Ongoing efforts focus on quantifying plastic pollution and describing and estimating the related magnitude of exposure and impacts on human and environmental health. Data gathered during such work... Show moreOngoing efforts focus on quantifying plastic pollution and describing and estimating the related magnitude of exposure and impacts on human and environmental health. Data gathered during such work usually follows a receptor perspective. However, Life Cycle Assessment (LCA) represents an emitter perspective. This study examines existing data gathering and reporting approaches for field and laboratory studies on micro- and nanoplastics (MNPs) exposure and effects relevant to LCA data inputs. The outcomes indicate that receptor perspective approaches do not typically provide suitable or sufficiently harmonised data. Improved design is needed in the sampling, testing and recording of results using harmonised, validated and comparable methods, with more comprehensive reporting of relevant data. We propose a three-level set of requirements for data recording and reporting to increase the potential for LCA studies and models to utilise data gathered in receptor-oriented studies. We show for which purpose such data can be used as inputs to LCA, particularly in life cycle impact assessment (LCIA) methods. Implementing these requirements will facilitate proper integration of the potential environmental impacts of plastic losses from human activity (e.g. litter) into LCA. Then, the impacts of plastic emissions can eventually be connected and compared with other environmental issues related to anthropogenic activities. Show less
Boer, E. de; Ockeloen, C.W.; Kampen, R.A.; Hampstead, J.E.; Dingemans, A.J.M.; Rots, D.; ... ; Kleefstra, T. 2022
Purpose: Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We... Show morePurpose: Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants. Methods: We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome. We assessed pathogenicity of variants through in silico analyses and cell-based experiments. Results: We identified 20 unique, mostly de novo, ANKRD11 missense variants in 29 individuals, presenting with syndromic neurodevelopmental disorders similar to KBG syndrome caused by ANKRD11 protein truncating variants or 16q24.3 microdeletions. Missense variants significantly clustered in repression domain 2 at the ANKRD11 C-terminus. Of the 10 functionally studied missense variants, 6 reduced ANKRD11 stability. One variant caused decreased proteasome degradation and loss of ANKRD11 transcriptional activity. Conclusion: Our study indicates that pathogenic heterozygous ANKRD11 missense variants cause the clinically recognizable KBG syndrome. Disrupted transrepression capacity and reduced protein stability each independently lead to ANKRD11 loss-of-function, consistent with haploinsufficiency. This highlights the diagnostic relevance of ANKRD11 missense variants, but also poses diagnostic challenges because the KBG-associated phenotype may be mild and inherited pathogenic ANKRD11 (missense) variants are increasingly observed, warranting stringent variant classification and careful phenotyping. (C) 2022 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. Show less
Taramasso, M.; Benfari, G.; Bijl, P. van der; Alessandrini, H.; Attinger-Toller, A.; Biasco, L.; ... ; Maisano, F. 2019
BACKGROUND Tricuspid regurgitation is associated with increased rates of heart failure (HF) and mortality. Transcatheter tricuspid valve interventions (TTVI) are promising, but the clinical benefit... Show moreBACKGROUND Tricuspid regurgitation is associated with increased rates of heart failure (HF) and mortality. Transcatheter tricuspid valve interventions (TTVI) are promising, but the clinical benefit is unknown.OBJECTIVES The purpose of this study was to investigate the potential benefit of TTVI over medical therapy in a propensity score matched population.METHODS The TriValve (Transcatheter Tricuspid Valve Therapies) registry collected 472 patients from 22 European and North American centers who underwent TTVI from 2016 to 2018. A control cohort formed by 2 large retrospective registries enrolling medically managed patients with >= moderate tricuspid regurgitation in Europe and North America (n = 1,179) were propensity score 1:1 matched (distance +/- 0.2 SD) using age, EuroSCORE II, and systolic pulmonary artery pressure. Survival was tested with Cox regression analysis. Primary endpoint was 1-year mortality or HF rehospitalization or the composite.RESULTS After matching, 268 adequately matched pairs of patients were identified. Compared with control subjects, TTVI patients had lower 1-year mortality (23 +/- 3% vs. 36 +/- 3%; p = 0.001), rehospitalization (26 +/- 3% vs. 47 +/- 3%; p < 0.0001), and composite endpoint (32 +/- 4% vs. 49 +/- 3%; p = 0.0003). TTVI was associated with greater survival and freedom from HF rehospitalization (hazard ratio [HR]: 0.60; 95% confidence interval [CI]: 0.46 to 0.79; p = 0.003 unadjusted), which remained significant after adjusting for sex, New York Heart Association functional class, right ventricular dysfunction, and atrial fibrillation (HR: 0.39; 95% CI: 0.26 to 0.59; p < 0.0001) and after further adjustment for mitral regurgitation and pacemaker/defibrillator (HR: 0.35; 95% CI: 0.23 to 0.54; p < 0.0001).CONCLUSIONS In this propensity-matched case-control study, TTVI is associated with greater survival and reduced HF rehospitalization compared with medical therapy alone. Randomized trials should be performed to confirm these results. (C) 2019 by the American College of Cardiology Foundation. Show less
Background: A considerable body of evidence accumulated especially during the last decade, demonstrating that early nutrition and lifestyle have long-term effects on later health and disease (... Show moreBackground: A considerable body of evidence accumulated especially during the last decade, demonstrating that early nutrition and lifestyle have long-term effects on later health and disease ("developmental or metabolic programming"). Methods: Researchers involved in the European Union funded international EarlyNutrition research project consolidated the scientific evidence base and existing recommendations to formulate consensus recommendations on nutrition and lifestyle before and during pregnancy, during infancy and early childhood that take long-term health impact into account. Systematic reviews were performed on published dietary guidelines, standards and recommendations, with special attention to long-term health consequences. In addition, systematic reviews of published systematic reviews on nutritional interventions or exposures in pregnancy and in infants and young children aged up to 3 years that describe effects on subsequent overweight, obesity and body composition were performed. Experts developed consensus recommendations incorporating the wide-ranging expertise from additional 33 stakeholders. Findings: Most current recommendations for pregnant women, particularly obese women, and for young children do not take long-term health consequences of early nutrition into account, although the available evidence for relevant consequences of lifestyle, diet and growth patterns in early life on later health and disease risk is strong. Interpretation: We present updated recommendations for optimized nutrition before and during pregnancy, during lactation, infancy and toddlerhood, with special reference to later health outcomes. These recommendations are developed for affluent populations, such as women and children in Europe, and should contribute to the primary prevention of obesity and associated non-communicable diseases. (c) 2019 S. Karger AG, Basel Show less
Het eerste half jaar heeft de Alumnicommissie 'Alumissie' van de B.I.L. al hard gewerkt. Zo zijn wij aanwezig geweest bij de prinsjesdaganalyse, een interessante alumnilezing aan het... Show moreHet eerste half jaar heeft de Alumnicommissie 'Alumissie' van de B.I.L. al hard gewerkt. Zo zijn wij aanwezig geweest bij de prinsjesdaganalyse, een interessante alumnilezing aan het voorbereiden en voor u ligt de eerste editie van de Bestuurskundige Berichten. Hieronder stelt de Alumnicommissie zich voor. Wij hopen u allen te mogen verwelkomen op de activiteiten en wensen u voor nu veel leesplezier toe! Show less
