Rare Turner syndrome and lupus coexistence with insights from DNA methylation patterns.

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.

The HyperPed-COVID international registry: Impact of age of onset, disease presentation and geographical distribution on the final outcome of MIS-C.

OBJECTIVES: The aim of the study was to establish an international multicenter registry to collect data on patients with Multisystem Inflammatory Syndrome in Children (MIS-C), in order to highlight a relationship between clinical presentation, age of onset and geographical distribution on the clinical outcome. STUDY DESIGN: Multicenter retrospective study involving different international societies for rare immunological disorders.1009 patients diagnosed with MIS-C between March and September 2022, from 48 centers and 22 countries were collected. Five age groups (<1, 1-4, 5-11, 12-16, >16 years) and four geographic macro-areas, Western Europe, Central-Eastern Europe, Latin America, Asian-African resource-limited countries (LRC), were identified. RESULTS: Time to referral was significantly higher in LRC. Intensive anti-inflammatory treatment, including biologics, respiratory support and mechanic ventilation were more frequently used in older children and in European countries. The mortality rate was higher in very young children (<1 year), in older patients (>16 years of age) and in LRC. Multivariate analysis identified the residence in LRC, presence of severe cardiac involvement, renal hypertension, lymphopenia and non-use of heparin prophylaxis, as the factors most strongly associated with unfavorable outcomes. CONCLUSIONS: The stratification of patients by age and geographic macro-area provided insights into the clinical presentation, treatment and outcome of MIS-C. The mortality and sequelae rates exhibited a correlation with the age and geographical areas. Patients admitted and treated in LRC displayed more severe outcomes, possibly due to delays in hospital admission and limited access to biologic drugs and to intensive care facilities.

Description of the Characteristics of the Nailfold Capillary Structure in Healthy Children: A Multi-Centric Study.

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.

Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis on anti-interleukin-1 or -6 therapy.

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.

Severe haematological involvement in children with systemic lupus erythematosus and clinical associations.

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.

Cardiac evaluation of patients with juvenile dermatomyositis.

BACKGROUND: The present study aims to evaluate possible cardiac involvement in juvenile dermatomyositis (JDM) patients by conventional methods and cardiac magnetic resonance imaging (MRI) along with a systematic review of the literature on cardiac features in JDM. METHODS: The study group consisted of JDM patients who underwent cardiac MRI. We conducted a systematic review of the published literature involving JDM patients with cardiac involvement. RESULTS: In the present study, although baseline cardiologic evaluations including electrocardiography and echocardiography were within normal limits, we showed late gadolinium enhancement on cardiac MRI in 3 of 11 JDM patients. In the literature review, we identified 25 articles related to cardiac involvement in JDM. However, none of them, except one case report, included cardiac MRI of JDM patients. CONCLUSION: Cardiac abnormalities have been reported among the less frequent findings in patients with JDM. Cardiovascular complications during the long-term disease course are a leading cause of morbidity and mortality in these patients. Early detection of cardiac involvement by cardiac MRI in patients with JDM and aggressive treatment of them may improve the clinical course of these patients. IMPACT: The myocardium in patients with JDM may be involved by inflammation. Myocardial involvement may be evaluated by using contrast-enhanced cardiac MRI. This is the first study evaluating cardiac involvement by cardiac MRI in JDM patients. MRI may show early cardiac involvement in patients whose baseline cardiologic evaluations are within normal limits. Early detection of cardiac involvement by cardiac MRI may improve the long-term prognosis of patients with JDM.

Childhood-onset systemic lupus erythematosus: A descriptive and comparative study of clinical, laboratory, and treatment characteristics in two populations.

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 (∼3:1, 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.

Rhupus syndrome in children: A multi-center retrospective cohort study and literature review.

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.

Exploring factors for predicting colchicine responsiveness in children with PFAPA.

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (PFAPA) are the most common autoinflammatory syndromes in children. This study aimed to evaluate the clinical and laboratory parameters that may predict colchicine responsiveness.This retrospective, multicenter, cross-sectional study involved nine pediatric rheumatology centers from our country., The patients diagnosed with PFAPA were compared on the basis of their responses to colchicine. In the 806 (42.3% female 57.7% male) patients, the most common clinical findings were fever (100%), exudative tonsillitis (86.5%), pharyngitis (80.9%), and aphthous stomatitis (50.5%). The mean attack frequency was 13.5 ± 6.8 attacks per year lasting for a mean of 3.9 ± 1.1 days. Colchicine treatment was attempted in 519 (64.4%) patients, with 419 (80.7%) showing a favorable response. In patients who underwent MEFV gene analysis (70.8%), the most common variant was M694V heterozygous (16.8%). The presence of pharyngitis (p = 0.03, 95% CI 0.885 to 0.994), the presence of arthralgia (p = 0.04, 95% CI 0.169 to 0.958), and having more frequent attacks (p = 0.001, 95% CI 0.028 to 0.748) were found to be associated with colchicine unresponsiveness, whereas the carriage of the M694V variant (p = 0.001, 95% CI 0.065 to 0.242) was associated with colchicine responsiveness. CONCLUSION: This study identified the presence of pharyngitis, arthralgia, and increased attack frequency in patients with PFAPA as factors predicting colchicine unresponsiveness, whereas the carriage of the M694V variant emerged as a predictor of colchicine responsiveness. Predicting colchicine response at disease onset may facilitate a more effective management of PFAPA. WHAT IS KNOWN: • Colchicine treatment can be used in the prophylaxis of PFAPA disease. • Having the MEFV variant is the most commonly known factor in predicting response to colchicine. WHAT IS NEW: • The presence of pharyngitis or arthralgia, and more frequent attacks in PFAPA disease were found to be independently associated with colchicine unresponsiveness. • Carrying the M694V variant was identified as the sole factor predicting colchicine responsiveness.

Evaluation of pediatric rheumatologists' approach to rituximab use: a questionnaire study.

Rituximab (RTX) is a chimeric monoclonal antibody that targets the CD20 antigen on B cells and is used in various autoimmune disorders. In this study, we aimed to measure the awareness of pediatric rheumatologists about the use of RTX through a survey. Between February and March 2023, a 42-question survey was sent via email to pediatric rheumatology specialists in Turkey. The participants were questioned for which diagnoses and system involvement they preferred to use RTX, which routine tests they performed, vaccination policy, and adverse events that occurred during or after infusion. Forty-one pediatric rheumatologists answered the survey. They prescribed RTX most frequently for systemic lupus erythematosus (87.8%) and ANCA-associated vasculitis (9.8%). Prior to the administration of RTX, 95% of clinicians checked renal and liver function tests, as well as immunoglobulin levels. The most frequently tested hepatitis markers before treatment were HBsAg and anti-HBs antibody (97.6%), while 85.4% of rheumatologists checked for anti-HCV. Clinicians (31.4%) reported that they postpone RTX infusion 2 weeks following an inactivated vaccine. Sixty-one percent of rheumatologists reported starting RTX treatment 1 month after live vaccines, while 26.8% waited 6 months. The most frequent adverse events were an allergic reaction during RTX infusion (65.9%), hypogammaglobulinemia (46.3%), and rash (36.6%). In the event of hypogammaglobulinemia after RTX treatment, physicians reported that they frequently (58.5%) continued RTX after intravenous immunoglobulin administration. CONCLUSIONS: RTX has become a common treatment option in pediatric rheumatology in recent years. Treatment management may vary between clinician such as vaccination and routine tests. WHAT IS KNOWN: • During the course of rituximab therapy, clinicians should be attentive to specific considerations in pre-treatment, during administration, and in post-treatment patient monitoring. WHAT IS NEW: • There are differences in practice among clinicians in the management of RTX therapy. These practice disparities have the potential to impact the optimal course of treatment. • This study highlights that standardized guidelines are needed for RTX treatment in pediatric rheumatology, particularly for vaccination policies and routine tests.

The Association of Behçet's Disease on the Quality of Life for Children and Their Parents.

Background and Aim Chronic diseases profoundly impact people's quality of life (QoL). Behçet's Disease (BD) is a multisystemic chronic disease characterized by vasculitis of various vessels. We aimed to assess QoL in pediatric BD patients and their parents. Methods We included pediatric BD patients meeting the pediatric BD classification criteria in a cross-sectional study conducted from June to December 2022. We recorded patients' clinical characteristics and assessed their QoL using PedsQL. Parents' QoL was evaluated using WHOQOL-Bref. Results The study involved 38 patients (60.5% girls, 39.5% boys) with a median age of 15.5 years (10-17) and a disease duration of 2 years (1-4) and their 38 parents. All patients exhibited oral aphthae, and many had other mucocutaneous findings: genital ulcers (78.9%), pseudofolliculitis (76.3%), and erythema nodosum (23.6%). Some patients had uveitis (13.1%), vascular (13.1%), neurological (10.5%), and gastrointestinal (5.2%) involvement. All patients were in remission under treatment during the study. Median PedsQL scores for total, physical health, and psychosocial health were 74.5(40-94.8), 76.5(43-100), and 75(25-92), respectively, with 14 patients scoring below the cut-off value. Girls had lower physical health scores than boys (p=0.004), and a negative correlation emerged between disease duration and PedsQL score (r=0.648, p=0.001). The median WHOQOL score among parents was 50(25-100), with 20 scoring below the cut-off value. Conclusion The QoL was low for one-third of children with pediatric BD and more than half of their parents.Similar to numerous chronic illnesses, factors such as the duration of the disease and gender were associated with the QoL in pediatric BD.

Assessment of hematologic indices for diagnosis in juvenile systemic lupus erythematosus.

Introduction: The aim was to present effective approaches utilizing novel hematological parameters for early diagnosis of juvenile-onset systemic lupus erythematosus (jSLE). Material and methods: Our study at Umraniye Training and Research Hospital involved a jSLE patient cohort from 2016 to 2022 and matched healthy controls aligning with sex and age. We use the Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) for disease activity. Our approach was to analyze leukocyte, neutrophil, lymphocyte, monocyte, and platelet counts, along with ratios such as neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), monocyte-to-lymphocyte ratio (MLR), and monocyte-to-platelet ratio (MPR). We also explored novel indices: the systemic inflammatory index (SII), systemic inflammation response index (SIRI), and aggregate index of systemic inflammation (AISI) to identify relationships between systemic indices and jSLE activity. Results: Upon comparative analysis with the healthy control group, systemic lupus erythematosus (SLE) patients exhibited significantly elevated levels of the hematological parameters NLR, SII, and SIRI (p-values: 0.010, 0.048, 0.025, respectively). Among SLE patients, neutrophil, lymphocyte, and platelet distribution width (PDW) values were notably higher, while hemoglobin, red blood cell distribution width (RDW), and procalcitonin (PCT) values were significantly lower. In comparison, C-reactive protein (CRP) and sedimentation values were markedly elevated in the SLE group in contrast to the healthy control cohort. Patients with significantly elevated disease activity had notably higher values of NLR (p = 0.010) and SII (p = 0.048). Among patients with positive antinuclear antibodies (ANA), elevated levels of NLR, SII, and SIRI were noted (p-values: 0.018, 0.021, 0.035). Conclusions: In this study, the novel hematological markers SII, SIRI, and AISI were found to effectively reflect inflammation in SLE patients, exhibit associations with high disease activity, and demonstrate heightened sensitivity in detecting cases with high disease activity.

Comparison of EULAR/PRINTO/PReS Ankara 2008 and 2022 ACR/EULAR Classification Criteria for Granulomatosis with Polyangiitis in Children.

OBJECTIVE: Granulomatosis with polyangiitis (GPA) is an antineutrophil cytoplasmic antibody-associated vasculitis. The 2022 American College of Rheumatology/European Alliance of Associations for Rheumatology (ACR/EULAR)-endorsed classification criteria for GPA was derived using data only from adult patients. We aimed to assess the performance of the ACR/EULAR classification criteria for GPA in pediatric patients and compare it with the EULAR/Pediatric Rheumatology International Trials Organization (PRINTO)/Pediatric Rheumatology European Society (PReS)-endorsed Ankara 2008 criteria for GPA. METHODS: Retrospective data of pediatric patients with GPA in 20 centers from 9 countries were evaluated. The diagnosis of GPA was made according to the expert opinion. The sensitivity, specificity, positive predictive value, and negative predictive value of the criteria sets were evaluated. RESULTS: The study included 77 patients with GPA and 108 controls (immunoglobulin A vasculitis (n = 44), Takayasu's arteritis (n = 20), microscopic polyangiitis (n = 16), polyarteritis nodosa (n = 14), Behçet's disease (n = 12), eosinophilic granulomatosis with polyangiitis (n = 1), and Cogan's syndrome (n = 1)) with a median age of 17.8 and 15.2 years, respectively. Of patients with GPA, constitutional symptoms (85.7%) and ear-nose-throat involvement (79.2%) were the most common presentations. In the GPA group, 73 patients fulfilled the Ankara 2008 criteria and 69 the ACR/EULAR classification criteria. Sensitivities of the Ankara 2008 criteria and the ACR/EULAR classification criteria were 94.8% and 89.6%, while specificities were 95.3% and 96.3%, respectively. No significant difference was found between sensitivities and specificities of both classification criteria (p= 0.229 and p= 0.733, respectively). CONCLUSION: In children, both the ACR/EULAR and EULAR/PRINTO/PReS Ankara 2008 classification criteria for GPA perform well and similarly.

Clinical characteristics and predictors for recurrence in chronic nonbacterial osteomyelitis: a retrospective multicenter analysis.

Background/aim: Chronic nonbacterial osteomyelitis (CNO) is a rare disease of unknown etiology and most commonly occurs during childhood or adolescence. The purpose of this study is to collect data on the clinical features, outcomes, and management of the disease and to identify the factors affecting recurrence. Materials and methods: This is a retrospective multicenter cross-sectional study of pediatric patients diagnosed with CNO. A total of 87 patients with a diagnosis of CNO followed for at least 6 months in 8 pediatric rheumatology centers across the country between January 2010 and December 2021 were included in this study. Results: The study included 87 patients (38 girls, 49 boys; median age: 12.5 years). The median follow-up time was 20 months (IQR: 8.5-40). The median time of diagnostic delay was 9.9 months (IQR: 3-24). Arthralgia and bone pain were the most common presenting symptoms. Multifocal involvement was detected in 86.2% of the cases and a recurrent course was reported in one-third of those included in the study. The most commonly involved bones were the femur and tibia. Vertebrae and clavicles were affected in 19.5% and 20.6% of cases, respectively. The erythrocyte sedimentation rate (ESR) values of 60.9% of the patients were above 20 mm/h and the C-reactive protein values of 44.8% were above 5 mg/L. The remission rate was 13.3% in patients using nonsteroidal antiinflammatory drugs and 75.0% in those using biological drugs. Vertebral and mandibular involvement and high ESR values at the time of diagnosis were associated with recurrence. Conclusion: In this multicenter study, CNO with vertebral and mandibular involvement and high ESR at diagnosis were associated with recurrence.

Ultrasonographic evaluation of changes in the joint before and after intra-articular injection in children with juvenile idiopathic arthritis.

OBJECTIVE: The aim of this study is to ultrasonographically (US) evaluate the course of the knee joint in oligoarticular juvenile idiopathic arthritis (JIA) patients who received intra-articular steroid (IAS) application to the knee joint. METHODS: 237 knee joints of 175 patients with oligoarticular JIA were evaluated retrospectively. The patients were divided into two groups: those who received only IAS therapy and those who were methotrexate to IAS therapy. Synovial fluid grade changes, synovial proliferation in B mode examination and power Doppler (PD) changes were evaluated with musculoskeletal ultrasonography (MSUS) separately for each joint before the treatment and at the 2nd, 6th and 12th weeks of the treatment. RESULTS: The percentages of regression in synovial fluid grade at the second, sixth, and 12th weeks were respectively 73.4%, 88.6%, and 89.0% (n=174, 210, 211, respectively). Meanwhile, the percentages of regression in PD grade were 69.2%, 82.7%, and 84.0% (n=164, 196, 199, respectively). At the second, sixth and 12th weeks, the percentage of those with synovial fluid grade 0 was 24.1%, 54.9%, 73.4%, respectively (n=57, 130, 174, respectively), while the percentage of those with PD grade 0 was 39.7%, 67.9%, 80.6%, respectively (n=94,161,191, respectively). The percentage of those without synovial proliferation in the second, sixth and 12th weeks was found to be 26.2%, 54.9%, 73.8% respectively (n=62, 130, 175, respectively). The mean time to regression of synovial fluid, synovial proliferation, and PD in the only IAS group was significantly short. The percentage of synovitis regression was higher in the only IAS group at all weeks. This difference was especially more pronounced in the early period. When the 12th-week results were evaluated, there was no difference between the two groups. CONCLUSION: This study highlights the utility of MSUS in evaluating the early results of IAS therapy applied to the knee joint in oligoarticular JIA patients.

Concurrent pyoderma gangrenosum and Takayasu arteritis in an infant: diagnostic challenges and treatment considerations.

BACKGROUND: Takayasu arteritis (TA) is an uncommon chronic inflammatory and autoimmune disease primarily affecting large vessels, particularly the aorta and its branches. Skin manifestations have been documented in association with TA. Pyoderma gangrenosum (PG) is a chronic neutrophilic dermatosis characterized by destructive, necrotizing, and painful ulcers, predominantly found on the lower extremities. The coexistence of PG and TA is extremely rare, with most reported cases involving adult patients. Interestingly, the association between PG and TA appears to be more common in Japan compared to North American and European populations. Childhood TA (c-TA) accompanied by PG is exceptionally rare, with only 10 cases reported in the literature thus far. CASE REPORT: We present the case of a 7-month-old patient initially diagnosed with PG. Despite aggressive immunosuppressive therapy, the patient`s high acute phase reactants remained elevated. Although the abdominal ultrasound was normal, advanced imaging was performed due to severe abdominal pain. Contrastenhanced computerized tomography angiography of the aorta and its branches revealed extensive vascular involvement consistent with TA. CONCLUSION: In this report, we highlight an infantile case of PG that was subsequently diagnosed as infantile TA. Recognizing the rare association between PG and TA is important. Thorough evaluation and prompt diagnosis of TA in infants with PG can guide further investigations and prevent vascular complications.

Ultrasonographic Evaluation of Juvenile Localized Scleroderma: Enhancing Objectivity in Diagnosis and Management.

BACKGROUND: Although clinical assessment has historically been the primary method used for pediatric localized sclerosis (LS) diagnosis and staging, highfrequency ultrasonography (HFUS) is being investigated as a more accurate evaluation method for lesion. OBJECTIVES: This study aimed to assess, compare dermal and subcutaneous tissue characteristics and enhance enhance lesion staging in pediatric LS patients using HFUS. METHODS: Twenty two LS patients were cross-sectionally evaluated with B-mode ultrasonography. Lesions were clinically staged, and dermal and subcutaneous tissue characteristics were compared with healthy tissue using HFUS. RESULTS: Among 55 lesions, 27 were active/new (49.1%), and 28 were atrophic/old (50.9%). Active lesions typically had increased dermal thickness in 66.6% of cases, while atrophic lesions often showed decreased dermal thickness (78.5%), with significant differences (p<0.05). Dermal echogenicity decreased in 40.7% of active lesions but remained largely unchanged in atrophic lesions (82.1%) (p<0.05). Subcutaneous tissue thickness significantly decreased in atrophic lesions (78.5%) and increased in 59.2% of active lesions, with a significant difference (p = 0.002). Subcutaneous tissue echogenicity increased in 44.4% of active lesions and remained mostly unchanged in atrophic lesions (67.8%). Importantly, a considerable proportion of lesions diagnosed as active through physical examination were actually inactive on HFUS evaluation (55.6%), while a significant portion of lesions categorized as atrophic on physical examination displayed areas of inactivity upon ultrasonographic assessment (35.7%). These findings highlight HFUS's potential as a valuable diagnostic tool and reveal discordances between clinical and HFUS staging. CONCLUSION: Ultrasonography offers an objective LS lesion evaluation, especially in pediatrics.

The cultural differences in transition assessment: Evaluation of TRANSITION-Q and STARx scales on Turkish rheumatic patients.

Objectives: This study aimed to assess the readiness of our patient population for the transfer to adult care and the applicability of the TRANSITION-Q and STARx scales to the Turkish adolescent patient population. Patients and methods: A total of 153 patients (92 males, 61 females; mean age: 15.5±1.9 years; range, 12 to 18 years) were included in the study between September 15, 2021, and December 15, 2021. The patients were divided into two groups according to age groups: 12 to 15 years old and 16 to 18 years old. The patients were also divided into four groups according to their diagnosis: connective tissue diseases, juvenile idiopathic arthritis, vasculitis, and autoinflammatory diseases. The TRANSITION-Q and STARx scales were administered face-to-face by a nurse and a doctor. The transition readiness of the patients was evaluated according to their scores. Results: Sixty-nine (45%) patients were in the 12 to 15 age group, and 84 (55%) were in the 16 to 18 age group. Eight-four (54.9%) patients had juvenile idiopathic arthritis, 47 (30.7%) patients had an autoinflammatory disease, 14 (9.2%) patients had vasculitis, and eight (5.2%) patients had a connective tissue disease. There was no significant difference in the scale scores according to disease groups and sexes in both scales. Considering the age of the patients, the mean scores of the patients in the 16 to 18 age group were found to be significantly higher compared to the 12 to 15 age group for both the TRANSITION-Q (74.3±13.3 vs. 65.4±9.6, p<0.001) and STARx scales (51.8±8.1 vs. 44.8±9.1, p<0.001). Cronbach's alpha score was 0.71 for the STARx scale and 0.79 for the TRANSITION-Q scale. Conclusion: TRANSITION-Q and STARx scales could guide the Turkish patient population in determining the pretransition needs of patients in planning individualized transition processes.

Utilization of Whole-Body Magnetic Resonance Imaging in Challenging Diagnoses in Pediatric Rheumatology.

The aim of this study was to investigate the use of whole-body magnetic resonance imaging (WBMRI) in cases where we suspected rheumatic disease in our pediatric rheumatology clinic. We conducted a retrospective analysis of demographic, clinical, laboratory, and imaging data pertaining to pediatric patients who presented at our clinic and underwent WBMRI over the last 5 years. Our investigation targeted children experiencing diffuse musculoskeletal pain, where precise localization was challenging and suspicion of rheumatological pathology persisted despite inconclusive results from conventional diagnostic modalities. A total of 87 patients (33 female) underwent WBMRI at our clinic, with a median age (minimum-maximum) of 11.3 (0.5-18) years. Whole-body magnetic resonance imaging was performed in 4 patients suspected with dermatomyositis (DM) where muscle biopsy was not feasible, revealing muscle involvement and myositis. Additionally, WBMRI was utilized in 4 patients diagnosed with chronic nonbacterial osteomyelitis (CNO) to assess recurrence, identifying new active lesions in 3 patients. Among the remaining 79 patients, 34 received a new diagnosis of CNO. Clinically, supported by additional findings in laboratory and WBMRI, 18 were diagnosed with juvenile idiopathic arthritis (JIA), 5 with protracted febrile myalgia syndrome (PFMS), 5 with acute osteomyelitis, and 1 with viral myositis. The results were normal for 17 patients. Most of the WBMRIs conducted at the clinic under study were primarily performed on patients suspected of having CNO. Additionally, WBMRI was found to be supportive and beneficial in cases of suspected DM, PFMS, and JIA during the diagnosis.

Real-life data of etanercept efficacy and safety in juvenile idiopathic arthritis: a 24-month retrospective study at a single center.

OBJECTIVE: The aim of this study was to assess the efficacy and safety of etanercept (ETA) use in juvenile idiopathic arthritis (JIA). METHODS: The 24-month data of patients with JIA on etanercept in a single center were evaluated retrospectively. Response to treatment was assessed according to 10-joint Juvenile Arthritis Disease Activity Score (JADAS10), and JIA-American College of Rheumatology (ACR) improvement criteria. Safety assessments were based on adverse event (AE) reports. RESULTS: The study included 152 patients with JIA. The mean age at diagnosis of JIA was 8.5 ± 4.4 years, and treatment with ETA started at a mean age of 11.1 ± 4.4 years. The mean duration of ETA use was 16 ± 11.1 months. The mean JADAS10 score at baseline was 18.5 ± 5.9. By the third month, it had reduced to 8.6 ± 6.6 and by the sixth month to 5.7 ± 6. By the twelfth month, the JADAS10 score was 4.9 ± 6.7, and by the twenty-fourth month, it had worsened to 7.3 ± 7.8. ACR50 response was achieved in 79.6% of patients at 3 months, 67.1% at 6 months, 79.3% at twelfth months, 70.7% at the twenty-fourth month. During ETA treatment, 10 patients required hospitalization for serious infections. CONCLUSION: Etanercept is a safe and effective option for patients with JIA. However, variations in response between JIA subtypes highlight the need for individualized treatment strategies.