A significant contribution to the morbidity and mortality of children is due to hereditary pathology, which is manifested by high mortality. Aim of the research. To study the frequency of occurrence, structure and clinical and laboratory markers of hereditary metabolic diseases in children of the first half of the year with suspicion of this pathology. Materials and methods. A retrospective analysis of case histories (form No. 003/y) and a face-to-face examination of patients directed to blood tests by tandem mass spectrometry, from Surgery Unit No. 2 for Newborns and Premature Babies and from the Unit of Pathology of Newborns, (Ivano-Matryoninskaya City Children’s Clinical Hospital, Irkutsk). Results. In 2019, 21 children with suspected hereditary metabolic diseases were examined using the tandem mass spectrometry method in the above mentioned departments. All of them had at least one of the main clinical criteria for hereditary metabolic diseases: 67 % had hepatomegaly in combination with an increase in the level of liver enzymes, 43 % had a hereditary history and metabolic acidosis, 33 % showed a sudden deterioration after a period of normal development, 24 % had hypoglycemia, and 14 % had an abnormal urine or body odor, in 4.7 % of cases there was an increase in ketone bodies in the blood and (or) urine. All children identified from 3 to 7 additional criteria, which are indications for examination on the hereditary metabolic diseases. The results of the study revealed 5 children with hereditary metabolic diseases namely amino acid metabolism. 90 % of them had a burdened hereditary history, 100 % had a concomitant pathology – hepatitis and cholestatic lesions of the liver, anemia, an open oval window and others. Conclusion. Despite the obvious economic and medical significance of preclinical identification of patients with hereditary metabolic diseases, the screening problem contains many open questions that need to be addressed at all levels of the organization.
Aim. To explore the relationship of physical development and nutrition pattern in primary school-aged children.Materials and methods. 266 children have been examined for three years by means of the continuous sampling method. In order to study nutrition patterns, the questionnaire method was applied to the parents. Physical development was evaluated according to main anthropometric indicators with the identification of somatotype and degree of harmonious development. Morbidity was studied by extracting data from individual development histories.Results. The nutrition of primary schoolers is marked by a prevalence of carbohydrates, while the amount of protein and calcium-containing products is insufficient. The physical development is disharmonious in most cases, due to underweight (82% of children) and excess weight (8%). 24% of children have a postural abnormality, 15% – caries, 3% – endemic goiter, 45% suffer acute respiratory infections more than 4 times a year.Conclusions. Nutrition patterns in primary school-aged children are characterized by unbalanced diet, which contributes to disharmonious development and decreases stamina.
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