scholarly journals Genomic and transcriptomic landscape of conjunctival melanoma

PLoS Genetics ◽  
2020 ◽  
Vol 16 (12) ◽  
pp. e1009201
Author(s):  
Katarina Cisarova ◽  
Marc Folcher ◽  
Ikram El Zaoui ◽  
Rosanna Pescini-Gobert ◽  
Virginie G. Peter ◽  
...  
Keyword(s):  
Somatic Mutations ◽  
Uv Light ◽  
Point Of View ◽  
Conjunctival Melanoma ◽  
Recurrent Cancer ◽  
Immune Genes ◽  
Whole Exome ◽  
Tumor Tissues

Conjunctival melanoma (CJM) is a rare but potentially lethal and highly-recurrent cancer of the eye. Similar to cutaneous melanoma (CM), it originates from melanocytes. Unlike CM, however, CJM is relatively poorly characterized from a genomic point of view. To fill this knowledge gap and gain insight into the genomic nature of CJM, we performed whole-exome (WES) or whole-genome sequencing (WGS) of tumor-normal tissue pairs in 14 affected individuals, as well as RNA sequencing in a subset of 11 tumor tissues. Our results show that, similarly to CM, CJM is also characterized by a very high mutation load, composed of approximately 500 somatic mutations in exonic regions. This, as well as the presence of a UV light-induced mutational signature, are clear signs of the role of sunlight in CJM tumorigenesis. In addition, the genomic classification of CM proposed by TCGA seems to be well-applicable to CJM, with the presence of four typical subclasses defined on the basis of the most frequently mutated genes: BRAF, NF1, RAS, and triple wild-type. In line with these results, transcriptomic analyses revealed similarities with CM as well, namely the presence of a transcriptomic subtype enriched for immune genes and a subtype enriched for genes associated with keratins and epithelial functions. Finally, in seven tumors we detected somatic mutations in ACSS3, a possible new candidate oncogene. Transfected conjunctival melanoma cells overexpressing mutant ACSS3 showed higher proliferative activity, supporting the direct involvement of this gene in the tumorigenesis of CJM. Altogether, our results provide the first unbiased and complete genomic and transcriptomic classification of CJM.

scholarly journals HYPERMNESIA EUPHORIA OR ANY OTHER DESIRABLE FROM THE POINT OF VIEW OF THE CONSUMER, A PSYCHOTROPIC EFFECT - FIRST AND LEADING ELEMENT IN THE OCCURRENCE AND PRESERVATION OF THE BODY’S DEPENDENCE ON PSYCHOACTIVE FACTORS

2017 ◽  
Vol 9 (3) ◽  
pp. 40-46
Author(s):  
D G Baitubayev ◽  
M D Baitubayeva
Keyword(s):  
Substance Dependence ◽  
Point Of View ◽  
The Body ◽  
Long Term Memory ◽  
Vegetative Nervous System ◽  
Term Memory ◽  
Psychotropic Effect

The work shows the role of the vegetative nervous system (VNS) in the functioning of long-term memory, identity mechanisms of long-term memory in the human evolutionary adaptation and substance dependence. It is shown that, depending on the substance of the body are states like pro- gressive adaptation, that the bodycondition, depending on the chemical and psychogenic psychoactive- factors state of the same circle. It proposed the creation of a branch of medicine that combines study of the dependence of the organism, both on the chemical and psychoactive psychogenic factors. Given the classification of psychoactive factors.Onomastics formulated definitions of terminology changes and additions to be used in a new branch of medicine. Proposed allocation of the International Classifica- tion of diseases separate chapter for the classification of states like progressive adaptation of the body depending on psychoactive factors.

scholarly journals Somatic mutations in Parkinson disease are enriched in synaptic and neuronal processes

2020 ◽  
Author(s):  
Irene Lobon ◽  
Manuel Solis-Moruno ◽  
David Juan ◽  
Ashraf Muhaisen ◽  
Federico Abascal ◽  
...  
Keyword(s):  
Parkinson Disease ◽  
Somatic Mutations ◽  
Amplicon Sequencing ◽  
Brain Regions ◽  
Single Nucleotide Variants ◽  
Validation Rate ◽  
Synaptic Functions ◽  
Whole Exome ◽  
Neuronal Processes

The role of somatic mutations in complex diseases, including neurodevelopmental and neurodegenerative disorders, is becoming increasingly clear. To explore their relevance in sporadic Parkinson disease, we performed whole-exome sequencing in blood and four brain regions of ten patients. We identified 59 candidate somatic single nucleotide variants (sSNVs) through sensitive calling and extensive filtering. We validated 27 of them with amplicon-based deep sequencing, with a 70% validation rate for the highest-confidence variants. Most of the sSNVs were exclusively called in blood but were also found in the brain tissues with the ultra-deep amplicon sequencing, demonstrating the strength of multi-tissue sampling designs. We could confirm between 0 and 6 sSNVs per patient and generally those with a shorter lifespan carried more variants. Remarkably, the validated sSNVs are enriched in genes with synaptic functions that are co-expressed with genes previously associated with Parkinson disease.

scholarly journals The accountant's competences from the point of view of professionals working in the city of Vitória de Santo Antão - PE

2021 ◽  
Vol 13 (2) ◽  
Author(s):  
Andreza Moura dos Santos ◽  
Tania Nobre Gonçalves Ferreira Amorim ◽  
Tácio Marques da Cunha
Keyword(s):  
Social Role ◽  
Point Of View ◽  
Microsoft Excel ◽  
Accounting Firms ◽  
Science Courses ◽  
Political Economic ◽  
The City ◽  
Level Of Importance

Objective: The present research aimed to identify which competences are desirable to the accountant from the perspective of the accounting professionals who work in the offices of the city of Vitória de Santo Antão, in Pernambuco. Methodology: A descriptive field survey research was carried out, with a quantitative approach and the use of a specific questionnaire, applied to a sample of 26 accounting firms. The study considered the classification of competencies of the standard established by the IFAC International Federation of Accountants (2012), categorized as: intellectual; technical and functional; personal; interpersonal and communication; and organizational and business management, as well as the use of the set of competencies defined by the studies of Cardoso (2006), Callado and Amorim (2017). The research data were collected in person and by email, being treated with the aid of Microsoft Excel software, enabling the construction of tables for analysis. Results: The competences of the accountant indicated by the professionals of the area working in the offices located in the city of Vitória de Santo Antão, in Pernambuco, were consistent with those provided by IFAC (HEI 3), highlighting them with the highest level of importance, among the five categories classified in that standard: ability to identify problems, acting in accordance with the legislation, acting with ethics and integrity, working in a team, knowing how to manage and organize time well. One notices a trend towards the new role of the accountant, who is no longer seen as a mere "bean counter" but as a "business partner". Study Contributions: Identifying and understanding which are the competencies required of the accounting professional can assist in the growth and development of the same in organizations, since even though there are several investigations on this subject, it is consensual the understanding that the competence of the accountant is a construct in formation, thus not consolidated. Another contribution is to present to the accounting science courses in the region what the market expects from students, so that they can organise a political pedagogic project. By recognising which competences are considered relevant from the perspectives of the professionals themselves, discussions are enabled that seek to find suggestions for improvements to their education, and also about their social role, considering changes in the political, economic and technological spheres.

scholarly journals “I” deixis as a means of manifestation of the speaker personality (based on the speech of the radio interview participants)

2019 ◽  
pp. 67-75
Author(s):  
Olesya Olegovna Lisova
Keyword(s):  
Subjective Assessment ◽  
Point Of View ◽  
General Classification ◽  
Research Material ◽  
Formal Element ◽  
Communicative Act

The article is devoted to the consideration of the connection in the speech of a personal deixis with the facets of a linguistic personality, which are explicable to the speaker. Deixis is one of the important ego-markers and most clearly manifests itself in a dialogue situation, which determined the choice of radio interview as a research material. The interview involves three participants in the communicative act: the interviewer, the interviewee and the interview listener. The interviewer, despite his role as the organizer of the interview, manifests himself as a carrier of subjective assessment (explicit and implicit), and as a discursive personality, and as a professional. Depending on this, the speaker uses the pronoun “I” in speech in different meanings: from “I” as a formal element that organizes communication between interview participants to “I” as a marker of the speaker’s personality (biographical and mental). Similar meanings of the pronoun "I" are highlighted in the speech of the interviewee. In accordance with the function of the pronoun “I”, we propose the following general classification of the personal “I” deixis: “I” deixis of the organizer of the communicative act, which includes performative and discursive “I” deixis, and “I” deixis of the person of the speaker, consisting of the biographical and mental “I” deixis. It is proved that deictic, regardless of the function performed, contains an element of subjective assessment, that is, the speaker, even in the formal role of the organizer, always brings his point of view to the statement

scholarly journals Application of Genomics to Clinical Practice in Haematological Malignancy

2019 ◽  
Vol 7 (4) ◽  
pp. 236-252
Author(s):  
Coen Veenstra ◽  
David Bruce ◽  
Adele Timbs ◽  
Angela Hamblin
Keyword(s):  
Bone Marrow Aspirate ◽  
Residual Disease ◽  
Clinical Care ◽  
Lymphoid Tissues ◽  
Haematological Malignancies ◽  
Sequencing Technologies ◽  
Whole Exome ◽  
Disease Entities

Abstract Purpose of Review The usual abundance of fresh cells and high-quality DNA derived from bone marrow aspirate and peripheral blood mean haematological malignancies are at the forefront of the application of genomics to malignancy. This review evaluates where genomics is routinely used in clinical care and where opportunities for further application exist. Recent Findings The 2016 revision of the WHO classification of tumours of haematopoietic and lymphoid tissues increased the number of disease entities defined by, or whose diagnosis was strongly supported by, a specific genetic change. Increasingly combinations of mutations rather than individual lesions are being used to genomically classify heterogeneous disorders to inform prognosis and direct treatment. Furthermore, the role of different genetic aberrations as markers of measurable residual disease is being evaluated in clinical trials to allow intensification/de-intensification of treatment as appropriate and early detection of relapse. Summary Implementation of broader sequencing technologies such as whole exome/genome sequencing coupled with continuing developments in genomic technology to improve turn-around-times are likely to further reinforce the centrality of genomics in the management of haematological malignancies.

ABOUT QUESTION OF CLASSIFICATION OF PRINCIPLES CRIMINAL AND EXECUTIVE LAW

2017 ◽  
Author(s):  
Dmytro Pylypenko ◽  
Keyword(s):  
Common Law ◽  
Point Of View ◽  
Theoretical Concepts ◽  
Legal Principles ◽  
Leading Role ◽  
Legal Nature ◽  
Qualitative Component ◽  
Definition Of

The article is devoted to the definition of the classification of principles of criminal executive law. The article presents the views and positions of leading domestic scientists on this issue. Scientific concepts on the perception of the factor of systematics of the principles of criminal executive law as one of the key elements of the current branch of criminal executive law are analyzed. The focus is on the key elements of the system of principles of criminal executive law and existing theoretical concepts on this issue. Scientific positions on the quantitative and qualitative component of the system of principles of criminal executive law are given. The article draws attention to the fact that the quantitative criterion of principles is one of the debatable issues among scholars, most of whom tend to the "triad" of principles of criminal executive law, which consists of common law, intersectoral and sectoral principles. The article expresses the author's view on the mandatory consideration of the category of common law principles in the system of principles of criminal executive law as one of the key ones. It is proved that the leading role of these principles is determined by their essential characteristics, which reflect the natural and legal nature of common law principles. This circumstance, in turn, has a decisive influence on the entire legal system of the state. The author's opinion on the synonymous meaning of the categories "principles of law" and "legal principles" is expressed in the article. The scientific position on the existence of both institutions and sub-institutions within the framework of criminal executive law is supported. The author's point of view on the quantitative and qualitative composition of the system of principles of criminal executive law is expressed within the article. It has been proven that the system of these principles should have five key elements. Which include the following principles: common law, intersectoral, sectoral, institutional, subinstitutional.

On legal facts conditions in criminal executive law and their classification

2019 ◽  
pp. 77-87
Author(s):  
Егор Евгеньевич Новиков
Keyword(s):  
Third Parties ◽  
The State ◽  
Point Of View ◽  
Short Term ◽  
Legal Consequences

В статье рассматриваются юридические факты-состояния, порождающие, изменяющие или прекращающие уголовно-исполнительные правоотношения. Автор на основе анализа дискуссии ученых-юристов, посвященной определению места событий в системе юридических фактов, представил собственную точку зрения, касающуюся роли юридических фактов-состояний в уголовно-исполнительном праве. В работе аргументируется, что состояние следует отнести к одному из видов фактов-событий. Представлена классификация юридических фактов-событий, содержащихся в уголовно-исполнительном праве. Предлагается рассматриваемые правовые явления классифицировать по следующим основаниям: по происхождению (абсолютные (болезнь осужденного/родственников) и относительные (беременность, опьянение, родство); по времени существования (краткосрочные, длительные, постоянные); в зависимости от способности порождать правоотношения (состояния, влекущие стопроцентное возникновение юридических последствий и факты, порождающие возникновение юридических последствий, но при условии участия третьих лиц). The article deals with legal facts-states generating, changing or terminating criminal executive relations. The author, based on an analysis of the discussion of legal scholars devoted to determining the location of events in the system of legal facts, presented his own point of view regarding the role of legal facts-states in the criminal-executive law. The paper argues that the state should be attributed to one of the types of fact-events. The article presents the classification of legal facts-events contained in the criminal-executive law. It is proposed to classify the considered legal phenomena for the following reasons: by origin (absolute (illness of the convict / relatives) and relative (pregnancy, intoxication, kinship); by time of existence (short-term, long-term, permanent); depending on the ability to generate legal relations (conditions entailing 100 % of the occurrence of legal consequences and facts giving rise to the occurrence of legal consequences, but subject to the participation of third parties.

scholarly journals Role of colour in ecological approach to product and material design

2021 ◽  
Vol 26 (3) ◽  
pp. 33-41
Author(s):  
Soňa Otiepková
Keyword(s):  
Material Design ◽  
Product Evaluation ◽  
Research Paper ◽  
Point Of View ◽  
Human Interaction ◽  
Ecological Context ◽  
Fixed Boundaries ◽  
The Impact

Abstract The aim of this research paper is to map, document and classify new, progressive and perspective approaches to colour in product and material design. The purpose is to identify the impact and importance of colour in the creation of new materials and products from an ecological point of view. The majority of current progressive approaches to design creation and research is set in an ecological framework, taking into account their impact on the environment. The question is not whether colour is present in this process, but rather where it stands in this process, whether it can help it and how much it affects it. One of the objectives of this article is to raise awareness in this area and to arouse interest in and discussion on this topic. The theme of colours in design is often overlooked and relegated to the background. The results of several scientific studies on the impact of colour on product evaluation and consumer shopping behaviour suggest the potential of this topic and open up space for further research. In this research paper, we consider the approach of product and material designers and researchers to colour in an ecological context, as a stand-alone design and material creation group. Within this main group, individual approaches can be classified into four basic principles, which the paper defines and describes. They are analysed and researched in more depth through specific examples of the work of various designers. The principles have no fixed boundaries, they are not isolated. They influence or follow each other. This classification of the approach to colour in an ecological context allows us primarily to talk about it more professionally and attempt to define its importance and role in individual approach. Ultimately, it helps us answer the question of whether and how colour can affect the process of changing human interaction with the environment.

scholarly journals Hypermnesia of Euphoria or Any Other Desired, from the Point of View of the Consumer, Psychotropic Effect as the Initial and leading link in the Occurrence and Maintaining the Body’s Dependence on Psychoactive Factors

2018 ◽  
Vol 2 (2) ◽  
Keyword(s):  
Point Of View ◽  
The Body ◽  
Long Term Memory ◽  
Psychoactive Substances ◽  
Term Memory ◽  
Psychotropic Effect ◽  
Type Classification

The work shows the role of the autonomic nervous system in functioning of long-term memory, the identity of functioning of the mechanisms of long-term memory in the evolutionary adaptation of a man and dependence on psychoactive substances. It is shown that the dependences of the body on psychoactive substances are the states of progredient adaptation, that the states of dependence of the organism on psychoactive substances and on psychogenic psychoactive factors are the states of the same type. Classification of psychoactive factors is given. It is proposed to create a new branch of medicine combining study of the body’s dependence both on chemical and psychogenic psychoactive factors. Onomastic definitions to be used in this new branch of medicine are presented.

scholarly journals kValue, Meaning and Knowledge Classification Categories as a Language of Science

2020 ◽  
Vol 7 (4) ◽  
pp. 107-121
Author(s):  
N.V. Mikhalkin
Keyword(s):  
Graduate Students ◽  
Thought Experiment ◽  
Point Of View ◽  
Types Of Knowledge ◽  
Language Of Science ◽  
Research Activities ◽  
The University ◽  
Knowledge Classification

Aim. To Inthe firstplace, the traitsand properties ofе categories as the language of science included in them are knowledge and present, on this basis, a variant of their classification, so that they are used effectively in the research activities of students, undergraduates and graduate students. Methodology. The article analyzedandevaluated the categories as the language of science from the point of view of identifying different kinds and types of knowledge. In the study methods are used: analogies, comparative, generalization, system, interpretation of the results, thought experiment. Results. The paper clarifies the content of knowledge, which includes categories, disclosed their types and types, revealed the actual role of categories in the formation of competencies in the trainees, in their cognitive and transformative activities of graduates, presented the variant of knowledge classification of categories as a language of science and means of interaction of people. Research implications. The results of the study contribute to the understanding of the language of science, to the methodology of organizing and implementing the teaching and education of all kinds of students at the university.

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