International Undiagnosed Diseases Programs (UDPs): components and outcomes

Over the last 15 years, Undiagnosed Diseases Programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases, integrating research and clinical care to optimize diagnostic outcomes. This narrative review summarizes the published literature surrounding Undiagnosed Diseases Programs worldwide, including thirteen studies that evaluate outcomes and two commentary papers. Commonalities in the diagnostic and research process of Undiagnosed Diseases Programs are explored through an appraisal of available literature. This exploration allowed for an assessment of the strengths and limitations of each of the six common steps, namely enrollment, comprehensive clinical phenotyping, research diagnostics, data sharing and matchmaking, results, and follow-up. Current literature highlights the potential utility of Undiagnosed Diseases Programs in research diagnostics. Since participants have often had extensive previous genetic studies, research pipelines allow for diagnostic approaches beyond exome or whole genome sequencing, through reanalysis using research-grade bioinformatics tools and multi-omics technologies. The overall diagnostic yield is presented by study, since different selection criteria at enrollment and reporting processes make comparisons challenging and not particularly informative. Nonetheless, diagnostic yield in an undiagnosed cohort reflects the potential of an Undiagnosed Diseases Program. Further comparisons and exploration of the outcomes of Undiagnosed Diseases Programs worldwide will allow for the development and improvement of the diagnostic and research process and in turn improve the value and utility of an Undiagnosed Diseases Program

The attitudes of European consumers toward innovation in bread; interest of the consumers toward selected quality attributes

16 pages, 7 tables, 4 figures.-- The definitive version is available at www3.interscience.wiley.comThe present survey is integrated in the European project entitled EU-FRESHBAKE. This three years project started in October 2006. It aims at developing innovative processes and innovative formulations for the Bake Off technology taking into consideration, energy demand of the process, nutrition parameters and overall quality of the bread. To help and to advise the project on the expectations of the European consumers toward innovation, a consumer survey has been carried out taking into consideration 1050 consumers from 5 countries (Belgium, Croatia, Spain, France and Poland). The global objectives are (i) to better understand the attitudes of the European innovations in bread and (ii) to understand the main determinants of it. Globally the key points that arose from the survey were the environmental concern and the concern regarding health; these two aspects seem to steer the attitudes of the consumer. Basically, two categories of consumers were observed; (i) frequent (daily) buyers with a focus on quality and pleasure and (ii) less frequent buyers (once a week) with a more pronounced interest in nutrition and energy (process). The first group was named the crust group and the second one the crumb group. The crumb family seems to be the one that is the most interested in the outcomes of the EU-FRESHBAKE project. This group is concerned by nutrition quality and would prefer a bread which has been done with a less energy demanding process. The “crust” group is schematically less interested in the nutrition, in the shelf life and in the energy demand of the process used to prepare the bread. The results from this survey should be handled with care due to the relative small size of the sample and to the fact that the average age of the sample was rather young.This study (report, paper, workshop…) has been carried out with financial support from the Commission of the European Communities, FP6, Thematic Area “Food quality and safety”, FOOD-2006-36302 EU-FRESH BAKE.Peer reviewe

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Abstract Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat

Correction to: Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

The original version of this article unfortunately contained a mistake

Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat

The attitudes of European consumers toward innovation in bread; interest of the consumers toward selected quality attributes

16 pages, 7 tables, 4 figures.-- The definitive version is available at www3.interscience.wiley.comThe present survey is integrated in the European project entitled EU-FRESHBAKE. This three years project started in October 2006. It aims at developing innovative processes and innovative formulations for the Bake Off technology taking into consideration, energy demand of the process, nutrition parameters and overall quality of the bread. To help and to advise the project on the expectations of the European consumers toward innovation, a consumer survey has been carried out taking into consideration 1050 consumers from 5 countries (Belgium, Croatia, Spain, France and Poland). The global objectives are (i) to better understand the attitudes of the European innovations in bread and (ii) to understand the main determinants of it. Globally the key points that arose from the survey were the environmental concern and the concern regarding health; these two aspects seem to steer the attitudes of the consumer. Basically, two categories of consumers were observed; (i) frequent (daily) buyers with a focus on quality and pleasure and (ii) less frequent buyers (once a week) with a more pronounced interest in nutrition and energy (process). The first group was named the crust group and the second one the crumb group. The crumb family seems to be the one that is the most interested in the outcomes of the EU-FRESHBAKE project. This group is concerned by nutrition quality and would prefer a bread which has been done with a less energy demanding process. The “crust” group is schematically less interested in the nutrition, in the shelf life and in the energy demand of the process used to prepare the bread. The results from this survey should be handled with care due to the relative small size of the sample and to the fact that the average age of the sample was rather young.This study (report, paper, workshop…) has been carried out with financial support from the Commission of the European Communities, FP6, Thematic Area “Food quality and safety”, FOOD-2006-36302 EU-FRESH BAKE.Peer reviewe