Characteristics of Siblings with Familial Mediterranean Fever: A Single-Center Experience.

Objective: Familial Mediterranean fever (FMF) is a hereditary, autoinflammatory disease. The characteristics of siblings with FMF have not been described in large cohorts up to now. This study aimed to examine the features of siblings with FMF.

Juvenile idiopathic arthritis management: insights into the utilization of intra-articular corticosteroid injections.

Background: Juvenile idiopathic arthritis (JIA) is a common chronic rheumatic disease in children, requiring careful management to reduce both short- and long-term morbidity. In this study, our objective was to assess the clinical features of patients diagnosed with JIA who received intra-articular corticosteroid injections (IACI).

Methods: In this retrospective study, we evaluated the clinical and laboratory characteristics of 225 JIA patients monitored from January 2012 to October 2023 at a tertiary care center.

Clinical Associations of E148Q Heterozygosity: What to Expect From E148Q?

Objective: The exact effects of MEFV variants on inflammation are still under investigation, and reports on variants of unknown significance, particularly the E148Q variant, have been conflicting. Therefore, this study aims to investigate patients exhibiting E148Q heterozygosity, focusing on diagnoses and disease courses to assist physicians in interpreting the variant.

Methods: Data of pediatric patients presenting to the Pediatric Rheumatology clinic between November 2016 and September 2023, exhibiting only E148Q heterozygosity in MEFV gene analysis, were extracted.

Evaluation of pediatric rheumatologists' approach to rituximab use: a questionnaire study.

Unlabelled: Rituximab (RTX) is a chimeric monoclonal antibody that targets the CD20 antigen on B cells and is used in various autoimmune disorders. In this study, we aimed to measure the awareness of pediatric rheumatologists about the use of RTX through a survey. Between February and March 2023, a 42-question survey was sent via email to pediatric rheumatology specialists in Turkey.

Using Antinuclear Antibody Testing in Pediatric Rheumatology.

The antinuclear antibody (ANA) test is frequently used for the identification of patients who are at a high risk of developing autoimmune rheumatological diseases. The aim of this study is to evaluate the final diagnoses of patients applied to the pediatric rheumatology outpatient clinic with a positive ANA test result. In this study, the medical records of 283 children who had ANA positivity between January 2010 and January 2022 were evaluated retrospectively.

Thymic carcinoma presenting with overlap polyarthritis and myositis: A rare paraneoplastic syndrome in childhood.

Thymic tumors are very rare neoplasms in children and account for less than 1% of mediastinal tumors in pediatric patients. One-third of the pediatric patients present with symptoms related to the compression of the tumor mass on the surrounding anatomic structures, and paraneoplastic syndromes such as myasthenia gravis, pure red cell aplasia, acquired hypogammaglobulinemia, and connective tissue disorders, which rarely occur in children with thymic tumors. Herein, we report a case of thymic carcinoma mimicking the symptoms of a connective tissue disease with symmetrical polyarthritis accompanying myositis, fever, weight loss, and malaise in a 15-year-old male patient.

Chest pain in children with familial Mediterranean fever.

Background: Familial Mediterranean fever (FMF) is the most common and autosomal recessive inherited autoinflammatory disease. The most common signs and symptoms are fever, abdominal pain, chest pain, and arthritis. The aim of this study was to describe the clinical, laboratory and genetic differences between pediatric FMF patients with and without chest pain.

Does age at disease onset affect the clinical presentation and outcome in children with immunoglobulin A vasculitis?

Objectives: The study aimed to determine whether there is a relationship between the age at diagnosis and the clinical, laboratory, and prognostic features in pediatric immunoglobulin A vasculitis (IgAV) patients.

Patients And Methods: In this study, 539 pediatric IgAV patients (298 males, 241 females; mean age: 7.74±3.

Portal Hypertension in Children: A Tertiary Center Experience in Turkey.

Purpose: Portal hypertension (PH) and its complications have a significant impact on morbidity and mortality. This study aimed to evaluate the etiology; clinical, laboratory, and endoscopic findings; treatment approaches; long-term outcomes; and prognosis of pediatric PH.

Methods: This retrospective study included 222 pediatric patients diagnosed with PH between 1998 and 2016, and data encompassing clinical, laboratory, and radiological features; treatments; and complications were analyzed.

The safety of canakinumab in systemic juvenile idiopathic arthritis and autoinflammatory diseases in pediatric patients: a multicenter study.

Objective: To evaluate the safety of canakinumab using real-world data in patients with systemic juvenile idiopathic arthritis (sJIA) and autoinflammatory diseases (AID).

Research Design And Methods: This was a cross-sectional observational, multicenter study. Patients diagnosed with AID and sJIA treated with canakinumab were included in the study.

Arterial Stiffness and Ambulatory Blood Pressure Measurements in Children With Familial Mediterranean Fever.

Familial Mediterranean fever (FMF) is an autoinflammatory disease which may cause endothelial dysfunction and arterial stiffness. In this study, we evaluated patients with FMF in terms of arterial stiffness indicators and investigated whether there was any difference according to colchicine response. This is a single-center, prospective, case-control study conducted on pediatric patients with FMF.

Recurrent macrophage activation syndrome due to hyperimmunoglobulin D syndrome: a case-based review.

Hyperimmunoglobulin D syndrome (HIDS) is a hereditary autoinflammatory disease characterized by recurrent inflammatory attacks with fever, abdominal pain, lymphadenopathy, aphthous stomatitis, and skin lesions. There are few reports on HIDS patients complicated with macrophage activation syndrome (MAS); however, to our knowledge, there is no case of HIDS with recurrent MAS attacks. We report two pediatric patients initially diagnosed as Kawasaki disease and systemic juvenile idiopathic arthritis presented with recurrent MAS episodes with prolonged fever, skin rash, hepatosplenomegaly, cervical lymphadenopathy, aphthous stomatitis, headache, pancytopenia, hyperferritinemia, and hypofibrinogenemia, finally diagnosed as HIDS with a documented homozygous MVK gene mutation.

Clinical features of paediatric immunoglobulin A vasculitis patients with scrotal involvement.

Objectives: Immunoglobulin (Ig) A vasculitis (IgAV), is the most common vasculitis of childhood, is a leucocytoclastic vasculitis that affects small vessels of the skin, gastrointestinal (GI) tract, joints, and kidneys. Scrotal involvement is relatively rare. In this study, we aimed to reveal the clinical and laboratory characteristics of patients with scrotal involvement in IgAV and its relationship with other clinical features of the disease.