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OBJECTIVE: To develop and validate a diagnostic score that assists in discriminating primary hemophagocytic lymphohistiocytosis (pHLH) from macrophage activation syndrome (MAS) related to systemic juvenile idiopathic arthritis. STUDY DESIGN: The clinical, laboratory, and histopathologic features of 362 patients with MAS and 258 patients with pHLH were collected in a multinational collaborative study. Eighty percent of the population was assessed to develop the score and the remaining 20% constituted the validation sample. Variables that entered the best fitted model of logistic regression were assigned a score, based on their statistical weight. The MAS/HLH (MH) score was made up with the individual scores of selected variables. The cutoff in the MH score that discriminated pHLH from MAS best was calculated by means of receiver operating characteristic curve analysis. Score performance was examined in both developmental and validation samples. RESULTS: Six variables composed the MH score: age at onset, neutrophil count, fibrinogen, splenomegaly, platelet count, and hemoglobin. The MH score ranged from 0 to 123, and its median value was 97 (1st-3rd quartile 75-123) and 12 (1st-3rd quartile 11-34) in pHLH and MAS, respectively. The probability of a diagnosis of pHLH ranged from 99% for a score of =123. A cutoff value of =60 revealed the best performance in discriminating pHLH from MAS. CONCLUSION: The MH score is a powerful tool that may aid practitioners to identify patients who are more likely to have pHLH and, thus, could be prioritized for functional and genetic testing.

Resumen: Objetivos: Elaborar un documento de recomendaciones consensuadas para el uso de metotrexato (MTX) en pacientes con artritis idiopática juvenil (AIJ). Material y método: Un grupo de 11 expertos planteó diversos interrogantes clínicos en el uso de MTX en pacientes con AIJ. Se realizó una revisión sistemática y se extrajeron las evidencias y recomendaciones para cada pregunta. Los resultados fueron valorados y consensuados por los expertos en una sesión presencial para establecer las recomendaciones finales. Resultados: Se recomienda el MTX como primer fármaco inductor de remisión en AIJ, cuya indicación se realizará según la categoría clínica del paciente. Previo al tratamiento se recomienda evaluar un hemograma que incluya recuento leucocitario, niveles de enzimas hepáticas y creatinina sérica, así como otros parámetros analíticos conforme a factores de riesgo específicos. El tratamiento se iniciará con dosis de 10-15 mg/m2/semana. En casos de uveítis o poliartritis se valorará una dosis inicial de 15 mg/m2/semana. Para una mejor biodisponibilidad y tolerabilidad, se administrará preferentemente por vía parenteral si la dosis es ≥ 15 mg/m2/semana. Se deberá realizar un seguimiento analítico del paciente periódicamente y evaluar posibles alteraciones en enzimas hepáticas para realizar cambios si fuera preciso. La combinación con biológicos puede ser necesaria, además del uso concomitante de ácido fólico o folínico. Conclusiones: Este documento recoge las principales recomendaciones para el empleo adecuado de MTX en pacientes con AIJ, de acuerdo a la evidencia científica y a la experiencia clínica. Abstract: Objectives: To develop a consensus document of recommendations for the use of methotrexate (MTX) in patients with juvenile idiopathic arthritis (JIA). Material and method: A group of eleven experts proposed several clinical questions on the use of MTX in patients with JIA. A systematic review was conducted and the evidence and recommendations for each question were extracted. The results were discussed and validated by the experts in a work session to establish the final recommendations. Results: MTX is recommended as the first drug for inducing remission in JIA, and its indication should be made according to the clinical category of the patient. Prior to treatment, it is recommended to perform a complete blood count, including white cells, levels of liver enzymes, serum creatinine, and other analytical parameters according to specific risk factors. Treatment should be initiated with a dose of 10-15 mg/m2/week. In cases of uveitis or polyarthritis, an initial dose of 15 mg/m2/week should be considered. For a better bioavailability and tolerability, it is preferable to administer MTX parenterally if the dose is ≥ 15 mg/m2/week. It is necessary to periodically perform an analytical monitoring of the patient and to assess possible alterations in liver enzymes to make changes if necessary. Combinations with biological agents may be necessary, as well as the concomitant addition of folic or folinic acid. Conclusions: This document describes the main recommendations for the appropriate use of MTX in JIA patients, according to scientific evidence and clinical experience.

Resumen: Introducción: La cojera es un motivo de consulta frecuente. Nuestro objetivo es describir las características de los niños con cojera valorados en Reumatología. Material y Métodos: Estudio de corte transversal desde octubre de 2009 a junio de 2010. Las variables incluyeron: datos epidemiológicos, síntomas clínicos y pruebas de laboratorio e imagen. Resultados: Los 95 pacientes se clasificaron en cuatro grupos de acuerdo con su diagnóstico, inflamatorio 22%, infeccioso 17%, sinovitis transitoria de cadera 13% y miscelánea 48%. Había diferencias entre grupos en la edad (p

Resumen: Introducción: La ecografía no distingue entre los diferentes tipos de sinovitis. El objetivo de este trabajo fue valorar su contribución junto a algunos datos clínicos en el diagnóstico de la artritis séptica (AS) y la sinovitis transitoria (ST) de cadera. Método: Estudio prospectivo de pacientes con ST o AS de cadera unilateral realizado entre diciembre 2006 y julio 2009. Las variables incluyeron manifestaciones clínicas y medidas ecográficas. Las ecografías fueron realizadas con un método estandarizado. Resultados: La muestra estaba compuesta por 26 niños, 22 diagnosticados de ST y 4 de AS. Se encontró diferencia en la historia de fiebre (p=0,002). La edad no era diferente, aunque la media y la mediana en ST fue 6 años, frente a media de 4,3 y mediana de 2,3 en AS. Tampoco fueron diferentes las medidas ecográficas.El valor predictivo positivo del criterio «mayor de 4 años y ausencia de fiebre» para el diagnóstico de sinovitis transitoria fue 100%, mientras que «menor de 4 años e historia de fiebre» para el diagnóstico de artritis séptica era del 75%, siempre que la radiología hubiese excluido procesos ortopédicos y la ecografía mostrara derrame. Conclusiones: Pese a las limitaciones del estudio (tamaño de la muestra y baja prevalencia) la combinación de edad e historia de fiebre parece útil para diferenciar la sinovitis transitoria de la artritis séptica. La contribución de la ecografía fue confirmar la presencia de derrame articular. Abstract: Introduction: Ultrasound does not distinguish between different types of synovitis. The aim of this study was to evaluate its contribution, together with several clinical data, in the diagnosis of septic arthritis (SA) and transient synovitis (TS) of the hip. Methods: Prospective study of patients diagnosed with unilateral SA or TS of the hip carried out between December 2006 and July 2009. A set of clinical variables and ultrasound measurements were analysed. The ultrasound examinations were performed using a standardised procedure. Results: The sample included 26 children, 22 diagnosed with TS and 4 with SA. A difference was found in the history of fever (P=0.002). On the other hand, no differences were detected in the age of the children, although mean and median in the TS group were 6 years vs a mean of 4.3 with a median of 2.3 years in the SA group. There were no differences in the ultrasound measurements either.The positive predictive value of the criterion “older than 4 years of age and no history of fever” for the diagnosis of transient synovitis was 100%, while “younger than 4 years and history of fever” for the diagnosis of septic arthritis was 75%, once radiology had excluded orthopaedic processes and ultrasound showed an effusion. Conclusions: In spite of the study limitations (sample size and low prevalence) the combination of age and history of fever appears to be useful in distinguishing transient synovitis from septic arthritis. The contribution of ultrasound was to confirm the presence of joint effusion.

Mevalonate kinase deficiency (MKD) is a recessively-inherited autoinflammatory condition caused by loss-of-functionMVK mutations. This gene encodes for the enzyme mevalonate kinase (MVK), which catalyzes a crucial step of the biosynthetic pathway of cholesterol and isoprenoids. The partial deficiency of enzymatic activity causes the Hyper-IgD and periodic fever syndrome (HIDS), whereas it complete deficiency provokes the Mevalonic Aciduria (MA).

Preliminary response to Janus kinase inhibition with baricitinib in chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) G Montealegre, A Reinhardt, P Brogan, Y Berkun, A Zlotogorski, D Brown, P Chira, L Gao, J Dare, S Schalm, R Merino, D Chapelle, H Kim, S Judd, M O’Brien, A Almeida De Jesus, Y Kim, B Kost, Y Huang, S Paul, A Brofferio, C-C Lee, C Hadigan, T Heller, C Minniti, K Rother, R Goldbach-Mansky

BS is an autosomal dominant monogenic granulomatous disease due to gain of function mutations at or near the NACHT domain of NOD2. It is characterized by a triad of granulomatous polyarthritis, uveitis and rash. Retrospective work by our group showed a life time risk of ocular involvement of 60% with significant morbidity and poor visual outcome. Prospective studies on natural history of visual outcome are not available. In view of current lack of effective therapies, research on relevant pathways downstream NOD2 is essential and may lead to appropriate targeted drug development.

Intra-articular corticosteroid injections (IACI) are one of the mainstays of treatment for children with juvenile idiopathic arthritis. The most important disadvantage of IACI is the pain associated with the procedure. Little is known about the children or parents' perception of this pain. This study was undertaken to determine whether patients and their parents prefer sedation to receive IACI or not and why. A survey form was presented to patients and/or their parents from January to March 2010 to evaluate their choice of anesthesiologist-controlled deep sedation (with sevoflurane) vs. no sedation–no local anesthesia and the reasons for it. All participants had experienced the two options. In addition, there were two visual analog scales (VAS) to evaluate pain associated with blood draws and IACI, respectively. A total of 45 patients and their parents filled out the survey form. There were 34 females; the median age was 10.6 years, and the median duration of the disease was 6.4 years. Median VAS score was 1.3 for pain associated with blood draws, and 6, for IACI. Most children preferred sedation for IACI (26 vs. 15), although four did not show preference for either method. Children who preferred sedation for IACI were younger (p = 0.03) and had a shorter course of disease (p = 0.04). Conclusions: While most children prefer to receive IACI under sedation, a majority of parents prefer to avoid its risks. Children who prefer IACI without sedation are significantly older and have a longer course of disease.

Purpose To report the results of adalimumab therapy in a cohort of children with refractory noninfectious uveitis. Methods The medical records of patients diagnosed with uveitis and treated with biweekly adalimumab injections for a period of at least 3 months at the University Hospital of La Paz from 2007-2012 were retrospectively reviewed. Improvement in inflammatory activity was graded according to grading schema of the Standardization of Uveitis Nomenclature Working Group. Results A total of 15 patients participated in the study (12 girls; mean patient age, 12 years). Diagnoses included juvenile idiopathic arthritis in 10 patients, idiopathic uveitis in 4, and familial juvenile systemic granulomatosis or Blau syndrome in 1. Mean follow-up was 32 months (median, 36; range, 15-58 months). Improvement in inflammatory activity was initially observed in 12 (86%) of 14 children, with a mean time to achieve response of 6 weeks (median, 4; range, 1-18). Treatment was effective in 9 patients (60%), mildly effective in 2 (13%), ineffective in 2 (13%), and resulted in worsening in 2 (13%). In the juvenile idiopathic arthritis patients, response was effective in 6 cases (60%), mildly effective in 2 (20%), and ineffective in 2 (20%). Adalimumab therapy was discontinued in 4 patients. Conclusions Adalimumab was effective in most patients in the initial control of acute inflammatory activity in children with refractory uveitis, although therapy appears to become less effective in the long term.

Objetivo Evaluar la evolucion a largo plazo de los pacientes con nefropatia lupica (NL). Material y metodos Analisis retrospectivo de las historias clinicas de 23 ninos diagnosticados de lupus eritematoso sistemico (LES) con participacion renal desde 1983 a 2005. Resultados Estudiamos 18 mujeres y 5 varones con edad 11,9 ± 1,9 anos (8,4-14,9 anos). Todos tuvieron microhematuria inicial, 22 (96 %) proteinuria y 10 (44 %) filtrado glomerular disminuido. En 20 pacientes con biopsia renal el diagnostico anatomopatologico fue: clase II 3 (13 %), III 7 (30 %), IV 8 (35 %), V 2 (9 %). En 1 caso estuvo asociada a proliferacion mesangial y en 6, a GN membranosa. Realizamos tratamiento de induccion con corticoides en todos los pacientes, asociado a ciclofosfamida (CF) IV en 5 casos (1 clase III y 4 clase IV), CF oral en 4 (1 clase III y 3 clase IV), mofetil micofenolato (MMF) en 1 de clase IV y azatioprina en 2 (1 tipo II y otro tipo V). Bolos de metilprednisolona empleamos en 5 casos, 4 con clase IV y 1 clase III con manifestaciones sistemicas graves. El mantenimiento se ha hecho con bolos trimestrales de CF en 4, azatioprina en 4, MMF en 3 y exclusivamente corticoides en 9 (3 de ellos los que recibieron CF oral). Recaidas de NL presentaron 10 pacientes. Tras una evolucion de 5,8 ± 4,8 anos (1-23 anos), 2 pacientes han fallecido, 13 estan en remision total, 5 presentan alteraciones del sedimento urinario, 3 manifestaciones extrarrenales y 1 esta en recaida. IRC han desarrollado 2 pacientes, ninguno IRT. De los 21 vivos solo 3 (13 %) no reciben ningun tipo de tratamiento, 5 estan con MMF, 3 con azatioprina y 2 con CF, 15 mantienen los corticoides (8 a diario y 7 en alterno). Conclusiones La evolucion de la NL en nuestros pacientes ha sido buena, y no hay ninguno en IRT. El tratamiento debe ser agresivo y prolongado por la elevada tasa de recaidas.

Resumen: Se presenta el Documento de Consenso sobre etiopatogenia y diagnóstico de la osteomielitis aguda y la artritis séptica no complicadas elaborado por la Sociedad Española de Infectología Pediátrica, la Sociedad Española de Reumatología Pediátrica y la Sociedad Española de Ortopedia Pediátrica.En este documento se revisan la etiopatogenia y la fisiopatología de la infección osteoarticular aguda en niños, considerada como aquella no complicada, de origen comunitario, que presenta una evolución inferior a 14 días, así como la aproximación clínico-diagnóstica a estas entidades, basándonos en las mejores evidencias científicas disponibles. En función de dichas evidencias, se aportan una serie de recomendaciones para la práctica clínica. Abstract: This is a Consensus Document of the Sociedad Española de Infectología Pediátrica, Sociedad Española de Reumatología Pediátrica and Sociedad Española de Ortopedia Pediátrica on the aetiology and diagnosis of uncomplicated acute osteomyelitis and septic arthritis.A review is presented of the aetiopathogenesis and pathophysiology of acute osteoarticular infection defined as a process with less than 14 days of symptomatology, uncomplicated, and community-acquired. The diagnostic approach to these conditions is summarised based on the best available scientific knowledge. Based on this evidence, a number of recommendations for clinical practice are provided.

Resumen: Presentamos el Documento de Consenso sobre tratamiento de la osteomielitis aguda y la artritis séptica no complicadas, elaborado por la Sociedad Española de Infectología Pediátrica, la Sociedad Española de Reumatología Pediátrica y la Sociedad Española de Ortopedia Pediátrica.En este documento se revisa el abordaje y el tratamiento médico-quirúrgico de la infección osteoarticular aguda, considerada como aquella que presenta una evolución inferior a 14 días, no complicada, de origen comunitario en niños, basándonos en las mejores evidencias científicas disponibles y valorando las diversas opciones disponibles en la actualidad. En función de dichas evidencias, se aportan una serie de recomendaciones para la práctica clínica. Abstract: This is a Consensus Document of the Spanish Society of Paediatric Infectious Diseases (Sociedad Española de Infectología Pediatrica), Spanish Society of Paediatric Rheumatology (Sociedad Española de Reumatología Pediátrica) and the Spanish Society of Paediatric Orthopaedics (Sociedad Española de Ortopedia Pediátrica), on the treatment of uncomplicated acute osteomyelitis and septic arthritis.A review is presented on the medical and surgical treatment of acute osteoarticular infection, defined as a process with less than 14 days of symptomatology, uncomplicated and community-acquired. The different possible options are evaluated based on the best available scientific knowledge, and a number of evidence-based recommendations for clinical practice are provided.

Sarcoidosis is a rare multisystemic granulomatous disease. Pulmonary involvement is common in adults, but any organ can be affected.

TRAPS is a rare lifelong disease. Optimal treatment is not established but tends to rely either on corticosteroids with risks of known short and long term side effects or anti cytokine agents which are expensive, and both types of agents lead to higher risk of infection.

Initial* End* ۵ p Initial* End* ۵ p Initial* End* ۵ p ETA 3.25 0.5 -6 0.00 28 12 -5 0.00 13.2 2.3 -5 0.00 ADA 2.42 0.4 -3 0.01 17 13 -1 0.26 5.58 1.2 -2 0.06 AK 5.36 0.00 -3 0.01 62 9 -2 0.02 69.5 2.9 -2 0.03 TCZ 6.45 0.86 -3 0.01 46 4 -3 0.01 95.6 0.6 -3 0.01 IFX 4.9 0.00 47 6

We identified a consanguineous Moroccan family with three affected siblings diagnosed with rheumatoid factor-negative polyarticular juvenile idiopathic arthritis. They all suffered from an early-onset (2-4 years-old) chronic and symmetric polyarthritis affecting both large and small joints. The joint involvement was markedly erosive in two siblings, with the older sister requiring hip prosthetic replacement at the age of 18 years. None of the patients had fever, skin rash, uveitis or other extra-articular manifestations. Laboratory analyses revealed leukocytosis, thrombocytosis, severe anaemia, marked increase of inflammatory markers and negative results for rheumatoid factor, anti-nuclear antibodies and HLA-B27.

Early diagnosis of macrophage activations syndrome (MAS) in systemic juvenile idiopathic arthritis (sjia) may be challenging because it may mimic the clinical features of the underlying disease or be confused with an infectious complication. However, the diagnostic value of the guidelines for hemophagocytic lymphohistiocytosis (HLH) or sjia-associated MAS has seldom been examined.

Blau syndrome is an autosomal dominant monogenic granulomatous disease associated with gain of function mutations at or near the NACHT domain of NOD2; it is the only form of granulomatous arthritis with a known gene mutation. Although its phenotype has been amply described as a triad of arthritis, uveitis and dermatitis in case series and retrospective cohorts, prospective studies on natural history and outcome have not been done.

Many young people with childhood-onset diseases, including rheumatic diseases, continue to require medical care into adult life. Although there is an extensive evidence base for the need of transitional care, there is a paucity of robust outcome data and a great variability on the models of transitional care.