bluuebunny/crossref_metadata_2025_split huggingface dataset:
The de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Turkish casein a case
Authors: BARIŞ Savaş , CAN Ender 
Published: January 2025

Abstract

Background
Hereditary spastic paraplegias (HSPs) are a group of clinically and genetically distinct neurodegenerative diseases characterized by progressive stiffness and lower limb paralysis. There are currently up to 79 loci [spastic paraplegia [SPG]] known to exist. A family with early childhood-onset HSP was reported due to a homozygous mutation in KIF1A (Kinesin family member 1A) in 2011. KIF1A, located on the long arm of chromosome 2 [2q37.3], is the cause of its regulated sensory and autonomic neuropathy type 2 [HSAN2]. A heterozygous KIF1A mutation has also been implicated in nonsyndromal intellectual disability [mental retardation, autosomal dominant 9:MRD9].
Case presentation
Here, we describe a boy who was 13 years old who had minor mental impairment, epileptic seizures as he grew older, hypotonia in infancy, and finally, spastic paraplegia [autosomal dominant inheritance]. Exome analysis detected a de nova heterozygous KIF1A mutation [c.1031c > t p.thr344met] in this male.
Conclusions
The alteration identified by the patient's exome study substitutes neutral and non-polar methionine for neutral and polar threonine at the 344th codon of the KIF1A protein [p.Thr344Met]. According to the literature searches, it was observed that the variant was present in at least one individual. We believe that this change in the motor region of the gene causes spastic paraplegia and mental retardation in individuals with clinical features of autosomal dominant KIF1A-related conditions and also causes previously unidentified epileptic attacks. The conformational change in the protein structure [structural, mechanical] disrupts the protein's function. Therefore, we consider it a pathogenic variant.
COVID-Related Mental Health and Smoking in Sexual Minority Women
Authors: Branstetter Steven A 
Published: January 2025

Sexual minority women face a range of health disparities, including high rates of mental health issues, alcohol and tobacco use, obesity, stroke, and general poorer health compared to heterosexual women. The minority stress model describes how members of a minority group, including sexual minorities, face unique stressors related to a stigmatized social status. Research has shown that sexual minorities who face increased discrimination, as described in the minority stress model, tend to have increased smoking rates. The present study sought to examine how increased mental health-related stress associated with the COVID-19 pandemic impacted the smoking behaviors of sexual minority women. Data from the 2021 National Survey on Drug Use and Health were used to build OLS regression and mediation models determining how female sexual minority status moderated the relation between COVID-19-related impacts on mental health and smoking. Results found that sexual minority women with the highest levels of negative impacts on mental health as a result of COVID-19 smoked the fewest cigarettes as compared to heterosexual women. The finding that high levels of mental health distress are related to a reduction in smoking among sexual minority women warrants further research to examine if this effect is COVID-19-specific, or a more generalized pattern of stress and mental health impacts on smoking behavior.
The principle of justice in the jurisdictional process: some problems in law enforcement
Authors: Belyaev V. P. , Belyaeva G. S. 
Published: January 2025

Relevance. General theoretical study of the principle of justice in the legal process is relevant in light of the ever-increasing demand of our civil society for justice in general and in connection with its undeniable significance in legal proceedings - jurisdictional process. Study of the principle of justice from the standpoint of the general theory of law as a basic science enables branch sciences, such as criminal, civil, arbitration, administrative processes, to obtain the necessary information about the role and significance for them of the essence and content of the principle of justice as one of the basic principles in the system of procedural principles of modern jurisprudence. The purpose of this study is to attempt to show, based on the essence of justice as such, its determinacy of other principles of the legal process in general and its type - jurisdictional process, as well as individual problems in law enforcement in relation to this principle.Objectives. To disclose the idea of this article, the following objectives were set and solved: to define the concept of jurisdictional process; to correlate the principles of law and legal principles, as well as the principle of justice with other principles; to identify some problems in the legislative consolidation of the principle of justice in the jurisdictional process.Methodology. The methodological basis of the study includes general scientific techniques and methods of scientific knowledge, as well as special and specific scientific methods - formal-legal and interpretive.Results. This study allows us to determine the role and significance of the principle of justice in the jurisdictional process in relation to other procedural principles and to note some gaps (indifference) in the legislation.Conclusion. Given the unconditional significance of the principle of justice in the jurisdictional process, it is necessary to legislatively consolidate it in such procedural codes as the Criminal Procedure Code of the Russian Federation, the Civil Procedure Code of the Russian Federation and the Arbitration Procedure Code of the Russian Federation.
To the discussion on the return of the protocol form of pre-trial preparation of materials
Authors: Ryapolova Y. P. 
Published: January 2025

Relevance. The article presents a retrospective view of the specifics of the application of pre-trial preparation of materials in protocol form in the context of a long-term discussion about the advisability of its reintroduction as an independent accelerated procedure for investigating minor crimes with an uncomplicated composition, an attempt is made to answer the pressing questions of whether the institution of protocol form of pre-trial proceedings is in demand now and what guidelines should be followed when preparing a regulatory framework for its recreation in modern conditions.Purposes: to study the peculiarities of legislative regulation of the protocol form of pre-trial preparation of materials in a criminal case, to formulate mandatory conditions for the reintroduction of this institution into the system of domestic pre-trial proceedings.Objectives: analysis of legislative regulation and practice of applying pre-trial preparation of case materials; comparative analysis of author's approaches justifying the feasibility of reintroducing the protocol form of pre-trial investigation; determination of the preferred vector of development of legislation in the field of consolidation of accelerated procedures for investigating crimes of minor gravity committed in the conditions of evidence.Methodology. When writing the article, the method of legal modeling, as well as formal-logical, statistical, historical-legal, systemic and other methods were used.The results of the study contain theoretical provisions justifying the need to modernize the existing procedure for expedited proceedings in cases of minor and obvious crimes, taking into account the experience of using the protocol form of preparing materials in the Soviet period.Conclusion. The results of the study made it possible to identify the advantages and disadvantages of the protocol form of preparation of materials in comparison with the modern form of accelerated pre-trial investigation - inquiry in an abbreviated form ‒ and also to formulate general requirements for the development of a legal basis for recreating the proposed accelerated procedure for investigating uncomplicated and minor crimes.
Legal gaps and threats to public safety from free circulation of deactivated weapons using digital technologies: ways to improve criminal legislation
Authors: Zhilkin M. G. , Popov A. Y. 
Published: January 2025

Relevance. Current weapons legislation of the Russian Federation does not take into account the impact of rapidly developing digital technologies on illegal arms trafficking. Deactivated weapons are freely sold on the Internet without the need for licensing, which creates legal gaps. Combined with the availability of information on weapon conversion and the availability of specialized components, these weapons can be easily modified to fire live ammunition, posing a serious threat to public safety.Purpose: to study is to study the public danger of free circulation of deactivated weapons using digital technologies, as well as to develop proposals for improving criminal and other legislation to increase the effectiveness of combating crime in this area.Objectives: include the analysis of legal gaps in the legislation regulating the circulation of deactivated weapons, the study of relevant judicial practice, the assessment of the impact of digital technologies on the distribution of deactivated weapons through Internet platforms and the availability of information on their modification, as well as the development of proposals for improving legislation and the differentiation of criminal liability.Methodology. The research is based on general scientific methods of analysis and synthesis, as well as formal-logical, formal-legal and methods of interpretation of legal norms.The results of the study show that the free circulation of deactivated weapons via the Internet creates conditions for their illegal modification and use for criminal purposes, which is confirmed by the analysis of judicial practice.Conclusions. The authors propose to tighten the legislation on the circulation of deactivated weapons by introducing mandatory licensing, strengthening control over their sale and circulation through digital platforms, and clarifying the differentiation of criminal liability for the illegal circulation and modification of weapons.
The activities of Chinese private security companies as a tool for expanding China’s geopolitical influence
Authors: Bukreeva T. N. 
Published: January 2025

Relevance. The collapse of the bipolar world and the building of international relations in conditions of increasing turbulence have led to the intensification of the use of private paramilitary forces by both states and economic entities to protect their business interests and follow geopolitical priorities. China, being one of the key actors in global economic relations, has been increasing its presence abroad since 2010 by expanding the geography of private security companies.The purpose of the paper is to study the development of the activities of private security companies in China as a tool for expanding geopolitical influence.The objectives are to systematize the features and activities of PSCs; review Chinese national legislation regarding private security companies; study the market for private security services in China; analyze the activities of Chinese PSCs abroad.Methodology. The study has used applied and general scientific research methods, including systemic and comparative analysis, as well as synthesis of information on the topic of the work.Results. The study has examined the reasons for the development of the market for private military and security services, highlighted the main advantages and disadvantages of PSCs, investigated the dynamics of the formation of Chinese PSCs, analyzed the geography of the activities of Chinese PSCs in foreign markets.Conclusion. Given the transformation of the system for ensuring international stability, the states’ demand for private security services has increased significantly. China is armed with a national market for private security companies, some of which operate in foreign markets. The geography of the activities of Chinese PSCs coincides with the geopolitical interests of the PRC and the regions where major investment projects are being implemented.
The memorial function of law on the example of international humanitarian law
Authors: Sitnikov K. A. 
Published: January 2025

Relevance. The theory of the functions of law at the present stage of the development of domestic jurisprudence occupies one of the leading places in the general theory of law. Despite the sufficient elaboration of the relevant section, the gradual transformations of public relations, the increment of new knowledge in related fields of knowledge require further scientific research. Thus, in accordance with the author's concepts, one of the significant places in the system of social functions of law is occupied by the memorial function. The presented problems deserve special attention in the context of international law, the connection of which with memory is the most distinct. The purpose of the study is to assess the importance of the memorial function of law in the system of other functions on the example of international humanitarian law.Objectives: to study the genesis and evolution of international humanitarian law; to identify the relationship between memory and the essence of law (using the example of international humanitarian law); to study the manifestations of the memorial function in the content of international humanitarian law.Methodology. The methodological basis of the research was the principles of scientific, systematic and historicism. The work uses dialectical-materialistic, historical-legal and formal-legal methods, as well as the method of content analysis.Results. Using the example of international humanitarian law, the article reveals the fundamental foundations of the idea of the memorial function of law. The author analyzes the relationship of memory with the nature, essence and content of international humanitarian law. As examples demonstrating the expression of the memorial function in international humanitarian law, the norms of customary and contractual (Hague and Geneva law) are given.Conclusions. The paper substantiates the conclusion that the formation of the relevant international legal branch was due to the accumulation in the memory of the international community of evidence of the horrors and losses that the war entails. It is noted that the essence of international humanitarian law is related to the protection of the most significant values for the international community, the need for special attention to which has been formed in social memory on the basis of accumulated experience in warfare.
About the regional stage in the biography of the first deputy minister of railways of the USSR N.A. Gundobin
Authors: Korovin R. V. , Manzhosov A. N. 
Published: January 2025

Relevance. The role of railway transport in modern conditions is increasing due to the intensification of economic and geopolitical processes that require constant mobility of human and material resources. In this regard, the experience of the functioning of Soviet railways is becoming in demand not only by production workers, but also by representatives of humanitarian knowledge. Any modernization of production technologies is impossible without the active and creative participation of a labor person in it. Therefore, the study of the human factor in Russian history continues to be updated. The use of newly identified sources of personal origin in the study allows us to reveal previously unknown aspects of the life of historical personalities, which is especially important in creating full-fledged portraits of statesmen who made a significant contribution to the development of the country, among which N.A. Gundobin should be included.The purpose of the study is to comprehensively examine, on the basis of newly identified historical sources, the initial stage of the biography of the former First Deputy Minister of Railways of the USSR N.A. Gundobin.Objectives: to reveal the specifics of the functioning of railway transport in the period under review; to characterize the main factors of N.A. Gundobin's personal and professional development.Methodology. The principles of objectivity and historicism were used as the methodological basis of the work. To solve the tasks set, the authors used historical-genetic, historical-systemic, biographical, and retrospective methods.Results. The study and generalization of archival and memoir sources allowed us to reconstruct the events of the initial stage of personal formation and professional activity of one of the outstanding organizers of railway transport in the USSR, N.A. Gundobin.Conclusions. Family traditions and the passage of all stages of career growth from ordinary transport professions with a responsible attitude to the assigned task allowed N.A. Gundobin to hold a high leadership position in the Ministry of Internal Affairs of the USSR for almost 30 years, which testifies to the exceptional organizational abilities and hard work of a person who for so long ensured the functioning of an industry strategically important for the country.
The changes in the public legal status of magistrates and state policy towards citizens in 1725-1762
Authors: Еfremova I. S. 
Published: January 2025

Relevance. The article examines the process of changing the public legal status of city magistrates through the prism of transformations in the fields of trade and urban self-government. Since 1995, a program of state support for local self-government has been implemented in Russia. Government assistance measures for small and mediu-sized businesses are developed annually. In this regard, a retrospective analysis of the experience of the functioning of magistrates, who carried out both urban management and economic and legal protection of the trade and craft population, will improve the quality of reforms at the present stage.The purpose. To consider how the public legal status of magistrates has changed depending on state policy towards the urban populationObjectives: to analyze the main directions of the socio-economic policy of the state; to study how the competencies of magistrates and their subordination have changed depending on the existence of the Chief MagistrateMethodology. The research is based on the principles of objectivity and historicism. The scientific tools of the work consisted of the following methods of historical cognition: problem-chronological, historical-comparative, historical-genetic, historical-systemic.Results. Magistrates, established in 1720, had a wide range of competencies and were of a state nature. Along with judicial and fiscal powers, they were endowed with many administrative functions. From February 1720 to August 18, 1727, the magistrate system represented an independent structure controlled by the Chief Magistrate. From August 1727 to May 5, 1743, due to the deprivation of the Chief Magistrate of the collegium status, magistrates began to obey the voivodes and governors, which did not affect their versatility. From May 1743 to June 1762, they were again subordinate to the Chief Magistrate.Conclusion. Despite the temporary abolition of the Chief Magistrate and the subordination of magistrates to voivodes and governors, these institutions continued to combine judicial, administrative and fiscal powers.
On the question of the characterization of the traditional values of the Russian state
Authors: Zarubina K. A. 
Published: January 2025

Relevance. Currently, the Russian state is in search of a positive model for building a sovereign state capable of countering global threats and challenges of our time, a special order of the world order that allows different countries to freely coexist and develop regardless of their size of territory, geographical location, military, demographic and resource potentials, political and socio-economic structure. In these conditions, it is particularly relevant to comprehend the existing political and legal experience of building Russian statehood and the establishment of a unified ideology based on traditional values.The purpose of the study is to identify and analyze the constant constants that make up the traditional values of the Russian state.Objectives: to identify the traditional values inherent in the national statehood; to give a general description of the identified traditional Russian values; to assess the possibility of applying traditional values of Russia to build a modern model of Russian statehood.Methodology. The research used such methods of scientific cognition as historical, comparative methods, method of analysis, synthesis, generalization, systematization.Results. The study found that in Russia such semantic constants as traditionalism, patriarchy, community, conciliarity and some others, reflected in modern domestic legal doctrine, were formulated as traditional values of Russian society and the state.Conclusion. It has been established that the values of Russian statehood formed over the centuries can now become the basis for building an integral concept of the development of the modern Russian state, strengthening traditional Russian spiritual and moral constants, preserving the historical and cultural heritage of the multinational people of Russia, as well as for the formation of a stable and just world order, a multipolar system of international relations.
Definitive basis for the constitutional protection of passive electoral rights in the Russian Federation
Authors: Melnikov P. A. 
Published: January 2025

Relevance. The study of issues of protection of fundamental rights and freedoms of man and citizen since the birth of Russian constitutionalism and to this day is one of the key areas in legal science. The essence of constitutional protection of passive electoral rights in Russia belongs to the little-studied aspects of domestic constitutional law. In no small measure, a certain impetus for the present study was the tendentious scale of the loss of the status of candidates during the election campaign of 2021 for the election of deputies to the State Duma of the Federal Assembly of the Russian Federation.The purpose of the study is to update theoretical and practical approaches to the protection of passive electoral rights of Russian citizens, to conceptually clarify the definitive series that collectively affect the effectiveness of constitutional and legal protection of the declared subjective rights.Objectives: to analyze the conceptual foundations and structural components of constitutional protection in general and passive electoral rights in particular, taking into account the provisions of the general theory of law and branch science, legislation, interpretation of constitutional justice bodies.Methodology. Study was based on the dialectical method of cognition, as well as such general scientific and special research methods as: analysis and synthesis, induction and deduction, statistical, formal-logical and comparative-legal methods.The results of the study allowed to form the conceptual basis of the constitutional protection of passive electoral rights in Russia in the paradigm of constitutional and branch science, namely: to present the author's conclusions and generalisations about the interpretation of passive electoral rights of Russian citizens; their constitutional protection; functional orientation of its mechanism.Conclusion. The constitutional protection of passive electoral rights of Russian citizens is a law-supporting mechanism determined by constitutional provisions to prevent violations and eliminate obstacles in the implementation of the constitutional right of citizens to be elected to public authorities.