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Background: Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by a mutation in the MEFV gene and characterized by recurrent episodes of fever and polyserositis. Objectives: This study aimed to identify the frequency and distribution of MEFV mutations in children with FMF in northeastern Iran and determine clinical examinations. Methods: Our study was a descriptive and analytical cross-sectional study conducted among 29 patients under the age of 18 who visited the pediatric rheumatologist between April 2014 and 2021. After clinical diagnosis, the patients underwent genetic evaluation. The mutations related to each patient were identified using Sanger sequencing of the entire MEFV gene sequence. The rest of the information was extracted from the checklist. Finally, the data were analyzed using SPSS v. 16. Results: Fever was the most common symptom, followed by abdominal pain. During the acute attack period, laboratory inflammatory factors increased in all patients. None of the patients had complications. There was no significant relationship between the demographic variables in the groups (benign, variant of uncertain significance [VUS], pathogen) except for the rate of hospitalization (P-value = 0.039). Moreover, 34.5% of the studied patients had pathogenic mutations. The most common mutation was E148Q, which was reported to be benign, followed by pathogenic mutations (M680I), with a frequency of 10.2%. Conclusions: The FMF is rare in Northeastern Iran, and the number of pathogenic mutations is lower compared to Northwest Iran and other studies. It is necessary to conduct a genetic examination and treatment of affected patients to control the course of the disease and its complications. [ABSTRACT FROM AUTHOR]

Background: The most common cause of coronary artery aneurysms in children is Kawasaki disease (KD). One of the risk ratings used to predict coronary artery aneurysms is the Harada score. This study aims to assess the negative predictive value (NPV) of Harada scoring in children with KD. Methods: This cross-sectional study was conducted in Mashhad (Iran) from January 2014 to December 2017. The Harada score was generated for each patient using demographic, laboratory, and echocardiography data retrieved from their medical records. The patients were divided into typical and atypical cases, and the sensitivity, specificity, positive predictive value (PPV), and NPV were calculated. The Chi square test, independent t test, Mann--Whitney U test, and Fisher exact test were used to analyze the data in SPSS software (version 23.0). P≤0.05 was considered statistically significant. Results: The study involved 168 individuals with a mean age of 29.91±19.52 months, including 103 typical and 65 atypical cases. Regarding cardiac complications, the atypical group had a significantly greater rate of coronary artery tapering (P=0.030). Out of 101 patients with cardiac complications, the Harada score was positive in 57 cases, while it was falsely negative in the remaining 44 patients. The calculated sensitivity, specificity, PPV, and NPV were 56.44%, 53.73%, 64.77%, and 45%, respectively. Conclusion: The findings revealed that the Harada scoring is ineffective in detecting coronary artery aneurysms or dilation in KD patients. [ABSTRACT FROM AUTHOR]

Background: Juvenile Rheumatoid Arthritis (JRA) is the most common chronic pediatric rheumatologic disease. There is a wide range of variation in disease subgroup distribution and evolution according to different populations, environments and genetic predisposition. This study was designed to evaluate epidemiologic characteristics of JRA in Iran. Methods: A cross-sectional studies was performed on children suffering from JRA according to American College of Rheumatology during 10 year (2002-2011). Patients' data was recorded in hospital questionnaires; Patients' age at the first presentation and time of diagnosis, sex, ethnicity, early clinical and constitutional presentations, joint involvement pattern and presence of associated diseases were evaluated. Results: In this study, 171 children (91 boys and 80 girls) were enrolled. The mean age of patients was 5.2±3.5 years at the time of presentation and 5.7±3.6 years when the diagnosis was confirmed. The most common type of disease was polyarticular arthritis (41.9%). The prevalence of pauciarticular and systemic onset subtype were 31.6% and 19.3%, respectively. According to ethnicity, the most common incidence was seen in Fars and Turk populations respectively. The most common constitutional presentation was fever. Fever and morning stiffness was significantly higher in polyarticular patients. Extra articular manifestation was seen in 40.4% patients. Among extra-articular manifestations, skin involvement was seen more than others. There was no correlation between sex and type of chronic arthritis. Uveitis was detected in 5.8% of our cases. The mean age was significantly higher in polyarticular group (6.04 year) in comparison to pauciarticular and systemic group (4.4 year in both groups) (P=0.005). There was no correlation between sex and type of chronic arthritis. Conclusion: The prevalence of JRA subgroups was different in Iran comparing with western countries and polyarticular disease was the most common subgroup in this study. Uveitis was less common in this study in comparison to studies in other countries. There is no sex predilection in each subgroup of JRA. [ABSTRACT FROM AUTHOR]