RESUMEN
Cutaneous venous malformations frequently present with blue-pink lesions on the skin or mucosal surfaces. They can be problematic for patients who experience pain or unsightly lesions and can also be associated with significant bleeding. A proportion of venous malformations have been noted to occur in families, in particular glomuvenous malformations (GVMs). A 'two-hit' occurrence of genetic pathogenic variants appears to explain the appearance of GVMs, with the initial change in the germline copy of GLMN followed by a second somatic hit. Here we discuss a report of siblings experiencing such lesions, which were diagnosed as GVMs by genetic testing. We include a review of the literature regarding the clinical and genetic differences between these groups of venous malformations.
Asunto(s)
Tumor Glómico , Neoplasias Cutáneas , Malformaciones Vasculares , Proteínas Adaptadoras Transductoras de Señales/genética , Tumor Glómico/diagnóstico , Humanos , Paraganglioma Extraadrenal , Neoplasias Cutáneas/patología , Malformaciones Vasculares/diagnóstico , Malformaciones Vasculares/genéticaRESUMEN
RNA interference (RNAi) in transgenic maize has recently emerged as an alternative mode of action for western corn rootworm (Diabrotica virgifera virgifera) control which can be combined with protein-based rootworm control options for improved root protection and resistance management. Currently, transgenic RNAi-based control has focused on suppression of genes that when silenced lead to larval mortality. We investigated control of western corn rootworm reproduction through RNAi by targeting two reproductive genes, dvvgr and dvbol, with the goal of reducing insect fecundity as a new tool for pest management. The results demonstrated that exposure of adult beetles, as well as larvae to dvvgr or dvbol dsRNA in artificial diet, caused reduction of fecundity. Furthermore, western corn rootworm beetles that emerged from larval feeding on transgenic maize roots expressing dvbol dsRNA also showed significant fecundity reduction. This is the first report of reduction of insect reproductive fitness through plant-mediated RNAi, demonstrating the feasibility of reproductive RNAi as a management tool for western corn rootworm.
