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Systemic lupus erythematosus (SLE or lupus) is a complex autoimmune disease that can affect multiple organs. While the exact disease etiology remains incompletely understood, there is a suggested influence of X-chromosome dosage in the pathogenesis of lupus. Here, we report a rare case of a female patient diagnosed with mosaic Turner syndrome and subsequently presenting with juvenile-onset SLE. DNA methylation patterns were analyzed in this patient and compared with age-matched female SLE controls, revealing higher methylation levels in interferon-regulated genes previously shown to be hypomethylated in SLE. These data provide a potential link between a gene-dose effect from the X-chromosome and the lupus-defining epigenotype. We hypothesize that the attenuated demethylation in interferon-regulated genes might provide a protective effect explaining the rarity of SLE in Turner syndrome.
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Metilación de ADN , Lupus Eritematoso Sistémico , Síndrome de Turner , Femenino , Humanos , Cromosomas Humanos X/genética , Lupus Eritematoso Sistémico/genética , Lupus Eritematoso Sistémico/complicaciones , Síndrome de Turner/genética , Síndrome de Turner/complicaciones , NiñoRESUMEN
OBJECTIVES: We report the safety, tolerability and efficacy of tofacitinib in patients with juvenile idiopathic arthritis (JIA) in an ongoing long-term extension (LTE) study. METHODS: Patients (2-<18 years) with JIA who completed phase 1/3 index studies or discontinued for reasons excluding treatment-related serious adverse events (AEs) entered the LTE study and received tofacitinib 5 mg two times per day or equivalent weight-based doses. Safety outcomes included AEs, serious AEs and AEs of special interest. Efficacy outcomes included improvement since tofacitinib initiation per the JIA-American College of Rheumatology (ACR)70/90 criteria, JIA flare rate and disease activity measured by Juvenile Arthritis Disease Activity Score (JADAS)27, with inactive disease corresponding to JADAS ≤1.0. RESULTS: Of 225 patients with JIA (median (range) duration of treatment, 41.6 (1-103) months), 201 (89.3%) had AEs; 34 (15.1%) had serious AEs. 10 patients developed serious infections; three had herpes zoster. Two patients newly developed uveitis. Among patients with polyarticular course JIA, JIA-ACR70/90 response rates were 60.0% (78 of 130) and 33.6% (47 of 140), respectively, at month 1, and generally improved over time. JIA flare events generally occurred in <5% of patients through to month 48. Observed mean (SE) JADAS27 was 22.0 (0.6) at baseline, 6.2 (0.7) at month 1 and 2.8 (0.5) at month 48, with inactive disease in 28.8% (36 of 125) of patients at month 1 and 46.8% (29 of 82) at month 48. CONCLUSIONS: In this interim analysis of LTE study data in patients with JIA, safety findings were consistent with the known profile of tofacitinib, and efficacy was maintained up to month 48. TRIAL REGISTRATION NUMBER: NCT01500551.
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BACKGROUND: Nailfold videocapillaroscopy (NVC) is the primary diagnostic tool for the assessment of microcirculation in the pediatric population. OBJECTIVE: To define and standardize age-specific normal NVC patterns in healthy children and adolescents. METHODS: A cross-sectional observational multicentric study was conducted in 564 participants aged 5-17 years. Dino-Lite CapillaryScope 200 Pro Model MEDL4N Pro was performed at 200× magnification. Quantitative and qualitative NVC parameters were analyzed separately for each age group and divided into 4 groups based on age categories. RESULTS: Of the 564 healthy participants, 54.9% were female. A total of 1184 images and 3384 capillaries were analysed. Positive correlations were observed between age and capillary density (p < 0.001, R = 0.450, CI95% 0.398-0.503). There was also a positive correlation between age and arterial/venous, loop diameter and capillary length, whereas there was a weak negative correlation between intercapillary distance. However, no correlation was found between age and capillary width. In addition, capillary density was significantly lower in 5-7 age group compared to the other patient groups. Arterial limb diameter was lower in 5-7 age group, while venous limb diameter was significantly wider in 15-17 age group compared to the other patient groups. Dilated capillaries (8.7%), capillary tortuosity (14.4%), crossed capillaries (43.1%), micro-haemorrhages (2.7%), avascular area (4.8%) were present in all age groups. Excellent intra- and interobserver ICC values were obtained for all parameters. CONCLUSION: These findings hold potential significance for future studies, aiding in the analysis and differentiation of children suspected of rheumatological diseases with potential microangiopathy.
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OBJECTIVES: Colchicine forms the mainstay of treatment in FMF. Approximately 5-10% of FMF patients are colchicine resistant and require anti-IL-1 drugs. We aimed to compare the characteristics of colchicine-resistant and colchicine-responsive patients and to develop a score for predicting colchicine resistance at the time of FMF diagnosis. METHODS: FMF patients (0-18 years) enrolled in the Turkish Paediatric Autoinflammatory Diseases (TURPAID) registry were included. The predictive score for colchicine resistance was developed by using univariate/multivariate regression and receiver operating characteristics analyses. RESULTS: A total of 3445 FMF patients [256 (7.4%) colchicine-resistant and 3189 colchicine-responsive) were included (female:male ratio 1.02; median age at diagnosis 67.4 months). Colchicine-resistant patients had longer, more frequent attacks and were younger at symptom onset and diagnosis (P < 0.05). Fever, erysipelas-like erythema, arthralgia, arthritis, myalgia, abdominal pain, diarrhoea, chest pain, comorbidities, parental consanguinity and homozygosity/compound heterozygosity for exon 10 MEFV mutations were significantly more prevalent among colchicine-resistant than colchicine-responsive patients (P < 0.05). Multivariate logistic regression analysis in the training cohort (n = 2684) showed that age at symptom onset, attack frequency, arthritis, chest pain and having two exon 10 mutations were the strongest predictors of colchicine resistance. The score including these items had a sensitivity of 81.3% and a specificity of 49.1%. In the validation cohort (n = 671), its sensitivity was 93.5% and specificity was 53.8%. CONCLUSION: We developed a clinician-friendly and practical predictive score that could help us identify FMF patients with a greater risk of colchicine resistance and tailor disease management individually at the time of diagnosis.
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Artritis , Fiebre Mediterránea Familiar , Humanos , Femenino , Masculino , Niño , Preescolar , Fiebre Mediterránea Familiar/diagnóstico , Fiebre Mediterránea Familiar/tratamiento farmacológico , Fiebre Mediterránea Familiar/genética , Colchicina/uso terapéutico , Dolor en el Pecho , Sistema de Registros , Síndrome , PirinaRESUMEN
OBJECTIVES: To investigate the severe haematological involvement in children with SLE and assess its clinical associations, treatments, outcome and damage accrual. METHODS: The medical charts of children with SLE in whom haematological involvement was observed were reviewed. Severe haematological indices were defined as autoimmune haemolytic anaemia with a haemoglobin concentration < 8 g/dL, thrombocyte count < 30 000/µL, and neutrophil count < 500/µL. RESULTS: Among the 224 patients included, 102 (45.5%) displayed severe indices, predominantly at the initial involvement, and most frequently as severe anaemia in 54 (24.1%) and severe thrombocytopenia in 45 (20.1%). Disease activity did not differ according to the presence of severe disease indices. In addition, the presence of severe indices at initial involvement did not affect the damage accrual. However, a higher rate of damage (51.1% vs. 29.9%, p = 0.002) and steroid-induced damage (28.9% vs. 8.2%, p < 0.001) was evident in patients with flares of the haematological system. Regression analysis revealed that rituximab treatment during the initial episode (OR:4.5, p = 0.006) and the presence of anticardiolipin antibodies (OR:2.3, p = 0.014) significantly increases the odds for haematological system flare. However, severe indices at initial involvement did not increase the odds of a haematological flare. CONCLUSION: Severe haematological indices at onset are common but not related with disease outcomes. Prevention of flares is important to improve outcomes, and a more rigorous maintenance strategy would benefit most to children who display haematological indices refractory to conventional immunosuppressants and those with anti-cardiolipin antibodies.
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OBJECTIVES: The aim of this study is to investigate the effect of anti-interleukin (IL)-1/-6 biologics on systemic juvenile idiopathic arthritis (sJIA)-associated macrophage activation syndrome (MAS). METHODS: Demographic, clinical, and laboratory data of patients followed up with a diagnosis of sJIA-associated MAS assessed from sixteen pediatric rheumatology centers across the country. The clinical and laboratory features of MAS developing while on biological drugs were compared with those without this treatment. RESULTS: One hundred and sixty-two patients were included in the study. 45 of the MAS events were detected under the effect of anti-IL-1/-6 biologics, while the patients experiencing the remaining 155 events have not received biological treatment in the last three months. Platelet count [128 (72-232) vs 199 (130-371) 109/l], ferritin level on admission [1107 (676-2050) vs 2863 (1193-9562) ng/ml], C-reactive protein level [15.4 (2.9-56) vs 90 (32-160) mg/l], erythrocyte sedimentation rate [13 (3-36) vs 43.5 (13-77) mm/h] and fever duration [5 (4-7.5) vs 10 (7-14.3) days] were found lower in the group under the impact of anti-IL-1/-6 biologics. Among patients treated with biologics, 26.6% did not meet the published 2016 MAS classification criteria at presentation. The rates of hepatomegaly and splenomegaly were relatively lower in the canakinumab-treated group when compared with those receiving other biologicals or to patients, not on biologicals. CONCLUSION: Anti-IL-1/-6 therapies can mask the clinical and laboratory features of MAS, and proposed guidelines for MAS classification criteria may not be met.
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OBJECTIVE: This study aimed to provide a comprehensive overview of the clinical features, laboratory and screening results, treatment options, and outcomes of patients with type 1 interferonopathy. Our secondary goal was to identify the predictors of long-term morbidities or fatalities. METHODS: We included children with genetically confirmed type 1 interferonopathies, with a follow-up duration of > 1 year. Data were obtained retrospectively from medical records. RESULTS: Of the 40 eligible patients for the study, 52.5% were female, with a median age of disease onset of 1.5 years (0.1-13.2). They were diagnosed at an average age of 6.8 ± 4.6 years. Aicardi-Goutières Syndrome was the most common diagnosis (n=15; 37.5%). The central nervous system was the most frequently affected system (n=27; 67.5%). Janus kinase inhibitors were administered to 17 (42.5%) patients. Twenty-five patients (62.5%) developed at least one permanent morbidity or died during follow-up; thus, they were included in the poor-outcome group. While younger age at disease onset, intracranial calcification (ICC), and lack of chilblains and elevated acute phase reactants (APRs) were significant in univariate logistic regression analysis, only ICC on MRI at admission (aOR, 19.69; 95% C.I.: 1.08-359.05, p=0.04) was found to be a significant predictor of poor outcomes in multivariate logistic regression analysis. CONCLUSION: For the first time, we evaluated the predictors of poor outcomes in patients with type 1 interferonopathy with a broad spectrum of subtypes. Furthermore, our study's unique patient characteristics can provide valuable insights into these extremely rare conditions.
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OBJECTIVE: The aim of this study was to characterize childhood-onset systemic lupus erythematosus (SLE) in two large cohorts from Turkey and the United States. METHODS: Patients diagnosed with childhood-onset SLE who fulfilled the 1997 American College of Rheumatology classification criteria for SLE from four reference centers in Turkey and the University of Pittsburgh School of Medicine in the United States were included in this study. A comparative analysis was conducted to evaluate the similarities and differences in clinical and laboratory features, damage accrual, and treatment experiences between the two populations. RESULTS: A total of 174 patients with childhood-onset SLE were included in this study (108 patients from Turkey and 66 patients from the United States). The female-to-male ratio was similar between the two cohorts (â¼3:1, p = .73). The median age at diagnosis was 11.67 years (2.19-17.93) in the Turkish cohort and 13.68 years (2.74-17.93) in the U.S. cohort (p < .001). Photosensitivity (45.4% and 21.2%; p = .007) and renal involvement (41.7% and 36.4%; p = .045) were higher in the Turkish cohort. Anti-Ro/SSA (34.8% and 15.7%; p < .001), anti-Sm (59.1% and 19.4%; p < .001), and anti-RNP (47.0% and 14.8%; p < .001) positivity was more frequent in the U.S. cohort. Current use of rituximab (37.9% and 1.9%; p < .001) and belimumab (19.7% and 0%; p < .001) was more prevalent in the U.S. cohort, while the use of cyclophosphamide (often according to the low dose Euro-Lupus protocol) throughout the disease course (24.1% and 4.5%; p < .001) was more frequent in the Turkish cohort. SLICC/ACR Damage Index scores were not different between the two cohorts. CONCLUSION: This study provides detailed clinical and laboratory features of childhood-onset SLE in two independent and geographically divergent cohorts. Our findings suggest an earlier age of disease onset and a higher prevalence of kidney involvement in Turkish patients. Differences in treatment approaches were also noted. However, damage accrual related to SLE does not appear to be different between the two patient populations.
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OBJECTIVE: Increased frequency of autoimmune thyroid disease, particularly Hashimoto's thyroiditis (HT) was reported several studies in the literature, in individuals with childhood-onset systemic lupus erythematosus (cSLE). Our study aimed to investigate the prevalence and contributing factors of thyroid dysfunction and HT among cSLE patients. METHODS: Thyroid function tests were obtained cross-sectionally from cSLE patients. Demographic, clinical, and laboratory characteristics and activity scores were collected from medical records. Patients diagnosed with cSLE were compared to the healthy control group for the frequency of thyroid dysfunction. The Mann-Whitney U, independent samples t test, and the Chi-square or Fisher's exact test were used to compare study groups. A p-value below 0.05 was considered statistically significant. RESULTS: Out of 73 cSLE patients, 14 (19.1%) had subclinical hypothyroidism, 9 (12.3%) had clinical hypothyroidism, 12 (16.4%) were diagnosed with HT, and 12 (16.4%) had a family history of HT. Thyroid USG was performed in 5 euthyroid patients and 1 borderline subclinical hypothyroid patient with positive thyroid autoantibody and reported as diffuse heterogeneous echogenicity enlargement in the thyroid gland. There were no significant differences in clinical and laboratory data or medication used between the groups with and without HT; however, patients with HT had a higher frequency of clinical hypothyroidism and family history of HT. Cumulative prednisolone dose was significantly lower in patients diagnosed with HT. The frequency of HT was considerably higher in patients with cSLE compared to the healthy control group. CONCLUSION: The results demonstrate an increased incidence of HT in cSLE patients, even if they are euthyroid, and recommend that cSLE patients be screened more frequently.
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OBJECTIVE: In this study, we aimed to evaluate the characteristics of pediatric rhupus patients including all the related series in the literature. METHODS: Thirty pediatric patients with rhupus syndrome from 12 different centers in Turkey were included in this study. The literature was also reviewed for pediatric patients with rhupus syndrome. RESULTS: The most prominent phenotype of these 30 patients was juvenile idiopathic arthritis (JIA) (60%) at the disease onset and SLE (73.3%) at the last visit. Major SLE-related organ involvements were skin (80%), hematological system (53.3%), and kidney (23.3%). Arthritis was polyarticular (73.3%), asymmetric (66.7%), and erosive (53.3%) in most patients. Hydroxychloroquine (100%), glucocorticoids (86.7%), and mycophenolate mofetil (46.7%) were mostly used for SLE, while glucocorticoids (76.6%), methotrexate (73.3%), and nonsteroidal anti-inflammatory drugs (NSAIDs) (57.6%) were mainly preferred for JIA. Our literature search revealed 20 pediatric patients with rhupus syndrome (75% were RF positive). The most prominent phenotype was JIA (91.7%) at the disease onset and SLE (63.6%) at the last visit. Major SLE-related organ involvements were skin (66.7%), hematological system (58.3%), and kidney (58.3%). Arthritis was polyarticular (77.8%), asymmetric (63.6%), and erosive (83.3%) in most patients. Glucocorticoid (100%), hydroxychloroquine (76.9%), and azathioprine (46.2%) were mostly used for SLE, while methotrexate (76.9%) and NSAIDs (46.2%) were mainly preferred for the JIA phenotype. CONCLUSION: Our study is the largest cohort in the literature evaluating pediatric rhupus cases. Most of the pediatric patients had polyarticular, asymmetric, and erosive arthritis, as well as organ involvements associated with SLE, including the skin, hematological system, and kidney.
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Artritis Juvenil , Artritis Reumatoide , Lupus Eritematoso Sistémico , Humanos , Niño , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/tratamiento farmacológico , Hidroxicloroquina/uso terapéutico , Estudios Retrospectivos , Metotrexato/uso terapéutico , Artritis Reumatoide/complicaciones , Artritis Juvenil/complicaciones , Artritis Juvenil/tratamiento farmacológico , Glucocorticoides/uso terapéutico , Antiinflamatorios no Esteroideos/uso terapéutico , Estudios Multicéntricos como AsuntoRESUMEN
OBJECTIVES: Biological drugs are one of the most effective treatment methods for systemic juvenile idiopathic arthritis (SJIA) and can significantly prevent morbidity and mortality. This study aimed to evaluate the efficacy and safety of biologics in patients with SJIA and provide real-life data that might help improve the outcomes. METHODS: TURSIS was a retrospective multicentre study carried out in patients with SJIA for whom a biological treatment had been initiated between 1st March 2013 and 30th December 2018. Data include patients' characteristics, laboratory-clinical results, outcomes, and safety-related variables. The 24-month follow-up data of the patients and the efficacy and safety of biological drugs were evaluated. RESULTS: 147 patients were enrolled. The clinical course of the disease was as follows; it was monocyclic in 38.1%, polycyclic in 49%, and persistent in 12.9% of patients. First-choice biologics were interleukin (IL)-1 blockers in the majority of patients (56.5%), followed by the anti-IL-6 (25.2%) and anti-TNF-alpha drugs (18.4%). Anakinra was the most preferred biologic agent in patients with macrophage activation syndrome (MAS), and tocilizumab was used more frequently in patients with persistent type (p=0.000 and p=0.003). The most frequent switch rate was seen in patients receiving anakinra (n=40/68, 58.8%), and it was most frequently switched to canakinumab (n=32/40, 80%). Better physician's global assessment scores were achieved in patients treated with anakinra in Month 3, compared to other treatments (p=0.04). CONCLUSIONS: The results of our study support the efficacy of biological drugs in particular anti-IL-1 and anti-IL-6 drugs, in the treatment of SJIA. These treatments resulted in improvement in activity of disease and provide a considerable decrease in the frequency of MAS.
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Artritis Juvenil , Productos Biológicos , Síndrome de Activación Macrofágica , Humanos , Artritis Juvenil/diagnóstico , Artritis Juvenil/tratamiento farmacológico , Proteína Antagonista del Receptor de Interleucina 1/efectos adversos , Turquía , Inhibidores del Factor de Necrosis Tumoral/uso terapéutico , Interleucina-1 , Productos Biológicos/efectos adversos , Síndrome de Activación Macrofágica/inducido químicamenteRESUMEN
BACKGROUND: Lupus nephritis (LN) is a very severe manifestation of lupus. There is no consensus on which treatment goals should be achieved to protect kidney function in children with LN. METHODS: We retrospectively analyzed trends of commonly used laboratory biomarkers of 428 patients (≤ 18 years old) with biopsy-proven LN class ≥ III. We compared data of patients who developed stable kidney remission from 6 to 24 months with those who did not. RESULTS: Twenty-five percent of patients maintained kidney stable remission while 75% did not. More patients with stable kidney remission showed normal hemoglobin and erythrocyte sedimentation rate from 6 to 24 months compared to the group without stable kidney remission. eGFR ≥ 90 ml/min/1.73m2 at onset predicted the development of stable kidney remission (93.8%) compared to 64.7% in those without stable remission (P < 0.00001). At diagnosis, 5.9% and 20.2% of the patients showed no proteinuria in the group with and without stable kidney remission, respectively (P = 0.0001). dsDNA antibodies decreased from onset of treatment mainly during the first 3 months in all groups, but more than 50% of all patients in both groups never normalized after 6 months. Complement C3 and C4 increased mainly in the first 3 months in all patients without any significant difference. CONCLUSIONS: Normal eGFR and the absence of proteinuria at onset were predictors of stable kidney remission. Significantly more children showed normal levels of Hb and erythrocyte sedimentation rate (ESR) from 6 to 24 months in the group with stable kidney remission.
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Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease characterized by recurring serosal inflammation. Cardiac involvement in FMF commonly manifests as pericarditis and pericardial effusion; however, there is limited research on myocardial function. This study aimed to assess cardiac functions during active inflammation and remission periods of FMF patients and investigate the cardiac effects of inflammation during the attack period. Thirty-eight FMF patients without additional cardiac diseases were included in the study. Demographic characteristics, clinical symptoms, family history, and MEFV gene analysis results were obtained retrospectively. Blood tests, blood pressure measurements, electrocardiogram evaluations, conventional echocardiography, and speckle tracking echocardiography were performed during the attack and remission periods. Disease severity was assessed using the Pras scoring system. During the attack period, FMF patients exhibited significantly higher leukocyte count, neutrophil count, C-reactive protein, and erythrocyte sedimentation rate compared to the remission period (p < 0.005). Speckle tracking echocardiography revealed decreased function in the inferior segments of the left ventricle during the attack period (p < 0.005). Right ventricular function was more affected in the moderate disease group. FMF patients with lymphopenia during the attack demonstrated more impaired right ventricular function compared to those with normal lymphocyte count. Conclusions: FMF patients experience cardiac abnormalities during active inflammation, highlighting the importance of monitoring cardiac functions in these patients. Speckle tracking echocardiography can provide valuable insights into cardiac involvement in FMF. These findings emphasize the cardiac impact of FMF inflammation and the significance of long-term cardiac function monitoring in the management of FMF patients. What is Known: ⢠The current literature lacks studies investigating myocardial function in the pediatric population during the attack period of this particular disease. ⢠Our objective was to assess the alterations in cardiac function during the attack and remission periods, considering clinical manifestations, disease severity, acute phase reactant levels, and mutation type. We also evaluated the pattern of cardiac involvement and the affected cardiac areas by comparing remission and attack periods. What is New: ⢠Several studies have demonstrated a rise in the prevalence of ischemic cardiac disease and mortality among individuals with FMF. ⢠Investigating cardiac involvement during the attack period in FMF patients can provide valuable insights for the prevention of long-term complications.
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Ecocardiografía , Fiebre Mediterránea Familiar , Humanos , Fiebre Mediterránea Familiar/complicaciones , Fiebre Mediterránea Familiar/fisiopatología , Masculino , Femenino , Niño , Estudios Retrospectivos , Adolescente , Preescolar , Enfermedad Aguda , Índice de Severidad de la Enfermedad , ElectrocardiografíaRESUMEN
Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide. In this retrospective cohort study, we aimed to assess the effects of various MEFV genotypes on the clinical characteristics of the patients, with a special focus on the joint involvement. In total, 782 patients with FMF were categorized into 3 groups according to the MEFV mutation; Group 1: Patients homozygous for M694V; Group 2: Patients carrying other pathogenic MEFV variants in exon 10 in homozygous or compound heterozygous states; and Group 3: FMF patients with other variants or without mutations. Clinical and demographic findings were compared between groups. Among the 782 FMF patients, total frequency of arthritis was 237 (30.3%): 207 (26.4%) were acute monoarthritis and 67 (8.5%) were chronic arthritis. Both the frequency of arthritis (acute and/or chronic) (40.4% vs. 24.8% vs. 26.7%; p:0.001) and acute monoarthritis (35.4% vs. 20% vs. 23.7%; p:0.001) were significantly higher in Group 1 than in the other groups. FMF patients with chronic arthritis showed a distinct juvenile idiopathic arthritis (JIA) distribution pattern with a more frequent enthesitis-related arthritis (ERA) subtype (43.2%). HLA-B27 was positive in 24% of the ERA patients.Conclusion: Homozygous M694V mutation is associated with a more frequent and longer acute monoarthritis comparing to other MEFV genotypes. In addition, the risk of chronic arthritis seems not related to the MEFV mutations. However, FMF patients with chronic arthritis show a distinct ILAR JIA distribution pattern with a more frequent ERA and undifferentiated arthritis subtype. What is known: ⢠Homozygous M694V mutation is associated with a more frequent and longer acute monoarthritis What is new: ⢠FMF patients with chronic arthritis show a distinct ILAR JIA distribution pattern with a more frequent ERA subtype ⢠ERA patients with negative HLA-B27 antigen should also be assessed for polyserositis episodes of FMF, especially in countries with high FMF carrier frequency.
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While most countries provide safe and effective influenza vaccines for at-risk groups, influenza vaccine coverage among children with rheumatic diseases remains uncertain. This study investigated influenza vaccination rates in children with juvenile idiopathic arthritis (JIA) during the 2019-2020 season and assessed the knowledge and attitudes of caregivers of children with JIA regarding influenza vaccination. The secondary aims were to identify barriers to vaccination and explore strategies to improve vaccination rates. A multi-centre, cross-sectional anonymous survey was conducted in 7 countries during the 2019-2020 influenza season to assess the uptake history of influenza vaccination. Among 287 participants, only 87 (30%) children with JIA received the influenza vaccine during the 2019-2020 season. Children who were more likely to be vaccinated were those with systemic juvenile idiopathic arthritis (sJIA), a history of previous vaccination and those aware of the vaccination recommendations. Conversely, children who previously experienced adverse vaccine-related events reported the lowest uptake. The primary reason for non-vaccination was lack of awareness about the necessity of influenza vaccination. Conclusion: Despite variations among countries, the uptake of influenza vaccines remains low in children with JIA. Improving awareness among families about the importance of influenza vaccination may increase vaccination rates in children with rheumatic diseases. What is Known: ⢠Rheumatic children are at increased risk for influenza infection due to immunosuppressive therapy and immune dysregulation. ⢠Influenza vaccine is formally recommended to children with rheumatic diseases. What is New: ⢠This multicentre study showed that influenza vaccine uptake rates remain suboptimal among children with Juvenile Idiopathic Arthritis despite formal recommendations. ⢠Factors like previous experience with vaccination and information provided by medical professionals via different ways play essential roles in increasing vaccination rates and can contribute to improved health outcomes for these vulnerable children.
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Artritis Juvenil , Vacunas contra la Influenza , Gripe Humana , Humanos , Estudios Transversales , Vacunas contra la Influenza/administración & dosificación , Masculino , Femenino , Niño , Gripe Humana/prevención & control , Preescolar , Conocimientos, Actitudes y Práctica en Salud , Adolescente , Vacunación/estadística & datos numéricos , Cobertura de Vacunación/estadística & datos numéricosRESUMEN
By improving core strength and stability, children with JIA can experience increased endurance, reduced pain, and improved posture. No study was found that investigated the effectiveness of 3-Dimension (3D) exercises in JIA. This study aimed to compare the effectiveness of structured 3D exercises with that of a conventional exercise program specially planned for children with JIA who have scoliosis. This was a prospective, randomized-controlled study. Structured 3D scoliosis exercises for Group 1 (n: 25) and conventional exercises for the Group 2 (n: 25) were applied for 24 weeks. The angle of trunk rotation (ATR) by scoliometer, scoliosis angle by Cobb angle, pain by a numerical rating scale (NRS), respiratory functions by spirometry, and perception of cosmetic deformity by The Walter Reed visual assessment scale (WRVAS) were evaluated. ATR, Cobb angle, and pain in Group I showed significant improvement compared to Group II. While the sub-parameters of WRVAS and increased significantly in both groups, the improvement in Group I was found to be greater between the groups. While FVC (%) and FEV1 (%) results within the group were significant in both groups. 3D exercises and conventional exercises are an effective and feasible method in the treatment of scoliosis in these children. Despite the curative effect of both methods, 3D exercises have been proven in this study to be more effective on Cobb angle, ATR, WRAS, and respiratory parameters.
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Artritis Juvenil , Escoliosis , Niño , Humanos , Escoliosis/terapia , Estudios Prospectivos , Artritis Juvenil/complicaciones , Artritis Juvenil/terapia , Terapia por Ejercicio/métodos , DolorRESUMEN
Artificial intelligence algorithms, with roots extending into the past but experiencing a resurgence and evolution in recent years due to their superiority over traditional methods and contributions to human capabilities, have begun to make their presence felt in the field of pediatric rheumatology. In the ever-evolving realm of pediatric rheumatology, there have been incremental advancements supported by artificial intelligence in understanding and stratifying diseases, developing biomarkers, refining visual analyses, and facilitating individualized treatment approaches. However, like in many other domains, these strides have yet to gain clinical applicability and validation, and ethical issues remain unresolved. Furthermore, mastering different and novel terminologies appears challenging for clinicians. This review aims to provide a comprehensive overview of the current literature, categorizing algorithms and their applications, thus offering a fresh perspective on the nascent relationship between pediatric rheumatology and artificial intelligence, highlighting both its advancements and constraints.
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OBJECTIVE: Our goal was to use three dimensional (3D) strain analysis to evaluate myocardial function and ascending aorta elasticity changes in juvenile dermatomyositis (JDM). METHODS: Between 2019 and 2021, 23 JDM patients and 20 healthy volunteers participated. Both groups underwent 2D and 3D strain analysis, assessing aortic stiffness using aortic distensibility, stiffness index, strain, and elastic modulus. RESULTS: JDM patients had a median age of 13.3 ± 5.2 years, while controls had a median age of 13.8 ± 4.76 years. 3D strain analysis revealed significantly lower global longitudinal (GLS) and circumferential strain (GCS) in JDM patients compared to controls. Specifically, 3D GLS was notably reduced in patients (-28.1% vs. -31%, p = .047) compared to controls, and 3D GCS was also lower in patients (-27.5% vs. -30.5%, p = .019) compared to controls. Aortic strain and elastic modulus were significantly lower in JDM patients, while aortic stiffness index and distensibility showed no significant differences. Correlation analyses within the JDM group revealed a negative correlation between 3D GLS and age at diagnosis (r = -.561, p = .04), as well as a positive correlation between 3D GLS and both aortic strain (r = .514, p = .0001) and elastic modulus (r = .320, p = .03) in JDM patients. CONCLUSION: Our study demonstrated a trend towards lower ejection fraction and strain in patients with JDM, along with increased aortic stiffness using 3D echocardiography. These findings suggest potential cardiovascular involvement in juvenile dermatomyositis, emphasizing the importance of comprehensive cardiac assessments in these patients.
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Dermatomiositis , Ecocardiografía Tridimensional , Rigidez Vascular , Humanos , Niño , Adolescente , Dermatomiositis/complicaciones , Dermatomiositis/diagnóstico por imagen , Corazón , Ecocardiografía Tridimensional/métodos , Módulo de Elasticidad , Función Ventricular IzquierdaRESUMEN
Early detection of cardiac involvement in Juvenile Dermatomyositis (JDM) is difficult due to the absence of clinical signs and symptoms, with systolic dysfunction often emerging in late stages and associated with a poor prognosis. This study aimed to employ two-dimensional speckle-tracking echocardiography (STE) for subclinical assessment of left ventricular (LV) systolic failure in JDM and explore potential associations between impaired LV systolic function (LV-GLS) and disease activity. A prospective study enrolled 20 healthy volunteers and 26 JDM patients (< 18 years old) without cardiac symptoms. Clinical data were collected from medical records, and echocardiograms were conducted by a pediatric cardiologist. Our study cohort demonstrated similar age to controls (13.5 ± .6 vs. 13.8 ± 4.7; p = 0.465). Median illness duration at echocardiography was 5 (1.5-17.5) years, and conventional echocardiography indicated normal LV ejection fraction (> 55%) in all participants. However, STE revealed lowered LV GLS in JDM patients (- 22.2 ± 4.1% vs. - 26.5 ± 5.3% p = 0.022). Pulse steroid users displayed lower GLS average values compared to non-users (ß = 4.99, 95% CI 1.34-8.64, p = 0.009). Negative correlations existed between LV-GLS and age at diagnosis (r = - 0.499; p = 0.011), diastolic parameters (E/E' ratio) and age at diagnosis (r = - 0.469; p = 0.018), as well as RV global strain and age at diagnosis (r = - 0.443; p = 0.024). Employing STE in JDM patients facilitated the identification of preclinical cardiac dysfunction. Given JDM patients' younger age, early myocardial damage detection through STE may impact treatment decisions and long-term cardiovascular prognosis.
Asunto(s)
Dermatomiositis , Ecocardiografía , Disfunción Ventricular Izquierda , Humanos , Dermatomiositis/complicaciones , Dermatomiositis/diagnóstico por imagen , Dermatomiositis/fisiopatología , Masculino , Femenino , Adolescente , Estudios Prospectivos , Ecocardiografía/métodos , Niño , Disfunción Ventricular Izquierda/diagnóstico por imagen , Disfunción Ventricular Izquierda/etiología , Disfunción Ventricular Izquierda/fisiopatología , Estudios de Casos y Controles , Volumen Sistólico , SístoleRESUMEN
PURPOSE OF REVIEW: We aimed to summarize a novel disease called multisystem inflammatory syndrome in children (MIS-C), which develops several weeks after a severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) illness. RECENT FINDINGS: Given the rarity of the disease, the question of why a minority of children develop MIS-C is not known. Certain intrinsic susceptibility factors in the host have been described. In addition to hyperinflammation induced by the innate and acquired immune cells, evidence of molecular mimicry was presented for the disease pathogenesis. As there is an increasing number of infected individuals and mass vaccination schedules, concerns regarding the usefulness of the existing diagnostic criteria sets raised. SUMMARY: Although children are likely to have a milder COVID-19 course compared with adults, MIS-C as a postinfectious and life-threatening complication was reported in the pediatric age. After 2 years of the disease definition, optimal treatment regimes, effective preventive measures, and long-term outcomes are still debated.