Hypophosphatemic rickets: pathogenesis, diagnosis and treatment

Hypophosphatemic rickets (HR) - a group of diseases characterized by the development of ricketic changes in bone tissue due to increased excretion of phosphorus from the body. This form of rickets is the most common among variants of genetically determined forms of disturbances in mineral metabolism. HR is an actual medical and social problem, requiring constant updating of knowledge of both endocrinologists and doctors of other profile. This is due to the fact that the clinical picture of HR has a significant heterogeneity and can manifest as severe deformations of the skeleton, delay in physical development, severe muscle hypotension, frequent fractures, tooth abscesses, which in some cases leads to disability of the patient and, accordingly, reduces the quality of life. Timely diagnosis and adequate therapy of HR is extremely important for preventing the development of severe complications. Currently, more than 10 candidate genes are known, the defects in which lead to the development of congenital forms of GFR. Genetic diagnostics of the HR is of great importance for determining the form of the HR, and for carrying out genetic counseling of families when planning pregnancy

Rare genetic diseases of the bone tissue: the case of a family with osteogenesis imperfecta and X-linked hypophosphataemia

Osteogenesis imperfecta (OI) and X-linked hypophosphataemia (XLH) are rare genetic diseases, which lead to childhood-onset bone fragility, low-trauma fractures and limb deformities. OI occurs as a result of impaired type 1 collagen synthesis at different stages, depending on the type of a genetic mutation, which leads to bone strength impairment. In most cases OI is a disorder with an autosomal dominant inheritance. However, there are also cases of autosomal recessive inheritance. To date, 16 types of OI are distinguished, with type 2 being the most severe due to 100% mortality rate in neonatal and perinatal periods. XLH is characterized by altered bone mineralization due to impaired phosphorus absorption and reabsorption, as a result of mutations in the PHEX gene. The bone tissue softens, and this process is accompanied by deformities in long tubular bones. In this article we describe the family, in which both diseases are presented, despite their rarity. The case is investigated from points of view: the clinicians and the patients perspective

Chemical and biological indicators for evaluation of Arctic soil degradation and its potential to remediation

In recent years, significant efforts have been made to accelerate the economic development of the Arctic zone, leading to intense environmental pollution of this region, accompanied by the significant impact of accumulated environmental damage in the region. The solution to these problems is difficult due to the remoteness of these areas and severe climatic conditions. Therefore, it is important to evaluate the potential for restoration of arctic soils. For this purpose, various indicators are used, including biological ones. In the analyzed arctic soil samples, high concentrations of petroleum hydrocarbons (up to 47,000 mg/kg) and chloride-ions (0.10–0.14 wt %) were established. Microbioassay demonstrated a presence of hydrocarbon-oxidizing microorganisms: Penicillium, Azotobacter chroococcum, Bacillus subtilis, Pseudomonas oleovorans. A low enzymatic activity and specific Arctic climate point out a low self-restoration ability of the soil, demonstrated the need for its remediation. The microbioassay with microbial strains identification and soil remediation methods suitable for the Arctic zone were recommended

Характеристика основных показателей периферической крови у подростков в Томской области

Background. The adolescent period is characterized by the features of growth and development of the organism when the risk of a number of diseases increases under the conditions of hormonal adjustment and under the influence of environmental factors. Objective. Our aim was to determine the reference values of the main values of peripheral blood and the prevalence of anemia in adolescents residing in the territory of the Tomsk region. Methods. We studied the results of medical examination of children aged from 13 to 16 years. To determine the main values of the general blood test (erythrocytes, hemoglobin, leukocytes, erythrocyte sedimentation rate), an automatic hematological analyzer was used. Evaluation of physical development was carried out by standard methods. The analysis of the results was carried out considering the sex, living conditions, weight, height, and body mass index. Results. We analyzed the values of peripheral blood of 7,120 adolescents. Rated values corresponded to the conventional age norms. The hemoglobin level and the number of erythrocytes are associated with the body weight, height, and body mass index of the respondents. Anemia of varying severity was recorded in 618/7,120 (8.7%) adolescents. More often anemia was verified in rural areas (OR 1.52; CI 95% 1.28–1.80) as well as in females (OR 2.62; CI 95% 2.18–3.15). Conclusion. Regional features of peripheral blood values and the prevalence of anemia in adolescents of the Tomsk region have been determined. Подростковый период характеризуется особенностями роста и развития организма, когда в условиях гормональной перестройки под воздействием факторов внешней среды увеличивается риск формирования ряда заболеваний. Цель исследования — определить референсные значения основных показателей периферической крови и распространенность анемии у подростков, проживающих на территории Томской области. Методы. Изучали результаты диспансеризации детей в возрасте от 13 до 16 лет. Для определения основных показателей общего анализа крови (эритроциты, гемоглобин, лейкоциты, скорость оседания эритроцитов) использовался автоматический гематологический анализатор. Оценка физического развития проводилась стандартными методами. Анализ результатов проводили с учетом пола, условий проживания, веса, роста и индекса массы тела. Результаты. Проанализированы показатели периферической крови 7120 подростков. Значения показателей соответствовали условным возрастным нормам. Уровень гемоглобина и количество эритроцитов ассоциированы с массой тела, ростом и индексом массы тела респондентов. Анемия различной степени тяжести была зарегистрирована у 618/7120 (8,7%) под-ростков. Чаще анемию верифицировали у жителей сельских районов (OR 1,52; CI 95% 1,28–1,80), а также у лиц женского пола (OR 2,62; CI 95% 2,18–3,15). Заключение. Установлены региональные особенности показателей периферической крови и степень распространенности анемии у подростков Томской области.

Половое развитие подростков в Томской области

Background. Sexual development of adolescents is one of the important indicators of the population well-being, the study of which, in the context of the world trend towards a change in the period of puberty, can contribute to the identification of public health problems. Objective. Our aim was to study the basic indicators of sexual development of adolescents and to determine the regional characteristics of this population. Methods. The evaluation of secondary sexual characteristics was carried out by specialists according to Tanner criteria. Ultrasound examination of organs of the reproductive system was carried out using a portable scanner Mindray M7. The analysis of the results was carried out taking into account the gender, living conditions, physical development. Results. We examined 7,120 adolescents aged from 13 to 16 years. The degree of axillary hair distribution by Tanner criteria was 2.4±0.7 in young men, 2.9±0.4 — in girls, pubic hair — 2.0±0.9 and 2.6±0.8, respectively. The indicator of development of mammary glands by Tanner criteria in girls was 2.6±0.8, menstrual function by Tanner criteria — 2.4±0.8. Herewith, urban adolescents had later terms of appearance of the secondary sexual characteristics in comparison with the inhabitants of rural areas. Conclusion. We registered the delayed sexual development in 8.1% of girls and 13.6% of young men. Urban youths have experienced a delay in gonadal growth. Among the female population there was an outstripping growth and development of the uterus and ovaries in comparison with rural adolescents. Половое развитие подростков — один из важных показателей благополучия населения, изучение которого в условиях мировой тенденции к изменению сроков наступления пубертатного периода может способствовать выявлению проблем общественного здравоохранения. Цель исследования — изучить основные показатели полового развития подростков и определить региональные особенности данной популяции. Методы. Оценка вторичных половых признаков проводилась врачами-специалистами по критериям Tanner. Ультразвуковое исследование органов репродуктивной системы осуществлялось при помощи переносного сканера Mindray M7. Анализ результатов проводили с учетом пола, условий проживания, физического развития. Результаты. Обследовано 7120 подростков в возрасте от 13 до 16 лет. Степень оволосения подмышечной впадины по критериям Tanner составила у юношей 2,4±0,7, у девушек — 2,9±0,4, степень лобкового оволосения — 2,0±0,9 и 2,6±0,8 соответственно. Показатель развития молочных желез по критериям Tanner у девушек составил 2,6±0,8, менструальная функция по критериям Tanner — 2,4±0,8. При этом у городских подростков выявлены более поздние сроки появления вторичных половых признаков в сравнении с жителями сельских районов. Заключение. У 8,1% девушек и 13,6% юношей зарегистрирована задержка полового развития. У городских юношей выявлена задержка роста гонад; среди женского населения наблюдалось опережение роста и развития матки и яичников в сравнении с сельскими подростками.

Osteogenesis imperfecta in combination with Graves disease

Osteogenesis imperfecta (OI) – is a group of genetically disorders, which are charaterized by a disturbed bone formation. In turn, the excess of thyroid hormones in Graves' disease (GD) also posses a negative effect on bone tissue, thereby aggravating OI. That requires from the endocrinologist the most careful management of patients with the combination of these pathologies. In this article, we present a unique clinical case of a combination of GD and OI

Analysis of Structural Changes in the Protein near the Phosphorylation Site

Modification of the protein after synthesis (PTM) often affects protein function as supported by numerous studies. However, there is no consensus about the degree of structural protein changes after modification. For phosphorylation of serine, threonine, and tyrosine, which is a common PTM in the biology of living organisms, we consider topical issues related to changes in the geometric parameters of a protein (Rg, RMSD, Cα displacement, SASA). The effect of phosphorylation on protein geometry was studied both for the whole protein and at the local level (i.e., in different neighborhoods of the modification site). Heterogeneity in the degree of protein structural changes after phosphorylation was revealed, which allowed for us to isolate a group of proteins having pronounced local structural changes in the neighborhoods of up to 15 amino acid residues from the modification site. This is a comparative study of protein structural changes in neighborhoods of 3–15 amino acid residues from the modified site. Amino acid phosphorylation in proteins with pronounced local changes caused switching from the inactive functional state to the active one

Current Approaches in Supersecondary Structures Investigation

Proteins expressed during the cell cycle determine cell function, topology, and responses to environmental influences. The development and improvement of experimental methods in the field of structural biology provide valuable information about the structure and functions of individual proteins. This work is devoted to the study of supersecondary structures of proteins and determination of their structural motifs, description of experimental methods for their detection, databases, and repositories for storage, as well as methods of molecular dynamics research. The interest in the study of supersecondary structures in proteins is due to their autonomous stability outside the protein globule, which makes it possible to study folding processes, conformational changes in protein isoforms, and aberrant proteins with high productivity

Characteristics of the Main Indicators of Peripheral Blood in Adolescents in the Tomsk Region

Background. The adolescent period is characterized by the features of growth and development of the organism when the risk of a number of diseases increases under the conditions of hormonal adjustment and under the influence of environmental factors. Objective. Our aim was to determine the reference values of the main values of peripheral blood and the prevalence of anemia in adolescents residing in the territory of the Tomsk region. Methods. We studied the results of medical examination of children aged from 13 to 16 years. To determine the main values of the general blood test (erythrocytes, hemoglobin, leukocytes, erythrocyte sedimentation rate), an automatic hematological analyzer was used. Evaluation of physical development was carried out by standard methods. The analysis of the results was carried out considering the sex, living conditions, weight, height, and body mass index. Results. We analyzed the values of peripheral blood of 7,120 adolescents. Rated values corresponded to the conventional age norms. The hemoglobin level and the number of erythrocytes are associated with the body weight, height, and body mass index of the respondents. Anemia of varying severity was recorded in 618/7,120 (8.7%) adolescents. More often anemia was verified in rural areas (OR 1.52; CI 95% 1.28–1.80) as well as in females (OR 2.62; CI 95% 2.18–3.15). Conclusion. Regional features of peripheral blood values and the prevalence of anemia in adolescents of the Tomsk region have been determined

PSSNet—An Accurate Super-Secondary Structure for Protein Segmentation

A super-secondary structure (SSS) is a spatially unique ensemble of secondary structural elements that determine the three-dimensional shape of a protein and its function, rendering SSSs attractive as folding cores. Understanding known types of SSSs is important for developing a deeper understanding of the mechanisms of protein folding. Here, we propose a universal PSSNet machine-learning method for SSS recognition and segmentation. For various types of SSS segmentation, this method uses key characteristics of SSS geometry, including the lengths of secondary structural elements and the distances between them, torsion angles, spatial positions of Cα atoms, and primary sequences. Using four types of SSSs (βαβ-unit, α-hairpin, β-hairpin, αα-corner), we showed that extensive SSS sets could be reliably selected from the Protein Data Bank and AlphaFold 2.0 database of protein structures