The purpose — to study the possibility of using rs9939609 T/A polymorphisms of the FTO gene, rs5219 C/T of the KCNJ11 gene, rs1801282 C/G of the PPARG gene, rs8192678 G/A of the PPARGC1A gene, rs12255372 G/T and rs7903146 C/T of the TCF7L2 gene as markers for predicting the risk of developing type 2 diabetes mellitus in patients with T2DM risk factors. Material and methods. 112 overweight/obese patients from the Republic of Tatarstan (79% women and 21% men) aged 22 to 79 years participated in a single–center observational cohort 3-year prospective study. All patients were clinically examined, glucose tolerance test was performed, the level of glycated hemoglobin was determined, and polymorphisms rs9939609 T/A of the FTO gene, rs5219 C/T of the KCNJ11 gene, rs1801282 C/G of the PPARG gene, rs8192678 G/A of the PPARGC1A gene, rs12255372 G/T and rs7903146 C/T of the TCF7L2 gene were studied using PCR in real-time mode. Statistical analysis was performed with R 4.1.0 software. Univariable and multivariable logistic regression modeling were performed to evaluate association between outcomes and possible predictors. Area under the ROC-curve and Nagelkerke pseudo R-squared was used to compare prognostic performance of predictors. Results. According to the result of logistic regression (p=0.003), the carrier of the T allele KCNJ11 rs5219 is an independent risk factor for T2DM regardless of gender, age, waist circumference (WC), waist–hip ratio (WHR) and waist-to-height ratio (WHtR) and can be attributed as a marker of increased risk of T2DM. The inclusion of this polymorphism into T2DM clinical risk models, taking into account gender, age, maternal obesity, WHR and WHtR indices showed an increase of AUC from 0.74 to 0.78 (p=0.012) and from 0.73 to 0.79 (p=0.0056), respectively. Conclusion. The rs5219 polymorphism of the KCNJ11 gene can be used as an independent marker for predicting the risk of developing type 2 diabetes mellitus. The inclusion of this polymorphism in the risk model, which takes into account, in addition to the maternal obesity, the indices of WHtR or WHR, improves its predictive ability.
In the recent decades the most acute issues are those of the timely diagnostics, development and introduction of prophylactics and treatment methods for complications which are associated with the intolerance of drugs used to normalize the thyroid gland function in thyrotoxicosis. The need to solve these problems is due to the frequency and severity of the disease course, requiring the use of radical treatment methods. This review provides the information about the side effects and complications of thyrostatic therapy.
The article presents a clinical case of a patient with chronic adrenal insufficiency, developed during many years of using glucocorticoid-containing ointments for the treatment of psoriasis. The anamnesis, laboratory results, diagnostic justification, treatment and dynamic monitoring are presented. It was noted that a change in treatment and prescription of systemic glucocorticoids led to a positive trend in clinical symptoms, confirmed by laboratory results and the general condition of the patient. The lack of alertness of patients and doctors when using local glucocorticoid therapy may be one of the causes of the development of chronic adrenal insufficiency. At the same time, correctly selected glucocorticosteroid therapy helps to stabilize the course of the underlying disease and reduce the risk of unwanted effects.
The adrenal insufficiency etiology could be unclear in some patients. The presented clinical case describes a situation where the clinical data, laboratory and instrumental methods of research were not enough for the correct etiology determination, and a histological examination required for the correct diagnosis. The absence of primary tuberculous lesion in the lungs could not exclude tuberculous etiology of adrenal insufficiency.
The gastrointestinal tract is affected in diabetes all over, but the clinical manifestations are often «mosaic» character. Typical disorders of the upper gastrointestinal include profound violation evacuation function of the stomach (fast evacuation, gastroparesis). Abnormal gastric emptying is still the only marker of the above defect in neuromuscular apparatus of the stomach. Transabdominal ultrasound is a simple non-invasive method for assessing the function of the stomach. ). As shown by recent studies, ultrasound diagnosis allows to identify disorders of the motor-evacuation function of the stomach in the development of diabetic gastropathy. With good glycemic control type 1 diabetes, namely, when the recommended targets for glycated hemoglobin (HbAlc) and lower daily blood glucose variability are archieved motor-evacuation function of the stomach stay intact. This paper presents a clinical case of disorders in motor-evacuation function of the stomach in patients with type 1 diabetes mellitus (T1DM) with frequent hypoglycemic state. Patient is receiving insulin by multiple subcutaneous insulin injections. During hospitalization, an ultrasound of gastric motility was performed, specially developed ultrasound test drinking loads, set the echo signs of rapid evacuation of the stomach and the gatekeeper failure. Based on the results of the study it was decided to establish a wearable insulin pump. After the establishment of the insulin doser and the selection of the above doses, the patient is not mentioned hypoglycaemia.
The aim of the research was to assess the diagnostic value of heart rate variability (HRV) indicators in diabetes cardiovascular autonomic neuropathy (DCAN) diagnostics in patients with diabetes mellitus of type 1. The study involved the examination of HRV (independent tests and 24-hour ECG) in 30 patients with type 1 diabetes. The prevalence of DCAN in patients with diabetes mellitus was 43%. Patients with DCAN had longer duration of diabetes, lower glomerular filtration rate and suffered from peripheral neuropathy more often than patients without DCAN. The ОНЧ, НЧ и ВЧ fluctuations reduced fasterthan the changes in vegetative tests, however in 85% of cases these changes were accompanied by at least one positive result of vegetative tests. The deep breathing test had the highest diagnostic value among the battery of cardiovascular tests.
Over the past 20 years debated about which approach is the most modern and best way to deliver insulin: insulin pump therapy or intensive. Clinical trials that compared the effectiveness of insulin pump therapy showed improvement in average blood glucose, glycosylated hemoglobin in groups, using an insulin pump, compared with the group on intensified insulin therapy.