Autoinflammatory diseases: a Latin American multicenter study according to age and sex / Doenças autoinflamatórias: um estudo multicêntrico latino-americano de acordo com o sexo e a idade

ABSTRACT Objective: To evaluate autoinflammatory diseases (AID) according to age at diagnosis and sex, and response to therapy in a large population. Methods: This is a cross-sectional observational study of a Latin American registry using a designed web system for data storage, collected between 2015 and 2018. Any altered findings during follow-up were recorded. The forms were translated into Portuguese and Spanish, including demographic, clinical, laboratory, genetic and treatment characteristics. Results: We included 152 patients, 51.3% male and 75% Caucasian. The median age at disease onset was 2.1 years (0-15.6 years) and median age at diagnosis 6.9 years (0-21.9 years); 111 (73%) were children (0-9 years old), and 41 (27%) were adolescents and young adults (AYA) (10-21 years old). Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA) occurred in 46/152 (30%), chronic non-bacterial osteomyelitis (CNO) in 32/152 (21%), and familial Mediterranean fever (FMF) in 24/152 (15.7%). PFAPA was significantly higher in young children than in AYA (38.7% vs. 7.3%, p<0.001), while CNO were lower (13.5% vs. 41.5%, p<0.001). The frequency of females was significantly higher in CNO (28.4% vs. 14.1%, p=0.031) and lower in FMF (8.1% vs. 23.1%, p=0.011). The most used drugs were glucocorticoids, non-steroidal anti-inflammatory drugs (NSAID), and colchicine. Glucocorticoids and colchicine treatment were used in all AID with good to moderate response. However, cryopyrin-associated periodic syndromes (CAPS) seemed unresponsive to glucocorticoids. NSAIDs and methotrexate were the main medications used to treat CNO. Conclusions: Differences among AID patients were observed in the LA population regarding sex and age at disease diagnosis.

RESUMO Objetivo: Avaliar as doenças autoinflamatórias (DAI) de acordo com sexo e idade no momento do diagnóstico e a resposta terapêutica em uma grande população. Métodos: Este é um estudo observacional transversal de um registro latino-americano que usou um sistema de dados coletados entre 2015 e 2018. Quaisquer achados alterados ao longo do acompanhamento foram registrados. Os formulários foram traduzidos para os idiomas português e espanhol, incluindo características demográficas, clínicas, laboratoriais, genéticas e de tratamento. Resultados: Incluímos 152 pacientes, sendo 51,3% do sexo masculino e 75% da raça branca. A média de idade de início da doença foi de 2,1 anos (0-15,6 anos) e a média de idade de diagnóstico 6,9 anos (0-21,9 anos); 111 (73%) eram crianças (0-9 anos) e 41 (27%) adolescentes/adultos jovens (10-21 anos). A síndrome de febre periódica, estomatite aftosa, faringite e adenite (PFAPA) ocorreu em 46/152 (30%), osteomielite não bacteriana crônica (CNO) em 32/152 (21%) e febre familiar do Mediterrâneo (FMF) em 24/152 (15,7%). A PFAPA foi significativamente maior em crianças pequenas (38,7 vs. 7,3%, p<0,001), e a CNO, em adolescentes/adultos jovens (13,5 vs. 41,5%, p<0,001). A frequência do sexo feminino foi significativamente maior na CNO (28,4 vs. 14,1%, p=0,031) e menor na FMF (8,1 vs. 23,1%, p=0,011). Os medicamentos mais utilizados foram glicocorticoides, anti-inflamatórios não esteroidais (AINE) e colchicina. O tratamento com glicocorticoides e colchicina foi usado em todas as DAI com resposta boa a moderada. No entanto, as síndromes periódicas associadas à criopirina (CAPS) pareciam não responder aos glicocorticoides. AINE e metotrexato foram os principais medicamentos utilizados no tratamento da CNO. Conclusões: Diferenças de pacientes com DAI foram observadas na população latino-americana em pacientes agrupados por sexo e idade ao diagnóstico da doença.

Application and performance of disease activity indices proposed for patients with systemic sclerosis in an international cohort of patients with juvenile systemic sclerosis.

Objectives: Juvenile systemic sclerosis is a rare childhood disease. Three disease activity indices have been published for adult patients with systemic sclerosis: the European Scleroderma Study Group Index, a modified version of the European Scleroderma Study Group Index and the revised European Scleroderma Trials and Research index. The objective of this study was to determine the feasibility and performance of the three disease activity indices in a prospectively followed cohort of patients with juvenile systemic sclerosis. Methods: The analysis cohort was selected from the prospective international inception cohort enrolling juvenile systemic sclerosis patients. The correlation of the disease activity indices with the physicians' and the patients' global assessment of disease activity was determined. The disease activity indices were compared between patients with active and inactive disease. Sensitivity to change between 6- and 12-month follow-up was investigated by mixed models. Results: Eighty percent of the 70 patients had a diffuse cutaneous subtype. The revised European Scleroderma Trials and Research index was highly correlated with the physician-reported global disease activity/parents-reported global disease activity (r = 0.74/0.64), followed by the European Scleroderma Study Group activity index (r = 0.61/0.55) and the modified version of the European Scleroderma Study Group activity index (r = 0.51/0.43). The disease activity indices significantly differed between active and inactive patients. The disease activity indices showed sensitivity to change between 6- and 12-month follow-up among patients who improved or worsened according to the physician-reported global disease activity and the parents-reported global disease activity. Conclusion: Overall, no disease activity score is superior to the other, and all three scores have limitations in the application in juvenile systemic sclerosis patients. Furthermore, research on the concept of disease activity and suitable scores to measure disease activity in patients with juvenile systemic sclerosis is necessary in future.

Gender differences in juvenile systemic sclerosis patients: Results from the international juvenile scleroderma inception cohort.

Objective: To compare organ involvement and disease severity between male and female patients with juvenile onset systemic sclerosis. Methods: Demographics, organ involvement, laboratory evaluation, patient-reported outcomes and physician assessment variables were compared between male and female juvenile onset systemic sclerosis patients enrolled in the prospective international juvenile systemic sclerosis cohort at their baseline visit and after 12 months. Results: One hundred and seventy-five juvenile onset systemic sclerosis patients were evaluated, 142 females and 33 males. Race, age of onset, disease duration, and disease subtypes (70% diffuse cutaneous) were similar between males and females. Active digital ulceration, very low body mass index, and tendon friction rubs were significantly more frequent in males. Physician global assessment of disease severity and digital ulcer activity was significantly higher in males. Composite pulmonary involvement was also more frequent in males, though not statistically significantly. After 12 months, they are the pattern of differences changed female patients had significantly more frequent pulmonary involvement. Conclusion: In this cohort, juvenile onset systemic sclerosis had a more severe course in males at baseline and but the pattern changed after 12 months. Some differences from adult findings persisted, there is no increased signal of pulmonary arterial hypertension or heart failure in male pediatric patients. While monitoring protocols of organ involvement in juvenile onset systemic sclerosis need to be identical for males and females.

Differences Sustained Between Diffuse and Limited Forms of Juvenile Systemic Sclerosis in an Expanded International Cohort.

OBJECTIVE: To evaluate the baseline clinical characteristics of juvenile systemic sclerosis (SSc) patients in the international juvenile SSc inception cohort, and to compare these characteristics between the classically defined juvenile diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) subtypes and among those with overlap features. METHODS: A cross-sectional study was performed using baseline visit data. Information on demographic characteristics, organ system evaluation, treatment, and patient- and physician-reported outcomes was extracted and summary statistics applied. Comparisons between juvenile dcSSc and lcSSc subtypes and patients with and without overlap features were performed using chi-square and Mann-Whitney U tests. RESULTS: At data extraction, 150 juvenile SSc patients were enrolled across 42 centers; 83% were White, 80% were female, juvenile dcSSc predominated (72%), and 17% of the cohort had overlap features. Significant differences were found between juvenile dcSSc and juvenile lcSSc regarding modified Rodnan skin thickness score, the presence of Gottron's papules, digital tip ulceration, results of the 6-minute walk test, and composite pulmonary and cardiac involvement. All of these were more frequent in dcSSc except for cardiac involvement. Juvenile dcSSc patients had significantly worse scores for physician-rated disease activity and damage. A significantly higher occurrence of Gottron's papules and musculoskeletal and composite pulmonary involvement, and a significantly lower frequency of Raynaud's phenomenon, were seen in those with overlap features. CONCLUSION: Results from a large international juvenile SSc cohort demonstrate significant differences between juvenile dcSSc and juvenile lcSSc patients, including more globally severe disease and increased frequency of interstitial lung disease in juvenile dcSSc patients, while those with lcSSc have more frequent cardiac involvement. Those with overlap features had an unexpected higher frequency of interstitial lung disease.

Underdetection of Interstitial Lung Disease in Juvenile Systemic Sclerosis.

OBJECTIVE: Utilizing data obtained from a prospective, international, juvenile systemic sclerosis (SSc) cohort, the present study was undertaken to determine if pulmonary screening with forced vital capacity (FVC) and diffusing capacity for carbon monoxide (DLco) is sufficient to assess the presence of interstitial lung disease (ILD) in comparison to high-resolution computed tomography (HRCT) in juvenile SSc. METHODS: The juvenile SSc cohort database was queried for patients enrolled from January 2008 to January 2020 with recorded pulmonary function tests (PFTs) parameters and HRCT to determine the discriminatory properties of PFT parameters, FVC, and DLco in detecting ILD. RESULTS: Eighty-six juvenile SSc patients had both computed tomography imaging and FVC values for direct comparison. Using findings on HRCT as the standard measure of ILD presence, the sensitivity of FVC in detecting ILD in juvenile SSc was only 40%, the specificity was 77%, and area under the curve (AUC) was 0.58. Fifty-eight juvenile SSc patients had both CT imaging and DLco values for comparison. The sensitivity of DLco in detecting ILD was 76%, the specificity was 70%, and AUC was 0.73. CONCLUSION: The performance of PFTs in juvenile SSc to detect underlying ILD was quite limited. Specifically, the FVC, which is one of the main clinical parameters in adult SSc to detect and monitor ILD, would miss ~60% of children who had ILD changes on their accompanying HRCT. The DLco was more sensitive in detecting potential abnormalities on HRCT, but with less specificity than the FVC. These results support the use of HRCT in tandem with PFTs for the screening of ILD in juvenile SSc.

[Clinical- epidemiological characteristics and predictors of coronary complications in children of Argentina with Kawasaki disease]. / Características clínico-epidemiológicas y predictores de complicaciones coronarias en niños de Argentina con enfermedad de Kawasaki.

BACKGROUND: Kawasaki disease (EK) is an acute systemic vasculitis with a risk of developing coronary aneurysms. AIM: To describe the clinical and epidemiological characteristics of children with EK in Argentina and to analyse the risk factors for the development of coronary's complications (CC). METHODS: Multicenter, retrospective, cross-sectional, observational and analytical study. It included patients younger than 18 years of age diagnosed with EK in hospitals in Argentina, between January the 1st, 2010 and December the 31th, 2013. RESULTS: N = 193 subjects. Age: medium: 29 months. Total incidence 5 cases / 10,000 hospital discharges. CC was observed in 15.5% of patients. Increased risk factors for CC: Elevated number of days with fever at the time of treatment placement (p = 0.0033); Increased of: heart frequency (p = 0.0021), erythrosedimentation (ESR) (p = 0.005), C-reactive protein (CRP) (p < 0.0001), leukocytes (p = 0.0006), neutrophils (p = 0.0021); Decreased of hematocrit (p = 0.0007) and hemoglobin (p < 0.0001).Association with CC: non-coronary cardiological alterations (OR = 10,818); PCR greater than 68 mg /L (OR = 11,596); leukocytes greater than 20,000 / mm3 (OR = 4.316); and ESR greater than 64 mm / 1 hour (OR = 4.267). CONCLUSION: The most frequent form of presentation was complete EK, the risk of CC was higher in males, younger than 5 years old, the risk factors (clinical and laboratory) were similar to those described in the literature.

Características clínico-epidemiológicas y predictores de complicaciones coronarias en niños de Argentina con enfermedad de Kawasaki / Clinical- epidemiological characteristics and predictors of coronary complications in children of Argentina with Kawasaki disease

Resumen Introducción: La enfermedad de Kawasaki (EK) es una vasculitis sistémica aguda con riesgo de desarrollar aneurismas coronarios. Objetivos: Describir características clínico-epidemiológicas en niños con diagnóstico de EK en Argentina. Analizar factores de riesgo para el desarrollo de complicaciones coronarias (CC). Población y Métodos: Estudio multicéntrico, retrospectivo, transversal, observacional y analítico. Incluyó pacientes bajo 18 años de edad, con diagnóstico de EK en hospitales de Argentina, entre el 1 de enero de 2010 y el 31 de diciembre de 2013. Resultados: N = 193 sujetos. Edad: mediana: 29 meses. Tasa promedio total país 5 casos/10.000 egresos hospitalarios. Presentaron CC 15,5%. Mayor riesgo de CC: Mayor cantidad de días de fiebre al momento de colocación del tratamiento (p = 0,0033); Aumento de: frecuencia cardíaca (p = 0,0021), eritrosedimentación (VSG) (p = 0,005), proteína C reactiva (PCR) (p < 0,0001), leucocitosis (p = 0,0006), neutrofilia (p = 0,0021); Disminución de hematocrito (p = 0,0007) y hemoglobina (p < 0,0001). Asociación con CC: alteraciones cardiológicas no coronarias (ORv10.818); PCR mayor de 68 mg/L (OR = 11.596); leucocitos mayores a 20.000/mm3 (OR= 4.316); y VSG mayor de 64 mm/1° hora (OR = 4.267). Conclusión: La forma de presentación más frecuente fue EK completa, el riesgo de CC fue mayor en varones, menores de 5 años de edad, los factores de riesgo (clínicos y de laboratorio) fueron semejantes a los descritos en la bibliografía.

Background: Kawasaki disease (EK) is an acute systemic vasculitis with a risk of developing coronary aneurysms. Aim: To describe the clinical and epidemiological characteristics of children with EK in Argentina and to analyse the risk factors for the development of coronary's complications (CC). Methods: Multicenter, retrospective, cross-sectional, observational and analytical study. It included patients younger than 18 years of age diagnosed with EK in hospitals in Argentina, between January the 1st, 2010 and December the 31th, 2013. Results: N = 193 subjects. Age: medium: 29 months. Total incidence 5 cases / 10,000 hospital discharges. CC was observed in 15.5% of patients. Increased risk factors for CC: Elevated number of days with fever at the time of treatment placement (p = 0.0033); Increased of: heart frequency (p = 0.0021), erythrosedimentation (ESR) (p = 0.005), C-reactive protein (CRP) (p < 0.0001), leukocytes (p = 0.0006), neutrophils (p = 0.0021); Decreased of hematocrit (p = 0.0007) and hemoglobin (p < 0.0001).Association with CC: non-coronary cardiological alterations (OR = 10,818); PCR greater than 68 mg /L (OR = 11,596); leukocytes greater than 20,000 / mm3 (OR = 4.316); and ESR greater than 64 mm / 1 hour (OR = 4.267). Conclusion: The most frequent form of presentation was complete EK, the risk of CC was higher in males, younger than 5 years old, the risk factors (clinical and laboratory) were similar to those described in the literature.

Are diffuse and limited juvenile systemic sclerosis different in clinical presentation? Clinical characteristics of a juvenile systemic sclerosis cohort.

Introduction: Juvenile systemic sclerosis is an orphan disease. Currently, the majority of juvenile systemic sclerosis cohort studies are retrospective in design without standardized assessment. This study was conducted prospectively to investigate the difference in manifestations of limited cutaneous juvenile systemic sclerosis and diffuse cutaneous juvenile systemic sclerosis subtypes. An additional aim was to compare these data to other juvenile systemic sclerosis cohorts and a large adult systemic sclerosis cohort. Methods: Patients fulfilling the Paediatric Rheumatology European Society juvenile systemic sclerosis classification criteria were included. Clinical characteristics and patient-related outcomes were assessed. Results: In all, 88 patients with a mean disease duration of 3.5 years were enrolled, 72.5% with diffuse cutaneous juvenile systemic sclerosis with a mean modified Rodnan Skin score of 18 and 27.5% with limited cutaneous juvenile systemic sclerosis with mean modified Rodnan Skin score of 9. The mean age at the onset of Raynaud's and first non-Raynaud's symptoms was similar in both groups, approximately 9 and 10.5 years. Active digital tip ulcerations were present in 29% diffuse cutaneous juvenile systemic sclerosis and none in the limited cutaneous juvenile systemic sclerosis subjects (p = 0.005). Of those with cardiopulmonary testing, 3% of diffuse cutaneous juvenile systemic sclerosis and 23% of limited cutaneous juvenile systemic sclerosis group had cardiac involvement (p = 0.015), and 41% diffuse cutaneous juvenile systemic sclerosis and 22% of the limited cutaneous juvenile systemic sclerosis group had pulmonary involvement (p = 0.009). Physician global disease damage assessment was higher in the diffuse cutaneous juvenile systemic sclerosis group compared to the limited cutaneous juvenile systemic sclerosis group: 35 and 15 (p = 0.021). Discussion: The majority of this international juvenile systemic sclerosis cohort had diffuse cutaneous juvenile systemic sclerosis (72.5%) with more frequent vascular and pulmonary involvement compared to the limited cutaneous group, who had increased cardiac involvement. Our cohort reflects prior findings of published juvenile systemic sclerosis cohorts and emphasizes a difference in the presentation compared to adult-onset systemic sclerosis.

Síndrome de superposición: lupus eritematoso sistémico y hepatitis autoinmune en una adolescente / An Overlap Syndrome involving systemic lupus erythematosus and autoimmune hepatitis in an adolescent girl

La superposición del lupus eritematoso sistémico y la hepatitis autoinmune se describe ocasionalmente. Aunque ambas enfermedades pueden compartir ciertos hallazgos, como poliartralgias, hipergammaglobulinemia y anticuerpo antinúcleo positivo, son consideradas dos diferentes. Se presenta a una paciente de 14 años con lupus eritematoso sistémico, que, luego de dos años, consultó por ictericia. Sin antecedentes de ingesta de drogas, alcohol o exposición a virus hepatotropos. Tenia un aumento de las enzimas hepáticas con anticuerpos antinúcleo, anti-ADN de doble cadena y LKM 1 positivos. La biopsia hepática mostró una hepatitis de interfase con infiltrado linfoplasmocitario. De esta manera, cumplia con los criterios diagnósticos tanto para lupus eritematoso sistémico como para hepatitis autoinmune. Tratada con corticoides y micofenolato mofetil, mejoró su clinica y laboratorio. Conclusión. La hepatitis autoinmune puede ocurrir en el curso del lupus eritematoso sistémico. Un diagnóstico temprano es importante para prevenir el avance de la enfermedad; es obligatoria la realización de la biopsia hepática.

Overlap of systemic lupus erythematosus and autoimmune hepatitis is a rare condition, occasionally described. Both autoimmune diseases can share common autoimmune features such as polyartralgia, hypergammaglobulinemia and positive antinuclear antibody, but they have been considered as two different entities. We report a 14 year old female patient with systemic lupus erythematosus who developed autoimmune hepatitis two years later. She had jaundice with no history of viral infections, drug intake, alcohol abuses or exposition to blood products. She was positive for antinuclear antibody, double stranded DNA antibody and LKM 1 antibody. Histological examination of the liver showed interface hepatitis with lymphoplasmacytic cell infiltration. The patient satisfied the international criteria for both systemic lupus erythematosus and Type 2 autoimmune hepatitis. Clinical symptoms and laboratory findings improved under treatment with steroids and mycophenolate mofetil. Conclusion. Autoimmune hepatitis may occur during the course of systemic lupus erythematosus and an early diagnosis is important for preventing advanced liver disease. Definitive diagnosis of autoimmune hepatitis requires confirmation by means of a liver biopsy.

An Overlap Syndrome involving systemic lupus erythematosus and autoimmune hepatitis in an adolescent girl. / Síndrome de superposición: lupus eritematoso sistémico y hepatitis autoinmune en una adolescente.

UNLABELLED: Overlap of systemic lupus erythematosus and autoimmune hepatitis is a rare condition, occasionally described. Both autoimmune diseases can share common autoimmune features such as polyartralgia, hypergammaglobulinemia and positive antinuclear antibody, but they have been considered as two different entities. We report a 14 year old female patient with systemic lupus erythematosus who developed autoimmune hepatitis two years later. She had jaundice with no history of viral infections, drug intake, alcohol abuses or exposition to blood products. She was positive for antinuclear antibody, double stranded DNA antibody and LKM 1 antibody. Histological examination of the liver showed interface hepatitis with lymphoplasmacytic cell infiltration. The patient satisfied the international criteria for both systemic lupus erythematosus and Type 2 autoimmune hepatitis. Clinical symptoms and laboratory findings improved under treatment with steroids and mycophenolate mofetil. CONCLUSION: Autoimmune hepatitis may occur during the course of systemic lupus erythematosus and an early diagnosis is important for preventing advanced liver disease. Definitive diagnosis of autoimmune hepatitis requires confirmation by means of a liver biopsy.

La superposición del lupus eritematoso sistémico y la hepatitis autoinmune se describe ocasionalmente. Aunque ambas enfermedades pueden compartir ciertos hallazgos, como poliartralgias, hipergammaglobulinemia y anticuerpo antinúcleo positivo, son consideradas dos diferentes. Se presenta a una paciente de 14 años con lupus eritematoso sistémico, que, luego de dos años, consultó por ictericia. Sin antecedentes de ingesta de drogas, alcohol o exposición a virus hepatotropos. Tenia un aumento de las enzimas hepáticas con anticuerpos antinúcleo, anti-ADN de doble cadena y LKM 1 positivos. La biopsia hepática mostró una hepatitis de interfase con infiltrado linfoplasmocitario. De esta manera, cumplia con los criterios diagnósticos tanto para lupus eritematoso sistémico como para hepatitis autoinmune. Tratada con corticoides y micofenolato mofetil, mejoró su clinica y laboratorio. Conclusión. La hepatitis autoinmune puede ocurrir en el curso del lupus eritematoso sistémico. Un diagnóstico temprano es importante para prevenir el avance de la enfermedad; es obligatoria la realización de la biopsia hepática.

Afección coronaria en niños con enfermedad de Kawasaki / Coronary involvement in patients with Kawasaki disease

Objetivo: la enfermedad de Kawasaki (EK) es una vasculitis frecuente en la infancia que puede producir aneurismas coronarios. Con el objetivo de describir las lesiones coronarias tanto en fase aguda como al año del diagnóstico, realizamos este estudio retrospectivo de 30 niños de 0 a 7 años con EK atendidos en nuestro centro, desde enero de 1990 a febrero de 2010. Resultados: Presentaron afección coronaria 7 pacientes. Cuatro de ellos varones. El 71,4% (n: 5) tenían EK completo. La edad media de inicio de los síntomas fue de 1,55 años (rango: 0,083-3). La mayoría de las lesiones fueron menores tales como la ectasia difusa o el aneurisma pequeño de ambas coronarias (n: 5). Estables al año de seguimiento. Dos varones de 19 días y 7 meses de edad presentaron lesiones mayores que correspondieron a los aneurismas múltiples y un aneurisma gigante persistente. La duración de la fiebre (p=0,04) y el retraso de aplicación de la gammaglobulina (p=0,025) pudo asociarse con afección coronaria. Conclusión: Alto índice de coronariopatías. La mayoría de las lesiones fueron menores tales como las ectasias difusas o los aneurismas pequeños estables al año de evolución. Las lesiones mayores correspondieron a los aneurismas múltiples y un aneurisma gigante persistente. La duración de la fiebre y el retraso en el tratamiento se asoció con mayor compromiso coronario. Recomendamos al médico mantener un alto índice de sospecha de esta enfermedad particularmente en los niños menores de un año de vida.

Objective: Kawasaki’s disease (KD) is a systemic vasculitis of childhood with a predilection for the coronary arteries. The aim of this study was to describe the coronary lesions of patients with KD bothin the acute phase and after one year. A retrospective study was performedon 30 children with KD from 0 to 7 years of age treated in ourhospital between January 1990 and February 2010. Results: Coronary artery disease was recorded in 7 patients. Medianage at diagnosis was 1.55 years (range: 0.083-3). There were fourboys, 71.4% (n: 5), with typical disease. Most injuries were minor, diffuse ectasia or small aneurysm of both coronary arteries persistedduring follow-up at one year. Two males of 19 days and 7 months ofage developed multiple aneurysms and giant aneurysm respectively. Duration of fever (p=0.04) and delay of diagnosis and treatment with intravenous gamma globulin (p=0.025) were associated with coronary disease. Conclusion: We found a high percentage of coronary artery abnormalities. Mainly ectasia and small aneurysms persistent at one Year of follow. Major lesions were multiple aneurysms and giantaneurysm that were associated with delayed diagnosis and treatment. We recommend clinicians to mantain high levels of suspicion, particularly in infants under one year of age.

[Validation of a method to predict the etiology of pneumonia in children]. / Validación de un método para predecir etiología en niños con neumonía.

INTRODUCTION: Identifying etiology in children with pneumonia requires time and technical resources, not always available. Therefore, the initial management of pneumonia is often based on clinical, laboratory, and/or radiographic data. Clinical prediction rules based on a combination of factors could increase diagnostic accuracy. OBJECTIVE: To validate the diagnostic accuracy of a clinical prediction rule (Bacterial Pneumonia Score, BPS) to distinguish bacterial from viral pneumonia in children. Population and methods. This observational, diag- nostic test evaluation study was performed among January 2004 and December 2006. Children aged 1 month to 15 years old, hospitalized for pneumonia in whom a bacterial or viral etiology was identified were included. Children with chronic pulmonary disease, congenital heart disease, admission to the intensive care unit, underlying immunologic disease, mixed viral and bacterial infection, or inability to identify viral or bacterial pathogens were excluded. Admission data were recorded (age, temperature, WBC count and chest radiograph evaluation). BPS was then calculated (range -3 to 15 points), taking into account that a BPS > or =4 suggests bacterial pneumonia. RESULTS: We included 82 patients aged 1 to 96 months with pneumonia (79% viral and 21% bacterial). A BPS > or = 4 predicted bacterial pneumonia with sensibility: 94%, specificity: 34%, positive predictive value: 27%, and negative predictive value: 95%. CONCLUSION: The BPS was accurate on identifying most children with bacterial pneumonia, who required antibiotic therapy.

Validación de un método para predecir etiología en niños con neumonía / Validation of a method to predict the etiology of pneumonia in children

Introducción. Determinar el agente etiológico en niños con neumonía no es simple; requiere técnicasy tiempo que muchas veces no están disponibles. Por lo tanto, la decisión terapéutica inicial suele basarse en elementos clínicos, radiológicos y de laboratorio. El empleo de reglas de predicción clínica que combinan varios de estos elementos puedei ncrementar la capacidad diagnóstica. Objetivo. Evaluar la capacidad diagnóstica de una escala de puntaje para predecir etiología en niños con neumonía (Bacterial Pneumonia Score, BPS).Población, material y método. Estudio observacional ,retrospectivo, de evaluación de una prueba diagnóstica, llevado a cabo entre enero de 2004 ydiciembre de 2006. Se incluyeron pacientes de 1 mesa 15 años de edad hospitalizados por neumonía, condiagnóstico etiológico confirmado (viral o bacteriano).Se excluyeron aquellos con enfermedad pulmonar crónica, cardiopatía congénita, inmunodeficiencia,requerimiento de cuidados intensivos, infeccionesmixtas o falta de diagnóstico etiológico. Se registraron datos del ingreso (edad, temperatura,hemograma y evaluación de radiografía de tórax).Con los datos mencionados se calculó el BPS (intervalo de -3 a 15 puntos), donde un v alor ≥ 4sugiere etiología bacteriana.Resultados. Se incluyeron 82 pacientes con edades entre 1 y 96 meses (79 por ciento etiología viral y 21 por ciento bacteriana). Un valor de BPS ≥ 4 mostró sensibilidad: 94 por ciento, especificidad: 34 por ciento, valor predictivo positivo: 27 por ciento y valor predictivo negativo: 95 por ciento.Conclusión. El BPS presentó una buena capacidad para identificar a la gran mayoría de los niños con infección bacteriana, que requieren antibióticos.

Introduction. Identifying etiology in children with pneumonia requires time and technical resources, not always available. Therefore, the initial management of pneumonia is often based on clinical, laboratory, and/or radiographic data. Clinical prediction rules based on a combination of factors could increase diagnostic accuracy. Objective. To validate the diagnostic accuracy of a clinical prediction rule (Bacterial Pneumonia Score, BPS) to distinguish bacterial from viral pneumonia in children. Population and methods. This observational, diagnostic test evaluation study was performed among January 2004 and December 2006. Children aged 1 month to 15 years old, hospitalized for pneumonia in whom a bacterial or viral etiology was identified were included. Children with chronic pulmonary disease, congenital heart disease, admission to the intensive care unit, underlying immunologic disease, mixed viral and bacterial infection, or inability to identify viral or bacterial pathogens were excluded. Admission data were recorded (age, temperature, WBC count and chest radiograph evaluation). BPS was then calculated (range -3 to 15 points), taking into account that a BPS ≥4 suggests bacterial pneumonia. Results. We included 82 patients aged 1 to 96 months with pneumonia (79% viral and 21% bacterial). A BPS ≥ 4 predicted bacterial pneumonia with sensibility:94%, specificity: 34%, positive predictive value: 27%, and negative predictive value: 95%. Conclusion. The BPS was accurate on identifying most children with bacterial pneumonia, who required antibiotic therapy.

Validación de un método para predecir etiología en niños con neumonía / Validation of a method to predict the etiology of pneumonia in children

Introducción. Determinar el agente etiológico en niños con neumonía no es simple; requiere técnicasy tiempo que muchas veces no están disponibles. Por lo tanto, la decisión terapéutica inicial suele basarse en elementos clínicos, radiológicos y de laboratorio. El empleo de reglas de predicción clínica que combinan varios de estos elementos puedei ncrementar la capacidad diagnóstica. Objetivo. Evaluar la capacidad diagnóstica de una escala de puntaje para predecir etiología en niños con neumonía (Bacterial Pneumonia Score, BPS).Población, material y método. Estudio observacional ,retrospectivo, de evaluación de una prueba diagnóstica, llevado a cabo entre enero de 2004 ydiciembre de 2006. Se incluyeron pacientes de 1 mesa 15 años de edad hospitalizados por neumonía, condiagnóstico etiológico confirmado (viral o bacteriano).Se excluyeron aquellos con enfermedad pulmonar crónica, cardiopatía congénita, inmunodeficiencia,requerimiento de cuidados intensivos, infeccionesmixtas o falta de diagnóstico etiológico. Se registraron datos del ingreso (edad, temperatura,hemograma y evaluación de radiografía de tórax).Con los datos mencionados se calculó el BPS (intervalo de -3 a 15 puntos), donde un v alor ≥ 4sugiere etiología bacteriana.Resultados. Se incluyeron 82 pacientes con edades entre 1 y 96 meses (79 por ciento etiología viral y 21 por ciento bacteriana). Un valor de BPS ≥ 4 mostró sensibilidad: 94 por ciento, especificidad: 34 por ciento, valor predictivo positivo: 27 por ciento y valor predictivo negativo: 95 por ciento.Conclusión. El BPS presentó una buena capacidad para identificar a la gran mayoría de los niños con infección bacteriana, que requieren antibióticos.(AU)

Introduction. Identifying etiology in children with pneumonia requires time and technical resources, not always available. Therefore, the initial management of pneumonia is often based on clinical, laboratory, and/or radiographic data. Clinical prediction rules based on a combination of factors could increase diagnostic accuracy. Objective. To validate the diagnostic accuracy of a clinical prediction rule (Bacterial Pneumonia Score, BPS) to distinguish bacterial from viral pneumonia in children. Population and methods. This observational, diagnostic test evaluation study was performed among January 2004 and December 2006. Children aged 1 month to 15 years old, hospitalized for pneumonia in whom a bacterial or viral etiology was identified were included. Children with chronic pulmonary disease, congenital heart disease, admission to the intensive care unit, underlying immunologic disease, mixed viral and bacterial infection, or inability to identify viral or bacterial pathogens were excluded. Admission data were recorded (age, temperature, WBC count and chest radiograph evaluation). BPS was then calculated (range -3 to 15 points), taking into account that a BPS ≥4 suggests bacterial pneumonia. Results. We included 82 patients aged 1 to 96 months with pneumonia (79% viral and 21% bacterial). A BPS ≥ 4 predicted bacterial pneumonia with sensibility:94%, specificity: 34%, positive predictive value: 27%, and negative predictive value: 95%. Conclusion. The BPS was accurate on identifying most children with bacterial pneumonia, who required antibiotic therapy.(AU)

Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the presence of autoantibodies against intracellular components, the formation of immune complexes, and inflammation in various organs, typically the skin and kidney glomeruli. The etiology of the disease is not well understood but is most likely the result of the interaction between genetic and environmental factors. In order to identify susceptibility loci for SLE, we have performed genome scans with microsatellite markers covering the whole genome in families from Argentina, Italy, and Europe. The results reveal a heterogeneous disease with different susceptibility loci in different family sets. We have found significant linkage to chromosome 17p12-q11 in the Argentine set of families. The maximum LOD score was given by marker D17S1294 in combination with D17S1293, when assuming a dominant inheritance model (Z = 3.88). We also analyzed a repeat in the promoter region of the NOS2A gene, a strong candidate gene in the region, but no association was found. The locus on chromosome 17 has previously been identified in genetic studies of multiple sclerosis families. Several other interesting regions were found at 1p35, 1q31, 3q26, 5p15, 11q23 and 19q13, confirming previously identified loci for SLE or other autoimmune diseases.

Manifestaciones neurológicas del virus de la parotiditis en niños sin paperas / Neurological manifestations of the parotitis virus in children without mumps

Introducción.En el Hospital de Niños de Santa Fé, en más del 50 por ciento de la meningitis no se encuentran bacterias.Durante la primavera de 1995,se detectó un aumento de casos de meningitis asépticas(MA) que se decidió estudiar.Objetivo.Identificar virus en pacientes con meningitis sin gérmenes,internados entre el 15/11/95 y el 31/1/96.Resultados.Los pacientes tuvieron entre 3 y 11 años.No habían recibido vacuna antiparotiditis.Ninguno presentó agrandamiento de las glándulas salivales.Siete pacientes tuvieron títulos altos de IGM específica fue positiva.Por RCP se demostró en el LCR de los de los 10 niños la presencia del genoma del virus de la parotiditis(VP).En 5 con MA,los síntomas cedieron dentro de los 3 días.Tres presentaron compromiso del sensorio con síntomas meningeos durante más de una semana.Los pacientes con ataxia y SGB se recuperaron a los diez días.Conclusión.Se comprobó que el VP fue la causa de meningitis y de otras manifestaciones neurológicas(ataxia cerebelosa y SGB)en niños sin paperas

Manifestaciones neurológicas del virus de la parotiditis en niños sin paperas / Neurological manifestations of the parotitis virus in children without mumps

Introducción.En el Hospital de Niños de Santa Fé, en más del 50 por ciento de la meningitis no se encuentran bacterias.Durante la primavera de 1995,se detectó un aumento de casos de meningitis asépticas(MA) que se decidió estudiar.Objetivo.Identificar virus en pacientes con meningitis sin gérmenes,internados entre el 15/11/95 y el 31/1/96.Resultados.Los pacientes tuvieron entre 3 y 11 años.No habían recibido vacuna antiparotiditis.Ninguno presentó agrandamiento de las glándulas salivales.Siete pacientes tuvieron títulos altos de IGM específica fue positiva.Por RCP se demostró en el LCR de los de los 10 niños la presencia del genoma del virus de la parotiditis(VP).En 5 con MA,los síntomas cedieron dentro de los 3 días.Tres presentaron compromiso del sensorio con síntomas meningeos durante más de una semana.Los pacientes con ataxia y SGB se recuperaron a los diez días.Conclusión.Se comprobó que el VP fue la causa de meningitis y de otras manifestaciones neurológicas(ataxia cerebelosa y SGB)en niños sin paperas