RESUMEN
La osteítis deformante o enfermedad de Paget es un trastorno óseo, crónico, poco frecuente en Chile, que puede afectar típicamente a pacientes después de los 55 años. Su etiología es probablemente multifactorial: actualmente se considera como posiblemente implicados factores ambientales y genéticos.La mayor parte de los pacientes son asintomáticos. Los diagnósticos habitualmente se realizan en base a hallazgos radiológicos. Cuando existen síntomas, suelen ser dolor y/o deformidad ósea. Pueden comprometerse uno o varios huesos.Ante su sospecha clínica, la exploración diagnóstica requiere de al menos el estudio con radiografías simples de las lesiones sospechosas, cintigrama óseo y parámetros de actividad metabólica ósea; recomendándose los niveles séricos de fosfatasas alca-linas, por su bajo costo y elevada disponibilidad.Las metástasis óseas condensantes son un importante diagnóstico diferencial a con-siderar.Sobre el tratamiento, se recomienda el uso de fármacos antirresortivos como terapia específica, y el uso de ortesis y terapia física.El seguimiento es clínico y con biomarcadores de recambio óseo.
Osteitis-deformans or Paget's disease is a chronic bone disorder uncommon in Chile, with a typical presentation after age 55. Its etiology is probably multifactorial: It is actualy considered that environmental and genetic factors are mainly involved.Most patients are asymptomatic. Diagnoses are usualy performed based on radio-logical findings. When symptoms exist, they are pain and/or bone deformity. One or several bones can be affects.If it Ìs suspect, the diagnostic exploration requires at least the study with x-rays of the suspicious lesions, bone scintigraphy and parameters of bone metabolic activity, being recommended the serum levels of alkaline phosphatases, for its low cost and high availability.Condensing bone metatases have to be considered like an important differential di-agnosis.For the treatment, the use of antiresorptive drugs as specific therapy is recommend-ed, and the use of orthotics and physical therapy.Follow-up is made with clinical findings and with biomarkers of bone turnover.
Asunto(s)
Humanos , Masculino , Anciano de 80 o más Años , Osteítis Deformante/epidemiología , Osteítis Deformante/diagnóstico por imagen , Huesos/fisiología , Osteítis Deformante/tratamiento farmacológico , Biomarcadores , Diagnóstico Diferencial , Dolor MusculoesqueléticoRESUMEN
MicroRNAs control the differentiation and function of B cells, which are considered key elements in the pathogenesis of systemic lupus erythematosus (SLE). However, a common micro(mi)RNA signature has not emerged since published data includes patients of variable ethnic background, type of disease, and organ involvement, as well as heterogeneous cell populations. Here, we aimed at identifying a miRNA signature of purified B cells from renal and non-renal severe SLE patients of Latin American background, a population known to express severe disease. Genome-wide miRNA expression analyses were performed on naive and memory B cells and revealed two categories of miRNA signatures. The first signature represents B cell subset-specific miRNAs deregulated in SLE: 11 and six miRNAs discriminating naive and memory B cells of SLE patients from healthy controls (HC), respectively. Whether the miRNA was up or down-regulated in memory B cells as compared with naive B cells in HC, this difference was abolished in SLE patients, and vice versa. The second signature identifies six miRNAs associated with specific pathologic features affecting renal outcome, providing a further understanding for SLE pathogenesis. Overall, the present work provided promising biomarkers in molecular diagnostics for disease severity as well as potential new targets for therapeutic intervention in SLE.
Asunto(s)
Subgrupos de Linfocitos B/metabolismo , Biomarcadores/metabolismo , Perfilación de la Expresión Génica , Lupus Eritematoso Sistémico/genética , Lupus Eritematoso Sistémico/inmunología , MicroARNs/genética , Adulto , Estudios de Casos y Controles , Chile , Análisis por Conglomerados , Francia , Humanos , Lupus Eritematoso Sistémico/diagnóstico , Nefritis Lúpica/diagnóstico , Nefritis Lúpica/genética , MicroARNs/metabolismoRESUMEN
Constrictive pericarditis as an extra articular manifestation of rheumatoid arthritis is very unusual, but its valuable to consider as a working diagnosis in patients with symptoms of heart failure that suffer rheumatoid arthritis. In our case report, the first manifestation was severe ascites and anasarca, that after numerous studies led to the diagnosis of constrictive pericarditis.
La pericarditis constrictiva como manifestación extraarticular de la artritis reumatoide constituye una rareza; es valioso, sí, plantearla como hipótesis diagnóstica en pacientes con clínica de insuficiencia cardiaca y que padezcan artritis reumatoide. En nuestro caso clínico la primera manifestación es una anasarca con ascitis severa, y luego de numerosos estudios se pesquisa la pericarditis constrictiva.
