Little is known about the reasons for prescribing adrenalin auto-injectors in Slovenian children. Our objective was to evaluate prescription of adrenaline auto-injectors in children in our department in year 2013 and also to evaluate management of anaphylaxis of those children.

PFAPA syndrome is the most common autoinflammatory disorder in childhood with unknown etiology. The aim of our study was clinical evaluation of PFAPA patients from a single tertiary care center and to determine whether variations of AIM2, MEFV, NLRP3, and MVK genes are involved in PFAPA pathogenesis. Clinical and laboratory data of consecutive patients with PFAPA syndrome followed up at the University Children's Hospital, Ljubljana, were collected from 2008 to 2014. All four genes were PCR amplified and directly sequenced. Eighty-one patients fulfilled criteria for PFAPA syndrome, 50 (63%) boys and 31 (37%) girls, with mean age at disease onset of 2.1 ± 1.5 years. Adenitis, pharyngitis, and aphthae were present in 94%, 98%, and 56%, respectively. Family history of recurrent fevers in childhood was positive in 78%. Nineteen variants were found in 17/62 (27%) patients, 4 different variants in NLRP3 gene in 13 patients, and 6 different variants in MEFV gene in 5 patients, and 2 patients had 2 different variants. No variants of clinical significance were found in MVK and AIM2 genes. Our data suggest that PFAPA could be the result of multiple low-penetrant variants in different genes in combination with epigenetic and environmental factors leading to uniform clinical picture.

BackgroundRheumatic diseases in children are associated with significant morbidity andpoor health-related quality of life (HRQOL). There is no health-relatedquality of life (HRQOL) scale available specifically for children with lesscommon rheumatic diseases. These diseases share several features withsystemic lupus erythematosus (SLE) such as their chronic episodic nature,multi-systemic involvement, and the need for immunosuppressive medications.HRQOL scale developed for pediatric SLE will likely be applicable tochildren with systemic inflammatory diseases.FindingsWe adapted Simple Measure of Impact of Lupus Erythematosus in Youngsters(SMILEY©) to Simple Measure of Impact of Illness in Youngsters(SMILY©-Illness) and had it reviewed by pediatric rheumatologists forits appropriateness and cultural suitability. We tested SMILY©-Illnessin patients with inflammatory rheumatic diseases and then translated it into28 languages.Nineteen children (79% female, n=15) and 17 parents participated. The meanage was 12±4 years, with median disease duration of 21 months (1-172months). We translated SMILY©-Illness into the following 28 languages:Danish, Dutch, French (France), English (UK), German (Germany), German(Austria), German (Switzerland), Hebrew, Italian, Portuguese (Brazil),Slovene, Spanish (USA and Puerto Rico), Spanish (Spain), Spanish(Argentina), Spanish (Mexico), Spanish (Venezuela), Turkish, Afrikaans,Arabic (Saudi Arabia), Arabic (Egypt), Czech, Greek, Hindi, Hungarian,Japanese, Romanian, Serbian and Xhosa.ConclusionSMILY©-Illness is a brief, easy to administer and score HRQOL scale forchildren with systemic rheumatic diseases. It is suitable for use acrossdifferent age groups and literacy levels. SMILY©-Illness with itsavailable translations may be used as useful adjuncts to clinical practiceand research.

Varicella infection is a highly contagious disease which can have a complicated course especially in immunocompromised children and children receiving immunomodulatory therapy.

Single nucleotide polymorphisms (SNPs) are common (1%) variations in DNA sequence, that can be the reason for individual variability in drug efficacy and drug safety.

Results We report the patient characteristics at time point 0, 6 and 12 months of their follow up. We present date on 25 patients. The mean follow up of the patients in the cohort are 3.5 years. No patient died during the follow up. Eighteen of the 25 patients were female. The mean age of the onset of Raynaud symptomatic was 10.4 years, the youngest patient was 2.0 years of age. The mean age at the onset of the non-Raynaud symptomatic were 11.0 years. 19 of the 25 have diffuse subtype, 6 of them have an overlap symptomatic, two of them associated with diffuse subtype. ANA positive were 20, and 8 of them were antiScl 70 positive. None of them was anticentromere positive The mean modified Rodnan Skin Score was at timepoint 0, 6 and 12 month 18.1, 15.1 (n=21) and 15.1. (n=17). Raynaud ́s Phenomen occurred in 22/25 at time point 0 and 16 of 21 at time point 6 months and 12 of 17 at 12 months. 18 of 25 of them had capillary changes already at time point 0. 7 of them had already ulcerations at time point zero, 9 of 21 at month 6 and 4 of 17 at months 12. 15 of them had cardiopulmonary involvement, at time point zero already, 9 of them had interstitial lung disease. 6 of 21 have cardiopulmonary involvement at month 6 and 7 of 17 at month 12 of follow up. Two of them have renal involvement at time point 0 and 3 at time point 6 and 12 months. 9 of 25 had gastrointestinal involvement, and 5 of them oesophageal involvement at time point zero, 3 from 21 at month 6 and 5 of 17 at 12 months. 22 of 25 have musculoskeletal involvement 19 of 21 at month 6 and 16 of 17 at 12 months.