جستجوی مقالات مرتبط با کلیدواژه "juvenile idiopathic arthritis" در نشریات گروه "پزشکی"

Diagnosing Juvenile Idiopathic Arthritis (JIA) presents challenges due to symptom variations, clinical-radiologic delays, and the absence of definitive diagnostic tools. This study aimed to evaluate the diagnostic capability of radiomic features derived from blood pool phase images obtained through bone scintigraphy in JIA. A cohort of 190 patients was included, utilizing the area between knee growth plates as the region of interest (ROI) for extracting image features. After preprocessing, quantitative features were extracted from original and filtered images. A recursive feature elimination (RFE) algorithm identified significant features, subsequently employed in training a random forest classifier. In the validation phase, our radiomic model, comprising 14 features (4 original and 10 filtered image features), achieved an area under the receiver operating characteristic curve (AUC) of 0.89 (95% CI: 0.88–0.92). This robust performance confirmed the efficacy of radiomics in identifying active knee arthritis using technetium–99m-methyl diphosphonate blood pool images in JIA patients. This study highlights the diagnostic accuracy of radiomics in discerning arthritic joints, suggesting its potential as an alternative to conventional quantification techniques. The robustness of radiomics in diagnosing arthritic joints signifies a promising avenue for future research in JIA diagnosis and treatment.

Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is an inborn error of immunity characterized by a heterogeneous spectrum of manifestations, including enteropathy, immune dysregulation, and autoimmune disorder. Joint involvement has been less frequently reported, and limited data regarding its clinical presentation in LRBA deficiency has been published.

We reported an Iranian girl who was initially presented with recurrent respiratory tract infections and otitis media, later complicated by arthritis, growth failure, and organomegaly. The diagnosis of LRBA deficiency was confirmed by the identification of a novel homozygous missense variant in the LRBA gene (c.7742T>A, p.M2581K). Along with this report, a literature review focused on joint involvement, on 26 patients with LRBA deficiency was performed.

Non-infectious manifestations such as joint involvement have a broad spectrum in LRBA deficiency. For the timely diagnosis and appropriate clinical management, LRBA deficiency should always be kept in mind as a differential diagnosis in patients with joint involvement and clinically typical immune dysregulation.

There is a possible association between celiac disease (CD) and juvenile idiopathic arthritis (JIA). Our aim was to evaluate the serological incidence of CD in patients with JIA. Children under 16 years of age with JIA who did not respond adequately to routine treatment, who referred to the pediatric centers of Tehran University of Medical Sciences (2017–2019), were enrolled in this study. Manifestations of CD were also evaluated. CD-related serological screening tests were measured. Seventy- eight patients were enrolled in the study. Their mean age was 7.9 ± 3.9 (1.6–16) years. Three patients with oligoarticular JIA had Anti-TTG-Ab levels above normal (prevalence = 3.8%). None of them had symptoms of CD. There were no significant statistical differences in terms of growth disorders, sex distribution, and different subtypes of JIA (P value ˃ 0.05) between the groups (sero- positive vs. sero-negative). In one case, CD was confirmed by pathology and the gluten-free diet was recommended. The absence of CD symptoms in patients with JIA does not rule out concomitant CD.

The causal role of Parvovirus B19 (B19V) in Juvenile Idiopathic Arthritis (JIA) is still a matter of debate. In this study, an attempt was made to investigate the frequency of B19V infection and the association between patients’ characteristics and B19V infection in children with JIA.

Synovial fluid samples were obtained from 27 children (13 boys, 14 girls, aged 3-16 years) with JIA and were analyzed by polymerase chain reaction to detect B19V DNA. Age, sex, number of involved joints, time elapsed between beginning of symptoms and arthrocentesis, serum Erythrocyte Sedimentation Rate (ESR) and C-Reactive Protein (CRP) were compared between JIA patients with and without B19V.

Six patients (22.2%) were B19V+. There was no significant association between presence of B19V DNA in synovial fluid and number of joints involved, duration of disease, treatment with Disease-Modifying Anti rheumatic Drugs (DMARD) or glucocorticoid therapy and mean ESR and CRP levels. However, there was a slightly significant relationship between sex and age and detection of B19V DNA in the synovial fluid of JIA patients.

Our study demonstrated a 22% prevalence of B19V infection in JIA patients, and also that there was a significant relationship between sex and age and detection of B19V DNA in the synovial fluid of JIA patients.

The B lymphocyte developmental blocks agammaglobulinemia, leading to peripheral B cell depletion and plasma immunoglobulin reduction. Agammaglobulinemia is a rare yet severe disease since it is presented with recurrent sinopulmonary and skin, central nervous system, bone, and joint infections. The onset of the disease is reported to be at the age of six months. Associations have been reported between arthritis and immunodeficiency disorders, such as agammaglobulinemia and common variable immunodeficiency (CVID). This study aimed to present the case of a 3.5-year-old female with a three-month history of the swelling of the left knee, mimicking oligoarticular juvenile idiopathic arthritis. After the initiation of immunosuppressive treatment, the patient developed large, tender, erythematous lesions on the inguinal region bilaterally, which developed to ecthyma gangrenosum due to Pseudomonas. The patient’s mother also reported recurrent episodes of infections since the patient was a one-year-old infant. Subsequent to the immunological examinations and laboratory tests, the patient was diagnosed with autosomal recessive agammaglobulinemia due to low serum immunoglobulin concentration and the absence of peripheral B cells. Primary immunodeficiency conditions (particularly agammaglobulinemia) and CVID should be considered in children with arthritis and recurrent infections. Moreover, immunological analysis should be performed prior to treatment in these children

Corticosteroids are options for the treatment of juvenile idiopathic arthritis (JIA) although with adverse effects. Adrenal insufficiency (AI) may happen after therapeutic glucocorticoid administration. We designed a study to assess the adrenal insufficiency in children with JIA undergoing treatment with low-dose glucocorticosteroids for at least six months. This cross-sectional study was conducted at Imam Khomeini hospital and Children Medical Center hospital on 36 JIA patients after at least three months of cessation of low-dose, long-term corticosteroid therapy. Data regarding age, sex, age at diagnosis, the subtype of disease, and duration of treatment with corticosteroid were recorded. Fasting cortisol and cortisol after ACTH administration were measured. The AI diagnosis was made if the first level of cortisol was less than 3 µg/dL and the second level was less than 20 µg/dL. The sample included 25 women (69.4%) with an overall mean age of 8.2 ± 3.4 years. The mean age at the time of diagnosis was 6.3 ± 3.2 years. The type of disease was oligoarticular in 32 (88.9%) cases and systemic in four (11.1%). Four cases had AI, all of whom were female with oligo-articular arthritis. In all the four cases, the adrenal function became normal three months after prednisolone cessation. The age at the time of study and the age at the time of disease diagnosis were significantly different between cases with and without AI. Adrenal insufficiency is not prevalent in children with JIA treated with low-dose glucocorticoids for a short time.

Patients with rheumatologic diseases have higher rates of cardiovascular disease. Accelerated atherosclerosis and early coronary artery disease have become important causes of death and hospitalization in those patients which may be attributed to metabolic changes in lipids. We aimed to clarify the cardiovascular risk in children with juvenile idiopathic arthritis (JRA), and systemic lupus erythematosus (SLE), and its relation to lipid profile and disease activity index. In this cross sectional comparative study which was done in Minia Children University Hospital, Egypt, we measured lipid profile (cholesterol, triglycerides, low and high density lipoproteins), erythrocyte sedimentation rate, and C-reactive protein in 15 patients with JRA (group1), and 15 patients with SLE (group 2), and in 30 healthy children as controls (group 3). Results showed that there were no significant differences between group 1 (JRA) patients, and controls in total cholesterol, triglycerides, low and high density lipoproteins, but there were high statistically significant differences between group 2 (SLE) patients, and controls in total cholesterol, triglycerides, low density lipoproteins (p<0.001), and in high density lipoproteins (p<0.008).There were positive significant correlations between disease activity index in JRA patients with total cholesterol (r=0.633, p=0.011), triglycerides (r=0.523, p=0.046), and low density lipoproteins (r=0.548, p=0.034). Also, positive significant correlations between disease activity index in SLE patients with total cholesterol (r=0.579, p=0.024), triglycerides (r=0.559, p=0.030), and low-density lipoprotein (r=0.533, p=0.041). Children with rheumatologic diseases can be at high risk of arthrosclerosis and cardiovascular events due to lipid profile change which may be associated with subclinical arthrosclerosis, so continuous monitoring of lipid profile can decrease mortality and co-morbidity.

Many pediatric rheumatic diseases persist into adulthood, with negative squeal from the disease or its treatment. We aimed to assess health related quality of life in a group of children with rheumatic diseases and its relation to disease activity and functional disability.
Fifty one patients were divided into three groups: Group 1 includes 27 patients diagnosed as juvenile idiopathic arthritis (JIA), Group 2 includes 15 patients diagnosed as juvenile onset systemic lupus erythematosus (SLE) and Group 3 includes nine patients; three diagnosed as Juvenile Dermatomyositis, three diagnosed as Familial Mediterranean Fever and three female’s patients diagnosed as Juvenile Scleroderma. Childhood Health Assessment Questionnaire (CHAQ), Pediatric Quality of Life generic core scale version 4.0, Visual analogue scale for pain and Visual analogue scale (VAS) for global assessment were recorded. The activity index was assessed in each patient according to the nature of the disease.
In JIA patients, the mean PedsQL score was 73.6 15.4, the mean CHAQ score was 0.7 0.7, the mean DAS28 was 3.5 0.9, with a significant negative correlation between PedsQL and CHAQ (p=0.48), VAS pain (p=0.001), and DAS 28 activity index (p=0.017). In SLE patients, the mean PedsQL was 66.4 20.3, mean CHAQ score was 0.7 0.67 and mean SLEDAI-2K was 24.2 14.6 with no significant correlation between functional disability and SLEDAI-2K (p=0.539). PedsQL showed a significant negative correlation with SLEDAI-2k (p=0.001), and positive correlation between CHAQ (p=0.022).
Health related quality of life in patients with juvenile rheumatic diseases is correlated with disease activity and functional disability and should be assessed in regular basis.

Multicentric carpotarsal osteolysis (MCTO), a skeletal dysplasia presents in early childhood mimicking juvenile idiopathic arthritis (JIA). Recognition of this syndrome is essential to avoid unnecessary treatment with immunosuppressive agents because of different course and treatment.
Case Report: A 3-year-old boy presented with swelling and restriction of right wrist joint and left ankle joint. Possibility of Oligoarticular (or pauciarticular) JIA was considered. On evaluation his inflammatory parameters were normal. There was poor response to oral steroids and methotrexate. He was lost to follow up and presented at 9 years of age with varus deformities of hand and feet. Radiographs revealed absent carpal and tarsal bones. Based on clinical and radiological examination- MCTO was diagnosed. Oral alendronate was started and clinical improvement was noted.
Mimickers of JIA like MCTO, Farber’s disease should be actively looked when inflammatory parameters are normal or response to therapy is not appropriate.

In JIA, cell-mediated immune response results in secretion of different inflammatory products from activated lymphocytes, macrophages, fibroblasts and leukocytes in synovial joints. Adenosine deaminase (ADA) regulates this immune system activity by metabolizing adenosine through purine metabolic pathway.
The aim of this study was to compare the level of serum ADA with synovial fluid ADA in JIA patients and to see whether it can be utilized as a marker for the activity of the disease
JIA was diagnosed based on International League of Associations for Rheumatology diagnosis criteria. ADA was measured using special kits.
80% of the patients had oligoarticular and 20% polarticulare JIA. There was a significant relation between erythrocyte sedimentation rate (ESR) and high level of synovial fluid ADA. Synovial ADA level was significantly higher than serum ADA in polyarticular JIA. C-reactive protein (CRP), leukocytes and platelets count were increased in high levels of synovial fluid ADA. No correlation was observed between level of serum and synovial fluid ADA.
Synovial fluid ADA seems a more precise index than serum ADA to assess the inflammatory condition. In addition, acute-phase response reactants such as ESR, CRP, and platelets count could be suitable predicting parameters for arthritis.

Juvenile idiopathic arthritis (JIA) is a clinically heterogeneous cluster of complex diseases, in which both the genetic and environmental factors seem to play a role in the development of the disease. The current study aims to assess the association of programmed cell death 1 (PDCD1, also called PD-1) gene variants with JIA vulnerability in Iranian population. In this case-control association study, we investigated a group of 50 Iranian patients with JIA in comparison with 202 healthy controls and evaluated the frequency of alleles, genotypes, and haplotypes of PDCD1 single-nucleotide polymorphisms (SNPs), comprising PD-1.1 G/A, PD-1.3 G/A and PD-1.9 C/T, using PCR-RFLP method. Both the allelic and genotype frequencies of PD-1.1, PD-1.3 and PD-1.9 were similar in two groups of patients and controls. Moreover, no significant difference was observed between the two groups of patients and controls for GGC (PD-1.1 G, PD-1.3 G, PD-1.9 C), GAC (PD-1.1 G, PD-1.3 A, PD-1.9 C), and AGT (PD-1.1 A, PD-1.3 G, PD-1.9 T) haplotypes. Our results did not show any association between PDCD1 SNPs and the development of JIA in Iranian population.

Macrophage activation syndrome (MAS) is a rare feature of rheumatic disorders in children and adolescence and its presentation as the first symptom of rheumatic disorders is very infrequent.
A 9-year-old girl, in whom MAS developed, was admitted to our Hospital in Tehran, Iran. She suffered from high grade fever and rash followed by multiple joint swelling months afterwards. Bone marrow aspiration and biopsy showed normocellular marrow with a cellularity of 90%. Benign-looking macrophages were remarkably increased; many of them showed hemophagocytic features. According to the presentation of long-standing fever and observation of “hemophagocytic macrophage” in bone marrow, MAS was diagnosed for the patient. Additionally, due to recurrent joint swelling in following months, she was diagnosed to be affected by “Juvenile Idiopathic Arhtritis” complicated by MAS.
MAS is a rare complication of rheumatic disorders which should be considered as the first presentation of rheumatic disorders in children specifically in those presenting with high fever, hepatosplenomegaly, lymphadenopathy and severe cytopenia.

A common type of chronic arthritis in children and adolescents is juvenile idiopathic arthritis (JIA). According to the International League of Associations for Rheumatology (ILAR) classification, JIA diagnostic criteria include age under 16 years and disease duration of six-weeks. Based on the number of involved joints in the first sixmonths of disease onset, JIA is categorized into oligoarticular or polyarticular subtypes. Age is a characteristic factor in the diagnosis of disease subsets; it is worth mentioning that cases younger than six months of age are seldom found in any of the subtypes.
Case report: In this report, we present a rare case of JIA in an infant, presenting at 20 days of age. Effusion of the right hip joint was one of the primary manifestations of the disease. During hospitalization, she went through sepsis workup and a four-week antibiotic therapy for management of lower limb pseudoparalysis. In spite of antibiotic therapy, she developed effusion of a second joint. According to the course and duration of symptoms and ILAR classification for JIA, oligoarticular JIA was diagnosed and treated.
In this case, infectious diseases, such as tuberculosis and brucellosis, and malignancies were ruled out as a cause of inflammation through bone marrow aspiration, culture, and tests; ultrasound and magnetic resonance imaging showed no lytic and sclerotic lesions or a fracture. Our experience showed a rare case of JIA and suggested that JIA must be considered in children with joint inflammation at any age

Various indices have been raised as predictors of activity and severity of juvenile idiopathic arthritis.
This study was conducted to investigate the changes of platelet indices in acute phase and two months after treatment in these patients.
Patients and In a cohort study, platelet count, mean platelet volume (MPV), platelet distribution width (PDW), plateletcrit (PCT) were evaluated in children referred to children’s medical center, Tehran due to juvenile idiopathic arthritis from March 2013 to March 2014 during the acute phase and two months after standard treatment. The statistical data were analyzed by SPSS 19 software, and the significance level was set as P In this study, 55 children (24 boys and 31 girls) with mean ± SD age of 7.50 ± 3.35 years were studied. The mean ± SD value of platelet count was 441872.7 ± 151836.9 in the acute phase and reached 395418.2 ± 119601.6 two months after treatment (P = 0.01). The mean ± SD PCT in the acute phase of various subtypes of the disease was 0.32 ± 0.11, which reached 0.29 ± 0.10 after treatment (P = 0.09). However, the PDW range in different subtypes of the disease reached 13.4 ± 8.0 from 13.9 ± 2.9 and MPV reached 8.7 ± 0.9 from 8.8 ± 1.1 after treatment, but they were not significantly different from the results in the acute phase (P = 0.5).
Platelet count is one of the most remarkable indices in JIA. Evaluation of PCT can also help determine the severity of the inflammatory process in the follow-up and treatment process.

Limited studies have focused on the association between the protein tyrosine phosphates non-receptor type 22 (PTPN22) genetic polymorphisms and Juvenile idiopathic arthritis (JIA) susceptibility in different populations, but the results were inconclusive. Therefore, this meta-analysis of PTPN22 polymorphism (1858 C＞T) was performed to get a precise systematic estimation. The «rs» number of the PTPN22 polymorphism (1858 C＞T) is 4. A systematic literature search strategy was carried out using English databases (PubMed, Embase.) for the eligible studies. We ultimately identified 11 records from 10 articles involving the relationship between PTPN22 genetic polymorphisms and JIA risk from PubMed and Embase databases. Overall, 4552 cases and 10161 controls were investigated in this study to evaluate the association between PTPN22 (C allele vs. T allele) genotype and JIA susceptibility. Analysis using random effects model showed an increased risk of JIA with T allele of rs2476601 vs. A allele (P<0. 001). Subgroup analysis suggested that the PTPN22 polymorphism (1858C＞T) was significantly associated with JIA risk in America population (OR=1. 52, 95%CI: 1. 30-1. 78). Additionally, the subgroup analysis also showed that the associations were still significant in case number more than 500 (OR=1. 38, 95% CI: 1. 04-1. 83), while in the case number less than 500 was OR=1. 55, 95% CI: 1. 39-1. 72. SNPs of PTPN22 (1858C＞T) showed an increased risk of developing JIA.

JIA is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants. Aims and To assess health and functional status of children suffering from juvenile idiopathic arthritis for a period of one year using Childhood Health Assessment Questionnaire and Disease Activity Score. In the present children less than 12 years of age with juvenile idiopathic arthritis attending the Rheumatology OP and general ward of the institute of Child Health were selected. All diagnosed cases of juvenile idiopathic arthritis based on International League of Associations for Rheumatology (ILAR) criteria were enrolled in the study. Children with juvenile idiopathic arthritis associated with other chronic illness excluded. Thus total 54 cases were enrolled in the study. Detail history and findings of clinical examinations were recorded on a prestructured proforma. They were investigated and assessed for functional status based on Childhood Health Assessment Questionnaire and Disease Activity Score. They were followed up for one year and re-assessed for their functional status was done after one year also. The mean age of the study children was 7.83yrs. The proportion of male children was 51.9% and that of female was 48%. It was seen that systemic onset type of arthritis (55.6%) was the most common type. joint pain was the presenting complaint among all the children. Fever was present in 85.2% children. Almost every joint was involved in study population. Knee (88.9%) was the commonest joint involved. 74.6% had wrist involvement. Ankle involvement was found in 70.4% cases. Functional status using health assessment questionnaire in their initial visit and were graded accordingly. The mean score was 1.03. After a period of 1 yr none had severe disability while the mean score was 0.89. Disease activity index was 2.85. After a period of 1 yr it was found to be 2.76. Thus we observed that the mean age of the study children with JIA was 7.83yrs with joint pain and fever as most common presentation. Although all joint were involved, knee joint was the commonest. The childhood health assessment questionnaire for the assessment of the functional status and Disease activity index were simple tools, with good ability to predict disease outcome.

Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. Despite, the main genetic factors that may play a role in SoJIA have not yet been identified. High level of interleukin-1beta in the blood of SoJIA patients has been reported. The production and secretion of IL-1 β is related to pyrin coded by mediterranean fever gene (MEFV gene). Therefore, mutation in MEFV may be associated with SoJIA diseases. This study aimed to identify the association between R202Q mutation in exon 2 of MEFV gene and SoJIA disease. This study was done in 30 SoJIA patients and 30 controls. DNA was extracted from blood cells and analyzed by RFLP-PCR. The PCR product was digested with PvuII and then separated by gel electrophoresis. R202Q mutation was found in 3.3% of control and 43.3% of patient group. Significant statistical differences were observed between cases and controls in the R202Q mutation. The present study showed that the mutation in MEFV gene is a susceptible factor in development of SoJIA disease in Iranian patients.

The purpose of this study was to describe clinical features and serological findings of children with idiopathic arthritis in south-western Iran. This descriptive study included 60 patients with juvenile idiopathic arthritis who were referred to a pediatric rheumatology clinic at a university hospital during 6-month period. Initial manifestations, first laboratory tests and clinical course of patients were reviewed. Sixty children (32 boys and 28 girls) with idiopathic arthritis ranged in age from 1.5 to 16 years. The mean age at the first presentation was 4.92 years (SD= 3.68). Oligoarthritis was the most common subtype in 27 (45%), followed by systemic- onset in 17 (28.3%) and polyarthritis in 16 (26.7%) of patients. The most commonly involved joints were knee 53(88.3%), ankle 28(46.6%) and wrist 27(45%). Uveitis was detected in two patients, and positivity for ANA titer was revealed in one patient. In this study, the pattern of most clinical features in different subtypes of juvenile idiopathic arthritis resembles to other studies. Positive ANA was less; however, the low numbers of Iranian patients with uveitis was noteworthy.