scholarly journals Population genetics of spinoсerebellar ataxias caused by polyglutamine expansions

2019 ◽  
Vol 23 (4) ◽  
pp. 473-481
Author(s):  
A. N. Shuvaev ◽  
O. S. Belozor ◽  
M. V. Smolnikova ◽  
D. A. Yakovleva ◽  
Andr. N. Shuvaev ◽  
...  
Keyword(s):  
Population Genetics ◽  
Trinucleotide Repeat ◽  
Qualitative Change ◽  
Neuronal System ◽  
Spinocerebellar Ataxias ◽  
New Methods ◽  
Polyglutamine Expansions ◽  
Hereditary Disorders ◽  
History Of ◽  
Quantitative Indicators

Hereditary disorders of the neuronal system are some of the most important problems of medicine in the XXI century. The most interesting representatives of this group are highly prevalent polyglutamine spinocerebellar ataxias (SCAs). It has a basement for quick progression of expansion among different groups all over the World. These diseases are SCA1, 2, 3, 6, 7 and 17, which phenotypically belong to one group due to similarities in clinics and genetics. The substrate of these genetic conditions is CAG trinucleotide repeat of Ataxin genes which may expand in the course of reproduction. For this reason a characteristic feature of these diseases is not only an increase in patient numbers, but also a qualitative change in the progression of their neurological symptoms. All these aspects are reflected in the structure of the incidence of polyglutamine SCAs, both at the global level and at the level of individual population groups. However, most scientific reports that describe the population genetics of polyglutamine SCAs are limited to quantitative indicators of a specific condition in a certain area, while the history of the occurrence and principles of the distribution of polyglutamine SCAs are poorly understood. This prevents long-term predictions of the dynamics of the disease and development of strategies for controlling the spread of mutations in the populations. In this paper we make a detailed analysis of the polyglutamine SCAs population genetics, both in the whole world and specifically in theRussian Federation. We note that for a better analysis it would be necessary to cover a wider range of populations in Africa, Asia andSouth America, which will be possible with the development of new methods for molecular genetics. Development of new methods of detection of polyglutamine SCAs will allow the scientists to better understand how they lead to the brain disease, the means of their spread in the population and to develop better methods for therapy and prevention of these diseases.

Digging the history. Absolute chronology of the settlement complex at Czermno-Cherven’ (eastern Poland). Research status and perspectives

2020 ◽  
Vol 72 (2) ◽  
Author(s):  
Tomasz Dzieńkowski ◽  
Marcin Wołoszyn ◽  
Iwona Florkiewicz ◽  
Radosław Dobrowolski ◽  
Jan Rodzik ◽  
...  
Keyword(s):  
Interdisciplinary Research ◽  
Qualitative Change ◽  
Archaeological Research ◽  
Research Status ◽  
History Of ◽  
Absolute Dating ◽  
First Time ◽  
Radiocarbon Datings

The article discusses the results of the latest interdisciplinary research of Czermno stronghold and its immediate surroundings. The site is mentioned in chroniclers’ entries referring to the stronghold Cherven’ (Tale of Bygone Years, first mention under the year 981) and the so-called Cherven’ Towns. Given the scarcity of written records regarding the history of today’s Eastern Poland, Ukraine, and Belarus in the 10th and 11th centuries, recent archaeological research, supported by geoenvironmental analyses and absolute dating, brought a significant qualitative change. In 2014 and 2015, the remains of the oldest rampart of the stronghold were uncovered for the first time. A series of radiocarbon datings allows us to refer the erection of the stronghold to the second half/late 10th century. The results of several years’ interdisciplinary research (2012-2020) introduce qualitatively new data to the issue of the Cherven’ Towns, which both change current considerations and confirm the extraordinary research potential in the archeology of the discussed region.

Cartographic production in Russia: main stages and trends

2020 ◽  
Vol 963 (9) ◽  
pp. 30-43
Author(s):  
M.Yu. Orlov
Keyword(s):  
Chronological Order ◽  
Xviii Century ◽  
New Methods ◽  
Current State ◽  
Factors Influencing ◽  
The Future ◽  
History Of ◽  
State Enterprises ◽  
Further Development

Studying the current state of cartography and ways of further developing the industry, the role of the map in the future of the society, new methods of promoting cartographic products is impossible without a deep scientific analyzing all the paths, events and factors influencing its formation and development throughout all the historic steps of cartographic production in Russia. In the article, the history of cartographic production in Russia is considered together with the development of private, state and military cartography, since, despite some differences, they have a common technical, technological and production basis. The author describes the stages of originating, formation and growth of industrial cartographic production from the beginning of the XVIII century until now. The connection between the change of political formations and technological structures with the mentioned stages of maps and atlases production is considered. Each stage is studied in detail, a step-by-step analysis was carried out, and the characteristics of each stage are described. All the events and facts are given in chronological order, highlighting especially significant moments influencing the evolution of cartographic production. The data on the volumes of printing and sales of atlases and maps by commercial and state enterprises are presented. The main trends and lines of further development of cartographic production in Russia are studied.

Reading English Verse in Manuscript c.1350-c.1500

2020 ◽  
Author(s):  
Daniel Sawyer
Keyword(s):  
Middle English ◽  
Geoffrey Chaucer ◽  
English Poetry ◽  
John Lydgate ◽  
Thomas Hoccleve ◽  
New Methods ◽  
English Verse ◽  
Middle English Poetry ◽  
History Of ◽  
Bodies Of Evidence

This volume offers the first book-length history of reading for Middle English poetry. Drawing on evidence from more than 450 manuscripts, it examines readers’ choices of material, their movements into and through books, their physical handling of poetry, and their attitudes to rhyme. It provides new knowledge about the poems of known writers such as Geoffrey Chaucer, John Lydgate, and Thomas Hoccleve by examining their transmission and reception together with a much larger mass of anonymous English poetry, including the most successful English poem before print, The Prick of Conscience. The evidence considered ranges from the weights and shapes of manuscripts to the intricate details of different stanza forms, and the chapters develop new methods which bring such seemingly disparate bodies of evidence into productive conversation with each other. Ultimately, this book shows how the reading of English verse in this period was bound up with a set of habitual but pervasive formalist concerns, which were negotiated through the layered agencies of poets, book producers, and other readers.

scholarly journals History of origin and development of customer service

Upravlenie ◽  
2020 ◽  
Vol 7 (4) ◽  
pp. 54-59 ◽  
Author(s):  
T. N. Sakulyeva ◽  
S. Trombetta
Keyword(s):  
Customer Service ◽  
Service Sector ◽  
Customer Orientation ◽  
Qualitative Change ◽  
Service Development ◽  
Class Division ◽  
Service Concept ◽  
Trade Relations ◽  
The People ◽  
History Of

Any interaction between two or more actors always involves different factors: economic, social, cultural, political and o ther. Studying the history of the service concept is impossible in the break from the study of the concept of trade. These two concepts in an inseparable bundle to more accurately reflect the importance of service both in small trade transactions and for the work of transport industry leaders, – have been considered in the article.The trade and economic breakthrough in the development of international trade relations, which dates back to the XIII century. The most important period for studying the history of the service concept as a key aspect of trade. The XX century has become really important for customer service. Created prerequisites, development of production, qualitative change in the life of the population – all it allowed both Russia and Europe to step far forward in terms of the service concept. If up to this point, the world has been convinced, that supply creates demand, then with the development of supply, with the expansion of services, with the advent of new modes of transport, namely, with the emergence of alternatives in any sphere of society, there is a new task – to attract customer to its product.The result of changes in the service sector in the XX century was a reorientation from production to customer, despite the uneven development of the countries of Europe and Russia, in the XXI century the countries rose about one step of service development. The only thing, that has become the strongest difference are the mental values of the people of Europe and Russia. Customer orientation prevails over one’s own interests, as the moral satisfaction of the process of interaction with the client is on a par with the material. Lack of class division of customers, and understanding the importance of separating needs according to opportunities is the basis for the development of service on transport.

scholarly journals The new big picture for linguistics: Complex systems

2018 ◽  
Vol 4 (1) ◽  
pp. 1-20
Author(s):  
William A. Kretzschmar
Keyword(s):  
Complex Systems ◽  
Distributional Pattern ◽  
Logical System ◽  
Human Speech ◽  
New Methods ◽  
Central Factor ◽  
History Of Linguistics ◽  
Big Picture ◽  
History Of ◽  
Logical Nature

Abstract In the history of linguistics there have been crucial moments when those of us interested in language have essentially changed the way we study our subject. We stand now at such a moment. In this presentation I will review the history of linguistics in order to highlight some past important changes in the field, and then turn to where we stand now. Some things that we thought we knew have turned out not to be true, like the systematic, logical nature of languages. Other things that we had not suspected, like a universal underlying emergent pattern for all the features of a language, are now evident. This emergent pattern is fractal, that is, we can observe the same distributional pattern in frequency profiles for linguistic variants at every level of scale in our analysis. We also have hints that time, as the persistence of a preference for particular variants of features, is a much more important part of our language than we had previously believed. We need to explore the new realities of language as we now understand them, chief among them the idea that patterned variation, not logical system, is the central factor in human speech. In order to account for what we now understand, we need to get used to new methods of study and presentation, and place new emphasis on different communities and groups of speakers. Because the underlying pattern of language is fractal, we need to examine the habits of every group of speakers at every location for themselves, as opposed to our previous emphasis on overall grammars. We need to make our studies much more local, as opposed to global. We do still want to make grammars and to understand language in global terms, but such generalizations need to follow from what we can now see as the pattern of language as it is actually used.

scholarly journals The origins of modern biodiversity on land

2010 ◽  
Vol 365 (1558) ◽  
pp. 3667-3679 ◽  
Author(s):  
Michael J. Benton
Keyword(s):  
Regional Scale ◽  
Global Scale ◽  
Scale Model ◽  
Time Range ◽  
Geological Time ◽  
New Methods ◽  
Evolution Of Life ◽  
History Of ◽  
Extinction Events ◽  
Mass Extinction Events

Comparative studies of large phylogenies of living and extinct groups have shown that most biodiversity arises from a small number of highly species-rich clades. To understand biodiversity, it is important to examine the history of these clades on geological time scales. This is part of a distinct ‘phylogenetic expansion’ view of macroevolution, and contrasts with the alternative, non-phylogenetic ‘equilibrium’ approach to the history of biodiversity. The latter viewpoint focuses on density-dependent models in which all life is described by a single global-scale model, and a case is made here that this approach may be less successful at representing the shape of the evolution of life than the phylogenetic expansion approach. The terrestrial fossil record is patchy, but is adequate for coarse-scale studies of groups such as vertebrates that possess fossilizable hard parts. New methods in phylogenetic analysis, morphometrics and the study of exceptional biotas allow new approaches. Models for diversity regulation through time range from the entirely biotic to the entirely physical, with many intermediates. Tetrapod diversity has risen as a result of the expansion of ecospace, rather than niche subdivision or regional-scale endemicity resulting from continental break-up. Tetrapod communities on land have been remarkably stable and have changed only when there was a revolution in floras (such as the demise of the Carboniferous coal forests, or the Cretaceous radiation of angiosperms) or following particularly severe mass extinction events, such as that at the end of the Permian.

Rethinking numismatics. The archaeology of coins

2011 ◽  
Vol 18 (1) ◽  
pp. 87-108 ◽  
Author(s):  
Fleur Kemmers ◽  
Nanouschka Myrberg
Keyword(s):  
Material Culture ◽  
Cultural Values ◽  
Formative Period ◽  
Material Objects ◽  
Culture Studies ◽  
New Methods ◽  
Constructive Dialogue ◽  
History Of ◽  
State Organization ◽  
The 19Th Century

AbstractThis paper sets out to re-member coins into archaeological discourse. It is argued that coins, as part of material culture, need to be examined within the theoretical framework of historical archaeology and material-culture studies. Through several case studies we demonstrate how coins, through their integration of text, image and existence as material objects, offer profound insights not only into matters of economy and the ‘big history’ of issuers and state organization but also into ‘small histories’, cultural values and the agency of humans and objects. In the formative period of archaeology in the 19th century the study of coins played an important role in the development of new methods and concepts. Today, numismatics is viewed as a field apart. The mutual benefits of our approach to the fields of archaeology and numismatics highlight the need for a new and constructive dialogue between the disciplines.

scholarly journals Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

2018 ◽  
Vol 76 (8) ◽  
pp. 555-562 ◽  
Author(s):  
Carlos Roberto Martins Junior ◽  
Fabrício Castro de Borba ◽  
Alberto Rolim Muro Martinez ◽  
Thiago Junqueira Ribeiro de Rezende ◽  
Iscia Lopes Cendes ◽  
...  
Keyword(s):  
Clinical Features ◽  
Autosomal Dominant ◽  
Trinucleotide Repeat ◽  
Point Of View ◽  
Spinocerebellar Ataxias ◽  
Coding Region ◽  
The Past ◽  
Monogenic Diseases ◽  
Repeat Expansions ◽  
Core Features

ABSTRACT Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features. An important proportion of SCAs are caused by CAG trinucleotide repeat expansions in the coding region of different genes. In addition to genetic heterogeneity, clinical features transcend motor symptoms, including cognitive, electrophysiological and imaging aspects. Despite all the progress in the past 25 years, the mechanisms that determine how neuronal death is mediated by these unstable expansions are still unclear. The aim of this article is to review, from an historical point of view, the first CAG-related ataxia to be genetically described: SCA 1.

Sign in / Sign up

Export Citation Format

Share Document