Objective. Cryopyrin-associated periodic syndromes (CAPS) are a group of rare autoinflammatory diseases. Neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) is the most severe phenotype, with fever, rash, articular manifestations, and neurologic and neurosensory involvement. CAPS are caused by mutations in CIAS1, the gene encoding NLRP3, which plays a critical role in interleukin-1 (IL-1) processing. Anakinra, an IL-1 receptor antagonist, has been shown to be an effective treatment; however, data on long-term efficacy and safety have been sparse. This study was undertaken to assess the long-term efficacy and safety of anakinra treatment in patients with NOMID/CINCA syndrome.Methods. We retrospectively analyzed the medical records of NOMID/CINCA syndrome patients referred to 2 centers, who had started anakinra treatment before June 2007.Results. There were 10 patients with NOMID/ CINCA syndrome who had been treated with anakinra. The patients' ages at the time anakinra treatment was initiated ranged from 3 months to 20 years. They had been followed up for 26-42 months. Sustained efficacy in the treatment of systemic inflammation and, in some cases, neurologic involvement and growth parameters, was achieved. The dosage of anakinra required for efficacy ranged from 1 to 3 mg/kg/day in the 8 oldest patients and from 6 to 10 mg/kg/day in the 2 youngest. Residual central nervous system inflammation and deafness persisted in some patients, especially if there had been a delay in diagnosis and treatment. Secondary amyloidosis persisted in cases in which it was present at treatment initiation, but no new lesions developed. No effect on overgrowth arthropathy was observed. Adverse events consisted of mild injection-site reactions.Conclusion. The present results indicate that anakinra treatment is effective over the long term in NOMID/CINCA syndrome. However, treatment has to be initiated before irreversible lesions develop, and, particularly in very young patients, dosage adjustment is required.

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Prophylactic interventions have lead to the reduction of the mother-to-child transmission (MTCT) of human immunodeficiency virus type 1 (HIV-1) to less than 2% in industrialized countries. The aim of this study was to evaluate the changes over time in vertical transmission according to the standard care of prophylaxis in the practice of a single large reference center and to identify the risk factors for failure. The rate of MTCT decreased progressively from 10% in 1986-1993 to 4.7% in 1999-2002, reflecting the progressive implementation of newly available means of prevention. During the last period evaluated (1999)(2000)(2001)(2002), where highly active antiretroviral therapy (HAART) prophylaxis was the standard of care, 17% of women had a viral load between 400 and 20,000 copies/ml around delivery and 5% had a viral load above 20,000 copies/ml. High viral load and low CD4 lymphocyte count were strongly associated with vertical transmission. The rate of MTCT in women who received HAART for more than one month during pregnancy was 1.7%, compared to 13.3% in women treated with HAART for less than one month. The risk of vertical transmission in the absence of therapy was four times higher than before the era of antiretroviral therapy (ART; p=0.05). In conclusion, since the prevention of MTCT of HIV with HAART is the standard of care, a short duration or absence of ART during pregnancy linked to late or absent prenatal care is associated with a high risk of transmission. The early detection of HIV-1 infection in pregnant women, and close follow up and support during pregnancy are crucial to the success of the prevention of transmission.

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Background Interleukin-1 (Il-1) is a critical cytokine for the pathogenesis of systemic JIA. Treatment with anakinra (Il-1 receptor antagonist) has been reported to be effective in some patients with systemic-onset juvenile idiopathic arthritis (SoJIA). Objectives To examine the safety and the efficacy of anakinra treatment in a cohort of SoJIA patients regarding clinical and biological data from two reference centers. Methods We retrospectively reviewed the medical records of 50 patients with SoJIA, treated with anakinra (1-3 mg/kg/day) at the pediatric rheumatologic units of two tertiary university hospitals in Spain between 2004 and 2011. Anakinra’s effects were studied on several parameters including clinical parameters (fever, rash, limited and active joints), time since symptoms started and diagnose to beginning of treatment, biological parameters (erythrocyte sedimentation rate (ESR), C-reactive protein levels (CRP), ferritin, and white blood cell count (WCC)). Resulting data were analysed to characterize therapies, clinical course and adverse events. Statistics were obtained using SPSS program. Results There were 28 (56%) boys and 22 (44%) girls. Age at diagnosis varied from 7 months to 15,8 years (median 6,6 years). Time from diagnosis to anakinra treatment varied from 0 to 118 months (median 16,43 months). Treatment duration varied from 0 to 70 months (mean 23,6 months). Statistical significance was found when comparing at 0 and 6 month of treatment with anakinra in: Fever (p<0,001), rash (p<0,001), ESR (p<0,001), CRP (p<0,001), Ferritin (p<0,049), WCC (p<0,001), active arthritis joint count (p<0,001), limited joint count (p<0,031). A significant relationship (Spearman correlation) was observed regarding the number of active and limited joints when we analysed the time passed between diagnosis and anakinra treatment onset (Table 1). Table 1 EventrIC 95%pn Limited joints at 6 months0,389(0,09, 0,62)0,01340 Active joints at 6 months0,346(0,04, 0,59)0,02741 Side effects at 6 months were hipertransaminasemia (1 patient), macrophage activation syndrome (1 patients), tipe I hypersensibility (2 patients). Pain at the anakinra injection site was present in 70% of the patients but in all cases, pain disappeared within 2 months. Conclusions These results show that shortening the time passed from diagnosis to anakinra treatment reduces the number of active and limited joints, since then, anakinra should be considered as a first line therapy in SoJIA patients. Disclosure of Interest None Declared

Background Chronic Uveitis (CU) is a severe complication of JIA. We reviewed the clinical course of CU in our JIA patients.

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