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Salivary gland epithelial cells (SGECs) have been shown to participate in immunological responses and have been implicated in the pathogenesis of Sjögren's syndrome (SS). Experimental evidence from animal models indicates that estrogen deficiency may also participate in SS pathogenesis. However, the expression and functionality of the estrogen receptors alpha (ERalpha) and beta (ERbeta) in normal human salivary epithelium is unknown. To investigate these points, formalin-fixed, paraffin-embedded specimens and cultured non-neoplastic SGEC lines derived from nine minor salivary gland (MSG) biopsies with normal histology were studied. Immunohistochemical analyses detected the epithelial expression of ERalpha, ERbeta1, and ERbeta2 protein isoforms both in MSG tissues and in cultured SGECs. Such epithelial expression was verified by immunoblotting of various ER proteins in cellular extracts of cultured SGECs (full-length-ERalpha, ERalpha-Delta3, ERbeta1-long, ERbeta1-short, and ERbeta2-long isoforms). Estrogens did not induce growth or apoptosis in cultured SGECs. However, similarly to other cellular systems, treatment of cultured SGECs with estrogens (17beta-estradiol and the ERalpha- and ERbeta-selective agonists propylpyrazole-triol and diarylpropiolnitrile, respectively) inhibited the interferon-gamma-inducible expression of intercellular adhesion molecule-1. This finding corroborated the functionality of ER expressed by SGEC. Our results suggest that salivary epithelium expresses constitutively functional ERalpha and ERbeta proteins that apparently mediate immunomodulatory effects.

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A case of an 11-year-old prepubertal girl with Fournier's gangrene is presented. The diagnosis was posed after the disease had progressed to the typical clinical picture of frank gangrene. A benign viral infection, common warts, possibly represents the initiating event of the development of this necrotizing soft tissue infection. The development of childhood Fournier's gangrene in association with viral infections has been reported in the past. An optimal outcome was achieved by aggressive antibiotic and surgical treatment despite the late diagnosis. In children, Fournier's gangrene develops in previously healthy individuals with benign diseases often representing the initiating events; thus, high index of suspicion is necessary for an early diagnosis that will lead to the optimal outcome.

Sialic acid acetylesterase (SIAE) deficiency was suggested to lower the levels of ligands for sialic acid-binding immunoglobulin-like receptors, decreasing the threshold for B-cell activation. In humans, studies of rare heterozygous loss-of-function mutations in SIAE gene in common autoimmune diseases, including juvenile idiopathic arthritis (JIA), yielded inconsistent results. Considering the distinct pathogenesis of the two main subtypes of JIA, autoinflammatory systemic (sJIA) and autoimmune oligo/polyarticular (aJIA), and a predisposition to autoimmunity displayed by patients and families with primary antibody deficiencies (PADs), the aim of our study was to analyze whether SIAE rare variants are associated with both the phenotype of JIA and the autoimmunity risk in families with PADs. A cohort of 69 patients with JIA, 117 healthy children, 54 patients, and family members with PADs were enrolled in the study. Three novel SIAE variants (p.Q343P, p.Y495X, and c.1320+33T>C) were found only in patients with aJIA but interestingly also in their healthy relatives without autoimmunity, while none of PAD patients or their relatives carried SIAE defects. Our results show that SIAE rare variants are not causative of autoimmunity as single defects.

BackgroundJuvenile systemic sclerosis (jSSc) is an orphan disease. We have currently new promising effective medication to treat systemic sclerosis, but no valid outcome measures to assess the activity of the disease.ObjectivesIn the frame of the juvenile scleroderma working group of Paediatric Rheumatology European Society (PRES JSWG), we developed a provisional response index for jSSc.MethodsThe facilitating committee designed a 3-round Delphi-exercise to obtain a core set of disease activity measures in jSSc. In Round 1, they were asked to add unique items in 21 preleminary domains. Round 2 judged the items' applicability and importance using a 1-10 scale. Previous respondents were asked to re-rate uncertain (score 4-7) items in Round 3. The aforementioned were followed by a face-to-face Nominal Group discussion to decide final items and domain structure.Results52 participants of Round 1 suggested a total of 131 items for the 21 domains. In round 2, 56 responders rated the significance of the items. The Nominal Group accepted 11 main domains for further validation containing 41 items (see table 1).Table 1Global disease activity GDA according to physician and according to parent by VASBiomarkers ESR, CRP, HemoglobinRaynaud phenomenon and Digital ulcers Raynaud activity score, Raynaud severity, Number of ulcers, New ulcers, Digital ulcer severitySkin mRSS, Newly occurred calcinosis, Newly occurred teleangiectasia, Presence of scleroderma-related edemaPulmonary FVC, DLCO, 6 minute walk test, Borg indexCardiac Left Ventricular and Right Ventricular ejection fraction, Newly occurred carditis, Newly occurred arrythmia, Pro-BNP level New onset or worsening of PAHGastrointestinal New onset of swallowing difficulties, Change in stool frequency, New sign of refluxRenal Newly occurred hypertension, Newly occurred renal crisis, Proteinuria, Creatinine clearence, Change in GFRHealth related quality of life and function PEDSQL, CHAQ Pain VAS, Fatigue VASEssential paediatric data to collect: Weight, Height, Growth velocity, Tanner stage.ConclusionsWe reached consensus and developed a Response Index, which should help to conduct clinical trials in jSSc. The validation of the JSSRI is planned in the frame of the Juvenile Scleroderma Inception Cohort.Disclosure of InterestNone declared

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The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient-reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Greek language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographics, clinical data, and the JAMAR from 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the three Likert assumptions, floor/ceiling effects, internal consistency, Cronbach’s alpha, interscale correlations, test–retest reliability, and construct validity (convergent and discriminant validity). The Greek JAMAR was fully cross-culturally adapted with two forward and three backward translations. A total of 272 JIA patients (5.9% systemic, 57.7% oligoarticular, 21.3% RF negative poly-arthritis, 15.1% other categories), and 100 healthy children were enrolled in all centres. The JAMAR components discriminated well-healthy subjects from JIA patients; notably, there was no significant difference between healthy subjects and their affected peers in psychosocial quality of life and school-related items. All JAMAR components revealed good psychometric performances. In conclusion, the Greek version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and in clinical research.