Takayasu Arteritis.

Takayasu arteritis is an idiopathic granulomatous vasculitis of the aorta and its main branches and it constitutes one of the more common vasculitides in children. Inflammation and intimal proliferation lead to wall thickening, stenotic or occlusive lesions, and thrombosis, while destruction of the elastica and muscularis layers originates aneurysms and dissection. Carotid artery tenderness, claudication, ocular disturbances, central nervous system abnormalities, and weakening of pulses are the most frequent clinical features.

[Autoinflammatory diseases].

The monogenic autoinflammatory diseases are rare, genetic disorders resulting in constitutive innate immune defects leading to excessive response to danger signals, spontaneous activation of inflammatory mediators or loss of inhibitory regulators. During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system.

Monogenic autoinflammatory diseases.

During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system. Diagnosis remains clinical, with genetic confirmation where feasible.

Efficacy and safety of canakinumab therapy in paediatric patients with cryopyrin-associated periodic syndrome: a single-centre, real-world experience.

Objective: The aim of this study was to determine the short- and long-term efficacy and safety of 8-weekly canakinumab therapy in children with cryopyrin-associated periodic syndromes (CAPS) in routine clinical practice.

Methods: A single-centre observational study was performed. Patients were assessed every 8 weeks at a dedicated clinic.

Patients with very early-onset systemic juvenile idiopathic arthritis exhibit more inflammatory features and a worse outcome.

Objective: Systemic juvenile idiopathic arthritis (SJIA) frequently leads to disability and damage. Predictive factors for a poor outcome include persistent systemic features and younger age at onset. We describe and analyze disease features in patients with early-onset (EO) SJIA (disease onset before age 18 mo) and compare them to patients with later-onset (LO) disease.

Clinical remission in patients with systemic juvenile idiopathic arthritis treated with anti-tumor necrosis factor agents.

Objective: To assess the frequency of clinical remission in a cohort of patients with systemic juvenile idiopathic arthritis (JIA) who received continuous anti-tumor necrosis factor (TNF) therapy; and to identify potential predictors of remission.

Methods: Patients with systemic JIA who were treated with anti-TNF agents for > 6 months were studied. Demographic and nosologic variables recorded at the start of anti-TNF therapy were analyzed.

Use of adalimumab in patients with juvenile idiopathic arthritis refractory to etanercept and/or infliximab.

To analyse the effectiveness and safety of adalimumab in a group of patients with juvenile idiopathic arthritis (JIA) who had failed treatment with etanercept and/or infliximab in a single paediatric rheumatology clinic. Patients with JIA with active polyarthritis refractory to metotrexate (MTX) (> or =20 mg/m2/week) for at least 3 months and to etanercept (up to 1 mg/kg twice weekly) and/or infliximab (up to 10 mg/kg every 4 weeks) for at least 6 months were included. All patients received adalimumab 24 mg/m2/week concomitantly with MTX 7.

Global damage in systemic juvenile idiopathic arthritis: preliminary early predictors.

Objective: To assess damage in systemic juvenile idiopathic arthritis (sJIA) by the use of the Juvenile Arthritis Damage Index (JADI) and to identify early predictors of global, articular, and extraarticular damage.

Methods: Forty-seven consecutive patients with sJIA with a disease duration > 24 months were assessed for damage in a cross-sectional evaluation. The JADI was administered by 2 pediatric rheumatologists.

Hepatitis A-associated macrophage activation syndrome in children with systemic juvenile idiopathic arthritis: report of 2 cases.

We describe two 3-year-old patients with systemic juvenile idiopathic arthritis (SJIA) who developed hepatitis A-associated macrophage activation syndrome (MAS). One patient showed MAS as the presenting manifestation of SJIA, while MAS complicated SJIA during the second year of the disease course in the other child. Both girls presented with fever, jaundice, hepatosplenomegaly, neurological involvement, mucosal hemorrhage, and purpura.

Clinical characteristics of children with Juvenile Systemic Sclerosis: follow-up of 23 patients in a single tertiary center.

Background: Juvenile systemic sclerosis (JSS) is a multisystem connective tissue disease characterized by skin fibrosis and internal organ involvement. It has a low prevalence, even in a tertiary facility setting. The purpose of the present study is to describe and analyze the clinical and laboratory characteristics of a group of children with JSS followed in a single center.