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
Youssef, A.; Lashley, E.E.L.O.; Vermeulen, N.; Hoorn, M.L.P. van der 2023
BackgroundPractice variation in recurrent pregnancy loss (RPL) care is common. International guidelines vary in their recommendations for the management of RPL couples, which could lead to an... Show moreBackgroundPractice variation in recurrent pregnancy loss (RPL) care is common. International guidelines vary in their recommendations for the management of RPL couples, which could lead to an increase of cross border reproductive care. Currently, the Dutch RPL guideline is being adapted from the European Society for Human Reproduction and Embryology (ESHRE) guideline. We aim to identify discrepancies between RPL guidelines and RPL practice. These discrepancies could be considered in the development of a new guideline and implementation strategies to promote adherence to new recommendations.MethodsA nationwide survey on the management of RPL patients was conducted across all 107 hospital-based obstetrics and gynaecology practices in the Netherlands. The survey was sent via the Dutch Society for Obstetricians and Gynaecologists to all affiliated clinicians. The questionnaire consisted of 36 questions divided in four sections: clinician's demographics, RPL definition, investigations and therapy. The data were compared to the recommendations given by the Dutch national guideline and the most recent guideline of the ESHRE.ResultsAll hospital-based practices (100%; n = 107) filled in the online questionnaire. The majority of respondents defined RPL similarly, as two or more pregnancy losses (87.4%), not obligatory consecutive (93.1%). More than half of respondents routinely perform thrombophilia screening ( 58%), although not advised by the ESHRE, while thyroid function (57%), thyroid auto-immunity (27%) and & beta;2-glycoprotein antibodies (42%) in the context of antiphospholipid syndrome (APS) are recommended but investigated less often. Regarding parental karyotyping, 20% of respondents stated they always perform parental karyotyping, without prior risk assessment. because of RPL. Treatment for hereditary thrombophilia was frequently (43.8% (n = 137)) prescribed although not recommended. And finally, a considerable part (12-16%) of respondents prescribe medication in case of unexplained RPL.ConclusionWhile many clinicians perform investigations recommended by the ESHRE, there is a considerable variation of RPL practice in the Netherlands. We identified discrepancies between RPL guidelines and RPL practice, providing possibilities to focus on multifaceted implementation strategies, such as educational intervention, local consensus processes and auditing and feedback. This will improve the quality of care provided to RPL patients and may diminish the necessity felt by patients to turn to multiple opinions or cross border reproductive care. Show less
BackgroundChronic nonbacterial osteomyelitis (CNO) is a rare, and impactful auto-inflammatory bone disease occurring in children and adults. Clinical care for CNO is challenging, as the condition... Show moreBackgroundChronic nonbacterial osteomyelitis (CNO) is a rare, and impactful auto-inflammatory bone disease occurring in children and adults. Clinical care for CNO is challenging, as the condition lacks validated classification criteria and evidence-based therapies. This study aimed to map the current diagnostic and therapeutic practices for CNO in adults, as a first step towards a standardized disease definition and future consensus treatment plans.MethodsA primary survey was spread among global rheumatological/bone networks and 57 experts as identified from literature (May 2022), covering terminology, diagnostic tools (clinical, radiological, biochemical) and treatment steps. A secondary survey (sent to primary survey responders in August 2022) further queried key diagnostic features, treatment motivations, disease activity and treatment response monitoring.Results36 and 23 physicians completed the primary and secondary survey respectively. Diagnosis was mainly based on individual physician assessment, in which the combination of chronic relapsing-remitting bone pain with radiologically-proven osteitis/osteomyelitis, sclerosis, hyperostosis and increased isotope uptake on bone scintigraphy were reported indicative of CNO. Physicians appeared more likely to refer to the condition as synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome in the presence of joint and skin pathology. MRI was most frequently performed, and the preferred diagnostic test for 47%. X-rays were second-most frequently used, although considered least informative of all available tools. Typical imaging features reported were hyperostosis, osteitis, osteosclerosis, bone marrow edema, while degeneration, soft tissue calcification, and ankylosis were not regarded characteristic. Inflammation markers and bone markers were generally regarded unhelpful for diagnostic and monitoring purposes and physicians infrequently performed bone biopsies. Management strategies diverged, including indications for treatment, response monitoring and declaration of remission. Step-1 treatment consisted of non-steroidal anti-inflammatory drugs/COX-2 inhibitors (83%). Common step 2-3 treatments were pamidronate, methotrexate, and TNF-a-inhibition (anti-TNF & alpha;), the latter two regarded especially convenient to co-target extra-skeletal inflammation in SAPHO syndrome. Overall pamidronate and anti-TNF & alpha; and were considered the most effective treatments.ConclusionsFollowing from our survey data, adult CNO is a broad and insufficiently characterized disease spectrum, including extra-osseous features. MRI is the favoured imaging diagnostic, and management strategies vary significantly. Overall, pamidronate and anti-TNF & alpha; are regarded most successful. The results lay out current practices for adult CNO, which may serve as backbone for a future consensus clinical guideline. Show less
Mazepus, H.; Laustsen, L.; Van Leeuwen, F.; Bartusevičius, H.; Vugt, M. van 2022
Das zentrale Kapitel Feldmethoden liefert einen Überblick über das breite Methodenspektrum, das während geoarchäologischer Forschungskampagnen im Gelände zum Einsatz kommt. Beschrieben werden... Show moreDas zentrale Kapitel Feldmethoden liefert einen Überblick über das breite Methodenspektrum, das während geoarchäologischer Forschungskampagnen im Gelände zum Einsatz kommt. Beschrieben werden zunächst klassische Methoden wie Bohrungen, archäologische Grabungen und Baggerschürfe,gefolgt von der damit mittlerweile häufig kombinierten, jungen Methode der Direct-Push-Sondierung, womit gleichzeitige Messungen unterschiedlicher Parameter wie Spitzendruck, Farbe oder elektrischer Leitfähigkeit möglich sind. Dazugehörige Infoboxen befassen sich mit einem Beispiel aus der Feuchtbodenarchäologie und mit dem wichtigen Thema der langfristigen Probenarchivierung. Der Abschnitt Fernerkundung führt in die Geschichte und in die aktuelle Praxis der Methodik ein und befasstsich mit dem Potenzial von Luftbildern und räumlichen Satellitendaten. Das in einem weiteren Abschnitt vorgestellte Konzept der „Digitalen Geoarchäologie“ bewegt sich an der Schnittstelle zwischen Archäologie, Geo- und Computerwissenschaften. Weiterhin werden häufig eingesetzte geophysikalischeMethoden, wie Geoelektrik, Geomagnetik und Georadar vorgestellt. Am Kapitelende geht es um das Potenzial archäologischer Zeigerpflanzen und ihrer Bedeutung für die archäologische Prospektion. Show less
Laws regulate behaviour. However, human beings do not always obey the law. This makes it important to identify how law enforcement can stimulate compliance. This thesis investigates multiple gaps... Show moreLaws regulate behaviour. However, human beings do not always obey the law. This makes it important to identify how law enforcement can stimulate compliance. This thesis investigates multiple gaps in the literature on instrumental and normative pathways to compliance and counters some of the limitations in previous research. It contains three empirical studies that answer the following questions. Do citizens update their perceived sanction risk in response to changes in police activity? Does police behaviour that signals higher quality of treatment or decision-making lead to higher perceived procedural justice? Howdo instrumental and normative motivations translate into greater compliance with traffic laws?All results are based on field research conducted with the help of the Dutch National Police between January and August 2017. During this period data was collected at routine traffic control check-points for mopeds. The combination of data gathered through surveys, structured social observations and an experimental manipulation contributes to a better and more precise understanding of pathways to compliance. Show less
Public knowledge of both the mission and the powers of the National Intelligence Centre (CNI) are studied in this paper through a survey of 2888 students from 30 universities in Spain. The results... Show morePublic knowledge of both the mission and the powers of the National Intelligence Centre (CNI) are studied in this paper through a survey of 2888 students from 30 universities in Spain. The results confirmed that university students were unaware of the CNI’s mission and powers and that their vision of the CNI was of a Law Enforcement Agency with mainly counter-terrorism functions. Their knowledge differed according to their sociodemographic background and political variables. Both the implications for further scientific debate and the policies of intelligence agencies toward openness are discussed. Show less
How does question design regarding non-substantive response options affect survey outcomes? This research question, and specifically the effect of using non-substantive response options – the Don’t... Show moreHow does question design regarding non-substantive response options affect survey outcomes? This research question, and specifically the effect of using non-substantive response options – the Don’t Know option, filter question and follow-up question – on item nonresponse and the substantive overall distribution of opinions was examined by conducting three experiments with three Dutch internet panels (the LISS panel, the EenVandaag Opiniepanel and Team Vier’s internet panel). The effect of offering a non-substantive response option is that item nonresponse changes, but not the resulting picture of public opinion in terms of majorities or pluralities. The effect of a non-substantive response option for substantively different issues was expected to vary per the relation to a major political dimension (resulting in less item nonresponse) or to foreign policy issues (resulting in more nonresponse). The results were mixed; more research is needed to differentiate between question content. The follow-up question, which differentiates between permissive and directive opinions, resulted in about two-third of the respondents expressing a directive opinion, which was more than expected. The main recommendation is to start including the most basic non-substantive response option, the explicit Don’t Know option, as a response category for opinion questions. Show less
En la historiografía y la arqueología dominicana la trascendencia de la región norte ha estado tradicionalmente ligada a su condición de escenario de importantes acontecimientos vinculados con los... Show moreEn la historiografía y la arqueología dominicana la trascendencia de la región norte ha estado tradicionalmente ligada a su condición de escenario de importantes acontecimientos vinculados con los inicios de la colonización europea (Arranz Marquez 1991; Cassa 1992; Deagan y Cruxent 2002; Guerrero y Veloz Maggiolo 1988; Ortega 1988; Wilson 1992). Al margen de los aportes que esa visión ha generado, la misma ha contribuido a trazar esquemas importantes en los estudios arqueológicos, sobre todo, al incidir en la prioridad de ciertos temas; la forma en que estos han sido abordados, así como los escenarios propicios para su investigación. En este artículo revisamos algunas de estas nociones y proporcionamos evidencias para entender la conquista del norte, principalmente desde la perspectiva indígena. Show less
As the de facto industry standard for software modeling, the Unified Modeling Language (UML) is used widely across various IT domains. UML__s wide acceptance is partly because the language offers... Show moreAs the de facto industry standard for software modeling, the Unified Modeling Language (UML) is used widely across various IT domains. UML__s wide acceptance is partly because the language offers flexibility and freedom in modeling software systems: 1) UML provides an extensive set of modeling notations that can be used to model various concepts; 2) UML can be used both in a casual and formal manners. In the context of model-driven software development, the degree of freedom in which UML is used raises an important issue related to model quality. Different styles and rigors in using UML affect the quality of the resulting models. It is then logical to think that the level of quality of the UML model may affect the quality of the resulting software. This thesis reports on a series of empirical studies performed to address a pivotal question concerning the benefits of UML modeling in software development, particularly from a quality perspective. The results of these empirical studies show that the use of UML provides benefits in terms of increased quality and productivity in software development. The availability of UML models also allows early prediction of defects in software systems. Such prediction is potentially useful for identifying and fixing defects early during software development, and for prioritizing testing. Show less
