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Non-invasive prenatal testing (NIPT) for the detection of foetal aneuploidy through analysis of cell-free DNA (cfDNA) in maternal blood is offered routinely by many healthcare providers across the developed world. This testing has recently been recommended for evaluative implementation in the UK National Health Service (NHS) foetal anomaly screening pathway as a contingent screen following an increased risk of trisomy 21, 18 or 13. In preparation for delivering a national service, we have implemented cfDNA-based NIPT in our Regional Genetics Laboratory. Here, we describe our validation and verification processes and initial experiences of the technology prior to rollout of a national screening service.
Data are presented from more than 1000 patients (215 retrospective and 840 prospective) from ‘high- and low-risk pregnancies’ with outcome data following birth or confirmatory invasive prenatal sampling. NIPT was by the Illumina Verifi® test.
Our data confirm a high-fidelity service with a failure rate of ~0.24% and a high sensitivity and specificity for the detection of foetal trisomy 13, 18 and 21. Secondly, the data show that a significant proportion of patients continue their pregnancies without prenatal invasive testing or intervention after receiving a high-risk cfDNA-based result. A total of 46.5% of patients referred to date were referred for reasons other than high screen risk. Ten percent (76/840 clinical service referrals) of patients were referred with ultrasonographic finding of a foetal structural anomaly, and data analysis indicates high- and low-risk scan indications for NIPT.
NIPT can be successfully implemented into NHS regional genetics laboratories to provide high-quality services. NHS provision of NIPT in patients with high-risk screen results will allow for a reduction of invasive testing and partially improve equality of access to cfDNA-based NIPT in the pregnant population. Patients at low risk for a classic trisomy or with other clinical indications are likely to continue to access cfDNA-based NIPT as a private test.
A new fossil site in a previously unexplored part of western Madagascar (the Beanka Protected Area) has yielded remains of many recently extinct vertebrates, including giant lemurs (Babakotia radofilai, Palaeopropithecus kelyus, Pachylemur sp., and Archaeolemur edwardsi), carnivores (Cryptoprocta spelea), the aardvark-like Plesiorycteropus sp., and giant ground cuckoos (Coua). Many of these represent considerable range extensions. Extant species that were extirpated from the region (e.g., Prolemur simus) are also present. Calibrated radiocarbon ages for 10 bones from extinct primates span the last three millennia. The largely undisturbed taphonomy of bone deposits supports the interpretation that many specimens fell in from a rock ledge above the entrance. Some primates and other mammals may have been prey items of avian predators, but human predation is also evident. Strontium isotope ratios (87Sr/86Sr) suggest that fossils were local to the area. Pottery sherds and bones of extinct and extant vertebrates with cut and chop marks indicate human activity in previous centuries. Scarcity of charcoal and human artifacts suggests only occasional visitation to the site by humans. The fossil assemblage from this site is unusual in that, while it contains many sloth lemurs, it lacks ratites, hippopotami, and crocodiles typical of nearly all other Holocene subfossil sites on Madagascar.
Poor social cognition is prevalent in schizophrenia spectrum disorders. Some authors argue that these effects are symptom-specific and that socio-cognitive difficulties (e.g. theory of mind) are strongly associated with thought disorder and symptoms of disorganisation.
The current review tests the strength of this association.
We meta-analysed studies published between 1980 and 2016 that tested the association between social cognition and these symptoms in schizophrenia spectrum disorders.
Our search (PsycINFO, MEDLINE and Web of Science) identified 123 studies (N = 9107). Overall effect size as r = −0.313, indicating a moderate association between symptoms and social cognition. Subanalyses yielded a moderate association between symptoms and theory of mind (r = −0.349) and emotion recognition (r = −0.334), but smaller effect sizes for social perception (r = −0.188), emotion regulation (r = −0.169) and attributional biases (r = −0.143).
The association is interpreted within models of communication that highlight the importance of mentalisation and processing of partner-specific cues in conversational alignment and grounding.
Falls prevention strategies can only be effective in reducing falls amongst older people if they are adopted and enacted in their daily lives. There is limited evidence identifying what older people in residential aged care (RAC) homes understand about falls and falls prevention, or what may limit or enable their adoption of strategies. This study was conducted in two countries and explored older people's knowledge and awareness of falls and their preferences, opportunities and motivation to undertake falls prevention strategies. A cross-sectional survey was administered to participants (N = 70) aged 65 years and over, living in six RAC homes in Perth, Australia and six RAC homes in Swansea, Wales, United Kingdom. Participants had limited knowledge about intrinsic falls risk factors and strategies to address these and frequently expressed self-blame regarding falling. Almost all (N = 67, 95.7%) participants felt highly motivated to maintain their current functional mobility and independence in everyday tasks. Key preferences for receiving falls prevention messages favoured a positive approach promoting wellness and independence (N = 41, 58.6%) via pictorial posters or brochures (N = 37, 52.9%) and small group discussions preferably with demonstrations (N = 18, 25.7%). Findings from this study may assist organisations and staff to more effectively engage with older people living in RAC about falls prevention and design targeted resources to address the motivations and preferences of this population.
With 30 threatened species (14 categorized as Critically Endangered and 16 as Endangered, sensu IUCN), Coccothrinax (c. 54 species) is the flagship palm genus for conservation in the Caribbean Island Biodiversity Hotspot. Coccothrinax has its centre of taxonomic diversity in these islands, with c. 51 endemic species. We present a conservation framework for the 14 Critically Endangered species, found in Cuba, Haiti or the Dominican Republic. Only two species (C. jimenezii, C. montana) occur in more than one country (Haiti and the Dominican Republic). Immediate threats include oil drilling and nickel mining, intrusion of saline water into soil, urban and agricultural development, low population recruitment, uncontrolled fires, interspecific hybridization, and unsustainable ethnobotanical practices. Coccothrinax bermudezii, C. borhidiana, C. crinita ssp. crinita, C. leonis and C. spissa are not conserved in protected areas. Coccothrinax bermudezii, C. jimenezii, C. leonis and C. nipensis are not part of ex situ collections. Based on results from a conservation project targeting C. jimenezii, we recommend international cooperation between the three range states to implement integrative conservation management plans, plant exploration initiatives, taxonomic revisions, outreach, and fundraising. The ultimate aim of this review is to provide baseline information that will develop conservation synergy among relevant parties working on Coccothrinax conservation in Cuba, Haiti and the Dominican Republic. Such collaborations could also benefit through partnerships with botanists working in other countries.
During 1990 we surveyed the southern sky using a multi-beam receiver at frequencies of 4850 and 843 MHz. The half-power beamwidths were 4 and 25 arcmin respectively. The finished surveys cover the declination range between +10 and −90 degrees declination, essentially complete in right ascension, an area of 7.30 steradians. Preliminary analysis of the 4850 MHz data indicates that we will achieve a five sigma flux density limit of about 30 mJy. We estimate that we will find between 80 000 and 90 000 new sources above this limit. This is a revised version of the paper presented at the Regional Meeting by the first four authors; the surveys now have been completed.
In this study, men and women were surveyed about their attitudes toward the use of white lies and other forms of benevolent deception in their romantic relationships. We predicted that people would be more accepting of telling lies than of having lies told to them. Furthermore, we predicted that women would be more accepting than men of benevolent deception in their romantic relationships. We found that people were more tolerant of telling benevolent lies than they were of being told such lies. However, we found that men, not women, were more accepting of benevolent deception in their relationships.
Scanning acoustic microscopy (SAM), when applied to biological samples has the potential to resolve the longitudinal acoustic wave speed and hence stiffness of discrete tissue components. The heterogeneity of biological materials combined with the action of cryosectioning and rehydrating can, however, create variations in section topography. Here, we set out to determine how variations in specimen thickness influence apparent acoustic wave speed measurements
Cryosections (5μm nominal thickness) of human skin biopsies were adhered to glass slides before washing and rehydrating in water. Multiple regions (200x200 μm; n = 3) were imaged by SAM to generate acoustic wave speed maps. Subsequently co-localised 30x30 μm sub-regions were imaged by atomic force microscopy (AFM) in fluid. The images were then registered using Image J. Each pixel was allocated both a height and wave speed value before their relationship was then plotted on a scattergram. The mean section thickness measured by AFM was 3.48 ± 1.12 (SD) μm. Regional height variations influenced apparent wave speed measurements. A 3.5 μm height difference was associated with a 400 ms-1 increase in wave speed. In the present study we show that local variations in specimen thickness influence apparent wave speed. We also show that a true measure of wave speed can be calculated if the thickness of the specimen is known at each sampling point.