Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X gene variant.

Background: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by the lack of adipose tissue and metabolic complications with predominantly autosomal recessive inheritance. There are 6 different genes known to cause CGL with 4 main types recognized to date, which differ by the degree of fat loss, association with mental retardation and metabolic disorders, with CGL type 1 and 2 being the most common. Twenty seven cases of СGL type 4 from Japan, Oman, UK, Turkey, Mexico, Saudi Arabia, USA were reported previously.

[A 20-year prospective follow-up study to evaluate the development of retinopathy and nephropathy after the onset of type 1 diabetes mellitus: Contribution of glycemic control and metabolic memory].

Aim: To assess the time course of changes in the level of glycated hemoglobin (HbA1c) for 20 years after the onset of type 1 diabetes mellitus (T1DM) and to compare its correlation with the development of microvascular complications, such as diabetic retinopathy (DR) and diabetic nephropathy (DN).

Subjects And Methods: A total of 187 children with new-onset T1DM were registered in Moscow in 1994. During the 20-year follow-up study, these patients underwent regular check-ups at the Endocrinology Research Center, Ministry of Health of the Russian Federation, which included assessment of physical data, HbA1c 2-4 times a year, biochemical blood and albuminuria tests (once per year), and ophthalmologic examination (twice a year).

[Use of human insulin analogues in young patients with type 1 diabetes mellitus: Results of the RESULT observational program on the use of insulin glargine (Lantus) in combination with insulin glulisine (Apidra) as a basal-bolus regimen].

Aim: To implement in 2009-2012 the RESULT observational program on the use of insulin glargine (Lantus) in combination with insulin glulisine (Apidra) as a basal-bolus regimen in patients with type 1 diabetes mellitus (DM) to evaluate the efficiency and safety of therapy with human insulin analogues.

Material And Methods: The program covered 100 patients aged 19 to 25 years from 7 regions of the Russian Federation, who had had DM onset at the age of 9-13 years, were using human recombinant insulins as continuous insulin therapy, and had glycated hemoglobin (HbA1c) levels of 7 to 9%. The main inclusion criterion was switching to insulin therapy with the human insulin analogues Lantus and Apidra.