The purpose of the study is to determine the significance of genetic factors in the development of chronic nephritic syndrome in children and to clarify the features of the clinical course
The оbject of research were 129 children aged 4-15 years who were treated for chronic nephritis in the nephrology department of the Samarkand Regional Multidisciplinary Paediatric Medical Centre.
The scientific novelty of the study is as follows:it has been established that the severity of chronic nephritic syndrome in children is associated with clinical manifestations (gradual development, dyspepsia, abdominal pain) and an increase in the amount of Cystatin C in the blood;for the first time, it was revealed that the development of sclerotic lesions due to increased proliferation in patients with the presence of the MMP-9 (A-8202G) rs 11697325 genotypes in chronic nephritic syndrome leads to a worsening of the clinical course of the disease; established early diagnostic marker MMP-9 (A-8202G) rs 11697325 and its tissue inhibitor TIMP-2 (C536T) rs 11551797 in chronic nephritic syndrome in children in the diagnosis of the disease; for the first time, the prognostic value of the alleles of the MMP-9 (A-8202G) rs 11697325 genes and the homozygous G/G genotype in determining the risk of developing the disease in children with chronic nephritic syndrome has been proven.
Implementation of the research results. Based on scientific results of evaluation of the role of polymorphic genes of matrix metalloproteinase and its tissue inhibitors in chronic nephritic syndrome in children: methodological recommendation “The role of polymorphic genes of matrix metalloproteinase and its genetic inhibitors in the development of chronic nephritic syndrome in children” was developed and approved (reference of the Ministry of Health of the Republic of Uzbekistan No. 8n-r / 554 of 30.02.2022).
This methodological recommendation made it possible to predict the development of chronic nephritic syndrome in children and improve preventive measures; approved and developed on the basis of scientific results of research on early diagnosis and prognosis of chronic nephritic syndrome “Dynamics of clinical and laboratory parameters in nephritic syndrome in children”, (reference of the Ministry of Health of the Republic of Uzbekistan No. 8n-r / 555 of 30.02.2022).
This methodological recommendation made it possible to optimize the diagnosis and treatment tactics for various forms of nephritic syndrome in children;
The results obtained were implemented in the practice of health care, in particular, in the Republican Children's National Medical Center, in the 1st clinic of the Samarkand State Medical University, in the Samarkand Regional Children's Multidisciplinary Medical Center (conclusion No. 8 n-r/324 of 21.06.2022 of the Ministry of Health of Uzbekistan).
The application of the obtained results to practice has made it possible to reduce the frequency of recurrence of the disease in children, prevent complications of the disease, improve the quality of life of patients, diagnose and prevent the disease.
The structure and scope of the dissertation. The dissertation consists of an introduction, 4 chapters, conclusions, practical recommendations. The volume of the dissertation is 120 pages.
The article presents a clinical case of congenital arteriovenous dysplasia – Parkes Weber syndrome of the lower extremities. The features of its clinical picture and the difficulties of diagnosis are described. It is emphasized that Parkes Weber syndrome is a rare congenital disease of the vascular system, in some cases with the absence of its typical clinical manifestations and combined with other pathologies of the veins.
In order to identify risk factors for the development of irritable bowel syndrome in children depending on the clinical variants of the disease, age, gender, были обследованы the basic group consisted of 56 children suffering from irritable bowel syndrome aged 7-14 years (middle age of 10.0±0,69 years), including 30 girls and 26 boys. The comparison group consisted of 100 patients with diseases of the upper gastrointestinal tract without IBS (the Syndrome of Irritated Bowel). According to the findings of a survey of 56 children aged 7-14 years, it was found that the stream of irritable bowel syndrome in children depends on age, sex and clinical options. The disease is frequently occurres in younger boys (57,4%) and girls (68,1%) of high school age. Pronounced clinical manifestations of the disease marked in children in the senior school age (57,8%) and in patients with clinical variant of irritable bowel syndrome with predominant diarrhea (30,6%).
Obesity has become an epidemic among children and adolescents around the world. To date, of
particular interest is the study of the mechanisms of development of metabolic syndrome, especially
associated with impaired iron metabolism. The simultaneous occurrence of diseases of two different
directions, namely obesity and anemia, cannot be considered a coincidence. Numerous studies have
shown that increased serum ferritin levels are associated with the development of metabolic
syndrome. This article provides an overview of current studies of neuropsychological and autonomic
changes in adolescents as a result of metabolic syndrome affecting the central nervous system, as
well as electroencephalographic and ultrasound Doppler changes, the relationship between
metabolic syndrome and serum ferritin levels. The psychoemotional and mnestic-intellectual
changes that develop as a result of metabolic syndrome in adolescents are widely covered.
The aim of the given work was study interactions of impairments sympa-thetic – adrenal systems functional condition and processes of peroxidal oxida-tion of lipids in woman with metabolic syndrome. 107women at the age of 25-49 were observation. They were randomized into 3 groups: I (control) – 15 healthy persons, II – 43 patients with arterial hypertension, III – 49 women with arterial hypertension in combination with metabolic syndrome. The results of carried investigations showed that activation of sympathetic adrenal system and processes of peroxidal oxidation of lipids took place in metabolic syn-drome. Marked lowering of sympathetic – adrenal system key ferment catechol-amins (MAO monoaminooxidaze) desamidization activity and considerable ac-tivation of peroxidal oxidation of lipid products which have great significance in revealing the mechanism of metabolic syndrome development were observed in metabolic syndrome. This results in the prolonged toxic influence of catechola-mins on myocardium.
Obesity has become an epidemic among children and adolescents around the world. To date, of
particular interest is the study of the mechanisms of development of metabolic syndrome, especially
associated with impaired iron metabolism. The simultaneous occurrence of diseases of two different
directions, namely obesity and anemia, cannot be considered a coincidence. Numerous studies have
shown that increased serum ferritin levels are associated with the development of metabolic
syndrome. This article provides an overview of current studies of neuropsychological and autonomic
changes in adolescents as a result of metabolic syndrome affecting the central nervous system, as
well as electroencephalographic and ultrasound Doppler changes, the relationship between
metabolic syndrome and serum ferritin levels. The psychoemotional and mnestic-intellectual
changes that develop as a result of metabolic syndrome in adolescents are widely covered.
In the monograph, in determining the role of antiphospholipid syndrome in the origin of cerebrovascular diseases in systemic diseases of connective tissue, an algorithm for the diagnosis of antiphospholipid syndrome was developed with the combined use of immunological and clinical-neuroimaging tests for the early diagnosis of antiphospholipid syndrome in patients with neurological manifestations of systemic diseases of connective tissue. It allows early diagnosis of patients, reduction of disease in their treatment and improvement of treatment efficiency. The monograph is intended for neuropathologists and general practitioners, rheumatologists, as well as graduate and clinical residency students.
Asthenia senile syndrome is coded R54 in the International Classification of Diseases (ICD-10). Today, the prevalence of this syndrome among elderly people worldwide is 13%, while the prevalence of "senile preadjustment syndrome" is 50%. With an unfavourable course, without early treatment and rehabilitation, senile prehospital syndrome develops into senile asthenia after 4-5 years. This syndrome is a key concept of modern gerontology.
Down syndrome (DS) (trisomy, trisomy on chromosome 21) - "... this is a genetic abnormality in development and the most common chromosomal anomaly affecting mental development and mental development with a statistical occurrence of 1 in 700-800 newborns" [19,22,42 ]. There is no gender difference in the incidence of DM, it is stated regardless of the ethnic group, race and economic class of the family. The concept of "syndrome" defines the presence of specific signs or traits characteristic of a particular condition, so this pathology is commonly referred to as the term "Down's syndrome" and not "Down's disease" [1,38].