Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease.

Sideroblastic anaemia, B-cell immunodeficiency, periodic fever and developmental delay (SIFD) is caused by mutations of TRNT1, an enzyme essential for mitochondrial protein synthesis, and has been reported in 23 cases. A 6-month-old girl was evaluated with recurrent fever, failure to thrive, skin lesions and anaemia. She received blood transfusions and empirical antibiotics. Skin lesions, previously interpreted as insect bites, consisted of numerous firm asymptomatic erythematous papules and nodules, distributed over trunk and limbs. Skin histopathology revealed an intense dermal neutrophilic infiltrate extending to the subcutaneous, with numerous atypical myeloid cells, requiring the diagnosis of leukaemia cutis, to be ruled out. Over the follow-up, she developed herpetic stomatitis, tonsillitis, lobar pneumonia and Metapneumovirus tracheitis, and also deeper skin lesions, resembling panniculitis. Hypogammaglobulinaemia was diagnosed. An autoinflammatory disease was confirmed by whole exome sequencing: heterozygous mutations for TRNT1 NM_182916 c.495_498del, p.F167Tfs * 9 and TRNT1 NM_182916 c.1246A>G, p.K416E. The patient has been treated with subcutaneous immunoglobulin and etanercept. She presented with developmental delay and short stature for age. The fever, anaemia, skin neutrophilic infiltration and the inflammatory parameters improved. We describe a novel mutation in SIFD and the first to present skin manifestations, namely neutrophilic dermal and hypodermal infiltration.

Sleep, quality of life and mood of nursing professionals of pediatric intensive care units.

OBJECTIVE: To assess sleep, quality of life and mood of nursing professionals of pediatric intensive care units. METHOD: Quantitative, cross-sectional and descriptive study. Professionals grouped by morning, afternoon and evening shifts were assessed by means of the instruments: Morningness-Eveningness Questionnaire; Pittsburgh Sleep Quality Index; Epworth Sleepiness Scale; Generic questionnaire for the assessment of quality of life (SF-36); Beck Depression Inventory; Beck Anxiety Inventory; State-Trait Anxiety Inventory. RESULTS: Sample consisted of 168 professionals, with prevalence of neutral typology (57.49%). There was no statistical significance regarding sleep, despite scores showing a poor quality of sleep and excessive daytime sleepiness for the three shifts. Quality of life did not reveal any statistical significance, but in the field "social role functioning" of the evening shift, a lower score was observed (p<0.007). There was no statistical significance regarding levels of anxiety and depression. CONCLUSION: The results suggest that these professionals may present sleeping problems, but they do not have lower scores of quality of life or mood disorders. Likely explanations for these findings may include an adaptation to their work type over time and the fact that working with children is rewarding. OBJETIVO: Avaliar sono, qualidade de vida e humor em profissionais de enfermagem em Unidades de Terapia Intensiva Infantil. MÉTODO: Estudo quantitativo, transversal e descritivo. Profissionais agrupados por turnos matutino, vespertino e noturno foram avaliados pelos instrumentos: Questionário de identificação Matutinidade-Vespertinidade; Índice de qualidade do sono de Pittsburgh; Escala de sonolência Epworth; Questionário genérico de avaliação de qualidade de vida - SF-36; Inventário de depressão de Beck; Inventário de ansiedade de Beck; Inventário de ansiedade Traço-Estado. RESULTADOS: Amostra composta por 168 profissionais, predominando tipologia neutra, 57,49%. Não houve significância estatística quanto ao sono, apesar dos escores mostrarem qualidade ruim e sonolência diurna excessiva para os três turnos. A qualidade de vida não denotou diferença estatística, mas no domínio "aspecto social" do turno noturno, observou-se escore pior (p<0,007). Não houve significância estatística nos níveis de ansiedade e depressão. CONCLUSÃO: Os resultados sugerem que estes profissionais podem apresentar problemas no sono, entretanto não apresentam escores mais baixos de qualidade de vida ou transtornos do humor. Possíveis explicações para estes achados são que haja uma adaptação ao regime de trabalho ao longo do tempo e que trabalhar com crianças seja recompensador.

EARLY DETECTION OF POOR ADHERENCE TO TREATMENT OF PEDIATRIC RHEUMATIC DISEASES: PEDIATRIC RHEUMATOLOGY ADHERENCE QUESTIONNAIRE - A PILOT STUDY.

OBJECTIVE: To develop a questionnaire that allows the early detection of patients at risk for poor adherence to medical and non-medical treatment in children and adolescents with chronic rheumatic diseases. METHODS: The Pediatric Rheumatology Adherence Questionnaire (PRAQ) was applied in recently diagnosed patients within a period of one to four months after confirmation of the rheumatic disease. After six months, the patients' adherence to the medical and non-medical treatment was assessed. An internal consistency analysis was conducted to eliminate redundant questions in the PRAQ. RESULTS: A total of 33 patients were included in the pilot study. Six months after the PRAQ had been applied, poor global adherence was observed in seven (21.2%) patients and poor adherence to medical treatment in eight (24.2%) patients. No correlation was observed between the PRAQ scores and the percentages of adherence, as well as the stratification for each index, except for a tendency to a correlation between socioeconomic index and poor adherence to medical treatment (p=0.08). A new PRAQ questionnaire with 25 of the 46 original questions was generated as a result of the reliability analysis. CONCLUSIONS: The usefulness of this questionnaire in clinical practice should be still evaluated. Due to the importance of a tool for the early detection of rheumatic patients at risk of poor adherence to treatment, the new PRAQ questionnaire should be reviewed and applied in a larger study to better define its validity and reliability.

Psychological characteristics of caregivers of pediatric patients with chronic rheumatic disease in relation to treatment adherence.

BACKGROUND: Adherence to treatment for chronic diseases is lower in children than in adults, less extensively studied in children and is associated with multiple related factors. The aim of this study is to perform a descriptive analysis of psycho-cognitive aspects of primary caregivers of pediatric patients with chronic rheumatic diseases, as well as socioeconomic and clinical factors, family functioning and treatment satisfaction. METHODS: Primary caregivers of 90 patients were included. Pairs (caregiver plus patient) were grouped as presenting good adherence (n = 50) or poor adherence (n = 40) according to the Morisky Adherence Test. Psycho-cognitive aspects were evaluated by Adult Self-Report and Wechsler Adult Intelligence Scale tests. For statistical comparisons, quantitative variables with normal distribution were analyzed by Student's t test, and those with non-Gaussian distribution with the Mann Whitney test. Categorical variables were analyzed by Chi square test. A multivariate logistic regression analysis was performed to estimate the contribution of the independent variables to adherence. RESULTS: Compared to caregivers in the good adherence group, caregivers in the poor adherence group were more likely to be classified as clinical on the scales for attention problems and externalizing problems, which include impulsiveness and aggressiveness. They also scored higher on the depressive problem scale. In addition, the average number of children per caregiver and the mean age of caregivers and patients were significantly higher in the poor adherence group, while the proportion of caregivers with higher education was lower. The poor adherence group also included a higher incidence of pediatric patients assuming sole responsibility for managing medications. Economic status, clinical factors, treatment satisfaction, family functioning and caregiver cognitive profile were not related to adherence, except for working memory index. CONCLUSION: Older patients, patients as the one solely responsible for medication management, and caregivers with externalizing problems, were observed to be the most strongly associated to poor adherence. Interventions aimed at adolescent patients are needed. Also, psychological programs and interventional studies to better determine caregivers' behavioral/emotional status, and parent-child relationships are recommended.

Patients with juvenile idiopathic arthritis in clinical remission with positive power Doppler signal in joint ultrasonography have an increased rate of clinical flare: a prospective study.

BACKGROUND: Ultrasonography (US) studies carried out on joints of juvenile idiopathic arthritis (JIA) patients in clinical remission demonstrate the presence of subclinical synovitis. The significance of subclinical synovitis and the positive power Doppler (PD) signal on US in JIA in clinical remission is not well understood. The objectives of this study were to assess whether the changes detected by US in patients with JIA in clinical remission can predict disease flare and to evaluate factors associated with flare and joint damage over 30 months of follow-up. METHODS: A prospective study was performed with clinical and ultrasound evaluation in 34 joints of JIA patients in clinical remission. Clinical evaluation including physical exam, functional capacity and inflammatory markers was performed at baseline and every six months thereafter, for a total period of 30 months. US evaluation included presence of synovitis, PD signal and erosion at baseline and every 12 months thereafter. Subclinical synovitis was defined when there was synovitis with or without positive PD signal in US joints of patients in clinical remission. Flare was defined as any joint presenting clinical arthritis requiring therapy modification. RESULTS: We evaluated a total of 35 patients, 28 (80%) girls, 14 (40%) persistent oligoarticular subtype, 12 (34.3%) oligoarticular extended and 9 (25.7%) polyarticular and 26 (74.3%) in remission on medication. Twenty (57.1%) patients flared. The risk of flare was five times higher in patients with positive PD signal and 14 times higher in patients in remission on medication. Regarding the assessment of joints after 6 months and 12 months of US evaluation, 70/3162 (2.2%) joints and 80/2108 (3.8%) joints flared, respectively. Joints with subclinical synovitis with positive PD signal flared more after 6 and 12 months. Twenty five of 2108 (1.2%) joints showed erosion over time. Joints with subclinical synovitis with or without positive PD signal showed more erosion. CONCLUSIONS: Patients in remission on medication with subclinical synovitis with positive PD signal on US have a higher risk of flare, therefore they should be monitored closely during treatment. In the same way, joints with subclinical synovitis with or without positive PD signal should be monitored due to the risk of flare and joint damage.

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.

Early detection of poor adherence to treatment of pediatric rheumatic diseases: pediatric rheumatology adherence questionnaire - a pilot study / Detecção precoce da má adesão ao tratamento em doenças reumáticas pediátricas: questionário de adesão em reumatologia pediátrica - estudo piloto

ABSTRACT Objective: To develop a questionnaire that allows the early detection of patients at risk for poor adherence to medical and non-medical treatment in children and adolescents with chronic rheumatic diseases. Methods: The Pediatric Rheumatology Adherence Questionnaire (PRAQ) was applied in recently diagnosed patients within a period of one to four months after confirmation of the rheumatic disease. After six months, the patients' adherence to the medical and non-medical treatment was assessed. An internal consistency analysis was conducted to eliminate redundant questions in the PRAQ. Results: A total of 33 patients were included in the pilot study. Six months after the PRAQ had been applied, poor global adherence was observed in seven (21.2%) patients and poor adherence to medical treatment in eight (24.2%) patients. No correlation was observed between the PRAQ scores and the percentages of adherence, as well as the stratification for each index, except for a tendency to a correlation between socioeconomic index and poor adherence to medical treatment (p=0.08). A new PRAQ questionnaire with 25 of the 46 original questions was generated as a result of the reliability analysis. Conclusions: The usefulness of this questionnaire in clinical practice should be still evaluated. Due to the importance of a tool for the early detection of rheumatic patients at risk of poor adherence to treatment, the new PRAQ questionnaire should be reviewed and applied in a larger study to better define its validity and reliability.

RESUMO Objetivo: Desenvolver um questionário que permitisse a detecção precoce de pacientes em risco de má adesão ao tratamento medicamentoso e não medicamentoso para crianças e adolescentes com doenças reumáticas crônicas. Métodos: O Questionário de Adesão em Reumatologia Pediátrica (QARP) foi aplicado em pacientes recentemente diagnosticados, de um a quatro meses após a confirmação da doença reumática. Seis meses depois, foi avaliada a adesão do paciente ao tratamento medicamentoso e não medicamentoso. Foi realizada uma análise de consistência interna para eliminar questões redundantes no QARP. Resultados: Ao todo, 33 pacientes foram incluídos no estudo-piloto. Seis meses após a aplicação do QARP, observou-se baixa adesão global em sete pacientes (21,2%) e baixa adesão ao tratamento medicamentoso em oito (24,2%) pacientes. Não foi encontrada correlação entre os escores QARP e as porcentagens de adesão, bem como a estratificação para cada indicador, com exceção de uma tendência a uma correlação entre o indicador socioeconômico e a baixa adesão ao tratamento medicamentoso (p=0,08). Um novo questionário QARP com 25 das 46 perguntas originais foi gerado como resultado da análise de confiabilidade. Conclusões: A utilidade deste questionário na prática clínica ainda deve ser avaliada. Devido à importância de uma ferramenta para a detecção precoce de pacientes reumáticos em risco de má adesão ao tratamento, o novo questionário QARP deve ser revisado e aplicado em um estudo maior para que sua validade e confiabilidade sejam mais bem definidas.

Association between the ultrasonographic and clinical findings in the hips of patients with juvenile idiopathic arthritis.

OBJECTIVE: To describe the ultrasonographic (US) findings in the hips of patients with juvenile idiopathic arthritis (JIA) and the association between these findings and the signs, symptoms, and activity of the disease. MATERIALS AND METHODS: The present retrospective study included 92 patients with JIA. The disease subtypes, age at disease onset, length of disease progression, disease activity, and clinical manifestations of the hip pathology were assessed. US examinations were routinely performed, and the images were analysed by two ultrasonographers who were blinded to the patients' clinical conditions. RESULTS: Of the 92 patients included in the study, 69.6% were girls, and the average age was 12.4 ± 5.1 years. Thirty-three (35.9%) participants exhibited the persistent oligoarticular subtype, and 30 (32.6%) exhibited the rheumatoid factor (RF)-negative polyarticular subtype. Forty-four participants exhibited signs and/or symptoms of hip pathology. Twenty-nine (31.5%) participants exhibited abnormal US findings, and 34.4% exhibited subclinical synovitis. The US alterations exhibited an association with subclinical synovitis in 34.4% of the cases. The US alterations bore a correlation with the presence of hip-related signs and/ or symptoms (P = 0.021), particularly joint limitations (P = 0.006), but were not correlated with the disease activity (P = 0.948) or subtype (P = 0.108). Clinical synovitis was associated with polyarticular involvement (P = 0.002) and disease activity (P = 0.017). Subclinical synovitis was not correlated with the investigated variables. CONCLUSION: Clinical affection of the hip in JIA, particularly joint limitation, is associated with synovitis (revealed by US assessment) independently of the activity and subtype of the disease. Therefore, healthcare professionals should consider the possible occurrence of silent disease and subclinical synovitis, which might contribute to hip deterioration.

Sleep, quality of life and mood of nursing professionals of pediatric intensive care units / Sueño, calidad de vida y humor en profesionales de enfermería en unidades de cuidados intensivos infantiles / Sono, qualidade de vida e humor em profissionais de enfermagem em Unidades de Terapia Intensiva Infantil

Abstract OBJECTIVE To assess sleep, quality of life and mood of nursing professionals of pediatric intensive care units. METHOD Quantitative, cross-sectional and descriptive study. Professionals grouped by morning, afternoon and evening shifts were assessed by means of the instruments: Morningness-Eveningness Questionnaire; Pittsburgh Sleep Quality Index; Epworth Sleepiness Scale; Generic questionnaire for the assessment of quality of life (SF-36); Beck Depression Inventory; Beck Anxiety Inventory; State-Trait Anxiety Inventory. RESULTS Sample consisted of 168 professionals, with prevalence of neutral typology (57.49%). There was no statistical significance regarding sleep, despite scores showing a poor quality of sleep and excessive daytime sleepiness for the three shifts. Quality of life did not reveal any statistical significance, but in the field "social role functioning" of the evening shift, a lower score was observed (p<0.007). There was no statistical significance regarding levels of anxiety and depression. CONCLUSION The results suggest that these professionals may present sleeping problems, but they do not have lower scores of quality of life or mood disorders. Likely explanations for these findings may include an adaptation to their work type over time and the fact that working with children is rewarding.

Resumen OBJETIVO Evaluar el sueño, la calidad de vida y el humor en profesionales de enfermería en Unidades de Cuidados Intensivos Infantiles. MÉTODO Estudio cuantitativo, transversal y descriptivo. Profesionales agrupados por turno matutino, vespertino y nocturno fueron evaluados por los instrumentos: Cuestionario de identificación Matutinidad-Vespertinidad; Índice de calidad del sueño de Pittsburgh; Escala de somnolencia de Epworth; Cuestionario genérico de evaluación de calidad de vida - SF-36; Inventario de depresión de Beck; Inventario de ansiedad de Beck; Inventario de ansiedad Trazo-Estado. RESULTADOS Muestra compuesta de 168 profesionales, predominando la tipología neutra en el 57,49%. No hubo significación estadística en cuanto al sueño, pese a que los puntajes muestren mala calidad y somnolencia diurna excesiva para los tres turnos. La calidad de vida no denotó diferencia estadística, pero en el dominio "aspecto social" del turno nocturno, se observó puntaje peor (p<0,007). No hubo significación estadística en los niveles de ansiedad y depresión. CONCLUSIÓN Los resultados sugieren que esos profesionales pueden presentar problemas en el sueño, sin embargo no presentan puntajes más bajos de calidad de vida o trastornos del humor. Posibles explicaciones para dichos hallazgos son que exista una adaptación al régimen laboral a lo largo del tiempo y que trabajar con niños sea recompensador.

Resumo OBJETIVO Avaliar sono, qualidade de vida e humor em profissionais de enfermagem em Unidades de Terapia Intensiva Infantil. MÉTODO Estudo quantitativo, transversal e descritivo. Profissionais agrupados por turnos matutino, vespertino e noturno foram avaliados pelos instrumentos: Questionário de identificação Matutinidade-Vespertinidade; Índice de qualidade do sono de Pittsburgh; Escala de sonolência Epworth; Questionário genérico de avaliação de qualidade de vida - SF-36; Inventário de depressão de Beck; Inventário de ansiedade de Beck; Inventário de ansiedade Traço-Estado. RESULTADOS Amostra composta por 168 profissionais, predominando tipologia neutra, 57,49%. Não houve significância estatística quanto ao sono, apesar dos escores mostrarem qualidade ruim e sonolência diurna excessiva para os três turnos. A qualidade de vida não denotou diferença estatística, mas no domínio "aspecto social" do turno noturno, observou-se escore pior (p<0,007). Não houve significância estatística nos níveis de ansiedade e depressão. CONCLUSÃO Os resultados sugerem que estes profissionais podem apresentar problemas no sono, entretanto não apresentam escores mais baixos de qualidade de vida ou transtornos do humor. Possíveis explicações para estes achados são que haja uma adaptação ao regime de trabalho ao longo do tempo e que trabalhar com crianças seja recompensador.

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.

Association between vitamin D levels and adolescent idiopathic scoliosis / Associação entre os níveis de vitamina D e a escoliose idiopática do adolescente / Asociación entre los niveles de vitamina D y la escoliosis idiopática do adolescente

Objective: To compare the levels of 25-hydroxyvitamin D in patients with AIS and a control group. Methods: The patients were recruited from the outpatient clinic of our institution during the year of 2013. Children diagnosed with scoliosis before 10 or after 18 years of age, and those suffering from neurological or muscular disorders, congenital malformations or genetic syndromes were excluded. The 25-OHD levels were determined by a fully automated electrochemiluminescence test. The appropriate level of 25-OHD was defined as greater than 30 ng/mL. The results were compared to a group of healthy individuals. Results: In group 1 (control) 63,3% showed abnormal vitamin D levels, while 91% of patients with AIS presented a low level of vitamin D. The mean BMI was 19.6 kg/m2 for controls and 20.3 kg/m2 for group 2. Statistical analysis showed significant difference (p<0.0001) between the levels of vitamin D. The average and minimum levels of vitamin D were respectively 27 and 13.6 ng/mL for group 1 and 18.8 and 3.13 ng/mL for AIS group. Conclusions: Patients with AIS had statistically significant lower levels of 25-OHD than healthy patients. Further research should be conducted to investigate the actual impact of serum vitamin D levels on the pathophysiology of AIS. .

Objetivo: Comparar os níveis de 25-hidroxivitamina D em pacientes com EIA e um grupo controle. Métodos: Os pacientes foram recrutados no ambulatório de nossa instituição durante 2013. Crianças com escoliose diagnosticada antes de 10 ou após 18 anos de idade, portadoras de distúrbios neurológicos ou musculares, deformidades congênitas ou síndromes genéticas foram excluídas. Os níveis de 25-OHD foram determinados por teste de eletroquimioluminescência totalmente automatizado. O nível adequado de 25-OHD foi definido como acima de 30 ng/ml. Os resultados foram comparados a um grupo de indivíduos saudáveis. Resultados: No grupo 1 (controle), 63,3 % apresentaram níveis anormais de vitamina D, enquanto 91% dos pacientes portadores de EIA apresentaram baixo nível de vitamina D. A média do IMC foi de 19,6 kg/m2 para os controles e 20,3 kg/m2 no grupo 2. A análise estatística demonstrou diferença relevante (p < 0,0001) entre os níveis de vitamina D. A média e os valores mínimos de vitamina D foram respectivamente 27 e 13,6 ng/ml para o grupo 1 e 18,8 e 3,13 ng/ml para o grupo EIA. Conclusões: Pacientes portadores de EIA tinham níveis de 25-OHD mais baixos do que os pacientes saudáveis, com significância estatística. O presente ...

Objetivo: Comparar los niveles de 25-hidroxivitamina D en pacientes con EIA y un grupo control. Métodos: Los pacientes fueron reclutados en el ambulatorio de nuestra institución durante el año de 2013. Se excluyeron los niños diagnosticados con escoliosis antes de 10 años o después de 18 años, y quienes sufren de trastornos neurológicos o musculares, malformaciones congénitas o síndromes genéticos. Los niveles de 25-OHD se determinaron mediante un ensayo de electroquimiolumniscencia totalmente automatizado. El nivel apropiado de 25-OHD se define como mayor que 30 ng/ml. Los resultados se compararon con un grupo de individuos sanos. Resultados: En el grupo 1 (control), 63,3% tenían niveles anormales de vitamina D, mientras que el 91% de los pacientes con EIA mostraron bajo nivel de vitamina D. El IMC promedio fue 19,6 Kg./m2 para los controles y 20,3 Kg./m2 para el grupo 2. El análisis estadístico mostró diferencias significativas (p < 0,0001) entre los niveles de vitamina D. Los valores medios y mínimos de vitamina D fueron respectivamente 27 y 13,6 ng/ml para el grupo 1 y 18,8 y 3,13 ng/ml para el grupo EIA. Conclusiones: Los pacientes con EIA tenían niveles más bajos de 25-OHD que los pacientes sanos, con significación estadística. Este estudio sugiere que la deficiencia ...

Associação entre achados ultrassonográficos e clínicos do quadril de pacientes com artrite idiopática juvenil / Association between the ultrasonographic and clinical findings in the hips of patients with juvenile idiopathic arthritis

OBJETIVO: Descrever os achados ultrassonográficos do quadril em pacientes com artrite idiopática juvenil (AIJ) e sua associação com sinais, sintomas e atividade da doença. MATERIAIS E MÉTODOS: Estudo retrospectivo com 92 pacientes com AIJ. Foram avaliados os subtipos da doença, a idade de início, o tempo de evolução, a atividade da doença e as manifestações clínicas do envolvimento do quadril. A avaliação ultrassonográfica foi realizada na rotina dos pacientes, e as imagens foram analisadas por dois ultrassonografistas cegos em relação às condições clínicas dos pacientes. RESULTADOS: Do total de 92 pacientes, 69,6% eram meninas, com média de idade de 12,4 ± 5,1 anos. Trinta e três (35,9%) apresentaram subtipo oligoarticular persistente e trinta (32,6%) poliarticular com fator reumatoide negativo. Quarenta e quatro (47,8%) apresentaram sinal e/ou sintoma relacionado ao quadril. Vinte e nove (31,5%) apresentaram alterações ultrassonográficas, com sinovite subclínica em 34,4%. As alterações ultrassonográficas se associaram com presença de sinais e/ou sintomas do quadril (P = 0,021), especialmente limitação articular (P = 0,006), mas não com atividade (P = 0,948) ou subtipo de doença (P = 0,108). Sinovite clínica se associou com comprometimento poliarticular (P = 0,002) e atividade de doença (P = 0,017). Não houve associação entre sinovite subclínica e as variáveis estudadas. CONCLUSÃO: O acometimento clínico do quadril na AIJ, especialmente a limitação articular, está associado à sinovite na avaliação por US, independente do subtipo e da atividade da doença. Os profissionais de saúde devem estar atentos à possibilidade de doença silenciosa com sinovite subclínica, que pode contribuir para a deterioração da articulação do quadril.

OBJECTIVE: To describe the ultrasonographic (US) findings in the hips of patients with juvenile idiopathic arthritis (JIA) and the association between these findings and the signs, symptoms, and activity of the disease. MATERIALS AND METHODS: The present retrospective study included 92 patients with JIA. The disease subtypes, age at disease onset, length of disease progression, disease activity, and clinical manifestations of the hip pathology were assessed. US examinations were routinely performed, and the images were analysed by two ultrasonographers who were blinded to the patients' clinical conditions. RESULTS: Of the 92 patients included in the study, 69.6% were girls, and the average age was 12.4 ± 5.1 years. Thirty-three (35.9%) participants exhibited the persistent oligoarticular subtype, and 30 (32.6%) exhibited the rheumatoid factor (RF)-negative polyarticular subtype. Forty-four participants exhibited signs and/or symptoms of hip pathology. Twentynine (31.5%) participants exhibited abnormal US findings, and 34.4% exhibited subclinical synovitis. The US alterations exhibited an association with subclinical synovitis in 34.4% of the cases. The US alterations bore a correlation with the presence of hip-related signs and/ or symptoms (P = 0.021), particularly joint limitations (P = 0.006), but were not correlated with the disease activity (P = 0.948) or subtype (P = 0.108). Clinical synovitis was associated with polyarticular involvement (P = 0.002) and disease activity (P = 0.017). Subclinical synovitis was not correlated with the investigated variables. CONCLUSION: Clinical affection of the hip in JIA, particularly joint limitation, is associated with synovitis (revealed by US assessment) independently of the activity and subtype of the disease. Therefore, healthcare professionals should consider the possible occurrence of silent disease and subclinical synovitis, which might contribute to hip deterioration.

Juvenile dermatomyositis (JDM) and severe pulmonary involvement: case report / Dermatomiosite juvenil (DMJ) e comprometimento pulmonar grave: relato de caso

A dermatomiosite juvenil (DMJ) é uma doença inflamatória não supurativa dos músculos esqueléticos e da pele.Outros órgãos podem estar envolvidos, como, por exemplo, os pulmões. As complicações pulmonares estão associadas a altas taxas de morbimortalidade e podem ocorrer na fase aguda da doença. Devido à raridade, dificuldade no diagnóstico e gravidade do acometimento pulmonar, relatamos o caso de uma menina de 3 anos com DMJ e envolvimento pulmonar que evoluiu para óbito.

Juvenile dermatomyositis (JDM) is an inflammatory, non-pustular disorder of skeletal muscles and skin. Other organs, such as the lungs, can be involved. Pulmonary complications are associated with high morbimortality rates and can develop in the acute phase of the disease. Due to its rarity, diagnosis difficulty and severity pulmonary involvement, we report the case of a 3-year-old girl with JDM and pulmonary involvement and evolution to death.

Síndrome DRESS e lúpus eritematoso sistêmico juvenil em menina de dois anos de idade / DRESS syndrome and juvenile systemic lupus erythematosus in a two year old girl

A síndrome DRESS (drug rash with eosinophilia andsystemic symptoms - erupção à droga com eosinofilia e sintomas sistêmicos) é uma reação adversa a medicamentos com características sistêmicas, que inclui, principalmente, erupção cutânea grave, febre, linfadenopatia, hepatite e anormalidades hematológicas (hipereosinofilia e linfocitose atípica). A taxa de mortalidade é de aproximadamente 10 por cento. É rara na faixa etária pediátrica, com poucos casos descritos. Por causa da raridade desta reação e da dificuldade e importância de seu reconhecimento, relata-se o caso de uma menina de dois anos de idade com DRESS associado a lúpus eritematoso sistêmico juvenil (LESj).

DRESS syndrome (drug rash with eosinophilia and systemic symptoms) consists in an adverse reaction to some drugs characterized by systemic features such as severe cutaneous eruption, fever, lymphadenopathy, hepatitis and hematological abnormalities (hypereosinophilia and atypical lymphocytosis). Mortality rate accounts to 10 percent. The low prevalence in children and small number of published cases, increase the difficulty and importance of a prompt diagnosis of this syndrome in pediatric patients. This is a report of one case of DRESS in association with juvenile systemic lupus erithematosus in a two year old girl.