Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndrome.

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.

SLICC classification criteria for juvenile systemic lupus erythematosus: a cross sectional study.

OBJECTIVES: to verify the sensitivity and specificity of the criteria for systemic lupus erythematosus, proposed by the Systemic Lupus International Collaborating Clinics (SLICC) and compare it to the ACR lupus criteria, in a pediatric population. PATIENTS AND METHODS: this is an observational cohort study, with a descriptive analysis of data from a Pediatric Rheumatology center, including 23 patients with Juvenile Systemic Lupus Erythematosus (jSLE) and a control group of 24 patients with Juvenile Idiopathic Arthritis (JIA), both groups recently diagnosed and virgin of treatment. Information on signs and symptoms was obtained on the diagnostic consult, and the ACR and SLICC criteria were applied to both groups. Statistical analysis on descriptive data was performed, presenting them in absolute and relative frequency and calculating sensitivity and specificity for each set of criteria. RESULTS: by comparing the ACR and SLICC criteria, we obtained higher sensitivity and accuracy using the SLICC criteria (100% and 97.9%, respectively) and equal specificity. Individually, the positive ANA criterion had 100% sensitivity but only 58.3% specificity in both classifications. The other criteria showed low sensitivity and high specificity when individually analyzed; renal disorder, leukopenia or lymphopenia, positive anti-DNA antibody and low complement level were the only criteria with sensitivity above 50%. Arthritis was the least specific criterion. CONCLUSION: our results were similar to previous studies with both children and adults, and classification criteria should be used with caution. The SLICC criteria showed high sensitivity and specificity for the classification of jSLE.

Challenges in transitioning adolescents and young adults with rheumatologic diseases to adult Care in a Developing Country - the Brazilian experience.

BACKGROUND: Transition 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. METHODS: Practicing 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. RESULTS: Seventy-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. CONCLUSIONS: Our 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.

Intra-articular injection in patients with juvenile idiopathic arthritis: factors associated with a good response.

INTRODUCTION: Intra-articular injection of corticosteroids (IIC) for treatment of patients with juvenile idiopathic arthritis (JIA) is increasingly used in Pediatric Rheumatology. OBJECTIVES: To describe the clinical course of patients undergoing IIC in our Pediatric Rheumatology Unit. METHODS: Retrospective study of patients with JIA undergoing IIC from January 2008 to December 2012, with a minimum follow-up of six months after the injection. Good response to IIC was set as the presence of inactivity on the infiltrated joint by at least six months. RESULTS: Eighty-eight patients underwent a total of 165 IICs. Of these, 75% were girls and 35.2% had persistent oligoarticular JIA. The mean age at diagnosis was 6.8 years, and when IIC was carried out, 12.2 years. Regarding patients, younger age at diagnosis (p=0.037) and the occurrence of uveitis in the course of the disease (p=0.015) were associated with good response to IIC. From 165 IICs, 63% had a good response and joints remained inactive for a median of 18.1 months. The type of joint injection (p=0.001), lesser values stated in the overall visual analog scale by the physician (p=0.015) and by parents/patient (p=0.01) have been associated with a good response to IIC. Nine adverse events (5.4%) were observed. CONCLUSION: 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.

Intra-articular injection in patients with juvenile idiopathic arthritis: factors associated with a good response / Infiltração intra-articular em pacientes com artrite idiopática juvenil: fatores associados à boa resposta

ABSTRACT Introduction: Intra-articular injection of corticosteroids (IIC) for treatment of patients with juvenile idiopathic arthritis (JIA) is increasingly used in Pediatric Rheumatology. Objectives: To describe the clinical course of patients undergoing IIC in our Pediatric Rheumatology Unit. Methods: Retrospective study of patients with JIA undergoing IIC from January 2008 to December 2012, with a minimum follow-up of six months after the injection. Good response to IIC was set as the presence of inactivity on the infiltrated joint by at least six months. Results: Eighty-eight patients underwent a total of 165 IICs. Of these, 75% were girls and 35.2% had persistent oligoarticular JIA. The mean age at diagnosis was 6.8 years, and when IIC was carried out, 12.2 years. Regarding patients, younger age at diagnosis (p = 0.037) and the occurrence of uveitis in the course of the disease (p = 0.015) were associated with good response to IIC. From 165 IICs, 63% had a good response and joints remained inactive for a median of 18.1 months. The type of joint injection (p = 0.001), lesser values stated in the overall visual analog scale by the physician (p = 0.015) and by parents/patient (p = 0.01) have been associated with a good response to IIC. Nine adverse events (5.4%) were observed. Conclusion: 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.

RESUMO Introdução: A infiltração intra-articular de corticosteroides (IIC) para tratamento de pacientes com artrite idiopática juvenil (AIJ) é cada vez mais usada em reumatologia pediátrica. Objetivos: Descrever a evolução clínica dos pacientes submetidos à IIC em nosso setor de reumatologia pediátrica. Métodos: Estudo retrospectivo de pacientes com AIJ submetidos à IIC de janeiro/2008 a dezembro/2012, com seguimento mínimo de seis meses após a infiltração. Boa resposta à IIC foi definida como inatividade na articulação infiltrada por, no mínimo, seis meses. Resultados: Foram submetidos a 88 pacientes a 165 IICs. Desses, 75% eram meninas e 35,2% apresentavam AIJ oligoarticular persistente. A média de idade ao diagnóstico foi de 6,8 anos e à IIC de 12,2 anos. Em relação aos pacientes, a menor idade ao diagnóstico (p = 0,037) e a ocorrência de uveíte no curso da doença (p = 0,015) foram associados à boa resposta à IIC. Das 165 IICs, 63% apresentaram boa resposta e as articulações permaneceram inativas por um tempo médio de 18,1 meses. O tipo de articulação infiltrada (p = 0,001), menores valores na escala visual analógica global do médico (p = 0,015) e dos pais/paciente (p = 0,01) foram associados a uma boa resposta à IIC. Nove efeitos adversos (5,4%) foram observados. Conclusão: Em nosso estudo, mais da metade das articulações mostrou boa resposta à IIC. Os pacientes com menor idade ao diagnóstico e uveíte durante o curso da doença tiveram boa resposta à IIC. Os joelhos, punhos e cotovelos foram as articulações que mais bem responderam à IIC. A IIC mostrou ser um procedimento seguro.

Intra-articular injection in patients with juvenile idiopathic arthritis: factors associated with a good response. / Infiltração intra-articular em pacientes com artrite idiopática juvenil: fatores associados à boa resposta.

INTRODUCTION: Intra-articular injection of corticosteroids (IIC) for treatment of patients with juvenile idiopathic arthritis (JIA) is increasingly used in Pediatric Rheumatology. OBJECTIVES: To describe the clinical course of patients undergoing IIC in our Pediatric Rheumatology Unit. METHODS: Retrospective study of patients with JIA undergoing IIC from January 2008 to December 2012, with a minimum follow-up of six months after the injection. Good response to IIC was set as the presence of inactivity on the infiltrated joint by at least six months. RESULTS: Eighty-eight patients underwent a total of 165 IICs. Of these, 75% were girls and 35.2% had persistent oligoarticular JIA. The mean age at diagnosis was 6.8 years, and when IIC was carried out, 12.2 years. Regarding patients, younger age at diagnosis (p=0.037) and the occurrence of uveitis in the course of the disease (p=0.015) were associated with good response to IIC. From 165 IICs, 63% had a good response and joints remained inactive for a median of 18.1 months. The type of joint injection (p=0.001), lesser values stated in the overall visual analogue scale by the physician (p=0.015) and by parents/patient (p=0.01) have been associated with a good response to IIC. Nine adverse events (5.4%) were observed. CONCLUSION: 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.