Associations between home literacy environment and children's reading ability are often assumed to reflect a direct influence. However, heritability could account for the association between parent ...and child literacy-related measures. We used data from 101 mother/father/child triads to consider the extent to which associations between home literacy and children's reading fluency could be accounted for by parental reading fluency. Although home literacy correlated significantly with children's reading, no variable predicted significant variance after allowing for parental reading, except the number of books in the home. By incorporating measures of heritable parental traits into studies investigating home environment effects, we can start to identify which variables are correlates of parental traits and which might play a causal role in fostering children's development.
To provide an observational basis for the Intergovernmental Panel on Climate Change projections of a slowing Atlantic meridional overturning circulation (MOC) in the 21st century, the Overturning in ...the Subpolar North Atlantic Program (OSNAP) observing system was launched in the summer of 2014. The first 21-month record reveals a highly variable overturning circulation responsible for the majority of the heat and freshwater transport across the OSNAP line. In a departure from the prevailing view that changes in deep water formation in the Labrador Sea dominate MOC variability, these results suggest that the conversion of warm, salty, shallow Atlantic waters into colder, fresher, deep waters that move southward in the Irminger and Iceland basins is largely responsible for overturning and its variability in the subpolar basin.
Knowledge of the exact distribution of meiotic crossovers (COs) and gene conversions (GCs) is essential for understanding many aspects of population genetics and evolution, from haplotype structure ...and long-distance genetic linkage to the generation of new allelic variants of genes. To this end, we resequenced the four products of 13 meiotic tetrads along with 10 doubled haploids derived from Arabidopsis thaliana hybrids. GC detection through short reads has previously been confounded by genomic rearrangements. Rigid filtering for misaligned reads allowed GC identification at high accuracy and revealed an ∼80-kb transposition, which undergoes copy-number changes mediated by meiotic recombination. Non-crossover associated GCs were extremely rare most likely due to their short average length of ∼25-50 bp, which is significantly shorter than the length of CO-associated GCs. Overall, recombination preferentially targeted non-methylated nucleosome-free regions at gene promoters, which showed significant enrichment of two sequence motifs. DOI: http://dx.doi.org/10.7554/eLife.01426.001.
SNP data sets can be used to infer a wealth of information about natural populations, including information about their structure, genetic diversity, and the presence of loci under selection. ...However, SNP data analysis can be a time‐consuming and challenging process, not in the least because at present many different software packages are needed to execute and depict the wide variety of mainstream population‐genetic analyses. Here, we present SambaR, an integrative and user‐friendly R package which automates and simplifies quality control and population‐genetic analyses of biallelic SNP data sets. SambaR allows users to perform mainstream population‐genetic analyses and to generate a wide variety of ready to publish graphs with a minimum number of commands (less than 10). These wrapper commands call functions of existing packages (including adegenet, ape, LEA, poppr, pcadapt and StAMPP) as well as new tools uniquely implemented in SambaR. We tested SambaR on online available SNP data sets and found that SambaR can process data sets of over 100,000 SNPs and hundreds of individuals within hours, given sufficient computing power. Newly developed tools implemented in SambaR facilitate optimization of filter settings, objective interpretation of ordination analyses, enhance comparability of diversity estimates from reduced representation library SNP data sets, and generate reduced SNP panels and structure‐like plots with Bayesian population assignment probabilities. SambaR facilitates rapid population genetic analyses on biallelic SNP data sets by removing three major time sinks: file handling, software learning, and data plotting. In addition, SambaR provides a convenient platform for SNP data storage and management, as well as several new utilities, including guidance in setting appropriate data filters. The SambaR source script, manual and example data set are distributed through GitHub: https://github.com/mennodejong1986/SambaR.
Changes in the Atlantic Meridional Overturning Circulation, which have the potential to drive societally-important climate impacts, have traditionally been linked to the strength of deep water ...formation in the subpolar North Atlantic. Yet there is neither clear observational evidence nor agreement among models about how changes in deep water formation influence overturning. Here, we use data from a trans-basin mooring array (OSNAP-Overturning in the Subpolar North Atlantic Program) to show that winter convection during 2014-2018 in the interior basin had minimal impact on density changes in the deep western boundary currents in the subpolar basins. Contrary to previous modeling studies, we find no discernable relationship between western boundary changes and subpolar overturning variability over the observational time scales. Our results require a reconsideration of the notion of deep western boundary changes representing overturning characteristics, with implications for constraining the source of overturning variability within and downstream of the subpolar region.
Summary Background In 2002, the euthanasia act came into effect in the Netherlands, which was followed by a slight decrease in the euthanasia frequency. We assessed frequency and characteristics of ...euthanasia, physician-assisted suicide, and other end-of-life practices in 2010, and assessed trends since 1990. Methods In 1990, 1995, 2001, 2005, and 2010 we did nationwide studies of a stratified sample from the death registry of Statistics Netherlands, to which all deaths and causes were reported. We mailed questionnaires to physicians attending these deaths (2010: n=8496 deaths). All cases were weighted to adjust for the stratification procedure and for differences in response rates in relation to the age, sex, marital status, region of residence, and cause and place of death. Findings In 2010, of all deaths in the Netherlands, 2·8% (95% CI 2·5–3·2; 475 of 6861) were the result of euthanasia. This rate is higher than the 1·7% (1·5–1·8; 294 of 9965) in 2005, but comparable with those in 2001 and 1995. Distribution of sex, age, and diagnosis was stable between 1990 and 2010. In 2010, 77% (3136 of 4050) of all cases of euthanasia or physician-assisted suicide were reported to a review committee (80% 1933 of 2425 in 2005). Ending of life without an explicit patient request in 2010 occurred less often (0·2%; 95% CI 0·1–0·3; 13 of 6861) than in 2005, 2001, 1995, and 1990 (0·8%; 0·6–1·1; 45 of 5197). Continuous deep sedation until death occurred more frequently in 2010 (12·3% 11·6–13·1; 789 of 6861) than in 2005 (8·2% 7·8–8·6; 521 of 9965). Of all deaths in 2010, 0·4% (0·3–0·6; 18 of 6861) were the result of the patient's decision to stop eating and drinking to end life; in half of these cases the patient had made a euthanasia request that was not granted. Interpretation Our study provides insight in consequences of regulating euthanasia and physician-assisted suicide within the broader context of end-of-life practices. In the Netherlands the euthanasia law resulted in a relatively transparent practice. Although translating these results to other countries is not straightforward, they can inform the debate on legalisation of assisted dying in other countries. Funding The Netherlands Organization for Research and Development (ZonMw).
Retinal vessels provide a unique opportunity to study both systemic and cerebrovascular disease. Smaller retinal arteriolar calibers are strongly related to hypertension, whereas larger retinal ...venular calibers are more related to inflammation, cerebral hypoperfusion, and cerebrovascular disease. Whether retinal vessel calibers are related to dementia remains unclear.
We investigated whether retinal arteriolar and venular calibers are associated with risk of dementia, and its subtypes Alzheimer disease (AD) and vascular dementia, in the prospective population-based Rotterdam Study. Digitized retinal images were available in 5,553 participants aged 55 years or over and dementia-free at baseline (1990-1993). Participants were re-examined in 1993-1994, 1997-1999, and 2002-2004 and were continuously monitored for development of dementia.
During a mean follow-up of 11.6 years, 655 participants developed dementia. AD was diagnosed in 519 and vascular dementia in 73 participants. Larger venular calibers were associated with an increased risk of dementia, in particular vascular dementia (age- and sex-adjusted hazard ratio per SD increase: 1.31; 95% confidence interval 1.06-1.64), but not AD. The association remained significant after adjustment for stroke and cardiovascular risk factors. Smaller arteriolar calibers were also associated with an increased risk of vascular dementia, yet only when adjusted for venular calibers.
Retinal venular widening is associated with an increased risk of vascular dementia. Our findings are in line with previous observations in stroke and cerebral small-vessel disease and suggest that the association between larger retinal venular calibers and dementia may reflect cerebral hypoperfusion and subsequent ischemia.
Aim
The insular cortex consists of a heterogenous cytoarchitecture and diverse connections and is thought to integrate autonomic, cognitive, emotional and interoceptive functions to guide behaviour. ...In Parkinson's disease (PD) and dementia with Lewy bodies (DLB), it reveals α‐synuclein pathology in advanced stages. The aim of this study is to assess the insular cortex cellular and subregional vulnerability to α‐synuclein pathology in well‐characterized PD and DLB subjects.
Methods
We analysed postmortem insular tissue from 24 donors with incidental Lewy body disease, PD, PD with dementia (PDD), DLB and age‐matched controls. The load and distribution of α‐synuclein pathology and tyrosine hydroxylase (TH) cells were studied throughout the insular subregions. The selective involvement of von Economo neurons (VENs) in the anterior insula and astroglia was assessed in all groups.
Results
A decreasing gradient of α‐synuclein pathology load from the anterior periallocortical agranular towards the intermediate dysgranular and posterior isocortical granular insular subregions was found. Few VENs revealed α‐synuclein inclusions while astroglial synucleinopathy was a predominant feature in PDD and DLB. TH neurons were predominant in the agranular and dysgranular subregions but did not reveal α‐synuclein inclusions or significant reduction in density in patient groups.
Conclusions
Our study highlights the vulnerability of the anterior agranular insula to α‐synuclein pathology in PD, PDD and DLB. Whereas VENs and astrocytes were affected in advanced disease stages, insular TH neurons were spared. Owing to the anterior insula's affective, cognitive and autonomic functions, its greater vulnerability to pathology indicates a potential contribution to nonmotor deficits in PD and DLB.
Patient Reported Outcome Measures (PROMs) are increasingly used in routine clinical practice to facilitate patients in sharing and discussing health-related topics with their clinician. This study ...focuses on the implementation experiences of healthcare professionals and patients during the early implementation phase of the newly developed Dutch set of dialysis PROMs and aims to understand the process of early implementation of PROMs from the users' perspectives.
This is a qualitative study among healthcare professionals (physicians and nursing staff: n = 13) and patients (n = 14) of which 12 were receiving haemodialysis and 2 peritoneal dialysis. Semi-structured interviews were used to understand the barriers and facilitators that both professionals and patients encounter when starting to implement PROMs.
The early PROM implementation process is influenced by a variety of factors that we divided into barriers and facilitators. We identified four barriers: patient´s indifference to PROMs, scepticism on the benefits of aggregated PROM data, the limited treatment options open to doctors and organizational issues such as mergers, organizational problems and renovations. We also describe four facilitators: professional involvement and patient support, a growing understanding of the use of PROMs during the implementation, quick gains from using PROMs such as receiving instant feedback and a clear ambition on patient care such as a shared view on patient involvement and management support.
In this qualitative study carried out during the early implementation phase of the Dutch dialysis PROM set, we found that patients did not yet consider the PROM set to be a useful additional tool to share information with their doctor. This was despite the professionals' primary reason for using PROMs being to improve patient-doctor communication. Furthermore, the perceived lack of intervention options was frustrating for some of the professionals. We found that nurses could be important enablers of further implementation because of their intensive relationship with dialysis patients.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Retinal vessels may provide information on cerebral vascular pathology, because they share many features with cerebral vessels. A smaller ratio of the retinal arteriolar-to-venular diameters ...reportedly predicts the risk of stroke. It is unclear if this is due to arteriolar narrowing or venular dilation.
To investigate whether smaller arteriolar or larger venular diameters are related to the risk of stroke and cerebral infarction.
This study was based on the prospective population-based Rotterdam Study and included 5,540 participants of 55 years or over, who had gradable fundus transparencies and were free of stroke at baseline (1990 to 1993). For each participant, retinal arteriolar and venular diameters were measured on digitized images of one eye. Follow-up for first-ever stroke was complete until January 1, 2002.
After a mean follow-up of 8.5 years, 411 participants had a stroke, of whom 259 had cerebral infarction. Larger venular diameters were associated with an increased risk of stroke (hazard ratio HR adjusted for age and sex per SD increase: 1.12 95% CI: 1.02 to 1.24) and cerebral infarction (HR: 1.15 95% CI: 1.02 to 1.29). Smaller arteriolar diameters were neither related to the risk of stroke (HR per SD decrease: 1.02 95% CI: 0.93 to 1.13) nor to the risk of cerebral infarction (HR: 1.02 95% CI: 0.90 to 1.15). After additional adjustment for other cardiovascular risk factors, the results did not change.
Larger retinal venular diameters are associated with an increased risk of stroke and cerebral infarction. The role of venules in cerebrovascular disease warrants further exploration.
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