Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the ...best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database ( http://fmf.igh.cnrs.fr/ISSAID/infevers ) is a large international registry collecting variants reported in these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation. The aim of this study is to develop a registry of genotype-phenotype associations observed in patients with HRF, enrolled and validated in the Eurofever registry.
Genotype-phenotype associations observed in all the patients with HRF enrolled in the Eurofever registry were retrospectively analyzed. For autosomal dominant diseases (CAPS and TRAPS), all mutations were individually analyzed. For autosomal recessive diseases (FMF and MKD), homozygous and heterozygous combinations were described. Mean age of onset, disease course (recurrent or chronic), mean duration of fever episodes, clinical manifestations associated with fever episodes, atypical manifestations, complications and response to treatment were also studied. Data observed in 751 patients (346 FMF, 133 CAPS, 114 MKD, 158 TRAPS) included in the Eurofever registry and validated by experts were summarized in Tables. A total of 149 variants were described: 46 TNFRSF1A and 27 NLRP3 variants, as well as various combinations of 48 MVK and 28 MEFV variants were available.
We provide a potentially useful tool for physicians dealing with HRF, namely a registry of genotype-phenotype associations for patients enrolled in the Eurofever registry. This tool is complementary to the Infevers database and will be available at the Eurofever and Infevers websites.
To characterize and describe clinical experience with childhood-onset non-infectious uveitis.
A multicenter retrospective multidisciplinary national web-based registry of 507 patients from 21 ...hospitals was analyzed. Cases were grouped as immune disease-associated (IMDu), idiopathic (IDIu) or ophthalmologically distinct. Characteristics of juvenile idiopathic arthritis-associated (non-HLA-B27-related) uveitis (JIAu), IDIu, and pars planitis (PP) were compared.
IMDu (62.3%) and JIAu (51.9%) predominated in young females; and IDIu (22.7%) and PP (13.6%) in older children, without sex imbalance. Ocular complications occurred in 45.3% of cases (posterior synechiae 28%, cataracts 16%, band keratopathy 14%, ocular hypertension 11% and cystoid macular edema 10%) and were associated with synthetic (86%) and biologic (65%) disease-modifying antirheumatic drug (DMARD) use. Subgroups were significantly associated (
< 0.05) with different characteristics. JIAu was typically anterior (98%), insidious (75%), in ANA-positive (69%), young females (82%) with fewer complications (31%), better visual outcomes, and later use of uveitis-effective biologics. In contrast, IDIu was characteristically anterior (87%) or panuveitic (12.1%), with acute onset (60%) and more complications at onset (59%: synechiae 31% and cataracts 9.6%) and less DMARD use, while PP is intermediate, and was mostly bilateral (72.5%), persistent (86.5%) and chronic (86.8%), with more complications (70%; mainly posterior segment and cataracts at last visit), impaired visual acuity at onset, and greater systemic (81.2%), subtenon (29.1%) and intravitreal (10.1%) steroid use.
Prognosis of childhood uveitis has improved in the "biologic era," particularly in JIAu. Early referral and DMARD therapy may reduce steroid use and improve outcomes, especially in PP and IDIu.
IntroductionEHealth can help health service users take a more active role in decision-making and help health professionals guide the patient in this process. A digital tool has been designed to ...support maternal education (ME), and it is organised into four areas: (1) information, (2) communication, (3) health self-management and (4) clinical data. The main objective of the study is to evaluate the effectiveness of the EMAeHealth digital tool, and assess its usability and acceptability under routine conditions.Methods and analysisHybrid implementation-effectiveness design: (1) A cluster randomised, prospective, longitudinal, multicentre clinical trial to evaluate the effectiveness of EMAeHealth in (A) improving health-related quality of life (primary outcome), (B) improving self-efficacy for labour and childbirth and self-efficacy in breast feeding and (C) reducing the number of visits to the obstetric emergency services and health centre in situations of ‘non-pathological pregnancy’, ‘false labour pains’ and ‘non-pathological puerperium’. The EMAeHealth intervention plus usual care will be compared with receiving only usual care, which includes traditional ME. N=1080 participants, 540 for each study arm. Two measurements will be made throughout the pregnancy and three in the first 16 weeks post partum. (2) A mixed-method study to evaluate the usability and acceptability of the tool, barriers and facilitators for its use, and implementation in our health system: focus groups (women, professionals and agents involved) and a quantitative analysis of implementation indicators. Analysis: It will be carried out by intention to treat, using mixed models taking into account the hierarchical structure of the data and per protocol to evaluate the effectiveness of the express use of the digital tool.Ethics and disseminationClinical Research Ethics Committee of Euskadi, Spain, (Ref: PI2020044) approved this study. The results will be actively disseminated through manuscript publications and conference presentations.Trial registration numberNCT04937049.
Abstract
The dominant model of childbirth in most Western countries is medicalized childbirth. Women's beliefs about whether childbirth should be a medicalized process to a greater or lesser degree ...may be related, in addition to contextual factors, to internal factors. The objective of the study is to find out if women’s locus of control (LC) and stress coping strategies (CS) are related to having a more favourable or less favourable attitude towards medicalization (ATMC). A cross-sectional study was carried out with the participation of 248 women recruited in primary care centres by their midwives. All the women filled in answers on a mobile phone app with various different measurement instruments: the questionnaire created by Benyamini to evaluate their ATMC; the Spanish version of the Wallston MLC to evaluate their LC; and the Spanish adaptation of the “Revised Prenatal Coping Inventory (NuPCI)” scale for the assessment of their CS. The women presented a favourable attitude towards medicalization, with a mean ATMC score of 3.42. Both the LC and the CS of women during pregnancy are related to this attitude. Specifically, having an internal LC and using preparative CS both lower the probability of presenting a favourable attitude towards medicalization, while the lack of a paid job raises the probability. For each point in internal locus and preparatory coping, the ATMC score decreased by 0.02 and 0.23 points, respectively, while it increased by 0.18 for not having a paid job. The influence of these psychological factors must be taken into account in the development of content and interventions that promote a more natural birth.
This open access book presents the major outcomes of the fourth edition of the Future of Higher Education – Bologna Process Researchers Conference (FOHE-BPRC 4) which was held in January 2020 and ...which has already established itself as a landmark in the European higher education environment. The conference is part of the official calendar of the European Higher Education Area (EHEA) for events that promote and sustain the development of EHEA. The conference provides a unique forum for dialogue between researchers, experts and policy makers in the field of higher education, all of which is documented in this proceedings volume. The book focuses on the following five sub-themes: - Furthering the Internationalization of Higher Education: Particular - Challenges in the EHEA - Access and Success for Every Learner in Higher Education - Advancing Learning and Teaching in the EHEA: Innovation and Links With Research - The Future of the EHEA - Principles, Challenges and Ways Forward - Bologna Process in the Global Higher Education Arena. Going Digital? While acknowledging the efforts and achievements so far at EHEA level, the Paris Ministerial Communiqué highlights the need to intensify crossdisciplinary and cross-border cooperation. One of the ways to achieve this objective is to develop more efficient peer-learning activities, involving policymakers and other stakeholders from as many member states as possible for which this book provides a platform. It acknowledges the importance of a continued dialogue between researchers and decisionmakers and benefits from the experience already acquired, this way enabling the higher education community to bring its input into the 2020. European Higher Education Area (EHEA) priorities for 2020 onwards. European Higher Education Area: Challenges for a New Decade marks 21 years of Bologna Process and 10 years of EHEA and brings together an unique collection of contributions that not only reflect on all that has been achieved in these years, but more importantly, shape directions for the future. This book is published under an open access CC BY license.
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