WES-based screening of 7,000 newborns: A pilot study in Russia.

The effective implementation of whole-exome sequencing- and whole-genome sequencing-based diagnostics in the management of children affected with genetic diseases and the rapid decrease in the cost of next-generation sequencing (NGS) enables the expansion of this method to newborn genetic screening programs. Such NGS-based screening greatly increases the number of diseases that can be detected compared to conventional newborn screening, as the latter is aimed at early detection of a limited number of inborn diseases. Moreover, genetic testing provides new possibilities for family members of the proband, as many variants responsible for adult-onset conditions are inherited from the parents.

[Differential diagnosis of epileptogenic substrates of unknown etiology using a modification of the routine MRI protocol].

Objective: To evaluate the diagnostic capabilities of modifying the standard MRI protocol as part of an interdisciplinary presurgical examination of patients with epileptogenic substrates of unknown etiology.

Material And Methods: The results of dynamic MRI of 8 patients with a referral diagnosis of focal cortical dysplasia (FCD) were analyzed. In 7 patients, epilepsy was the reason for a standard MRI of the brain; in another patient with myasthenia, MRI was performed as part of a comprehensive examination.

High production of flavonols and anthocyanins in Eruca sativa (Mill) Thell plants at high artificial LED light intensities.

Eruca sativa (arugula) is a food crop containing valuable bioactive flavonoids. Plants growing with monochrome light-emitting diodes (LED) and "binary" light sources, including red/blue (RB), were tested using HPLC-DAD-ESI-MS/MS. Most artificial lighting options with a high intensity of 1000 μmol ms (except for warm white light) resulted in an almost 20-fold increase in flavonol productivity.

[The presurgical evaluation of patients with drug-resistant epilepsy].

Comprehensive multimodal examination of patients with focal refractory epilepsies is currently a prerequisite for high-quality pre-surgical diagnostics, which aims not only to expand the indications for radical treatment of epilepsy, but also to avoid the appearance of severe postoperative deficits. High-resolution MRI plays a key role in preoperative assessment. In this review, we illustrate the modern aspects of a pre-surgical diagnostical complex in examinations of patients with focal drug-resistant epilepsy, including the possibilities of neuroimaging.