Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.

RNA polymerase III is essential for the transcription of non-coding RNAs, including tRNAs. Mutations in the genes encoding its largest subunits are known to cause hypomyelinating leukodystrophies (HLD7) with pathogenetic mechanisms hypothesised to involve impaired availability of tRNAs. We have identified a founder mutation in the POLR3A gene that leads to aberrant splicing, a premature termination codon and partial deficiency of the canonical full-length transcript.

Quantitative assessment of pterygomasseteric hypertrophy.

The aim of this study was to quantify the pterygomasseteric hypertrophy in a clinical case with significant facial asymmetry and temporomandibular joint dysfunction. Magnetic resonance imaging (MRI) technique was used to measure the surface areas of affected and contralateral pterygomasseteric muscle groups on six coronal scans. The results suggest that MRI is a very effective method for quantification of muscular hypertrophy and better explanation of associated clinical findings, therefore motivating the need to preserve or restore the bilateral masticatory function.

[Calcifying odontogenic epithelial tumor--a clinical and morphological study].

The authors describe the clinical and morphological study of a calcifying epithelial odontogenic tumor, localized in the right mandibular angle and in the ascending branch, in a 29-years-old male patient. It is emphasized that this benign and non invasive tumor presents poor clinical manifestations, a typical radiological aspect and a characteristic histomorphology, allowing the diagnosis. Polygonal epithelial cells, amyloidosis and calcified deposits are the distinctive traits of the histomorphology.