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Vol 16, No 1
Vol 16, No 1 February 2020 ISSN 1708-8569
Review articles
Original articles
Keeping up with the progress in the diagnosis and management of pediatric rheumatic diseases
  Hong-Mei Song
  [Abstract] [Full Text] [PDF]  
Review articles:
Immunological pathogenesis and treatment of systemic lupus erythematosus
  Lu Pan, Mei-Ping Lu, Jing-Hua Wang, Meng Xu, Si-Rui Yang
Background: Systemic lupus erythematosis (SLE) is a complex and clinically heterogeneous autoimmune disease. A variety of immunological defects contribute to SLE, including dysregulated innate and adaptive immune response. A clearer understanding of the mechanisms driving disease pathogenesis combined with recent advances in medical science is predicted to enable accelerated progress towards improved SLE-personalized approaches to treatment. The aim of this review was to clarify the immunological pathogenesis and treatment of SLE.
Data sources: Literature reviews and original research articles were collected from database, including PubMed and Wanfang. Relevant articles about SLE were included.
Results: Breakdown of self-tolerance is the main pathogenesis of SLE. The innate and adaptive immune networks are interlinked with each other through cytokines, complements, immune complexes and kinases of the intracellular machinery. Treatments targeted at possible targets of immunity have been assessed in clinical trials. Most of them did not show better safety and efficacy than traditional treatments. However, novel targeting treatments are still being explored.
Conclusions: Dysregulated immune response plays a critical role in SLE, including innate immunity and adaptive immunity. Biologic agents that aim to specifically target abnormal immune processes were assessing and may bring new hope to SLE patients.
  [Abstract] [Full Text] [PDF]  
Juvenile dermatomyositis: advances in clinical presentation, myositis-specific antibodies and treatment
  Jian-Qiang Wu, Mei-Ping Lu, Ann M. Reed
Background: Juvenile dermatomyositis (JDM) is a chronic autoimmune disease characteristic by inflammation of small vessels within the skin, muscle and vital organs. But the clinical features and treatment of JDM have not been fully clarified.
Data sources: Databases underwent through PubMed for articles about the clinical features, myositis-specific antibodies of JDM and its treatment, and we selected publications written in English which were relevant to the topic of this review.
Results: Clinical features and myositis-specific antibodies may predict the severity and prognosis of disease. Although the mortality rate has been lower with traditional treatments, such as corticosteroid, intravenous immunoglobulin, and disease-modifying anti-rheumatic drugs such as methotrexate, their usages are variable. Novel biological therapies seem to be effective for refractory JDM patients, but more clinical trials are necessary.
Conclusions: JDM is a sever disease of childhood. We need to better understand recent advances of JDM in the context of clinical features including skin manifestations, muscle weakness and organ damage, myositis-specific antibodies and their associated outcomes and the treatment of disease.
  [Abstract] [Full Text] [PDF]  
Toward a better understanding of type I interferonopathies: a brief summary, update and beyond
  Zhong-Xun Yu, Hong-Mei Song
Background: Type I interferonopathy is a group of autoinflammatory disorders associated with prominent enhanced type I interferon signaling. The mechanisms are complex, and the clinical phenotypes are diverse. This review briefly summarized the recent progresses of type I interferonopathy focusing on the clinical and molecular features, pathogeneses, diagnoses and potential therapies.
Data sources: Original research articles and literature reviews published in PubMed-indexed journals.
Results: Type I interferonopathies include Aicardi-Goutieres syndrome, spondyloenchondro-dysplasia with immune dysregulation, stimulator of interferon genes-associated vasculopathy with onset in infancy, X-linked reticulate pigmentary disorder, ubiquitin-specifi c peptidase 18 deficiency, chronic atypical neutrophilic dermatitis with lipodystrophy, and Singleton-Merten syndrome originally. Other disorders including interferon-stimulated gene 15 deficiency and DNAse II deficiency are believed to be interferonopathies as well. Intracranial calcification, skin vasculopathy, interstitial lung disease, failure to thrive, skeletal development problems and autoimmune features are common. Abnormal responses to nucleic acid stimuli and defective regulation of protein degradation are main mechanisms in disease pathogenesis. First generation Janus kinase inhibitors including baricitinib, tofacitinib and ruxolitinib are useful for disease control. Reverse transcriptase inhibitors seem to be another option for Aicardi-Goutieres syndrome.
Conclusions: Tremendous progress has been made for the discovery of type I interferonopathies and responsible genes. Janus kinase inhibitors and other agents have potential therapeutic roles. Future basic, translational and clinical studies towards disease monitoring and powerful therapies are warranted.
  [Abstract] [Full Text] [PDF]  
Current status and recent advances on the use of ultrasonography in pediatric rheumatic diseases
  Li-Xia Zou, Mei-Ping Lu, Lawrence Kwok Leung Jung
Background: Ultrasonography has become a useful tool in the clinical rheumatology settings in the last two decades, but its use has only recently been explored by pediatric rheumatologists. The aim of this article is to review the literature on the current status and recent advances on the use of ultrasound in pediatric rheumatic diseases.
Data sources: We have retrieved and reviewed the relevant articles from MEDLINE/PubMed databases published so far, on the applications of ultrasound in juvenile idiopathic arthritis (JIA), systemic lupus erythematosus, dermatomyositis, enthesitis, Sjogren°Įs syndrome, and other rheumatic diseases. In addition, articles on novel ultrasound imaging technology of potential use in pediatric rheumatology are also reviewed.
Results: In JIA, ultrasound can be used to detect subclinical synovitis, to improve the classification of patients in JIA subtypes, to capture early articular damage, to monitor treatment response, and to guide intraarticular injections. Ultrasound is also considered useful in other rheumatic disorders for the evaluation of musculoskeletal symptoms, assessment of parotid gland pathology, and measurement of skin thickness and pathology. Novel ultrasound techniques developed to augment the functionality of ultrasonography may also be applicable in pediatric rheumatic disorders.
Conclusions: Ultrasound shows great promise in the assessment and management of children with rheumatologic disorders. However, standardization and validation of ultrasound in healthy children and in patients with rheumatic diseases are still needed.
  [Abstract] [Full Text] [PDF]  
Original articles:
Diagnostic value of diffusion-weighted MRI for imaging synovitis in pediatric patients with inflammatory conditions of the knee joint
  Mengxia Li, Alexander Sauer, Annette Holl-Wieden, Thomas Pabst, Henning Neubauer
Background: Diffusion-weighted imaging (DWI) of synovitis has been suggested as a possible non-invasive alternative to contrast-enhanced T1w imaging (ce-T1w). We aimed to study DWI for diagnosing synovitis in the knee joint of pediatric patients, to quantify inter-observer agreement on DWI and ce-T1w and to calculate quantitative measures of synovial diffusivity and conspicuity.
Methods: Forty consecutive patients with known or suspected arthritis of the knee (25 girls, median age 12 years) underwent routine 1.5T MRI with ce-T1w and transverse DWI with b values 50 and 800 s/mm2. Mean apparent diffusion coefficient (ADC) values and signal intensity of inflamed synovium, joint effusion and muscle were measured with regions of interest retrospectively. Post-contrast T1w images (diagnostic standard) and diffusion-weighted images at b = 800 s/mm2 with ADC map were separately rated by three independent and blinded readers with different levels of expertise for the presence and degree of synovitis along with the level of diagnostic confidence.
Results: Thirty-one (78%) patients showed at least some synovial contrast enhancement, 17 (43%) children were diagnosed with synovitis on ce-T1w. Ratings by the 1st reader on ce-T1w and on DWI for synovitis showed very good agreement (kappa = 0.90). Inter-observer agreement on DWI ranged from moderate to substantial with kappa values between 0.68 and 0.79 (all P < 0.001). Agreement and diagnostic confidence were generally lower in patients with mild and without synovial enhancement, compared to patients with synovitis. DWI yielded higher signal of inflamed synovium vs. muscle tissue, but lower signal vs. joint effusion, compared to ce-T1w (all P < 0.001).
Conclusions: Diffusion-weighted imaging is a promising, though reader-dependent alternative to contrast-enhanced imaging in patients with arthritis of the knee, based on our preliminary findings. It holds potential for increasing patient safety and comfort.
  [Abstract] [Full Text] [PDF]  
Infliximab therapy and outcomes in patients with polyarticular juvenile idiopathic arthritis: a single-center study in China
  Da-Wei Liu, Jiao-Jiao Chen, Xue-Mei Tang, Yu Zhang, Juan Zhou
Background: Juvenile idiopathic arthritis (JIA) is a chronic inflammatory disease that includes seven heterogeneous subgroups with different prognoses. In particular, polyarticular JIA (pJIA) has a longer period of active disease and a poorer prognosis. Tumor necrosis factor (TNF)-alpha inhibitors are effective in patients with pJIA, but the therapeutic regimen remains controversial. Here, we performed a single-center study to determine the potential correlation between TNF-alpha inhibitor (infliximab) therapy and outcomes in these patients.
Methods: Clinical data of 40 pJIA patients were collected at our center from January 1, 2010 to January 1, 2018, and patients were grouped according to the timing of infliximab therapy. The erythrocyte sedimentation rate (ESR), the number of joints with active disease, and the 27-point juvenile arthritis disease activity score (JADAS-27) were analyzed.
Results: The ESR, the active joint count, and the JADAS-27 decreased significantly in all groups after 3 months
(P = 0.041/0.415/0.008, 0.022/0.030/ < 0.001, and 0.05/0.012/ < 0.001, respectively) and 6 months (P = 0.036/0.045/0.041, 0.076/0.037/ < 0.001, and 0.096/0.006/ < 0.001, respectively) of infliximab treatment, although the rates of change of these parameters were similar. However, after 12 months, only patients treated with infliximab within 3 months of disease onset had a stable ESR, active joint count, and JADAS-27, while these parameters increased sharply when infliximab was administered 3 months and especially 1 year after disease onset.
Conclusions: TNF-alpha is a pleiotropic pro-inflammatory cytokine of crucial importance in the pathogenesis of JIA. Infliximab can improve the outcomes of patients with pJIA significantly, and should be introduced early during the clinical course.
  [Abstract] [Full Text] [PDF]  
Features distinguishing juvenile idiopathic arthritis among children with musculoskeletal complaints
  Satita Jeamsripong, Sirirat Charuvanij
Background: Musculoskeletal (MSK) complaints in children vary, ranging from benign, self-limited conditions to serious disorders. Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease, initially presenting with MSK complaints. Delayed diagnosis and appropriate treatment have an enormous impact on the long-term outcomes and the level of disability. This study aimed to identify the features distinguishing JIA among children presenting with MSK complaints and to describe the spectrum of diseases at a large, single, tertiary center.
Methods: A retrospective chart review was performed of patients evaluated by pediatric rheumatology consultation at the Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand, from July 2011 to June 2015.
Results: Of 531 patients, 285 (53.6%) had at least one MSK complaint. The mean age of the patients was 9.1 °ņ 4.1 years. Joint pain was the most common MSK complaint (86.3%), followed by limping (33%) and refusal to walk (19.6%). Joint swelling and limited range of motion were found in 146 (51.2%) and 115 (40.4%) patients, respectively. Seventy-three (25.6%) patients were diagnosed as JIA. The other common diagnoses included Henoch-Schönlein purpura (16.1%), reactive arthritis (14.2%), and systemic lupus erythematosus (13.7%). Morning stiffness °› 15 minutes [odds ratio (OR) 8.217 (3.404-19.833)]; joint swelling on MSK examination [OR 3.505 (1.754-7.004)]; a duration of MSK complaints of more than 6 weeks [OR 2.071 (1.120-3.829)]; and limping [OR 1.973 (1.048-3.712)] were significantly associated with the ultimate diagnosis of JIA.
Conclusions: Morning stiffness °› 15 minutes is a strong predictor of JIA. Comprehensive history taking and an MSK examination will provide clues for making the ultimate diagnosis for children with MSK complaints.
  [Abstract] [Full Text] [PDF]  
Analysis of clinical manifestations and treatment in 26 children with fibrodysplasia ossificans progressiva in China
  Jun-Mei Zhang, Cai-Feng Li, Shuang-Ying Ke, Yu-Rong Piao, Tong-Xin Han, Wei-Ying Kuang, Jiang Wang, Jiang-Hong Deng, Xiao-Hua Tan, Chao Li
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.
Results: Among the 26 cases, the youngest age of manifestation of mass was 8 days after birth, and the average age was 3 years and 2 months. The peak age was 2-5 years old. Inflammatory mass and toe-finger deformity are the main early clinical manifestations of the disease. These inflammatory masses often lead to hard osteogenic deposits that initially mainly involve the central axis, such as the neck (22/26, 84.6%), back (20/26, 76.9%), and head (13/26, 50%). Toe-finger deformity mainly manifests as symmetrical great toe deformity, or short and deformed thumb and little finger. The diagnosis of FOP requires typical clinical manifestations or ACVR1 gene detection. The main therapeutic drugs for FOP include glucocorticoids and non-steroidal anti-inflammatory drugs. Although not compliant with the recommended medical management of FOP, in our clinical practice children with uncontrollable illness could be treated using a variety of immunosuppressive agents in combination.
Conclusions: FOP is a rare autosomal dominant heritable disease. The main clinical manifestations observed in this study were recurrent inflammatory mass and toe-finger deformity. If the diagnosis and treatment are not performed in a timely manner, serious complications are likely to affect the prognosis. Therefore, early diagnosis and active treatment should be performed.
  [Abstract] [Full Text] [PDF]  
Clinical and laboratory features, treatment, and outcomes of macrophage activation syndrome in 80 children: a multi-center study in China
  Li-Xia Zou, Yun Zhu, Li Sun, Hui-Hui Ma, Si-Rui Yang, Hua-Song Zeng, Ji-Hong Xiao, Hai-Guo Yu, Li Guo, Yi-Ping Xu, Mei-Ping Lu
Background: Macrophage activation syndrome (MAS) is a major cause of morbidity and mortality in pediatric rheumatology. We aimed to further understand the clinical features, treatment, and outcome of MAS in China.
Methods: A multi-center cohort study was performed in seven hospitals in China from 2012 to 2018. Eighty patients with MAS were enrolled, including 53 cases with systemic juvenile idiopathic arthritis (SJIA-MAS), 10 cases of Kawasaki disease (KD-MAS), and 17 cases of connective tissue disease (CTD-MAS). The clinical and laboratory data were collected before (pre-), at onset, and during full-blown stages of MAS. We compared the data among the SJIA-MAS, KD-MAS, and CTD-MAS subjects.
Results: 51.2% of patients developed MAS when the underlying disease was first diagnosed. In patients with SJIA, 22.6% (12/53) were found to have hypotension before the onset of SJIA-MAS. These patients were also found to have significantly increased aspartate aminotransferase (AST) and lactate dehydrogenase (LDH), as well as decreased albumin (P < 0.05), but no difference in alanine aminotransferase, ferritin, and ratio of ferritin/erythrocyte sedimentation rate (ESR) at onset of MAS when compared to pre-MAS stages of the disease. In addition, ferritin and ratio of ferritin/ESR were significantly elevated in patients at full-blown stages of SJIA-MAS compared to pre-MAS stage. Significantly increased ferritin and ratio of ferritin/ESR were also observed in patients with SJIA compared to in KD and CTD. Receiver-operating characteristic analysis
showed that 12,217.5 ¶Őg/L of ferritin and 267.5 of ferritin/ESR ratio had sensitivity (80.0% and 90.5%) and specificity (88.2% and 86.7%), respectively, for predicting full-blown SJIA-MAS. The majority of the patients received corticosteroids (79/80), while biologic agents were used in 12.5% (10/80) of cases. Tocilizumab was the most commonly selected biologic agent. The overall mortality rate was 7.5%.
Conclusions: About half of MAS occurred when the underlying autoimmune diseases (SJIA, KD, and CTD) were first diagnosed. Hypotension could be an important manifestation before MAS diagnosis. Decreased albumin and increased AST, LDH, ferritin, and ratio of ferritin/ESR could predict the onset or full blown of MAS in patient with SJIA.
  [Abstract] [Full Text] [PDF]  
MicroRNA-125b regulates Th17/Treg cell differentiation and is associated with juvenile idiopathic arthritis
  Zhi-Dan Fan, Qian Cao, Na Huang, Le Ma, Hui-Hui Ma, Ya-Yuan Zhang, Hai-Guo Yu, Guo-Ping Zhou
Background: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in childhood driven by aberrant pathways of T-cell activation. T helper 17 (Th17)/regulatory T cell (Treg) imbalance plays critical roles in the pathogenesis of arthritis. MicroRNA-125b (miR-125b) was upregulated after the activation of the initial CD4+ T cells, and could regulate the differentiation of CD4+ T cells. However, the effects of miR-125b on Th17/Treg imbalance and differentiation of Th17/Treg cells remain unknown.
Methods: In this study, we evaluated the expression of miR-125b in the peripheral blood mononuclear cells (PBMCs) of children with JIA, and the relationship of miR-125b with Th17/Treg imbalance. Then, we used lentivirus vector-mediated overexpression technology to investigate the regulatory function of miR-125b in CD4+ T cells or dendritic cell/CD4+ T co-culture system.
Results: Decreased miR-125b expression in PBMCs and CD4+ T cells of JIA patients was negatively correlated with the ratio of Th17/Treg cells. It also correlated negatively with retinoic acid receptor-related orphan receptor ¶√t but positively with Forkhead box protein 3 at transcriptional levels. Furthermore, we found that miR-125b overexpression inhibited Th17 cell differentiation, whereas facilitated the differentiation of Treg cells. MiR-125b upregulation led to the decrease of Th17-secreting cytokines but the increase of the Treg-secreting cytokines.
Conclusions: Our results demonstrate that miR-125b participated in regulating Th17/Treg cell differentiation and imbalance in JIA patients. These findings provide novel insight into the critical role of miR-125b in the Th17/Treg imbalance of JIA, and raise the distinct possibility that miR-125b may prove to be a potential therapeutic target for JIA.
  [Abstract] [Full Text] [PDF]  
World Journal of Pediatric Surgery
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