The New England journal of medicine
-
Endotracheal extubation should be performed without causing trauma, while maintaining adequate oxygenation and ventilation. The equipment needed to provide suction, ventilation, and reintubation should be readily available. ⋯ Before performing extubation, the clinician must carefully prepare the medical resources needed to address reasonably foreseeable complications. A failed extubation can lead to a precipitous deterioration in the patient's condition, and attempts to improvise solutions under these challenging circumstances are rarely satisfactory.
-
The gray platelet syndrome is a hereditary, usually autosomal recessive bleeding disorder caused by a deficiency of alpha granules in platelets. We detected a nonsense mutation in the gene encoding the transcription factor GFI1B (growth factor independent 1B) that causes autosomal dominant gray platelet syndrome. ⋯ The GFI1B mutant protein inhibited nonmutant GFI1B transcriptional activity in a dominant-negative manner. Our studies show that GFI1B, in addition to being causally related to the gray platelet syndrome, is key to megakaryocyte and platelet development.