Identification of a Novel FLT4 c.3028A>C Variant Associated With Milroy Disease.

VEGFR3 (FLT4) is crucial for embryonic lymphangiogenesis, and defects in this receptor can lead to congenital lymphedema type 1A (Milroy disease). This study analyses FLT4 gene sequence in 24 primary lymphedema patients, identifying genetic variants in five patients resembling typical Milroy disease. A novel likely pathogenic variant (c.

[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.

[Surgical treatment of true aneurysms of permanent vascular access].

Analyzed herein are the results of surgical treatment of true diffuse aneurysms of the permanent vascular access in 44 patients. Of these, there were 29 men and 15 women, mean age 48.1±2.

[Surgical treatment of patients with superior vena cava syndrome associated with permanent vascular access].

Presented herein are two clinical case reports concerning surgical treatment for superior vena cava syndrome in patients suffering from end-stage renal disease and undergoing programmed haemodialysis. Initially attempted roentgen-endovascular recanalization turned out to be unsuccessful. The patients were then subjected to ipsilateral extrathoracic bypass grafting, which made it possible to preserve the vascular access for programmed haemodialysis and to relieve venous hypertension of the limb and the brain, as well as to improve quality of life.

[Comprehensive physical antiedematous therapy in treatment of patients with lymphedema].

Presented in the article is retrospective analysis of the results of treatment of patients with lymphedema. We treated a total of 33 patients with primary (n=6) and secondary (n=27) lymphedema. Stage II lymphedema was diagnosed in 18 (54.