scholarly journals Ontological representation, classification and data-driven computing of phenotypes

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Alexandr Uciteli ◽  
Christoph Beger ◽  
Toralf Kirsten ◽  
Frank A. Meineke ◽  
Heinrich Herre

Abstract Background The successful determination and analysis of phenotypes plays a key role in the diagnostic process, the evaluation of risk factors and the recruitment of participants for clinical and epidemiological studies. The development of computable phenotype algorithms to solve these tasks is a challenging problem, caused by various reasons. Firstly, the term ‘phenotype’ has no generally agreed definition and its meaning depends on context. Secondly, the phenotypes are most commonly specified as non-computable descriptive documents. Recent attempts have shown that ontologies are a suitable way to handle phenotypes and that they can support clinical research and decision making. The SMITH Consortium is dedicated to rapidly establish an integrative medical informatics framework to provide physicians with the best available data and knowledge and enable innovative use of healthcare data for research and treatment optimisation. In the context of a methodological use case ‘phenotype pipeline’ (PheP), a technology to automatically generate phenotype classifications and annotations based on electronic health records (EHR) is developed. A large series of phenotype algorithms will be implemented. This implies that for each algorithm a classification scheme and its input variables have to be defined. Furthermore, a phenotype engine is required to evaluate and execute developed algorithms. Results In this article, we present a Core Ontology of Phenotypes (COP) and the software Phenotype Manager (PhenoMan), which implements a novel ontology-based method to model, classify and compute phenotypes from already available data. Our solution includes an enhanced iterative reasoning process combining classification tasks with mathematical calculations at runtime. The ontology as well as the reasoning method were successfully evaluated with selected phenotypes including SOFA score, socio-economic status, body surface area and WHO BMI classification based on available medical data. Conclusions We developed a novel ontology-based method to model phenotypes of living beings with the aim of automated phenotype reasoning based on available data. This new approach can be used in clinical context, e.g., for supporting the diagnostic process, evaluating risk factors, and recruiting appropriate participants for clinical and epidemiological studies.

2020 ◽  
Vol 26 (2) ◽  
pp. 155-162
Author(s):  
D. P. Tsygankova ◽  
N. V. Fedorova

Hypertension (HTN) is one of the most common diseases and a risk factor leading to disabling and fatal complications. Large-scale epidemiological studies in all countries convincingly prove the need for early prevention and treatment of this pathological condition. In conditions of rapid urbanization, it is necessary to look for individual measures for the prevention and treatment. In addition to the main risk factors for HTN, such as low physical activity and increased body weight, smoking, alcohol abuse, as well as sex and age, there is convincing evidence that the level of education, economic status, professional affiliation, living conditions are also potential predictors of HTN. The review presents an analysis of the main socio-economic risk factors for HTN and the mechanisms of their influence on blood pressure. The article discusses each factor, its impact on blood pressure and the body as a whole, as well as approaches for the identification of these factors.


Author(s):  
Derek de Beurs

Although suicide is a major public health issue worldwide, we understand little of the onset and development of suicidal behavior. Suicidal behavior is argued to be the end result of the complex interaction between psychological, social and biological factors. Epidemiological studies resulted in a range of risk factors for suicidal behavior, but we do not yet understand how their interaction increases the risk for suicidal behavior.  A new approach called network analysis can help us better understand this process as it allows to visualize and quantify complex association between many different symptoms or risk factors. A network analysis of data contain information on suicidal patients can help us understand how risk factors interact and how their interaction is related to suicidal thoughts and behaviour. A network perspective has been successfully applied to the field of depression and psychosis, but not yet to the field of suicidology. In this theoretical article, I will introduce the concept of network analysis to the field of suicide prevention, and offer directions for future applications and studies.


2013 ◽  
Vol 25 (3) ◽  
pp. 118-128 ◽  
Author(s):  
Florian Rehbein ◽  
Dirk Baier

In recent years, a variety of epidemiological studies have provided empirical data on the prevalence of video game addiction (GA) in different age groups. However, few studies investigated the causes of GA and could explain why video game playing as a widespread phenomenon leads to a comparatively small percentage of addicted players. Additionally, the existing longitudinal studies mainly consider psychological trait variables and neglect the possible explanatory value of predictors in socialization regarding media availability, media use, and family and everyday school life. In this paper, the results of a two-wave longitudinal study comprising a sample of students from Grades 4 to 9 (N = 406) are presented. The data show that 15-year-old video game addicts had already exhibited a number of specific risk factors at the age of 10. Students from single-parent families seem to be particularly at risk, as are students with low experienced school well-being and with a weaker social integration in class. The data also indicate that problematic use of video games in childhood increases the risk of GA in adolescence. Male students are especially vulnerable for developing GA. The results of this study are an important contribution to understanding risk factors for GA in adolescents, thereby laying the groundwork for effective prevention measures.


2018 ◽  
Vol 8 (2) ◽  
pp. 80-83
Author(s):  
Nadia Tariq ◽  
Tamkeen Jaffry ◽  
Rahma Fiaz ◽  
Abdul Majid Rajput ◽  
Sadaf Khalid

Background: Indoor air pollutants are increasingly being associated with respiratory illnesses leading to high degree of morbidity and mortality. There are not sufficient epidemiological studies from Pakistan which assess level of awareness of indoor air pollution resulting in respiratory diseases in population. Methods: This cross sectional survey was carried out on general population of Rawalpindi/Islamabad. Sample size was 223 study subjects selected by non-probability convenient sampling. Knowledge of the study subjects was determined with regard to indoor air pollution, its effects on health and different sources of indoor air pollution with the help of a questionnaire. The influence of age, gender, educational status and socio economic status on the level of awareness was also analyzed. Results: Out of total 223 participants, 115 were males and108 females. Participants aware of indoor air pollution were 91.5% and adequate awareness about its sources was 80.7%. Those who knew indoor air pollution is detrimental to health were 95.1%. Awareness about building construction dust as source of indoor air pollution was maximum (84.8%). There was significant difference in awareness among participants with different monthly incomes and educational status and also between males and females. Conclusion: This study concludes that general population of Rawalpindi/Islamabad has fairly good awareness about sources of indoor air pollution. Use of harmful material causing indoor air pollution should be limited or substituted with better ones where possible.


2019 ◽  
Vol 147 ◽  
Author(s):  
N. L. Adams ◽  
L. Byrne ◽  
T. C. Rose ◽  
G. K. Adak ◽  
C. Jenkins ◽  
...  

Abstract Shiga toxin-producing Escherichia coli (STEC) infection can cause serious illness including haemolytic uraemic syndrome. The role of socio-economic status (SES) in differential clinical presentation and exposure to potential risk factors amongst STEC cases has not previously been reported in England. We conducted an observational study using a dataset of all STEC cases identified in England, 2010–2015. Odds ratios for clinical characteristics of cases and foodborne, waterborne and environmental risk factors were estimated using logistic regression, stratified by SES, adjusting for baseline demographic factors. Incidence was higher in the highest SES group compared to the lowest (RR 1.54, 95% CI 1.19–2.00). Odds of Accident and Emergency attendance (OR 1.35, 95% CI 1.10–1.75) and hospitalisation (OR 1.71, 95% CI 1.36–2.15) because of illness were higher in the most disadvantaged compared to the least, suggesting potential lower ascertainment of milder cases or delayed care-seeking behaviour in disadvantaged groups. Advantaged individuals were significantly more likely to report salad/fruit/vegetable/herb consumption (OR 1.59, 95% CI 1.16–2.17), non-UK or UK travel (OR 1.76, 95% CI 1.40–2.27; OR 1.85, 95% CI 1.35–2.56) and environmental exposures (walking in a paddock, OR 1.82, 95% CI 1.22–2.70; soil contact, OR 1.52, 95% CI 2.13–1.09) suggesting other unmeasured risks, such as person-to-person transmission, could be more important in the most disadvantaged group.


2007 ◽  
Vol 21 (spe) ◽  
pp. 8-15 ◽  
Author(s):  
Rui Vicente Oppermann

The aim of the present review was to identify the presence of periodontal diseases and the relative importance of known risk factors in Latin American countries. The retrieved data are sparse and inconsistent, lacking information for the majority of the countries. Gingivitis is ubiquitous in the region, affecting all ages independently of the socioeconomic background. The extension of bleeding may vary greatly, ranging from 40% to 70% of sites. The prevalence of aggressive periodontitis is higher in Latin America than in industrialized countries. Prevalence ranges from 0.3% to 4.5%, and the localized form is the less prevalent. The prevalence of chronic periodontitis is high, with a large variation (40-80%) probably due to differences in methodology and diagnostic criteria. Regional differences may be relevant. Known risk factors are present in the populations studied. Non-modifiable factors such as age, gender and genetics have been associated in Brazilian and Chilean populations. Tobacco smoking and diabetes are relevant risk factors. The importance of socioeconomic status, although present as a risk factor, has been largely underestimated. Oral hygiene is extremely deficient in the area although it is a cultural habit in most populations. It can be concluded that periodontal diseases are highly prevalent in Latin American populations. Its prevalence and extent are associated with known risk factors. Oral hygiene habits are deficient. Well designed epidemiological studies with external validity are needed.


2010 ◽  
Vol 54 (5) ◽  
pp. 488-497 ◽  
Author(s):  
Arnaldo Schainberg ◽  
Antônio Ribeiro-Oliveira Jr. ◽  
José Marcio Ribeiro

It has been well documented that there is an increased prevalence of standard cardiovascular (CV) risk factors in association with diabetes and with diabetes-related abnormalities. Hyperglycemia, in particular, also plays an important role. Heart failure (HF) has become a frequent manifestation of cardiovascular disease (CVD) among individuals with diabetes mellitus. Epidemiological studies suggest that the effect of hyperglycemia on HF risk is independent of other known risk factors. Analysis of datasets from populations including individuals with dysglycemia suggests the pathogenic role of hyperglycemia on left ventricular function and on the natural history of HF. Despite substantial epidemiological evidence of the relationship between diabetes and HF, data from available interventional trials assessing the effect of a glucose-lowering strategy on CV outcomes are limited. To provide some insight into these issues, we describe in this review the recent important data to understand the natural course of CV disease in diabetic individuals and the role of hyperglycemia at different times in the progression of HF.


2018 ◽  
Vol 14 (03) ◽  
pp. 079-088
Author(s):  
Maduja Divarathne ◽  
Rukshan Ahamed ◽  
Faseeha Noordeen

AbstractAcute respiratory tract infections (ARTIs) are leading contributors to the global infectious disease burden, which is estimated to be 112,900,000 disability adjusted life years. Viruses contribute to the etiology of ARTIs in a big way compared with other microorganisms. Since the discovery of respiratory syncytial virus (RSV) 61 years ago, the virus has been recognized as a major cause of ARTI and hospitalization in children. The morbidity and mortality attributable to RSV infection appear to be higher in infants < 3 months and in those with known risk factors such as prematurity, chronic lung, and congenital heart diseases. Crowded living conditions, exposure to tobacco smoke, and industrial or other types of air pollution also increase the risk of RSV-associated ARTI. Many epidemiological studies have been conducted in developed countries to understand the seasonal patterns and risk factors associated with RSV infections. Dearth of information on RSV-associated morbidity and mortality in Asian and developing countries indicates the need for regional reviews to evaluate RSV-associated disease burden in these countries. Epidemiological studies including surveillance is the key to track the disease burden including risk factors, seasonality, morbidity, and mortality associated with RSV infection in these countries. These data will contribute to improve the clinical diagnosis and plan preventive strategies in resource-limited developing countries.


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