Study of vitamin D status and vitamin D receptor polymorphisms in a cohort of Italian patients with juvenile idiopathic arthritis.

Juvenile idiopathic arthritis (JIA) is the most common chronic arthritis of children and adolescents. Autoimmune mechanisms are suspected to have a central role in its development. Vitamin D is an immuno-modulator in a variety of conditions, including autoimmune diseases.

Clinical-Serological Characterization and Treatment Outcome of a Large Cohort of Italian Children with Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infection and Pediatric Acute Neuropsychiatric Syndrome.

Pediatric autoimmune neuropsychiatric disorder associated with infection (PANDAS) and pediatric acute-onset neuropsychiatric syndrome (PANS) are emerging immune-mediated encephalopathies characterized by sudden onset of seemingly inexplicable complex neuropsychiatric symptoms, including obsessions, compulsions, and heterogeneous tics, which occur in children. Main goal of this study was to report our experience in a large cohort of Italian children affected by either PANDAS or PANS and treated long term with an antibiotic regimen similar to that used for acute rheumatic fever. The clinical charts of a cohort of 371 consecutive Italian children, 345 with PANDAS (93.

Kawasaki disease: guidelines of the Italian Society of Pediatrics, part I - definition, epidemiology, etiopathogenesis, clinical expression and management of the acute phase.

The primary purpose of these practical guidelines related to Kawasaki disease (KD) is to contribute to prompt diagnosis and appropriate treatment on the basis of different specialists' contributions in the field. A set of 40 recommendations is provided, divided in two parts: the first describes the definition of KD, its epidemiology, etiopathogenetic hints, presentation, clinical course and general management, including treatment of the acute phase, through specific 23 recommendations.Their application is aimed at improving the rate of treatment with intravenous immunoglobulin and the overall potential development of coronary artery abnormalities in KD.

Kawasaki disease: guidelines of Italian Society of Pediatrics, part II - treatment of resistant forms and cardiovascular complications, follow-up, lifestyle and prevention of cardiovascular risks.

This second part of practical Guidelines related to Kawasaki disease (KD) has the goal of contributing to prompt diagnosis and most appropriate treatment of KD resistant forms and cardiovascular complications, including non-pharmacologic treatments, follow-up, lifestyle and prevention of cardiovascular risks in the long-term through a set of 17 recommendations.Guidelines, however, should not be considered a norm that limits the treatment options of pediatricians and practitioners, as treatment modalities other than those recommended may be required as a result of peculiar medical circumstances, patient's condition, and disease severity or individual complications.

Longterm Safety and Efficacy of Adalimumab and Infliximab for Uveitis Associated with Juvenile Idiopathic Arthritis.

Objective: Anti-TNF-α agents have significantly changed the management of juvenile idiopathic arthritis (JIA). We evaluated the safety and efficacy of adalimumab (ADA) and infliximab (IFX) for the treatment of JIA-associated uveitis in patients treated for ≥ 2 years.

Methods: Patients with JIA-associated uveitis treated with IFX and ADA were managed by a standardized protocol and data were entered in the ORCHIDEA registry.

Cross-Sectional Evaluation of Plasma Vitamin D Levels in a Large Cohort of Italian Patients with Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections.

Background: Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) are immune-mediated diseases characterized by obsessive-compulsive symptoms and/or tics triggered by group A Streptococcus infections. Despite the well-known action of 25-hydroxyvitamin D [25(OH)D] on different conditions driven by systemic inflammation, there are no data about the 25(OH)D status in patients with PANDAS.

Aims: To evaluate plasma 25(OH)D levels in a large cohort of children and adolescents with PANDAS and comparing the results with healthy controls.

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

Objectives: To analyse the prevalence of mutations in patients diagnosed with early onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation or polyarteritis nodosa (PAN). Forty-eight patients from 43 families were included in the study.

Methods: Direct sequencing of was performed by Sanger analysis.

Comparable Efficacy of Abatacept Used as First-line or Second-line Biological Agent for Severe Juvenile Idiopathic Arthritis-related Uveitis.

Objective: Abatacept (ABA) has recently been proposed as second-line treatment in patients with juvenile idiopathic arthritis (JIA)-associated uveitis refractory to anti-tumor necrosis factor-α (anti-TNF) agents, but little is known about its efficacy as a first-line approach. The aim of the present study was to compare the safety and efficacy of ABA as a first-line biological agent (ABA-1) with that of ABA as a second-line treatment after 1 or more anti-TNF agents (ABA-2), in patients with severe JIA-related uveitis.

Methods: In this multicenter study, we collected data on patients with severe JIA-related uveitis treated with ABA as a first-line or second-line biological agent.

Severe vitamin D deficiency in patients with Kawasaki disease: a potential role in the risk to develop heart vascular abnormalities?

Twenty-five-hydroxyvitamin D (25(OH)-vitamin D) is crucial in the regulation of immunologic processes, but-although its deficiency has been reported in patients with different rheumatological disorders-no data are available for Kawasaki disease (KD). The goals of this study were to assess the serum levels of 25(OH)-vitamin D in children with KD and evaluate the relationship with the eventual occurrence of KD-related vascular abnormalities. We evaluated serum 25(OH)-vitamin D levels in 79 children with KD (21 females, 58 males, median age 4.

Health related quality of life measure in systemic pediatric rheumatic diseases and its translation to different languages: an international collaboration.

Background: Rheumatic diseases in children are associated with significant morbidity and poor health-related quality of life (HRQOL). There is no health-related quality of life (HRQOL) scale available specifically for children with less common rheumatic diseases. These diseases share several features with systemic lupus erythematosus (SLE) such as their chronic episodic nature, multi-systemic involvement, and the need for immunosuppressive medications.

Anti-nuclear antibodies as predictor of outcome in a multi-center cohort of Italian children and adolescents with Raynaud's phenomenon.

A retrospective multi-center data collection of clinical, laboratory, and treatment characteristics of 94 Caucasian children and adolescents with Raynaud's phenomenon (RP) started at a mean age of 12.8 ± 5 years, with variable involvement of hands, feet, and face, was performed for a period of 3 years. Collected data included nailfold videocapillaroscopy (NVC), lung function tests, and different laboratory tests finalized to characterize an eventual connective tissue disease (CTD), disclosed by RP itself.

Evaluation of autoimmune phenomena in patients with pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS).

The pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) are basically characterized by obsessive-compulsive symptoms and/or tics triggered by group-A beta-hemolytic Streptococcus infections. Poor data are available about the clear definition of PANDAS's autoimmune origin. The aim of our study was to evaluate the prevalence of autoimmune phenomena, including thyroid function abnormalities, specific celiac disease antibodies, and positivity of organ- or nonorgan-specific autoantibodies in a large cohort of Caucasian children and adolescents with PANDAS.

Determinants of vitamin D levels in children, adolescents, and young adults with juvenile idiopathic arthritis.

Objective: Deficiency of 25-hydroxyvitamin D [25(OH)D] is reported to be common in patients with rheumatoid arthritis (RA); data in patients with juvenile idiopathic arthritis (JIA) are inconsistent. We assessed serum 25(OH)D in children, adolescents and young adults with JIA, in order to identify the risk factors for vitamin D deficiency in patients with JIA.

Methods: We evaluated 152 patients with JIA: 115 female, 37 male, mean age 16.

Vitamin D levels and effects of vitamin D replacement in children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

Background: The periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is an autoinflammatory disease characterized by regularly recurrent fever episodes due to seemingly unprovoked inflammation.

Objective: To assess serum 25-hydroxyvitamin D [25(OH)D] concentrations in children with PFAPA syndrome and evaluate longitudinally the effect of wintertime vitamin D supplementation on the disease course.

Study Design: We have evaluated 25 Italian patients (19 males, 6 females, aged 2.

Bone mass and quality in patients with juvenile idiopathic arthritis: longitudinal evaluation of bone-mass determinants by using dual-energy x-ray absorptiometry, peripheral quantitative computed tomography, and quantitative ultrasonography.

Introduction: Our objective was to evaluate longitudinally the main bone-mass and quality predictors in young juvenile idiopathic arthritis (JIA) patients by using lumbar spine dual-energy X-ray absorptiometry (DXA) scan, radius peripheral quantitative computed tomography (pQCT), and phalangeal quantitative ultrasonography (QUS) at the same time.

Methods: In total, 245 patients (172 females, 73 males; median age, 15.6 years: 148 oligoarticular, 55 polyarticular, 20 systemic, and 22 enthesitis-related-arthritis (ERA) onset) entered the study.

Kawasaki disease in a girl with Turner syndrome: a remarkable association.

We describe a girl with Turner syndrome, a genetic disorder of the X chromosome in a phenotypic female at increased risk of autoimmune and immunological diseases, who developed Kawasaki disease at the age of four years. Given the possible relationship between these two disorders, we recommend suspecting Kawasaki disease in patients with Turner syndrome who present with persistent fever of unknown origin and who are not responsive to antibiotic therapy. Attention should be given to this phenomenon, as patients with Turner syndrome are themselves at higher risk of cardiovascular defects.

Clinical overview and outcome in a cohort of children with polyarteritis nodosa.

Objectives: Polyarteritis nodosa (PAN) is a rare vasculitis in childhood and poor information is known about its long-term outcome. Our aim was to describe the clinical features, at onset and during the disease course, of childhood-onset PAN and identify a potential correlation with persistent organ damage and worse outcome in a cohort of paediatric patients with a confirmed diagnosis of PAN.

Methods: A retrospective collection of demographic and clinical data of 52 Caucasian children diagnosed with PAN, fulfilling the EULAR/PRES diagnostic criteria, recruited from eight paediatric rheumatologic centres and one transition unit, was performed.

High frequency ultrasound can detect improvement of lesions in juvenile localized scleroderma.

Background: Juvenile Localized Scleroderma (JLS) causes functional disabilities and cosmetic deformities. Evaluation and follow-up of lesions are mandatory to understand the disease evolution. The objective of this study is to evaluate the usefulness of skin ultrasonography (US) in monitoring the response to treatment in JLS.

Fibroblast growth factor 23 (FGF23) gene polymorphism in children with Kawasaki syndrome (KS) and susceptibility to cardiac abnormalities.

Background: Fibroblast Growth Factor (FGF) 23 influences endothelial integrity and few reports have studied the association between FGF23 and Kawasaki syndrome (KS), a childhood vasculitis displaying a high risk of subsequent cardiac abnormalities (CaA).

Aim: To investigate the genetic variation in the FGF23 gene in a cohort of KS children and its association with serum FGF23 levels and eventual development of CaA, including both coronary artery dilatations and aneurysms.

Patients And Methods: 84 Italian KS children were recruited; 24/84 (28.

CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort.

Camptodactyly-Arthropathy-Coxa vara-Pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by mutations in PRG4 gene that encodes for proteoglycan 4, a mucin-like glycoprotein that is the major lubricant for joints and tendon surfaces. The molecular studies reported so far have described the identification of 15 mutations associated with this syndrome and the majority of them were found in families of Arabian origin. Here we report the molecular investigation of the largest European cohort that comprises 13 patients, and allowed the identification of 5 novel mutations and of the first case of CACP syndrome resulting from uniparental disomy of chromosome 1.

Can fibroblast growth factor (FGF)-23 circulating levels suggest coronary artery abnormalities in children with Kawasaki disease?

Objectives: Kawasaki disease (KD) is an acute self-limited panvasculitis, primarily affecting young children, with an outstanding risk of cardiovascular complications. Fibroblast Growth Factor-23 (FGF23) is the latest member of the FGF family, acting on phosphate metabolism, which has been shown to display a potential role in the vascular remodelling. The aim of our study was to test the hypothesis that circulating serum levels of FGF23 might be related to the occurrence of coronary artery abnormalities (CAA) in children with KD.

Safety and efficacy of infliximab and adalimumab for refractory uveitis in juvenile idiopathic arthritis: 1-year followup data from the Italian Registry.

Objective: To evaluate safety and efficacy of adalimumab (ADA) and infliximab (IFX) for the treatment of juvenile idiopathic arthritis-related anterior uveitis (JIA-AU).

Methods: Starting January 2007, patients with JIA-AU treated with IFX and ADA were managed by a standard protocol and data were entered into the National Italian Registry (NIR). At baseline, all patients were refractory to standard immunosuppressive treatment and/or were corticosteroid-dependent.

Discrimination between incomplete and atypical Kawasaki syndrome versus other febrile diseases in childhood: results from an international registry-based study.

Objectives: Kawasaki syndrome (KS) is an acute systemic vasculitis of unknown origin predominantly affecting young children. Early diagnosis is crucial to prevent cardiac complications. However, the differential diagnosis of patients with the incomplete or atypical form of the disease poses a heavy challenge for the paediatrician.

A preliminary disease severity score for juvenile systemic sclerosis.

Objective: To develop a preliminary disease severity score for juvenile systemic sclerosis (SSc).

Methods: We conducted an evidence- and consensus-based study that included the following 5 phases: 1) prospective collection of data regarding the demographic and clinical characteristics of patients with diffuse juvenile SSc who were followed up for at least 4 years or until death; 2) blinded evaluation of the disease course profiles of these patients by experts in juvenile SSc, so that patient profiles with a defined clinical course could be used as the gold standard for the score validation phase; 3) definition of candidate severity indices to be included in potential scores; 4) selection of the pediatric severity score with the best statistical performance, as determined by its ability to classify individual patients as having improvement or worsening of disease compared with baseline values or the previous evaluation; 5) validation of the efficiency of the selected score in patients with a mild, moderate, or severe disease course and comparison with the Medsger severity score for adults with SSc.

Results: Thirty-five patients classified as having a mild (n = 17), moderate (n = 10), or severe (n = 8) disease course entered the study.