Atlantooccipital assimilation associated with combined atlas arch defect: a radiological case report.

In this report, atlantooccipital assimilation (AS), anterior arch defect (AAD), and posterior arch defect (PAD) of the atlas, and several variations around the craniocervical junction were identified on computed tomography (CT) of a patient of unknown sex and age. Coronal and sagittal CT scans showed AS and bilateral fusion of the atlas and the base of occipital bone. Axial CT scan at the atlas revealed PAD type B on the left side and midline AAD. Morphometric measurements indicated a potential ventral spinal cord compression. In addition, mid-sagittal CT revealed the presence of fossa navicularis magna and incomplete formation of the transverse foramen on the right side. This study reports an extremely rare AS associated with AAD, PAD, and other variations of the clivus and the atlas. To our knowledge, no similar case has been reported in the literature.

eEF1A2 knockdown impairs neuronal proliferation and inhibits neurite outgrowth of differentiating neurons.

OBJECTIVES: The translation elongation factor-1, alpha-2 (eEF1A2) plays an important role in protein synthesis. Mutations in this gene have been described in individuals with neurodevelopmental disorders. Here, we silenced the expression of eEFA2 in human SH-SY5Y neuroblastoma cells and observed its roles in neuronal proliferation and differentiation upon induction with retinoic acid. METHODS: eEF1A2 were silenced using siRNA transfection. Cell proliferation was qualitatively evaluated by Ki-67 immunocytochemistry. Neuronal differentiation was induced with retinoic acid for 3, 5, 7 and 10 days. Neurite length was measured. The expression of microtubule-associated protein 2 (MAP2) was analyzed by western blotting. Tyrosine hydroxylase expression was visualized by immunofluorescence. Cytotoxicity to a neurotoxin, 1-methyl-4-phenylpyridinium (MPP+), was assessed by the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl-2H-tetrazolium bromide (MTT) assay and western blotting of cleaved caspase-3. RESULTS: eEF1A2 knockdown suppressed the proliferative activity of undifferentiated SH-SY5Y cells as shown by decreased Ki-67 immunostaining. Upon retinoic acid-induction, differentiated neurons with eEF1A2 knockdown exhibited shorter neurite length than untransfected cells, which was associated with the reduction of tyrosine hydroxylase and suppression of MAP2 at 10 days of differentiation. eEF1A2 knockdown decreased the survival of neurons, which was clearly observed in undifferentiated and short-term differentiated cells. Upon treatment with MPP+, cells with eEF1A2 knockdown showed a further reduction in cell survival and an increase of cleaved caspase-3 protein. CONCLUSIONS: Our results suggest that eEF1A2 may be required for neuronal proliferation and differentiation of SH-SY5Y cells. Increased cell death susceptibility against MPP+ in eEF1A2-knockdown neurons may imply the neuroprotective role of eEF1A2.