Identification of new candidate genes and signalling pathways associated with the development of neuroendocrine pancreatic tumours based on next generation sequencing data.

Despite advances in classification, treatment, and imaging, neuroendocrine tumours remain a clinically complex subject. In this work, we studied the genetic profile of well-differentiated pancreatic neuroendocrine tumours (PanNETs) in a cohort of Caucasian patients and analysed the signalling pathways and candidate genes potentially associated with the development of this oncological disease. Twenty-four formalin-fixed paraffin-embedded (FFPE) samples of well-differentiated PanNETs were subjected to massive parallel sequencing using the targeted gene panel (409 genes) of the Illumina NextSeq 550 platform (San Diego, USA).

[The clinico-electrocardiographic classification of the early ventricular repolarization syndrome].

Based on an analysis of 4980 ECGs of patients, the authors could distinguish and classify the clinico-electrocardiographic versions of the early ventricular repolarization syndrome (EVRS): permanent, occurring for the first time, suddenly disappearing, intermittent with a gigantic T wave; with a negative T wave, with a short-term T wave inversion, marked by the combination with Wolff-Parkinson-White syndrome, and additional chordae of the left ventricle. The clinico-electrocardiographic classification of the EVRS is of paramount importance for practitioners owing to an assumption that the EVRS is not only a version of the normal ECG but also can be a marker of CHD. The authors view the EVRS as an independent version of the preexcitation syndrome along with Wolff-Parkinson-White and CLK syndromes, with the manifestations of which it may combine.

[Early ventricular repolarization syndrome in patients with heart defects].

The prevalence of the early ventricular repolarization syndrome (EVRS) was examined in 129 patients with congenital and acquired heart diseases. Dynamic ECG values were assessed. The most prevalence rate was found in patients with congenital heart disease (100%), aortic (80%), mitral (51%), and aorto-mitral valvular (60%) diseases.