LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants

Motivation: Loss-of-Function (LoF) variants in human genes are important due to their impact on clinical phenotypes and frequent occurrence in the genomes of healthy individuals. Current approaches predict high-confidence LoF variants without identifying the specific genes or the number of copies they affect. Moreover, there is a lack of methods for detecting knockout genes caused by compound heterozygous (CH) LoF variants. Results: We have developed the Loss-of-Function ToolKit (LoFTK), which allows efficient and automated prediction of LoF variants from both genotyped and sequenced genomes. LoFTK enables the identification of genes that are inactive in one or two copies and provides summary statistics for downstream analyses. LoFTK can identify CH LoF variants, which result in LoF genes with two copies lost. Using data from parents and offspring we show that 96% of CH LoF genes predicted by LoFTK in the offspring have the respective alleles donated by each parent. Availability and implementation: LoFTK is an open source software and is freely available to non-commercial users at https://github.com/CirculatoryHealth/LoFTK

Motivation: Up and down: Implementation of a motivational model and assessing the results

The opportunity to enroll in a foreign university skyrockets the motivation of many students. However, a huge number of these students eventually find themselves, in the midst of their studies, to unsure that they will even be able to graduate. This article focuses on the causes of demotivation for these students and aims to find a solution to this problem. Our study relies on previous research conducted by H. Douglas Brown, Zoltan Doernyei, Natalie Ness, Penny Ur, Desley I. Watson-Raston, and others. This article contributes to this literature by, first, looking into the causes of motivation loss among foreign students studying the English language in Russia, and second, by proposing certain tactics that could be put into practice in the classroom. By conducting our research over the last year and a half, we have come to several conclusions. According to our observations, authentic materials, along with the freedom for students to choose study topics and the way assignments are presented determinately increases not only student motivation but also improve learning results in speaking and writing. In our research, we tried to use a big variety of research methods. These included focus and control groups, general and individual questionnaires, video essays, and classic tests.

Digital Technologies in the Training of Psychologists in Vladivostok

In the context of the information volumes continuous growth, the digitalization of education is considered a necessary tool for the modernization of the educational system. There is a pronounced specificity of training specialists in the various fields of science - natural, humanitarian, technical and exact. How does work differ in the different forms of training specialists - full-time and part-time. There are peculiarities, opportunities and traditions in every particular university. In this regard, the problem arises of the need to digitalize education, determining the measure, and sufficiency in each case. The functioning of the current digital educational environment is due to both the psychophysiological capabilities of the human body, moral and ethical principles. The purpose of the study is to identify the saturation of digital educational technologies in the process of full-time training of students-psychologists and conflictologists at FEFU. Research methods: problematization, survey, observation. The author examines two components of digitalization at the university - the learning process, and its organization and concludes the sufficiency of the information technologies use in the training of psychologists and conflictologists at FEFU. The author also draws attention to the active use of technical means in the educational process - the formalization of education, which manifests itself in a decrease of students’ motivation, loss of interest, involvement, “non-appropriation” of information. Prevents direct transfer of distance learning formats to full-time. Requests the need for informational support of teachers. Emphasizes attention to ensuring the high-quality functioning of technical means.

Molecular codes and in vitro generation of hypocretin and melanin concentrating hormone neurons

Hypocretin/orexin (HCRT) and melanin concentrating hormone (MCH) neuropeptides are exclusively produced by the lateral hypothalamus and play important roles in sleep, metabolism, reward, and motivation. Loss of HCRT (ligands or receptors) causes the sleep disorder narcolepsy with cataplexy in humans and in animal models. How these neuropeptides are produced and involved in diverse functions remain unknown. Here, we developed methods to sort and purify HCRT and MCH neurons from the mouse late embryonic hypothalamus. RNA sequencing revealed key factors of fate determination for HCRT (Peg3, Ahr1, Six6, Nr2f2, and Prrx1) and MCH (Lmx1, Gbx2, and Peg3) neurons. Loss of Peg3 in mice significantly reduces HCRT and MCH cell numbers, while knock-down of a Peg3 ortholog in zebrafish completely abolishes their expression, resulting in a 2-fold increase in sleep amount. We also found that loss of HCRT neurons in Hcrt-ataxin-3 mice results in a specific 50% decrease in another orexigenic neuropeptide, QRFP, that might explain the metabolic syndrome in narcolepsy. The transcriptome results were used to develop protocols for the production of HCRT and MCH neurons from induced pluripotent stem cells and ascorbic acid was found necessary for HCRT and BMP7 for MCH cell differentiation. Our results provide a platform to understand the development and expression of HCRT and MCH and their multiple functions in health and disease.

Broadcasting War Trauma: An Exploratory Netnography of Veterans’ YouTube Vlogs

This exploratory netnographic study is among the first to investigate military video blogs (milvlogs) posted by Iraq and Afghanistan veterans who self-published stories on military-related trauma to YouTube. Studies have shown that self-published milvlogs provide benefits such as education, social support, and self-management of chronic physical and psychological illness. The aim of this study was to explore combat veterans’ milvlogs and to determine themes that emerged across the videos. We transcribed and analyzed content from 17 milvlogs. Our analysis yielded seven themes: motivation, loss, managing symptoms, help-seeking, guilt and shame, suicide, and connecting to other veterans. We concluded that veterans were initially drawn to vlogging to connect to others. Vlogging also served as a medium for combat veterans to tell their stories, position these stories against others’ experiences, and engage in outreach and advocacy. Finally, milvlogs may provide an easily accessible resource for developing preventive and/or mental health treatment/support links.

About the concept for eradication of diseases

The programs carried out previously for the eradication of infectious diseases have been described with the special attention in regard to the reasons of its failures and/or negative experience gained. So far the global program on smallpox eradication achieved the established goal, while two other, polio eradication initiative and dracontiasis eradication, are still going on rather long period of time. The program of elimination of measles and rubella, which according to the original plan, should be movedfor eradication in the future, is facing a lot ofproblems for the time being and therefore it is difficult to predict any future developments in this area. Nevertheless a number of initiatives and/or programs are very much keen nowadays to establish the goal of eradication or elimination without, according the authors opinion, serious and deep analysis of the burden of the targeted disease, its epidemiological and clinical peculiarities, feasibility for achievement of goal etc. The criterions for the disease selection for eradication/elimination are presented in the article. The hasty decision on such matter may lead to the failure of initiative, lack of the staff motivation, loss of the public health authority prestige and discredit the disease eradication concept as such.

Personality Trait Absorption: An Exploratory Study of Opportunity and Capacity in Relation to Cannabis Use

Although the Tellegen Absorption Scale has been widely employed in recent years as a measure of personality Trait Absorption, it is argued that this simple score does not sufficiently discriminate true capacity for Absorption nor does it reveal the level of opportunity made for absorptive experiencing. This study operationalizes Capacity and Opportunity as two additional subscales appended to the Tellegen scale and, by employing the technique of Principal Components Analysis, five useful sub-dimensions are generated. Following on from this Author's earlier suggestion that personality Trait Absorption may be linked to cannabis use and depression, an exploratory study was conducted into the relationship of cannabis use, gender, self-perceived motivation loss and depression to observed levels of overall Absorption as well as to levels of Capacity and Opportunity for absorptive experiencing.