Vol 62, No 3 (2016)

Original Studies
A polymorphic marker Val109Asp in the omentin gene are associated with abdominal obesity in the Kyrgyz population
Isakova Z.T., Talaibekova E.T., Asambaeva D.A., Kerimkulova A.S., Lunegova O.S., Aldasheva N.M., Aldashev A.A.
Abstract

Aim — in this study, we investigated whether polymorphisms Val109Asp in the omentin gene are associated with abdominal obesity in the Kyrgyz population.

Material and methods. We genotyped 297 nonrelated adults Kyrgyz individuals. 127 patients (male — 46, female — 81, average age — 53±7,0) with abdominal obesity (elevated waist circumferences ≥102 cm for male subjects and ≥ 88 cm for female) and 170 non-obese control subjects (male — 107, female — 63, average age 51±9). Val109Asp polymorphisms analysis in the omentin gene were performed by PCR-RFLP method.

Results. There were significant differences in genotype distributions of rs2274907 between the obese and control cohorts (p=0.01). Frequencies of Asp109Asp, Val109Asp and Val109Val genotypes among patients with abdominal obesity were 48, 40 and 12%, respectively, that differed from those among controls (Asp109Asp — 53%, Val109Aspl — 43% and Val109Val — 4%); there was significant difference in genotype frequencies between two groups (χ²=6,29; p=0,043). Homozygous genotype Val109Val was more frequent in the obese than non-obese group. The genotype Val109Val of omentin gene is associated with a high risk of developing abdominal obesity in the Kyrgyz population (OR=3,12; 95% CI 1,23—7,90). Homozygous genotype Asp109Asp, reduces the risk of developing abdominal obesity (OR=0,82; 95% CI 0,53—1,30). The allelic variants of the polymorphisms Val109Asp in the omentin gene were not found to be associated with abdominal obesity.

Conclusion. There is significant association between Val109Asp polymorphism in omentin gene and abdominal obesity in the Kyrgyz Population. An increased risk of abdominal obesity associated with homozygous genotype — Val109Val in omentin gene.

Problems of Endocrinology. 2016;62(3):4-8
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Case Reports
Сushing’s syndrome in early infancy due to МcCune—Albright syndrome
Makazan N.V., Orlova E.M., Kareva M.A., Poddybnyi I.V., Tolstov K.N., Polyakova G.A., Bogdanova P.S., Peterkova V.A., Dedov I.I.
Abstract

McCune—Albright syndrome (MAS) is a rare multisystem disorder, classically defined by the clinical triad of fibrous dysplasia of bones (FD), café-au-lait skin spots, precocious puberty (PP) and other hyperfunctioning endocrinopathies. Diagnosis can be made if there are at least 2 of the 3 classical features. It is caused by somatic mutations of the GNAS gene encodes stimulate α-subunit of G protein (Gas). Gas is crucial for mediating effects of the lot of peptide hormones. Increased activity of Gas leads to multisystem hyperfunction. Some features are common (such as gonadotropin-independent precocious puberty) and another signs occur seldom. The clinical presentation of MAS is variable, the features occur at the different age. One of the rare feature of the MAS is Cushing’s syndrome due to bilateral adrenal hyperplasia, which usually occurs in the neonatal period. We describe clinical case of ACTH-independent hypercortisolism in the boy with MAS.

Problems of Endocrinology. 2016;62(3):9-15
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Hereditary variant of diabetes mellitus caused by a defect of the NEUROD1 gene (MODY6): the first description in Russia
Gioeva O.A., Kolodkina A.A., Vasilyev E.V., Petrov V.M., Tiulpakov A.N.
Abstract

MODY (Maturity-Onset diabetes of the young) is a heterogeneous group of disorders characterized by autosomal dominant type of inheritance and caused by genetic defects leading to dysfunction of pancreatic b-cells. Currently 13 candidate genes of MODY, and, respectively, 13 MODY subtypes are known. The final diagnosis can be established only on the basis of molecular genetic studies, which is the «gold standard» in the diagnosis of this disease. MODY2 and MODY3 are the most prevalent subtypes and were previously described in our country. Rare MODY subtypes have not been described in Russian literature. In this article we describe the first diagnosed case of MODY6 in Russia (a defect of the NEUROD1 gene, encoding neurogenic differentiation factor 1, which plays an important role in normal differentiation of β-cells of the pancreas and the regulation of transcription of the insulin gene). Molecular genetic study was conducted using the method of next-generation sequencing, has recently been widely used for genetic verification of monogenic diseases and, in particular, MODY. Technology of next-generation sequencing for diagnosing inherited disorders of carbohydrate metabolism in domestic practice used for the first time.

Problems of Endocrinology. 2016;62(3):16-20
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Case of congenital hypothyroidism related to NKX2-1
Makretskaya N.A., Kalinchenko N.Y., Vasiliev E.V., Petrov V.M., Tiulpakov A.N.
Abstract

NKX2-1 is a transcription factor. Gene NKX2-1 is expressed in tissues of the thyroid gland, brain and lungs. Mutations of NKX2-1 can lead to neurological disorders, hypothyroidism, and respiratory distress syndrome. The combinations of these symptoms are known as brain-lung-thyroid syndrome. Benign hereditary chorea is the characteristic feature of this disease and the most common manifestation of it. Chorea progresses into the second decade after which it remains stable or may even spontaneously remit. Pulmonary dysfunction is the second most common manifestation of NKX2-1-related disorders. They include respiratory distress syndrome of the newborns, interstitial lung disease between ages four months and seven years and pulmonary fibrosis in older individuals. Thyroid dysfunction can present as congenital hypothyroidism or subclinical hypothyroidism in adolescents. The combination of triad of the syndrome is present in only 50% of patients. This study includes a description of patient with brain-lung-thyroid syndrome. We described the novel mutation c.628_772del in the gene NKX2-1.

Problems of Endocrinology. 2016;62(3):21-24
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Reviews
Bariatric surgery in the treatment of morbid obesity in adolescents (literature review)
Okorokov P.L., Vasyukova O.V., Dedov I.I.
Abstract

Morbid obesity in children is associated with various metabolic complications, often persisting into adulthood and leading to reduced quality and duration of life. Conservative treatment of morbid obesity, often ineffective, and therefore, bariatric surgery in adolescents is becoming more common throughout the world. This review presents an analysis of international clinical guidelines for patient selection for bariatric surgery, assessed the efficiency and safety of different types of bariatric operations and identified the main problems of the widespread use of metabolic surgery as a method of treatment of morbid obesity in adolescents.

Problems of Endocrinology. 2016;62(3):25-32
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Clinical guidelines
Assuring epidemiological safety for healthcare of patients with diabetes mellitus
Dedov I.I., Briko N.I., Andrianova E.A., Abramova I.M., Brusina E.B., Bunova A., Dementieva L.A., Igonina E.P., Karpushkina A.V., Kravchuk S.V., Laptev D.N., Mayorov A.Y., Panteleeva L.G., Pankratova M.S., Peterkova V.A., Petryaykina E.E., Polibin R.V., Rybkina I.G., Shestopalova T.N.
Abstract

Healthcare associated infections (HAI) — infections that patients develop during the course of receiving healthcare in hospitals, outpatient department and at home, out of healthcare facilities, and infection resulting from occupational exposure. Patients with diabetes are vulnerable to HAI. Infections increase metabolism problems in patients with diabetes; and vice versa, high blood glucose level increases risk of infections. For assuring epidemiological safety for patients with diabetes infection control must be provided for the following medical practices: insulin injections; blood glucose test; care of diabetes foot; intravascular catheterization and surgery. Any invasive procedures increase the HAI risk. HAI are most commonly transferred through direct and indirect contact with the infection. Some of the main HIA preventive practices: staff cleaning hands with alcohol based sanitizer, single use of medical gloves, single use of insulin needles and syringes. In health facilities only multiple users and multiple blood glucose monitoring devices must be used by health providers. The protocol of glucose blood testing should include detailed disinfection procedures and additional measures to decrease the risk of potentially transmitting disease between patients and between patients and providers. Health providers should have special skills to care of patients with diabetes foot to perform non-traumatic procedures and infections control practices. Proper hand hygiene and gloves use combined with effective aseptic technique before catheter insertion and maintenance protect against severe HAI. Risk of infections significantly decreases when single-dose antibiotic was used before surgery as antimicrobial prophylaxis. To disease risk of infections patients should be recommended to strictly control diabetes during the weeks before elective surgical procedures.

Problems of Endocrinology. 2016;62(3):33-60
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