A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case Report

Background: Turner syndrome occurs in nearly one in every 2000-5000 female births. This syndrome is a genetic problem in the female phenotype and the most common sex chromosome anomaly. It is diagnosed based on clinical manifestations and cytogenetic examinations. The classic syndrome (i.e., monosomy X) makes up 50% of the cases while other forms contain X chromosome variants, which do not typically manifest as the classic X phenotype. Case Presentation: This study, presents a rare variant of Turner syndrome reported in a 20-year-old woman presenting with primary amenorrhea, hypothyroidism, and short stature who had hypergonadotropic hypogonadism with hypoplastic ovaries while without the clinical manifestations of the classic Turner syndrome. The karyotype was determined as X isochromosome-X syndrome [46 XXi (Xq)]. Conclusion: This rare syndrome occurs in approximately 7% of the cases of Turner syndrome. Rare variants of the syndrome should also be considered in female patients without the classic manifestations of Turner syndrome.

Subacute Combined Degeneration Associated with Methylenetetrahydrofolate Reductase (MTHFR) C677T Polymorphism

Subacute combined degeneration (SCD) is a metabolic disease caused by deficiency of vitamin B12. Rarely, it could be associated with genetic problem. An old male presented with progressive both hands weakness. Laboratory study showed deficiency of vitamin B12, but the cause was not clear. We performed a genetic study and methylenetetrahydrofolate reductase (MTHFR) C677T homozygous polymorphism with 30% of normal enzyme activity was confirmed. This case suggests SCD may occur in association with a genetic problem with MTHFR C677T polymorphism.

On the History of the Study of Settlements and Housings of the Mordovians

Introduction. The article deals with the history of studying traditional settlements and dwellings. The authors pay attention to the analysis of medieval mentions of Mordovians in the works of European missionaries and oriental travelers. The contribution of domestic and foreign researchers in the study of material and spiritual culture of the Mordovian ethnos is considered. Based on the works of Soviet scientists shows the transformation of some architectural and structural details in the development of settlements, housing and economic buildings of the Mordovian people. Modern tendencies in ethnographic studying of a traditional economic and inhabited complex of constructions of Mordovian people are revealed. Materials and Methods. The research is based on the following methods: comparative-historical, historical-genetic, problem chronological, structural-systemic. Among the general scientific methods of research, logical, descriptive, narrative, generalizations, classifications and systematization were used. Numerous works on the topic of research of domestic and foreign authors were analyzed. Results and Discussion. Interest in the study of traditional settlements, dwellings and outbuildings of Mordovians arose quite long ago. The historiography on this issue can be divided into three periods: pre-revolutionary, Soviet and post-Soviet. If in the sources up to the XVIII century could be found only fragments of information on the topic of interest to us, then with the beginning of the reforms of Peter I interest in the study of peoples who lived in the Russian Empire, increases. The Russian Academy of Sciences organized a number of scientific expeditions for comprehensive analysis of the life activities of the peoples of Russia. P. S. Pallas, I. I. Lepekhin, N. P. Rychkov, I. P. Falk, I. G. Georgi and other researchers of the 18th century made a significant contribution to the study of traditional culture of the peoples of Russia and, in particular, of Mordovia. In the XIX century, with the creation of the Russian Geographical Society in 1845, was published a number of scientific papers, which are quite deeply and in detail considered the features of material and spiritual culture of Mordovians. During the Soviet period ethnographic expeditions became regular. Thanks to this, valuable information on the history and traditional culture of the Mordovian people was collected. Among the Soviet researchers who made a significant contribution to the study of Mordovians settlements and dwellings, we should remember N. P. Makushin, V. N. Belitzer, V. A. Balashov, E. I. Goryunova, P. D. Stepanov, V. F. Vavilin and others. In the post-Soviet period, the problem of studying Mordovians settlements and dwellings is still relevant. For example, a number of scientific works by M. V. Suldinsky were devoted to the study of the semantics of Mordovians peasant dwellings; various aspects of this topic were covered in the works of N. F. Mokshin, G. A. Kornishina, A. S. Luzgin, E. N. Mokshina, V. B. Makhaev, A. I. Merkulov, M. I. Svyatkin and others. Conclusion. Thus, the settlements, dwellings, and farm buildings of Mordovians were the objects of study by many researchers.

Public associations of the Cossacks of modern Russia (early 1990s – early 2020s)

The article is devoted to the consideration of modern Cossack public organizations, the dynamics of their formation, the goals of their activities. The relevance of the topic is that representatives of the Cossack movement live in all regions of the country. They are actively involved in social, political, economic and cultural life. Today in Russia there are two main organizational forms of the Cossack movement - public Cossack organizations, acting on the basis of the Federal Law “On Public Organizations”, and Cossack societies, which are included in the state register for carrying out civil service, they operate on the basis of the Federal Law “On Civil Service Russian Cossacks “. The purpose of the article is to study all-Russian public associations of the Cossacks on the basis of considering their development, formulated goals and objectives. In the course of the study, methodological principles such as historicism and scientific objectivity were used, comparative, historical-genetic, problem-chronological and “oral history” methods were used. In modern Russia, the largest and most authoritative are two public organizations of the Cossacks: the All-Russian public organization “Union of Cossacks” and the All-Russian public organization for the development of the Cossacks “Union of Cossacks-Warriors of Russia and Abroad”. These organizations demand the revival of the Cossacks as a “special nation”, participation in strengthening statehood, socio-political stability and interethnic harmony, participation in the organization of military-patriotic education of youth and educational activities, the development of the economic base of the Cossacks and the promotion of its cultural and historical characteristics.

Prediction of Heart Disease Using Machine Learning

Heart disease is one of the most significant causes of mortality in the world today. Prediction of Heart disease is a critical challenge in the area of clinical data analysis. Machine learning has been shown to be effective in assisting in making decision and predictions from large quantity of data produced by the health industry. Several types of heart diseases are expanding day by day because of way of life, genetic problem, blood pressure, cholesterol level, pulse rate etc. So the diagnose of disease plays important role for the prevention of heart related problems. Researchers received different methods to analyze it. This system aims at Predicting heart disease with various machine learning techniques and increasing the accuracy of the system. Classification approach consists of two algorithms such as KNN classification algorithm and Decision tree algorithm. The result of classification shows 86% accuracy by using n number of neighbors in this approach.

Carpentry in the Economic Activities of the Mordovians

Introduction. The article examines the role and importance of carpentry in the economic activity of the Mordovians. On the basis of pre-revolutionary statistical documents, reports of provincial and district zemstvo committees, the profitability of carpentry was studied. The main reasons for the development of fishing activities in the peasant environment and the places of permanent migrant workers among the Mordovians are identified. The author paid attention to the contribution of domestic and foreign researchers to the study of this topic. Materials and Methods. The research is based on the following methods: comparative-historical, historical-genetic, problem-chronological, structural-system. Of the general scientific research methods, logical, descriptive, narrative, generalization, classification and systematization were used. Traditional methods of ethnographic science were also used, such as polling and interviewing the population. To achieve the results of the study, archival sources, reports of county and provincial statistical committees, data from the All-Russian census of 1897, as well as field research materials collected by the author in Mordovian villages were used. Results. In the second half of the XIX – early XX century, in connection with the active development of commodity-money relations, handicraft industry and various types of otkhodniki, one of which was carpentry, acquired an important role in the economic activity of peasants. Carpentry not only provided the peasant economy financially, but also promoted interethnic dialogue and the enrichment of the traditional material and spiritual culture of the Mordovian people. Thus, the economic activity of the Mordovians is inextricably linked with its ethnic history. Industrialization and industrial development, the introduction of new technologies in the late 19th and early 20th centuries became important factors in increasing labor productivity and increasing the demand for labour. The construction of new industrial facilities and buildings required more people who owned carpentry. Many peasants, in order to find work, went to such large construction sites and sometimes remained to live in these places. Economic factors have become, in many ways, the reasons for the dispersed settlement of the Mordovians. In the pre-revolutionary period, a significant contribution to the study of traditional crafts and occupations was made by P. S. Pallas, I. I. Lepekhin, and others. Among Soviet and modern researchers, it is worth noting V. N. Kuklin, I. I. Firstov, A. S. Luzgin, N. F. Mokshin, G. A. Kornishina, E. N. Mokshina and others. Conclusion. Thus, carpentry was one of the lucrative occupations and was of great importance in the economic activities of the Mordovians.

Clinical genetics

Clinical genetics is an ever-growing encyclopedia of knowledge and new discoveries. This chapter summarizes clinical genetics for the general paediatrician. Included are how to take a genetic history, features pointing towards an underlying genetic problem, when and how to investigate for genetic conditions, the main tests that are used, and an overview of some of the more commonly encountered conditions. A key point to consider is that genetic investigations are fraught with interpretation challenges. If investigations are sent inappropriately or not enough clinical information is given with the request form, then ambiguous results are not uncommon, creating further worry for both patient and clinician. If in doubt, seek expert advice from your local clinical genetics service.

Religious Rites and Holidays of Mordovian-Erzya, Related to Housing and Economic Buildings

Introduction. The article discusses the religious rites and holidays of the Mordovian-Erzya associated with housing and outbuildings. The venue for a large number of them was the house (kudo). Currently, many of these traditions have been lost or transformed under the influence of Christianity. The authors pay attention to the relics of the ordinary culture of the Mordva-Erzya surviving at the present stage. Materials and Methods. The research is based on traditional methods of ethnographic science, such as field observation, questioning and interviews, and an integrated approach. Of the methods of historical science, comparative-historical, historical-genetic, problem-chronological, structural-system were used. Among the general scientific research methods, logical, descriptive-narrative, generalization, classification and systematization were involved. To achieve the results of the study, we mainly used materials collected by the authors during field surveys conducted in Erzya-Mordovian villages. Results and Discussion. In the traditional rituals of the Mordovian-Erzya, housing and outbuildings play an important role. They are not only the venue for many ceremonies and festivals, but also have their divine patrons, so people have endowed many buildings with sacred and magical properties. Structural and architectural details of the home have always tried to decorate. At the same time, the traditional decor bore a sacred and protective meaning. Since ancient times, Mordovian has been in contact with many peoples, which has affected its material and spiritual culture. Currently, many Mordovian-Erzya traditions have transformed, but have not completely disappeared. Co-stored, for example, are some wedding and, especially, funeral and memorial rites. The desire to bury and commemorate relatives according to the rules established in the popular milieu became the reason for the existence and passing on of this ritual to subsequent generations. Conclusion. Basically, the dwelling was the venue for maternity, wedding and funeral ceremonies. Therefore, the Mordovian-Erzya especially appreciated and protected her house (kudo) from evil spirits. On holidays, they sought to decorate the house, and ozks prayers were dedicated to the housekeepers, which often ended in offering them sacrificial food. Currently, many rituals and traditions are forgotten, others exist in a transformed form. However, housing and farm buildings play an important role in the life and culture of the Mordovian people.