-associated neurodevelopmental disorder.

Background: Dysfunction of histone methyltransferases and chromatin modifiers has been implicated in complex neurodevelopmental syndromes and cancers. encodes a lysine-specific methyltransferase that assists in transcriptional activation of genes by depositing H3K4 methyl marks. Previous reports of patients with rare variants in describe a distinctive phenotype that includes seizures, global developmental delay and intellectual disability.

Imaging Acute Airway Obstruction in Infants and Children.

Acute airway obstruction is much more common in infants and children than in adults because of their unique anatomic and physiologic features. Even in young patients with partial airway occlusion, symptoms can be severe and potentially life-threatening. Factors that predispose children to airway compromise include the orientation of their larynx, the narrow caliber of their trachea, and their weak intercostal muscles.

Pearls for Interpreting Computed Tomography of the Cervical Spine in Trauma.

The high morbidity and mortality associated with cervical spine injuries makes identification and classification essential. It is important to have a systematic approach to evaluation, especially in the trauma setting with other distracting injuries. Understanding the anatomy and biomechanics enables rapid and accurate interpretation of images.