Diagnosis of PFAPA syndrome applied to a cohort of 17 adults with unexplained recurrent fevers.

Background: The pathophysiology of PFAPA syndrome, mainly characterised by regularly recurring periodic fevers associated with aphthous stomatitis, pharyngitis and/or lymphadenitis, and mostly occurring in the paediatric setting, resembles an acquired autoinflammatory disease. The description of PFAPA syndrome in adult patients is largely increasing.

Objectives: To recognise PFAPA syndrome in a group of adult patients evaluated for recurrent fevers in our Rheumatology Unit.

Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study.

Background: The potential clinical expression of tumor necrosis factor receptor-associated periodic syndrome (TRAPS), in the form of idiopathic recurrent acute pericarditis (IRAP) has not been explored in the medical literature. The aim of this study was to evaluate the incidence of TRAPS mutations in patients with recurrent pericarditis and identify possible clues to TRAPS diagnosis.

Methods: Therefore, 131 consecutive Caucasian IRAP patients were investigated for mutations of the TRAPS gene and prospectively evaluated.

Validation of an Italian version of the functional index for hand osteoarthritis (FIHOA).

Objectives: To translate the functional index for hand osteoarthritis (FIHOA) into Italian and to evaluate its reliability and validity in Italian patients with hand osteoarthritis (HOA).

Methods: The original French FIHOA was translated into Italian according to the guidelines for cross-cultural adaptation and then administered to 72 outpatients with HOA, together with the visual analogue scale of pain (VAS), the Health Assessment Questionnaire (HAQ) and the Short Form Health Survey (SF-36). Test-retest reliability was verified by having all patients fill out the Italian version of FIHOA again 1 week later.

Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes.

Cryopyrin-associated periodic syndromes are categorized as a spectrum of three autoinflammatory diseases, namely familial cold auto-inflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous articular syndrome. All are caused by mutations in the NLRP3 gene coding for cryopyrin and result in active interleukin-1 release: their rarity and shared clinical indicators involving skin, joints, central nervous system and eyes often mean that correct diagnosis is delayed. Onset occurs early in childhood, and life-long therapy with interleukin-1 blocking agents usually leads to tangible clinical remission and inflammatory marker normalization in a large number of patients, justifying the need to facilitate early diagnosis and thus avoid irreversible negative consequences for tissues and organs.

Treatment strategies for childhood noninfectious chronic uveitis: an update.

Background: Uveitis is an inflammatory disorder involving inflammation of the uveal tract. It is classified as anterior, intermediate, posterior or panuveitis, depending on the part of eye affected by the inflammatory process. In children, noninfectious, chronic uveitis is a relatively uncommon but serious disease, with the potential for significant long-term complications and possible blindness.

Adenosine A2A receptor activation stimulates collagen production in sclerodermic dermal fibroblasts either directly and through a cross-talk with the cannabinoid system.

Systemic sclerosis (SSc) is a connective tissue disease characterised by exaggerated collagen deposition in the skin and visceral organs. Adenosine A2A receptor stimulation (A2Ar) promotes dermal fibrosis, while the cannabinoid system modulates fibrogenesis in vitro and in animal models of SSc. Moreover, evidence in central nervous system suggests that A2A and cannabinoid (CB1) receptors may physically and functionally interact.

Circulating levels of the adipokines vaspin and omentin in patients with juvenile idiopathic arthritis, and relation to disease activity.

Objectives: Vaspin and omentin are two recently discovered adipokines that have been involved in chronic inflammatory processes. The aims of our study were to evaluate their serum levels in patients affected by juvenile idiopathic arthritis (JIA), in comparison to healthy controls, and to correlate circulating levels to parameters of disease activity.

Methods: Serum levels of omentin and vaspin were assayed by enzyme-linked immunosorbent assay in 40 patients with JIA classified according to the ILAR criteria and 26 healthy controls.

Validation of a diagnostic score for the diagnosis of autoinflammatory diseases in adults.

Most autoinflammatory disorders typically come out in the pediatric population, although a limited number of patients may experience disease onset during adulthood. To date, a late disease onset has been described only in familial Mediterranean fever, caused by mutations in the MEFV gene, and in tumor necrosis factor receptor-associated periodic syndrome, caused by mutations in the TNFRSF1A gene. The relative rarity and lack of information on adult-onset autoinflammatory diseases make it likely that mutations will be found in an even smaller percentage of cases.

Clinical and biochemical landmarks in systemic autoinflammatory diseases.

Systemic autoinflammatory diseases are a group of inherited disorders of the innate immune system characterized by seemingly unprovoked inflammation recurring at variable intervals and involving skin, serosal membranes, joints, and gastrointestinal apparatus, with reactive amyloidosis as a possible severe long-term complication. Recent advances in genetics and molecular biology have improved our understanding of the pathogenesis of these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, and hereditary pyogenic and granulomatous disorders: the vast majority of these conditions are related to the activation of the interleukin-1 pathway, which results in (or from?) a common unifying pathogenetic mechanism. Their diagnostic identification derives from the combination of clinical data, evaluation of acute phase reactants, clinical efficacy in response to specific drugs, and recognition of specific mutations in the relevant genes, although genetic tests may be unconstructive in some cases.

A novel ex vivo organotypic culture model of alkaptonuria-ochronosis.

Objectives: Alkaptonuria (AKU) is an orphan disease that has an estimated prevalence of 0.3/100,000. The disease is caused by the lack of activity of homogentisic acid oxidase (HGO), an enzyme involved in tyrosine and phenylalanine metabolism.

[The laboratory approach in the diagnosis of systemic autoinflammatory diseases].

Systemic autoinflammatory diseases are a group of inherited disorders of the innate immunity characterized by the recurrence of febrile attacks lasting from few hours to few weeks and multi-district inflammation of different severity involving skin, serosal membranes, joints, gastrointestinal tube and central nervous system. The vast majority of these conditions is caused by mutations in genes involved in the control of inflammation and apoptosis mechanisms. The group includes familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, hereditary pyogenic and granulomatous disorders.

Anti-Ro/SSA-associated corrected QT interval prolongation in adults: the role of antibody level and specificity.

Objective: Recent evidence suggests that anti-Ro/SSA antibodies, strongly associated with the development of congenital heart block, may also be arrhythmogenic for the adult heart. In fact, anti-Ro/SSA-positive patients with connective tissue disease (CTD) frequently display corrected QT (QTc) prolongation associated with an increase in ventricular arrhythmias. However, QTc prolongation prevalence markedly differs throughout the studies (10-60%), but the reason why is not yet clear.

High levels of maternal serum IL-17 and activin A in pregnant women affected by systemic lupus erythematosus.

Problem: To evaluate changes of serum IL-17, activin A, follistatin, and other cytokines during pregnancy in women with systemic lupus erythematosus (SLE).

Method Of Study: A group of patients with SLE and controls were longitudinally studied, collecting a blood sample before and during three trimesters of pregnancy. Serum activin A, follistatin, IL-17, IL-6, IL-10, and TNF-α concentrations were evaluated by specific ELISA.

Efficacy of balneotherapy on pain, function and quality of life in patients with osteoarthritis of the knee.

The aims of this study were to evaluate whether balneotherapy with mineral sulphate-bicarbonate-calcium water could determine substantial symptomatic improvement, and to detect any changes in the quality of life (QoL) of patients with symptomatic knee osteoarthritis (OA). This was a prospective randomized, single blind controlled trial. Sixty outpatients with primary bilateral knee OA, according to ACR criteria, were included in the study and randomized to one of two groups: group I (30 patients) was treated with a daily sulphate-bicarbonate-calcium mineral water bath; group II (30 patients), the control group, continued their regular outpatient care routine.

Phytothermotherapy in osteoarthritis: a randomized controlled clinical trial.

Objective: The aim of this study was to assess the efficacy of adding a cycle of phytothermotherapy (a traditional treatment with fermenting grass used in Trentino-Alto Adige, Italy) to the usual drug treatment, in patients with primary symptomatic osteoarthritis (OA) of the knee, hip, or lumbar spine.

Methods: In this randomized, single-blind, controlled trial, 218 outpatients were enrolled; 109 patients were treated with a cycle of phytothermotherapy at the thermal resort of Garniga Terme (Trento, Italy) for 10 days; the other 109 patients continued regular outpatient care. Patients were assessed at baseline, after 2 weeks, and after 3 months from the beginning of the study and were evaluated using a visual analogue scale (VAS) for spontaneous pain, a Health Assessment Questionnaire, the Lequesne index for hip and knee osteoarthritis, and the Rolland Morris Questionnaire for lumbar spine OA and symptomatic drug consumption.

Prevalence of anti-histone antibodies, their clinical significance and correlation with other autoantibodies in a cohort of Italian scleroderma patients.

Purpose: The aim of our study was to determine the prevalence, clinical significance of antibodies to individual histone components and to evaluate their correlation with other autoantibody specificities in a cohort of Italian SSc patients. Some authors, demonstrated high prevalence of anti-histone antibodies in Italian SSc patients, associated with cardiac and renal involvement, suggesting a prognostic value of these autoantibodies; however, these data need to be confirmed.

Methods: Serum from 112 adult SSc patients, classified as diffuse (dc) and limited cutaneous (lc) SSc subsets were analyzed for autoantibodies by indirect immunofluorescence, fluoroenzyme immunoassay and enzyme immunoassay.

Evaluation of the effect of Bosentan treatment on proinflammatory cytokine serum levels in patients affected by Systemic Sclerosis.

Systemic sclerosis (SSc) is a connective tissue disease characterized by vascular and fibrotic changes in the skin and in internal organs. Endothelin-1 (ET-1) is a peptide that has a role in promoting both vascular injury and the fibrotic process in SSc; indeed, patients with systemic sclerosis have higher levels of ET-1 compared with healthy subjects. Moreover, ET-1 enhances expression of pro-inflammatory cytokines in animal model.

Ultrasonography vs. clinical examination in children with suspected arthritis. Does it make sense to use poliarticular ultrasonographic screening?

Objectives: Juvenile idiopathic arthritis (JIA) is a term that encompasses all forms of arthritis that begin before the age of 16 years old, persist for more than 6 weeks and are of unknown cause. The ILAR criteria for JIA classification are based on the number of joints involved. The aim of our study was to compare clinical evaluation and ultrasonography (US) in the assessment of joint synovitis in children with suspected JIA.

Propagation of the sinus impulse into the Koch triangle and localization, timing, and origin of the multicomponent potentials recorded in this area.

Background: The presence of a conduction block at the level of the Koch triangle (KT) and the origin of the multicomponent potentials inside this area are controversial issues. We investigated the propagation of the sinus impulse into the KT and the characteristics of multicomponent potentials recorded in that area in patients with and without atrioventricular nodal reentrant tachycardia (AVNRT).

Methods And Results: Thirty-two patients (16 with AVNRT, 16 without AVNRT) underwent a sinus rhythm electroanatomic mapping of the right atrium (RA).

Navx-guided Cryoablation of Atrial Tachycardia Inside the Left Atrial Appendage.

Radiofrequency ablation procedures inside the left atrial appendage (LAA) are likely to involve dangerous complications because of a high thrombogenic effect. Cryoablation procedures are supposed to be safer. We describe two cases of successful cryoablation procedures.