DISTROPHIN GENE MUTATION SPECTRUM IN CHILDREN WITH DUCHENNE/BECKER PROGRESSING MUSCULAR DYSTROPHIES IN UZBEKISTAN

Duchenne and Becker progressing muscular dystrophies (D/BPMD) are the one of the most common congenital diseases of the neuromuscular system of juniors in the world. Along with the improvement in medical and genetic service and the quality of prevention and early diagnosis of congenital and hereditary diseases, there are a number of tasks that are pending, including medical and genetic counseling of hereditary diseases of the neuromuscular system in children. Direct DNA diagnostics was performed for 99 patients with D/BPMD from 86 families, 92 (92.9%) patients with DPMD, 7 (7.1%) patients with Becker PMD. The analysis was carried out on 20 exons of the dystrophin gene — the promoter region, 3, 4, 6, 8, 13, 17, 19, 32, 42, 43, 44, 45, 47, 48, 50, 51, 52, 53, 60 exons. Indirect diagnosis was performed in 21 families weighed by D/BPMD using intragenic highly polymorphic markers located in the 45th (STR-45), 49th (STR-49), 50th (STR-50) gene introns. Mutations in 18 exons out of 20 studied were identified, which necessitates further study of the deletion spectrum of mutations in the dystrophin gene in our population. In 35 patients (35.4%) of 32 families (37.2%), no deletions were detected, and in 64 patients (64.6%) of 54 families (62.8%), dystrophin gene deletions were detected with various lengths - from one to nine exons: in 70.4% of families extended deletions were verified (44 patients), deletions of one exon were found in 29.6% of families (20 patients). The heterozygous genotype STR-45 (CA) 28 is highly informative in identifying heterozygous carriers of the damaged dystrophin gene among relatives of the D/BPMD patient in Uzbekistan. There is huge demand for sequencing of a limited portion of the DMD gene to determine the point mutation of 32 exon in the dystrophin gene. Furthermore, carrying out prenatal diagnosis in high-risk families according to D/BPMD allowed to prevent the birth of sick children and reduce disability among children for this disease

Representación de la imagen lingüística del mundo a través de un factor humano

The article deals with the analysis of the role of the human factors in the representation of the linguistic world picture. In particular, it places a special emphasis on the way a human being perceives or interprets the world and through which a knowledge of the world is reflected and considers language a tool which helps to represent the world in connection with a human factor. Language is the most important argument in human life. We receive language at birth as a given; in the social environment and society, a person forms his worldview only through language. Linguistic picture of the world, it directly has a special role in reflecting the national mentality. And in every language picture of the world, there are categories of culture, to which value concepts can be attributed. A linguistic world picture is represented by the way he perceives, interprets, understands, expresses his or her natural language. Therefore, it is claimed that the language picture of the world should be studied in close connection with a human factor.El artículo aborda el análisis del papel del factor humano en la representación de la imagen lingüística del mundo. En particular, pone un énfasis especial en la forma en que un ser humano percibe o interpreta el mundo y a través del cual se refleja el conocimiento del mundo, y considera al lenguaje una herramienta que ayuda a representar el mundo en relación con un factor humano. El lenguaje es el argumento más importante en la vida humana. Recibimos el lenguaje al nacer como un hecho; En el entorno social y en la sociedad, una persona forma su cosmovisión solo a través del lenguaje. Imagen lingüística del mundo, directamente tiene un papel especial en reflejar la mentalidad nacional. Y en cada imagen lingüística del mundo, hay categorías de cultura a las que se pueden atribuir conceptos de valor. Una imagen lingüística del mundo está representada por la forma en que percibe, interpreta, comprende y expresa su lenguaje natural. Por lo tanto, se afirma que la imagen lingüística del mundo debe estudiarse en estrecha relación con un factor humano

The Use of Dietary Interventions in Pediatric Patients

Complementary and alternative treatment approaches are becoming more common among children with chronic conditions. The prevalence of CAM use among US adults was estimated to be around 42% in 2015 and around 44% to 50% among adults with neurologic disorders. Studies demonstrate that children with certain chronic illnesses such as asthma, cancer, genetic disorders, attention-deficit/hyperactivity disorder (ADHD), and other neurodevelopmental disorders are treated with complementary and alternative treatments at higher rates. Dietary therapies are gaining increasing popularity in the mainstream population. Although the majority of fad diets do not have enough supporting evidence, some dietary therapies have been utilized for decades and have numerous published studies. The objective of this review is to describe the dietary interventions used in children with the specific chronic conditions, to evaluate their efficacy based on published data and to encourage pharmacist involvement in the management and care of such patients

LINGUISTIC REPRESENTATION OF THE NATIONAL AXIOLOGICAL PICTURE OF THE WORLD

The article studies the uniqueness of the linguistic picture of the world as a real reflection of the national mentality. Linguistic means of assessing the national picture of the world in multisystem languages using phraseological units of an axiological nature are considered

Representación de la imagen lingüística del mundo a través de un factor humano

The article deals with the analysis of the role of the human factors in the representation of the linguistic world picture. In particular, it places a special emphasis on the way a human being perceives or interprets the world and through which a knowledge of the world is reflected and considers language a tool which helps to represent the world in connection with a human factor. Language is the most important argument in human life. We receive language at birth as a given; in the social environment and society, a person forms his worldview only through language. Linguistic picture of the world, it directly has a special role in reflecting the national mentality. And in every language picture of the world, there are categories of culture, to which value concepts can be attributed. A linguistic world picture is represented by the way he perceives, interprets, understands, expresses his or her natural language. Therefore, it is claimed that the language picture of the world should be studied in close connection with a human factor.El artículo aborda el análisis del papel del factor humano en la representación de la imagen lingüística del mundo. En particular, pone un énfasis especial en la forma en que un ser humano percibe o interpreta el mundo y a través del cual se refleja el conocimiento del mundo, y considera al lenguaje una herramienta que ayuda a representar el mundo en relación con un factor humano. El lenguaje es el argumento más importante en la vida humana. Recibimos el lenguaje al nacer como un hecho; En el entorno social y en la sociedad, una persona forma su cosmovisión solo a través del lenguaje. Imagen lingüística del mundo, directamente tiene un papel especial en reflejar la mentalidad nacional. Y en cada imagen lingüística del mundo, hay categorías de cultura a las que se pueden atribuir conceptos de valor. Una imagen lingüística del mundo está representada por la forma en que percibe, interpreta, comprende y expresa su lenguaje natural. Por lo tanto, se afirma que la imagen lingüística del mundo debe estudiarse en estrecha relación con un factor humano

The Use of Dietary Interventions in Pediatric Patients

Complementary and alternative treatment approaches are becoming more common among children with chronic conditions. The prevalence of CAM use among US adults was estimated to be around 42% in 2015 and around 44% to 50% among adults with neurologic disorders. Studies demonstrate that children with certain chronic illnesses such as asthma, cancer, genetic disorders, attention-deficit/hyperactivity disorder (ADHD), and other neurodevelopmental disorders are treated with complementary and alternative treatments at higher rates. Dietary therapies are gaining increasing popularity in the mainstream population. Although the majority of “fad” diets do not have enough supporting evidence, some dietary therapies have been utilized for decades and have numerous published studies. The objective of this review is to describe the dietary interventions used in children with the specific chronic conditions, to evaluate their efficacy based on published data and to encourage pharmacist involvement in the management and care of such patients

Representation of the Linguistic World Picture Through a Human Factor

The article deals with the analysis of the role of the human factors in the representation of the linguistic world picture. In particular, it places a special emphasis on the way a human being perceives or interprets the world and through which a knowledge of the world is reflected and considers language a tool which helps to represent the world in connection with a human factor. Language is the most important argument in human life. We receive language at birth as a given; in the social environment and society, a person forms his worldview only through language. Linguistic picture of the world, it directly has a special role in reflecting the national mentality. And in every language picture of the world, there are categories of culture, to which value concepts can be attributed. A linguistic world picture is represented by the way he perceives, interprets, understands, expresses his or her natural language. Therefore, it is claimed that the language picture of the world should be studied in close connection with a human factor

AUTOMATED AND ROBOTIC COMPLEX FOR INSPECTION OF RADIATION-POLLUTED AREAS AND DECOMMISSIONING OF NUCLEAR PHYSICAL INSTALLATIONS

This article discusses the development of an automated and robotic gamma-ray spectrometric complex for use in decommissioning nuclear physics installations, as well as in monitoring the radiation situation of radiation spent fuel storage facilities. The special physical and technical characteristics of the xenon gamma-ray spectrometer are presented, which can be expediently used as a recording device for gamma radiation of various types of radioisotopes, including radioactive control of the surrounding territory of objects dealing with the operation of nuclear physics installations

FACIAL PAIN: А MODERN VIEW OF THE PROBLEM OF DIAGNOSTIC AND THERAPY (A LITERATURE REVIEW)

The review presents modern views on the problem of diagnosis and treatment of facial pain. The classification of facial pain by development of mechanism is presented. Facial pain of various genesis is differentiate by its clinical features concerning to the nature, duration, paroxysmal, vegetative staining of pain syndrome. These distinctive features, as well as associated symptoms (if any), make it possible to determine the type of facial pain, which is of fundamental importance in the diagnosis and subsequent treatment of facial pain

HEREDITARY MOTOR AND SENSORY NEUROPATHY: MODERN VIEW (LITERATURE REVIEW)

Hereditary motor and sensory neuropathies (HMSN) is a large group of clinically and genetically heterogeneous diseases of the peripheral nervous system, the prevalence of which is 1: 3000 people. Currently, more than 50 loci are known and more than 30 genes responsible for the development of HMSN have been discovered. Presented modern classification of HMSN. The article discusses the modern methods of diagnosis of hereditary motor-sensory neuropathies (HMSN). Thus, to date, the issues of the sequence of molecular genetic examination of patients with HMSN are particularly relevant