BackgroundTransition guidelines and recommendations for developing countries are limited and best transition practices in young patients with chronic medical conditions have been poorly examined. This study evaluates transition practices from pediatric to adult rheumatology care in Brazil.MethodsPracticing pediatric rheumatologists registered in the Brazilian Society of Rheumatology were e-surveyed with SurveyMonkey® using the Chira et al. questionnaire that had been used previously to evaluate transition practices of pediatric rheumatologists from the Childhood Arthritis and Rheumatology Research Alliance (CARRA) in the USA and Canada. The questionnaire was modified to better address specific issues pertaining to the Brazilian health care system.ResultsSeventy-six of 112 (68%) pediatric rheumatologists responded. Only 13% of the respondents reported that they had a well-established transition program and only 14% were satisfied with their current transition process. Eighty percent did not use any specific tools to assess transition readiness. While 43% of respondents considered 18 as the ideal transition age, only a third effectively transitioned their patients at that age while 48% did later. Major hurdles for a successful transition cited by the respondents included emotional attachment to the patients (95%) insufficient training in transition practice (87%), lack of devoted time for transition preparation and process (80%), lack of assistance by pediatric generalists, (77%), and lack of available adult subspecialists (75%). Sixty-seven percent of respondents stated that their program would need more tools/resources to facilitate transition and 59% believed that the development of specific guidelines would be useful to standardize and help with the transition process.ConclusionsOur study demonstrates that the identified challenges pertaining to transition in Brazilian patients are similar to those reported by pediatric rheumatologists in the United States and Canada. However, the current financial economic pressures affecting Brazil’s health care system may force physicians to deprioritize non emergent care such as transition. A comprehensive understanding of transition issues specific to youth in developing countries and educating not only patients but also health care providers about the importance of a seamless transition process will support the development of transition guidelines and ensure better outcomes of pediatric subspecialty patients.

Background Mutations along PSTPIP1 gene are associated to two specific conditions, PAPA syndrome and PAMI syndrome, both autoinflammatory disorders associated to disturbances in cytoskeleton formation. Immunological aspects of PAMI syndrome has not yet been reported neither the clinical impact on therapeutical decisions. Methods Clinical data of patients records were retrospectively accessed. Genomic DNA were extracted and sequenced following standard procedures. Peripheral lymphocytes were quantified in T, B e FOXP3 phenotypes. Results We describe two related patients with PAMI syndrome harboring the usual E250K mutation. Anti-IL1 therapy could partially control the disease in the index patient. A broad spectrum of immunological effects as well as an aberrant expression of FOXP3 could be observed. Conclusions Here we report two related brazilian patients with PAMI syndromes harboring the E250K mutation in PSTPIP1, their immunological aspects and the therapeutical response to canakinumab.

In our study, more than half of the joints showed a good response to IIC. Younger patients at diagnosis and uveitis during the course of the disease had good response to IIC. Knees, wrists and elbows were the joints that best responded to IIC. IIC proved to be a safe procedure.

Among patients with demyelinating diseases diagnosed in childhood included in this study there was a high frequency of antinuclear antibody positivity but a lower association with rheumatologic autoimmune diseases than that observed in studies conducted in adults.

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