Clinical manifestations, treatment and prognosis of juvenile idiopathic arthritis with pulmonary involvement in China: a single centre study.

Objectives: In recent years, the distinct clinical presentations and elevated mortality rates of various subtypes of juvenile idiopathic arthritis (JIA) with pulmonary involvement have garnered significant attention. This study aimed to elucidate the clinical characteristics of pulmonary involvement in patients with JIA to improve clinicians' knowledge.

Methods: This single-centre retrospective study analysed the baseline data, treatment options, follow-up of sixty patients of JIA with pulmonary involvement in China.

Long noncoding nuclear enriched abundant transcript 1_2 is a promising biomarker for childhood-onset systemic lupus erythematosus.

Importance: Systemic lupus erythematosus (SLE) is a diffuse connective tissue disease with complex clinical manifestations and prolonged course. The early diagnosis and condition monitoring of SLE are crucial to disease prognosis.

Objective: To assess the diagnostic value of long noncoding RNA (lncRNA) nuclear enriched abundant transcript 1 (NEAT1) in childhood-onset SLE (cSLE).

Machine learning for screening and predicting the risk of anti-MDA5 antibody in juvenile dermatomyositis children.

Objective: The anti-MDA5 (anti-melanoma differentiation associated gene 5) antibody is often associated with a poor prognosis in juvenile dermatomyositis (JDM) patients. In many developing countries, there is limited ability to access myositis- specific antibodies due to financial and technological issues, especially in remote regions. This study was performed to develop a prediction model for screening anti-MDA5 antibodies in JDM patients with commonly available clinical findings.

Clinical characteristics of 1020 childhood-onset systemic lupus erythematosus: data from a health centre in China.

Objectives: Childhood-onset systemic lupus erythematosus (cSLE) is a multisystem autoimmune disease characterised and presents partially differently from adults. A large cSLE cohort study is lacking in China. The present study aimed to determine the clinical characteristics in a large population of patients with cSLE, and compare with adult-onset SLE (aSLE) in an SLE cohort of China.

SAMHD1 associates with inflammation and vasculitis in paediatric-onset systemic lupus erythematosus.

Objectives: In this study, we aimed to explore the expression of the Aicardi-Goutières syndrome (AGS) mutant gene SAMHD1 in paediatric-onset systemic lupus erythematosus (pSLE), its correlations with clinical and laboratory parameters, and the relationship between its expression and the type 1 interferon (IFN) signalling pathway.

Methods: Peripheral blood from 98 pSLE patients and 44 gender and age-matched healthy individuals were examined. Gene expression levels of SAMDH1 and interferon-stimulated genes (ISGs; MxA, IRF3 and IRF7) were evaluated using real-time RT-PCR assays.

Early onset is an indication of the severity of DADA2 disease.

Objective: To find indicators of disease severity and factors of early remission in patients with deficiency of adenosine deaminase 2 (DADA2).

Methods: We enrolled six DADA2 patients from six families. Direct sequencing of adenosine deaminase 2 gene (ADA2) was performed by Sanger analysis.

Identification of 4 subgroups in juvenile dermatomyositis by principal component analysis-based cluster analysis.

Objectives: Juvenile dermatomyositis (JDM) is an autoimmune disease characterised by a great heterogeneity in its clinical manifestations. In this study, we aimed to investigate the association between different clinical subtypes, laboratory data, and myositis antibodies of JDM.

Methods: A total of 132 JDM patients were enrolled and their medical records were retrospectively reviewed and autoantibodies tested.

miR-1968-5p is involved in the pathogenesis of lupus nephritis of NZBWF1 mice by targeting csf1.

Objective: Lupus nephritis is one of the most common and severe systemic lupus erythematosus complications. However, the pathogenesis of lupus nephritis is still poorly understood. Increasing evidence has shown that microRNAs (miRNAs) are extensively involved in the pathophysiology of autoimmune diseases.

Clinical characteristics of cerebral venous sinus thrombosis in childhood-onset systemic lupus erythematosus patients: a single-centre study from China.

Objectives: Cerebral venous sinus thrombosis (CVST) is a rare complication of childhood-onset SLE (cSLE) and is potentially fatal to the patient. In order to better define the characteristics of CVST in cSLE, we analysed a single-centre study of cSLE presenting with CVST.

Methods: Clinical characteristics and laboratory findings of cSLE patients complicated with CVST from January 2006 to December 2019 were analysed through this retrospective, single-centre study.

Chronic active Epstein-Barr virus infection manifesting as coronary artery aneurysm and uveitis.

Background: Chronic active Epstein-Barr virus (CAEBV) infection is a type of lymphoproliferative disorder characterized by chronic or recurrent infectious mononucleosis (IM)-like symptoms, which can have less-frequent clinical presentations. The prognosis of CAEBV is poor, and hematopoietic stem cell transplantation (HSCT) has been shown to be the only potentially effective treatment. In this article, we present a special CAEBV case of a patient who had no typical IM-like symptoms at the early stage, but manifested with severe and progressive coronary artery aneurysm (CAA), abdominal aortic lesions, and severe uveitis.

Analysis of clinical manifestations and treatment in 26 children with fibrodysplasia ossificans progressiva in China.

Background: Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling heritable connective tissue disease that is difficult to treat. This study seeks to explore the clinical characteristics, clinical manifestations, treatment and prognosis of FOP to provide a clinical basis for its early diagnosis and treatment.

Methods: Twenty-six children with FOP were retrospectively analyzed in terms of their onset, clinical manifestations, auxiliary examinations and treatment.

Microarray expression profile of circular RNAs and mRNAs in children with systemic lupus erythematosus.

Background: Recently, it was reported that circular RNAs (circRNAs) play the crucial role in many physiological and biological processes and can be used as biomarkers. However, the information about circRNAs in children with systemic lupus erythematosus (SLE) is limited. The aim of this study is to determine the expression of circRNAs in children with SLE and investigate the significance of circRNA for diagnosing SLE.

Expression profile of long noncoding RNAs in children with systemic lupus erythematosus: a microarray analysis.

Objectives: Long noncoding RNAs (lncRNAs) are reported to play crucial roles in several physiological and biological processes. However, knowledge of lncRNAs in children with systemic lupus erythematosus (cSLE) remains limited. We investigate lncRNA expression profiling of cSLE and explore the potential function of lncRNAs.

Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS).

The aim of our study is to explore the features of clinical manifestations and genetic mutations in Chinese CAPS patients. Fifteen confirmed patients with CAPS were enrolled. The onset time ranges from 2 days after birth to 6 years and 1 month.

Gene mutations and clinical phenotypes in Chinese children with Blau syndrome.

The mutations of CARD15 gene and clinical features of Chinese patients with Blau syndrome were analyzed. We identified 10 missense mutations, out of which five were new: R334L, E383D, R471C, C495R and D512F. The rest of them, R334W, R334Q, G481D, M513T and R587C, have been reported previously.

[Value of serum ferritin in measuring the activation and prognosis in systemic onset juvenile idiopathic arthritis].

Objective: To explore the correlation of serum ferritin (SF) and systemic onset juvenile idiopathic arthritis (SOJIA) so as to determine the prognostic values of SF for SOJIA.

Methods: All samples were collected from 92 juvenile idiopathic arthritis (JIA) patients at Beijing Children's Hospital between February 2005 to September 2012. Their age range was 2-15 years.

[Clinical efficacy of mycophenolate mofetil in the treatment of systemic-onset juvenile idiopathic arthritis].

Objective: To evaluate the clinical efficacy of mycophenolate mofetil (MMF) in the treatment of systemic-onset juvenile idiopathic arthritis (SoJIA).

Methods: Thirty-five patients with a confirmed diagnosis of SoJIA who had received initial treatment were randomly divided into control (n=15), MMF1 (n=7) and MMF2 groups (n=13). The control group received conventional treatment, the MMF1 group received MMF after 2 weeks of conventional treatment that had not led to remission, and the MMF2 group received combination therapy with non-steroidal anti-inflammatory drugs, prednisone and MMF.

[Efficacy of thalidomide for treatment of juvenile idiopathic arthritis].

Objective: To evaluate the efficacy of thalidomide in the treatment of juvenile idiopathic arthritis (JIA).

Methods: Twelve children with JIA who did not respond to conventional treatment were administered with thalidomide (2 mg/kg daily). The symptoms, signs, and laboratory test results were compared before and after treatment.

[Macrophage activation syndrome in Chinese children with systemic onset juvenile idiopathic arthritis].

Objective: To review and analyze the clinical features, treatment, and outcome of macrophage activation syndrome (MAS) in children with systemic onset juvennil rheumatoid arthritis (SOJRA).

Method: Retrospective review and analysis were performed on cases with MAS from a prospectively collected database of children with SOJRA from the year of 2003 to 2006 in the Hospital.

Results: Twenty four patients (21 boys, 3 girls) were diagnosed as having MAS with SOJRA.