bluuebunny/crossref_metadata_2025 huggingface dataset:
COVID-19 pandemic. New challenge for constitutional relations
Authors: Lungu Evgeniya V.
Published: November 2020

The subject. Current constitutional legal relations are considered in the context of the objective legal reality of the COVID-19 pandemic. The purpose of the article is confirmation or confutation of the hypothesis that COVID-19 pandemic impacts on the development of constitutional relations. The methodology. The author uses the method of comparative legal analysis legal measures aiming the minimization of pandemic’s impact on society and formal legal analysis of legislative acts. The main results of the research. It is alleged that the COVID-19 pandemic had a significant impact on the state of constitutional legal relations and revealed the most acute social and economic problems in all areas of public life. The development of constitutional legal relations in a pandemic will lead, firstly, to a new correlation of collective and individual human rights. As a result of a pandemic, constitutional legal relations in the healthcare sector will move from the category of individual right to life and health to the category of public interest. When the health of an individual citizen is a guarantee of economic and public safety. Secondly, the development of the institution of self-limitation of constitutional human rights. From the position of law, self-restriction of rights allows: to ensure personal and public safety of citizens; avoid introducing restrictions on constitutional rights and freedoms; eliminate redundancy of human rights restrictions. Self-limitation of constitutional human rights is considered as conscious voluntary abstinence from the exercise of constitutional rights on the recommendation of public authorities in an emergency or other conditions close to them (high alert, self-isolation) in order to ensure public and personal safety. Self-limitation of constitutional human rights allows us to observe the constitutional balance of personal and public interests. Thirdly, the experience of combating a pandemic has shown that if the population is able to cope with the consequences of a short-term restriction of their rights on their own, then long-term quarantine measures lead to a significant drop in incomes of the population and must be compensated by the state. Conclusions. The COVID-19 coronavirus pandemic on the one hand triggered a new stage of constitutional legal relations, and on the other hand, like any emergency, exposed the most acute social and economic problems in society. The development of constitutional legal relations in the context of the emerging digital society and the state will not only lead to the development of new principles of constitutional development and, as a result, to constitutional legal relations of a new, digital level, but also affect such areas as the ratio of collective and individual human rights; development of the institution of self-restriction of human rights; further improvement of compensatory constitutional legal relations.
DIVERSITY OF FISH LARVAE AROUND THE ESTUARY OF THE BANYUASIN RIVER, SOUTH SUMATERA PROVINCE
Authors: Ridho Moh. Rasyid , Patriono Enggar , Sarno Sarno , Wirda Sahira
Published: November 2020

The initial phase of the fish life cycle is a critical phase associated with high mortality due to sensitivity to predators, food availability, and also environmental changes that occur in nature. Disruption of the initial stages of fish life has a negative impact on fish populations. Until now there has been no information about fish larvae around the Banyuasin River Estuary. Therefore, research is needed on the diversity of fish larvae around the Banyuasin River Estuary, South Sumatra Province. This research were used purposive sampling method, sampling technique in the form of Cruise Track Design with continuous parallel survey trajectory. Based on the results of the study found as many as 10 families consisting of 1483 individuals of fish larvae in March and 1013 individuals of fish larvae in May consisting of Engraulidae 1,601 individuals of fish larvae, Mungiloidei as many as 109 individuals, Leiognathidae 50 individuals, Chanidae 453 individuals, Scatophagidae 20 individuals , Belonidae 39 individuals, Gobioididae 5 individuals, Chandidae 183 individuals, Syngnatihidae 6 individuals, and Gobiidae 30 individuals fish larvae. The index value of fish larvae diversity is classified as medium category (March 1.02 and May 1.12), Morisita index shows the distribution pattern of fish larvae classified as a group (March 0-14.17 and May 2.43-10.40 ), and the evenness index value is in the medium category (March 0.437 and May 0.521).
A halál lovasának látogatásai járványok alakjában Magyarországon
Authors: Bruckner Éva
Published: November 2020

Magyarország az évezredek során többnyire más népek hadseregének átjáróháza és hódítások célpontja volt, amelynek következtében egyszerre pusztított az apokalipszis négy lovasa: a Hódítás, a Háború, az Éhínség és a Halál. Közülük a Halál a „pokol követe”, s akár betegségek és járványok segítségével, mindennek a befejezője. A tanulmány röviden áttekinti a századok folyamán hazánkban regionálisan taroló fertőző betegségeket, majd részletesen rátér az ország egészét megcélzókra: a pestisre, a kolerára és a spanyolnáthára. Eddig fel nem tárt dokumentumok segítségével többek között olyan érdekes történetekre derít fényt, mint például miként segítette a pestis Pestet a fővárossá válás útjára, valamint hogy a 20. század elején a Tátra egyedülálló klímájára támaszkodva mely magyar orvosok gyógyították sikeresen a tbc-t. A 19–20. század fordulójára a kolera a közegészségügy és a higiénia területén hozott máig ható fejlődést. A 21. században ránk tört koronavírust a jelenlegi társadalmunkra gyakorolt hatása szempontjából veszi szemügyre.
Zöldkötvények kibocsátásának egyes kérdései, a környezeti célokkal összefüggésben
Authors: Sági Judit
Published: November 2020

A zöldkötvények a pénzügyi piacok egyik innovatív termékét képviselik; kibocsátásuk pénzügyi megtérülést eredeztet, ugyanakkor pozitív hatással vannak a környezetre és a társadalomra. Globális szinten a zöldkötvény-kibocsátás évente rekordokat dönt, újabb és újabb szereplők csatlakoznak erre a sajátos piacra. Kibocsátásuk és a megvalósuló projektek mérhető hasznait független hitelesítő intézmények tanúsítják. A szerző azt vizsgálja a szakirodalom alapján, hogy a pénzügyi piacok milyen környezeti célok mentén allokálnak forrásokat a környezetvédelmi hasznokkal járó beruházásokra. A zöldkötvények tipizálását a környezetvédelmi és fenntarthatósági célok, a megtérülés forrása, valamint a kibocsátó személye alapján mutatja be. A szerző következtetése a közelmúlt zöldkötvény-kibocsátási volumenei alapján az, hogy a környezeti célok között a klímaváltozás hatásainak kezelése az elsődleges, ezt követően a szennyezőanyag-kibocsátás megelőzése és ellenőrzése, valamint a természeti erőforrások megőrzése kap prioritást.
A marketinginnovációk szerepe a termál- és gyógyfürdők (spa) szektorában
Authors: Keller Veronika , Printz-Markó Erzsébet
Published: November 2020

Napjaink egyik legdinamikusabban fejlődő turisztikai ágazata az egészségturizmus, ahol az innovációnak egyre nagyobb jelentősége van. Kutatómunkánk középpontjában az egészségturizmus wellness- és rekreációs szolgáltatásokhoz kapcsolódó része áll. Egy online kvantitatív kutatás keretében vizsgáltuk a wellness-szolgáltatásokat igénybe vevők innovativitását. A faktorelemzés eredménye alapján az innovativitásnak három területét azonosítottuk: a marketingújításokra való fogékonyságot, az újdonságokra való fogékonyságot és az árinnovációkat. Általánosságban elmondható, hogy a fürdővendégek kevésbé innovatívak, különösen igaz ez az idősebb (55 év feletti) vendégekre és az idősebb egyedülállókra. A fiatalok és a kisgyerekes családok, illetve a középkorú párok számára fontos az innováció, a szolgáltatás kiválasztásakor döntő szempont lehet számukra akár a termék vagy szolgáltatás területén nyújtott újítások, vagy a digitális innovációk. Az árak kétségkívül jelentős vonzerővel bírnak. A hazai fürdők törekedhetnének az ár típusú promóciók változatos alkalmazására, amennyiben versenyelőnyre kívánnak szert tenni az egészségturizmus piacán.
Piae Causae Foundations, Waqfs, Trusts. Legal- Historical Interactions
Authors: Falus Orsolya
Published: November 2020

The word “charity” originates from Old English and means “Christian love of one’s fellows.” The most popular Abrahamic religions all created their own forms of charity, which, however, resemble each other. The spirit of giving, whether of time, money or resources, becomes a focal point of activity during their holiday seasons. The paper aims to present the similarities, differences and potential legal and historical interactions between the Christian piae causae foundations, the Hebrew heqdesh and the Islamic waqf, on the one hand, and the specific Anglo-Saxon trust, on the other. The study also commemorates the Institute of Islamic Research, which operated successfully at the University of Kaposvár between 2013 and 2018.
A New Approach in Rural Development in Vietnam: Evaluation of the National Target Programme for Building New Rural Areas, 2011–2015
Authors: Nguyen Thi Thu Thuy , Vasa László
Published: November 2020

This paper is a summary of the scientific research project entitled “Building New Rural Areas and Its Impacts on Sustainable Rural Development in Vietnam”. Besides using a methodology based on quantitative and qualitative datasets, we gathered the literature review of rural development studies and practical frameworks of rural development programmes (RDPs). We made statistical analyses for the National Target Programme for Building New Rural Areas between 2011 and 2015 in Vietnam by an on-site empirical survey in a community in Vietnam. Our conclusion is that RDPs should specify the difficulties for each rural area in the process of decision-making for development planning, and should frequently classify difficulties during implementation for the decentralized administration of implementation from central offices to local authorities in order to set up priorities for each rural area.
FOLKLOR PENINGGALAN-PENINGGALAN PUTRI HIJAU DI DESA SEBERAYA, KARO
Authors: Sinaga Elwyn Bastian , Sembiring Hariati br
Published: November 2020

Gua Putri Hijau di Seberaya, kecamatan Tiga Panah, Kabupaten Karo adalah tempat kelahiran Putri Hijau. Putri Hijau memiliki dua orang saudara, yaitu Nini Naga dan Nini Meriam. Peninggalan Putri Hijau yang ada di Desa Siberaya sebagai bukti sejarah yang diyakini masyarakat mengandung nilai sejarah. Nilai tersebut sangat berhubungan dengan  kehidupan masayarakat Seberaya. Penelitian ini bertujuan mengetahui dan mendeskrpsikan peningalan-peningalan Putri Hijau yang masih ada saat ini di Desa Seberaya, Kabupaten Karo serta mengetahui pandangan masyarakat Seberaya terhadap peingalan-peniggalan tersebut. Metode yang digunakan dalam penelitian ini adalah metode kualitatif deskriptif. Metode ini diguakan untuk melukiskan keadaan objek peninggalan berdasarkan fakta-fakta yang ada. Data penelitian ini diproleh dari hasil observasi dan wawancara kepada tiga informan. Observasi dilakukan dengan mengujungi lokasi keberadaan objek. Wawancara dilakukan kepada informan-informan yang mengetahui cerita Putri Hijau. Berdasarkan hasil penelitian diketahui ada tiga peninggalan yang masih ada, yakni Permandian Putri Hijau, Gua Putri Hijau, dan tempat Permainan Putri Hijau.
Adaptarea Poppleton Allen Sales Aptitude Test (PASAT2000) în România: Implicaţii privind procesul de evaluare a forţei de vânzări în România
Authors: Țânculescu Lavinia , Vercellino Daniela , Iliescu Dragoș
Published: November 2020

The paper discusses the cultural adaptation of the Poppleton Allen Sales Aptitude Test inRomania, describing the translation and adaptation process, the structure of the Romaniannormative sample and the psychometric characteristics of the Romanian form of the measure.Also, conclusions drawn are discussed regarding implications of the normative sample, in termsof comparisons between certain criterion groups contained in the normative sample, as well as interms of comparisons of the Romanian data regarding the existence of sales aptitudes in bothsales and non-sales professionals, in different industries.
INFIRMITAS SEXUS, ANIMI LEVITAS: A PUNIÇÃO DAS MULHERES NA VIGÊNCIA DAS ORDENAÇÕES FILIPINAS
Authors: Alves Sílvia
Published: November 2020

Este artigo descreve as especificidades da punição das mulheres durante a vigência das Ordenações Filipinas. O direito penal do ancien régime, através da lei e da doutrina, consagrou, de forma ampla, o princípio do favor sexus. O fundamento deste aparente tratamento privilegiado (fragilitas, infirmitas) e as concretas soluções de um direito exclusivamente masculino permitem uma reflexão sobre a forma como a natureza constituiu o alibi de um estatuto jurídico diferenciado e sobre a complexidade e as profundas contradições da imagem e do tratamento das mulheres criminosas, então como hoje.
O QUE AS REFLEXÕES ENTRE A PSICANÁLISE E GÊNERO PODEM SUSCITAR NO CAMPO DO DIREITO?
Authors: Scaff Denise
Published: November 2020

Diante das inúmeras questões sobre gênero que se apresentam na atualidade e que envolvem diversas áreas do conhecimento, este artigo expõe reflexões geradas no diálogo entre alguns conceitos da teoria psicanalítica e da teoria de Judith Butler.Partindo do conceito da constituição do sujeito, que só é possível na relação com o outro e o grupo social, interrogamos no campo do Direito as possíveis reverberações destas questões que afetam a psicanálise, em sua prática e nas construções da teoria, no que tange à ordenação das relações sociais. O objetivo é provocar a criação de um espaço entre estes saberes em que possam ser geradas outras interrogações e a produção de conhecimento novo.
FALAS SOBRE GÊNERO E SUA RELAÇÃO COM A MÍDIA
Authors: Lago Cláudia
Published: November 2020

O artigo analisa os discursos sobre gênero nos meios de comunicação, os quais se projetam a partir de uma normatividade binária e discriminatória introjetada na sociedade, bem como seus efeitos atuais.
The Effect of Vacuum Impregnation Pretreatment on Air-Drying Kinetics of Pears
Authors: Uysal Şeyma , Pazır Fikret
Published: November 2020

The aim of this study was to examine the drying kinetics of pears (Pyrus communis L.) with and without vacuum impregnation and under the different temperature by using tray dryer. Vacuum impregnation were applied to the the pears (15 mm thickness, 65 mm outer and 20 mm inner dimensions respectively) with the conditions of 50â° Brix impregnation solution concentration, 225 mbar vacuum pressure and 45 min vacuum time. Drying process was carried out at temperatures of 55, 65 and 75Â°C. Drying time of non-vacuum impregnated pears was determined 640, 500 and 340 min and vacuum impregnated pears was determined 700, 540 and 560 min respectively. Page, Exponential, Henderson and Pabis, Diffusion Approach were examined for testing the drying kinetics. Experimental values are in accordance with the expected values resulted Page and Difussion models of with and without vacuum impregnated pears. Effective diffusion coefficient (Deff) was varying 2.74×10-11 to 7.31×10-11 m2/s. m2/s with respect to the drying temperatures. The activation energy for the non-vacuum impregnated and vacuum impregnated pears was 32.93 kJ / mol and 24.25 kJ / mol, respectively.
Evaluation of hydro-meteorological drought indices for characterizing historical and future droughts and their impact on groundwater
Authors:   Department of Water Resource Engineering, University of Birmingham, Edgbaston St., B152TT, UK, Javadinejad Safieh , Dara Rebwar ,   Department of Water Resource Engineering, University of Birmingham, Edgbaston St., B152TT, UK, Jafary Forough ,   Department of Water Resource Engineering, University of Birmingham, Edgbaston St., B152TT, UK
Published: November 2020

The effect of meteorological and hydrological droughts is very important in arid and semi-arid regions. Analyzing these effects on groundwater supplies plays an important role for water management in those regions. This paper aims to characterize droughts in the Isfahan-Borkhar basin, an arid area of Iran. The observed hydro-climatic data (for the period of 1971-2005) were used for hydro-meteorological projections (for the period of 2006-2040). Meteorological and surface hydrological drought evaluated by Standardized Precipitation Index (SPI), Standardized Runoff Index (SRI), and the effect of hydro-meteorological droughts on groundwater was investigated by Groundwater Resources Index (GRI). Results showed that dry and wet conditions would occur in the region in the initial and subsequent decades, based on the three indices. There was a significant association between SPI, SRI, and GRI at the time scale of 12 months. The SPI estimated using only meteorological variables alone and it is useful for estimating meteorological drought forecasts. However, SRI and GRI can represent hydrological drought that computed using catchment discharge, soil moisture and groundwater level. Results showed a considerable alteration in time of drought outlines across the area and association between the variables of predicted precipitation, temperature and the kind of indices. The projection of all three drought indices indicated drier conditions in the future period (2006-2042). The results provide reasonable management strategy for management of water resources in arid coastal plains.
Pandemics and the development of scientific methods in the history of epidemiology
Authors: Morabia Alfredo
Published: November 2020

The Covid-19 pandemic has made me see the history of epidemiology differently. Pandemics are such impressive events that they can exert urgent pressure to identify new modes of research and new methodologies to replace methods that have failed in the past. Some examples seem to corroborate this idea.
The plagueThere is no doubt that one of the most important events in the history of science occurred in the 17th century when population thinking was discovered. All human and social sciences such as sociology, demography, Darwinian biology, political economy, statistics and epidemiology, have their origin in the discovery that dictates that events in populations can be predictable and have a probability of occurrence. Then the occurrence of events in populations can be quantified, can be compared between populations and can be the source of scientific knowledge. This true revolution in scientific thought is a consequence of changes in society that occurred due to plague pandemics.Since the great pandemic of the 14th century, outbreaks of plague in Europe caused great confusion in cities and increasingly threatened existing powers. It was the case of the monarchical society of England. In the event of an outbreak of plague in London, the  nobles, the wealthy, and the army left the city, where only the poor remained. The situation became chaotic in London. It was quickly clear that there was a certain chronological regularity in the outbreaks. They started with a small but growing number of deaths in some parishes before spreading throughout the city. In the 16th century the city of London began to collect data on the number and location of pest deaths. The system was improved in the 17th century and extended to all causes of death, making it possible -by the end of the century- to organize orderly outings from London in the event of an outbreak of plague, preventing chaos. These data were printed and placed on the walls of the city. They were called the “Bills of mortality”, death posters. In this process, a temporal series of mortalitydata was established in London over decades.
Prospects for social policy development of Republic of Crimea in system of coordination of social interests at regional level
Authors:   Institute of Economics and Management (structural unit) of the Federal State Autonomous Educational Institution of Higher Education «V. I. Vernadsky Crimean Federal University», Nesterenko E. S. , , Sribnyj V. I. ,   Institute of Economics and Management (structural unit) of the Federal State Autonomous Educational Institution of Higher Education «V. I. Vernadsky Crimean Federal University»
Published: November 2020

In this article, the authors have developed a system of goals for achieving a mechanism for coordinating state social policy and social interests at the regional level. Practical results of interaction of social policy and social interests are defined. Key social problems in the Republic of Crimea are identified. Priority directions for the development of social policy in the region in the short and long term are proposed. It is concluded that for effective social development of the Peninsula, it is necessary to support priority sectors of the economy in a functioning state on the basis of stimulating economic activity of the population and creating a mechanism for social adaptation of society
The problem of youth employment in Omsk region
Authors:   Department of Culture of the Omsk City Administration, Medvedev E. V.
Published: November 2020

In this article, the author analyzes the processes associated with the employment of young professionals in the Omsk region and also highlights the reasons why young people cannot start working. At present, the situation related to the employment of young specialists requires serious changes and interventions, which gives rise to special interest among many scientists and researchers. The relevance of this issue is not in doubt in connection with the strategic objectives set to reduce the outflow of population from the region and increase regional attractiveness. The purpose of the study is to analyze the processes related to youth employment in the Omsk region and offer recommendations for improving the current situation. The results of the research can be used in the practical activities of regional management
Abducens nerve schwannoma of the cavernous sinus: A case report and literature review
Authors: Alhussain Zeyad M. , Alharbi Shatha K. , Farrash Faisal
Published: November 2020

Background:

Schwannomas of the abducens nerve are a rare pathology and are encountered less within the cavernous sinus. We describe a case of sixth cranial nerve schwannoma, in the cavernous sinus.

Case Description:

A 50-year-old lady, presented with 2 years history of double vision and left facial numbness that started 6 months before presentation, found to have hyperintense lobulated mass at the left cavernous sinus extending into Meckel’s cave with bony remodeling on magnetic resonance imaging. She underwent left frontotemporal craniotomy, combined extra-intradural approach, gross total resection. She had a gradual recovery of the sixth cranial nerve function.

Conclusion:

Abducens nerve schwannoma of the cavernous sinus is a rare and challenging tumor. However amenable to surgical intervention with favorable neurological outcome.
Diagnosis and treatment of noncommunicating extradural spinal thoracolumbar arachnoid cyst
Authors: Khan Shahidul Islam , Ahmed Nazmin , Chaurasia Bipin , Ahsan Kamrul
Published: November 2020

Background:

Noncommunicating extradural spinal arachnoid cysts are extremely rare. They are believed to arise from congenital defects in the dura mater and become enlarged as a consequence of increased cerebro-spinal fluid (CSF) pressure within the subarachnoid space. Most retain a communicating pedicle through which the extradural cyst maintains connection with the subarachnoid space, and only rarely does this communication become sealed. The optimal treatment consists of complete surgical removal of the cyst with ligation of the communicating pedicle.

Case Description:

A 29-year-old male presented with a progressive spastic paraparesis of 6 months’ duration. The MRI showed a circumscribed intradural extramedullary cystic lesion located from D11-L2. Notably, peroperatively, the cyst appeared to be entirely extradural, without a communicating intradural pedicle. Further, no CSF leak was observed even after Valsalva maneuvers. Following surgical extirpation of the cyst, the patient sustained an uneventful recovery within 1 postoperative month.

Conclusion:

Noncommunicating extradural arachnoid cysts are extremely rare causes of spinal cord compression and should be fully excised.
PENGEMBANGAN PERANGKAT PEMBELAJARAN MELALUI MODEL PEMBELAJARAN BERBASIS KEARIFAN LOKAL KALIMANTAN SELATAN UNTUK MENINGKATKAN KETERAMPILAN METAKOGNITIF DAN BERPIKIR KRITIS PESERTA DIDIK KONSEP KLASIFIKASI MAKHLUK HIDUP
Authors: Munirah Kultsum , Ramdiah Siti , Prayitno Budi
Published: November 2020

One of the problems in our education world is the weakness of the learning process, which has an impact on metacognitive skills and critical thinking skills of students. One of the contributing factors is that the teacher only provides existing material without any development related to the real world of students. Thus the effort that can be made is that before carrying out the learning process the teacher as an educator must have a learning plan, which is included in the learning tool. Because in a learning device a teacher can design learning methods and materials that are considered innovative when used. One of the innovative learning methods that can build active learning conditions for students is to use a local wisdom-based learning model. The research objective was to determine the validity of learning tools through a learning model based on local wisdom of South Kalimantan to improve metacognitive skills and critical thinking of students in the classification concept of living things. This study develops products in the form of RPP, LKPD and Questions. The development method used refers to 4-D development which has 4 stages, namely define, design, develop and disseminate. The type of data used is qualitative and quantitative data. The instrument used was a validation sheet that was declared valid based on the results of the expert team's assessment. Data analysis techniques were carried out by matching the results of empirical validation from experts with predetermined validity criteria. The results of this study indicate that local wisdom-based learning tools are worth trying out, because the scores obtained from the validation results show validity with a percentage of> 67.19% which is considered valid enough and has no revised information
Analysis of histaminergic system genes expression level in the early symptom stage of Parkinson’s disease
Authors: Семенова Е.И. , Руденок М.М. , Рыболовлев И.Н. , Сломинский П.А. , Шадрина М.И.
Published: November 2020

Целью данной работы было изучение изменений экспрессии генов гистаминергической системы в развитии патологических процессов при болезни Паркинсона (БП) на ранней симптомной стадии. На МФТП-индуцированной модели ранней симптомной стадии БП (мыши-самцы линии C57BL/6 по 10 шт. в контрольной и опытной группах) проанализирована экспрессия 9 генов, имеющих отношение к гистаминергической системе, методом обратной транскрипции и ПЦР в реальном времени (TaqMan). В результате были выявлены изменения на уровне мРНК для ряда генов в тканях мозга мышей, которые могут указывать на вовлеченность гистаминергической системы в патогенез БП на ранней стадии.

The goal of this work was to study changes of histaminergic system genes expression level in the early symptom stage of PD. We were use MPTP mouse model of early symptom stage of PD in this study. Male mice C57BL/6 were used (n=10 in the control and experimental groups). For analysis we were choose nine genes, which associated with histaminergic system. Measuring of expression levels was carried out using reverse transcription reaction and real-time PCR (TaqMan). Changes at the mRNA level for a number of genes in the brain tissues of mice with MPTP-induced PD were founded. Based on these data, it can be suggested that histaminergic system is involve in early stage PD pathogenesis.
Frequency of common genetic forms of frontotemporal dementia in a Russian cohort of patients
Authors: Шпилюкова Ю.А. , Федотова Е.Ю. , Абрамычева Н.Ю. , Иллариошкин С.Н.
Published: November 2020

Впервые в российской популяции на когорте пациентов с клиническим диагнозом ЛВД исследована частота встречаемости мутаций в наиболее частых генах, ассоциированных с данным заболеванием. Наибольшая часто мутирующими являются гены C9orf72 и GRN. Реже всего встречаются мутации в гене MAPT, что возможно связано с неравномерным представительством клинических фенотипов в нашей выборке.

For the first time in the Russian cohort of FTD patients the frequency of mutations in the most common genes associated with this disease was studied. The most frequently mutating are the genes C9orf72 and GRN. Mutations in the MAPT gene are least likely to occur, which is probably due to the uneven representation of clinical phenotypes in our sample.
The role of hypothalamic-pituitaryadrenal axis genes in individual variance of stress sensitivity
Authors: Казанцева А.В. , Давыдова Ю.Д. , Еникеева Р.Ф. , Малых С.Б. , Лобаскова М.М. , Хуснутдинова Э.К.
Published: November 2020

Целью настоящего исследования являлась оценка вклада 10 полиморфных локусов генов глюкокортикоидного (NR3C1) и минералокортикоидного (NR3C2) рецепторов, а также ген-средовых (G×E) взаимодействий в формирование межиндивидуальных различий в индивидуальных психологических свойствах у 1215 психически здоровых индивидов. Множественный регрессионный анализ выявил, что пренатальный уровень солнечной активности оказывал модулирующий эффект на ассоциацию функциональных полиморфных локусов rs56149945 (N363S) с показателями по шкале «настойчивость» (β = 1,21; р = 0,001) и rs41423247 в гене NR3C1 с индивидуальными различиями в уровне эмоциональной неустойчивости (β = -2,72; р = 0,005).

The present study aimed to assess the main effects of ten polymorphisms of glucocorticoid (NR3C1) and mineralocorticoid receptor (NR3C2) genes together with gene-by-environment interactions on individual differences in personality traits in 1215 mentally healthy individuals aged 17-25 years. Multiple linear regression analysis demonstrated that prenatal solar activity level modulated the association of rs56149945 (N363S) with Persistence (β = 1.21; Р = 0.001) and rs41423247 in NR3C1 gene with emotional resistance to stress (β = -2.72; Р = 0.005).
Studying the main effect and the effect of gene-gene interactions in the formation of individual differences in the level of cognitive function
Authors: Еникеева Р.Ф. , Казанцева А.В. , Давыдова Ю.Д. , Малых С.Б. , Хуснутдтнова Э.К.
Published: November 2020

Наличие трудностей при выполнении математических операций, связанных с высокой стрессовой неустойчивостью (так называемая математическая тревожность, МТ), представляет важную проблему для достижения индивидуальной успешности. В данной работе был проведен анализ взаимодействия 23 полиморфных вариантов генов, отвечающих за регуляцию нейромедиаторных систем, рабочей памяти и синаптической пластичности, в детерминацию межиндивидуальных различий в уровне МТ. В результате анализа были получены две оптимальные статистические модели межгенных взаимодействий, ассоциированные с уровнем МТ (СREB1 (rs35349697) x DTNBP1 (rs2619522) и DRD2 (rs6277) x ВDNF (rs6265)).

The difficulties frequently caused by the presence of high stress sensitivity during performing mathematical operations (mathematical anxiety, MA) in a modern high-tech society represent the important problem for both individual success and economic well-being of a society. We analyzed the interaction of 23 polymorphic variants of genes responsible for the regulation of neurotransmitter systems, working memory and synaptic plasticity, in determining inter-individual differences in the level of mathematical anxiety. As a result, we obtained two optimal statistical models of intergenic interactions associated with the level of mathematical anxiety (СREB1 (rs35349697) x DTNBP1 (rs2619522) and DRD2 (rs6277) x ВDNF (rs6265)).
Mitochondrial disorders, MRI of the brain and limb muscles in type 1 myotonic dystrophy
Authors: Бунак М.С. , Котов С.В. , Василенко И.А. , Сидорова О.П. , Бородатая Е.В. , Поляков А.В.
Published: November 2020

При миотонической дистрофии выявлены митохондриальные нарушения, которые могут быть причиной поражения белого вещества головного мозга. При МРТ мышц конечностей у больных выявлено наиболее частое поражение - медиальная головка икроножной мышцы.

In patients with myotonic dystrophy, mitochondrial disorders were detected, which could be the cause of lesions of the white matter of the brain. MRI of limb muscles in patients revealed the most frequent lesion of the medial head of the calf muscle.
Possibilities of molecular-genetic diagnosis of Duchenne/Becker myodystrophy
Authors: Ткачева Н.В. , Сопрунова И.В. , Андросова Н.В. , Синельникова И.А. , Белопасов В.В. , Ракицкая А.В.
Published: November 2020

В статье представлены результаты клинического наблюдения 13 пациентов с прогрессирующей мышечной дистрофией Дюшенна/Беккера, подтвержденной молекулярно-генетическим.

Clinical observation results of 13 patients with progressive Duchene/Becker muscular dystrophy are presented, molecular-genetic method is used in all cases.
More on differential diagnosis of demyelinating and hereditary diseases
Authors: Агафьина А.С. , Рудник А.Ю. , Федяков М.А. , Глотов О.С. , Кашко Т.Н. , Короткова Д.Г. , Буянова Г.В.
Published: November 2020

Демиелинизирующие заболевания являются гетерогенной группой, включающей рассеянный склероз (РС), острый рассеянный энцефаломиелит, оптиконевромиелит (ОНМ), идиопатический поперечный миелит, оптический неврит. Дифференциально-диагностический поиск при демиелинизирующих заболеваниях включает в себя в том числе и наследственные/нейродегенеративные заболевания. Сходство некоторых митохондриальных болезней (МБ) с РС не случайно, поскольку в настоящее время этиопатогенез РС рассматривается не только как аутоиммунная демиелинизация, но и как нейродегенерация, одним из важных патогенетических механизмов которой является митохондриальная дисфункция. В статье проведен краткий анализ пациентов с нарушением зрительных функций и нетипичной для РС клинической картиной. Критерием отбора больных был первичный клинический эпизод, вызванный предположительно воспалительным демиелинизирующим процессом и жалобами на снижение зрительных функций.

Demyelinating diseases are heterogeneous group including multiple sclerosis (MS), acute multiple encephalomyelitis, opticoneuromyelitis (ONM), idiopathic transverse myelitis, optical neuritis. The spectrum of differential diagnostic screening in this rare autoimmune disease is variable, including hereditary/neurodegenerative diseases. The similarity of some mitochondrial diseases (MD) with MS is not accidental, since currently etiopathogenesis of MS is considered not only as autoimmune demyelination, but also as neurodegeneration, one of the important pathogenetic mechanisms of which is mitochondrial dysfunction. The article provides a brief analysis of patients with impaired visual functions and atypical clinical-diagnostic picture for MS. The selection criterion for patients was a primary clinical episode caused by a presumably inflammatory demyelinating process and complaints of decreased visual functions.
Biomarkers of Parkinson’s disease in carriers of mutations in the glucocerebrosidase gene
Authors: Пчелина С.Н. , Николаев М.А. , Копытова А.Э. , Байдакова Г.В. , Сенкевич К.А. , Емельянов А.К. , Усенко Т.С. , Милюхина И.В. , Захарова Е.Ю.
Published: November 2020

Оценка гексозилсфингозина (HexSph), в крови в настоящее время является чувствительным диагностическим тестом развития болезни Гоше. Мы предположили, что оценка данного метаболита может быть эффективна при выявлении развития болезни Паркинсона (БП) у носителей мутаций в гене GBA (GBA-БП). Концентрация HexSph и ферментативная активность GBA была оценена у пациентов с GBA-БП, бессимптомных носителей мутации в гене GBA, пациентов со спорадической БП (сБП) и в контрольной группе в крови, а также в первичной культуре культивируемых макрофагов. Показано, что оценка уровня HexSph в первичной культуре макрофагов позволяет отличить заболевших БП носителей мутаций в гене GBA, от бессимптомных носителей мутаций и может быть рассмотрена как биомаркер развития БП у носителей мутаций в гене GBA.

Assessment of hexosylsphingosine (HexSph) in the blood is currently a sensitive diagnostic test for Gaucher disease. We suggested that the assessment of this metabolite may be effective in detecting the development of Parkinson’s disease (PD) in mutation carriers in the GBA gene (GBA-PD). In the present study HexSph concentration and GBA enzymatic activity were evaluated in patients with GBA-BP, asymptomatic carriers of GBA mutations, patients with sporadic PD (sPD) and the control group in blood, as well as in the primary culture of macrophages. An assessment of HexSph level in the primary macrophage culture makes it possible to distinguish GBA mutation carriers with PD from asymptomatic mutation carriers, and though could be considered as a biomarker of PD development in carriers of GBA mutations.
Clinical and genetic study of neuropsychological disorders in Parkinson’s disease patients
Authors: Ахмадеева Г.Н. , Хидиятова И.М. , Гилязова И.Р. , Байтмеров А.Р. , Магжанов Р.В. , Хуснутдинова Э.К.
Published: November 2020

В проведенном ассоциативном исследовании были определены возможные клинические и генетические маркеры развития таких нейропсихологических нарушений при болезни Паркинсона, как депрессия, деменция и высокая тревожность.

An associative study identified possible clinical and genetic markers for the development of neuropsychological disorders in Parkinson’s disease, such as depression, dementia and high anxiety.
Complex phenotype in cardiomyopathies: clinical and genetic features
Authors: Шестак А.Г. , Букаева А.А. , Благова О.В. , Лутохина Ю.А. , Поляк М.Е. , Дземешкевич С.Л. , Заклязьминская Е.В.
Published: November 2020

Первичные кардиомиопатии (КМП) относятся к прогрессирующим заболеваниям миокарда, характеризующимся разнообразием симптомов и риском внезапной сердечной смерти. Признаки сочетаний КМП (комплексные фенотипы) все чаще диагностируются в клинике. Клиническое и генетическое обследование было выполнено 186 пациентам, у 9 (4,8%) пробандов выполнялись диагностические критерии сразу двух типов КМП. Потенциально патогенные генетические варианты, ассоциированные с развитием исследуемых типов КМП, были обнаружены как в десмосомных, так и в саркомерных генах у 4 из 9 пробандов.

Primary cardiomyopathies (CM) are progressive myocardial disorders characterized by variable symptoms and risk of sudden cardiac death. Combination of signs of different CM types are often diagnosed during clinical survey. Clinical and genetic examinations were performed for 186 patients; in 9 (4.8%) probands the diagnostic criteria of two different types of CM were fulfilled. Potentially pathogenic genetic variants associated with both CM types were found in desmosomal and sarcomeric genes in 4 of 9 our probands.
Contribution of mutations in the TNNT2 gene to the spectrum of genetic causes of DCM in Russian patients
Authors: Букаева А.А. , Заклязьминская Е.В. , Домбровская А.В. , Фролова Ю.В. , Дземешкевич С.Л.
Published: November 2020

Дилатационная кардиомиопатия - тяжелое прогрессирующее заболевание миокарда с широким полиморфизмом генетических причин и клинических проявлений. Мутации в гене TNNT2 ответственны примерно за 6% случаев диагностированной семейной ДКМП. Нами был изучен спектр мутаций в гене TNNT2 у 92 неродственных пробандов с первичной ДКМП. Все клинически релевантные находки оказались сосредоточены в 173 положении белка тропонина Т, при этом наблюдаемый клинический полиморфизм у разных носителей варианта был обусловлен различными дополнительными факторами как наследственной, так и ненаследственной природы.

Dilated cardiomyopathy is a serious progressive myocardial disease with a wide polymorphism of genetic causes and clinical manifestations. Mutations in the TNNT2 gene are responsible for 6% of cases of the diagnosed familial DCM. We studied the mutation spectrum in the TNNT2 gene in 92 unrelated probands with primary DCM. It was found that all clinically significant findings are concentrated at position 173 of the T-troponin protein, thus clinical polymorphism observed between variant carriers is due to various complementary factors of both hereditary and non-hereditary origin.
A study of new molecular genetic markers of sudden cardiac death identified in the analysis of the results of whole-exome sequencing
Authors: Иванова А.А. , Мельникова Е.С. , Гуражева А.А. , Малютина С.К. , Новоселов В.П. , Родина И.А. , Хамович О.В. , Максимов В.Н.
Published: November 2020

Целью исследования является подтверждение ассоциации с внезапной сердечной смертью однонуклеотидных полиморфизмов rs77270326, rs34643859, выявленных в ходе собственного полноэкзомного секвенирования как возможных молекулярно-генетических маркеров внезапной сердечной смерти. В группе внезапной сердечной смерти (n=400, средний возраст умерших 53,2±8,7 года, доля мужчин - 70,9%, женщин - 29,1%) и контрольной группе (n=400, средний возраст 53,1±8,3 года, мужчины - 68,3 %, женщины - 31,7%) проведено генотипирование по выбранным полиморфизмам методом ПЦР-ПДРФ по авторским протоколам. По частотам генотипов и аллелей полиморфизма rs77270326 не найдено статистически значимых различий между группами (p>0,05). В группе женщин в возрасте до 50 лет выявлено статистически значимое уменьшение доли носительниц генотипа ТТ в группе внезапной сердечной смерти (32,3%) по сравнению с контрольной группой (60,0%) (ОШ=0,32, 95%ДИ 0,11-0,91, р=0,04). Таким образом, однонуклеотидный полиморфизм rs77270326 не ассоциирован с внезапной сердечной смертью. Для женщин младше 50 лет генотип ТТ полиморфизма rs34643859 ассоциирован с протективным эффектом в отношении внезапной сердечной смерти.

The aim of the study is to confirm the association with sudden cardiac death of single-nucleotide polymorphisms rs77270326, rs34643859, identified during own whole-exome sequencing as possible molecular genetic markers of sudden cardiac death. In the group of sudden cardiac death (n = 400, the average age of the dead - 53.2 ± 8.7 years, the proportion of men - 70.9%, women - 29.1%) and the control group (n = 400, average age - 53 , 1 ± 8.3 years, men - 68.3%, women - 31.7%) genotyping of the selected polymorphisms was conducted by PCR-RFLP method according to the authors’ protocols. According to the frequencies of genotypes and alleles of rs77270326 polymorphism, no statistically significant differences were found between the groups (p>0.05). A group of women under the age of 50 revealed a statistically significant decrease in the proportion of carriers of the TT genotype in the group of sudden cardiac death (32.3%) compared with the control group (60.0%) (OR = 0.32, 95% CI 0, 11-0.91, p = 0.04). Thus, the rs77270326 is not associated with sudden cardiac death. For women under the age of 50, the TT genotype of rs34643859 polymorphism is associated with a protective effect against sudden cardiac death.
Structural variation of the APOBEC3A-APOBEC3B locus in patients with carotid atherosclerosis comorbid with acute cerebrovascular accidents and diabetes mellitus
Authors: Слепцов А.А. , Назаренко М.С. , Зайцева А.В. , Казанцев А.Н. , Бурков Н.Н. , Барбараш О.Л. , Пузырев В.П.
Published: November 2020

В наших предыдущих работах при исследовании генома пациентов с ишемической болезнью сердца и метаболическим синдромом выявлена делеция (Δ3AB), приводящая к слиянию генов APOBEC3A и APOBEC3B с образованием химерного гена APOBEC3A/3B. Белковые продукты генов APOBEC3A и APOBEC3B участвуют в регуляции липопротеидов низкой плотности (apoB), одного из ключевых факторов атерогенности. Цель исследования - оценить частоту делеции в локусе APOBEC3A-APOBEC3B в отношении риска развития атеросклероза и его осложнений. Выборку для исследования составили пациенты с каротидным атеросклерозом и с разными сочетаниями с острым нарушением мозгового кровообращения (ОНМК) и сахарным диабетом 2 типа (СД2) (n=118), и контрольная группа (n=96). Оценка производилась методом цифровой капельной ПЦР (ddPCR). Выявлено, что гетерозиготная делеция, приводящая к формированию химерного гена APOBEC3А/3B, имеет в целом низкую частоту в исследованных группах (12% в среднем). Различий по частоте аллелей и генотипов между пациентами и контрольной группой не было обнаружено. Однако у пациентов с каротидным атеросклерозом, но без ОНМК и СД2 (n=39) не было выявлено лиц носительства данной CNV. В тоже самое время, частота гетерозиготной делеции (Δ3AB) в остальных группах составила от 11% до 16%. Таким образом, впервые установлена частота делеции Δ3AB и показано, что наибольшая частота делеции Δ3AB наблюдается у больных с каротидным атеросклерозом в сочетании с ОНМК и СД2.

In our previous studies, we found a deletion (Δ3AB) that led to the gene fusion of APOBEC3A and APOBEC3B in patients with coronary heart disease and metabolic syndrome. The protein products of the APOBEC3A and APOBEC3B genes are involved in the regulation of low-density lipoproteins (apoB), which is a key factor of atherogenicity. Aim. Assess the frequency of deletion at the APOBEC3A-APOBEC3B locus in relation to the risk of developing atherosclerosis with comorbidities. Materials and methods. Patients with carotid atherosclerosis and with different comorbidity of acute cerebrovascular accident (ACVA) and type 2 diabetes mellitus (DM) (n = 118), and control group (n = 96). To assess CNV used digital droplet PCR (ddPCR). Results. It was shown that a heterozygous deletion Δ3AB has a low frequency in the studied groups (12% on average). No differences in the frequency of alleles and genotypes between patients and the control group were found. However, in patients with carotid atherosclerosis and without both ACVA and DM (n = 39), no carriers of this CNV were detected. In contrast, the frequency of heterozygous deletion (Δ3AB) in the other patient groups between 11% to 16%. Summary. For the first time, a Δ3AB deletion frequency was found to be 12%. It is suggested that this CNV may increase the risk of ACVA and DM.
Аdipose tissue expression of ABCA1 and ABCG1 transporters genes in obesity, metabolic syndrome and ischemic heart disease
Authors: Мирошникова В.В. , Пантелеева А.А. , Побожева И.А. , Разгильдина Н.Д. , Драчева К.В. , Полякова Е.А. , Марков А.В. , Баженова Е.А. , Бровин Д.Л. , Беляева О.Д. , Беркович О.А. , Назаренко М.С. , Баранова Е.И. , Пузырев В.П. , Пчелина С.Н.
Published: November 2020

Ожирение ассоциировано с повышенным риском развития метаболических нарушений и сердечно-сосудистых заболеваний. В нашем исследовании мы показали, что экспрессия генов транспортеров холестерина ABCA1 и ABCG1 в жировой ткани может играть роль в развитии ожирения, дислипидемии, метаболического синдрома и ишемической болезни сердца (ИБС).

Obesity is linked to increased cardiometabolic risk. Our study shows that cholesterol transporters ABCA1 and ABCG1 gene expression plays a role in development of obesity, dyslipidemia, metabolic syndrome and ischemic heart disease.