Point-of-care ultrasound diagnosis of a pyogenic liver abscess in the emergency department.

Pyogenic liver abscess (PLA) is a rarely encountered condition in the emergency department (ED) that necessitates a timely diagnosis by the emergency physician. An early ED diagnosis is challenging as the presenting symptoms of PLA are often variable and nonspecific. The rapid bedside diagnosis of PLA with point-of-care ultrasound (POCUS) performed by emergency physicians has not been investigated thoroughly. This case report describes the expeditious identification and ED management of PLA by implementing emergency physician-performed POCUS as the initial diagnostic modality.

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.

Patients with unclear patterns of developmental and cognitive delay may go years without a definitive diagnosis despite extensive testing due to overlapping phenotypes of many genetic disorders. In this study, we identified causative variants in DYRK1A, KARS, or KAT6A in four individuals with global developmental delay and various findings including microcephaly and sensorineural hearing loss using whole exome sequencing. We present the cognitive, neurologic, and physical findings of four individuals to expand the clinical knowledge of possible features of the phenotypes of three rare genetic disorders. Through this process, we provide support for the use of whole exome sequencing in the setting of severe, intellectual disability or in those in whom a genetic disorder is suspected despite initial negative testing.