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Çalışanların iş yaşamındaki davranışları ve işleriyle olan ilişkileri pek çok değişkenden etkilenmektedir. Bu değişkenlerden en önemlilerinden biri de yöneticilerin liderlik davranışları ve işletmenin personel güçlendirme kültürüdür. Örgütler sürdürülebilir rekabet amacı için bilgiye ve güçlü insan kaynağına ihtiyaç duymaktadır. Bu çalışmanın birincil amacı küresel rekabet ortamında değişimin gücünden en iyi şekilde yararlanabilmek için bir gereklilik olan personel güçlendirme kavramı ile bireysel yaratıcılık ilişkisini ortaya koymaktır. Ayrıca personel güçlendirme ve bireysel yaratıcılık ilişkisinde liderlik görevlerinin rolünün incelenmesidir. Bu amaçla, kartopu örneklem belirleme yönteminden yararlanarak, İstanbul’da bir kamu kurumuna bağlı 300 çalışan ile ampirik bir araştırma gerçekleştirilmiştir. Araştırma bulguları IBM SPSS Statistics v.26 ve Hayes Process Macro v.4.1. istatistik programı yardımıyla analiz edilmiştir. Araştırmada veriler, frekans analizi, açıklayıcı faktör analizi, güvenilirlik analizi, pearson korelasyon analizi, çoklu regresyon analizi kullanılarak incelenmiştir. Yapılan analizler neticesinde personel güçlendirmenin bireysel yaratıcılık üzerindeki etkisi pozitif ve anlamlı olarak bulunmuştur. Personel güçlendirme ve bireysel yaratıcılık ilişkisinde liderlik görevlerinin aracı değişken olduğu tespit edilmiştir. Liderlik görevlerinin hem bireysel yaratıcılık hem de personel güçlendirme üzerinde etkili olduğu görülmüştür. Bu çalışma İstanbul Esenyurt Üniversitesi Etik Kurulu tarafından 31.05.2022 tarihli ve 2022/05-3 sayılı kararı ile etik açıdan uygun bulunmuştur.

Objectives: This study aims to present our experience on anakinra, a recombinant interleukin-1 (IL-1) receptor antagonist, and efficacy results in pediatric rheumatic diseases in our clinic. Patients and methods: Between July 1st, 2016 and July 1st, 2020, a total of 33 pediatric patients (18 males, 15 females; mean age: 6±3.4 years; range 4 to 13 years) with pediatric rheumatic diseases who were treated with anakinra were retrospectively analyzed. The patients with over one-month treatment period and followed for at least one year were included. Demographic and clinical findings, outcomes, adverse events, prior and/or additional treatments were collected at baseline, at 3 and 12 months of therapy. Results: There were 33 patients with different pediatric rheumatic diseases (11 with systemic juvenile idiopathic arthritis [sJIA] complicated by macrophage activation syndrome [MAS], six with hyperimmunoglobulin-D syndrome, five with cryopyrin-associated periodic syndrome, five with familial Mediterranean fever, four with idiopathic recurrent pericarditis, one with NLRP12-associated periodic fever syndrome and one with unclassified systemic autoinflammatory disease), in the study group. The complete response was observed 69.7% of patients, partial response in 24.2%, and no response in 6.1% at three months of treatment. Inactive disease status was achieved in 45.5% of the patients with remission-on medication and 18.2% of the patients with remission-off medication at the end of a year. Anakinra was switched to other biological treatments in 51.5% of patients (n=17). Biological switch to canakinumab and tocilizumab were observed in 70.6% and 29.4% of these patients. Except for local reactions (n=2), no adverse events were observed in any of the patients. Conclusion: Anakinra appears to be a promising treatment alternative owing to its rapid effect as a result of its short half-life in autoinflammatory conditions. While short-term therapy seems to be sufficient for the sJIA complicated by MAS, the patients with systemic autoinflammatory diseases maintenance a more anakinra-dependent course.

Eğitim kurumlarında eğitim gören öğrenci profillerindeki farklılık son dönemlerde hızla artmakta, eğitim açısından avantajlı ve dezavantajlı sayılan öğrenciler birlikte aynı sınıflarda eğitim ve öğretim çalışmalarına katılmaktadırlar. Salgın sürecinde tüm dünya ile eş güdümlü olarak ülkemizde de uygulanan uzaktan eğitim faaliyetlerinde özellikle dezavantajlı öğrencilerin almış olduğu eğitim ve öğretimin yeterliliği bu öğrencilerin akademik gelişimi açısından oldukça önemlidir. Yapılan araştırmanın temel problemi uzaktan eğitim sürecinde dezavantajlı öğrencilerin almış oldukları eğitim ve öğretimlerin yeterli olup olmamasıdır. Bu durumun nedenlerinin ortaya çıkarılması ise araştırmanın temel amacını oluşturmaktadır. Araştırma 2021-2022 eğitim öğretim yılında yapılmış olup araştırmanın çalışma grubunu ise Mersin İli Tarsus İlçesinde merkez ve köy okullarında çalışan 20 sınıf öğretmeni oluşturmaktadır. Veriler nitel araştırma yöntemlerinden, fenomenoloji deseni kullanılarak toplanmış olup veri toplamak için ise yüz yüze görüşme tekniği tercih edilmiştir. Veriler, araştırmacı tarafından yarı yapılandırılmış görüşme formları hazırlanarak toplanmış ve içerik analizine tabi tutulmuştur. Verilerin elde edilmesi için katılımcılara “Salgın sürecinde uygulanan uzaktan eğitimde, sınıflarda bulunan dezavantajlı öğrencilerin aldıkları eğitimle alakalı düşüncelerinizi öğrenebilir miyim?” Sorusu sorulmuştur. Yapılan araştırmada sınıf öğretmenlerinin tamamı dezavantajlı öğrencilerin yeteri kadar eğitim alamadıklarını söyleyerek, 8 öğretmen maddi yönden dezavantaja, 6 öğretmen dezavantajlı öğrencilerin birebir eğitime ve birebir ilgiye ihtiyaç duyduklarını, 4 Katılımcı, dezavantajlı öğrencilerin sürecin olumsuzluklarına daha fazla maruz kaldıklarını, 2 katılımcı, dezavantajlı öğrencilerin veliler tarafından daha fazla ilgiye muhtaç olduklarını belirtmiştir. Araştırma sonucunda, dezavantajlı öğrencilerle yapılan eğitim öğretim çalışmalarında yüz yüze eğitime ve destek eğitimlere daha çok önem ve yer verilmesi önerisinde bulunulmuştur.

Objectives We aimed to outline the demographic data, clinical spectrum, treatment approach of sarcoidosis in a large group of patients and sought to figure out the variations of early-onset (EOS) and late-onset pediatric sarcoidosis (LOS). Methods The study followed a retrospective-descriptive design, with the analysis of medical records of cases diagnosed as pediatric sarcoidosis. Results Fifty-two patients were included in the study. The median age at disease onset and follow-up duration were 83 (28.2-119) and 24 (6-48) months, respectively. Ten (19.2%) cases had EOS (before 5th birthday) and 42 (80.7%) patients had LOS. The most common clinical findings at the time of the disease onset were ocular symptoms (40.4%) followed by joint manifestation (25%), dermatologic symptoms (13.5%), and features related to multi-organ involvement (11.5%). Anterior uveitis was the most common (55%) one among ocular manifestations. Patients with EOS displayed joint, eye, and dermatological findings more commonly than patients with LOS. The recurrence rate of disease in patients with EOS (5.7%) and LOS (21.1%) were not statistically different (p=0.7). Conclusions Patients with EOS and LOS may present with variable clinical features and studies addressing pediatric sarcoidosis cases in collaboration between disciplines will enhance the awareness of this rare disease among physicians and assist early diagnosis with lesser complications.

Dünya nüfusunun hızla artmasına paralel olarak ortaya çıkan daha fazla üretme zorunluluğu, gıda üretiminde güvenlik ve kalite gibi bazı özelliklerin göz ardı edilmesi ihtimalini doğurmuştur. Ancak zamanla beslenme bilincinin değişmesine ve gelir seviyesinin yüksek olmasına bağlı olarak bazı toplumlarda yeni talepler ortaya çıkmıştır. Bu yapı içerisinde şekillenen organik arıcılık, genel olarak ürünün organik bal dışında herhangi bir besin ve kimyasala maruz kalmadan elde edilmesi, bozulmamış ve kirleticilere karşı hassas alanlarda yetiştirilmesi, tüm aşamaların kontrol ve sertifikasyon ile denetlenmesi esasına dayanmaktadır. Arıcılıktan elde edilen gelirin artmasını sağlayan ve tüketicilerin istenilen özelliklere sahip ürünler tedarik etmesine olanak sağlayan organik arıcılık, Türkiye'de yeni bir model olarak gelişmektedir. Ancak hem doğal hem de kamusal kaynakların çok daha verimli kullanılması için bazı planların yapılması yerinde olacaktır. Bu amaçla hazırlanan bu çalışmada, ilgili mevzuat dikkate alınarak mevcut durum değerlendirilmiş, diğer yandan koloni yoğunluğunun arttığı ülkede kaynakların verimli kullanılmasına yönelik önerilerde bulunulmuştur.

Objectives Behçet’s disease (BD) is a systemic vasculitis affecting many organ systems, with the involvement of all-sized arteries and veins. The study aims to determine the main characteristics of paediatric BD patients and also analyse the clustering phenotypes. Methods Demographic data, clinical manifestations, laboratory features, treatment schedules, and disease outcomes were achieved from patients’ charts retrospectively. A cluster analysis was performed according to the phenotype. Results A total of 225 (109 male/116 female) patients with BD were enrolled in the study. The median ages of disease onset and diagnosis were 131 (36–151) and 156 (36–192) months, respectively. According to cluster analysis, 132 (58.6%) patients belonged to the mucocutaneous-only cluster (C1), while 35 (15.6%) patients fitted to articular type (C2), 25 (11.1%) were in the ocular cluster (C3), 26 (11.6%) were in the vascular cluster (C4), and 7(3.1%) belonged to the gastrointestinal cluster (C5). Ocular and vascular clusters were more common in boys (p Conclusions These identified juvenile BD clusters express different phenotypes with different outcomes Our analysis may help clinicians to identify the disease subtypes accurately and to arrange personalized treatment.

In the evaluation of children with Kawasaki disease (KD), the age of onset is important and complications may occur if the distinctive features are not assessed accordingly. The objective of the study is to define the clinical and laboratory presentations and treatment outcomes of KD in infants ≤6 months of age compared to those >6 months multicentrically. This retrospective study reviewed the medical records of the patients diagnosed with KD and followed up between January 2009 and January 2019. A total of 204 KD patients were enrolled and grouped according to age as Group I (≤6 months, n = 31) and Group II (>6 months, n = 173). Except for cervical adenopathy (19.3% vs. 47.4%, p = 0.03), the major clinical manifestations of KD were similar between groups I and II. However, the frequency of incomplete and atypical KD was higher in Group I (38.7% vs. 24.8%, p = 0.04, 38.7% vs. 8.1% p < 0.001, respectively). Clinical features such as vomiting/diarrhea (19.3% vs. 1.1% p < 0.001), aseptic meningitis (19.3% vs. 2.3%, p = 0.001) were more common in Group I. Percentage of neutrophils (45.5 vs. 36, p = 0.004) and hemoglobin levels (8 vs. 10.5 gr/dL, p = 0.02) were statistically lower and platelet count (737,000 vs 400,000/mm3, p = 0.004) was statistically higher in group I. Coronary artery lesions (CALs) were more common in Group I (48% vs. 20%, p < 0.001). Harada and Kobayashi scores appear to be effective in predicting coronary artery lesions (CALs) and IVIG resistance in the entire cohort. There was no diagnostic delay in group I (5.5 vs 6.5 days, p = 0.88). Since clinical presentations and laboratory features of KD may vary with age, and the frequency of atypical and incomplete presentations is high, awareness of KD in young children should be raised among pediatricians.

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.

Introduction: Neuropsychiatric (NP) involvement is a restricted area in juvenile-onset systemic lupus erythematosus (jSLE). Aim: To investigate the prevalence, demographic and clinical features, and outcomes of the neurological involvement in the Turkish jSLE population. Methods: This study was based upon 24 referral centers' SLE cohorts, multicenter and multidisciplinary network in Turkey. Patient data were collected by a case report form which was standardized for NP definitions according to American Collage of Rheumatology (ACR). Systemic Lupus International Collab-orating Clinics/American College of Rheumatology Damage Index (SDI) neuropsychiatric part was used to determine NP damage. Variables were evaluated Ward's hierarchical clustering analyses, univariate, and multivariate logistic regression analyses. Results: A hundred forty-nine of 1107 jSLE patients had NP involvement (13.5%). The most common NPSLE findings were headache (50.3%), seizure (38.3%), and acute confusional state (33.6%). Five clusters were identified with all clinical and laboratory findings. The first two clusters involved neuropathies, demyelinating diseases, aseptic meningitis, and movement disorder. Cluster 3 involved headache, activ-ity markers and other SLE involvements. Idiopathic intracranial hypertension, cerebrovascular disease, cognitive dysfunction, psychiatric disorders and SLE antibodies were in the fourth, and acute confusional state was in the fifth cluster. In multivariate analysis, APA positivity; OR: 2.820, (%95CI: 1.002-7.939), P: 0,050, plasmapheresis; OR: 13.804 (%95CI: 2.785-68.432), P: 0,001, SLEDAI scores; OR: 1.115 (%95CI: (1.049-1.186), P: 0,001 were associated with increased risk for neurologic sequelae. Conclusion: We detected the prevalence of juvenile NPSLE manifestations in Turkey. We have identified five clusters that may shed light pathogenesis, treatment and prognosis of NP involvements. We also determined risk factors of neurological sequelae. Our study showed that new definitions NP involvements and sequelae for childhood period are needed. (c) 2023 Socie ' te ' franc,aise de rhumatologie. Published by Elsevier Masson SAS. All rights reserved.

To investigate the rates of ocular complications and visual loss and their risk factors in patients with juvenile idiopathic arthritis (JIA) -associated uveitis.Medical records of 51 patients were reviewed.The incidence of visual loss to the 20/50 or worse was found to be 0026/ eye-year (EY) in the present study. Cataract and ocular hypertension occurred during the follow-up period and were significantly associated with visual acuity loss to 20/50 or worse (p = .008, HR 11.932, 95% CI 1.915-74.355; p = .03, HR 7.323, 95% CI 1.216-44.110, respectively). Anti-TNF therapy was initiated in 88.2% of our cases and 93.3% of them achieved uveitis inactivity.The risk of vision loss is higher in patients with JIA-associated uveitis who had complications at presentation. We attribute the lower complication rates and better visual outcomes in our study to the early and frequent use of biologic agents.

We aimed to compare the efficacy and safety of the original product (OP) and biosimilar product (BP) of adalimumab in pediatric rheumatic diseases.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.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.There was no significant difference between the biosimilar and the original product in efficacy and safety.

Introduction: Generalized joint hypermobility is a clinical feature that is associated with excessive joint laxity, which can occur alone or with various inherited disorders. The term of benign joint hypermobility or joint hypermobility is used when the presence of musculoskeletal symptoms in subjects with generalized joint hypermobility in the absence of demonstrable systemic rheumatic diseases. In recent studies, it was shown that there is a strong relationship between structural and functional gastrointestinal disorders and joint hypermobility. We aimed to analyze the prevalence of celiac disease in a group patient with joint hypermobility. Patients and methods: The study included the 2 groups of children (i) Group 1; patients with joint hypermobility that were followed in pediatric rheumatology outpatient clinic (n=131). (ii) Group 2; healthy children without known chronic diseases (n=995). Demographic features, clinical findings, accompanying symptoms and anthropometric measurements of all patients were recorded. All cases were screened for celiac disease by serological marker and histopathological examinations if serological marker was positive. Results: There was no difference between two groups for age, gender, presence of malnutrition and accompanying symptoms (p>0.05). Serology positivity of anti-tissue transglutaminase IgA >20 RU/ml was found in seven patients with joint hypermobility. After histopathological examinations, asymptomatic celiac disease was detected in one (n=1, 0.9%) and potential celiac disease in six patients (n=6, 5.3%). There were six (0.6%) patients with positive serology in the control group. Celiac serology positivity and potential celiac disease were higher in patients with joint hypermobility (6.2%, vs. 0.6%, OR: 10.9, 95% CI: 3.6-33, p < 0.001 and 5.3%, vs. 0.4%, OR: 13.9, 95% CI: 3.6-50, p < 0.001, respectively), but no significant difference was found on the prevalence of asymptomatic celiac disease (0.9%, vs. 0.2%, OR: 4.4, p=0.22). Conclusion: Our study shows the increased prevalence of potential celiac disease in patients with joint hypermobility. Serological screening of celiac disease is recommended for to rule out organic problems in the presence gastrointestinal symptoms in patients with BJH.

Objectives: In this study, we present our clinical severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) experience in patients with childhood rheumatic disease during novel coronavirus-2019 (COVID-19) pandemic. Patients and methods: A total of 87 patients (50 males, 37 females; median age: 12 years; range, 6.6 to 16 years) suspected of having COVID-19 at our pediatric rheumatology clinic between March 11th and October 15th 2020 were retrospectively analyzed. Demographic and clinical features, treatments, laboratory results, imaging findings, and clinical outcomes of the patients diagnosed with COVID-19 and/or multisystem inflammatory syndrome in children (MIS-C) were retrieved from the medical records. The diagnosis of SARS-CoV-2 infection was made based on the reverse transcriptase-polymerase chain reaction test. Results: The most common rheumatic diseases were juvenile idiopathic arthritis and familial Mediterranean fever (35.6% and 34.5%, respectively). Twenty-six of these patients were treated with biological disease-modifying anti-rheumatic drugs. SARS-CoV-2 infection was tested as positive in 84 (96.5%) patients. Also, 51 (58.6%) patients had an epidemiological contact to a person with COVID-19. Eighteen patients met the clinical criteria and diagnosed with MIS-C. The COVID-19 outbreak also caused exacerbation of systemic disease in 56 children due to medication cessation, postponed drug switch, or recurrent viral infection. Conclusion: Children with rheumatic disease do not appear to present a higher risk of severe COVID-19. The immunosuppressive treatments can be adjusted in case of infection; otherwise, it is not recommended to interrupt the treatments. Physicians should be cautious about the hyperinflammatory syndrome associated with COVID-19 in rheumatic children, which may be severe in this group of patients and may be confused with primary diseases.

Growing pains (GP) are the most common cause of recurrent musculoskeletal pain in children. There are no diagnostic criteria for GP. We aimed at analyzing GP-related characteristics and assisting GP diagnosis by using machine learning (ML). Children with GP and diseased controls were enrolled between February and August 2019. ML models were developed by using tenfold cross-validation to classify GP patients. A total of 398 patients with GP (F/M:1.3; median age 102 months) and 254 patients with other diseases causing limb pain were enrolled. The pain was bilateral (86.2%), localized in the lower extremities (89.7%), nocturnal (74%), and led to awakening at night (60.8%) in most GP patients. History of arthritis, trauma, morning stiffness, limping, limitation of activities, and school abstinence were more prevalent among controls than in GP patients (p = 0.016 for trauma; p 0.001 for others). The experiments with different ML models revealed that the Random Forest algorithm had the best performance with 0.98 accuracy, 0.99 sensitivity, and 0.97 specificity for GP diagnosis. This is the largest cohort study of children with GP and the first study that attempts to diagnose GP by using ML techniques. Our ML model may be used to facilitate diagnosing GP.

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.

Objective.Systemic lupus erythematosus (SLE) is a chronic autoimmune disease. The American College of Rheumatology (ACR) 1997, Systemic Lupus International Collaborating Clinics (SLICC) 2012, and European League Against Rheumatism (EULAR)/ACR 2019 SLE classification criteria are formed based on data mainly from adult patients. We aimed to test the performances of the SLE classification criteria among pediatric patients with SLE.Methods.Pediatric patients with SLE (n = 262; 80.9% female) were included from 3 different centers in Turkey. As controls, 174 children (60.9% female) with other diseases who had ANA (antinuclear antibody) test results were included. The gold standard for SLE diagnosis was expert opinion.Results.The sensitivities of the ACR 1997, SLICC 2012, and EULAR/ACR 2019 criteria were 68.7%, 95.4%, and 91.6%, respectively. The specificities of the ACR 1997, SLICC 2012, and EULAR/ACR 2019 criteria were 94.8%, 89.7%, and 88.5%, respectively. Eighteen patients with SLE met the SLICC 2012 but not the EULAR/ACR 2019 criteria. Among these, hematologic involvement was prominent (n = 13; 72.2%). Eight patients with SLE fulfilled the EULAR/ACR 2019 but not the SLICC 2012 criteria. Among these, joint involvement was prominent (n = 6; 75%).Conclusion.To our knowledge, this is the largest cohort study of pediatric SLE to test the performances of all 3 classification criteria. The SLICC 2012 criteria yielded the best sensitivity, whereas the ACR 1997 criteria had the best specificity. SLICC 2012 criteria performed better than EULAR/ACR 2019 criteria. Separation of different hematological manifestations in the SLICC 2012 criteria might have contributed to the higher performance of this criteria set.

Systemic autoinflammatory diseases (SAIDs) may not always present with typical clinical findings of a monogenic disease. We aimed to genetically screen and diagnose these clinically unclassified patients by next-generation sequencing (NGS) analysis.A total of 64 patients who had clinical findings of a periodic fever syndrome but did not meet the clinical diagnostic criteria for any SAID or had clinical findings for more than one monogenic SAID were identified as "clinically unclassified SAIDs." NGS panel analysis, including 16 genes, was performed in these patients. Patients, who could not be classified as one of the defined SAID after the result of the NGS gene analysis, were identified as "undefined SAID."The most common autoinflammatory symptoms in unclassified SAID patients were abdominal pain (60.9%), arthralgia (48.4%), urticarial rash (43.8%), myalgia (40.6%), oral aphthae (28.1%), and conjunctivitis (20.3%), respectively. In the result of the NGS gene panel screening, pathogenic, likely pathogenic variants, or VUS (variants of uncertain significance) were detected in 36 of 64 patients in at least one gene in the NGS panel. A total of 15 patients were diagnosed with a monogenic SAID according to both phenotypic and genotypic data; 12 patients as FMF, two patients as FCAS, and one patient as TRAPS, respectively. A total of 49 patients who did not meet the classification criteria including genetic results for a monogenic SAID were followed as undefined SAID.The classification criteria described for SAIDs so far unfortunately do not cover all patients with signs of periodic fevers. The NGS gene panel appears to be a useful diagnostic tool for some of the patients with clinically unclassified SAID findings. Key Points • The classification criteria described for SAIDs do not cover all patients with signs of periodic fevers • The use of the undefined SAID nomenclature will benefit clinicians for diagnosis and initiating early treatment • The NGS panel appears to be a useful diagnostic tool in patients with clinically unclassified SAIDs.

OBJECTIVES: This study aims to evaluate the plasma expression of microribonucleic acids (miRNAs) that may be associated with the pathogenesis of familial Mediterranean fever (FMF). PATIENTS AND METHODS: Thirty patients with FMF (18 males, 12 females; mean age 9.1±4.7 years; range, 3 to 15.5 years) and 30 age- and sex-matched healthy children (18 males, 12 females; mean age 9.5±4.6 years; range, 4 to 16.5 years) were included in this study. The plasma levels of four candidate miRNAs (miRNA-16, miRNA-155, miRNA-204 and miRNA-451) were measured in all subjects. The plasma levels of miRNAs were analyzed with real- time polymerase chain reaction in attack and remission periods of patients and healthy controls (HCs). RESULTS: Plasma miRNA-204 levels of FMF patients were decreased 6.5 fold in remission period compared to HCs (p

Since the Syrian civil war in 2011, an estimated number of 3.6 million Syrian refugees crossed into Turkey, and almost half of them were children. The distribution of rheumatic diseases in Syrian refugee children is not known. The aim of this study was to describe the profile of rheumatic diseases in Syrian refugee children living in Turkey. The demographic data, clinical and laboratory findings, medications, complications and outcome results of Syrian refugee children who had visited Pediatric Rheumatology Departments of University of Health Science Kanuni Sultan Süleyman Research and Training Hospital, Ümraniye Research and Training Hospital, Şanlıurfa Research and Training Hospital, and Cengiz Gökçek Maternity and Gynecology Hospital between April 1, 2011, and September 1, 2019, were evaluated retrospectively. A total of 151 patients were included in the study. Among them, 51 patients had juvenile idiopathic arthritis (JIA), 49 had familial Mediterranean fever (FMF), 43 had vasculitis, and 8 had connective tissue diseases. Homozygous M694V mutation was the most common mutation among FMF patients. Oligoarticular JIA (41.2%) was the most frequent type of JIA, and enthesitis-related arthritis (ERA) (27.5%) was the second one. The frequency of systemic JIA was 11.8%. One patient with SLE died due to complicated meningitis. This is the first study evaluating the distribution of rheumatic diseases in Syrian refugee children. Clinical follow-up of rheumatologic diseases is difficult in Syrian refugees due to language barriers, social and cultural differences. Health care systems should be well organized to provide appropriate care to asylum seekers.

Background Although not validated fully, recommendations are present for diagnosis, screening and treatment modalities of patients with familial Mediterranean fever (FMF). Objective To review the current practices of clinicians regarding FMF and reveal their adherence to consensus guidelines. Methods Fifteen key points selected regarding the diagnosis and management of FMF were assessed by 14 paediatric rheumatologists with a three-round modified Delphi panel. Results Consensus was reached on the following aspects: genetic analysis should be ordered to all patients when clinical findings support FMF, but its result is not decisive alone. In the absence of clinical features, colchicine should be commenced when two pathogenic alleles and family history of amyloidosis are present. Serum amyloid A testing at each visit is recommended in patients resistant to colchicine, with subclinical inflammation and family history of amyloidosis. Consensus was reached on both the definition of colchicine resistance and starting biologic in resistant cases. Cost, efficiency, ease of use, treatment adherence, accessibility and emergence of adverse events are the factors affecting the choice of biologic agents. In patients without any attack and evidence of subclinical inflammation within the last 6 months following initiation of biologics, treatment dose intervals can be prolonged. Conclusion A consensus was achieved regarding the routine diagnosis and screening and treatment of FMF patients. The definition of colchicine resistance was made and a protocol was created for prolongation of treatment intervals of biologic agents. We anticipate that the results of the study reveal real-life data on the approach to patients in clinical practice. Supplementary Information The online version contains supplementary material available at 10.1007/s00296-020-04776-1.

Objectives To determine the rate of achieving The Lupus Low Disease Activity State (LLDAS) in children with systemic lupus erythematosus (SLE) for tracing pertinent treatment modalities. Methods A total of 122 juvenile-onset SLE (jSLE) patients from six pediatric rheumatology centers in Turkey were enrolled in the study. LLDAS-50 was defined as encountering LLDAS for at least 50% of the observation time. According to the achievement of LLDAS-50, clinical features, immunological profiles, and treatments of patients with jSLE have been revealed. Results LLDAS of any duration was achieved by 82% of the cohort. Although only 10.8% of the patients achieved remission, 68.9% reached LLDAS-50. A significant difference was found between patients who reached LLDAS-50 and those who did not, in terms of the time to reach low-dose corticosteroid treatment ( p = 0.002), the presence of subacute cutaneous findings ( p = 0.007), and the presence of proteinuria ( p = 0.002). Both of the groups were under similar treatment approaches. However, the number of patients being treated with corticosteroids at the last visit was found to be significantly higher in patients who achieved LLDAS-50 ( pConclusion Targeting LLDAS in jSLE, even with long-term, low-dose corticosteroid use, seems to be an achievable goal in clinical practice.

Objectives 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. Methods 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. Results 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). Conclusion 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.

To compare the clinical and laboratory findings of multisystem inflammatory syndrome in children (MIS-C), patients with Kawasaki disease (KD) and with macrophage activating syndrome due to systemic juvenile idiopathic arthritis (sJIA-MAS) on real-life data. Patients diagnosed with MIS-C, KD, and sJIA-MAS from 12 different centers in Turkey who were followed for at least 6 months were included in the study. Demographic, clinical, and laboratory findings of all patients were analyzed. A total of 154 MIS-C, 59 KD, and 31 sJIA-MAS patients were included. The median age of patients with MIS-C were higher than those with KD while lower than those with sJIA-MAS (8.2, 3, 12 years, respectively). Myalgia (39.6%), cardiac (50.6%), gastrointestinal (72.7%), and neurological (22.1%) involvements were more common in patients with MIS-C compared to others. MIS-C patients had lower levels of lymphocyte (950 vs 1700 cells/µl) and thrombocyte (173,000 vs 355,000 cells/µl) counts and higher pro-BNP (1108 vs 55 pg/ml) levels than KD. Ferritin levels were higher in patients with MIS-C compared to patients with KD while they were lower than patients with sJIA-MAS (440, 170, 10,442 ng/ml, respectively). Patients with MIS-C had a shorter duration of hospitalization than sJIA-MAS (p = 0.02) while they required intensive care unit admission more frequently (55 vs 8 patients, p < 0.001). The median MAS/sJIA score of MIS-C patients was ? 1.64 (? 5.23 to 9.68) and the median MAS/sJIA score of sJIA-MAS patients was ?2.81 ([? 3.79] to [? 1.27]). MIS-C patients displayed certain differences in clinical and laboratory features when compared to KD and sJIA-MAS. Definition of the differences and similarities between MIS-C and the other intense inflammatory syndromes of childhood such as KD and MAS will help the clinicians while making timely diagnosis. © 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

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.

Introduction: Systemic lupus erythematosus (SLE) may present with features of several systems, including hematological manifestations. In this study, we aimed to evaluate the characteristics of hematological involvement and assess possible associations and correlations in pediatric SLE patients. Method: This is a retrospective multi-center study. The medical records of pediatric SLE patients followed between January 2000 and June 2020 were analyzed. All children fulfilled the criteria of the Systemic Lupus International Collaborating Clinics. Results: The study included 215 children with SLE, 118 of whom had hematological manifestations. Concomitant renal involvement and low C3 levels were significantly more frequent in patients with hematological involvement ( p = 0.04, p = 0.008, respectively). Also, anti-cardiolipin, anti-beta-2-glycoprotein I (anti-β2 GP1), and anti-Sm antibody positivity, and the presence of lupus anticoagulant were more common in the group with hematological findings ( p = 0.001 for anti-cardiolipin antibody positivity and p < 0.001 for the positivity of anti-β2 GP1 antibody, anti-Sm antibody, and lupus anticoagulant). The most common hematologic abnormality was anemia (n = 88, 74.5%), with autoimmune hemolytic anemia constituting the majority (n = 40). Corticosteroids followed by IVIG were the mainstay of treatment. In patients resistant to corticosteroid and IVIG treatments, the most preferred drug was rituximab. Low levels of C3, high SLEDAI score, high incidence of renal involvement, and positive antiphospholipid antibodies were associated with hematological involvement in the univariate analysis. The presence of antiphospholipid antibodies and high SLEDAI score were independently associated with hematological involvement in multivariate analysis (OR: 4.021; 95% CI: 2.041–7.921; p < 0.001 and OR: 1.136; 95% CI: 1.065–1.212; p < 0.001). Conclusion: Hematological abnormalities are frequently encountered in pediatric SLE. Positive antiphospholipid antibodies and high SLEDAI scores were associated with hematological involvement.

Objective: Takayasu arteritis is a rare granulomatous chronic vasculitis that affects the aorta and its main branches. Neurologic manifestations can accompany the disease; however, there is no study on neuroimaging in children with Takayasu arteritis. Therefore, we aimed to evaluate cranial magnetic resonance imaging (MRI) in pediatric Takayasu arteritis patients. Materials and Methods: Demographic, clinical, and laboratory data were obtained retrospectively. Results: The study included 15 pediatric Takayasu arteritis patients. All patients presented with constitutional symptoms. Additionally, 6 patients suffered from headache, 2 had syncope, 1 had loss of consciousness, and 1 had convulsion. All patients underwent cranial and diffusion MRI a median 12 months after diagnosis. Cranial MRI findings were normal in 12 patients, whereas 3 patients had abnormal findings, as follows: stenosis in the M1 and M2 segments of the left middle cerebral artery (n = 1); diffuse thinning of the right internal carotid, middle cerebral, and right vertebral and basilar artery (n = 1); as a sequela, areas of focal gliosis in both the lateral ventricular and posterior periventricular regions (n = 1). Among these 3 patients, 1 had no neurologic complaints. Conclusion: Abnormal MRI findings can be observed in pediatric Takayasu arteritis patients, even those that are asymptomatic; therefore, clinicians should carefully evaluate neurologic involvement in all pediatric Takayasu arteritis patients.

To evaluate the vaccine response of treatment-naive juvenile idiopathic arthritis (JIA) patients who were fully vaccinated against Hepatitis B Virus (HBV) and then compare their antibody status with healthy controls. In this multicenter study, initial visit hepatitis B surface antigen (HbsAg) and anti-hepatitis B surface antibody (anti-Hbs) titers of 262 treatment-naive JIA patients who were followed up regularly between May 2015 and October 2019 were evaluated retrospectively from patients’ medical records and compared with 276 healthy peers. Both HbsAg and anti-Hbs antibody titers were tested by the ELISA technique. Anti-HBs titers ≥ 10 IU/L were considered as reactive indicating seroprotection against HBV. In the JIA group, seropositivity rate was 59.1% while 72.9% of the control group were immune against HBV (p = 0.002). The median titer for anti-Hbs was 14 (range: 0–1000) IU/L in the patient group and 43.3 (range: 0–1000) IU/L in the control group (p = 0.01). Neither JIA patients nor healthy controls were positive for HbsAg. Patients with JIA vaccinated according to the national vaccination schedule were evaluated at their first visit in pediatric rheumatology outpatient clinics for anti-Hbs presence and it was found that they have lesser seroprotectivity than their age and sex-matched routinely vaccinated, healthy peers. So, to complete missing vaccines and booster vaccine doses, assessing the immune status of the patients at the time of diagnosis against HBV should be in the check-list of physicians dealing with pediatric rheumatic diseases.

Objective The objective of the study was to describe the findings of pediatric patients diagnosed with COVID-19 in computed tomography (CT) and chest X-ray (CXR) images. Therefore, the aim of this study is to show protecting the children from radiation as much as possible while guiding the diagnosis. Methods Between March and June 2020, 148 pediatric patients examined who underwent CT due to suspicion of COVID-19. Fifty patients of 148 with normal thorax CT and negative reverse transcription polymerase chain reaction (RT-PCR) were excluded from the study. Of the remaining 98 patients were evaluated retrospectively by two pediatric radiologists with 15 years of experience. Results The demographic, clinical, and laboratory data were evaluated for 52 RT-PCR-positive patients. CT finding of 23 RT-PCR positive and 12 negative patients was classified. According to our study, unilateral (61-67%), multifocal (50-52%), and peripheral (83-91%) involvement were higher in all groups. Lower lobe involvement was frequently detected (58-65%). The most frequently detected parenchymal lesion was ground-glass opacity followed by consolidated areas accompanying ground-grass opacities. Halo sign and vascular enlargement signs were the common signs of lung lesions (35%). In addition, some rare findings not previously described in this disease in children were mentioned in this study. The clinical course of all our patients was mild and control radiological imaging checked by CXR. Conclusion Most pediatric patients have a mild course. Hence, a balance between the risk of radiation and necessity for chest CT is very important. Low-dose CT scan is more suitable for pediatric patients but still it should be used cautiously.

The clinicians initially prefer to define patients with the systemic autoinflammatory disease (SAID)'s based on recommended clinical classification criteria; then, they confirm the diagnosis with genetic testing. We aimed to compare the initial phenotypic diagnoses of the patients who were followed up with the preliminary diagnosis of a monogenic SAID, and the genotypic results obtained from the next-generation sequence (NGS) panel.Seventy-one patients with the preliminary diagnosis of cryopyrin-associated periodic fever syndrome (CAPS), mevalonate kinase deficiency (MKD), or tumor necrosis factor-alpha receptor-associated periodic fever syndrome (TRAPS) were included in the study. The demographic data, clinical findings, laboratory results, and treatments were recorded. All patients were examined by NGS panel analysis including 16 genes. The genetic results were compared with the initial Federici score to determine whether they were compatible with each other.Thirty patients were initially classified as MKD, 22 as CAPS, and 19 as TRAPS. The frequency of clinical manifestations was urticarial rash 57.7%, diarrhea 49.2%, abdominal pain 47.8%, arthralgia 45%, oral aphthae 43.6%, myalgia 32.3%, tonsillitis 28.1%, and conjunctivitis 25.3%, respectively. After NGS gene panel screening, 13 patients were diagnosed with CAPS, 8 with MKD, 7 with familial Mediterranean fever, 5 with TRAPS, and 2 with NLRP12-associated periodic syndrome. The remaining 36 patients were genetically identified as undefined SAID since they were not classified as one of the defined SAIDs after the result of the NGS panel.We have demonstrated that clinical diagnostic criteria may not always be sufficient to establish the correct diagnosis. There is still low accordance between clinical diagnoses and molecular analyses. In the case of a patient with a preliminary diagnosis of a monogenic SAID with the negative result of target gene analysis, other autoinflammatory diseases should also be kept in mind in the differential diagnosis. Key Points • Monogenic autoinflammatory diseases can present with different clinical manifestations. • The clinical diagnostic criteria may not always be sufficient to reach the correct diagnosis in autoinflammatory diseases. • In the case of a patient with a preliminary diagnosis of a monogenic SAID with the negative result of target gene analysis, other autoinflammatory diseases should be kept in mind in the differential diagnosis.

Introduction The aim of this study is to describe the computed tomography (CT ) and chest X-Ray (CXR) findings of pediatric patients diagnosed COVID-19. Therefore, to protect children from radiation as much as possible while guiding the diagnosis. Material and Methods Between March and June 2020, 148 pediatric patients examined who underwent CT due to suspicion of COVID-19 . Fifty patients of 148 with normal thorax CT and negative reverse transcription polymerase chain reaction (RT-PCR) were excluded from the study. Of the remaining 98 patients were evaluated retrospectively by two pediatric radiologists with 15 years of experience. Results The dermographic, clinical and laboratory data are evaluated for 52 RT-PCR positive patients. CT finding of 23 RT-PCR positive and 12 negative patients are classified. According to our study unilateral (61-67%), multifocal(50-52%) and peripheral (83-91%) involvement is higher in all groups. Lower lobe involvement is frequently detected (58-65%). The most frequently detected parenchymal lesion is ground glass opacity(GGO) fallowed by consolidated areas accompanying ground grass opacities. Halo sign and vascular enlargement findings are the most common signs of lung signs (35%). All of our patients mildly clinical findings and checked with CXR. Coclusion Compared with adults most pediatric patients are mild type, which requires a balance between the risk of radiation and necessity for chest CT. Low-dose CT scan is more suitable for this population. CT should be used with more caution in pediatric patients.

Immunoglobulin A vasculitis (IgAV) is the most common form of childhood systemic vasculitis. It is mostly self-limiting and characterized by skin, joint, gastrointestinal tract, and kidney involvement. Microribonucleic acids (miRNAs) are 18-25 base-long non-coding RNA group acting on gene expression. They have been shown to be effective on the immune system studies to date.In our study, 24 IgAV children with skin and joint involvement and 24 healthy children were included. Five different miRNAs (miR-33, miR-34, miR-122, miR-204, and miR451) known to be expressed in plasma and related with autoimmunity pathogenesis were evaluated. miRNAs were compared between the active period of the disease, the post-treatment period, and the healthy group using the real-time PCR method.Expression levels of miRNA-33 and miRNA-34 increased significantly in active period of the patients compare with inactive period and control groups. The expression levels of miRNA-122 and miRNA-204 decreased significantly in active period of the patients compare with other two groups. There was no significant difference in miRNA-451 levels.With the experience we gained from our recent studies, we think that miRNA-204 may be a significant biomarker in autoimmune diseases. Our study is the first study between IgAV and miRNAs in children. More studies are needed to reveal this relationship. Key Points • This is the first paper to show the relationship between miRNAs and childhood IgAV. • It will provide a new perspective to evaluate the pathogenesis of the disease.

OBJECTIVE The aim of this study was to evaluate the dental status and temporomandibular diseases (TMDs)-related symptoms in children with generalized joint hypermobility (GJH) and compare them with healthy controls (HCs). METHODS This is a cross-sectional, observational study carried out between September 2016 and April 2017. A total of 124 children with GJH (n = 62) and HC (n = 62) were enrolled. The GJH was assessed with the Beighton hypermobility score. The subjects were screened for dental status and TMD-related symptoms. The assessment included the index for "decayed," "missing," and "filled teeth" (DMFT, dmft); plaque; gingival bleeding; tooth mobility; and temporomandibular joint (TMJ) evaluation. RESULTS The mean Beighton hypermobility score was 6.3 ± 1.2 in the GJH group. Visible plaque index and gingival bleeding index scores were found to be significantly higher in children with GJH then in the HC (p = 0.031, p = 0.023). No differences were found regarding the DMFT scores between the groups (p = 0.16). Temporomandibular disorder-related symptom frequencies were significantly higher in children with GJH (p < 0.001). The most common clinically determined sign of TMD was clicking with a maximum active mouth-opening. Combined TMJ symptoms and TMD were observed in approximately one third of the children with GJH. CONCLUSIONS The presence of GJH in a child may be indicative of future dental or TMJ problems, and it may cause dental problems due to increased gingival bleeding index and visible plaque index scores. Therefore, children with GJH require preventive dental and TMJ care.

Objective Familial Mediterranean fever (FMF) is a monogenic inherited periodic fever syndrome presenting with episodes of self-limiting fever and inflammation of serosal membranes. Besides the findings in the diagnostic criteria, musculoskeletal findings can also be seen in FMF patients attacks. In this study, we aim to reveal the frequency and genotype association of musculoskeletal manifestations in children with FMF. Methods The patients diagnosed with FMF between January 1, 2017 and June 1, 2019, and followed for at least six months in our pediatric rheumatology clinic were included in this study. Musculoskeletal manifestations of patients were enrolled. The patients were grouped according to the "Mediterranean Fever" (MEFV) gene variants. Musculoskeletal manifestations of the patients were compared between the groups. Results The study group included 634 children with FMF (336 female and 298 male, F/M: 1.13/1). The clinical manifestations of patients in the attack period were as follows: 99% of the patients had a fever, 87.3% had abdominal pain, 20.7% had chest pain, 11.3% had vomiting, 10.7% had erysipelas like erythema, and 9.3% had a headache. The musculoskeletal symptoms were accompanied by 58.6% (n=372) of the patients during the attack period. The most common musculoskeletal manifestation was found as arthralgia (32.6%, n=206). Also, the other musculoskeletal manifestations were as follows during attacks: arthritis in 23.7% (n=150), myalgia in 20.5% (n=130), exertional leg pain in 6.5% (n=41), and protracted febrile myalgia in 1% (n=7) of the patients. It was observed that the musculoskeletal manifestations were significantly higher in patients with homozygous M694V variants in exon-10 (p=0.017). The musculoskeletal manifestations were more common in the attack periods of patients carrying the M694V variant in at least one allele (p=0.019). Conclusion We found that the musculoskeletal manifestations were accompanied in more than half of patients with FMF. M694V variant was found as a risk factor for emerging musculoskeletal manifestations.

Neonatal inflammatory bowel disease (IBD) is a subclass of very early onset IBD that includes children younger than 1 month. It is characterized by more colonic involvement and monogenetic etiology, resistance to classical anti-inflammatory/immunomodulatory treatments and associated with colitis in first-degree family members. Herein we report a 3 month-old girl who was admitted with bloody diarrhea since 10 days of age. Her symptoms persist despite diet elimination. She was diagnosed with neonatal ulcerative colitis (UC) based on clinical, laboratory and histopathological examination. But, she was unresponsive to the immunosuppressive therapy. On the follow-up, she was hospitalized for the high fever two times. Genetic analysis revealed homozygote M694 V mutation. Bloody diarrhea and other clinical findings were improved after colchicine therapy. Neonatal UC associated with Familial Mediterranean fever is an extremely rare condition and to the best of our knowledge our case is the first case in literature. Early diagnosis autoinflammatory disease may prevent complications related to unnecessary immunosuppressive drug usage and the risk of development of amyloidosis associated with autoinflammatory disorders.