On adopting Ontology Alignment techniques within the Phenotype Acquisition Process

The work presented in this paper is framed within the context of the BigMed project, aproject funded by the Norwegian Research Council. One of the objectives of BigMed isto enhance the phenotype acquisition process in newborns with a monogenetic disorder,one of the four patient groups studied in the project. The use of the Human PhenotypeOntology (HPO) [1] to tag phenotypes and systems like PhenoTips have substantiallycontributed to the overall phenotype acquisition workflow. PhenoTips [2] is a systemfor the acquisition of phenotypic information in patients with a genetic disease. Phe-noTips also suggests, given a selected set of HPO terms, candidate diagnoses usingOMIM (Online Mendelian Inheritance in Man) codes, and related genes for a subse-quent genetic test. Although PhenoTips represents a fantastic effort, we believe it couldbe extended with suitable Semantic Web solutions. In this paper, we present the firststeps to adopt ontology alignment techniques to contribute to the diagnostic process

Finding Data Should be Easier than Finding Oil

The competitiveness of modern enterprises heavily depends on their ability to make the right business decisions by relying on efficient and timely analysis of the right business critical data. In large and data intensive companies such as Equinor, a Norwegian multinational oil and gas company with more than 20,000 employees, gathering such data is not a trivial task due to the growing size and complexity of corporate information sources. As a result, the data gathering task is often the most time-consuming part of the decision making process, in particular when it comes to the work processes of Equinor's exploration geologists that should find in a timely manner new exploitable accumulations of oil or gas in given areas by analysing data about these areas. In this work we present our experience in addressing this data challenge tast at Equinor. We have developed and deployed at Equinor a semantic data access system that relies on the Ontology Based Data Access (OBDA) approach. Our system is based on our solid theoretical contributions and has been extensively evaluated at Equinor

International variation in prescribing antihypertensive drugs: Its extent and possible explanations

BACKGROUND: Inexpensive antihypertensive drugs are at least as effective and safe as more expensive drugs. Overuse of newer, more expensive antihypertensive drugs is a poor use of resources. The potential savings are substantial, but vary across countries, in large part due to differences in prescribing patterns. We wanted to describe prescribing patterns of antihypertensive drugs in ten countries and explore possible reasons for inter-country variation. METHODS: National prescribing profiles were determined based on information on sales and indications for prescribing. We sent a questionnaire to academics and drug regulatory agencies in Canada, France, Germany, UK, US and the Nordic countries, asking about explanations for differences in prescribing patterns in their country compared with the other countries. We also conducted telephone interviews with medical directors of drug companies in the UK and Norway, the countries with the largest differences in prescribing patterns. RESULTS: There is considerable variation in prescribing patterns. In the UK thiazides account for 25% of consumption, while the corresponding figure for Norway is 6%. In Norway alpha-blocking agents account for 8% of consumption, which is more than twice the percentage found in any of the other countries. Suggested factors to explain inter-country variation included reimbursement policies, traditions, opinion leaders with conflicts of interests, domestic pharmaceutical production, and clinical practice guidelines. The medical directors also suggested hypotheses that: Norwegian physicians are early adopters of new interventions while the British are more conservative; there are many clinical trials conducted in Norway involving many general practitioners; there is higher cost-awareness among physicians in the UK, in part due to fund holding; and there are publicly funded pharmaceutical advisors in the UK. CONCLUSION: Two compelling explanations the variation in prescribing that warrant further investigation are the promotion of less-expensive drugs by pharmaceutical advisors in UK and the promotion of more expensive drugs through "seeding trials" in Norway

Body size and thyroid cancer in two million Norwegian men and women

We investigated relations between measured body mass index (BMI) and stature and thyroid cancer (3046 cases) in a large Norwegian cohort of more than two million individuals. The risk of thyroid cancer, especially of the papillary and follicular types, increased moderately with increasing BMI and height in both sexes

Physiological aspects of the determination of comprehensive arterial inflows in the lower abdomen assessed by Doppler ultrasound

Non-invasive measurement of splanchnic hemodynamics has been utilized in the clinical setting for diagnosis of gastro-intestinal disease, and for determining reserve blood flow (BF) distribution. However, previous studies that measured BF in a "single vessel with small size volume", such as the superior mesenteric and coeliac arteries, were concerned solely with the target organ in the gastrointestinal area, and therefore evaluation of alterations in these single arterial BFs under various states was sometimes limited to "small blood volumes", even though there was a relatively large change in flow. BF in the lower abdomen (BFAb) is potentially a useful indicator of the influence of comprehensive BF redistribution in cardiovascular and hepato-gastrointestinal disease, in the postprandial period, and in relation to physical exercise. BFAb can be determined theoretically using Doppler ultrasound by subtracting BF in the bilateral proximal femoral arteries (FAs) from BF in the upper abdominal aorta (Ao) above the coeliac trunk. Prior to acceptance of this method of determining a true BFAb value, it is necessary to obtain validated normal physiological data that represent the hemodynamic relationship between the three arteries. In determining BFAb, relative reliability was acceptably high (range in intra-class correlation coefficient: 0.85-0.97) for three arterial hemodynamic parameters (blood velocity, vessel diameter, and BF) in three repeated measurements obtained over three different days. Bland-Altman analysis of the three repeated measurements revealed that day-to-day physiological variation (potentially including measurement error) was within the acceptable minimum range (95% of confidence interval), calculated as the difference in hemodynamics between two measurements. Mean BF (ml/min) was 2951 ± 767 in Ao, 316 ± 97 in left FA, 313 ± 83 in right FA, and 2323 ± 703 in BFAb, which is in agreement with a previous study that measured the sum of BF in the major part of the coeliac, mesenteric, and renal arteries. This review presents the methodological concept that underlies BFAb, and aspects of its day-to-day relative reliability in terms of the hemodynamics of the three target arteries, relationship with body surface area, respiratory effects, and potential clinical usefulness and application, in relation to data previously reported in original dedicated research

Morbidity, Including Fatal Morbidity, throughout Life in Men Entering Adult Life as Obese

Background: The association between obesity in adults and excess morbidity and mortality is well established, but the health impact throughout adult life of being obese in early adulthood needs elucidation. We investigated somatic morbidity, including fatal morbidity, throughout adulthood in men starting adult life as obese. Methods: Among 362,200 Danish young men, examined for military service between 1943 and 1977, all obese (defined as BMI$31.0 kg/m 2), and, as controls, a random 1 % sample of the others was identified. In the age range of 18–25 years, there were 1,862 obese, which encompass the men above the 99.5 percentile, and 3,476 controls. Information on morbidity was obtained via national registers. Cox regression models were used to estimate the relative morbidity assessed as first incidence of disease, occurrence of disease in the year preceding death and prevalent disease at time of death. Results: From age 18 through 80 years the obese had an increased risk of becoming diseased by or die from a broad range of diseases. Generally, the incidence of first event, occurrence in the year prior to death, and prevalence at time of death showed the same pattern. As an example, the relative hazard of type 2 diabetes was constant throughout life at 4.9 (95% confidence intervals [CI]: 4.1–5.9), 5.2 (95 % CI: 3.6–7.5), and 6.8 (95 % CI: 4.6–10.1), respectively. Conclusions: Our findings strongly support the continued need to avoid beginning adult life as obese, as obese young me

Tankyrase inhibition sensitizes melanoma to PD-1 immune checkpoint blockade in syngeneic mouse models

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The Impact of Realistic Age Structure in Simple Models of Tuberculosis Transmission

Background : Mathematical models of tuberculosis (TB) transmission have been used to characterize disease dynamics, investigate the potential effects of public health interventions, and prioritize control measures. While previous work has addressed the mathematical description of TB natural history, the impact of demography on the behaviour of TB models has not been assessed. Methods : A simple model of TB transmission, with alternative assumptions about survivorship, is used to explore the effect of age structure on the prevalence of infection, disease, basic reproductive ratio and the projected impact of control interventions. We focus our analytic arguments on the differences between constant and exponentially distributed lifespans and use an individual-based model to investigate the range of behaviour arising from realistic distributions of survivorship. Results : The choice of age structure and natural (non-disease related) mortality strongly affects steady-state dynamics, parameter estimation and predictions about the effectiveness of control interventions. Since most individuals infected with TB develop an asymptomatic latent infection and never progress to active disease, we find that assuming a constant mortality rate results in a larger reproductive ratio and an overestimation of the effort required for disease control in comparison to using more realistic age-specific mortality rates. Conclusions : Demographic modelling assumptions should be considered in the interpretation of models of chronic infectious diseases such as TB. For simple models, we find that assuming constant lifetimes, rather than exponential lifetimes, produces dynamics more representative of models with realistic age structure