Muserref Kasap Cuceoglu

Objective: Chronic malnutrition, hypothermia, and hormonal imbalance in anorexia nervosa (AN) may impair capillary structure and perfusion. This study aimed to describe the nailfold videocapillaroscopy (NVC) findings in adolescents with AN and atypical AN (AAN), to assess their association with Raynaud's phenomenon (RP), and evaluate longitudinal capillary changes following medical remission. Methods: We evaluated the NVC findings of 26 adolescents with AN, 24 with AAN and 9 with primary RP as a control group (12–18 years). Additionally, 23 patients with AN and AAN were reevaluated after achieving medical remission and weight restoration. Results: While both the AN and AAN group had significant capillary changes, most NVC parameters were comparable between the groups, except for a higher prevalence of early scleroderma pattern in AN ( p = 0.037). RP was associated with higher enlarged capillary scores in AN ( p = 0.018) and higher prevalence of early scleroderma pattern in AAN ( p = 0.007). Univariate analysis showed vital instability significantly heightened odds of having hemorrhages (OR = 5.79), giant capillaries (OR = 3.93) and tortuosity (OR = 3.82). Longitudinal assessment showed improvement in almost all capillary changes, with all early scleroderma patterns completely resolving after medical remission ( p = 0.001). Discussion: Our findings suggest the presence of microvascular alterations in adolescents with AN, particularly during the acute phase. Although weight restoration improved microvascular changes, long‐term monitoring is necessary to determine whether all findings resolve over time or there is an increased risk of developing sequelae in the future.

Objectives: To examine cross-national accessibility and reimbursement policies for IL-1 inhibitors in FMF treatment and compare national guidelines. Methods: As part of the Clinical Practice Strategies (CLiPS) project, data on biologic DMARD (bDMARD) access and reimbursement were collected through questionnaires distributed to paediatric and adult rheumatologists and national representatives of the project. CLiPS representatives from non-responding countries were contacted via email. National FMF treatment guidelines were retrieved from PubMed, MEDLINE, Scopus and Google Scholar searches without language restrictions. Analysis focused on colchicine resistance, intolerance, adverse events, biologic indications and IL-1 inhibitor availability. Results: We examined 39 countries and obtained national guidelines from 11. Country representatives indicated the use of EULAR 2016 recommendations as their guidelines in seven further countries. Anakinra was available for colchicine-resistant FMF treatment in 29 of 39 countries and covered by national health insurance in 23 of these 29 (79.3%). Canakinumab was accessible in 23 of 39 countries, with reimbursement in 21 of 23 (91.3%). Eighteen countries imposed additional prescription and reimbursement restrictions for bDMARDs in FMF patients. Conclusions: Significant multi-country disparities exist for the prescription of IL-1 inhibitors in FMF, with variations in national guidelines, drug availability and reimbursement. Standardized treatment guidelines and equitable access to therapies are essential to improve patient care.

Introduction: Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in childhood and exhibits a heterogeneous disease course. This study aimed to analyse and identify phenotypic clusters by examining the laboratory findings, nailfold capillaroscopy results, and myositis- specific autoantibodies (MSAs) in patients with JDM. Material and methods: This retrospective cohort study included data from patients with JDM treated at the Paediatric Rheumatology Departments of 14 advanced health centres in Turkey. A categorical principal component analysis (CATPCA)-based hierarchical cluster analysis method was employed for clustering. Results: A total of 176 JDM patients were enrolled, and 5 phenotypic clusters were identified using 23 categorical variables. These clusters were interpreted as follows: Cluster A with severe muscle weakness and oesophageal involvement requiring intensive immunosuppressive treatment; Cluster B with amyopathic/hypomyopathic patients; Cluster C with skin manifestations and lung involvement; Cluster D with complicated skin manifestations; and Cluster E with classic JDM. The clinical and laboratory findings and treatments of these 5 clusters were compared. Fatigue, myalgia, photosensiti­vity, Raynaud’s phenomenon, and the use of pulse glucocorticosteroids, intravenous immuno­globulin, and cyclophosphamide treatments differed between the groups (p < 0.001, p = 0.002, p = 0.015, p = 0.036, p = 0.002, p = 0.006, and p = 0.024, respectively). Myositis-specific autoantibodies results were available for 119 patients (65.3%). The most frequent MSAs were antinuclear matrix protein 2 (26.1%) and anti-transcription intermediary factor 1 (20.9%). However, no significant differences were found in MSAs or nailfold capillaroscopy findings. Conclusions: We identified 5 clusters based on patient symptoms and findings. The identification of these 5 clusters can guide more effective treatment strategies in clinical practice. Additionally, these approaches may contribute to improving patients’ quality of life and long-term outcomes by increasing the feasibility of individualised treatment.

Background: Granulomatous–lymphocytic interstitial lung disease (GLILD) is a rare pulmonary complication associated with primary and secondary immunodeficiencies. It is characterized by lymphocytic and granulomatous infiltration and poses diagnostic challenges due to overlapping features with infections and autoimmune conditions. Case Presentation: We report an 8‐year‐old child with monogenic lupus and combined T‐ and B‐cell immunodeficiency who presented with recurrent respiratory infections, cytopenias, hepatosplenomegaly, and diffuse pulmonary infiltrates. Imaging revealed persistent ground‐glass opacities and consolidations. To establish a definitive diagnosis, transbronchial lung cryobiopsy (TBLC) was performed under general anesthesia. Three adequate specimens were obtained from the right lower lobe without complications. A systematic literature review was also conducted using PubMed and Scopus to evaluate reported pediatric GLILD cases and biopsy approaches. Results: Histopathology confirmed non‐caseating granulomatous inflammation with lymphocytic infiltration, while special stains excluded infections. A diagnosis of GLILD was established, and rituximab therapy was planned in addition to ongoing MMF and immunoglobulin replacement. The literature review revealed limited pediatric cases, with surgical lung biopsy historically preferred. Conclusion: This case highlights the feasibility and safety of TBLC for diagnosing GLILD in immunocompromised children. PROSPERO ID: 1142148.

Objectives: To assess whether baseline bone mineral density (BMD) influences treatment response and predicts the need for treatment switching in patients with chronic nonbacterial osteomyelitis (CNO). Methods: Demographics and clinical characteristics of patients, 25-OH vitamin D levels, radiologic findings (dual-energy X-ray absorptiometry, magnetic resonance imaging), and treatment switching were evaluated. First, patients were divided into 2 groups based on their treatment options: group 1 (NSAIDs/cDMARDs) and group 2 (TNFi/bisphosphonates). In addition, predictive factors for treatment switching were identified through binary logistic regression analysis in patients evaluated by DEXA. Results: Ninety-one patients (females, 54.9%) with CNO were included. BMD was analyzed in 48 (52.7%) patients and was normal in 20 (41.6%), osteoporotic in 19 (39.6%), and osteopenic in 9 (18.8%). Overall, 42 (68.9%) patients had vitamin D insufficiency/deficiency. In group 1 (n=10), none of the patients had osteoporosis, 3 (30%) had osteopenia, and 7 (70%) had normal BMD results, whereas in group 2 (n=38), 19 (50%) had osteoporosis and 6 (15.7%) had osteopenia ( p =0.016). Multivariate logistic regression analysis revealed that osteoporosis (OR=7.685, 95% CI: 1.679-26.562, p =0.009) and axial involvement (OR=2.625, 95% CI: 1.751-13.069, p =0.034) were the predictive factors for the treatment switching. Conclusion: Patients with normal BMD were more likely to respond well to first-line treatment. Osteoporosis and axial involvement are predictive factors for therapy switching in refractory disease. Although vitamin D deficiency is common in our cohort, its effect on relapse was not found. Monitoring of osteoporosis may be critical in the selection of second-line treatment.

New and long-term follow-up cases of human TBK1 deficiency reveal that patients are vulnerable to severe viral encephalitis in addition to systemic autoinflammation. Findings underscore the dual nature of TBK1 deficiency in combining autoinflammatory disease with impaired antiviral defense.

Objectives The aim of this study was to describe the cutaneous manifestations of patients with autoinflammatory bone diseases and to evaluate the relationship between cutaneous manifestations, bone involvement, and systemic inflammation in Turkish children. Methods This retrospective multicenter study was conducted in nine pediatric rheumatology centers between the years 2013 and 2023 in patients with a diagnosis of autoinflammatory bone disease with cutaneous manifestations. Demographic data, laboratory findings, cutaneous manifestations, bone involvement, and treatments were recorded. Results Two hundred and sixty-nine autoinflammatory bone disease patients were evaluated. Fifty-one patients with cutaneous manifestations (46 CRMO and five Majeed syndrome) were included in this study. The mean diagnostic delay was 16.1 ± 11.7 months in those with cutaneous manifestations and 25.3 ± 9.9 months in those with bone involvement (p = 0.02). The most common skin lesions were acne (n = 26), pustules (n = 23), and papules (n = 10). Patients with acne had more frequent male sex and higher ESR and CRP levels (p = 0.01, p = 0.03, and p = 0.04, respectively). Patients with pustules had a younger age at symptom onset and age at diagnosis and higher ESR and CRP levels (p = 0.04, p = 0.04, p = 0.04, p = 0.02, p = 0.03, respectively). In patients with CRMO, the mean time to remission was 2.1 ± 0.7 years for cutaneous manifestation and 2.9 ± 1.4 years for bone involvement (p = 0.04). Conclusion Skin lesions may appear before bone lesions in autoinflammatory bone diseases, serving as an important early warning sign for diagnosis. Lesions such as acne and pustules are more common in these conditions and may contribute to the severity of inflammation in autoinflammatory bone diseases. Key Points • Skin lesions, most commonly acne and pustules, are frequently observed in autoinflammatory bone diseases. • It would be appropriate to closely monitor skin involvement to manage the disease and inflammation.

Background: Although colchicine is the mainstay of familial Mediterranean fever (FMF) treatment, 5–10% of patients are considered to have colchicine resistance (CR). However, there is no globally agreed CR definition or indications for biological disease-modifying anti-rheumatic drugs (bDMARDs). Methods: A survey on ‘Biologics in Monogenic Autoinflammatory Diseases’, part of the ‘Clinical Practice Strategies’ (CLiPS) initiative, was conducted by a JIR cohort-initiated eCOST network among expert participants worldwide. Our primary aim was to provide a flowchart reflecting the different CR definitions and present data regarding bDMARD indications. The secondary aim was to determine how specific biases influence clinical approaches. We analysed the CliPS according to the experience levels of physicians, country-specific FMF prevalence, countries’ gross domestic product, bDMARD availability and reimbursement policies of the countries. Results: A total of 223 responses from 46 countries were included in the study. Almost half of the respondents (73/160, 45.6%) indicated that three to four attacks within the preceding 6 months were necessary for their CR definition. The most frequently used acute-phase reactant was C-reactive protein (157/164, 95.7%). Almost three-fourths of the respondents (74%, n=165) considered that supplementary factors, including complications of FMF, attack severity, elevated activity scores, patient-reported outcome and quality of life scales, influenced their CR definition. Conclusion: We present a novel flowchart describing physicians’ general attitudes and unique findings regarding management strategies for colchicine-resistant FMF and shifting trends influenced by epidemiological and socioeconomic factors.