

Objective. Programmed cell death 1 (PD-1) induces negative signals to T cells during interaction with its ligands and is therefore a candidate gene in the development of autoimmune diseases such as rheumatoid arthritis (RA). Herein, we investigate the association of PDCD-1 polymorphisms with the risk of RA among Chinese patients and healthy controls.

[Expressions and clinical significance of OX40 and OX40L in peripheral blood of patients with primary Sjogren's syndrome].

Objective: To investigate the expressions of costimulatory molecules OX40 and OX40L on peripheral blood mononuclear cells (PBMC) and their relationship with clinical characteristics of patients with primary Sjogren's syndrome (pSS).

Methods: Peripheral blood samples were collected from 51 pSS patients and 36 healthy subjects (HC). The expressions of OX40 and OX40L on PBMC were detected by immunofluorescence and flow cytometry.

Rapamycin protects the mitochondria against oxidative stress and apoptosis in a rat model of Parkinson's disease.

Parkinson's disease (PD) is a neurodegenerative disease, in which oxidative stress and mitochondrial dysfunction are responsible for neuronal apoptosis. Rapamycin plays a crucial role in reducing oxidative stress and protecting the mitochondria. However, its protective role in PD has not yet been fully elucidated.

Enhancement of membrane B7-H3 costimulatory molecule but reduction of its soluble form in multiple sclerosis.

Purpose: Multiple sclerosis (MS) is an autoimmune disease of the central nervous system mediated by T cells. B7-H3 plays a diverse role in regulating T cell responses. However, its expression and clinical significance in MS are not well known.

[Expression of B7-H3 costimulatory molecule in peripheral blood of myasthenia gravis patients].

Aim: To reveal the clinical significance of B7-H3 costimulatory molecule in myasthenia gravis (MG) patients by analyzing membranous B7-H3 (mB7-H3) and soluble B7-H3 (sB7-H3) expressions.

Methods: We collected peripheral blood samples of 35 MG patients and 44 health controls (HC) and detected the expression of mB7-H3 on peripheral blood mononuclear cells (PBMCs) using flow cytometry. ELISA was performed to analyze the levels of sB7-H3 in plasma samples from MG patients and HC.