RESUMEN
Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessively inherited skeletal dysplasia. We present four patients (three patients-a brother and a sister and their third cousin-in a family and one patient in another family) with SEDT-PA. All patients had short stature and stubby hands and feet. Their radiographs revealed typical changes for SEDT-PA including platyspondyly, severe osteopenia and dysplastic bone changes. Physical therapy and exercises were performed to all patients in order to decrease in pain and increase or at least maintain joint motion and mobility. Symptomatic relief was achieved in all patients for about a couple of months. The major clinical importance of this rather rare disorder is its similarity to juvenile idiopathic arthritis which has rather different treatment protocol.
Asunto(s)
Artritis Juvenil/diagnóstico , Artropatía Neurógena/genética , Familia , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Adulto , Niño , Diagnóstico Diferencial , Femenino , Genes Recesivos , Mano/diagnóstico por imagen , Mano/fisiopatología , Humanos , Masculino , Osteocondrodisplasias/diagnóstico por imagen , Dimensión del Dolor , Radiografía , Rango del Movimiento Articular , Hermanos , Adulto JovenRESUMEN
Ochronosis is a rare autosomal-recessive disease, characterized by increased homogentisic acid (HGA) and substrates due to deficiency of HGA oxidase. The most common clinical presentations are homogentisic aciduria, blue-black pigment accumulation in collagen tissues, large joint arthropathies and degenerative disk diseases. However, the disease may exert very large spectrum with various system involvements. In this article, a patient who was admitted by progressed musculoskeletal system pains and diagnosed as ochronosis, especially with emerging cardiovascular involvement, was presented.
Asunto(s)
Bloqueo Atrioventricular/complicaciones , Calcinosis/etiología , Hipertrofia Ventricular Izquierda/complicaciones , Ocronosis/complicaciones , Calcinosis/patología , Femenino , Humanos , Disco Intervertebral/patología , Persona de Mediana Edad , Enfermedades de la Columna Vertebral/etiología , Enfermedades de la Columna Vertebral/patologíaRESUMEN
In this study, we evaluated fatigue by using the multidimensional assessment of fatigue (MAF) index in 68 ankylosing spondylitis (AS) patients. To determine the disease activity, functional status and quality of life, bath ankylosing spondylitis disease activity index (BASDAI), bath ankylosing spondylitis functional index (BASFI) and Short Form 36 (SF36) were used respectively. Mander enthesis index (MEI) was used for evaluation of enthesitis. The mean age of the patients was 37.7 (11.1) years. The prevalence of fatigue was 76.5%. There were significant correlations between MAF and BASDAI (P < 0.001), BASFI (P < 0.001), MEI (P = 0.048), pain (P = 0.001), hemoglobin (P = 0.001), ESR (P = 0.035), dorsal Schober's (P = 0.009), occiput-wall distance (P = 0.048). Also MAF was correlated with all dimensions of SF36 except for social function and emotional role. BASFI was found to be the most significant correlated (P = 0.002) parameter with MAF. This study suggests that fatigue is an important symptom in AS and it seemed to occur in severe AS patients. It should appropriately be measured with respect to its intensity with appropriate measures, such as MAF. Moreover, fatigue may increase functional disability, which is already present as a feature of the disease.
