Development of metabolic syndrome at a young age as a manifestation of familial partial lipodystrophy type 3 (PPARG mutation): the first description of its clinical case in Russia

Metabolic syndrome (MS) is extremely common (20%–25% of the world’s population), and its diagnostic criteria are defined and well known. It has been shown that patients who have MS are twice as likely to die from a cardiovascular complication and three times as likely to suffer from it compared with patients without MS. However, the underlying cause of MS remains to be clearly elucidated, although inherited factors, such as insulin resistance (IR), and external factors are considered to play a key role in this process. Special attention should be paid to MS in young patients, who may present the first manifestation of inherited lipodystrophy. The study describes the first known family in Russia (three clinical cases) with familial partial lipodystrophy (FPLD) type 3 caused by heterozygous p.R212Q PPARG mutation (MIM#601487). The study reports rare forms of inherited IR, such as FPLD, and contributes to a better understanding of common disorders such as MS

Federal targeted programme 'Prevention and Management of Socially Significant Diseases (2007-2012)': results of the 'Diabetes mellitus' sub-programme

During 2007-2012 years the ?Diabetes mellitus? sub-programme reached the performance targets with the following results. Development of the State Diabetes Register covering all regions of the Russian Federation. The Register facilitates the continuous evaluation and planning of diabetes care in this country, analysis of epidemiological dynamics (including incidence and mortality in diabetes population) and human resources management. Alteration of the demographics of the national diabetes population, specifically: - an increase in life expectancy among T1DM patients: up to 56.7 years (+3.8 years) in males and up to 60.8 years (+4.1 years) in females; an increase in life expectancy among T2DM patients: up to 72.4 years (+3.2 years) in males and up to 74.5 years (+2.9 years) in females; - a reduction in mortality of diabetes patients for 28.4%;  Introduction of novel technologies for diagnostics, prevention and management of DM and its complications, that, in turn, allowed to: - decrease the incidence of diabetic nephropathy for 16.1% and extend the pre-dialysis period; - decrease the incidence of diabetic retinopathy for 11.4% and preserve vision in 86-91% patients who still develop this complication; - decrease the frequency of upper- and lower-level amputations for 24% and 28%, respectively, and to reduce the ulcer healing times 2.5 to 3-fold; Introduction of safe and highly efficient human recombinant insulin and its analogues in the regions of the Russian Federation, along with modern methods of insulin administration and outpatient blood glucose monitoring. Establishment of diabetes educational centres (more than 1100 in the regions of the Russian Federation) that resulted in substantial reduction of number and frequency of diabetes-associated hospital admissions. The sub-programme is estimated to have saved 6 727 596.9 thousand Russian rubles of the budgetary funds due to decrease in the incidence of microvascular complications. A total of 360 papers (including 35 in international medical journals), as well as 81 clinical guidance manuals and 23 monographs were published during the course of this sub-programme