scholarly journals The Evolving Field of Genetic Epidemiology: From Familial Aggregation to Genomic Sequencing

2019 ◽  
Vol 188 (12) ◽  
pp. 2069-2077
Author(s):  
Priya Duggal ◽  
Christine Ladd-Acosta ◽  
Debashree Ray ◽  
Terri H Beaty
Keyword(s):  
Genetic Epidemiology ◽  
Disease Risk ◽  
Familial Aggregation ◽  
Rna Expression ◽  
Entire Genome ◽  
The Past ◽  
Future Challenges ◽  
The Individual ◽  
Study Designs ◽  
Health Applications

Abstract The field of genetic epidemiology is relatively young and brings together genetics, epidemiology, and biostatistics to identify and implement the best study designs and statistical analyses for identifying genes controlling risk for complex and heterogeneous diseases (i.e., those where genes and environmental risk factors both contribute to etiology). The field has moved quickly over the past 40 years partly because the technology of genotyping and sequencing has forced it to adapt while adhering to the fundamental principles of genetics. In the last two decades, the available tools for genetic epidemiology have expanded from a genetic focus (considering 1 gene at a time) to a genomic focus (considering the entire genome), and now they must further expand to integrate information from other “-omics” (e.g., epigenomics, transcriptomics as measured by RNA expression) at both the individual and the population levels. Additionally, we can now also evaluate gene and environment interactions across populations to better understand exposure and the heterogeneity in disease risk. The future challenges facing genetic epidemiology are considerable both in scale and techniques, but the importance of the field will not diminish because by design it ties scientific goals with public health applications.

The Epidemiology of Genetic Epidemiology

1992 ◽  
Vol 41 (4) ◽  
pp. 261-273 ◽  
Author(s):  
J.L. Hopper
Keyword(s):  
Genetic Epidemiology ◽  
Familial Aggregation ◽  
Familial Risk ◽  
Twin Studies ◽  
Statistical Modelling ◽  
Twin Design ◽  
The Past ◽  
Increased Risk ◽  
Familial Risk Factors ◽  
Related Individuals

AbstractFamilial aggregation for disease is important; strong familial risk factors must exist even if the increased risk to a relative of an affected individual is modest. It is in practice difficult, however, to conduct studies in genetic epidemiology which conform to strict epidemiological principles. For twin studies there are two major questions: Are twins ‘no different’ from the population on which inference is to be made? Are study twins ‘no different’ to twins in the population? The importance of each question of bias depends on the scientific question, the trait(s) studied, and sampling issues. The strength of the twin design is its ability to refute the null hypothesis that genetic factors do not explain variation in a trait. Following the Popperian paradigm, alternate hypotheses should be considered in depth (both theoretically and empirically), with a design and sample size sufficient to exclude not just naive explanations. More sophisticated statistical techniques are now being applied, so the philosophy, assumptions, and limitations of statistical modelling must be appreciated. The concept of ‘heritability’ has, in the past, been misunderstood and misused. New advances in DNA technology promise to revolutionise epidemiological thinking, and so case-control-pedigree designs may well become standard tools. The strengths and limitations of studies based on related individuals as the sampling unit are discussed.

scholarly journals Study Designs in Genetic Epidemiology

ISRN Genetics ◽  
2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Leyla Sahebi ◽  
Saeed Dastgiri ◽  
Khalil Ansarin ◽  
Roya Sahebi ◽  
Seyyed Abolghasem Mohammadi
Keyword(s):  
Genetic Epidemiology ◽  
Familial Aggregation ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Environmental Determinants ◽  
Methodological Issues ◽  
Prevention And Treatment ◽  
Epidemiology Studies ◽  
Study Designs

Genetic epidemiology, as a relatively new issue, aims to explore the independent role of genetic-environmental determinants of diseases. Genetic epidemiology studies, depending on the objective, encompass the most preliminary surveys from the attempts to find family history in the occurrence of diseases to the most advanced surveys including specific strategies by clinical trials in the prevention of genetic diseases. Different objectives in genetic epidemiology studies require special methods and study designs. In this review, chief designs including familial aggregation, heritability, segregation, linkage, and association are evaluated; likewise, the purpose of diverse kinds of studies and analyses is briefly discussed. The utilization of study designs and related analyses according to the aims are the main issues and necessary in the accurate implementation of the study. Some methodological issues in relation to studies on tuberculosis are also reported. Attention to these issues might be useful in the implementation of these methods in the studies designed for the prevention and treatment of genetic disorders.

POLITICAL IDEOLOGY AS AN EVOLUTIONARY SYSTEM (TO THE THEORY OF COGNITIVE-IDEOLOGICAL MATRICES)

2020 ◽  
Author(s):  
Mikhail Konstantinov
Keyword(s):  
Political Ideology ◽  
Evolutionary System ◽  
Consciousness Level ◽  
The Past ◽  
Political Ideologies ◽  
Morphological Approach ◽  
Main Gene ◽  
Individual Consciousness ◽  
The Individual ◽  
Sociological Studies

The aim of the article is to concretize the concept of political ideology in the aspect of its matrix structure and in the context of the cognitive-evolutionary approach. Based on Michael Frieden's morphological approach to the analysis of ideological consciousness, the concept of cognitive-ideological matrices is introduced, which allows us to describe the process of transition from proto-ideological to ideological concepts proper, especially at the level of individual consciousness. The identification of the ideological concept as the main “gene” of conceptual variability and inheritance made it possible to describe the main parameters of the evolution of political ideologies and associate it with changes taking place at the individual consciousness level. The described concept was tested in a series of sociological studies of youth consciousness conducted in 2015-2016 and 2018-2020. As a result of the study, it was possible to first identify the “zero level” of ideology, at which the minds of young respondents are potentially open to the influence of diverse and often mutually exclusive ideological orientations, and second, to pinpoint the changes that have occurred in the cognitive ideological matrices of Rostov-on-Don students over the past five years. This study was conducted by scientists from the southern Federal University.

Anti-Inflammatory Properties of Plant Derived Natural Products – A Systematic Review

2019 ◽  
Vol 26 (24) ◽  
pp. 4506-4536 ◽  
Author(s):  
Iris E. Allijn ◽  
René P. Brinkhuis ◽  
Gert Storm ◽  
Raymond M. Schiffelers
Keyword(s):  
Systematic Review ◽  
Natural Products ◽  
Positive Control ◽  
Therapeutic Effects ◽  
Reference Compound ◽  
Individual Molecular Species ◽  
The Past ◽  
Anti Inflammatory ◽  
The Individual ◽  
Natural Medicines

Traditionally, natural medicines have been administered as plant extracts, which are composed of a mixture of molecules. The individual molecular species in this mixture may or may not contribute to the overall medicinal effects and some may even oppose the beneficial activity of others. To better control therapeutic effects, studies that characterized specific molecules and describe their individual activity that have been performed over the past decades. These studies appear to underline that natural products are particularly effective as antioxidants and anti-inflammatory agents. In this systematic review we aimed to identify potent anti-inflammatory natural products and relate their efficacy to their chemical structure and physicochemical properties. To identify these compounds, we performed a comprehensive literature search to find those studies, in which a dose-response description and a positive control reference compound was used to benchmark the observed activity. Of the analyzed papers, 7% of initially selected studies met these requirements and were subjected to further analysis. This analysis revealed that most selected natural products indeed appeared to possess anti-inflammatory activities, in particular anti-oxidative properties. In addition, 14% of the natural products outperformed the remaining natural products in all tested assays and are attractive candidates as new anti-inflammatory agents.

Temporal Focus

2020 ◽  
Author(s):  
Abbie J. Shipp
Keyword(s):  
Well Being ◽  
Psychology Research ◽  
The Past ◽  
Research Areas ◽  
The Future ◽  
Behavior Based ◽  
The Individual ◽  
And Behavior ◽  
Temporal Focus

Temporal focus is the individual tendency to characteristically think more or less about the past, present, and future. Although originally rooted in early work from psychology, research on temporal focus has been steadily growing in a number of research areas, particularly since Zimbardo and Boyd’s (1999) influential article on the topic. This chapter will review temporal focus research from the past to the present, including how temporal focus has been conceptualized and measured, and which correlates and outcomes have been tested in terms of well-being and behavior. Based on this review, an agenda for research is created to direct temporal focus research in the future.

scholarly journals Adolescent and adult laryngotracheal stenosis: a review

2021 ◽  
Vol 37 (1) ◽  
Author(s):  
Gerhard Johan Klopper ◽  
Oladele Vincent Adeniyi ◽  
Kate Stephenson
Keyword(s):  
Intensive Care ◽  
Past Century ◽  
Main Body ◽  
Laryngotracheal Stenosis ◽  
Airway Protection ◽  
Interventional Pulmonology ◽  
The Past ◽  
Airway Emergency ◽  
The Individual ◽  
And Function

Abstract Background The larynx has multiple composite functions which include phonation, airway protection, and sensory control of respiration. Stenosis of the larynx and trachea were first recorded by O’Dwyer in 1885 and by Colles in 1886, respectively. Initially, the aetiology of laryngotracheal stenosis was predominantly infective. Currently, the leading cause is iatrogenic injury to the laryngotracheal complex secondary to prolonged ventilation in an intensive care unit. Main body Laryngotracheal stenosis is a complex and diverse disease. It poses a major challenge to the surgeon and can present as an airway emergency. Management typically demands the combined involvement of various disciplines including otorhinolaryngology, cardiothoracic surgery, anaesthesiology, interventional pulmonology, and radiology. Both the disease and its management can impact upon respiration, voice, and swallowing. The incidence of iatrogenic laryngotracheal stenosis has reflected the evolution of airway and intensive care whilst airway surgery has advanced concurrently over the past century. Correction of laryngotracheal stenosis requires expansion of the airway lumen; this is achieved by either endoscopic or open surgery. We review the relevant basic science, aetiopathogenesis, diagnosis, management, and treatment outcomes of LTS. Conclusion The choice of surgical procedure in the management of laryngotracheal stenosis is often dictated by the individual anatomy and function of the larynx and trachea, together with patient factors and available facilities. Regardless of how the surgeon chooses to approach these lesions, prevention of iatrogenic laryngotracheal damage remains of primary importance.

scholarly journals Contributions of Hypoxia-Awareness Training to the Familiarization of Personal Symptoms for Occupational Safety in the Flight Environment

2021 ◽  
Vol 18 (6) ◽  
pp. 2904
Author(s):  
Kwo-Tsao Chiang ◽  
Min-Yu Tu ◽  
Chao-Chien Cheng ◽  
Hsin-Hui Chen ◽  
Wun-Wei Huang ◽  
...  
Keyword(s):  
Occupational Safety ◽  
Safety Issue ◽  
Hot Flashes ◽  
Occurrence Rate ◽  
Flight Safety ◽  
Awareness Training ◽  
The Past ◽  
Individual Memory ◽  
The Individual ◽  
Poor Concentration

Hypoxia remains a flight-safety issue in terms of aviation medicine. Hypoxia-awareness training has been used to help aircrew members recognize personal hypoxia symptoms. There is still no study, as yet, to establish the association of within-subject data between inflight hypoxia events and the altitude chamber. The main purpose of our study was to use paired subjects’ data on inflight hypoxia symptoms compared with those experienced during training. A questionnaire was developed to obtain information on military aircrew members in 2018. Among 341 subjects, 46 (13.49%) suffered from inflight hypoxia. The majority of the subjects detected ongoing inflight hypoxia on the basis of their previous experience with personal hypoxia symptoms or sensations in previous chamber flights. Of the top five hypoxia symptoms, the data revealed that hot flashes, poor concentration, and impaired cognitive function appeared both during the inflight events and during the hypoxia-awareness training. The occurrence rate of hypoxia symptoms was found to not be significantly different between the in-flight events and the past chamber flights through an analysis of within-subject data. Because the individual memory had faded away over time, fresher hypoxia awareness training is still mandatory and valuable to recall personal hypoxia experience for military aircrew members.

scholarly journals Recent progress understanding pathophysiology and genesis of brain AVM—a narrative review

2021 ◽  
Author(s):  
Hans-Jakob Steiger
Keyword(s):  
Large Degree ◽  
Advanced Imaging ◽  
Genetic Origin ◽  
The Past ◽  
Open Questions ◽  
Brain Avm ◽  
Pubmed Search ◽  
Substantial Progress ◽  
The Individual ◽  
Arterial Aneurysms

AbstractConsiderable progress has been made over the past years to better understand the genetic nature and pathophysiology of brain AVM. For the actual review, a PubMed search was carried out regarding the embryology, inflammation, advanced imaging, and fluid dynamical modeling of brain AVM. Whole-genome sequencing clarified the genetic origin of sporadic and familial AVM to a large degree, although some open questions remain. Advanced MRI and DSA techniques allow for better segmentation of feeding arteries, nidus, and draining veins, as well as the deduction of hemodynamic parameters such as flow and pressure in the individual AVM compartments. Nonetheless, complete modeling of the intranidal flow structure by computed fluid dynamics (CFD) is not possible so far. Substantial progress has been made towards understanding the embryology of brain AVM. In contrast to arterial aneurysms, complete modeling of the intranidal flow and a thorough understanding of the mechanical properties of the AVM nidus are still lacking at the present time.

scholarly journals Inflammation, epigenetics, and metabolism converge to cell senescence and ageing: the regulation and intervention

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Xudong Zhu ◽  
Zhiyang Chen ◽  
Weiyan Shen ◽  
Gang Huang ◽  
John M. Sedivy ◽  
...  
Keyword(s):  
Cell Fate ◽  
Cellular Response ◽  
State Of The Art ◽  
Cell Senescence ◽  
Therapeutic Interventions ◽  
Cell Fate Decision ◽  
The Past ◽  
Fate Decision ◽  
The Individual ◽  
Remarkable Progress

AbstractRemarkable progress in ageing research has been achieved over the past decades. General perceptions and experimental evidence pinpoint that the decline of physical function often initiates by cell senescence and organ ageing. Epigenetic dynamics and immunometabolic reprogramming link to the alterations of cellular response to intrinsic and extrinsic stimuli, representing current hotspots as they not only (re-)shape the individual cell identity, but also involve in cell fate decision. This review focuses on the present findings and emerging concepts in epigenetic, inflammatory, and metabolic regulations and the consequences of the ageing process. Potential therapeutic interventions targeting cell senescence and regulatory mechanisms, using state-of-the-art techniques are also discussed.

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