[Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene].

Amyotrophic lateral sclerosis (ALS) is a sporadic disease in most of the cases; in 10-15% of cases genetic forms are recorded. A genetic form of ALS associated with the mutation in the gene (ALS19) has been reported in 2013. A protein encoded by the is probably involved in ubiquitous component of the pathogenesis of ALS.

[Complications of permanent vascular access for haemodialysis].

Permanent vascular access is the basis of renal replacement therapy by the method of programmed haemodialysis, on whose stable functioning depends the life of patients with end-stage renal disease. At the present time, there is significant deficit of scientific and methodological Russian-language literature on this problem, with no Russian consensus documents concerned. This article is a review of the contemporary world literature dedicated to the problem of permanent vascular access, including currently in force European (2018) and North American (2019) guidelines for good clinical practice, also discussing the problems of strategy and tactics of creating a permanent vascular access, monitoring its dysfunction, pathophysiology of functioning of arteriovenous fistulas.

[Experience with endovascular treatment of iliac artery aneurysms].

Iliac artery aneurysms are relatively uncommon, however requiring early diagnosis and treatment because of high mortality once ruptured. Endovascular correction is currently a method of choice. The standard iliac components of aortic stent grafts have a linear or distally widening shape, whereas the anatomy of aneurysms of iliac arteries requires, as a rule, a larger diameter of the proximal zone of shrinkage.

[L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene].

The authors present a case-report of 13 year-old girl with L-2-hydroxyglutaric aciduria [MIM#236792], a rare autosomal/recessive metabolic disorder caused by mutations in the L-encoding 2-hydroxyglutarate dehydrogenase (L2HGDH, 14q21.3). Clinical signs of the disease are presented by predominantly neurological symptoms (epilepsy, cerebellar ataxia, cognitive impairment).

[Prevalence of an abnormal ankle-brachial index in the Republic of Tatarstan].

The ankle-brachial index (ABI) was determined in a total of 1,751 employees of industrial enterprises of the Republic of Tatarstan aged from 45 to 84 years old (mean age 55,3 ± 0,14 years). An abnormal ABI was registered in 5,1% of the examined people (4,1% in the age group from 45 to 55 years, 5,4% in 56-65-year-old patients, and 12,1% in subjects over 65 years (p=0,001). An abnormal ABI was registered in 8.