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SAGE Open Medical Case Reports 2024Chronic recurrent multifocal osteomyelitis is a rare auto-inflammatory disease in children, with only a few reports of its association with other inflammatory diseases,...
Chronic recurrent multifocal osteomyelitis is a rare auto-inflammatory disease in children, with only a few reports of its association with other inflammatory diseases, such as systemic juvenile idiopathic arthritis. A 15-year-old boy was admitted due to fever, skin rash, arthritis, and high inflammatory factors and was finally diagnosed with systemic juvenile idiopathic arthritis. After 6 months of recovery from the disease, the patient was referred due to local pain and swelling in the arms and left thigh. In radiography, bone lesions were seen in the shoulders, left humerus, and left femoral diaphysis. A whole-body bone scan showed increased absorption in these areas, which suggested a tumor or osteomyelitis. A biopsy of the bone lesion of the left humerus confirmed sterile osteomyelitis. Although the co-incidence of chronic recurrent multifocal osteomyelitis with systemic juvenile idiopathic arthritis is rare, it should be considered in differential diagnosis.
PubMed: 38835427
DOI: 10.1177/2050313X241257185 -
Pakistan Journal of Medical Sciences 2024JIA is a disease with different immunological characteristics and a complicated genetic foundation. HLA B27 is a risk factor for the development of JIA, and its impact...
BACKGROUND & OBJECTIVES
JIA is a disease with different immunological characteristics and a complicated genetic foundation. HLA B27 is a risk factor for the development of JIA, and its impact on immunopathogenesis of the disease is also an area of interest. To determine whether HLA B27 and immune markers varied between JIA patients and healthy population.
METHODS
This comparative cross-sectional study was conducted at Immunology Department of University of Health sciences (UHS), Lahore from February 2018 till August 2021. A total of (71) JIA patients and (34) healthy controls were enrolled. B cells were enumerated by flowcytometry, ELISA was used for serum cytokines estimation and HLA B27 allele was detected by SPSS polymerase chain reaction.
RESULTS
The HLA B27 allele was significantly more in the control group than in the patient group, suggesting it is a protective allele to prevent JIA. Peripheral blood B cell counts and percentages were significantly lower in the HLA B27 positive group than in the HLA B27 negative group of control population. Serum cytokine levels were not significantly different between the HLA B27 positive and HLA B27 negative allele of the two study populations.
CONCLUSION
In this study B cells are different between the two groups of control population however; serum cytokines are comparable between the study groups. Though, it was indicated that HLA B27 may be a preventive allele in the onset of JIA.
PubMed: 38827853
DOI: 10.12669/pjms.40.5.7915 -
Frontiers in Endocrinology 2024The causal relationship between juvenile idiopathic arthritis (JIA) and primary ovarian failure (POF) remains uncertain. To elucidate this relationship, we employed a...
BACKGROUND
The causal relationship between juvenile idiopathic arthritis (JIA) and primary ovarian failure (POF) remains uncertain. To elucidate this relationship, we employed a two-sample Mendelian randomization analysis.
METHODS
The single nucleotide polymorphisms (SNPs) associated with JIA were obtained from a previously published genome-wide association study (GWAS), while the pooled data for POF originated from the FinnGen consortium. The study populations consisted exclusively of individuals of European descent. In our Mendelian randomization analysis, we performed inverse-variance weighted analysis, weighted-median analysis, weighted-mode analysis and Mendelian randomization-Egger regression analysis, supplemented by sensitivity analyses to validate the accuracy and robustness of the findings.
RESULTS
The IVW (OR = 1.23, 95% CI 1.06-1.43; P = 0.007) and weighted median (OR = 1.25, 95% CI 1.06-1.47; P = 0.009), along with sensitivity analysis validation, provide compelling evidence of a significant causal association between JIA and POF.
CONCLUSION
The study revealed a significant causal association between genetically predicted JIA and POF, indicating that JIA significantly elevates the risk of developing POF. Therefore, it is recommended to implement screening for premature ovarian failure in women diagnosed with JIA.
Topics: Humans; Mendelian Randomization Analysis; Primary Ovarian Insufficiency; Female; Polymorphism, Single Nucleotide; Genome-Wide Association Study; Arthritis, Juvenile; Cohort Studies; Male; Genetic Predisposition to Disease
PubMed: 38818501
DOI: 10.3389/fendo.2024.1340993 -
BMC Pediatrics May 2024Juvenile idiopathic arthritis (JIA), an autoimmune disease affecting children or adolescents and causing joint or systemic symptoms, reportedly has a negative effect on...
BACKGROUND
Juvenile idiopathic arthritis (JIA), an autoimmune disease affecting children or adolescents and causing joint or systemic symptoms, reportedly has a negative effect on the patients' body height. This study aimed to identify factors attributable to substantially reduced adult height (SRAH) in JIA patients.
METHODS
This single-center retrospective cohort study included patients from 2009 to 2019 in Taiwan. We collected JIA patients aged > 18 years at enrollment with a definite diagnosis and undergoing regular outpatient clinic follow-up or disease remission. Target height difference (THD), defined by adult height minus mid-parental height, was calculated for each patient. The calculation results yielded two groups, of which positive THD was defined as the optimal height (OH group) and those with THD below two standardized deviations as the SRAH group. Descriptive statistics and logistic regression analysis were used to analyze the data.
RESULTS
Of 92 JIA patients, 57 and 12 were in the OH and the SRAH groups. Earlier disease onset, especially before the six-year-old, was noted in the SRAH group (p = 0.026). The distribution of JIA subtypes differed significantly between the two groups (p < 0.001); enthesis-related arthritis was the commonest subtype in the OH group, and systemic JIA was the commonest in the SRAH group. Half of the patients in the SRAH group had an active disease status at enrollment, which was higher than the OH group (50.0% vs. 21.1%, p = 0.066). More patients in the SRAH group had received orthopedic surgery due to JIA (25% vs. 3.5%, p = 0.034). Multiple logistic regression analysis showed that SRAH was independently related to systemic JIA (OR = 37.6, 95%CI 1.2-1210.5; p = 0.041).
CONCLUSION
The subtype of systemic JIA, with its characteristics of early disease onset and active disease status, was the essential factor that significantly impacted adult height.
Topics: Humans; Arthritis, Juvenile; Retrospective Studies; Female; Male; Body Height; Adolescent; Child; Taiwan; Growth Disorders; Risk Factors; Adult; Child, Preschool
PubMed: 38816849
DOI: 10.1186/s12887-024-04855-3 -
The Turkish Journal of Pediatrics May 2024Given the strong genetic background of familial Mediterranean fever (FMF), the frequently reported co-existing diseases in children with FMF should also be investigated...
BACKGROUND
Given the strong genetic background of familial Mediterranean fever (FMF), the frequently reported co-existing diseases in children with FMF should also be investigated in other family members. Therefore, we aimed to examine the medical conditions of first-degree relatives (FDRs) of our pediatric patients with FMF in the present study.
METHODS
Chronic diseases of FDRs of pediatric 449 FMF, 147 juvenile idiopathic arthritis (JIA) patients and 93 healthy controls (HC) were questioned during their routine clinical visits for 9 consecutive months.
RESULTS
A total of 1975 FDRs of 449 FMF, 690 FDRs of 147 JIA patients, and 406 FDRs of 93 HC were included into the study. The most common medical conditions were non-atopic asthma (n=71, 3.6%), type 2 DM (n=14, 2%), and tonsillectomy history (n=12, 2.95%) in the FMF, JIA, and HC groups, respectively. Atopic diseases (FMF vs. JIA: p=0.013; FMF vs. HC: p=0.014), rheumatic diseases (FMF vs. JIA: p=0.030; FMF vs. HC: p=0.017), and surgical histories (FMF vs. JIA: p<0.01; FMF vs. HC: p=0.026), including adenoidectomy, tonsillectomy, and appendectomy, were significantly more common in the FMF group than in other groups.
CONCLUSIONS
Our novel findings may contribute to understanding the hereditary burden of co-existing diseases in children with FMF and encourage further studies involving genetic screenings.
Topics: Humans; Familial Mediterranean Fever; Female; Male; Child; Child, Preschool; Arthritis, Juvenile; Adolescent; Turkey; Case-Control Studies; Family; Adult; Asthma
PubMed: 38814299
DOI: 10.24953/turkjpediatr.2024.4589 -
Pediatric Neurology Jul 2024This study evaluated the efficacy and safety of eculizumab, a terminal complement C5 inhibitor, in juvenile generalized myasthenia gravis (gMG).
BACKGROUND
This study evaluated the efficacy and safety of eculizumab, a terminal complement C5 inhibitor, in juvenile generalized myasthenia gravis (gMG).
METHODS
Adolescents aged 12 to 17 years with refractory anti-acetylcholine receptor (AChR) antibody-positive gMG received eculizumab (weekly induction [one to two doses of 600 mg or four doses of 900 mg] followed by maintenance doses [300 to 1200 mg] every two weeks for up to 26 weeks) in a phase 3, open-label multicenter study (NCT03759366). Change from baseline to week 26 in Quantitative Myasthenia Gravis (QMG) total score (primary end point) and secondary end points including Myasthenia Gravis-Activities of Daily Living (MG-ADL) total score, Myasthenia Gravis Composite score, Myasthenia Gravis Foundation of America postintervention status, EuroQol 5-Dimensions (Youth) and Neurological Quality-of-Life Pediatric Fatigue questionnaire scores, as well as pharmacokinetics, pharmacodynamics, and safety, were recorded.
RESULTS
Eleven adolescents (mean ± S.D. age 14.8 ± 1.8 years) were enrolled; 10 completed the primary evaluation period. Least-squares mean changes from baseline at week 26 were -5.8 (standard error [SE] 1.2; P = 0.0004) for QMG total score and -2.3 (SE 0.6; P = 0.0017) for MG-ADL total score. Overall, the primary and all secondary efficacy end point analyses met statistical significance from the first assessment and were sustained throughout. Complete terminal complement inhibition was sustained through 26 weeks in all patients. Treatment-emergent adverse events were all mild/moderate and predominantly unrelated to eculizumab.
CONCLUSIONS
Eculizumab was effective in reducing disease burden and was well tolerated in adolescents with refractory AChR antibody-positive gMG.
Topics: Humans; Adolescent; Antibodies, Monoclonal, Humanized; Myasthenia Gravis; Male; Female; Child; Complement Inactivating Agents; Treatment Outcome; Quality of Life; Outcome Assessment, Health Care
PubMed: 38810600
DOI: 10.1016/j.pediatrneurol.2024.04.020 -
Cureus Apr 2024The aim of this study was to explore the patterns of pediatric uveitis and the types of ocular complications of uveitis and to determine the possible risk factors...
AIM
The aim of this study was to explore the patterns of pediatric uveitis and the types of ocular complications of uveitis and to determine the possible risk factors associated with visual impairment.
METHOD
This was a cross-sectional study conducted at Queen Rania Children's Hospital between June 2020 and June 2023. All children diagnosed with uveitis were enrolled in the study. After collecting data from the patients and reviewing their medical records regarding age, gender, and past ocular and medical history, the patients were subjected to a detailed ophthalmic exam including best-corrected visual acuity (BCVA). Anterior segment exam using the slit lamp, intraocular pressure exam using Goldmann applanation tonometry, and posterior segment exam using 78 and 90 diopter Volk lenses were performed. Patients with other ocular diseases that affected visions not related to uveitis were excluded from the study.
RESULTS
A total of 82 children, accounting for 130 eyes, were enrolled in this study, with ages ranging from 2 to 16 years (mean age 10.5±4.3 years). Among them, 27 were males, constituting 32.9% of the participants. Unilateral uveitis was observed in 34 eyes, representing 26.2% of cases. The mean age of uveitis onset was 6.9±1.9 years, and the mean disease duration was 4.8±0.4 years. The majority of cases i.e. 90.8% (n = 74) were non-infectious, with 92.3% (n = 76) classified as non-granulomatous and 79.2% (n = 65) categorized as chronic. Anterior uveitis was the most prevalent site of inflammation in 70.8% of cases (n = 58), followed by panuveitis in 20.0% of cases (n = 16), intermediate uveitis in 6.2% of cases (n = 5), and posterior uveitis in 3.0% of cases (n = 2). The cause of uveitis could not be identified in 40.0% (n = 33) of cases. Juvenile idiopathic uveitis emerged as the most commonly known disorder associated with uveitis in 40.0% (n = 33) of cases. Complications were identified in 52.3% (n = 43) of cases, with posterior synechiae being the most prevalent; 26.9% (n = 22) demonstrated an improvement in BCVA, while 21.5% (n = 18) experienced a decline in BCVA relative to the initial assessment Conclusion: Pediatric uveitis tends to manifest as anterior, chronic, bilateral, and non-granulomatous. Higher frequencies of severe visual impairment are linked to panuveitis, infectious and granulomatous uveitis, early-onset, long-duration cases, and male gender. The use of biologics has a positive effect, significantly improving or preserving visual acuity.
PubMed: 38803751
DOI: 10.7759/cureus.59136 -
Cureus Apr 2024Pediatric uveitis is a rare but sight-threatening condition. Prompt and adequate treatment is crucial to preserve vision and avoid long-term complications. In cases...
OBJECTIVES
Pediatric uveitis is a rare but sight-threatening condition. Prompt and adequate treatment is crucial to preserve vision and avoid long-term complications. In cases that are resistant to corticosteroids and disease-modifying anti-rheumatic drugs (DMARDs), anti-tumor necrosis (anti-TNF) biologic agents are usually added. In this study, we report our experience with adalimumab (ADA) anti-TNF use in this group of patients.
METHODS
This is a retrospective observational study conducted in a tertiary pediatric uveitis clinic, in Manchester Royal Eye Hospital. All patients were pediatric patients (aged 2-18 years old) under follow-up during the period of six months. The patients' data were analyzed according to the diagnosis, age of onset of uveitis, systemic medications used before and concomitantly with ADA, duration of uveitis before starting ADA, its effect, and time to notice the therapeutic effect in controlling inflammation. Finally, cases were reviewed for the development of anti-drug antibodies.
RESULTS
Forty-two patients were included in the study. Idiopathic uveitis was diagnosed in 47.6% of patients and 40.5% of patients were associated with juvenile idiopathic arthritis (JIA). Most (97.6%) of patients were using topical steroids before starting ADA and 95.2% continued using steroids after established ADA use, but systemic steroid use was reduced from 33.3% to 14.3%. The most common non-biologic DMARD used before ADA was methotrexate (MTX) (90.5%). One-third of the patients started ADA between 6 and 12 months after the diagnosis of uveitis, while this percentage dropped to 9.5% the year after diagnosis. Seventy-eight percent of patients acquired complete clinical control of inflammation on ADA use. Almost 78.6% of patients showed a full response in less than six months. In eight patients who were not controlled or were transiently controlled on ADA, three patients had positive anti-drug antibodies. In one patient, antidrug antibodies were identified after 12 years of ADA use, and in another, after 4 years.
CONCLUSION
Adalimumab is an effective, well-tolerated drug in children with uveitis refractory to non-biologic DMARD therapy. DMARDs were usually used alongside ADA in this cohort and few patients had confirmed ADA antibodies.
PubMed: 38800327
DOI: 10.7759/cureus.59019 -
Journal of Autoimmunity May 2024- Janus Kinase inhibitors (JAKi) are a new class of drugs available for pediatric rheumatic diseases. This study aimed to describe the safety and effectiveness of JAKi...
OBJECTIVES
- Janus Kinase inhibitors (JAKi) are a new class of drugs available for pediatric rheumatic diseases. This study aimed to describe the safety and effectiveness of JAKi in these diseases, with a focus on longitudinal interferon-stimulated genes (ISG) assessment.
METHODS
- We present a single-center retrospective study of children with refractory pediatric rheumatic diseases including connective tissue diseases, monogenic type I interferonopathies or juvenile idiopathic arthritis, receiving JAKi. According to physicians' assessment, treatment effectiveness was classified at 12 months as a complete response in the total absence of disease activity, partial response in case of significant (>50%) but incomplete improvement or no response in the case of non-response or improvement of less than 50% of the clinical and biological parameters. ISG were monitored longitudinally using Nanostring technology.
RESULTS
- 22 children were retrospectively included in this study, treated either by baricitinib or ruxolitinib. Complete response was achieved at 12 months in 9/22 (41%) patients. 6/22 (27%) patients were non-responders and treatment had been discontinued in five of them. Within the interferon (IFN)-related diseases group, ISG-score was significantly reduced 12 months after JAKi onset (p = 0.0068). At 12 months, daily glucocorticoid doses had been reduced with a median dose of 0.16 mg/kg/day (IQR 0.11; 0.33) (p = 0.0425). 7/22 (32%) patients had experienced side effects, infections being the most common. Increase of the body mass index was also recorded in children in the first 6 months of treatment.
CONCLUSION
- JAKi represent a promising treatment of immune-mediated pediatric diseases, enabling to decrease type-I IFN transcriptomic signature in responding patients, especially in the context of juvenile dermatomyositis. JAKi represent steroid-sparing drugs but they induce metabolic changes linked to weight gain, posing a concern in the treatment of young patients and teenagers. More data are required to define the efficacy and safety of JAKi in the management of refractory pediatric rheumatic diseases.
PubMed: 38797048
DOI: 10.1016/j.jaut.2024.103248 -
Children (Basel, Switzerland) May 2024The diagnosis of juvenile idiopathic arthritis (JIA) is often entrusted to the pediatric rheumatologist specialist. Timely referral to a specialized center is crucial....
The diagnosis of juvenile idiopathic arthritis (JIA) is often entrusted to the pediatric rheumatologist specialist. Timely referral to a specialized center is crucial. This study aims to assess the consultation and investigation patterns of patients with joint complaints before rheumatology referral. This longitudinal cohort study included patients with joint complaints who were referred to the Pediatric Rheumatology Unit. The cohort included 301 patients (58% female), 50 of them (17%) diagnosed with JIA. Compared to patients with orthopedic conditions or functional diseases, JIA patients had seen more specialists ( < 0.01) and received a quicker diagnosis ( < 0.01). Patients with early JIA diagnosis (within 3 months from symptoms onset) were younger (8.46 vs. 11.5 years old; = 0.04), more frequently female (78% vs. 47%, = 0.03), and with higher erythrocyte sedimentation rate (ESR) values (37 vs. 9 mm/h; = 0.02) than those diagnosed later. Patients with a late diagnosis of JIA had a significantly longer median time between the first healthcare visit and the PR referral (25 vs. 101 days; < 0.01). The main contributor to diagnostic delay in JIA was the time required for PR referral after the first healthcare consult. Younger age, female sex, and higher ESR values were associated with earlier diagnosis of JIA.
PubMed: 38790595
DOI: 10.3390/children11050600