Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.

Here we present a patient with a cranioectodermal phenotype associated with pathogenic variants in the gene. Most frequently, pathogenic variants in correspond to the phenotype of Mainzer-Saldino syndrome. Only four patients have previously been described with this cranioectodermal phenotype and variants in .

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.

Leigh syndrome (LS), also known as infantile subacute necrotizing encephalopathy, is the most frequent mitochondrial disorder in children. Recently, more than 80 genes have been associated with LS, which greatly complicates the diagnosis. In this article, we present clinical and molecular findings of 219 patients with LS and give the detailed description of three cases with rare findings in nuclear genes and , demonstrating wide genetic heterogeneity of this mitochondrial disease.

[Prevalence of aortal atherosclerosis in workers underwent occupational irradiation].

The authors evaluated prevalence of aortal atherosclerosis in dependence on radiation and non-radiation factors in workers underwent occupational prolonged irradiation.The study included 22,377 workers of nuclear industry enterprise "Mayak", with verified diagnosis of aortal atherosclerosis. Up to 31th December 2008, a total of 1,840 aortal atherosclerosis cases were registered in the examinees group.

[Effectiveness of 3-hydroxypyridine and succinic acid derivatives in complex treatment of primary open-angle glaucoma].

Prospective, placebo-controlled, single-blind, randomized clinical investigation of the influence of domestic 3-hydroxypyridine and succinic acid derivatives (emoxipin, reamberin, mexidol) on the effectiveness of a complex treatment of primary open-angle glaucoma (POAG) has been performed in a group of patients. It is established that intravenous infusion of 3-hydroxypyridine derivatives (emoxipin and mexidol) for two weeks, beginning 14 days after the start of POAG treatment, produced a retinoprotective action, with three months postponed changes in the central retinal artery (CRA) blood velocity. The retinoprotective effect of emoxipin (single dose, 150 mg) was manifested by reduction in the horizontal size of blind spot in two weeks, with the subsequent reduction of the CRA end-diastolic blood velocity observed three months after finish of the infusion therapy.