scholarly journals Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample

2019 ◽  
Vol 5 (8) ◽  
pp. eaaw7195 ◽  
Author(s):  
Arezoo Movaghar ◽  
David Page ◽  
Murray Brilliant ◽  
Mei Wang Baker ◽  
Jan Greenberg ◽  
...  

The impact of the FMR1 premutation on human health is the subject of considerable controversy. A fundamental unanswered question is whether carrying the premutation allele is directly correlated with clinical phenotypes. A challenging problem in past genotype-phenotype studies of the FMR1 premutation is ascertainment bias, which could lead to invalid research conclusions and negatively affect clinical practice. Here, we created the first population-based FMR1-informed biobank to find the pattern of health characteristics in premutation carriers. Our extensive phenotyping shows that premutation carriers experience a clinical profile that is significantly different from controls and is evident throughout adulthood. Comprehensive understanding of the clinical risk associated with this genetic variant is critical for premutation carriers, their families, and clinicians and has important implications for public health.

Biostatistics ◽  
2016 ◽  
Vol 17 (4) ◽  
pp. 764-778 ◽  
Author(s):  
Joseph Antonelli ◽  
Matthew Cefalu ◽  
Luke Bornn

Summary In environmental epidemiology, exposures are not always available at subject locations and must be predicted using monitoring data. The monitor locations are often outside the control of researchers, and previous studies have shown that “preferential sampling” of monitoring locations can adversely affect exposure prediction and subsequent health effect estimation. We adopt a slightly different definition of preferential sampling than is typically seen in the literature, which we call population-based preferential sampling. Population-based preferential sampling occurs when the location of the monitors is dependent on the subject locations. We show the impact that population-based preferential sampling has on exposure prediction and health effect estimation using analytic results and a simulation study. A simple, one-parameter model is proposed to measure the degree to which monitors are preferentially sampled with respect to population density. We then discuss these concepts in the context of PM2.5 and the EPA Air Quality System monitoring sites, which are generally placed in areas of higher population density to capture the population's exposure.


2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Ni Gusti Ayu Nanditha ◽  
Xinzhe Dong ◽  
Taylor McLinden ◽  
Paul Sereda ◽  
Jacek Kopec ◽  
...  

Abstract Background We described the impact of different lengths of lookback window (LW), a retrospective time period to observe diagnoses in administrative data, on the prevalence and incidence of eight chronic diseases. Methods Our study populations included people living with HIV (N = 5151) and 1:5 age-sex-matched HIV-negative individuals (N = 25,755) in British Columbia, Canada, with complete follow-up between 1996 and 2012. We measured period prevalence and incidence of diseases in 2012 using LWs ranging from 1 to 16 years. Cases were deemed prevalent if identified in 2012 or within a defined LW, and incident if newly identified in 2012 with no previous cases detected within a defined LW. Chronic disease cases were ascertained using published case-finding algorithms applied to population-based provincial administrative health datasets. Results Overall, using cases identified by the full 16-year LW as the reference, LWs ≥8 years and ≥ 4 years reduced the proportion of misclassified prevalent and incidence cases of most diseases to < 20%, respectively. The impact of LWs varied across diseases and populations. Conclusions This study underscored the importance of carefully choosing LWs and demonstrated data-driven approaches that may inform these choices. To improve comparability of prevalence and incidence estimates across different settings, we recommend transparent reporting of the rationale and limitations of chosen LWs.


2021 ◽  
Vol 4 (3) ◽  
pp. 70-84
Author(s):  
Nathalia Delfavero Batista ◽  
Korina Aparecida Teixeira Ferreira da Costa

In order to seek better conditions in the life of the population and promote human dignity, a study was carried out to implement a Popular Restaurant unit in the city of Presidente Prudente, considering the impact that their performance has on society, in the scenario of social inequalities and the lack of similar equipment in the region. The main objective is to guarantee a basic and fundamental right, seeking to meet the human need foraccess to affordable daily meals, covering mainly the most socially vulnerable population. Based on theoretical foundations that sustain and improve the understanding on the subject, through studies and analysis of project antecedents, and after technicalsurveys, the project has its beginning in the search for a location that concentrates possible users, resulting in a pre-existence close to the central quadrilateral. Thus, presenting itself as a social policy to fight hunger, the project materializes in a space of social representation, adjusted to the human reality of the target audience and thought in a way that can stimulate the affective feelings to the place, be it of belonging, of security and protection, that the equipment can be understood beyond a collective space, but as a political space, guaranteeing users the experience of social emancipation through obtaining the right to food. Going against the deprivation of freedom of survival and the pain of hunger, the Popular Restaurant adds socially and economically to the city of Presidente Pudente


2020 ◽  
Vol 2 (1) ◽  
pp. 1-5
Author(s):  
Ammar Ahmed ◽  
Rafat Naseer ◽  
Muhammad Asadullah ◽  
Hadia Khan

In this competitive environment, organizations strive to satisfy their customer by providing best quality service at affordable and fair prices with a view to enhance their revenues. To achieve the objective of revenue maximization, organizations strive to identify the factors that help them in retaining their customers. Drawing from the signalling theory of marketing, the current study proposes a novel conceptual model representing the impact of service quality with food quality and price fairness on customer retention in restaurant sector of Pakistan. The paper underlines an important arena of knowledge for academicians as well as organizational scientists on the subject. On the basis of literature available on the variables understudy, the present study forwards eight research propositions worthy of urgent scholarly attention. The conceptualized model of the present article can also be viewed significant in unleashing further avenues for the restaurant management entities, policy makers and future researchers in the domain of managing in the service sector businesses.


Author(s):  
Oleksandr Synenko ◽  
Kateryna Yarema ◽  
Yuliia Bezsmertna

The subject of the research is the approach to the possibility of using the Solow model to perform the regression analysis on the example of the Ukrainian economy model. The purpose of writing this article is to investigate the notion of regres- sion analysis, Solow’s economy model, algorithm for performing regression analy- sis on the example of Ukraine’s economy model. This model can be adapted for the economy of enterprises. Methodology. The research methodology is system-struc- tural and comparative analyzes (to study the structure of GDP); monograph (when studying methods of regression analysis on the example of the Ukrainian economy); economic analysis (when assessing the impact of factors on Ukraine’s GDP). The scientific novelty consists the features of the use of the Solow model on the ex- ample of Ukrainian economy are determined. An algorithm for calculating the basic parameters of a model using the Excel application package is disclosed. The main recommendations on the development of the national economy and economic growth through the use of macroeconomic instruments are given. Conclusions. The use of the Solow model enables forecasting and analysis. The results obtained re- vealed the problem of low resource return of capital as a resource, along with the means of macroeconomic regulation of the investment process, using which can improve the situation. A special place in these funds belongs to the accelerated depreciation and interest rate policies.


Author(s):  
Igor Ponomarenko ◽  
Kateryna Volovnenko

The subject of the research is a set of approaches to the statistical analysis ofthe activities of small business entities in Ukraine, including micro-enterprises. The purpose of writing this article is to study of the features of functioningof small business entities in Ukraine. Methodology. The research methodology isto use a system-structural and comparative analysis (to study the change in thenumber of small enterprises by major components); monographic (when studyingmethods of statistical analysis of small businesses); economic analysis (when assessing the impact of small business entities on socio-economic phenomena andprocesses in Ukraine). The scientific novelty consists to determine the features ofthe functioning of small businesses in Ukraine in modern conditions. The influenceof the activities of the main socio-economic and political indicators on the activities of small enterprises in recent periods of time has been identified. It has beenestablished that there is flexibility in the development of strategies by small businesses in conditions of significant competition, which makes it possible to quicklyrespond to changing situations in specific markets. Conclusions. The use of acomprehensive statistical analysis of small businesses functioning in Ukraine willallow government agencies to develop a set of measures to optimize the activitiesof these enterprises, which ultimately will positively affect the strengthening oftheir competitiveness and will contribute to the growth of the national economicsystem.


e-Finanse ◽  
2018 ◽  
Vol 14 (4) ◽  
pp. 67-76
Author(s):  
Piotr Bartkiewicz

AbstractThe article presents the results of the review of the empirical literature regarding the impact of quantitative easing (QE) on emerging markets (EMs). The subject is of interest to policymakers and researchers due to the increasingly larger role of EMs in the world economy and the large-scale capital flows occurring after 2009. The review is conducted in a systematic manner and takes into consideration different methodological choices, samples and measurement issues. The paper puts the summarized results in the context of transmission channels identified in the literature. There are few distinct methodological approaches present in the literature. While there is a consensus regarding the direction of the impact of QE on EMs, its size and durability have not yet been assessed with sufficient precision. In addition, there are clear gaps in the empirical findings, not least related to relative underrepresentation of the CEE region (in particular, Poland).


Author(s):  
Evgeniya Mikhailovna Popova ◽  
Guzel Mukhtarovna Guseinova ◽  
Sergei Borisovich Milov

The deficit of subnational budgets and deceleration capital investments in multiple Russian regions increase the relevance of research aimed at improvement of tax incentivizing practice of the regional investment process. The studies focused on determination of the impact of socioeconomic and institutional factors upon the efficiency of investment tax expenses obtained wide circulation within the foreign scientific literature. The subject of this article is the assessment of sensitivity of the efficiency of regional tax expanses towards investment attractiveness of the types of economic activity carried out by the residents of territories of advanced socioeconomic development, created in the subjects of Far Easter Federal District. The scientific novelty and practical values of this research consists in substantiation of the reasonableness of assessment of investment attractiveness of the types of economic activity that are stimulated by tax incentives. Methodology for assessing investment attractiveness is proposed and tested. The conclusion is made that in case of low investment attractiveness of the type of economic activity, which was planned to support by tax incentives, it is required to conduct and additional analysis to avoid unjustified tax expanses.


1991 ◽  
Vol 30 (2) ◽  
pp. 213-217
Author(s):  
Mir Annice Mahmood

Foreign aid has been the subject of much examination and research ever since it entered the economic armamentarium approximately 45 years ago. This was the time when the Second World War had successfully ended for the Allies in the defeat of Germany and Japan. However, a new enemy, the Soviet Union, had materialized at the end of the conflict. To counter the threat from the East, the United States undertook the implementation of the Marshal Plan, which was extremely successful in rebuilding and revitalizing a shattered Western Europe. Aid had made its impact. The book under review is by three well-known economists and is the outcome of a study sponsored by the Department of State and the United States Agency for International Development. The major objective of this study was to evaluate the impact of assistance, i.e., aid, on economic development. This evaluation however, was to be based on the existing literature on the subject. The book has five major parts: Part One deals with development thought and development assistance; Part Two looks at the relationship between donors and recipients; Part Three evaluates the use of aid by sector; Part Four presents country case-studies; and Part Five synthesizes the lessons from development assistance. Part One of the book is very informative in that it summarises very concisely the theoretical underpinnings of the aid process. In the beginning, aid was thought to be the answer to underdevelopment which could be achieved by a transfer of capital from the rich to the poor. This approach, however, did not succeed as it was simplistic. Capital transfers were not sufficient in themselves to bring about development, as research in this area came to reveal. The development process is a complicated one, with inputs from all sectors of the economy. Thus, it came to be recognized that factors such as low literacy rates, poor health facilities, and lack of social infrastructure are also responsible for economic backwardness. Part One of the book, therefore, sums up appropriately the various trends in development thought. This is important because the book deals primarily with the issue of the effectiveness of aid as a catalyst to further economic development.


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