Reproducibility is a defining feature of science. However, because of strong incentives for innovation and weak incentives for confirmation, direct replication is rarely practiced or published. The ...Reproducibility Project is an open, large-scale, collaborative effort to systematically examine the rate and predictors of reproducibility in psychological science. So far, 72 volunteer researchers from 41 institutions have organized to openly and transparently replicate studies published in three prominent psychological journals in 2008. Multiple methods will be used to evaluate the findings, calculate an empirical rate of replication, and investigate factors that predict reproducibility. Whatever the result, a better understanding of reproducibility will ultimately improve confidence in scientific methodology and findings.
Motile and non-motile cilia are associated with mutually-exclusive genetic disorders. Motile cilia propel sperm or extracellular fluids, and their dysfunction causes primary ciliary dyskinesia. ...Non-motile cilia serve as sensory/signalling antennae on most cell types, and their disruption causes single-organ ciliopathies such as retinopathies or multi-system syndromes. CFAP20 is a ciliopathy candidate known to modulate motile cilia in unicellular eukaryotes. We demonstrate that in zebrafish, cfap20 is required for motile cilia function, and in C. elegans, CFAP-20 maintains the structural integrity of non-motile cilia inner junctions, influencing sensory-dependent signalling and development. Human patients and zebrafish with CFAP20 mutations both exhibit retinal dystrophy. Hence, CFAP20 functions within a structural/functional hub centered on the inner junction that is shared between motile and non-motile cilia, and is distinct from other ciliopathy-associated domains or macromolecular complexes. Our findings suggest an uncharacterised pathomechanism for retinal dystrophy, and potentially for motile and non-motile ciliopathies in general.
1. Primary objectives of national parks usually include both, the protection of natural processes and species conservation. When these objectives conflict, as occurs because of the cascading effects ...of large mammals (i.e., ungulates and large carnivores) on lower trophic levels, park managers have to decide upon the appropriate management while considering various local circumstances.
2. To analyse if ungulate management strategies are in accordance with the objectives defined for protected areas, we assessed the current status of ungulate management across European national parks using the naturalness concept and identified the variables that influence the management.
3. We collected data on ungulate management from 209 European national parks in 29 countries by means of a large-scale questionnaire survey. Ungulate management in the parks was compared by creating two naturalness scores. The first score reflects ungulate and large carnivore species compositions, and the second evaluates human intervention on ungulate populations. We then tested whether the two naturalness score categories are influenced by the management objectives, park size, years since establishment, percentage of government-owned land, and human impact on the environment (human influence index) using two generalized additive mixed models.
4. In 67.9% of the national parks, wildlife is regulated by culling (40.2%) or hunting (10.5%) or both (17.2%). Artificial feeding occurred in 81.3% of the national parks and only 28.5% of the national parks had a non-intervention zone covering at least 75% of the area. Furthermore, ungulate management differed greatly among the different countries, likely because of differences in hunting traditions and cultural and political backgrounds. Ungulate management was also influenced by park size, human impact on the landscape, and national park objectives, but after removing these variables from the full model the reduced models only showed a small change in the deviance explained. In areas with higher anthropogenic pressure, wildlife diversity tended to be lower and a higher number of domesticated species tended to be present. Human intervention (culling and artificial feeding) was lower in smaller national parks and when park objectives followed those set by the International Union for the Conservation of Nature (IUCN).
5. Our study shows that many European national parks do not fulfil the aims of protected area management as set by IUCN guidelines. In contrast to the USA and Canada, Europe currently has no common ungulate management policy within national parks. This lack of a common policy together with differences in species composition, hunting traditions, and cultural or political context has led to differences in ungulate management among European countries. To fulfil the aims and objectives of national parks and to develop ungulate management strategies further, we highlight the importance of creating a more integrated European ungulate management policy to meet the aims of national parks.
•We used the naturalness score to assess ungulate management in protected areas.•Ungulate management in national parks varied greatly among European countries.•Ungulate management reflects differences in legislation, policy and traditions.•An integrated European ungulate management framework for national parks is needed.
Latent heat storage units for refrigeration processes are promising as alternatives to water/glycol-based storage due to their significantly higher energy densities, which would lead to more compact ...and potentially more cost-effective storages. In this study, important thermophysical properties of five phase change material (PCM) candidates are determined in the temperature range between −22 and −35 °C and their compatibility with relevant metals and polymers is investigated. The goal is to complement existing scattered information in literature and to apply a consistent testing methodology to all PCMs, to enable a more reliable comparison between them. More specifically, the enthalpy of fusion, melting point, density, compatibility with aluminum, copper, polyethylene (PE), polypropylene (PP), neoprene and butyl rubber, are experimentally determined for 1-heptanol, n-decane, propionic acid, NaCl/water mixtures, and Al(NO3)3/water mixtures. The results of the investigations reveal individual strengths and weaknesses of the five candidates. Further, 23.3 wt.% NaCl in water stands out for its very high volumetric energy density and n-decane follows with a lower energy density but better compatibility with surrounding materials and supercooling performance. The importance of using consistent methodologies to determine thermophysical properties when the goal is to compare PCM performance is highlighted.
While endomyocardial biopsy (EMB) is recommended in adult patients with fulminant myocarditis, the clinical impact of its timing is still unclear.
Data were collected from 419 adult patients with ...clinically suspected fulminant myocarditis admitted to intensive care units across 36 tertiary centres in 15 countries worldwide. The diagnosis of myocarditis was histologically proven in 210 (50%) patients, either by EMB (n = 183, 44%) or by autopsy/explanted heart examination (n = 27, 6%), and clinically suspected cardiac magnetic resonance imaging confirmed in 96 (23%) patients. The primary outcome of survival free of heart transplantation (HTx) or left ventricular assist device (LVAD) at 1 year was specifically compared between patients with early EMB (within 2 days after intensive care unit admission, n = 103) and delayed EMB (n = 80). A propensity score-weighted analysis was done to control for confounders.
Median age on admission was 40 (29-52) years, and 322 (77%) patients received temporary mechanical circulatory support. A total of 273 (65%) patients survived without HTx/LVAD. The primary outcome was significantly different between patients with early and delayed EMB (70% vs. 49%, P = .004). After propensity score weighting, the early EMB group still significantly differed from the delayed EMB group in terms of survival free of HTx/LVAD (63% vs. 40%, P = .021). Moreover, early EMB was independently associated with a lower rate of death or HTx/LVAD at 1 year (odds ratio of 0.44; 95% confidence interval: 0.22-0.86; P = .016).
Endomyocardial biopsy should be broadly and promptly used in patients admitted to the intensive care unit for clinically suspected fulminant myocarditis.
The 2016
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7.8 Kaikōura earthquake was one of the largest earthquakes in New Zealand’s historical record, and it generated the most significant local source tsunami to affect New Zealand since ...1947. There are many unusual features of this earthquake from a tsunami perspective: the epicentre was well inland of the coast, multiple faults were involved in the rupture, and the greatest tsunami damage to residential property was far from the source. In this paper, we summarise the tectonic setting and the historical and geological evidence for past tsunamis on this coast, then present tsunami tide gauge and runup field observations of the tsunami that followed the Kaikōura earthquake. For the size of the tsunami, as inferred from the measured heights, the impact of this event was relatively modest, and we discuss the reasons for this which include: the state of the tide at the time of the earthquake, the degree of co-seismic uplift, and the nature of the coastal environment in the tsunami source region.
Obesity in the Workplace: Impact, Outcomes, and Recommendations Yarborough, Charles M; Brethauer, Stacy; Burton, Wayne N ...
Journal of occupational and environmental medicine,
2018-January, 2018-01-00, 20180101, Letnik:
60, Številka:
1
Journal Article
Recenzirano
OBJECTIVE:To conduct a comprehensive literature review to develop recommendations for managing obesity among workers to improve health outcomes and to explore the impact of obesity on health costs to ...determine whether a case can be made for surgical interventions and insurance coverage.
METHODS:We searched PubMed from 2011 to 2016, and CINAHL, Scopus, and Cochrane Registry of Clinical Trials for interventions addressing obesity in the workplace.
RESULTS:A total of 1419 articles were screened, resulting in 275 articles being included. Several areas were identified that require more research and investigation.
CONCLUSIONS:Our findings support the use of both lifestyle modification and bariatric surgery to assist appropriate patients in losing weight.
Mutations in genes encoding K
channel subunits have been reported for pancreatic disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype ...of mild intellectual disability, similar facies, myopathy, and cerebral white matter hyperintensities, with cardiac systolic dysfunction present in the two oldest patients. Patients are homozygous for a splice-site mutation in ABCC9 (c.1320 + 1 G > A), which encodes the sulfonylurea receptor 2 (SUR2) subunit of K
channels. This mutation results in an in-frame deletion of exon 8, which results in non-functional K
channels in recombinant assays. SUR2 loss-of-function causes fatigability and cardiac dysfunction in mice, and reduced activity, cardiac dysfunction and ventricular enlargement in zebrafish. We term this channelopathy resulting from loss-of-function of SUR2-containing K
channels ABCC9-related Intellectual disability Myopathy Syndrome (AIMS). The phenotype differs from Cantú syndrome, which is caused by gain-of-function ABCC9 mutations, reflecting the opposing consequences of K
loss- versus gain-of-function.
Primary ciliopathies represent a group of inherited disorders due to defects in the primary cilium, the 'cell's antenna'. The 100,000 Genomes Project was launched in 2012 by Genomics England (GEL), ...recruiting National Health Service (NHS) patients with eligible rare diseases and cancer. Sequence data were linked to Human Phenotype Ontology (HPO) terms entered by recruiting clinicians.
Eighty-three prescreened probands were recruited to the 100,000 Genomes Project suspected to have congenital malformations caused by ciliopathies in the following disease categories: Bardet-Biedl syndrome (n=45), Joubert syndrome (n=14) and 'Rare Multisystem Ciliopathy Disorders' (n=24). We implemented a bespoke variant filtering and analysis strategy to improve molecular diagnostic rates for these participants.
We determined a research molecular diagnosis for n=43/83 (51.8%) probands. This is 19.3% higher than previously reported by GEL (n=27/83 (32.5%)). A high proportion of diagnoses are due to variants in non-ciliopathy disease genes (n=19/43, 44.2%) which may reflect difficulties in clinical recognition of ciliopathies. n=11/83 probands (13.3%) had at least one causative variant outside the tiers 1 and 2 variant prioritisation categories (GEL's automated triaging procedure), which would not be reviewed in standard 100,000 Genomes Project diagnostic strategies. These include four structural variants and three predicted to cause non-canonical splicing defects. Two unrelated participants have biallelic likely pathogenic variants in
, a putative novel ciliopathy disease gene.
These data illustrate the power of linking large-scale genome sequence to phenotype information. They demonstrate the value of research collaborations in order to maximise interpretation of genomic data.
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