Practical Approach to Diagnosis and Management of IL-1-Mediated Autoinflammatory Diseases (CAPS, TRAPS, MKD, and DIRA).

Systemic autoinflammatory diseases (SAIDs) are a group of rare genetic and nongenetic immune dysregulatory disorders associated with high morbidity and mortality if left untreated. Therefore, early diagnosis and initiation of targeted treatment is vital in SAID patients to control the disease activity and prevent long-term immune-mediated damage. A specific group of genetically defined SAIDs is associated with increased inflammasome-mediated production of active interleukin (IL)-1.

Hematologic abnormalities in Aicardi Goutières Syndrome.

Background: Because of the broad clinical spectrum, heritable autoinflammatory diseases present a management and therapeutic challenge. The most common genetic interferonopathy, Aicardi Goutières Syndrome (AGS), is associated with early onset neurologic disability and systemic inflammation. The chronic inflammation of AGS is the result of dysregulation of interferon (IFN) expression by one of nine genes within converging pathways.

Number of Episodes Can Be Used as a Disease Activity Measure in Familial Mediterranean Fever.

Objective: To evaluate the number of episodes in the past 12 months as an indicator of the overall disease activity status in Familial Mediterranean fever (FMF).

Methods: In this cross-sectional study, patients were recruited from tertiary pediatric hospitals. Demographic data, main clinical symptoms of the episodes, treatment modalities, and genetic mutations were recorded.

Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever.

The aim of the study was to compare the clinical phenotype of patients with familial Mediterranean fever (FMF)-related AA amyloidosis, according to the age of FMF diagnosis and E148Q genotype. Patients with biopsy-confirmed FMF-related AA amyloidosis were included in the study. Tel-Hashomer criteria were applied in the diagnosis of FMF.

Oral health status in children with familial Mediterranean fever.

Background: Familial Mediterranean fever (FMF) is the most common hereditary autoinflammatory disease. We aimed to investigate the oral health status and oral hygiene habits in children with FMF.

Methods: In this cross-sectional study, 199 children with FMF, aged between 3-18 years, were included.

Current State of Precision Medicine in Primary Systemic Vasculitides.

Precision medicine (PM) is an emerging data-driven health care approach that integrates phenotypic, genomic, epigenetic, and environmental factors unique to an individual. The goal of PM is to facilitate diagnosis, predict effective therapy, and avoid adverse reactions specific for each patient. The forefront of PM is in oncology; nonetheless, it is developing in other fields of medicine, including rheumatology.

Comorbidities in familial Mediterranean fever: analysis of 2000 genetically confirmed patients.

Objectives: FMF is the most common periodic fever syndrome, characterized by recurrent episodes of fever and serosal inflammation accompanied with high acute phase reactants. The analysis of possible comorbidities is important to understand the impact of these conditions on clinical care and whether they share a common aetiological pathway. In this study, we aimed to evaluate the comorbidities associated with FMF patients in a large genetically diagnosed cohort.

Severe hypersensitivity reactions to biological drugs in children with rheumatic diseases.

Background: Hypersensitivity reactions (HSR) to biologic drugs (BD) may limit their use in children with rheumatic diseases. We aimed to analyze the incidence and clinical characteristics of immediate type I (IgE/non-IgE) hypersensitivity reactions to BD and the risk factors for these reactions.

Methods: Children with rheumatic diseases using BD who were evaluated in the pediatric allergy department for possible drug hypersensitivity reaction (DHR) due to BD or any other drug were included in the study.

The factors affecting the disease course in Kawasaki disease.

The aim of this study was to review the characteristics of patients with Kawasaki disease (KD) from Turkey and to assess the performance of the Kobayashi score (KS), Harada score (HS), Formosa score (FS), Egami score (ES) and other parameters in predicting intravenous immunoglobulin (IVIG) resistance and coronary artery involvement (CAI) in the Turkish population. Patients who were diagnosed as being in the acute phase of KD at Hacettepe University Faculty of Medicine (Ankara, Turkey) between June 2007 and January 2016 reviewed retrospectively, and those between January 2016 and February 2018 reviewed prospectively, were included in this cohort study. A total of 100 patients with KD were included in this study.

Is age associated with disease severity and compliance to treatment in children with familial Mediterranean fever?

Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease in the world. The disease characteristics may vary in different age groups. In this study, we aimed to compare disease characteristics and treatment compliance according to the age of pediatric FMF patients.

A new biopsychosocial and clinical questionnaire to assess juvenile idiopathic arthritis: JAB-Q.

Objective: To create a new multidimensional questionnaire for the assessment of juvenile idiopathic arthritis (JIA) patients in standard clinical practice and study the validity and reliability of this questionnaire.

Methods: The Juvenile Arthritis Biopsychosocial and Clinical Questionnaire (JAB-Q) was created using the Delphi technique and consensus conference following an initial literature search. The questionnaire has three parts including a clinician form, child form and parent form.

Predictors of methotrexate response in Turkish children with oligoarticular and polyarticular juvenile idiopathic arthritis.

Batu ED, Sönmez HE, Gülhan B, Arıcı ZS, Topaloğlu R, Bilginer Y. Predictors of methotrexate response in Turkish children with oligoarticular and polyarticular juvenile idiopathic arthritis. Turk J Pediatr 2017; 59: 6-12.

Immunoglobulin G4-related orbital disease: report of two pediatric cases.

IgG4-related disease is a systemic fibro-inflammatory disorder mainly affecting the middle-aged and elderly population. IgG4-related orbital disease is very rare in childhood. We present here two children with IgG4-related orbital disease, one of whom responded well to prednisolone treatment while the other one was refractory to most immunosuppressive agents.

Reviewing the recommendations for lupus in children.

Systemic lupus erythematosus (SLE) is an autoimmune connective tissue disorder with severe morbidity and mortality and diverse systemic involvement. Disease onset occurs during childhood in approximately 15 % of patients with SLE. It is important to treat the attacks adequately and prevent further flares for favorable long-term outcomes.

Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification.

In order to evaluate the genetic epidemiology of deafness in Turkey, we first analyzed the pedigree data obtained from 2,169 families whose children were students of the schools for hearing loss/deafness in 31 cities of Turkey. Single major locus segregation analysis was performed after families were grouped according to hearing status of the parents. The results showed that sporadic phenocopies, autosomal dominant, and autosomal recessive transmission account for 18.