Objective. To study the phenotype characteristics of the largest to date cohort of patients with pediatric granulomatous arthritis (PGA) and documented mutations in the NOD2 gene.Methods. We analyzed merged data from 2 prospective cohorts of PGA patients, the International PGA Registry and a Spanish cohort. A systematic review of the medical records of interest was performed to identify phenotype characteristics.Results. Forty-five patients with PGA (23 sporadic cases and 22 from familial pedigrees) and documented NOD2 mutations were identified and formed the basis of the study. Of these 45 patients, 18 had the R334W-encoding mutation, 18 had R334Q, 4 had E383K, 3 had R587C, 1 had C495Y, and 1 had W490L.The majority of patients manifested the typical triad of dermatitis, uveitis, and arthritis. In contrast, in 13 patients, the following "atypical" manifestations were noted: fever, sialadenitis, lymphadenopathy, erythema nodosum, leukocytoclastic vasculitis, transient neuropathy, granulomatous glomerular and interstitial nephritis, interstitial lung disease, arterial hypertension, hypertrophic cardiomyopathy, pericarditis, pulmonary embolism, hepatic granulomatous infiltration, splenic involvement, and chronic renal failure. In addition, 4 individuals who were asymptomatic carriers of a disease-causing mutation were documented.Conclusion. NOD2-associated PGA can be a multisystem disorder with significant visceral involvement. Treating physicians should be aware of the systemic nature of this condition, since some of these manifestations may entail long-term morbidity.Pediatric granulomatous arthritis (PGA) encompasses 2 diseases with an identical phenotype, the autosomal-dominant Blau syndrome and early-onset sarcoidosis, a sporadic condition. The finding of identical mutations on exon 4 of the NOD2 gene supports the notion that these diseases are actually the same (1-3). Blau (4) described the syndrome that bears his name as a triad of granulomatous boggy polyarthritis, uveitis, and papuloerythematous rash, whereas Jabs et al (5) described a polyarthritis with uveitis, without rash, but with cranial neuropathy. Early-onset sarcoidosis has been known since the 1970s, and like Blau syndrome, it is characterized by granulomatous boggy synovitis, uveitis, and rash, which is indistinguishable from Blau syndrome, albeit without a familial component (6).

Objective. To compare the incidence and extent of coronary artery calcification (CAC) as measured by electron beam computed tomography (EBCT) in patients with systemic lupus erythematosus (SLE) and controls, and to identify variables associated with CAC in patients with SLE.Methods. Female patients with SLE and matched controls were recruited; EBCT of the coronary arteries was performed, and laboratory values (including the homocysteine concentration, the lipid level, the high- Results. The incidence of CAC was higher in patients with SLE than in controls (P ‫؍‬ 0.009), and patients had a higher mean raw CAC (rCAC) score (87.9 versus 9.6 in controls; P ‫؍‬ 0.02). In particular, more CAC-positive patients than CAC-positive controls had rCAC scores above the 75th percentile (P ‫؍‬ 0.003). Among both patients and controls, those with CAC were ϳ10 years older than those without CAC. In addition to age, a significant determinant of positive CAC status in both groups was the number of cardiovascular risk factors. In patients with SLE, CAC was associated with a higher homocysteine concentration, a lower GFR, and longer disease duration. In controls, the total cholesterol level correlated positively with CAC. When multivariate logistic regression methods were applied to candidate explanatory variables, homocysteine concentration, age, and disease duration (but not the levels of sCD154 or hsCRP) contributed significantly to CAC status. The methylenetetrahydrofolate reductase C677T genotype was not a predictor of hyperhomocysteinemia or CAC status.Conclusion. Among patients with SLE, the homocysteine concentration, the GFR, age, and disease duration were associated with CAC. CAC occurred more frequently and was more extensive in patients with SLE than in controls, suggesting that EBCT could be used to detect premature atherosclerosis in the former group. An elevated homocysteine concentration might identify patients with SLE who are likely to have premature atherosclerosis and who would benefit from evaluation of CAC by EBCT.

Lean principles implemented by one hospital service line improved patient discharge times enhanced patient ED throughput, and reduced ED boarding times.

BackgroundSelf-management skills, including medication management, are vital to the health of adolescents and young adults with systemic lupus erythematosus (SLE). The purpose of this study was to assess the feasibility and preliminary effects of an online educational program in a cohort of adolescent and young adults with SLE with and without a social media (SM) experience.MethodsAdolescents and young adults with SLE participated weekly for 8 sessions on a web-based educational program about SLE created specifically for this project. Subjects were randomized to respond to questions at the end of each weekly module in a journal or on a SM forum with other SLE subjects. Patients were surveyed prior to initiating the study, (T0) and 6 weeks after completion of the sessions (T1). Medication adherence for hydroxychloroquine, utilizing the medication possession ratio (MPR), was compared for the 3 months preceding T0 and for the 3 months following T1.ResultsTwenty-seven of the 37 subjects (73%) enrolled completed the study, including the two required sets of surveys. Reasons for being lost to follow up included being too busy, forgetting, and/or not seeing email reminders. Medication adherence improved in all subjects (p < 0.001). The percentage of the SM intervention group that was adherent (MPR ≥ 80%) significantly improved from 50% to 92% (p = 0.03), while the control group did not. Secondary outcome measures that improved, only in the SM group, included self-efficacy, sense of agency (SOA), sense of community (SOC), and empowerment. There was a strong correlation between empowerment with SOA and SOC and in turn a strong correlation with SOA and SOC with MPR, providing a possible explanation for why social media participation helped to improve medication adherence. Subjective reporting of medication adherence was not reliably correlated to MPR.ConclusionsThis pilot study has demonstrated feasibility for the use of an online educational SLE website, recruitment, and measurement of chosen outcome measures. This study provides evidence for a larger multi-site trial which has the potential to address an important service gap by delivering self-management education and peer interactions in a format that is accessible, and engaging to young people with SLE.Trial registrationTrial registration: NCT03218033. Retrospectively registered 14 July 2017.Electronic supplementary materialThe online version of this article (10.1186/s12969-018-0232-2) contains supplementary material, which is available to authorized users.