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Conventional mammography has been used for decades for breast cancer screening. Its limitations are well known and are partly related to the fact that with conventional imaging, the three-dimensional volume of the breast is imaged and presented in a two-dimensional format, which leads to low sensitivity in detecting some cancers and high false-positive recall rates. Digital breast tomosynthesis consists in the acquisition of several low dose images from slightly different angles which are then sent to a computer that uses the data to generate 3-D images, providing breast images which are virtually free from superimposition. This is in particular important in cases of high mammographic density to differentiate real masses and architectural distortions from the overlying parenchyma. Digital breast tomosynthesis has shown decreased false-positive callback rates and increased rates of cancer detection, resulting in increased sensitivity and specificity, without a significant increase in the radiation dose.

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Introducción: El síndrome Hiper IgE (SHIGE) autosómico dominante (SHIGE-AD) es una inmunodeficiencia primaria asociada a alteraciones del tejido conectivo, esqueléticas, cerebrales y vasculares. La patogénesis de la inmunodeficiencia reside en una alteración en la vía Th17 lo que explica la susceptibilidad especial de estos pacientes a infecciones por S. aureus y Candida. Objetivo: Describir tres niños diagnosticados como síndrome Hiper IgE y realizar una revisión sobre el tema, con especial foco en la forma dominante de la enfermedad. Casos clínicos: Se presentan 3 niños con SHIGE (2 varones), con rash eccematoso desde el período de recién nacido, infecciones cutáneas, óticas, pulmonares, ganglionares, con niveles de IgE sérica sobre 2.000 UI/ml y eosinofilia, tratados con antimicrobianos y tópicos, con seguimiento más de 7 años. Conclusiones: Es una entidad infrecuente, que requiere alto grado de sospecha y el manejo precoz de las infecciones. Uno de sus principales diagnósticos diferenciales está dado por el niño atópico con infecciones recurrentes pero difieren en el contexto, respuesta y resolución frente a las infecciones y la falta de las otras características fenotípicas.

Introduction: Autosomal dominant Hyper IgE syndrome (HIES-AD) is a primary immunodeficiency associated with connective tissue, skeletal, vascular and brain disorders. The pathogenesis of immune deficiency lies in an alteration of Th17 cells which explains the special susceptibility of these patients to S. aureus and Candida infections. Objective: To describe three children diagnosed with hyper IgE syndrome and conduct a study on the subject, with special focus on the dominant form of the disease. Case reports: 3 children with HIES-AD (2 males and one female) with eczema since birth, skin, ear, lung, and lymph node infections, and serum IgE levels over 2,000 IU/ml and eosinophilia values, treated with antibiotics and topically, and 7 year follow-up. Conclusions: It is a rare condition that requires a high index of suspicion and early management of infections. One of its main diagnoses is atopic syndrome with recurrent infections but both conditions differ in context, response and resolution against infections and lack of other phenotypic characteristics.

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INTRODUCTION: Autosomal dominant Hyper IgE syndrome (HIES-AD) is a primary immunodeficiency associated with connective tissue, skeletal, vascular and brain disorders. The pathogenesis of immune deficiency lies in an alteration of Th17 cells which explains the special susceptibility of these patients to S. aureus and Candida infections. OBJECTIVE: To describe three children diagnosed with hyper IgE syndrome and conduct a study on the subject, with special focus on the dominant form of the disease. CASE REPORTS: 3 children with HIES-AD (2 males and one female) with eczema since birth, skin, ear, lung, and lymph node infections, and serum IgE levels over 2,000 IU/ml and eosinophilia values, treated with antibiotics and topically, and 7 year follow-up. CONCLUSIONS: It is a rare condition that requires a high index of suspicion and early management of infections. One of its main diagnoses is atopic syndrome with recurrent infections but both conditions differ in context, response and resolution against infections and lack of other phenotypic characteristics.

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Introducción: La artritis idiopática juvenil (AIJ) es la enfermedad reumatológica más prevalente en la infancia y en Chile es incorporada al GES en 2010, permitiendo el acceso a terapia biológica. Materiales y métodos: Estudio retrospectivo de pacientes con AIJ refractarios a terapia habitual que iniciaron terapia biológica en el HSJD desde 2008. Se revisaron las fichas clínicas de todos los pacientes, se evaluó la mejoría clínica alcanzada mediante el índice ACR30/50 (American College of Rheumatology) y efectos adversos previo y posterior al uso de biológicos. Resultados: Han recibido terapia biológica 14 pacientes desde 2008, 76 por ciento mujeres. La edad promedio de inicio de la enfermedad fue de 7,8 años, con una duración promedio de la enfermedad de 5,9 meses al diagnóstico. Todos recibieron etanercept. El 71 por ciento recibió etanercept antes de los cinco años del diagnóstico y el 86 por ciento tenía más de 10 años. El 50 por ciento presentaba AIJ de tipo poliarticular, 36 por ciento asociada a entesitis, 5 por ciento sistémica y 5 por ciento indiferenciada. Primero recibieron tratamiento con metotrexato, sulfasalazina, corticoides y/o AINE. Se consignaron 37 reacciones adversas a fármacos (54 por ciento infecciones virales, 41 por ciento bacterianas, 5 por ciento hepatotoxicidad). Durante el uso de terapia biológica ocurrieron 27 reacciones adversas (56 por ciento infecciones bacterianas, 44 por ciento virales). La incidencia de reacciones adversas con uso exclusivo de DMARD fue de 0,0698 mensual y en tratamiento combinado de biológicos con DMARD (en menor dosis) fue de 0,0683 (sin diferencias significativas). Un 69 por ciento y 82 por ciento de los pacientes lograron un índice de ACR30 a los seis y 12 meses de terapia, respectivamente, y ACR50, 62 por ciento y 73 por ciento, respectivamente. Conclusión: La terapia biológica fue efectiva y segura en la mayoría de los pacientes, comparable a lo reportado a nivel internacional.

Introduction: Juvenile idiopathic arthritis (JIA) is the most prevalent rheumatic disease in childhood and in Chile is included in the GES program since 2010, allowing access to biological therapy. Materials and methods: Is a retrospective study of patients with JIA refractory to standard therapy, who initiated biologic therapy in HSJD since 2008. We reviewed the medical data of all patients, clinical improvement was evaluated using the ACR30/50 (American College of Rheumatology) index and adverse effects before and after the use of biologics. Results: 14 patients received biological therapy since 2008, 76 percent female. The average age of disease onset was 7.8 years with a mean disease duration of 5.9 years at diagnosis. All received etanercept. 71 percent received it before 5 years of diagnosis and 86 percent had more than 10 years of diagnosis. 50 percent ad polyarticular JIA, 36 percent associated with enthesitis, 5 percent systemic JIA and 5 percent undifferentiated JIA. First they all received treatment with methotrexate, sulfasalazine, corticosteroids and/or NSAIDs. 37 had adverse drug reactions (95 percent viral or bacterial infections and 5 percent hepatotoxicity). During biologically therapy adverse reactions occurred 27 times (56 percent bacterial, 44 percent viral). The incidence of monthly adverse reactions only with DMARDs was 0.0698 and in the combined therapy (biological plus DMARDs at lower doses) was 0.0683 (no significant difference). 69 percent and 82 percent of patients achieved the ACR30 at 6 and 12 months of therapy respectively and 62 percent and 73 percent achieved ACR50 respectively. Conclusion: Biologic therapy was safe and effective in most patients, comparable to the worldwide reports.

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