Background: There are many clinical prediction models (CPMs) available to inform treatment decisions for patients with cardiovascular disease. However, the extent to which they have been externally... Show moreBackground: There are many clinical prediction models (CPMs) available to inform treatment decisions for patients with cardiovascular disease. However, the extent to which they have been externally tested, and how well they generally perform has not been broadly evaluated. Methods: A SCOPUS citation search was run on March 22, 2017 to identify external validations of cardiovascular CPMs in the Tufts Predictive Analytics and Comparative Effectiveness CPM Registry. We assessed the extent of external validation, performance heterogeneity across databases, and explored factors associated with model performance, including a global assessment of the clinical relatedness between the derivation and validation data. Results: We identified 2030 external validations of 1382 CPMs. Eight hundred seven (58%) of the CPMs in the Registry have never been externally validated. On average, there were 1.5 validations per CPM (range, 0-94). The median external validation area under the receiver operating characteristic curve was 0.73 (25th-75th percentile [interquartile range (IQR)], 0.66-0.79), representing a median percent decrease in discrimination of -11.1% (IQR, -32.4% to +2.7%) compared with performance on derivation data. 81% (n=1333) of validations reporting area under the receiver operating characteristic curve showed discrimination below that reported in the derivation dataset. 53% (n=983) of the validations report some measure of CPM calibration. For CPMs evaluated more than once, there was typically a large range of performance. Of 1702 validations classified by relatedness, the percent change in discrimination was -3.7% (IQR, -13.2 to 3.1) for closely related validations (n=123), -9.0 (IQR, -27.6 to 3.9) for related validations (n=862), and -17.2% (IQR, -42.3 to 0) for distantly related validations (n=717; P<0.001). Conclusions: Many published cardiovascular CPMs have never been externally validated, and for those that have, apparent performance during development is often overly optimistic. A single external validation appears insufficient to broadly understand the performance heterogeneity across different settings. Show less
Peetsold, M.; Goorden, S.; Breuning, M.; Williams, M.; Bakker, J.; Jacobs, E.; ... ; Peeters, C. 2021
Fumarase deficiency (FD) is a rare and severe autosomal disorder, caused by inactivity of the enzyme fumarase, due to biallelic mutations of the fumarase hydratase (FH) gene. Several pathogenic... Show moreFumarase deficiency (FD) is a rare and severe autosomal disorder, caused by inactivity of the enzyme fumarase, due to biallelic mutations of the fumarase hydratase (FH) gene. Several pathogenic mutations have been published. The article describes an infant with failure to thrive, microcephaly, axial hypotonia, and developmental retardation with increased excretion of fumarate, no activity of fumarase and a homozygous mutation of the FH gene, which was until recently only known as a variant of unknown significance. Carriers of pathogenic mutations in the FH gene are at risk for developing renal cell carcinoma and should therefore be screened. Both parents were healthy carriers of the mutation and had decreased levels of enzyme activity. In addition, the article presents an overview and analysis of all cases of FD reported thus far in the literature. Show less
Kuipers, S.L.; Grieken, B.J. van; Asselt, M.B.A. van 2018
This review article maps the shifts and trends in the risk literature regarding particular risk types across the past 30þ years. Not only does it address which hazards and risks receive scholarly... Show moreThis review article maps the shifts and trends in the risk literature regarding particular risk types across the past 30þ years. Not only does it address which hazards and risks receive scholarly attention, but also from which perspective. A similar review on crisis literature (Kuipers & Welsh, 2017) reported that on average only 14 percent of the articles in three crisis and disaster journals pertained explicitly to risk research. Does risk research perhaps pay more attention to crises than the other way around? Our multivariate regression analysis of the different types and themes reveals how some risk types are researched and discussed almost exclusively from a particular angle. Also, the large majority of articles from some perspectives only take a limited variety of risks into account. Mapping risk research indicates not only which topics and themes have received increasing or structural attention but also which ones, or which combination of risk types and perspectives, perhaps deserve more study than they currently receive. Show less
Day, I.N.Z.; Blankenstein, F.M. van; Westenberg, M.; Admiraal, W. 2018
In-course assessment, such as midterms, quizzes or presentations, is often an integral part of higher education courses. These so-called intermediate assessments influence students' final grades.... Show moreIn-course assessment, such as midterms, quizzes or presentations, is often an integral part of higher education courses. These so-called intermediate assessments influence students' final grades. The current review investigates which characteristics of intermediate assessment relate to these grades. In total, 88 articles were reviewed that examined the relationship between intermediate assessment and student grades. Four main characteristics were identified: the use of feedback, whether the assessment is mandatory, who is the assessor, and the reward students get for participating. Results indicate that corrective feedback leads to the most positive results, but elaborate feedback may benefit lower achieving groups. No difference in results was found for mandatory versus voluntary intermediate assessments. Peer assessment seemed to be beneficial, and rewarding students with course credit improves grades more than other rewards. Three scenarios are presented on how teachers can combine the different characteristics to optimise their intermediate assessment. Show less
