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We present the socio-economic consequences of the chronic infantile neurological cutaneous and articular syndrome (CINCA), one of the various forms of the cryopyrin-associated periodic syndrome (CAPS), through the analysis of the 18 years-long story of one patient. We interviewed the patient and his mother and collected clinical documentation to estimate his life-time costs from the perspectives of the healthcare system and society. Total societal and healthcare costs amount to €178,394 and €137,272, respectively. For about 12 years the patient was not correctly diagnosed; health care costs in this period amounted to €81,280, mainly due to hospital care. After the disease was diagnosed, the pattern of costs dramatically changed with a sharp reduction of hospital costs and an increase of costs for medical therapy. This socioeconomic case-study illustrates the categories of costs that may be associated to patients with rare diseases and suggests that prompter diagnosis and adequate therapies may be also beneficial from a socio-economic perspective.

Objective. To evaluate the synovial expression of osteopontin (OPN) and its possible correlation with the degree of synovial angiogenesis in human chronic idiopathic arthritis.Methods. Forty-five patients with active juvenile idiopathic arthritis (JIA) were studied. All patients underwent SF aspiration before steroid injection. A paired plasma sample was collected from 22 JIA patients. Plasma from 15 age-matched healthy subjects was used as control. Plasma and SF were tested by ELISA for OPN and vascular endothelial growth factor (VEGF). Synovial tissue was obtained at synovectomy from 10 JIA patients. Immunohistochemistry was performed according to a standard technique with anti-OPN, anti-CD68, anti-CD31 anti-VEGF and anti-αvβ3 antibodies.Results. OPN levels were significantly higher in SF than in paired plasma samples (P<0.001). The same pattern was observed for VEGF (P<0.001). A positive correlation between OPN and VEGF concentrations was found in SF (r = 0.6, P = 0.001). In synovial tissue, OPN was expressed at the level of the lining and sublining layers with a distribution similar to that observed for VEGF. OPN expression in the lining layer correlated with the number of vessels present in the areas underlying the sublining layer.Conclusions. Synovial expression of OPN correlates with parameters of angiogenesis in JIA. These data support, in human disease, the possible role of OPN in the vascularization of inflamed synovial tissue, as previously shown in OPN-deficient animal models of arthritis.

Adult patients with rheumatic arthritis and other rheumatic disorders show inappropriate cortisol secretion and peculiar CRH promoter gene polymorphisms. So far, no data are available about this topic in children with juvenile idiopathic arthritis (JIA). We have studied a series of 13 prepubertal patients (10 female, 3 male) affected with oligoarticular JIA (o-JIA) without clinical and biological signs of disease activity (ESR and IL-6). ACTH plasma concentrations were significantly increased at 8 a.m. in o-JIA patients, whereas no differences were found in cortisol plasma concentrations. The ACTHcortisol ratio was significantly increased in o-JIA patients with respect to the normal population both at 8 a.m. and at noon. DHEAS and testosterone plasma concentration did not statistically differ in the two populations. The genetic study was aimed at defining the prevalence of polymorphisms A1 and A2 in o-JIA patients, but we failed to find allelic or genotypic differences. Our study suggests the presence of a partial resistance to ACTH with a dysregulated pattern of secretion also in inactive o-JIA patients. These preliminary data need further confirmation in larger pediatric studies.

From1989 to1994 we have been following in our Department 22 patients (12 males, 10 females, age range 1-13.5 years) affected by sJCA who underwent glucocorticoid (GC) treatment. These patients were randomised to receive for 6 months two different GC schedules: group A (12) received 6 methylprednisolone (6MP) i.v. for 3 days with 5 mg/kg/d and for an additional 3 days at 2.5 mg/kg/d followed by po prednisone (1 mg/kg/d); group B (10) received po prednisone (1 mg/kg/d). A remarkable decrease of disease activity and fever score and a prompt improvement of joint involvement were observed. A CPR serum concentration decrease associated to a consistent increase of Hb over baseline values were disclosed in group A. GC cumulative daily requirement was significantly lower in group A. Four patients from group B but only one from group A developed a cushingoid appearance: no differences of BMI were found in the two groups. Our study shows that in sJCA patients i.v. GC mini pulses are effective on early clinical and biological parameters of inflammation and requires a lower cumulative daily dosage than conventional oral GC treatment.

&lt;it>Objective&lt;/it>. To evaluate the role of vascular endothelial growth factor &lpar;VEGF&rpar; in the pathogenesis of local joint inflammation in juvenile idiopathic arthritis &lpar;JIA&rpar;. &lt;it>Methods&lt;/it>. Sera from 50 patients affected with JIA and 10 age&hyphen;matched healthy controls were tested with a commercial ELISA for VEGF. Corresponding synovial fluid &lpar;SF&rpar; concentrations of VEGF and p75 soluble tumour necrosis factor receptor &lpar;sTNFR&rpar; were evaluated in 20 active JIA patients. &lt;it>Results&lt;/it>. Serum concentrations of VEGF were significantly higher in patients with active polyarticular disease than in patients with active and inactive oligoarticular disease and healthy controls. In JIA patients, serum concentrations of VEGF displayed a significant correlation with a number of clinical and laboratory parameters of disease activity. VEGF concentrations in SF were significantly higher than those detected in corresponding sera. Moreover, a clear correlation was found between corresponding SF and serum VEGF concentrations. In SF, VEGF showed a strong positive correlation with p75 sTNFR. &lt;it>Conclusions&lt;/it>. Concentrations of VEGF in SF in patients with JIA are higher than corresponding serum concentrations, suggesting that this pro&hyphen;angiogenic factor may have a major role in the outgrowth of hyperplastic pannus and tissue damage at the site of tissue inflammation.