RESUMEN
ANKRD26 is a highly conserved gene located on chromosome 10p12.1 which has shown to play a role in normal megakaryocyte differentiation. ANKRD26-related thrombocytopenia, or thrombocytopenia 2, is an inherited thrombocytopenia with mild bleeding diathesis resulting from point mutations the 5'UTR of the ANKRD26 gene. Point mutations in the 5'UTR region have been shown to prevent transcription factor-mediated downregulation of ANKRD26 in normal megakaryocyte differentiation. Patients with ANKRD26-related thrombocytopenia have a predisposition to developing hematological malignancies, with acute myeloid leukemia and myelodysplastic syndrome most commonly described in the literature. We review the clinical features and biological mechanisms of ANKRD26-related thrombocytopenia and summarize known cases in the literature.
Asunto(s)
Predisposición Genética a la Enfermedad , Trombocitopenia , Regiones no Traducidas 5' , Humanos , Péptidos y Proteínas de Señalización Intercelular/genética , Mutación , Prevalencia , Trombocitopenia/genética , Trombocitopenia/patología , Factores de Transcripción/genéticaRESUMEN
Burns are an unexpected adverse event of magnetic resonance imaging (MRI). We present an interesting case of a patient who underwent an MRI and suffered a second degree burn to their inner thighs thought to be caused by the creation of a "tissue-loop." It is important that clinicians and technicians are aware of this adverse event to help prevent further occurrences in this commonly used imaging modality.
