Background: knowledge on the natural history of rare diseases is necessary to improve outcomes. Disease registries may play a key role in covering these unmet needs in the rare bone and mineral... Show moreBackground: knowledge on the natural history of rare diseases is necessary to improve outcomes. Disease registries may play a key role in covering these unmet needs in the rare bone and mineral community.Objective: to map existing bone and mineral conditions registries in Europe and their characteristics.Methods: online survey about the use of registries/databases and their characteristics. This survey was disseminated among members of the European Reference Network on Rare Bone Diseases (ERN BOND) and non-ERN experts in the field of bone and mineral conditions as well as patient organisations.Results: sixty-three responses from health care providers (HCPs) and 10 responses from patient groups (PGs) were collected. The response rate for ERN BOND members was 55%. Of 63 HCPs, 37 declared using a registry. Osteogenesis imperfecta (OI) was the most registered condition. We mapped 3 international registries, all were disease-specific.Conclusions: There is a need for developing a common high-quality platform for registering rare bone and mineral conditions. Show less
To compare hospitals' hip fracture patient mortality in a quality of care registry, correction for patient characteristics is needed. This study evaluates in 39,374 patients which characteristics... Show moreTo compare hospitals' hip fracture patient mortality in a quality of care registry, correction for patient characteristics is needed. This study evaluates in 39,374 patients which characteristics are associated with 30 and 90-day mortality, and showed how using these characteristics in a case mix-model changes hospital comparisons within the Netherlands. Purpose: Mortality rates after hip fracture surgery are considerable and may be influenced by patient characteristics. This study aims to evaluate hospital variation regarding patient demographics and disease burden, to develop a case-mix adjustment model to analyse differences in hip fracture patients' mortality to calculate case-mix adjusted hospital-specific mortality rates. Methods: Data were derived from 64 hospitals participating in the Dutch Hip Fracture Audit (DHFA). Adult hip fracture patients registered in 2017-2019 were included. Variation of case-mix factors between hospitals was analysed, and the association between case-mix factors and mortality at 30 and 90 days was determined through regression models. Results: There were 39,374 patients included. Significant variation in case-mix factors amongst hospitals was found for age >= 80 (range 25.8-72.1% p < 0.001), male gender (12.0-52.9% p < 0.001), nursing home residents (42.0-57.9% p < 0.001), pre-fracture mobility aid use (9.9-86.7% p < 0,001), daily living dependency (27.5-96.5% p < 0,001), ASA-class >= 3 (25.8-83.3% p < 0.001), dementia (3.6-28.6% p < 0.001), osteoporosis (0.0-57.1% p < 0.001), risk of malnutrition (0.0-29.2% p < 0.001) and fracture types (all p < 0.001). All factors were associated with 30- and 90-day mortality. Eight hospitals showed higher and six showed lower 30-day mortality than expected based on their case-mix. Six hospitals showed higher and seven lower 90-day mortality than expected. The specific outlier hospitals changed when correcting for case-mix factors. Conclusions: Dutch hospitals show significant case-mix variation regarding hip fracture patients. Case-mix adjustment is a prerequisite when comparing hospitals' 30-day and 90-day hip fracture patients' mortality. Adjusted mortality may serve as a starting point for improving hip fracture care. Show less
From 1999 to 2004, 639 Nasca geoglyphs near Palpa, south Peru, were recorded in the framework of the PhD project of Karsten Lambers. Aided by Martin Sauerbier, he created a database containing... Show moreFrom 1999 to 2004, 639 Nasca geoglyphs near Palpa, south Peru, were recorded in the framework of the PhD project of Karsten Lambers. Aided by Martin Sauerbier, he created a database containing detailed descriptions of all geoglyphs and produced a virtual flight over the geoglyphs.The PhD project was part of the Nasca-Palpa Archaeological Project directed by Markus Reindel (DAI-KAAK, Bonn) and Johny Isla (INDEA, Lima). This project studied the societies of Paracas and Nasca in the northern part of the Nasca basin in south Peru from a variety of perspectives and from the Pacific coast up to the Andean highlands. Apart from a regional settlement survey and excavations at important sites dating from all pre-hispanic periods, the study of the geoglyphs was a key part of the project. In collaboration with Armin Gruen (ETH Zurich), the geoglyphs were photogrammetrically recorded and modelled in 3D, as a basis for their archaeological documentation and analysis. This resulted in the first comprehensive database of geoglyphs of a sub-region of the Nasca basin and shed new light on the origin, development, and social and cultural significance of the geoglyph phenomenon over time. Show less
Background The Coronavirus disease 2019 (COVID-19) pandemic has underlined the urgent need for reliable, multicenter, and full-admission intensive care data to advance our understanding of the... Show moreBackground The Coronavirus disease 2019 (COVID-19) pandemic has underlined the urgent need for reliable, multicenter, and full-admission intensive care data to advance our understanding of the course of the disease and investigate potential treatment strategies. In this study, we present the Dutch Data Warehouse (DDW), the first multicenter electronic health record (EHR) database with full-admission data from critically ill COVID-19 patients. Methods A nation-wide data sharing collaboration was launched at the beginning of the pandemic in March 2020. All hospitals in the Netherlands were asked to participate and share pseudonymized EHR data from adult critically ill COVID-19 patients. Data included patient demographics, clinical observations, administered medication, laboratory determinations, and data from vital sign monitors and life support devices. Data sharing agreements were signed with participating hospitals before any data transfers took place. Data were extracted from the local EHRs with prespecified queries and combined into a staging dataset through an extract-transform-load (ETL) pipeline. In the consecutive processing pipeline, data were mapped to a common concept vocabulary and enriched with derived concepts. Data validation was a continuous process throughout the project. All participating hospitals have access to the DDW. Within legal and ethical boundaries, data are available to clinicians and researchers. Results Out of the 81 intensive care units in the Netherlands, 66 participated in the collaboration, 47 have signed the data sharing agreement, and 35 have shared their data. Data from 25 hospitals have passed through the ETL and processing pipeline. Currently, 3464 patients are included in the DDW, both from wave 1 and wave 2 in the Netherlands. More than 200 million clinical data points are available. Overall ICU mortality was 24.4%. Respiratory and hemodynamic parameters were most frequently measured throughout a patient's stay. For each patient, all administered medication and their daily fluid balance were available. Missing data are reported for each descriptive. Conclusions In this study, we show that EHR data from critically ill COVID-19 patients may be lawfully collected and can be combined into a data warehouse. These initiatives are indispensable to advance medical data science in the field of intensive care medicine. Show less
Research on terrorism has long been criticized for its inability to overcome enduring methodological issues. These include an overreliance on secondary sources and the associated literature review... Show moreResearch on terrorism has long been criticized for its inability to overcome enduring methodological issues. These include an overreliance on secondary sources and the associated literature review methodology, a scarcity of statistical analyses, a tendency for authors to work alone rather than collaborate with colleagues, and the large number of one-time contributors to the field. However, the reviews that have brought these issues to light describe the field as it developed until 2007. This article investigates to what extent these issues have endured in the 2007–2016 period by constructing a database on all of the articles published in nine leading journals on terrorism (N = 3442). The results show that the use of primary data has increased considerably and is continuing to do so. Scholars have also begun to adapt a wider variety of data-gathering techniques, greatly diminishing the overreliance on literature reviews that was noted from the 1980s through to the early 2000s. These positive changes should not obscure enduring issues. Despite improvements, most scholars continue to work alone and most authors are one-time contributors. Overall, however, the field of terrorism studies appears to have made considerable steps towards addressing long-standing issues. Show less
Roux, B. le; Lenaers, G.; Zanlonghi, X.; Amati-Bonneau, P.; Chabrun, F.; Foulonneau, T.; ... ; Ferre, M. 2019
Background The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The... Show moreBackground The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 (), created in 2005, has now evolved towards a centralized and more reliable database using the Global Variome shared Leiden Open-source Variation Database (LOVD) installation. Results The updated OPA1 database, which registers all the patients from our center as well as those reported in the literature, now covers a total of 831 patients: 697 with isolated dominant optic atrophy (DOA), 47 with DOA "plus", and 83 with asymptomatic or unclassified DOA. It comprises 516 unique OPA1 variants, of which more than 80% (414) are considered pathogenic. Full clinical data for 118 patients are documented using the Human Phenotype Ontology, a standard vocabulary for referencing phenotypic abnormalities. Contributors may now make online submissions of phenotypes related to OPA1 mutations, giving clinical and molecular descriptions together with detailed ophthalmological and neurological data, according to an international thesaurus. Conclusions The evolution of the OPA1 database towards the LOVD, using unified nomenclature, should ensure its interoperability with other databases and prove useful for molecular diagnoses based on gene-panel sequencing, large-scale mutation statistics, and genotype-phenotype correlations. Show less
The European Database Directive introduced a new protection regime for database producers in 1996. This was to complement the already existing copyright protection for collections. This new sui... Show moreThe European Database Directive introduced a new protection regime for database producers in 1996. This was to complement the already existing copyright protection for collections. This new sui generis right offers protection to producers who undertake a substantial investment in the production of a database. Even though it was presented as a unique right without precedent, its scope closely resembles an intellectual property right, while its rationale __ preventing misappropriation of another__s investment __ is related to the tenet of unfair competition. The sui generis right is the main focus of this book. Its most important concepts are extensively discussed, such as the criterion of the substantial investment, the definition of the producer, and the scope of the sui generis right. For this, a comparative study is made of the literature and case law of the Netherlands, France and the United Kingdom. Particular attention is paid to the important judgments which the European Court of Justice delivered on the sui generis right in November 2004. Furthermore, consideration is given to the (re)introduction of a compulsory licensing regime to ward off information monopolies. The book ends with a conclusion which contains proposals for a review of the Database Directive. Show less
