A targeted sequencing reveal overlapping pattern of genetic variants in patients with cardiomyopathy with cardiac arrhythmias in Kazakhstan

Ventricular tachycardia (VT) is a common symptom in cardiac disorders of different etiology. Abnormalities of ion channels are attributed to mutations in the genes encoding the channel protein and cause altered function of channels, which can predispose to arrhythmias. Due to the high incidence of cardiovascular disorders in Kazakhstan, we enrolled a study cohort of 95 patients of different clinical phenotypes of cardiomyopathies, including DCM, idiopathic VT but also patients with myocardial infarction as a consequence of coronary heart disease. The common denominator among the three main groups was the occurrence of severe episodes of VT in all patients. Using targeted resequencing, we investigated 96 cardiomyopathy associated candidate-genes in this cohort with the aim to detect rare and common variations in these genes associated with VT molecular basi

Whole genome sequencing of mycobacterium tuberculosis in Kazakhstan: first sequence results of two clinical isolates

The project is aimed to create the prerequisites for a personalized approach to the diagnosis and treatment of tuberculosis (TB) by identifying and comparing the whole genome sequences of M.tuberculosis strains isolated in Kazakhstan. Analysis for whole genome sequences obtained using the next generation sequencing technology will clarify the factors cause of the formation of highly virulent strains of M.tuberculosis, the evolution of local strains, and genetic markers of drug resistance

Association of vitamin D receptor (FOKI, TAQI, APAI & BSMI) and IF-y genes' polymorphisms with risk of developing pulmonary TB (PTB) among Kazakhstani population

Almost one third of the world's population is infected with Mycobacterium tuberculosis (MTB) and only 10% of them will develop any active form of the disease. TB is second (1s t is HIV/AIDS) greatest killer worldwide due to a single infectious agent. In 2012, 8.6 million people developed active TB and 1.3 million died. Over 95% of TB deaths occur in developing countries. In 2012, an estimated more than half million children became ill with TB and 74 000 of them died. The TB cases are declining annually, but very slowly. Multi-drug resistant TB (MDR-TB) and extensively drug-resistant tuberculosis (XDRTB) is present in almost all surveyed countries. Kazakhstan is not highly burdened by TB. Kazakhstan is the list of MDR-TB and XDR-TB burden countries. Our aim is to investigate an association of Vitamin D receptor (FokI, TaqI, ApaI & BsmI) and IF-y genes" polymorphisms with risk of developing pulmonary TB (PTB) among Kazakhstani population

Chitosan/poly(2-ethyl-2-oxazoline) films for ocular drug delivery: Formulation, miscibility, in vitro and in vivo studies

Polymeric films were prepared based on chitosan and its blends with poly(2-ethyl-2-oxazoline) by casting from aqueous solutions. These materials were characterised using a number of physicochemical techniques, including Fourier-transform infrared spectroscopy, thermal gravimetric analysis, differential scanning calorimetry, wide angle x-ray diffraction, tensile testing and scanning electron microscopy. All these studies indicate that there is a weak intermacromolecular hydrogen bonding between these polymers, which facilitates their complete miscibility in solid state. These films were formulated with sodium fluorescein as a model drug and were evaluated for their potential application in ocular drug delivery both in vitro and in vivo. It was established that the films are biocompatible and mucoadhesive; they are capable of providing a sustained drug release when administered topically on the cornea

RESEARCH HYDRATION STRUCTURE FORMATION OF HIGH-TEMPERATURE GYPSUM BINDERS ON THE BASIS OF KHUJAKUL DEPOSITS

The article discusses the processes of high-temperature gypsum binder from the Khujakul deposit of the Republic of Karakalpakstan, in the temperature range of 550-1000°C and simulating the decomposition of its compositions, the phase composition of the resulting products, the main patterns of structure formation are established depending on the phase composition of the original binder.The results of the influence of the concentration of Ca(OH)2 on the strength of the structure in concentrated suspensions of gypsum at different temperatures are presented.The ways of regulating the properties of various gypsum binders with the help of additives and rational use of natural gypsum for the production of high-temperature gypsum binder for rocks with a predominance of the clay-carbonate part have been determined.21 As a result of high-temperature firing (800-1000°C) of carbonate-gypsum mixtures,a binder material with the ability to hydraulic hardening can be obtained

Genetic architecture of Kazakh population

The aim of the project is to define genetic architecture of Kazakh population by sequencing and analyzing whole exomes and whole genomes of Kazakhs living in different regions of Kazakhsta