ABSTRACT
Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of symptom onset was 22.23 +/- 7.34 yr. The serum creatine kinase (CK) was highly increased (4- to 101-fold above normal). The pathological findings of muscle specimens showed nonspecific dystrophic features and frequent inflammatory cell infiltration. Muscle imaging studies showed fatty atrophic changes dominantly in the posterolateral muscles of the lower limb. The patients with dysferlinopathy were classified by initial muscle weakness: fifteen patients with Miyoshi myopathy phenotype (MM), thirteen patients with limb girdle muscular dystrophy 2B phenotype (LGMD2B), two patients with proximodistal phenotype, and one asymptomatic patient. There were no differences between LGMD2B and MM groups in terms of onset age, serum CK levels and pathological findings. Dysferlinopathy patients usually have young adult onset and high serum CK levels. However, heterogeneity of clinical presentations and pathologic findings upon routine staining makes it difficult to diagnose dysferlinopathy. These limitations make immunohistochemistry currently the most important method for the diagnosis of dysferlinopathy.
Subject(s)
Adolescent , Adult , Female , Humans , Male , Middle Aged , Young Adult , Age of Onset , Creatine Kinase/blood , Distal Myopathies/pathology , Immunohistochemistry , Membrane Proteins/genetics , Muscle Proteins/genetics , Muscular Atrophy/pathology , Muscular Dystrophies, Limb-Girdle/diagnosis , Mutation , Phenotype , Republic of Korea , Tomography, X-Ray ComputedABSTRACT
Las fracturas del tercio distal del radio ocupan un gran porcentaje de discapacidad a diario en nuestro país ya que representa más del 12% de los motivos de consulta en la emergencia de la mayoría de los hospitales. Muchos métodos de tratamiento son aceptados con buena evolución clínica pero con gran porcentaje de complicaciones. De ahí la inquietud en buscar el mejor método de tratamiento que ayude al paciente a su incorporación a la vida diaria. Se presenta la experiencia en el tratamiento de 25 pacientes que presentaron fracturas del tercio distal del radio desde enero de 2007 a noviembre de 2008; entre las edades comprendidas de 39 a 74 años distribuyéndose 17 mujeres y 8 hombres. Evaluando el tipo, mecanismo de producción de las fracturas y utilizando la clasificación de Fernández tratadas con placas de sostén y tornillos de cortical 3,5 técnica AO con un abordaje volar.