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. Our clinical and imaging data showed no evidence of the previously reported white matter or cerebellar involvement; instead the affected brain structures included the striatum and red nuclei with the ensuing clinical manifestations. Our transcriptome-wide investigations revealed an overall decrease in the levels of Pol III-transcribed tRNAs and an imbalance in the levels of regulatory ncRNAs such as small nuclear and nucleolar RNAs (snRNAs and snoRNAs). In addition, the Pol III mutation was found to exert complex downstream effects on the Pol II transcriptome, affecting the general regulation of RNA metabolism.

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The objective of this study is to analyze the distribution of the most common diagnoses observed in patients with chronic temporomandibular disorders, based on the new diagnostic criteria (DC/TMD) adopted in 2014. The previous Research Diagnostic Criteria (RDC/TMD) adopted in 1992, consisted of three main groups of eight diagnostic subgroups and is currently transformed into two main groups and twelve subgroups, respectively. All subgroups correspond to the nomenclature of the ICD-10. The new clinical diagnostic indices are also modifi ed. The analysis showed a prevalence of Pain-Related TMD compared with that of intra-articular disorders in ratio 57.89% to 42.10%. In Pain-Related TMD arthralgia was represented in 55% of cases; local myalgia -in 12%, myofascial pain -in 18%, myofascial pain with referral -in 14%, headache attributed to TMD -in 1%. In Intra-articular TMD disc displacement with reduction was found in 23% of the cases, disc displacement with reduction with intermittent locking -in 3%, disc displacement without reduction with limited opening -in 25%, disc displacement without reduction and without limited opening -in 8%. Degenerative diseases were found in 14.28%, and hypermobility and subluxations -in 26.98%. These analyzes differ and can only partly be compared with previous analyzes based on RDC system. The changes in the diagnostic criteria require new clinical studies in order to refi ne the picture of temporomandibular pathology in accordance with the modern views on the matter.

Summary. The objective of this study was to test the clinical effectiveness of the gallium-aluminum-arsenide laser (GaAlAs; 785 nm) and superluminiscent diodes (633 nm) phototherapy (MedX 1100 device) for the treatment of patients with temporomandibular disorders and myofascial pain syndrome. The results demonstrated a positive effect in pain relief. A signifi cant reduction (p < 0.05) in the level of pain was observed for the temporomandibular joint and for the masseter muscles using paired samples t-test and Wilcoxon signed rank test. The experimental study on pork muscle samples showed that a) the main part of laser radiation is absorbed by the tissue in thin layer of 3-4 mm, b) in the spectral region 650-950 nm the intensity of light penetration is about 0.2-0.25 percent of the initial light intensity.