Research Results in Biomedicine
Volume 6, Issue №2, 2020
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Genetics
A novel heterozygous variant in exon 32 of the CHD7 gene (c.6923C>T) in a Syrian family with Kallmann syndrome
Background: Kallmann syndrome (KS) and CHARGE syndrome (CS) are rare heritable disorders in which anosmia and hypogonadotropic hypogonadism co-occur. KS is genetically heterogeneous with at least eight genes ...
Study of associations of haplotypes of FLG gene polymorphism with the development of chronic true eczema in men
Background: Eczema is a common chronic disease characterized by inflammation of the skin. The aim of the study: To analyze the involvement of haplotypes of polymorphic loci of ...
Molecular karyotyping of chromosomal anomalies and copy number variations (CNVs) in idiopathic forms of intellectual disability and epilepsy
Background: Genetic factors play an important role in the etiology of idiopathic intellectual disability and epilepsy. The intensive introduction of molecular cytogenetic technologies in medical practice has made ...
A replicative study of the associations of polymorphic loci of the LOXL1 and CDKN2B-AS1 genes with the development of primary open-angle glaucoma in men of the Central Black Earth Region of the Russian Federation
Background: Studying the genetic foundations of primary open-angle glaucoma (POAG) is an urgent task due to the fact that glaucoma is the main cause of low vision and ...
Association of RS12328675 COBLL1 polymorphism with coronary heart disease and intermediate phenotypes of atherosclerosis: validation study in Central Russia
Background: It is known that the development of coronary heart disease (CHD) as a polygenic multifactorial pathology is determined by a complex interaction between genetic and environmental factors. ...
Pharmacology
A study of neuroprotective properties of the MGLUR4 receptor agonist – ZC64-0001 in comparison with Mexidol
Background: One of the most common neurodegenerative diseases is Parkinson's disease, which is based on the degeneration of dopaminergic neurons of the substantia nigra. The modern treatment for Parkinson's ...
Modern possibilities of using the release-active drug Tenoten for Children in the clinical practice of autonomic disorders in children
Background: Among the pathological conditions found in children and adolescents, vegetative disorders occupy one of the leading places. The development of autonomic dysfunction is due to an imbalance ...
Exhaled nitric oxide as a predictor of the effectiveness of basic therapy for bronchial asthma in children
Background: The article discusses the predictive ability of monitoring nitric oxide in exhaled air relative to the level of control and the likelihood of developing exacerbations of bronchial ...
Medicine (miscellaneous)
Gender features of metabolic disorders in elderly patients with heart failure with mid-range ejection fraction
Background: Today, it is important to pay special attention to the increased incidence of heart failure developing with age. Pathogenetic mechanisms detected in metabolic syndrome and atherosclerosis indicate ...
Age aspects of rehabilitation and treatment of osteosarcoarthrosis
Background: In older age groups, the problem of osteoporosis is becoming more urgent and acute, as the development of bone fragility leads to numerous fractures and the development ...
Medical Occultism: prevalence and impact on clinical psychiatric practice
Background: Occult practices are widespread throughout the world and have a negative effect on adherents among patients. The aim of the study: To analyze the prevalence of medical ...
Features of the course of childbirth in preeclampsia of varying severity at the present stage
Background: Identification of complications of childbirth in preeclampsia will enable to improve perinatal outcomes in this group of women, as well as determine the criteria for early and ...
