Do pYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive?
PYCR2-related syndrome represents a clinically recognizable condition in which PYCR2 mutations lead to protein dysfunction, not detectable on routine biochemical assessments. Mutations predict a poor outcome, probably as a result of impaired mitochondrial function. Ann Neurol 2016;80:59-70.
MR elastography demonstrated excellent performance for distinguishing the stages of hepatic fibrosis in patients with chronic HBV infection. For hepatic tissue with ≤ F2 fibrosis, necroinflammation can account for a substantial fraction of the increase in hepatic stiffness.