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Objective: To compare the demographic and clinical characteristics of familial Mediterranean fever (FMF) patients according to age at disease onset and evaluate the dose effect of the number of pathogenic or likely pathogenic exon 10 mutations of the MEFV gene on disease severity. Methods: This medical record review study was performed on 485 pediatric FMF patients with uni- or biallelic exon 10 mutations of the MEFV gene (M694V, M694I, M680I, V726A, R761H, T267I). Patients were grouped according to age at disease onset (Group 1:<6 years; Group 2:6–11 years; and Group 3:>11 years). Disease severity was assessed by the international severity scoring system for FMF (ISSF). Results: Of the patients, 294 (60.6%) were classified in Group 1, 152 (31.4%) in Group 2 and 39 (8%) in Group 3. The mean elapsed time to diagnosis was 26.7 ± 27.4 months in Group 1 and was higher than the other groups (p < 0.001). During the attack, fever was higher in Group 1, arthritis in Group 2, and chest pain in Group 3 (p < 0.001). The median ISSF score was similar in patients with uni- or biallelic mutations in Group 1 and 3 (p = 0.086, p = 0.35, respectively) but lower in heterozygous patients in Group 2 (p < 0.001). In Groups 1 and 2, mild disease severity was higher in heterozygotes, while moderate disease severity was higher in homozygotes (p = 0.034, p = 0.001, respectively). Conclusion: The presence of pathogenic or likely pathogenic homozygous or compound heterozygous mutations in exon 10 of the MEFV gene in patients with early-onset disease is associated with a more severe disease course compared to patients with heterozygous mutations. The gene dose effect of the number of mutations on disease severity is more common in children aged 6–11 years. [ABSTRACT FROM AUTHOR]

Objective: The aim of the this study was to evaluate immunoglobulin A vasculitis (IgAV) patients on colchicine therapy and determine the causative factors leading to the initiation and maintenance of colchicine. Material and Methods: This retrospective study was conducted receiving IgAV patients on colchicine at our clinic between January 2013 and June 2023. Demographic, clinical, and laboratory data of IgAV patients were obtained from their electronic medical records. Results: A total of 33 IgAV patients receiving colchicine, 20 (60.6%) males and 13 (39.4%) females, were included in the study. The mean age at diagnosis of IgAV was 111.6±45.5 months. Colchicine was initiated in 13 (39.4%) patients with persistent rash, 8 (24.2%) with severe gastrointestinal tract involvement, seven (21.2%) with generalized/severe rash, and five (15.2%) with recurrent IgAV. The median elapsed time to colchicine initiation was 30 (10.5-60) days. The median duration of colchicine usage was ten (IQR, 6-54) months. Colchicine treatment was discontinued in 14 patients after a median 6.5 (IQR, 3-11.2) months. At the last visit, 13 (39.4%) patients were receiving colchicine for familial Mediterranean fever (FMF), four (12.1%) for recurrent IgAV, and two (6.1%) for persistent rash. Conclusion: Colchicine should be kept in mind especially in the presence of severe, persistent or recurrent rash. Early initiation of colchicine treatment should be considered in IgAV patients with severe GI tract disease, especially in countries where FMF is common. [ABSTRACT FROM AUTHOR]

Background. Anti-signal recognition protein (anti-SRP) myopathy is a rare idiopathic inflammatory myopathy in children. Herein, a 3-year-old patient with severe anti-SRP myopathy showing a rapidly progressive disease course is presented in order to increase the awareness of pediatricians about idiopathic inflammatory myopathies. Case Presentation. A previously healthy 3-year-old girl presented with progressive symmetrical proximal muscle weakness that caused difficulty in climbing stairs for two months prior to evaluation, and a marked elevation of the serum creatine kinase levels. A skeletal muscle biopsy revealed necrotic and regenerating processes, with mild inflammatory changes. Myositis-specific and associated autoantibodies tested by the immunoblot method were positive for anti-SRP. Pulse corticosteroid, intravenous immunoglobulin, and methotrexate were administered. However, muscle weakness progressed, respiratory distress and dysphagia developed. Rituximab was initiated. While on rituximab treatment, she was able to walk independently and muscle enzymes were within normal range at the 15th month of diagnosis. Conclusion. Early diagnosis of patients with anti-SRP myositis is important to control inflammation and prevent disease progression and complications. To our knowledge, our patient is the youngest case reported in the literature and was successfully treated with rituximab added to conventional therapy. [ABSTRACT FROM AUTHOR]

Objective Idiopathic inflammatory myopathies (IIM) are chronic, multisystemic, autoimmune diseases affecting mainly the skin and proximal muscles. In this study, we aimed to determine the factors that may predict the disease course and to investigate the effect of major complications on the disease course in juvenile IIM patients. Methods This retrospective, observational study was conducted in Ankara Pediatrics Hematology Oncology Training and Research Hospital between 2009 and 2019 and University of Health Sciences Turkiye, Ankara Bilkent City Hospital between 2019 and 2022 with patients who were followed up for at least 6 months with a diagnosis of IIM. Demographic, clinical, laboratory findings, myositis-specific antibodies, treatments, disease course and complications were recorded. Results Thirty patients with IIM were included in the study. Eighteen (60%) of the patients were female. The median age at diagnosis was 118.5 [inter quartile range (IQR): 76.5-139.5] months. Twenty-six (86.7%) patients had muscle weakness, 27 (90.0%) had skin manifestations, 11 (36.7%) had arthritis, 4 (13.3%) had gastrointestinal system involvement, 2 (6.6%) had generalized edema, 1 (3.3%) had pulmonary involvement, and 1 (3.3%) had cardiac involvement. The median follow-up period was 25 (IQR: 17.7-72.5) months. Monocyclic course was observed in 15 (50.0%), polycyclic in 4 (13.3%) and persistent in 11 (36.6%) patients. Calcinosis developed in 4 (13.3%) patients and severe steroid side effects in 3 (10%) patients. The 6th month Childhood Myositis Assessment Scale (CMAS) score was significantly correlated with monocyclic disease course. Conclusion CMAS score is useful tool in predicting the disease course in patients with IIM. Patients with low 6th month CMAS score should be carefully followed up considering the increased possibility of polycyclic/persistent course. Keywords:Idiopathic inflammatory myopathy, juvenile dermatomyositis, prognosis, complications: [ABSTRACT FROM AUTHOR]

Objectives: The aim of this study was to identify potential predictors of the disease course of systemic juvenile idiopathic arthritis (sJIA) at the time of diagnosis. Methods: This retrospective observational study was conducted in patients diagnosed with sJIA in our hospital between April 2009 and October 2023. The relationship between the disease course of sJIA patients and demographic, clinical, laboratory findings and complications was analysed. Results: Of the 51 patients diagnosed with sJIA, 26 (51%) patients had monocyclic, 7 (13.7%) polycyclic, and 18 (35.2%) persistent disease course. The presence of arthritis, polyarticular involvement, and hip involvement at the time of diagnosis were associated with persistent disease course (P = .009, P = .003, P = .003). Serositis and higher white blood cell and neutrophil counts at the time of diagnosis were associated with a monocyclic disease course (P = .034,.002,.008). However, no significant correlation was found between macrophage activation syndrome and disease course (P = 1). Conclusions: sJIA patients with polyarthritis and hip involvement at disease onset may develop a persistent course. Although macrophage activation syndrome is an important complication of sJIA, its effect on the course of the disease was not found in this study. [ABSTRACT FROM AUTHOR]

Aim: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease characterised by recurrent episodes of fever and polyserositis. Sacroiliac joint involvement is rare in FMF patients. The purpose of this study was to evaluate the demographic, clinical, laboratory and imaging findings of patients with FMF who developed sacroiliitis. Methods: The files of paediatric patients aged 0–18 years who were followed up with a diagnosis of FMF were retrospectively reviewed. FMF patients with evidence of sacroiliitis on magnetic resonance imaging (MRI) were included in the study. Results: Among 1062 FMF patients, 22 (12 males; median age 8.5) (2.1%) of them were found to have sacroiliitis. FMF was diagnosed before sacroiliitis in nine (40.9%) patients and after in 13 (59.1%) patients. The most common symptom in patients with sacroiliitis was low back pain (n = 21, 95.5%). In MEFV gene analysis, M694V was found in 16 (72.7%) patients and was the most common mutation. MRI showed evidence of sacroiliitis in all patients. All patients were using colchicine. Patients with FMF‐associated sacroiliitis, remission was achieved with non‐steroidal anti‐inflammatory drugs in 12 (54.5%), conventional disease‐modifying antirheumatic drugs in six (27.3%) and tumour necrosis factor inhibitor treatment in four (31.8%). Four (31.8%) patients experienced sacroiliitis when colchicine incompatible and four (31.8%) patients experienced sacroiliitis while using biologic agents for colchicine‐resistant FMF. Conclusions: FMF‐associated sacroiliitis should be considered especially in patients with M694V mutation if they have symptoms such as low back pain. Colchicine‐resistant FMF patients should be evaluated for sacroiliitis symptoms at each visit. [ABSTRACT FROM AUTHOR]

Juvenile dermatomyositis (JDM) is an auto-immune disease characterised by muscle weakness and typical skin findings. Although peri-orbital oedema and facial swelling are compatible cutaneous findings in JDM, they are extremely rare. A 7-year-old boy who presented with peri-orbital oedema and facial swelling without muscle weakness is reported. In addition, he had cholestasis and marked cytopenia, which are uncommon in JDM, and malignancy and metabolic disorders were primarily considered in the aetiology. He had no musculoskeletal complaints other than elevated muscle enzymes on presentation but developed muscle weakness during follow-up, and a muscle biopsy was compatible with inflammatory myopathy. He responded favourably to conventional treatment and there were no physical limitations or skin findings by the 14th month of follow-up. Although patients presenting with typical clinical features are easy to diagnose, atypical skin findings are challenging for the clinician. In the presence of atypical skin and clinical findings in addition to muscle enzyme elevation, JDM should be considered in the differential diagnosis. Abbreviations: AHCE: asymptomatic hyper-CKemia; AST: aspartate aminotransferase; C: complement; CK: creatine kinase; IVIG: intravenous immunoglobulin; IIM: idiopathic inflammatory myopathy; JDM: juvenile dermatomyositis; LDH: lactate dehydrogenase; MAA: myositis-associated antibodies; MDA5: melanoma differentiation-associated gene 5; MRC: Medical Research Council; MRI: magnetic resonance imaging; MSA: myositis-specific antibodies; MTX: methotrexate NXP2: nuclear matrix protein 2; STIR: short tau inversion recovery; US: ultrasound. [ABSTRACT FROM AUTHOR]

Objectives: Our study aimed to evaluate the relationship of small joint involvement with demographic, clinical, and laboratory findings and to determine its possible effects on prognosis. Methods: This retrospective observational study was conducted in patients diagnosed with oligoarticular juvenile idiopathic arthritis (oJIA) in the paediatric rheumatology department of Ankara City Hospital between April 2009 and September 2022. The relationship between small joint involvement and demographic, clinical, and laboratory findings and prognosis was investigated by statistical methods with the data recorded from the medical records of oJIA patients. Results: Of the 198 patients diagnosed with oJIA, small joint involvement was observed in a total of 20 (10%) patients, 11 (5.5%) at the time of diagnosis, and 9 (4.5%) during the follow-up period. The frequency of small joint involvement in extended oJIA was significantly higher than in persistent oJIA (P = .001). Patients with small joint involvement had significantly higher erythrocyte sedimentation rate and C-reactive protein values at admission (P = .047, P = .038) and Juvenile Arthritis Disease Activity Score at 3, 6, and 12 months (P = .001, P = .001, P = .018). The need for conventional disease-modifying antirheumatic drugs and biologic disease-modifying antirheumatic drugs was significantly higher in patients with small joint involvement (P = .001, P = .001). Conclusions: oJIA patients with small joint involvement may have higher acute phase reactants at diagnosis, a more extended course and active disease in follow-up, and the need for treatment escalation. [ABSTRACT FROM AUTHOR]

The geometrical and hydraulic parameters have a great impact on the mass transfer characteristics of annular centrifugal contactors. The objective of this study is to evaluate the mass transfer performance of a single annular centrifugal contactor by applying the computational fluid dynamics informed compartment modelling approach. In the study, a steady state compartment model of an annular centrifugal contactor is developed in gProms general purpose process modeller by using the hydrodynamic parameters obtained from computational fluid dynamics simulations performed in OpenFOAM with the GEneralised Multifluid Modelling Approach (GEMMA). The mass transfer rate predicted by the developed compartment model is compared with data obtained from uranium extraction with Tributyl Phosphate experiments performed with a laboratory-scale annular centrifugal contactor. Uranium concentrations in the organic and aqueous outlets and the mass transfer rate evaluated by the developed compartmented contactor model are in good agreement with the experimental data. The results reveal that the use of a hydrodynamic-informed compartment modelling approach raises the possibility of designing full-scale annular centrifugal contactors without the need for detailed computational fluid dynamics simulations and the prediction of mass transfer performance of the whole system from laboratory scale experiments. [ABSTRACT FROM AUTHOR]

Objectives: The aim of this study is to evaluate differences in school performance, school attendance, quality of life, and physical activity in adolescents with Familial Mediterranean fever (FMF) compared to healthy controls. Methods: One hundred and twenty-nine patients with FMF and 154 healthy controls between 13 and 18 years were included in the study. Demographic, school performance (according to grade point average), school absenteeism, and type and frequency of exercise were recorded. Quality of life was evaluated with the Pediatric Quality of Life Inventory (PedsQL) 4.0. Results: The mean age of FMF patients was 15.1 ± 2.7 years, and 69 patients (53.5%) were female. School performance was significantly higher in the control group compared to FMF patients (P < 0.001). In the control group, there were significantly higher participants who engaged in professional sports (P < 0.001). Patients with FMF had significantly lower self-reported PedsQL scores in school functioning, physical, and psychosocial health domains compared to those in the control group (P = 0.001, P < 0.001, and P = 0.028, respectively). Conclusions: FMF patients demonstrated lower school performance and quality-of-life scores compared to healthy controls. In addition to improving symptoms in chronic diseases, it is important to evaluate and improve the quality of life of patients in routine practice and to ensure psychosocial well-being. [ABSTRACT FROM AUTHOR]