Publications by authors named "Ozgur Kasapcopur"

218 Publications

Differences and similarities of multisystem inflammatory syndrome in children, Kawasaki disease and macrophage activating syndrome due to systemic juvenile idiopathic arthritis: a comparative study.

Rheumatol Int 2021 Sep 7. Epub 2021 Sep 7.

Pediatric Rheumatology, Cerrahpaşa Faculty of Medicine, İstanbul University-Cerrahpaşa, Istanbul, Turkey.

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.
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http://dx.doi.org/10.1007/s00296-021-04980-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8421714PMC
September 2021

Frequency of juvenile idiopathic arthritis and associated uveitis in pediatric rheumatology clinics in Turkey: A retrospective study, JUPITER.

Pediatr Rheumatol Online J 2021 Aug 23;19(1):134. Epub 2021 Aug 23.

Istanbul University-Cerrahpasa, School of Medicine, Koca Mustafapaşa Cd. No:53, Fatih, 34098, Istanbul, Turkey.

Background: Juvenile idiopathic arthritis (JIA), is the most common pediatric rheumatologic disorder with unknown etiology. Currently, no population-based data are available regarding the distribution of categories and frequency of uveitis in patients with JIA in Turkey. The purpose of this study was to evaluate the frequency of JIA-associated uveitis (JIAU) and distribution of JIA categories in a Turkish JIA cohort.

Methods: This was a retrospective study of 500 randomized patients in four pediatric rheumatology clinics in Turkey.

Results: Oligoarticular JIA (oJIA) was the most common JIA disease category in this study cohort (38.8%). The frequencies of the other categories were as follows: enthesitis-related arthritis (ERA), 23.2%; rheumatoid factor (RF)-negative polyarthritis, 15.6%; systemic arthritis, 12.2%; juvenile psoriatic arthritis, 5.2%; undifferentiated arthritis, 2.8%; and RF-positive polyarthritis, 2.2%. JIA-associated uveitis was observed in 6.8% of patients at a mean (Standard Deviation, SD) age of 9.1 (3.8) years over a mean JIA disease duration of 4 (1.9) years. Uveitis developed after joint disease, with a mean (SD) duration of 1.8 (1.9) years. Patients with oJIA had the highest rate of uveitis (12.9%) followed by patients with ERA (5.2%) and polyarticular RF-negative disease (3.8%). Compared with persistent oJIA, the extended oJIA category had a > 3-fold higher risk of uveitis (11.3% vs 27.7%; odds ratio, 3.38 [95% Confidence Interval, 1.09-10.4]). The most frequently administered drug after development of uveitis was tumor necrosis factor-alpha inhibitors (38.2%). Five patients (14.7%) had uveitis-related complications that required surgical intervention.

Conclusions: Turkish pediatric patients with JIA experience a lower frequency of oJIA and higher frequency of ERA than their white European counterparts; the occurrence of uveitis is also somewhat lower than expected. Geographic and ethnic factors may affect these differences and need further investigation.
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http://dx.doi.org/10.1186/s12969-021-00613-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8383412PMC
August 2021

Validity and reliability of "Shriners Hospital for Children Upper Extremity Evaluation" in children with rheumatic diseases.

Clin Rheumatol 2021 Aug 5. Epub 2021 Aug 5.

Cerrahpasa Medical School, Department of Pediatric Rheumatology, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Introduction/objectives: The aim of this study was to investigate the validity and reliability of "Shriners Hospital for Children Upper Extremity Evaluation (SHUEE)" for children with rheumatic diseases.

Methods: The study was carried out after obtaining the necessary permissions and retrospectively registered. The psychometric properties evaluated were reliability and concurrent validity. Reliability was determined by intra- and inter-observer agreement. Concurrent validity was performed using the Jebsen Taylor Hand Function Test (JTHFT), Abilhand-Rheumatoid Arthritis (Abilhand-RA), and Children Health Assessment Questionnaire (CHAQ). The validity and reliability of the evaluation were determined after the retest 1 week later.

Results: Twenty children with rheumatic diseases were participated in to study. Intraclass coefficients ranged from 0.82 to 0.97 and the intraobserver reliability for SHUEE total and subscales were considered "excellent." Interobserver reliability was considered "excellent" for the SHUUE total score, spontaneous functional analysis and dynamic positional analysis, and "moderate" for grasp-release. A moderate negative correlation was determined between Spontaneous Functional Analysis and JTHFT (r =  - 0.63; p = 0.003).

Conclusion: SHUEE is a valid and reliable evaluation for children with rheumatic diseases. ClinicalTrials.org NCT04685434/21.12.2020 Key Points • SHUEE tends to be appropriate and acceptable to children with rheumatic diseases. • SHUEE can be used safely in the pediatric rheumatology group and it is beneficial in the clinical decision-making process. • SHUEE is a pioneering performance test that evaluates the quality of movement in pediatric rheumatology on a joint basis.
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http://dx.doi.org/10.1007/s10067-021-05866-6DOI Listing
August 2021

Caregiver burden and related factors in caregivers of patients with childhood-onset systemic lupus erythematosus.

Clin Rheumatol 2021 Aug 3. Epub 2021 Aug 3.

Department of Pediatric Rheumatology, Medical Faculty of Cerrahpasa, Istanbul University, Istanbul, Turkey.

Objective: Having a child with a chronic illness is a source of stress for the whole family, especially the primary caregiver. The aim of this study was to evaluate the associations between caregiver burden and both the caregiver's and child's psychological symptoms in a cohort of children with systemic lupus erythematosus (SLE).

Methods: Thirty-four patients (aged 9-18 years) with childhood-onset SLE and their caregivers participated in this study. The control group was composed of healthy children and their caregivers. Questionnaires were used to evaluate caregiver burden and the psychological status of parents and children and adolescents with and without SLE.

Results: No significant difference was found between the study and control groups for caregiver burden, anxiety and depression in parents, and psychological status in children. Caregiver burden was positively correlated with parent's depression, anxiety, and behavioral and peer problems of the children, and it was negatively correlated with the children's prosocial behaviors. According to regression analyses, the parents' depression and children's peer relationship had a positive effect on caregiver burden scores.

Conclusion: Physicians should be aware of the presence of psychological symptoms in patients with childhood-onset SLE and their caregivers because it can affect caregiver burden and the caregiver's psychological state. Key points •Caregiver burden was positively correlated with parent's depression and anxiety. •Caregiver burden was positively correlated with children's behavioral and peer problems. •Caregiver burden was negatively correlated with child's prosocial behaviors.
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http://dx.doi.org/10.1007/s10067-021-05867-5DOI Listing
August 2021

International Consensus For The Dosing Of Corticosteroids In Childhood-Onset Systemic Lupus Erythematosus With Proliferative Lupus Nephritis.

Arthritis Rheumatol 2021 Jul 19. Epub 2021 Jul 19.

Department of Pediatrics, Sao Paulo State University (UNESP), Botucatu, Brazil.

Objective: To develop a Standardized Steroid dosing Regimen (SSR) by physicians treating childhood-onset systemic lupus erythematosus (cSLE) complicated by lupus nephritis (LN), using consensus formation methodology.

Methods: Parameters influencing corticosteroid (CS) dosing were identified (Step-1). Data from children with proliferative LN were used to generate Patient Profiles (PP) (Step-2). Physicians rated change in activity of renal and extra-renal cSLE between two consecutive visits and proposed CS dosing (Step-3). Using PP ratings, the SSR was developed (Step-4) with refinements achieved in a physician focus group (Step-5). A second type of PP describing cSLE course for ≥4 months since kidney biopsy were rated to validate the SSR-recommended oral and intravenous CS-dosages (Step-6). PP adjudication was based on majority ratings for both renal and extra-renal disease courses, and consensus level was set at 80%.

Results: Degree of proteinuria, estimated glomerular filtration rate, change in renal and extra-renal disease activity, and time since kidney biopsy influenced CS dosing (Steps-1/2). Considering these parameters in 5,056 PP-ratings from 103 raters, and renal and extra-renal course definitions, CS-dosing rules of the SSR were developed (Steps-3-5). Validation of the SSR for up to 6 months post kidney biopsy was achieved with 1,838 PP-ratings from 60 raters who achieved consensus for oral and intravenous CS dosage as per the SSR (Step-6).

Conclusion: The SSR represents an international consensus on CS dosing for use in patients with cSLE and proliferative LN. The SSR is anticipated to be used for clinical care and standardize CS-dosage during clinical trials.
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http://dx.doi.org/10.1002/art.41930DOI Listing
July 2021

Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders.

Front Immunol 2021 9;12:666273. Epub 2021 Jun 9.

Department of Paediatrics, Division of Paediatric Rheumatology, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON, Canada.

Background: During the last decade, remarkable progress with massive sequencing has been made in the identification of disease-associated genes for AIDs using next-generation sequencing technologies (NGS). An international group of experts described the ideal genetic screening method which should give information about SNVs, InDels, Copy Number Variations (CNVs), GC rich regions. We aimed to develop and validate a molecular diagnostic method in conjunction with the NGS platform as an inexpensive, extended and uniform coverage and fast screening tool which consists of nine genes known to be associated with various AIDs.

Methods: For the validation of basic and expanded panels, long-range multiplex models were setup on healthy samples without any known variations for MEFV, MVK, TNFRSF1A, NLRP3, PSTPIP1, IL1RN, NOD2, NLRP12 and LPIN2 genes. Patients with AIDs who had already known causative variants in these genes were sequenced for analytical validation. As a last step, multiplex models were validated on patients with pre-diagnosis of AIDs. All sequencing steps were performed on the Illumina NGS platform. Validity steps included the selection of related candidate genes, primer design, development of screening methods, validation and verification of the product. The GDPE (Gentera) bioinformatics pipeline was followed.

Results: Although there was no nonsynonymous variation in 21 healthy samples, 107 synonymous variant alleles and some intronic and UTR variants were detected. In 10 patients who underwent analytical validation, besides the 11 known nonsynonymous variant alleles, 11 additional nonsynonymous variant alleles and a total of 81 synonymous variants were found. In the clinical validation phase, 46 patients sequenced with multiplex panels, genetic and clinical findings were combined for diagnosis.

Conclusion: In this study, we describe the development and validation of an NGS-based multiplex array enabling the "long-amplicon" approach for targeted sequencing of nine genes associated with common AIDs. This screening tool is less expensive and more comprehensive compared to other methods and more informative than traditional sequencing. The proposed panel offers advantages to WES or hybridization probe equivalents in terms of CNV analysis, high sensitivity and uniformity, GC-rich region sequencing, InDel detection and intron covering.
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http://dx.doi.org/10.3389/fimmu.2021.666273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8219981PMC
June 2021

Phase IIa Global Study Evaluating Rituximab for the Treatment of Pediatric Patients With Granulomatosis With Polyangiitis or Microscopic Polyangiitis.

Arthritis Rheumatol 2021 Jun 23. Epub 2021 Jun 23.

Roche Products Ltd, Welwyn Garden City, UK.

Objective: To assess safety, tolerability, pharmacokinetics, and efficacy of rituximab in pediatric patients with granulomatosis with polyangiitis (GPA) or microscopic polyangiitis (MPA).

Methods: PePRS (Pediatric Polyangiitis Rituximab Study) was a Phase IIa, international, open-label, single-arm study. During the initial 6-month remission induction phase, patients received 4 weekly intravenous rituximab infusions (MabThera/Rituxan ), 375 mg/m body surface area (BSA), and glucocorticoids. During the follow-up period, patients could receive further treatment, including rituximab, for GPA/MPA. Safety, pharmacokinetics, pharmacodynamics, and exploratory efficacy outcomes were evaluated.

Results: Eleven centers enrolled 25 new-onset or relapsing patients (GPA, 19 [76%]; MPA, 6 [24%]). The median (range) age was 14 (6-17) years. All patients completed the remission induction phase. During the overall study period (≤ 4.5 years), patients received between 4 and 28 infusions of rituximab. All patients experienced ≥ 1 adverse event, mostly Grade 1/2 and primarily infusion-related reactions; 7 patients had 10 serious adverse events and 17 had 31 infection AEs. No deaths were reported. Rituximab clearance correlated with BSA; the BSA-adjusted rituximab dosing regimen resulted in similar exposure in pediatric and adult patients with GPA/MPA. Remission, based on the Pediatric Vasculitis Activity Score, was achieved by 56%, 92%, and 100% of patients by Months 6, 12, and 18, respectively.

Conclusion: In pediatric patients, rituximab was well tolerated and effective with an overall safety profile comparable with that of rituximab-treated adult patients with GPA or MPA. Rituximab was associated with a positive benefit-risk profile for use in pediatric patients with active GPA or MPA.
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http://dx.doi.org/10.1002/art.41901DOI Listing
June 2021

Juvenile spondyloartropathies.

Eur J Rheumatol 2021 May 24. Epub 2021 May 24.

Department of Pediatric Rheumatology, İstanbul University-Cerrahpaşa School of Medicine, İstanbul, Turkey.

Juvenile spondyloarthropathies (JSpA) are defined as a heterogeneous group of diseases that start before the age of 16, which is associated with peripheral joint (especially large joints of the lower limbs) and axial skeletal (spine and sacroiliac joint) involvement, enthesitis, and human leukocyte antigen (HLA) B27 positivity. Juvenile spondyloarthropathies mainly cover juvenile ankylosing spondylitis (JAS), psoriatic arthritis, reactive arthritis, inflammatory bowel disease-associated arthritis, seronegative enthesopathy, arthropathy syndrome (SEA), and enthesitis-associated arthritis. Symptoms associated with spondyloarthropathies are enthesitis, inflammatory low back pain, dactylitis, nail changes, psoriasis, acute anterior uveitis, and inflammatory bowel disease-related symptoms. In JSpA, axial involvement is rarely seen in the early stages of the disease, in contrast to adult patients with ankylosing spondylitis (AS). The disease usually begins as asymmetric oligoarthritis of lower extremities in children, and axial skeletal involvement can occur in the course of the disease. Although the debate on the classification of juvenile spondyloarthropathies continues due to its initial nonspecific findings and the heterogeneity of the disease phenotype, the International League of Associations Rheumatology (ILAR) classification criteria are the most commonly used pediatric criteria. In that set of criteria, patients with JSpA are mainly classified under enthesitis-related arthritis or psoriatic arthritis group. Since juvenile spondyloarthropathies can cause severe loss of function and long-term sequelae, the main goal in treatment should be suppression of inflammation as early as possible and prevent sequelae.
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http://dx.doi.org/10.5152/eurjrheum.2021.20235DOI Listing
May 2021

Clinical features and outcomes of 76 patients with COVID-19-related multi-system inflammatory syndrome in children.

Clin Rheumatol 2021 Oct 5;40(10):4167-4178. Epub 2021 Jun 5.

Department of Pediatric Rheumatology, Istanbul University-Cerrahpasa Cerrahpasa Medical School, Istanbul, Turkey.

Objectives: Multi-system inflammatory syndrome in children (MIS-C) is a less understood and a rare complication of coronavirus disease-2019 (COVID-19). Given the scarce data regarding this novel disease, we aimed to describe the clinical features and outcomes of our patients with MIS-C and to evaluate the associated factors for the pediatric intensive care unit (PICU) admission.

Methods: The MIS-C patients under 18 years old diagnosed and treated in three referral centers between July 2020 and March 2021 were included. Data of the patients were retrospectively obtained from their medical records.

Results: Overall, 76 subjects (24 females) with a mean age of 8.17 ± 4.42 years were enrolled. Twenty-seven (35.5%) patients were admitted to the PICUs. The two most common systemic involvement patterns were cardiac and gastrointestinal. There was only one lethal outcome in a patient with underlying acute lymphoblastic leukemia. Those with higher procalcitonin levels at admission were found to stay longer in the hospital (r = 0.254, p = 0.027). The risk of PICU admission increased with age (aOR: 1.277; 95% CI: 1.089-1.498; p = 0.003) and with decreased initial serum albumin levels (aOR: 0.105; 95% CI: 0.029-0.378; p = 0.001).

Conclusion: Although there is a wide clinical variability among the patients with MIS-C, we suggest that those with older age and lower initial serum albumin levels merit close monitoring due to their higher risk for PICU admission. Key Points • Although there is a wide variability regarding the management process among clinicians, MIS-C is a rare, severe, less understood complication of COVID-19 that may cause rapid clinical deterioration in the patients. • Clinicians should be aware of this condition in children with persistent fever and a family history of COVID-19. • Older age and low serum albumin levels are the independent predictors for the pediatric intensive care unit admission among MIS-C patients.
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http://dx.doi.org/10.1007/s10067-021-05780-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8178032PMC
October 2021

Biologics in juvenile idiopathic arthritis-main advantages and major challenges: A narrative review.

Arch Rheumatol 2021 Mar 25;36(1):146-157. Epub 2020 Jun 25.

Department of Pediatrics, Division of Pediatric Rheumatology, Istanbul University-Cerrahpasa, Cerrahpasa Medical School, Istanbul, Turkey.

Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in childhood. The disease is divided in different subtypes based on main clinical features and disease course. Emergence of biological agents targeting specific pro-inflammatory cytokines responsible for the disease pathogenesis represents the revolution in the JIA treatment. Discovery and widespread usage of biological agents have led to significant improvement in JIA patients' treatment, with evidently increased functionality and decreased disease sequel. Increased risk of infections remains the main discussion topic for years. Despite the slightly increased frequency of upper respiratory tract infections reported in some studies, the general safety of drugs is acceptable with rare reports of severe adverse effects (SAEs). Tuberculosis (TBC) represents the important threat in regions with increased TBC prevalence. Therefore, routine screening for TBC should not be neglected when prescribing and during the follow-up of biological treatment. Malignancy represents a hypothetical complication that sometimes causes hesitations for physicians and patients in its prescription and usage. On the other hand, current reports from the literature do not support the increased risk for malignancy among JIA patients treated with biological agents. A multidisciplinary approach including a pediatric rheumatologist and an infectious disease specialist is mandatory in the follow- up of JIA patients. Although the efficacy and safety of biological agents have been proven in different studies, there is still a need for long-term, multicentric evaluation providing relevant data.
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http://dx.doi.org/10.46497/ArchRheumatol.2021.7953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8140868PMC
March 2021

A recently explored aspect of the iceberg named COVID-19: multisystem inflammatory syndrome in children (MIS-C).

Turk Arch Pediatr 2021 Jan 1;56(1):3-9. Epub 2021 Jan 1.

Department of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey.

Humanity has recently gained a novel foe named coronavirus disease 2019. Although data so far mostly suggest that children are more likely to have a favorable disease course, new concerns have been raised because of recently reported pediatric cases with hyperinflammatory conditions resembling Kawasaki disease, toxic shock syndrome, and macrophage activation syndrome/hemophagocytic lymphohistiocytosis. Because the increasing evidence suggests that this recent hyperinflammatory condition emerged in the coronavirus disease 2019 era is a distinct clinical picture, the Centers for Disease Control and Prevention named this novel disease multisystem inflammatory syndrome in children. Even if this novel disease is rare, it seems to be highly fatal. Therefore, it is urgent to understand the pathogenesis of the disease to be able to establish the appropriate treatment regimes. Concerns regarding the diagnostic process and the management of the disease have been raised even among pediatricians. Therefore, we aimed to clarify this newly occurring enigma based on the current literature and our clinical insights.
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http://dx.doi.org/10.5152/TurkArchPediatr.2020.20245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8114613PMC
January 2021

SARS-CoV-2 infection in children and the Turkish Archives of Pediatrics.

Turk Arch Pediatr 2021 Jan 1;56(1):1-2. Epub 2021 Jan 1.

Department of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey.

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http://dx.doi.org/10.5152/TurkArchPediatr.2020.231220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8114603PMC
January 2021

Thrombotic Microangiopathy Associated with Macrophage Activation Syndrome: A Multinational Study of 23 Patients.

J Pediatr 2021 Aug 7;235:196-202. Epub 2021 Apr 7.

IRCCS Istituto Giannina Gaslini, Genoa, Italy; Università degli Studi di Genova, Genoa, Italy; Sechenov First Moscow State Medical University, Moscow, Russian Federation.

Objective: To describe the clinical characteristics, treatment, and outcomes of a multinational cohort of patients with macrophage activation syndrome (MAS) and thrombotic microangiopathy (TMA).

Study Design: International pediatric rheumatologists were asked to collect retrospectively the data of patients with the co-occurrence of MAS and TMA. Clinical and laboratory features of patients with systemic juvenile idiopathic arthritis (sJIA)-associated MAS and TMA were compared with those of an historical cohort of patients with sJIA and MAS.

Results: Twenty-three patients with MAS and TMA were enrolled: 17 had sJIA, 2 systemic lupus erythematosus, 1 juvenile dermatomyositis, 1 mixed connective tissue disease, and 2 undifferentiated connective tissue disease. Compared with the historical cohort of MAS, patients with sJIA with coexistent MAS and TMA had higher frequencies of renal failure and neurologic involvement, hemorrhage, jaundice, and respiratory symptoms, as well as more severe anemia and thrombocytopenia, higher levels of alanine aminotransferase, lactate dehydrogenase, bilirubin and D-dimer, and lower levels of albumin and fibrinogen. They also required admission to the intensive care unit more frequently. Among patients tested, complement abnormalities and reduced ADAMTS13 activity were observed in 64.3% and 44.4% of cases, respectively. All patients received glucocorticoids. Treatment for TMA included plasma-exchange, eculizumab, and rituximab.

Conclusions: The possible coexistence of MAS and TMA in rheumatic diseases may be underrecognized. This association should be considered in patients with MAS who develop disproportionate anemia, thrombocytopenia, and lactate dehydrogenase increase, or have multiorgan failure.
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http://dx.doi.org/10.1016/j.jpeds.2021.04.004DOI Listing
August 2021

Differences sustained between diffuse and limited forms of juvenile systemic sclerosis in expanded international cohort. www.juvenile-scleroderma.com.

Arthritis Care Res (Hoboken) 2021 Mar 30. Epub 2021 Mar 30.

Hospital Universitário Clementino Fraga Filho (HUCFF), Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.

Objectives: To evaluate the baseline clinical characteristics of juvenile systemic sclerosis (jSSc) patients in the international Juvenile SSc Inception Cohort (jSScC), compare these characteristics between the classically defined diffuse (dcjSSc) and limited cutaneous (lcjSSc) subtypes, and among those with overlap features.

Methods: A cross-sectional study was performed using baseline visit data. Demographic, organ system evaluation, treatment, and patient and physician reported outcomes were extracted and summary statistics applied. Comparisons between dcjSSc and lcSSc subtypes and patients with and without overlap features were performed using Chi-square and Mann Whitney U-tests.

Results: At data extraction 150 jSSc patients were enrolled across 42 centers, 83% were Caucasian, 80% female, dcjSSc predominated (72%), and 17% of the cohort had overlap features. Significant differences were found between dcjSSc and lcjSSc regarding the modified Rodnan Skin Score, presence of Gottron's papules, digital tip ulceration, 6 Minute walk test, composite pulmonary and cardiac involvement. All more frequent in dcSSc except for cardiac involvement. DcjSSc patients had significantly worse scores for physician rated disease activity and damage. A significantly higher occurrence of Gottron's papules, musculoskeletal involvement and composite pulmonary involvement, and significantly lower frequency of Raynaud's phenomenon, were seen in those with overlap features.

Conclusion: Results from a large international jSSc cohort demonstrate significant differences between dcjSSc and lcjSSc patients including more globally severe disease and increased frequency of ILD in dcjSSc patients, while those with lcSSc have more frequent cardiac involvement. Those with overlap features had an unexpected higher frequency of interstitial lung disease.
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http://dx.doi.org/10.1002/acr.24609DOI Listing
March 2021

Pediatric Behçet's Disease.

Front Med (Lausanne) 2021 3;8:627192. Epub 2021 Feb 3.

Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Behçet's Disease (BD) is a systemic vasculitis firstly described as a disorder causing aphthous lesion in oral and genital mucosae and uveitis. The disease has an extremely unique distribution characterized by the highest incidence in communities living along the historical Silk road. Although our understanding of the etiopathogenesis of BD has expanded over time, there are still lots of unidentified points in the underlying mechanisms of the disease. The accepted opinion in the light of the current knowledge is that various identified and/or unidentified infectious and/or environmental triggers can take a role as a trigger in individuals with genetic susceptibility. Although the disease usually develops in young adulthood, it is reported that about 15-20% of all Behçet's patients develop in childhood. Pediatric BD differs from adult BD not only with the age of onset but also in the frequency and distribution of clinical findings, disease severity and outcome. While gastrointestinal system involvement, neurological findings, arthralgia and positive family history are more common in children, genital lesions and vascular lesions are more common in adult patients. In addition, a better disease outcome with lower severity score and activity index has been reported in children. The diagnosis of the disease is made according to clinical findings. It can be challenging to diagnose the disease due to the absence of a specific diagnostic test, and the long time interval from the first finding of the disease to the full-blown disease phenotype in pediatric cases. Therefore, many classification criteria have been proposed so far. The widely accepted ones are proposed by the International Study Group. The new sets of classification criteria which is the only one for pediatric BD were also developed for pediatric cases by the PEDBD group. The primary goal for the treatment is preventing the organ damages by suppressing the ongoing inflammation and forestalling the disease flares. The treatment of the BD can be onerous due to its multisystemic nature and a multidisciplinary approach is essential for the management of the patients. In this review article, the definition, clinical findings, epidemiology, etiopathogenesis, and treatment will be discussed.
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http://dx.doi.org/10.3389/fmed.2021.627192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7886701PMC
February 2021

Psychosocial and clinical effects of the COVID-19 pandemic in patients with childhood rheumatic diseases and their parents.

Rheumatol Int 2021 03 27;41(3):575-583. Epub 2021 Jan 27.

Department of Pediatric Rheumatology, Medical Faculty of Cerrahpasa, Istanbul University-Cerrahpasa, Istanbul, Turkey.

This study aimed to evaluate the psychological symptoms of children and adolescents with rheumatological diseases (RD) and their parents during the outbreak. A web-based questionnaire survey was conducted in a cross-sectional design in RD patients and healthy controls. The Hospital Anxiety and Depression Scale was used to evaluate parental psychiatric status; while the State-Trait Anxiety Inventory for Child was used for children. Four hundred and fifty-nine patients with RD and their parents completed the present study, as well as 336 healthy peers. The age and gender of the children were similar across groups. Under 12 years of age, the trait anxiety of the children and the psychological symptoms of parents were similar across groups; while over 13 years of age, anxiety and depression scores of the parents, as well as trait anxiety of the children were higher than the control groups' (7.3 ± 3.4 vs 6.3 ± 3.8, p = 0.006 for parental anxiety; 6.6 ± 3.8 vs. 5.3 ± 3.9, p < 0.001 for parental depression; 36.1 ± 8.7 vs. 33.3 ± 7.9, p = 0.002 for child trait anxiety). In patient group, there were no differences in scale scores according to variables such as rheumatological disease diagnosis, the consulting of doctor for treatment, thinking that RD increases the risk of COVID-19, the history of rheumatic disease attack during the pandemic process, and the use of biological agents. The children's trait anxiety was positively correlated with their parents' anxiety (r = 0.414, p < 0.001) and depression (r = 0.300, p < 0.001) scores. These findings suggest that clinicians should pay attention to the psychiatric symptoms of both children with RD and their parents during the pandemic.
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http://dx.doi.org/10.1007/s00296-021-04790-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839623PMC
March 2021

Science and pseudoscience during the COVID-19 pandemic.

Turk Pediatri Ars 2020 16;55(4):335-336. Epub 2020 Dec 16.

Department of Pediatrics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey.

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http://dx.doi.org/10.14744/TurkPediatriArs.2020.35902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750353PMC
December 2020

Anti-nuclear antibody testing in children: How much is really necessary?

Pediatr Int 2021 Sep 14;63(9):1020-1025. Epub 2021 Jul 14.

Department of Pediatric Rheumatology, Istanbul University-Cerrahpasa Cerrahpasa Medical School, Istanbul, Turkey.

Background: Anti-nuclear antibody (ANA) testing is most commonly ordered by general pediatricians to evaluate children with musculoskeletal system complaints. Given the limited utility of the test, we aimed to estimate the effectiveness of ordering ANA testing in childhood.

Methods: Children referred to our department to be examined due to positive ANA findings between 2008 and 2020 were included in the study. Those with less than one-year follow-up period, those with previously known rheumatic or autoimmune disease, and those diagnosed as an autoimmune and/or rheumatic disease at the first visit were excluded. Data were obtained from their medical records, retrospectively. The parents of all of the patients were called via phone, data were verified, and missing information was collected.

Results: Three hundred and fifty-eight patients (230 females) were eligible for the study. The median age of positive ANA findings was 9.31 (1.3-17.86) years and the median follow-up duration was 4.85 (1-11.91) years. Most of the patients had no underlying disease (n = 337, 94.1%). The most common reason for ordering ANA testing was to evaluate musculoskeletal system symptoms (n = 225, 62.8%). None of our patients referred to us due to positive ANA findings developed any autoimmune conditions or ANA associated rheumatic disease. Hypermobility syndrome is the most common final diagnosis among our ANA-positive patients.

Conclusion: We suggest that instead of using it as a screening tool, ANA testing should be performed only if there is a strong suspicion of autoimmune diseases or certain rheumatic conditions, such as systemic lupus erythematosus.
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http://dx.doi.org/10.1111/ped.14592DOI Listing
September 2021

Childhood-onset versus adult-onset Takayasu arteritis: A study of 141 patients from Turkey.

Semin Arthritis Rheum 2021 02 29;51(1):192-197. Epub 2020 Dec 29.

Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology, Marmara University, Istanbul, Turkey. Electronic address:

Aim: To compare childhood-onset (c-TAK) versus adult-onset Takayasu arteritis (a-TAK) patients for vascular involvement, disease activity, damage, and treatment.

Methods: Patient charts from two tertiary-care centers of a pediatric and adult rheumatology clinic were reviewed. Adult patients diagnosed before the age of 18 years were included in the childhood-onset group. The activity was assessed with the physician's global assessment (PGA) and Indian Takayasu Clinical Activity Score (ITAS). The damage was evaluated with Takayasu Arteritis Damage Score (TADS) and Vasculitis Damage Index (VDI).

Results: Twenty-four c-TAK (follow-up duration: 53 months) and 117 a-TAK patients (follow-up duration: 68 months) were analyzed. Aorta involvement was more prevalent (79% vs. 33%), and the median PGA score was higher in the c-TAK group (9 vs. 7), whereas the mean Indian Takayasu Arteritis Score was similar (14 vs. 13) among both groups. Median VDI score was lower for c-TAK patients (4 vs. 5), whereas TADS was similar for children and adults (8 vs. 8). Higher incidence of glucocorticoid related side-effects, a longer time to diagnosis and upper extremity claudication seemed to account for higher VDI scores in adults.

Conclusion: Aorta involvement was more common among children with TAK, whereas upper extremities were relatively spared. Biologic agents were used more commonly among children which may be explained by higher rates of aortic involvement. However, c-TAK patients did not have greater cumulative damage.
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http://dx.doi.org/10.1016/j.semarthrit.2020.10.013DOI Listing
February 2021

Could the increasing concerns regarding the post-COVID-19 symptoms cause Kawasaki disease to be under-diagnosed?

Clin Exp Rheumatol 2021 Jan-Feb;39 Suppl 128(1):21-22. Epub 2020 Dec 14.

Department of Paediatric Rheumatology, Istanbul University-Cerrahpasa, Cerrahpasa Medical School, Istanbul, Turkey.

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March 2021

Systolic and Diastolic Cardiac Functions in Juvenile Spondyloarthropathies.

J Clin Rheumatol 2020 Dec 15;Publish Ahead of Print. Epub 2020 Dec 15.

From the Departments of Pediatric Rheumatology Pediatric Cardiology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Background/objective: Juvenile spondyloarthropathies (JSpAs) are a group of inflammatory diseases characterized by asymmetric peripheral arthritis (especially in lower extremities), axial skeleton involvement, and enthesitis. Although cardiovascular findings of inflammatory diseases such as juvenile systemic lupus erythematosus (SLE) and juvenile scleroderma (SD) are well documented, there are only a few studies assessing the cardiovascular consequences of JSpA in the literature.

Methods: Forty patients with JSpA and 20 healthy controls were included into this cross-sectional study. Cardiac functions of the participants were evaluated by conventional echocardiography and pulse-wave (PW) tissue Doppler.

Results: The patients with JSpA had higher mitral lateral S (p = 0.005) and E' wave (p < 0.001), tricuspid A' wave (p = 0.03), ejection fraction (p = 0.03) and shortening fraction (p = 0.01) than the control patients. In contrast, the patients with JSpA had lower left ventricle MPI (p = 0.01) and the ratio of tricuspid E'/A' waves (p = 0.05). Patients with enthesitis detected on magnetic resonance imaging had lower ejection fraction (p = 0.05), the ratio of E/A waves (p = 0.03) and had higher Mitral lateral A' wave (p = 0.01) than those without. There was a significant inverse correlation between the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and PW transmitral A velocity (r = -0.256, p = 0.03), the BASDAI score and tricuspid annular plane systolic excursion (r = -0.301, p = 0.04), the BASDAI score and the ratio of E/E' waves (r = -0.276, p = 0.02), and the Juvenile Spondyloarthritis Disease Activity Index and PW transmitral A velocity (r = -0.246, p = 0.04).

Conclusions: In this study, we report the possible early signs of RV diastolic dysfunction and possible association between magnetic resonance imaging-confirmed enthesitis and lower LV systolic functions. Early identification of cardiac dysfunctions can help with prevention of long-term cardiovascular complications.
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http://dx.doi.org/10.1097/RHU.0000000000001674DOI Listing
December 2020

Telemedicine Applications in a Tertiary Pediatric Hospital in Turkey During COVID-19 Pandemic.

Telemed J E Health 2020 Dec 9. Epub 2020 Dec 9.

Division of Pediatric Nephrology, Department of Pediatrics, Cerrahpasa School of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.

A novel type of Coronavirus emerged at Wuhan in late 2019 involving preferentially the respiratory system. Owing to the rapid spread, almost 22 million people became infected and 700,000 died. Similar to other countries, the need for additional hospital beds and intensive care units required diversion of health care resources toward the care for those with COVID-19 in Turkey. Telemedicine appeared as a safe and low-cost alternative for the maintainability of pediatric health services during the pandemics. Within this context, we aimed to deliver the health services through telemedicine during the follow-up of chronic childhood diseases. This prospective study included five pediatric subspecialties, including allergy immunology, hematology and oncology, nephrology, rheumatology, and inborn metabolic disorders. After the interview, patients and involved physicians were requested to fill out a questionnaire designed to measure the level of satisfaction and the quality of the service we offered. Of the 263 interviews, overall patient and physician satisfaction was 99% and 87%, respectively. As results of the interviews, 250 routine visits were performed, 181 acute complaints were assessed, drug changes were made in 118 patients, 9 patients were determined to be unable to get their drugs, and 12 who misused their drugs. The main advantage of the telemedicine declared by the patients was "not to waste time for transportation." The main concerns of the participants were inability to perform physical and laboratory examinations. Consequently, we considered telemedicine as a feasible alternative not only during pandemics but also in daily practice in Turkey.
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http://dx.doi.org/10.1089/tmj.2020.0381DOI Listing
December 2020

Consensus-based recommendations for the management of juvenile systemic sclerosis.

Rheumatology (Oxford) 2021 04;60(4):1651-1658

Department of Woman's and Child's Health, University of Padova, Padua, Italy.

Juvenile systemic sclerosis (JSSc) is a rare disease of childhood and currently no international consensus exists with regard to its assessment and treatment. This SHARE (Single Hub and Access point for paediatric Rheumatology in Europe) initiative, based on expert opinion informed by the best available evidence, provides recommendations for the assessment and treatment of patients with JSSc with a view to improving their outcome. Experts focused attention not only on the skin assessment but also on the early signs of internal organ involvement whose proper treatment can significantly affect the long-term outcome. A score for disease severity is proposed in order to perform a structured assessment of outcome over time but a validation in a wider patient population is recommended. Finally, a stepwise treatment approach is proposed in order to unify the standard of care throughout Europe with the aim to reduce morbidity and mortality in this disease.
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http://dx.doi.org/10.1093/rheumatology/keaa584DOI Listing
April 2021

Under detection of interstitial lung disease in juvenile systemic sclerosis (jSSc).

Arthritis Care Res (Hoboken) 2020 Nov 3. Epub 2020 Nov 3.

Meyer Children's Hospital, Florence, Italy.

Objectives: Utilizing data obtained from a prospective international juvenile systemic sclerosis cohort (jSScC) to determine if pulmonary screening with forced vital capacity (FVC) and diffusing capacity of the lungs for carbon monoxide (DLCO) is sufficient to assess the presence of interstitial lung disease (ILD) in comparison to high resolution computed tomography (HRCT) in jSSc.

Methods: The jSScC cohort database was queried for patients enrolled from January 2008 to January 2020 with recorded pulmonary function tests (PFT) parameters and HRCT to determine the discriminatory properties of PFTs parameters, FVC and DLCO, in detecting ILD.

Results: Eighty-six jSSc patients had both CT imaging and FVC values for direct comparison. Using findings on HRCT as the standard measure of ILD presence, the sensitivity of FVC in detecting ILD in jSSc was only 40%, the specificity was 77%, and AUC was 0.58. Fifty-eight jSSc patients had both CT imaging and DLCO values for comparison. The sensitivity of DLCO in detecting ILD was 76%, the specificity was 70%, and AUC was 0.73.

Conclusion: The performance of PFTs in jSSc to detect underlying ILD was quite limited. Specifically, the FVC, which is one of the main clinical parameters in adult SSc to detect and monitor ILD, would miss approximately 60% of children that had ILD changes on their accompanying HRCT. The DLCO was more sensitive in detecting potential abnormalities in HRCT, but with less specificity than the FVC. These results support the use of HRCT in tandem with PFTs for the screening of ILD in jSSc.
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http://dx.doi.org/10.1002/acr.24499DOI Listing
November 2020

The frequency and clinical course of COVID-19 infection in children with juvenile idiopathic arthritis.

Clin Exp Rheumatol 2020 Nov-Dec;38(6):1271-1272. Epub 2020 Oct 18.

Istanbul University-Cerrahpasa, Cerrahpasa Medical School, Department of Paediatric Rheumatology, Istanbul, Turkey.

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December 2020

Tocilizumab therapy in juvenile systemic sclerosis: a retrospective single centre pilot study.

Rheumatol Int 2021 Jan 27;41(1):121-128. Epub 2020 Oct 27.

Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.

To evaluate the efficacy and safety of anti-interleukin (IL)-6 receptor antibody tocilizumab (TCZ) as a treatment option of juvenile systemic sclerosis (JSS). Nine JSS patients were assigned to a TCZ, additionally to conventional treatment (steroids, methotrexate, mycophenolate-mofetil). The modified Rodnan skin score (mRSS), carbon-monoxide diffusion capacity (DLCO), thorax high-resolution tomography (HRCT), patient global assessment (PGA) and Juvenile Systemic Sclerosis Severity (J4S) score were used to explore the efficacy of treatment. Nine JSS patients were treated with TCZ with a median treatment duration of 10 (1-21) months. Nine patients (77.8%) had radiologically confirmed improvement on thorax HRCT, 7 (77.8%) had decreased PGA (mean pre-treatment PGA 3.7 vs. 2.3 post-treatment PGA 2), 6 (66.7%) had increased DLCO (mean pre-treatment DLCO 69.14% vs. post-treatment DLCO 79.50%) after the TCZ treatment. In all patients mRSS and the J4S decreased: 26.1 vs. 19.7 and 8.2 vs. 4.7, respectively. Changes in mRSS, DLCO, PGA and J4S were statistically significant: p = 0.012, 0.04, 0.026 and 0.007, respectively. All patients tolerated well TCZ treatment. JSS is a rare condition characterized with skin fibrosis and internal organ involvement. Tocilizumab represents a potential treatment option for patients unresponsive to conventional treatment. Long-term prospective studies with higher number of patients are needed to provide more relevant data.
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http://dx.doi.org/10.1007/s00296-020-04732-zDOI Listing
January 2021

Independent risk factors for resolution of periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome within 4 years after the disease onset.

Clin Rheumatol 2021 May 16;40(5):1959-1965. Epub 2020 Oct 16.

Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Background/objective: Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is a polygenic disease with unknown etiology. In this retrospective cohort study, we aimed to evaluate the risk factors for the resolution of PFAPA syndrome within 4 years after the onset.

Methods: In total, 466 patients with PFAPA syndrome that are being followed up our department were included into the study. Between May 2020 and September 2020, medical charts of the patients were reviewed retrospectively.

Results: The median age of the patients at the time of the study and at disease onset were 8.6 (2.9-20.5; IQR 6.9-10.6) years and 18 (1-84; IQR 11-31) months. On univariate analysis age at disease onset (p = 0.003), positive family history of PFAPA syndrome (p = 0.04), absence of myalgia (p = 0.04), and absence of headache (p = 0.003) were all associated with the resolution of PFAPA syndrome within 4 years after the onset. Multivariate logistic regression analysis revealed that age at disease onset (OR 1.04, 95% CI 1.01-1.07, p = 0.002), positive family history of PFAPA syndrome (OR 2.69, 95% CI 1.12-6.48, p = 0.02), and absence of headache (OR 0.2, 95% CI 0.05-0.74, p = 0.01) were independent risk factors for the resolution of PFAPA syndrome within 4 years after the onset.

Conclusion: We report later age of disease onset, positive family history of PFAPA syndrome, and absence of headache as independent risk factors for resolution of PFAPA syndrome within 4 years after the onset.

Key Points: • Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is a multifactorial disease with unknown etiology. • Although, PFAPA syndrome usually resolves within 3-5 years after the disease onset, it can persist for years and even continue into adulthood. With our current knowledge, there is no clue to predict which patients will have a long disease course and which patients will not. • Later age of disease onset, positive family history of PFAPA syndrome and absence of headache as independent risk factors for resolution of PFAPA syndrome within 4 years after the onset.
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http://dx.doi.org/10.1007/s10067-020-05466-wDOI Listing
May 2021

Scientific researches and academic publishing during the coronavirus pandemic.

Turk Pediatri Ars 2020 23;55(3):213-214. Epub 2020 Sep 23.

Division of Pediatric Rheumatology, Department of Pediatrics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey.

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http://dx.doi.org/10.14744/TurkPediatriArs.2020.78785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536467PMC
September 2020

The role of Mediterranean fever gene variants in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.

Eur J Pediatr 2021 Apr 13;180(4):1051-1058. Epub 2020 Oct 13.

Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.

This study was conducted to investigate the relationship between clinic features and Mediterranean fever gene (MEFV) variants in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. In total, 167 patients with PFAPA syndrome were included in the study. Female:male ratio of the patients was 0.75 (72 females, 95 males). In total 59.9% of patients with PFAPA had at least one MEFV variant and the most common heterozygous variants were M694V in 29.3% of the patients (40/167), E148Q in 8.3% (14/167), and V726A in 7.1% (12/167). The median age at the disease onset was significantly higher and the median duration of the episodes was significantly lower in patient with variants in exon 10 comparing to the others (both p = 0.01). Similarly, the median age at the disease onset was significantly higher (p = 0.01) and the median duration of the episodes was significantly lower (p = 0.04) in patient with MEFV variants than in the remaining patients. There were no significant differences according to the genotypes of the patients in terms of both treatment response and the frequency of clinical findings.Conclusion: In PFAPA syndrome, MEFV variants may be a modifier for disease onset and attack duration. What is Known: • Due to periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome having clinical findings resembling familial Mediterranean fever (FMF), it can be difficult to distinguish PFAPA syndrome and FMF especially in endemic regions for FMF. • Underlying MEFV mutations could affect the periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome's clinical presentation and response to treatment. What is New: • Having one of the underlying MEFV variants is related to later disease onset and shorter episode duration in patients with PFAPA syndrome.
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http://dx.doi.org/10.1007/s00431-020-03840-zDOI Listing
April 2021

Evaluation of the thyroid disorders in children with familial Mediterranean fever.

Clin Rheumatol 2021 Apr 30;40(4):1473-1478. Epub 2020 Sep 30.

Department of Pediatric Endocrinology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Although it is well-known that autoimmune thyroid diseases are more common in most of the autoimmune connective tissue diseases, the relationship between autoinflammatory diseases and autoimmune thyroid diseases has not well-evaluated yet and still remains unclear. The aim of this study was to investigate the frequency of autoimmune diseases of the thyroid gland and to evaluate thyroid function tests in children with familial Mediterranean fever. Thyroxine, thyroid-stimulating hormone, and thyroid autoimmune markers such as thyroid peroxidase and thyroglobulin antibodies, and thyroid ultrasound findings of 133 patients with familial Mediterranean fever and 70 healthy controls were evaluated. Serum levels of thyroid-stimulating hormone, free thyroxine, and thyroid autoimmunity markers were similar in patients with familial Mediterranean fever compared with healthy controls. There was no relationship between the duration of the disease and thyroid-stimulating hormone, free thyroxine, anti-thyroid peroxidase, and anti-thyroglobulin levels. This study revealed that incidence of thyroid dysfunction and autoimmunity is not increased in patients with familial Mediterranean fever. In conclusion, routine screening of serum thyroid function tests and thyroid antibody levels is not required in patients with familial Mediterranean fever in the absence of clinical symptoms or family history. Key Points • It is well-known that autoimmune thyroid diseases are common in autoimmune diseases. • The relationship between autoimmune thyroid diseases and autoinflammatory diseases like familial Mediterranean fever is still unclear. • In this study, we report the similar frequency of the autoinflammatory thyroid diseases in patients with familial Mediterranean fever and healthy controls. • A routine screening of serum thyroid function tests and thyroid antibody levels may not be required in patients with familial Mediterranean fever in the absence of clinical symptoms or family history.
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http://dx.doi.org/10.1007/s10067-020-05430-8DOI Listing
April 2021
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