Genetic testing of children for adult-onset conditions: opinions of the British adult population and implications for clinical practice

This study set out to explore the attitudes of a representative sample of the British public towards genetic testing in children to predict disease in the future. We sought opinions about genetic testing for adult-onset conditions for which no prevention/treatment is available during childhood, and about genetic 'carrier' status to assess future reproductive risks. The study also examined participants' level of agreement with the reasons professional organisations give in favour of deferring such testing. Participants (n=2998) completed a specially designed questionnaire, distributed by email. Nearly half of the sample (47%) agreed that parents should be able to test their child for adult-onset conditions, even if there is no treatment or prevention at time of testing. This runs contrary to professional guidance about genetic testing in children. Testing for carrier status was supported by a larger proportion (60%). A child's future ability to decide for her/himself if and when to be tested was the least supported argument in favour of deferring testing.European Journal of Human Genetics advance online publication, 5 November 2014; doi:10.1038/ejhg.2014.221

Ethnic Differences in Leaving Home: Timing and Pathways

The dynamics of leaving home for youth from migrant families in the Netherlands are examined using individual administrative data on the 1977 and 1983 birth cohorts for the period 1999–2004. A competing-risks approach is applied to distinguish leaving home for union formation, to live independently, and to share with others. Migrant youth, and particularly Turkish and Moroccan youth, leave home at a significantly younger age than Dutch youth, given the relevant background variables. This is remarkable, given the older ages at which young people in the origin countries leave the parental home. The result may be seen as evidence of how the potential effects of cultural norms are counter-affected by other factors, such as the facilities of the welfare state and the awkward position of migrant youth between two cultures. Considering the pathways out of home, the analysis largely confirms the expected pattern: Turkish and Moroccan youth leave home more often for union formation and particularly marriage, while this pathway is of minor importance for Dutch youth at early ages

Parenting Science Gang : radical co-creation of research projects led by parents of young children

Background Parents are increasingly searching online for information supported by research but can find it difficult to identify results relevant to their own experiences. More troublingly, a number of studies indicate that parenting information found online often can be misleading or wrong. The goal of the Parenting Science Gang (PSG) project was to use the power of the Internet to help parents ask questions they wanted to have answered by scientific research and to feel confident in assessing research evidence. Methods By using Facebook to recruit groups and facilitate interactions, PSG was able to engage fully the target public of parents of young children in the radical co-production of scientific studies, while not creating an undue burden on time or restricting participants due to disability, financial status or location. By giving parents true partnership and control of creation of projects, PSG ensured that the chosen questions were ones that were of most relevance and interest to them. Results This paper presents a summary of eight projects, with three in more detail, designed and implemented by PSG Facebook groups in collaboration with experts. Most projects had health related themes, often prompted by dissatisfaction with treatment of parents by health professionals or by feelings of being marginalised by pregnancy and motherhood, as well as by the lack of evidence for their questions and concerns. The PSG approach meant that these frustrations were channelled into actions. All eight of the PSG groups engaged in meaningful interactions with experts and co-produced studies with the groups defining the questions of interest. Conclusions This radically user-led design meant that the PSG staff and the collaborating experts had to live with a high degree of uncertainty. Nevertheless, PSG achieved its goal of academically productive, truly co-produced projects, but as important were the positive effects it had on many of the participants, both parents and experts. At the point of writing this paper, PSG projects have led to outputs including at least eight papers published, in press or in preparation, seven conference presentations, testimony to the Infant Feeding All-Party Parliamentary Group, and with more to come

Three dimensional first-pass myocardial perfusion imaging at 3T: feasibility study

<p>Abstract</p> <p>Background</p> <p>In patients with ischemic heart disease, accurate assessment of the extent of myocardial perfusion deficit may be important in predicting prognosis of clinical cardiac outcomes. The aim of this study was to compare the ability of three dimensional (3D) and of two dimensional (2D) multi-slice myocardial perfusion imaging (MPI) using cardiovascular magnetic resonance (CMR) in determining the size of defects, and to demonstrate the feasibility of 3D MPI in healthy volunteers at 3 Tesla.</p> <p>Methods</p> <p>A heart phantom was used to compare the accuracy of 3D and 2D multi-slice MPI in estimating the volume fraction of seven rubber insets which simulated transmural myocardial perfusion defects. Three sets of cross-sectional planes were acquired for 2D multi-slice imaging, where each set was shifted along the partition encoding direction by ± 10 mm. 3D first-pass contrast-enhanced (0.1 mmol/kg Gd-DTPA) MPI was performed in three volunteers with sensitivity encoding for six-fold acceleration. The upslope of the myocardial time-intensity-curve and peak SNR/CNR values were calculated.</p> <p>Results</p> <p>Mean/standard deviation of errors in estimating the volume fraction across the seven defects were -0.44/1.49%, 2.23/2.97%, and 2.59/3.18% in 3D, 2D 4-slice, and 2D 3-slice imaging, respectively. 3D MPI performed in healthy volunteers produced excellent quality images with whole left ventricular (LV) coverage. Peak SNR/CNR was 57.6 ± 22.0/37.5 ± 19.7 over all segments in the first eight slices.</p> <p>Conclusion</p> <p>3D performed better than 2D multi-slice MPI in estimating the size of perfusion defects in phantoms. Highly accelerated 3D MPI at 3T was feasible in volunteers, allowing whole LV coverage with excellent image quality and high SNR/CNR.</p

Effectiveness of an online curriculum for medical students on genetics, genetic testing and counseling

Background: It is increasingly important that physicians have a thorough understanding of the basic science of human genetics and the ethical, legal and social implications (ELSI) associated with genetic testing and counseling. Methods: The authors developed a series of web-based courses for medical students on these topics. The course modules are interactive, emphasize clinical case studies, and can easily be incorporated into existing medical school curricula. Results: Results of a &#x2018;real world&#x2019; effectiveness trial indicate that the courses have a statistically significant effect on knowledge, attitude, intended behavior and self-efficacy related to genetic testing (p&#60;0.001; N varies between 163 and 596 for each course). Conclusions: The results indicate that this curriculum is an effective tool for educating medical students on the ELSI associated with genetic testing and for promoting positive changes in students&#x0027; confidence, counseling attitudes and behaviors

Transient Ureteral Obstruction Prevents against Kidney Ischemia/Reperfusion Injury via Hypoxia-Inducible Factor (HIF)-2α Activation

Although the protective effect of transient ureteral obstruction (UO) prior to ischemia on subsequent renal ischemia/reperfusion (I/R) injury has been documented, the underlying molecular mechanism remains to be understood. We showed in the current study that 24 h of UO led to renal tubular hypoxia in the ipsilateral kidney in mice, with the accumulation of hypoxia-inducible factor (HIF)-2α, which lasted for a week after the release of UO. To address the functions of HIF-2α in UO-mediated protection of renal IRI, we utilized the Mx-Cre/loxP recombination system to knock out target genes. Inactivation of HIF-2α, but not HIF-1α blunted the renal protective effects of UO, as demonstrated by much higher serum creatinine level and severer histological damage. UO failed to prevent postischemic neutrophil infiltration and apoptosis induction in HIF-2α knockout mice, which also diminished the postobstructive up-regulation of the protective molecule, heat shock protein (HSP)-27. The renal protective effects of UO were associated with the improvement of the postischemic recovery of intra-renal microvascular blood flow, which was also dependent on the activation of HIF-2α. Our results demonstrated that UO protected the kidney via activation of HIF-2α, which reduced tubular damages via preservation of adequate renal microvascular perfusion after ischemia. Thus, preconditional HIF-2α activation might serve as a novel therapeutic strategy for the treatment of ischemic acute renal failure

Communication in cancer genetic counselling: does it reflect counselees' previsit needs and preferences?

This study sought to describe counsellor–counselee interaction during initial cancer genetic counselling consultations and to examine whether the communication reflects counselees' previsit needs. A total of 130 consecutive counselees, referred mainly for breast or colon cancer, completed a questionnaire before their first appointment at a genetic clinic. Their visit was videotaped. Counselee and counsellor verbal communications were analysed and initiative to discuss 11 genetics-specific conversational topics was assessed. The content of the visit appeared relatively standard. Overall, counselees had a stronger psychosocial focus than counsellors. Counsellors directed the communication more and initiated the discussion of most of the topics assessed. Counselees did not appear to communicate readily in a manner that reflected their previsit needs. Counsellors provided more psychosocial information to counselees in higher need for emotional support, yet did not enquire more about counselees' specific concerns. New counselees may be helped by receiving more information on the counselling procedure prior to their visit, and may be advised to prepare the visit more thoroughly so as to help them verbalise more their queries during the visit

TRY plant trait database - enhanced coverage and open access

Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives

Testosterone and Cortisol Release among Spanish Soccer Fans Watching the 2010 World Cup Final

This field study investigated the release of testosterone and cortisol of a vicarious winning experience in Spanish fans watching the finals between Spain and the Netherlands in the 2010 FIFA World Cup Soccer. Spanish fans (n = 50) watched the match with friends or family in a public place or at home and also participated in a control condition. Consistent with hypotheses, results revealed that testosterone and cortisol levels were higher when watching the match than on a control day. However, neither testosterone nor cortisol levels increased after the victory of the Spanish team. Moreover, the increase in testosterone secretion was not related to participants' sex, age or soccer fandom, but the increase in total cortisol secretion during the match was higher among men than among women and among fans that were younger. Also, increases in cortisol secretion were greater to the degree that people were a stronger fan of soccer. Level of fandom further appeared to account for the sex effect, but not for the age effect. Generally, the testosterone data from this study are in line with the challenge hypothesis, as testosterone levels of watchers increased to prepare their organism to defend or enhance their social status. The cortisol data from this study are in line with social self-preservation theory, as higher cortisol secretion among young and greater soccer fans suggests that especially they perceived that a negative outcome of the match would threaten their own social esteem

Accelerated apoptotic death and <i>in vivo</i> turnover of erythrocytes in mice lacking functional mitogen- and stress-activated kinase MSK1/2

The mitogen- and stress-activated kinase MSK1/2 plays a decisive role in apoptosis. In analogy to apoptosis of nucleated cells, suicidal erythrocyte death called eryptosis is characterized by cell shrinkage and cell membrane scrambling leading to phosphatidylserine (PS) externalization. Here, we explored whether MSK1/2 participates in the regulation of eryptosis. To this end, erythrocytes were isolated from mice lacking functional MSK1/2 (msk−/−) and corresponding wild-type mice (msk+/+). Blood count, hematocrit, hemoglobin concentration and mean erythrocyte volume were similar in both msk−/− and msk+/+ mice, but reticulocyte count was significantly increased in msk−/− mice. Cell membrane PS exposure was similar in untreated msk−/− and msk+/+ erythrocytes, but was enhanced by pathophysiological cell stressors ex vivo such as hyperosmotic shock or energy depletion to significantly higher levels in msk−/− erythrocytes than in msk+/+ erythrocytes. Cell shrinkage following hyperosmotic shock and energy depletion, as well as hemolysis following decrease of extracellular osmolarity was more pronounced in msk−/− erythrocytes. The in vivo clearance of autologously-infused CFSE-labeled erythrocytes from circulating blood was faster in msk−/− mice. The spleens from msk−/− mice contained a significantly greater number of PS-exposing erythrocytes than spleens from msk+/+ mice. The present observations point to accelerated eryptosis and subsequent clearance of erythrocytes leading to enhanced erythrocyte turnover in MSK1/2-deficient mice