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
Javaid, M.K.; Mordenti, M.; Boarini, M.; Sangiorgi, L.; Group, E.B.W.; Westerheim, I.; ... ; Grasemann, C. 2021
Background Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. Recruitment... Show moreBackground Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. Recruitment and long-term participation in registries are key challenges for researchers. Methods To understand the user needs, the European Reference Network on Rare Bone Diseases (ERN BOND) and European Patient Advocacy Groups developed and implemented a multinational survey about the patient's preferred database content and functionality through an iterative consensus process. The survey was disseminated by national and international patient groups and healthcare professionals. The findings were analysed using descriptive statistics and multivariate regression. Results There were 493 eligible responses from 378 adults, 15 children and 100 parents, guardians or carers (PGC) across 22 rare bone and mineral conditions. Osteogenesis imperfecta constituted 53.4% of responses. Contents related to improving treatment and medical services scored the highest and contents about anxiety and socializing scored less highly. Additional content was recommended by 205 respondents. Respondents preferred data entry by their Healthcare Provider (HCP). However, less than 50% of adults received followup from their specialist HCP at least annually and 29% were followed up as needed. Conclusions This survey of individuals, their family, guardians and carers has prioritised the key components for an EU-based rare bone and mineral condition research database. The survey highlights issues around collecting psychosocial impacts as well as measures of HCP trust. The survey demonstrated that using only specialist centre visits for data collection, while preferred by patients, will miss a substantial number of individuals, limiting generalisability. Combined HCP and patient platforms will be required to collect representative and complete natural history data for this patient group. 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
Background: In patients with active cancer and atrial fibrillation (AF) anticoagulation, thrombotic and bleeding risk still entail uncertainty.Aim: We explored the results of an international... Show moreBackground: In patients with active cancer and atrial fibrillation (AF) anticoagulation, thrombotic and bleeding risk still entail uncertainty.Aim: We explored the results of an international survey examining the knowledge and behaviours of a large group of physicians.Methods and results: A web-based survey was completed by 960 physicians (82.4% cardiologists, 75.5% from Europe). Among the currently available anticoagulants for stroke prevention in patients with active cancer, direct oral anticoagulants (DOACs) were preferred by 62.6%, with lower values for low molecular weight heparin (LMWH) (24.1%) and for warfarin (only 7.3%). About 46% of respondents considered that DOACs should be used in all types of cancers except in non-operable gastrointestinal cancers. The lack of controlled studies on bleeding risk (33.5% of respondents) and the risk of drug interactions (31.5%) were perceived as problematic issues associated with use of anticoagulants in cancer. The decision on anticoagulation involved a cardiologist in 27.8% of cases, a cardiologist and an oncologist in 41.1%, and a team approach in 21.6%. The patient also was involved in decision-making, according to similar to 60% of the respondents. For risk stratification, use of CHA2DS2-VASc and HAS-BLED scores was considered appropriate, although not specifically validated in cancer patients, by 66.7% and 56.4%, respectively.Conclusion: This survey highlights that management of anticoagulation in patients with AF and active cancer is challenging, with substantial heterogeneity in therapeutic choices. Direct oral anticoagulants seems having an emerging role but still the use of LMWH remains substantial, despite the absence of long-term data on thromboprophylaxis in AF. Show less
Purpose: To assess current perceptions, practices and education needs pertaining to artificial intelligence (AI) in the medical physics field.Methods: A web-based survey was distributed to the... Show morePurpose: To assess current perceptions, practices and education needs pertaining to artificial intelligence (AI) in the medical physics field.Methods: A web-based survey was distributed to the European Federation of Organizations for Medical Physics (EFOMP) through social media and email membership list. The survey included questions about education, personal knowledge, needs, research and professionalism around AI in medical physics. Demographics information were also collected. Responses were stratified and analysed by gender, type of institution and years of experience in medical physics. Statistical significance (p < 0.05) was assessed using paired t-test.Results: 219 people from 31 countries took part in the survey. 81% (n = 177) of participants agreed that AI will improve the daily work of Medical Physics Experts (MPEs) and 88% (n = 193) of respondents expressed the need for MPEs of specific training on AI. The average level of AI knowledge among participants was 2.3 +/- 1.0 (mean +/- standard deviation) in a 1-to-5 scale and 96% (n = 210) of participants showed interest in improving their AI skills. A significantly lower AI knowledge was observed for female participants (2.0 +/- 1.0), compared to male responders (2.4 +/- 1.0). 64% of participants indicated that they are not involved in AI projects. The percentage of female leading AI projects was significantly lower than the male counterparts (3% vs 19%).Conclusions: AI was perceived as a positive resource to support MPEs in their daily tasks. Participants demonstrated a strong interest in improving their current AI-related skills, enhancing the need for dedicated training for MPEs. Show less
Hilberdink, B.; Giesen, F. van der; Vlieland, T.V.; Weely, S. van 2020
Supervised group exercise (SGE) is recommended for people with axial spondyloarthritis (axSpA). Recent literature suggests that its contents and dosage must probably be revised. As a first step... Show moreSupervised group exercise (SGE) is recommended for people with axial spondyloarthritis (axSpA). Recent literature suggests that its contents and dosage must probably be revised. As a first step towards renewal, this study examined the current SGE organisation and content for people with axSpA in The Netherlands. A pen-and-paper survey was sent to the boards of the 82 local patient associations affiliated with the Dutch Arthritis Society in 2016. One member of each board was asked to complete questions on the nature and organisation of SGE and one of the supervising therapists to complete questions on the SGE supervision and contents. The questionnaire was returned by representatives of 67/82 (82%) local patient associations, of which 17 (25%) provided axSpA-specific SGE (16/17 SGE programmes with both land-based exercise and hydrotherapy and 1/17 with only hydrotherapy). These involved in total 56 groups with 684 participants and 59 supervisors, of whom 54 were physical therapists and 21 had had postgraduate education on rheumatic and musculoskeletal diseases (RMDs). Besides mobility and strengthening exercises and sports (17/17), most programmes included aerobic exercise (10/17), but rarely with heart rate monitoring (1/17), patient education (8/17), periodic assessments (2/17), or exercise personalisation (1/17). In the Netherlands, a quarter of local patient associations organised axSpA-specific SGE, mostly containing land-based exercises combined with sports and hydrotherapy. Most supervisors lacked postgraduate education on RMDs and most programmes lacked intensity monitoring, patient education, periodic assessments, and personalisation, which are needed for optimising exercise programmes according to current scientific insights. Show less
Brouns, B.; Bodegom-Vos, L. van; Kloet, A. de; Vlieland, T.P.M.V.; Gil, I.L.C.; Souza, L.M.N.; ... ; Meesters, J.J.L. 2020
Background To improve the use of eRehabilitation after stroke, the identification of barriers and facilitators influencing this use in different healthcare contexts around the world is needed.... Show moreBackground To improve the use of eRehabilitation after stroke, the identification of barriers and facilitators influencing this use in different healthcare contexts around the world is needed. Therefore, this study aims to investigate differences and similarities in factors influencing the use of eRehabilitation after stroke among Brazilian Healthcare Professionals (BHP) and Dutch Healthcare Professionals (DHP). Method A cross-sectional survey study including 88 statements about factors related to the use of eRehabilitation (4-point Likert scale; 1-4; unimportant-important/disagree-agree). The survey was conducted among BHP and DHP (physical therapists, rehabilitating physicians and psychologists). Descriptive statistics were used to analyse differences and similarities in factors influencing the use of eRehabilitation. Results ninety-nine (response rate 30%) BHP and 105 (response rate 37%) DHP participated. Differences were found in the top-10 most influencing statements between BHP and DHP BHP rated the following factors as most important: sufficient support from the organisation (e.g. the rehabilitation centre) concerning resources and time, and potential benefits of the use of eRehabilitation for the patient. DHP rated the feasibility of the use of eRehabilitation for the patient (e.g. a helpdesk and good instructions) as most important for effective uptake. Top-10 least important statements were mostly similar; both BHP and DHP rated problems caused by stroke (e.g. aphasia or cognitive problems) or problems with resources (e.g. hardware and software) as least important for the uptake of eRehabilitation. Conclusion The results indicate that the use of eRehabilitation after stroke by BHP and DHP is influenced by different factors. A tailored implementation strategy for both countries needs to be developed. Show less
Willems, S.A.; Kranenburg, F.J.; Cessie, S. le; Marang-van de Mheen, P.J.; Kesecioglu, J.; Bom, J.G. van der; Arbous, M.S. 2020
Introduction: Standardization of voice outcomes indicators (VOIs) is an important issue when it comes to evaluating and comparing surgical treatments for Unilateral Vocal Fold Paralysis (UVFP). In... Show moreIntroduction: Standardization of voice outcomes indicators (VOIs) is an important issue when it comes to evaluating and comparing surgical treatments for Unilateral Vocal Fold Paralysis (UVFP). In a recent review, 11 VOIs were found to represent 80% of the VOIs cited in the literature. A survey was launched among the European laryngologists to acquire surgeons' opinions on the above mentioned preselected VOIs.Material and method: The electronic survey took place between November and December 2016. Three general questions were asked about surgeon's practice setting(s) and experience. The eleven next questions concerned (a) surgeon's VOIs preference and (b) their estimates of post-operative target values, they would consider being satisfactory.Results: The response rate was 16% (50 surveys). The majority of responders worked in tertiary hospitals (50%), had 15 years of experience with UVFP and performed on average 20 UVFP related procedures a year. The VOIs that were favored by the responding surgeons were, in decreasing order of importance, Voice handicap Index (VHI-30), Maximum Phonation Time (MPT), GRBAS-I, Mean Airflow Rate (MeAF), Jitter and Shimmer. There was an excellent consensus on post-operative VOI target values between survey's results and the literature data, except for three VOIs that showed somewhat divergent tendencies (absolute VHI-30, Jitter and Shimmer).Conclusions: Three VOIs are favored by surgeons: VHI-30, MPT and GRBAS-I. Jitter and Shimmer, although very frequently reported and statistically valid in the literature, come last concerning surgeon's choice as VOI for UVFP treatment assessment. (C) 2019 Elsevier Masson SAS. All rights reserved. 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
Borm, C.D.J.M.; Werkmann, M.; Visser, F.; Peball, M.; Putz, D.; Seppi, K.; ... ; Vries, N.M. de 2019
