Search

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 paediatric rheumatology centres 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. Forty-five 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. [ABSTRACT FROM AUTHOR]

Objective: 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. Materials and Methods: 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. Results: 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. Conclusion: 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. [ABSTRACT FROM AUTHOR]

Objectives: To develop a novel scoring system to predict colchicine resistance in Familial Mediterranean fever (FMF) based on the initial features of the patients. Methods: The medical records of patients were analyzed prior to the initiation of colchicine. After generating a predictive score in the initial cohort, it was applied to an independent cohort for external validation of effectiveness and reliability. Results: Among 1418 patients with FMF, 56 (3.9%) were colchicine resistant (cr) and 1312 (96.1%) were colchicine responsive. Recurrent arthritis (4 points), protracted febrile myalgia (8 points), erysipelas-like erythema (2 points), exertional leg pain (2 points), and carrying M694V homozygous mutation (4 points) were determined as the parameters for predicting cr-FMF in the logistic regression model. The cut-off value of 9 was 87% sensitive and 82% specific to foresee the risk of cr-FMF in the receiver operating characteristic. Validation of the scoring system with an independent group (cr-FMF = 107, colchicine responsive = 1935) revealed that the cut-off value was 82% sensitive and 79% specific to identify the risk of cr-FMF. Conclusions: By constructing this reliable and predictor tool, we enunciate that predicting cr-FMF at the initiation of the disease and interfering timely before the emergence of complications will be possible. [ABSTRACT FROM AUTHOR]

The article describes the case of a 19-year-old female patient who was initially assessed at 16 years of age with complaint of recurrent fever episodes for six months. Topics discussed include differential diagnosis, a timeline showing the patient's clinical findings from admission and treatment over time, and observation of haemophagocytosis in the bone marrow aspiration.

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. [ABSTRACT FROM AUTHOR]

Copyright of Ümraniye Pediatri Dergisi is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Ümraniye Pediatri Dergisi is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Ümraniye Pediatri Dergisi is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Medical Journal of Bakirkoy is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Takayasu's arteritis (TA) is a rare chronic granulomatous vasculitis characterized by large-vessel involvement. The aorta and its main branches are most commonly involved. Although pulmonary artery involvement is common, hemoptysis or respiratory findings are rarely seen. Herein, we present a case of TA who developed anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis with diffuse alveolar hemorrhage after coronavirus disease 2019 (COVID-19) infection. A 17-year-old female patient with the diagnosis of TA presented with cough, bloody vomiting, and diarrhea. In follow-up, she developed tachypnea and dyspnea and was transferred to the pediatric intensive care unit. The findings on the chest computed tomography were compatible with acute COVID-19 infection, but the SARS-CoV2 reverse transcription-polymerase chain reaction test was negative, but SARS-CoV2 immunoglobulin (Ig) G and IgM antibody tests were positive. The patient was not vaccinated against COVID-19. The bronchoscopy showed bronchial mucosal fragility, bleeding foci, and mucosal bleeding. The broncoalveolar lavage hemosiderin-laden macrophages were seen in the histopathologic examination. The indirect immunofluorescence assay-ANCA test became 3 (+) with myeloperoxidase (MPO)-ANCA of 125 RU/ml (normal: <20). Cyclophosphamide and pulse steroid treatment were started. After immunosuppressive therapy, the patient condition improved and did not have hemoptysis again. The successful response was obtained by applying balloon angioplasty to the patient with bilateral renal artery stenosis. Types of post-COVID vasculitis include thromboembolic events, cutaneous vasculitis, Kawasaki-like vasculitis, myopericarditis, and ANCAassociated vasculitis. It is thought that COVID-19 may impair immune tolerance and trigger autoimmunity with cross-reaction. To the best of our knowledge, the third pediatric case was reported with MPO-ANCA-positive COVID-associated ANCA vasculitis. [ABSTRACT FROM AUTHOR]

OBJECTIVE: This study aimed to look for the initial manifestations of juvenile dermatomyositis (JDM), give follow-up results, and search for risk factors for the development of calcinosis. METHODS: The files of children with JDM diagnosed between 2005 and 2020 were reviewed retrospectively. RESULTS: The study included 48 children, 33 girls and 15 boys. The mean age at the onset of the disease was 7.6±3.6 years. The median duration of follow-up was 35 (6-144) months. Twenty-nine patients (60.4%) had monocyclic, 7 (14.6%) patients had polycyclic, and 12 (25%) patients had chronic persistent disease course. At the time of enrollment, 35 (72.9%) patients were in remission, while 13 (27.1%) patients had active disease. Calcinosis developed in 11 patients (22.9%). Children having myalgia, livedo racemosa, skin hypopigmentation, lower alanine aminotransferase (ALT) levels, and higher physician visual analog scores at the time of diagnosis had a higher risk for calcinosis. Calcinosis was also more common in children with diagnostic delay and chronic persistent disease course. None of these parameters remained independent risk factors for calcinosis in multivariate logistic regression analysis. CONCLUSION: The rate of mortality has decreased dramatically over decades in JDM, but the rate of calcinosis has not changed proportionately. Long duration of active, untreated disease is accepted as the main risk factor for calcinosis. We have seen that calcinosis was more common in children having myalgia, livedo racemosa, skin hypopigmentation, lower ALT levels, and higher physician visual analog scores at the time of diagnosis. [ABSTRACT FROM AUTHOR]

Chronic recurrent multifocal osteomyelitis (CRMO) is not a well known disorder among nonpediatricians. The aim of this study is to retrospectively evaluate the clinical outcomes of twenty-two CRMO patients presenting to two referral centres. This retrospective study included twenty-two children (12 males, 10 females; mean age 13 years; range 7–17 years). The diagnosis was based on clinical, radiological, and pathological findings. Data were retrieved from hospital charts. The mean delay in diagnosis was 26 months (range, 0–96 months). The mean follow-up after diagnosis was 27.4 months (range, 6–47 months). Symptoms included pain, limping, local swelling, morning stiffness, and fever. 18 patients had multifocal and 4 patients had unifocal disease. Bone lesions were detected with whole-body or local MRI (Magnetic Resonance Imaging). The mean number of bone lesions was 2.5 (range, 1–8). Ten cases underwent biopsy to exclude malignancy and infection. Prior to diagnosis, cast immobilization or curettage was erroneously performed in four patients. One patient suffered from vertebral compression fracture. There is no growth disturbance or deformity in any patient. This study demonstrated that early recognition of the disease can be improved by using Bristol criteria which should be evaluated by a multidisciplinary team rather than one single specialist. In this way, the reliability of these criteria is improved and the treatment could be given earlier with decreased delay in diagnosis. This multidisciplinary approach is also important for decision for biopsy, timely aggressive medical treatment, and follow-up of the disease to minimise possible complications. [ABSTRACT FROM AUTHOR]

Background: The aim of this study was to evaluate the outcomes of patients with the multisystem inflammatory syndrome in children (MIS-C) according to phenotypes of disease and define the prognostic factors for the severe course. Methods: This cross-sectional study included 293 patients with MIS-C from seven pediatric rheumatology centers. A two-step cluster analysis was performed to define the spectrum of disease and their outcomes were compared between each group. Results: Four subgroups were identified as follows: cluster I, predominantly Kawasaki-like features (n = 100); cluster II, predominantly MAS-like features (n = 34); cluster III, predominantly LV dysfunction (n = 47); cluster IV, other presentations (n = 112). The duration of fever was longer in cluster II and the length of hospitalization was longer in both clusters II and III. Laboratory findings revealed lower lymphocyte and platelet counts and higher acute phase reactants (APRs) in cluster II, while patients in cluster IV showed less inflammation with lower APRs. The resolution of abnormal laboratory findings was longer in clusters II and III, while it was shortest in cluster IV. Seven patients died. Among them, four belonged to cluster II, while three were labeled as cluster III. Patients with severe course had higher levels of neutrophil–lymphocyte ratio, mean platelet volume, procalcitonin, ferritin, interleukin-6, fibrinogen, D-Dimer, BNP, and troponin-I, and lower levels of lymphocyte and platelet counts. Conclusion: As shown, MIS-C is not a single disease presenting with various clinical features and outcomes. Understanding the disease spectrum will provide individualized management. [ABSTRACT FROM AUTHOR]

Multisystem inflammatory syndrome in children (MIS-C) is a rare but severe condition resulting in excessive response of the immune system after SARS-CoV-2 infection. We report a single-center cohort of children with MIS-C, describing the spectrum of presentation, therapies, clinical course, and short-term outcomes. This is a prospective observational study from to a tertiary pediatric rheumatology center including patients (aged 1 month to 21 years) diagnosed with MIS-C between April 2020-April 2021. Demographic, clinical, laboratory results and follow-up data were collected through the electronic patient record system and analyzed. A total of 67 patients with MIS-C were included in the study. Fever was detected in all patients; gastrointestinal system symptoms were found in 67.2% of the patients, rash in 38.8%, conjunctivitis in 31.3%, hypotension in 26.9% myocarditis, and/or pericarditis in 22.4%, respectively. Respiratory symptoms were only in five patients (7.5%). Kawasaki Disease like presentation was found 37.3% of the patients. The mean duration of hospitalization was 11.8 7.07 days. Fifty-seven patients (85%) received intravenous immunoglobulin (IVIG), 45 (67%) received corticosteroids, 17 (25.3%) received anakinra, and one (1.5%) received tocilizumab. Seven of the patients (10.4%) underwent therapeutic plasma exchange (TPE). In 21 (31.3%) patients, a pediatric intensive care unit (PICU) was required in a median of 2 days. The first finding to improve was fever, while the first parameter to decrease was ferritin (median 6.5 days (IQR, 4–11.2 days)). Sixty-five patients were discharged home with a median duration of hospital stay of 10 days (IQR, 7–15 days). Patients with MIS-C may have severe cardiac findings and intensive care requirements in admission and hospital follow-up. The vast majority of these findings improve with effective treatment without any sequelae until discharge and in a short time in follow-up. Although the pathogenesis and treatment plan of the disease are partially elucidated, follow-up studies are needed in terms of long-term prognosis and relapse probabilities. [ABSTRACT FROM AUTHOR]

The article describes the case of a six-year-old female patient who had non-consanguineous healthy parents and diagnosed as having multisystem inflammatory syndrome in children (MIS-C). Topics discussed include information on macrophage activation syndrome (MAS), the patient's diagnosis with tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) and treatment with anakinra without attacks, and cytokines associated with MAS.

Amaç: Makrofaj aktivasyon sendromu (MAS), multi-organ yetmezliği ile karakterize, hayati tehdit oluşturabilen bir sitokin fırtınası durumudur. T lenfositlerinin, makrofajların ve hemofagositik histiyositlerin uyarılması sonucu açığa çıkan interferon-γ, IL-1,IL-6, IL-18 ve TNF-α bu sitokin fırtınasından sorumludur. Bütün romatizmal hastalıklarda görülebildiği gibi en sık sistemik juvenil idiopatik artrit (sJIA) seyrinde görülür. Bu olgu sunumunda tedaviye dirençli tekrarlayan MAS atakları olan bir olgu sunulacaktır. Olgu: On dokuz yaşında kız hasta, 16 yaşındayken bir aydır olan ürtikeryal döküntü ve eklem ağrısı yakınmaları ile başvurdu. Anamnezinde tekrarlayan ateş ataklarının olduğu, ataklarda döküntü, el ve ayaklarda şişlik yakınmasının da eşlik ettiği öğrenildi. Atak sırasında akut faz yanıtlarının da yüksek olması nedeni ile hastada CAPS düşünülerek ateşli hastalık paneli istendi. Sonucunda NLRP3 geninde Q705K heterozigot varyant saptandı ve hastaya CAPS tanısı konuldu. Kolşisin tedavisi başlandı. Ataklarının devam etmesi nedeni ile de 3 ay sonra kanakinumab tedavisine geçildi. Yaklaşık 9 ay sonra COVID enfeksiyonu geçiren hastada, sonrasında sitokin fırtınası durumu gözlendi. Hastaya IVIG uygulandı, pulse metilprednizolon ve anakinra başlandı. On gün sonra hasta taburcu edildi. Hasta sonraki takiplerinde toplam 9 kez MAS atağı geçirdi. Atakları genellikle viral enfeksiyonlar ve soğukla tetikleniyor, halsizlik, üşüme-titreme, eklem ağrısı yakınmaları eşlik ediyordu. Atak zamanı bakılan CRP: 170-240 mg/L, sedimentasyon: 20-40 mm/h, serum amiloid a: 20-80 mg/dL, trigliserid: 170-300, ferritin: 4000-7000 arasında, fibrinojen: 200-300, AST: 100-200 arasında seyretmekteydi. Haziran 2021'de yapılan kemik iliği aspirasyonunda hemofagositoz izlendi. Atak dönemlerinde IVIG, pulse steroid, anakinra ve siklosporin tedavileri uygulandı. Primer HLH açısından gönderilen syntaxin, perforin ve STXBP2 genlerinde mutasyon saptanmadı. UNC13D geninde benign olarak sınıflandırılan c.2599A>G heterozigot varyant saptandı. NLRC4 geninde mutasyon saptanmadı. İmmünyetmezlik açısından yapılan immünoglobulinler, lenfosit alt grubu ve immünofenotipleme tetkiklerinde patolojiye rastlanmadı. İmmünodisregülasyon genetik analizinde anlamlı bir mutasyona rastlanmadı. Haziran ayında bakılan sitokin profilinde IL-1,IL-6 ve IL-18 düzeylerinde yükseklik saptandı. Kanakinumab 300 mg ile tedaviye devam edildi. Sonuç: Tekrarlayan MAS atakları ile gelen bu hastada ayrıntılı genetik analizde etken saptanamamış olup tedavisi ve izlemi tartışılacaktır. [ABSTRACT FROM AUTHOR]

Amaç: Takayasu arteriti aorta ana dallarına etkileyen bir büyük damar vaskülitidir. Sistemik-lokal organ iskemisi nedeniyle heterojen-ağır özellik gösterir. Hastalık alevlenmelerle gider, kalıcı hasar bırakabilir. Tedavi yönlendirilmesi amacıyla yapılmış olan çalışmalarda TNF-alfa/İL-6'nın varlığı gösterilmiş, bunlara karşı geliştirilen ajanların hastalık kontrolünü sağladığı bildirilmiştir. Pediatrik-TA için belirlenmiş tedavi önerisi yoktur. Uygulanan tedaviler erişkin-TA hastalarından ekstrapolasyon yoluyla rutine girmiştir. Pediyatrik Takayasu hastalarında anti-sitokin tedaviler ile hastalığın kısmı yanıt gösterdiği gösterilmiştir. Yöntem: Çocuk romatoloji kliniğinde 2016 yılından itibaren TA tanısıyla izlenen hastalarda biyolojik tedavisi gereksinimin sıklığının, biyolojik kullanan hastalarının genel özelliklerinin ve tedavilerin güvenlik profillerinin belirlenmesi amaçlanmıştır. Bulgular: Kliniğimizde izlenen 10 TA tanısı almış çalışmaya dahil edilmiştir. Bu hastaların 4'ü erkek 6'sı kızdı. Ortanca hastalık başlangıç yaşı 9 yıldı (min: 7 ay-maks: 18,5 yıl). Medyan hastalık süreleri 4 yıldı (min: 6 ay-maks: 15 yıl). Çalışmaya alınan bir hasta hipertansif ensefalopati ile başvurdu. Bir hasta FMF nedeniyle takip edilirken hastalık saptandı. Hastaların bir tanesinde tanı anında ventrikül hipertrofisi bulunmaktaydı. Bir hastada vertebral arter tutulumu tanı anında görüldü. İki hasta infant dönemde tanı aldı. Bu hastalardan biri piyoderma gangrenozum ile izlenmekteydi. Bir hasta flask paralizi ve MCA infarktı ile kliniğimize başvurmuştu. Hastaların izlemlerinde %30 hasta (n=3) konvansiyonel DMARD'larla izlendi. %70 hastada (n=7) biyolojik tedaviye geçildi. Yedi hastanın tedavisinin tamamında tosiluzumab ile biyolojik tedavi başladı. Hastaların izleminde 2 hastanın tedavisinde infliksimab ile switch yapıldı. Ortanca biyolojik kullanma süresi 2 yıldı. İki hastanın switch yapılma nedeni, AFR'lerde gerileme olmamasıydı. Bu hastalarda İNF tedavi altında hastalık alevlenmesi görülmedi. Biyolojik tedavi öncesi hastaların %50'sinde (n=4) ateş, %50'sinde (n=4) hipertansiyon. %75'inde (n=6) miyalj-halsizlik-zayıflama vardı. %75 (n=6) hastada bu bulgular biyolojik tedavinin ilk 2 ayında geriledi. Biyolojik öncesi hastaların ortanca CRP değeri 41 mg/L sedim değeri 52 mm/saat idi. Biyolojik alan hastaların 1 ay sonrası bakılan ortanca CRP değeri 2 mg/L sedim değeri 10 mm/saat görüldü. Hastaların izleminde MR-anjiyo bulgularında gerileme saptanmadı. Hastaların biyolojik izlemlerinde problem yaşanmadı. Alerjik bulgular görülmedi. Hastaların hiçbirinde ortaağır enfeksiyonlar yaşanmadı. Biyolojik kullanan TA hastalarının tedaviye cevapları ve sedim-CRP düşüşleri arasında yaş-cinsiyet açısından farklılık saptanmadı. MR ile hastalık gruplandırıldığında %40 (n=4) hasta tip 1, %20 (n=2) hasta tip 2, %10 (n=1) hasta tip 3, %20 (n=2) hasta tip 4, %10 (n=1) hasta tip 5 olarak sınıflandırıldı. Gruplar arasında tedavi yanıtında fark saptanmadı. Biyolojik tedaviler İL-6 veya TNF-inhibitörleri, immünosüpresif tedavilere dirençli hastalarda güvenle kullanılmaktadır. [ABSTRACT FROM AUTHOR]

Amaç: Adenozin deaminaz-2 (ADA-2) eksikliği, otozomal resesif kalıtılan ADA-2 genindeki fonksiyon kaybettirici mutasyonlar sonucu ortaya çıkan bir vaskülitik sendromdur. Hastalarda tekrarlayan ateş atakları, livedo rasemosadan, immün yetmezlik, hematolojik tutulum, PAN benzeri klinik ve erken başlangıçlı inme gibi geniş bir spektrumda bulgular görülür. Çalışmamızın amacı ADA-2 eksikliği nedeni ile takip edilen hastalar ve semptomsuz aile bireylerinde hem genotipik hem de enzim düzey analizi ile fonksiyonel değerlendirme yapmaktır. Yöntem: Çalışmamıza 2016-2022 tarihleri arasında kliniğimizde ADA-2 tanısı ile izlenen toplam 6 aileden hasta ve semptomsuz aile bireyi dahil edildi. Çalışmaya alınan bütün bireylerin ADA-2 genine ve ADA-2 enzim aktivitesine bakıldı. Bulgular: Toplam 12 hasta (K/E:5/7) ve 9 (K/E:7/2) asemptomatik aile bireyi çalışmaya dahil edildi. Hastaların ortanca şikayet başlama yaşı, tanı yaşı sırasıyla 3,5 yıl ve 8,5 yıldı. Hastaların 4'ü (%33,3) hafif, 8'i (%66,6) ağır klinik fenotipe sahipti. En sık klinik bulgular sırasıyla tekrarlayan ateş (%75), vasküler tutulum (%66,7), eklem ağrısı (%50), miyalji (%25), artrit (%25), karın ağrısı (%25), mental retardasyon (%25), immün yetmezlik (%25), Diamond-Blackfan anemisi (%16,7), tuzak nöropatisi (%8,3) ve iskemik inme (%8,3) idi. ADA-2 enzim aktivitesi hafif klinik bulgulara sahip olanlarda, ağır klinik bulgulara sahip olanlarda ve asemptomatik bireylerde sırasıyla ortanca (min-maks): 4,1 (0-12,1), 0 (0-0,2) ve 38,9 (4,4-57,4) mU/g protein bulundu. Ağır klinik fenotipe sahip 8 hastanın 4'ünde G47R alleli saptanırken, 2 hastada S50L, 1 hastada R49fs, 1 hastada Y453C alleli saptandı.Dokuz asemptomatik bireyin 4'ünde G47R, 3'ünde Y453C, 1'inde K34fs, 1'inde R49fs alleli heterozigot olarak saptandı. Asemptomatik aile bireylerinin taşıdığı allel ve enzim aktivitesi düzeyleri arasında istatistiksel olarak anlamlı fark saptanmazken (p=0,690), en düşük enzim aktivite düzeyi R49fs allelini taşıyan bireyde saptandı. Sonuç: Çalışmamızda literatürle uyumlu olarak hastalardaki klinik bulguların genotipten ve enzim aktvitesinden bağımsız olduğu saptanmıştır. Bu nedenle fenotipteki çeşitliliği sadece neden olan mutasyon ya da rezidü enzim aktivitesi ile açıklamanın tam olarak mümkün olmadığı kanaatine varılmıştır. Bu durumu açıklayabilecek çeşitli epigenetik faktörlerle ilgili daha kapsamlı çalışmalara ihtiyaç vardır. [ABSTRACT FROM AUTHOR]

Objective: Protracted febrile myalgia syndrome (PFMS) is characterized by severe myalgia, fever, abdominal pain, and arthralgia/arthritis episodes lasting for several weeks in patients with familial Mediterranean fever. Treatment options include nonsteroidal anti-inflammatory drugs, corticosteroids, and anti-interleukin-1 therapy. This study aimed to share our experiences of PFMS so as to shed light on this rare and elusive condition., Methods: This cross-sectional analysis included 17 patients diagnosed with PFMS at our pediatric rheumatology clinic between January 2018 and September 2023., Results: In our clinic, 17 (1%) of 1663 familial Mediterranean fever patients presented with PFMS, and it was the initial manifestation in 10 patients (58.8%) in the cohort. Eight of the 17 patients had an M694V homozygous mutation in the MEFV gene. A magnetic resonance imaging showed myositis and fasciitis in just 1 patient, and myositis alone was evident in 5 others. Symptoms improved in 2 patients with nonsteroidal anti-inflammatory drugs, whereas prednisolone improved symptoms in 12 patients and anakinra was required in 3 patients. Patients who received anakinra had another severe attack and required long-term anakinra or canakinumab., Conclusions: Syndrome for PFMS is difficult to recognize as it can sometimes be the first manifestation of familial Mediterranean fever. The syndrome is not accompanied by fever in some patients, even though the word febrile is part of its name. Most patients respond dramatically to nonsteroidal anti-inflammatory drugs or corticosteroids. In some patients with PFMS, long-term anakinra or canakinumab treatment may be more useful in preventing severe attacks of PFMS than short-term (5 to 7 days) anakinra treatment., Competing Interests: The authors declare no conflict of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Objectives: We aimed to report the characteristics of pediatric IgG4-related disease (IgG4-RD) through a multicentre registry, to assess disease clusters, and to evaluate the performances of the 2019 American College of Rheumatology and European League Against Rheumatism (ACR/EULAR) classification criteria and the 2020 revised comprehensive diagnostic (RCD) criteria in this cohort., Methods: Data of IgG4-RD patients in 13 pediatric rheumatology centers were recorded to a web-based registration system. The diagnosis of IgG4-RD was made according to the 2011 comprehensive diagnostic criteria., Results: Thirty-five children (19 females and 16 males) with IgG4-RD were enrolled. The median age at diagnosis was 13.3 (25p-75p; 9.9-15.2) years. The most common organ involvement was the eye (n = 21, 60%), followed by lymph nodes (n = 12, 34.3%), musculoskeletal system (n = 12, 34.3%), and neurological system (n = 9, 25.7%). We identified three clusters in our study cohort: those with eye involvement (n = 11, 31.4%), those with eye involvement and neurological findings (n = 15, 42.9%), and those with pancreato-hepatobiliary disease and lymph node involvement (n = 9, 25.7%). Serum IgG4 levels were high in 19 out of 28 patients (67.8%). All patients except one received corticosteroid treatment, and azathioprine was the most preferred drug as a steroid-sparing agent. The sensitivities of the 2019 ACR/EULAR classification criteria and the 2020 RCD criteria were 5.7% and 88.5%, respectively., Conclusion: IgG4-RD has a wide variety of clinical manifestations, however in children the most common presentation was orbital involvement. The 2020 RCD criteria had a better performance whereas the 2019 ACR/EULAR classification criteria performed poorly in pediatric patients., (© The Author(s) 2024. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Objectives: This study aims to establish normative data on lower extremity entheseal tendon thicknesses in healthy children and examine correlations with age, gender, and anthropometric measures using musculoskeletal ultrasound. The secondary objective of the study is to investigate the power Doppler properties of entheseal tendons., Methods: A total of 192 healthy children, aged 5-18 years, participated in this cross-sectional study. Participants underwent detailed physical and ultrasonographic examinations. Entheseal tendon thickness measurements were taken from five specific regions: distal quadriceps tendon (DQT), proximal patellar ligament (PPL), distal patellar ligament (DPL), Achilles tendon (AT), and plantar fascia (PF). Correlations between thicknesses and age, weight, height, and body mass index (BMI) were analyzed. Intra-tendinous vascularity was evaluated using power Doppler. Interobserver and intraobserver agreements were assessed using intraclass correlation coefficients (ICC)., Results: Normative data on lower extremity entheseal tendon thicknesses according to age, weight, height, and BMI have been established. Significant positive correlations were found between thicknesses and age, weight, height, and BMI. Weight was identified as the most influential factor, particularly for the DPL and AT. Right side tendons (AT and PF) are statistically thicker. Minimal Doppler activity was detected in 10.6% of the entheseal DQTs in the group of children aged 5-9 years. The study achieved high to excellent interobserver and intraobserver agreement., Conclusion: This study examined the ultrasonographic characteristics of lower extremity entheseal tendons in healthy children using B-mode and power Doppler, provided normative data on their thicknesses, and demonstrated significant correlations between thicknesses and age, sex, and anthropometry., (© The Author(s) 2024. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

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.

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., (© 2024. The Author(s).)

Objectives: To develop a novel scoring system to predict colchicine resistance in Familial Mediterranean fever (FMF) based on the initial features of the patients., Methods: The medical records of patients were analyzed prior to the initiation of colchicine. After generating a predictive score in the initial cohort, it was applied to an independent cohort for external validation of effectiveness and reliability., Results: Among 1418 patients with FMF, 56 (3.9%) were colchicine resistant (cr) and 1312 (96.1%) were colchicine responsive. Recurrent arthritis (4 points), protracted febrile myalgia (8 points), erysipelas-like erythema (2 points), exertional leg pain (2 points), and carrying M694V homozygous mutation (4 points) were determined as the parameters for predicting cr-FMF in the logistic regression model. The cut-off value of 9 was 87% sensitive and 82% specific to foresee the risk of cr-FMF in the receiver operating characteristic. Validation of the scoring system with an independent group (cr-FMF = 107, colchicine responsive = 1935) revealed that the cut-off value was 82% sensitive and 79% specific to identify the risk of cr-FMF., Conclusions: By constructing this reliable and predictor tool, we enunciate that predicting cr-FMF at the initiation of the disease and interfering timely before the emergence of complications will be possible., (© Japan College of Rheumatology 2023. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Background: We aimed to compare the efficacy and safety of the original product (OP) and biosimilar product (BP) of adalimumab in pediatric rheumatic diseases., Research Design and Methods: The study group consisted of patients who had received original or biosimilar adalimumab (ABP 501) therapy for at least 3 months. The patients were divided into uveitis and arthritis groups based on the indication of adalimumab treatment. Assessment of disease activity was performed by Juvenile Arthritis Disease Activity Score in patients with juvenile idiopathic arthritis, and by standardization of uveitis nomenclature criteria in patients with uveitis., Results: The study included 140 patients, of which 87 were treated with OP and 53 with BP. In the arthritis group, 26 (63.4%) and 20 (57.1%) patients reached inactive disease according to JADAS-27 in the original and biosimilar adalimumab groups, respectively. In the uveitis group the mean number of exacerbations throughout the treatment period was 0.84 ± 1.07 in the OP group, and 0.58 ± 0.79 in the BP group. There were 71 treatment-emergent adverse events in the OP group and 38 in the BP group., Conclusion: There was no significant difference between the biosimilar and the original product in efficacy and safety.

Competing Interests: Conflict of Interest: The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.

Objective: The study aimed to report the efficacy and safety of anakinra treatment in patients with the refractory multisystemic inflammatory syndrome in children (MIS-C)., Methods: This is a cross-sectional retrospective study consisting of pediatric patients diagnosed with MIS-C who were treated with anakinra., Results: Among the 378 patients diagnosed with MIS-C, 82 patients (21.6%) who were treated with anakinra were included in the study. The median age of patients was 115 (6-214) months. The median duration of hospitalization was 15 (6-42) days. Sixty patients (73.1%) were admitted to the pediatric intensive care unit. Patients were treated with a median dose of 2.7 mg/kg/day anakinra concomitant with IVIG and steroids. Intravenous anakinra was applied to 12 patients while 70 patients received it subcutaneously. Twenty-eight patients required high dose (4-10 mg/kg/day) anakinra. The median day of anakinra initiation was 2 (1-14) days and the median duration of anakinra use was 7 (1-41) days. No injection site reactions were observed while elevated transaminase levels were detected in 13 patients. Seventy-three patients (89.1%) were discharged without any sequela or morbidity. Seven patients (1.8%) died. Abnormal echocardiographic findings continued in two patients (2.4%) (coronary artery dilatation in one, low ejection fraction in one) at discharge and became normal on the 2 nd month., Conclusion: Based on the results of the study, anakinra was associated with clinical improvements and was safe for most patients with refractory MIS-C., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Çaǧlayan, Sönmez, Otar Yener, Baǧlan, Öztürk, Ulu, Guliyeva, Demirkol, Çakan, Özdel, Bukulmez, Aktay Ayaz and Sözeri.)

Objectives: To review the real-life data, to provide an input to the literature concerning treatment of juvenile idiopathic arthritis (JIA) with adalimumab (ADL) biosimilar., Method: This multi-centric retrospective study was conducted among children with JIA, followed up for at least 24-weeks from the initiation of ADL biosimilar (ABP 501) treatment. Adverse events and alterations in disease activity scores were figured out., Results: The median age of the group was 15.5 (5-18) years. JIA categories were oligoarticular (n =12), enthesitis-related (ERA) (n=24), psoriatic (PsA) (n=6), and polyarticular (n=4). Uveitis was detected at the initiation of the disease (n=3), during the disease course (n=5), or before the diagnosis (n=1). The first-line treatment preferences were ADL biosimilar (n=37) and etanercept (n=9). On the 6th month of ABP 501, 40 (86.9%) patients had achieved complete remission. Six patients (1 PsA, 1 polyarticular JIA, and 4 ERA) had ongoing active arthritis. Furthermore, all except one of the patients had remission of ophthalmologic findings. No life-threatening adverse events were observed., Conclusions: ABP 501 has a gradual increase in prescription in pediatric rheumatology. Real-life data of the cohort announce that ADL biosimilar is a suitable and effective treatment option for patients with JIA in case of indication.