Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis

Background: Cell-free fetal DNA (cffDNA) can be detected in maternal blood during pregnancy, opening the possibility of early non-invasive prenatal diagnosis for a variety of genetic conditions. Since 1997, many studies have examined the accuracy of prenatal fetal sex determination using cffDNA, particularly for pregnancies at risk of an X-linked condition. Here we report a review and meta-analysis of the published literature to evaluate the use of cffDNA for prenatal determination (diagnosis) of fetal sex. We applied a sensitive search of multiple bibliographic databases including PubMed (MEDLINE), EMBASE, the Cochrane library and Web of Science. Results: Ninety studies, incorporating 9,965 pregnancies and 10,587 fetal sex results met our inclusion criteria. Overall mean sensitivity was 96.6% (95% credible interval 95.2% to 97.7%) and mean specificity was 98.9% (95% CI = 98.1% to 99.4%). These results vary very little with trimester or week of testing, indicating that the performance of the test is reliably high. Conclusions: Based on this review and meta-analysis we conclude that fetal sex can be determined with a high level of accuracy by analyzing cffDNA. Using cffDNA in prenatal diagnosis to replace or complement existing invasive methods can remove or reduce the risk of miscarriage. Future work should concentrate on the economic and ethical considerations of implementing an early non-invasive test for fetal sex

Standing Balance Stability and the Effects of Light Touch in Adults With Profound Loss of Vision-An Exploratory Study

Purpose: We evaluated the postural stability of adults with inherited profound vision loss and examined the effects of touch on their balance control. Methods: A total of 11 severely-sight impaired patients (mean [SD] age, 51.6 [5.3] years) and 11 control subjects (mean age, 49.7 [5.3] years) participated. Postural stability was measured using a force-balance platform eyes open/closed on a firm/foam surface under 3 test conditions: no touch, light touch, and unrestricted touch (UT), where "touch" involved placing their index finger on a rigid table. Average magnitude of center of foot pressure displacement was calculated. A somatosensory ratio (SR) was used to evaluate the somatosensory contribution to balance. A repeated measures ANOVA was used to investigate the effects of touch on standing balance. Results: Patients had a significantly increased SR compared to control subjects (mean [SD] SR controls = 1.2 [0.2], patients = 1.9 [0.5]; P < 0.01). There was a significant effect of touch, vision, and surface on balance control ("touch" F = 68.1, P < 0.01; "vision" F = 20.1, P < 0.01; "surface" F = 200.8, P < 0.01). Light touch attenuated sway in patients and controls. The effects were greater in controls when their vision was removed, and greater in patients when their somatosensory system was disrupted. Light touch was as effective as UT in attenuating sway. Conclusions: The results of this exploratory study suggest that patients with severe sight impairment show an increased somatosensory contribution to balance control compared to their normally sighted counterparts. Light touch significantly reduces sway amplitude in severely sight impaired adults when standing on the foam surface, that is, when the somatosensory system is perturbed

No Detectable Fertility Benefit from a Single Additional Mating in Wild Stalk-Eyed Flies

Background: Multiple mating by female insects is widespread, and the explanation(s) for repeated mating by females has been the subject of much discussion. Females may profit from mating multiply through direct material benefits that increase their own reproductive output, or indirect genetic benefits that increase offspring fitness. One particular direct benefit that has attracted significant attention is that of fertility assurance, as females often need to mate multiply to achieve high fertility. This hypothesis has never been tested in a wild insect population.Methodology/Principal Findings: Female Malaysian stalk-eyed flies (Teleopsis dalmanni) mate repeatedly during their lifetime, and have been shown to be sperm limited under both laboratory and field conditions. Here we ask whether receiving an additional mating alleviates sperm limitation in wild females. In our experiment one group of females received a single additional mating, while a control group received an interrupted, and therefore unsuccessful, mating. Females that received an additional mating did not lay more fertilised eggs in total, nor did they lay proportionately more fertilised eggs. Female fertility declined significantly through time, demonstrating that females were sperm limited. However, receipt of an additional mating did not significantly alter the rate of this decline.Conclusions/Significance: Our data suggest that the fertility consequences of a single additional mating were small. We discuss this effect (or lack thereof), and suggest that it is likely to be attributed to small ejaculate size, a high proportion of failed copulations, and the presence of X-linked meiotic drive in this species

Ultraluminous Infrared Galaxies

At luminosities above ~10^{11} L_sun, infrared galaxies become the dominant population of extragalactic objects in the local Universe (z < 0.5), being more numerous than optically selected starburst and Seyfert galaxies, and QSOs at comparable bolometric luminosity. At the highest luminosities, ultraluminous infrared galaxies (ULIGs: L_ir > 10^{12} L_sun), outnumber optically selected QSOs by a factor of ~1.5-2. All of the nearest ULIGs (z < 0.1) appear to be advanced mergers that are powered by both a circumnuclear starburst and AGN, both of which are fueled by an enormous concentration of molecular gas (~10^{10} M_sun) that has been funneled into the merger nucleus. ULIGs may represent a primary stage in the formation of massive black holes and elliptical galaxy cores. The intense circumnuclear starburst that accompanies the ULIG phase may also represent a primary stage in the formation of globular clusters, and the metal enrichment of the intergalactic medium by gas and dust expelled from the nucleus due to the combined forces of supernova explosions and powerful stellar winds.Comment: LaTex, 6 pages with 4 embedded .eps figures. Postscript version plus color plates available at http://www.ifa.hawaii.edu/users/sanders/astroph/s186/plates.html To appear in "Galaxy Interactions at Low and High Redshift" IAU Symposium 186, Kyoto, Japan, eds. J.E. Barnes and D.B. Sander

An investigation of supervector regression for forensic voice comparison on small data

International audienceThe present paper deals with an observer design for a nonlinear lateral vehicle model. The nonlinear model is represented by an exact Takagi-Sugeno (TS) model via the sector nonlinearity transformation. A proportional multiple integral observer (PMIO) based on the TS model is designed to estimate simultaneously the state vector and the unknown input (road curvature). The convergence conditions of the estimation error are expressed under LMI formulation using the Lyapunov theory which guaranties bounded error. Simulations are carried out and experimental results are provided to illustrate the proposed observer

Time-dependent response of a zonally averaged ocean–atmosphere–sea ice model to Milankovitch forcing

Author Posting. © The Author(s), 2010. This is the author's version of the work. It is posted here by permission of Springer-Verlag for personal use, not for redistribution. The definitive version was published in Climate Dynamics 6 (2010): 763-779, doi:10.1007/s00382-010-0790-6.An ocean-atmosphere-sea ice model is developed to explore the time-dependent response of climate to Milankovitch forcing for the time interval 5-3 Myr BP. The ocean component is a zonally averaged model of the circulation in five basins (Arctic, Atlantic, Indian, Pacific, and Southern Oceans). The atmospheric component is a one-dimensional (latitudinal) energy balance model, and the sea-ice component is a thermodynamic model. Two numerical experiments are conducted. The first experiment does not include sea ice and the Arctic Ocean; the second experiment does. Results from the two experiments are used to investigate (i) the response of annual mean surface air and ocean temperatures to Milankovitch forcing, and (ii) the role of sea ice in this response. In both experiments, the response of air temperature is dominated by obliquity cycles at most latitudes. On the other hand, the response of ocean temperature varies with latitude and depth. Deep water formed between 45°N-65°N in the Atlantic Ocean mainly responds to precession. In contrast, deep water formed south of 60°S responds to obliquity when sea ice is not included. Sea ice acts as a time-integrator of summer insolation changes such that annual mean sea-ice conditions mainly respond to obliquity. Thus, in the presence of sea ice, air temperature changes over the sea ice are amplified, and temperature changes in deep water of southern origin are suppressed since water below sea ice is kept near the freezing point.This work was supported by an NSERC Discovery Grant awarded to L.A.M. We also thank GEC3 for a Network Grant

Solar-type dynamo behaviour in fully convective stars without a tachocline

In solar-type stars (with radiative cores and convective envelopes), the magnetic field powers star spots, flares and other solar phenomena, as well as chromospheric and coronal emission at ultraviolet to X-ray wavelengths. The dynamo responsible for generating the field depends on the shearing of internal magnetic fields by differential rotation. The shearing has long been thought to take place in a boundary layer known as the tachocline between the radiative core and the convective envelope. Fully convective stars do not have a tachocline and their dynamo mechanism is expected to be very different, although its exact form and physical dependencies are not known. Here we report observations of four fully convective stars whose X-ray emission correlates with their rotation periods in the same way as in Sun-like stars. As the X-ray activity - rotation relationship is a well-established proxy for the behaviour of the magnetic dynamo, these results imply that fully convective stars also operate a solar-type dynamo. The lack of a tachocline in fully convective stars therefore suggests that this is not a critical ingredient in the solar dynamo and supports models in which the dynamo originates throughout the convection zone.Comment: 6 pages, 1 figure. Accepted for publication in Nature (28 July 2016). Author's version, including Method

The use of biomedicine, complementary and alternative medicine, and ethnomedicine for the treatment of epilepsy among people of South Asian origin in the UK

Studies have shown that a significant proportion of people with epilepsy use complementary and alternative medicine (CAM). CAM use is known to vary between different ethnic groups and cultural contexts; however, little attention has been devoted to inter-ethnic differences within the UK population. We studied the use of biomedicine, complementary and alternative medicine, and ethnomedicine in a sample of people with epilepsy of South Asian origin living in the north of England. Interviews were conducted with 30 people of South Asian origin and 16 carers drawn from a sampling frame of patients over 18 years old with epilepsy, compiled from epilepsy registers and hospital databases. All interviews were tape-recorded, translated if required and transcribed. A framework approach was adopted to analyse the data. All those interviewed were taking conventional anti-epileptic drugs. Most had also sought help from traditional South Asian practitioners, but only two people had tried conventional CAM. Decisions to consult a traditional healer were taken by families rather than by individuals with epilepsy. Those who made the decision to consult a traditional healer were usually older family members and their motivations and perceptions of safety and efficacy often differed from those of the recipients of the treatment. No-one had discussed the use of traditional therapies with their doctor. The patterns observed in the UK mirrored those reported among people with epilepsy in India and Pakistan. The health care-seeking behaviour of study participants, although mainly confined within the ethnomedicine sector, shared much in common with that of people who use global CAM. The appeal of traditional therapies lay in their religious and moral legitimacy within the South Asian community, especially to the older generation who were disproportionately influential in the determination of treatment choices. As a second generation made up of people of Pakistani origin born in the UK reach the age when they are the influential decision makers in their families, resort to traditional therapies may decline. People had long experience of navigating plural systems of health care and avoided potential conflict by maintaining strict separation between different sectors. Health care practitioners need to approach these issues with sensitivity and to regard traditional healers as potential allies, rather than competitors or quacks

The BpTRU automatic blood pressure monitor compared to 24 hour ambulatory blood pressure monitoring in the assessment of blood pressure in patients with hypertension

BACKGROUND: Increasing evidence suggests that ABPM more closely predicts target organ damage than does clinic measurement. Future guidelines may suggest ABPM as routine in the diagnosis and monitoring of hypertension. This would create difficulties as this test is expensive and often difficult to obtain. The purpose of this study is to determine the degree to which the BpTRU automatic blood pressure monitor predicts results on 24 hour ambulatory blood pressure monitoring (ABPM). METHODS: A quantitative analysis comparing blood pressure measured by the BpTRU device with the mean daytime blood pressure on 24 hour ABPM. The study was conducted by the Centre for Studies in Primary Care, Queen's University, Kingston, Ontario, Canada on adult primary care patients who are enrolled in two randomized controlled trials on hypertension. The main outcomes were the mean of the blood pressures measured at the three most recent office visits, the initial measurement on the BpTRU-100, the mean of the five measurements on the BpTRU monitor, and the daytime average on 24 hour ABPM. RESULTS: The group mean of the three charted clinic measured blood pressures (150.8 (SD10.26) / 82.9 (SD 8.44)) was not statistically different from the group mean of the initial reading on BpTRU (150.0 (SD21.33) / 83.3 (SD12.00)). The group mean of the average of five BpTRU readings (140.0 (SD17.71) / 79.8 (SD 10.46)) was not statistically different from the 24 hour daytime mean on ABPM (141.5 (SD 13.25) / 79.7 (SD 7.79)). Within patients, BpTRU average correlated significantly better with daytime ambulatory pressure than did clinic averages (BpTRU r = 0.571, clinic r = 0.145). Based on assessment of sensitivity and specificity at different cut-points, it is suggested that the initial treatment target using the BpTRU be set at <135/85 mmHG, but achievement of target should be confirmed using 24 hour ABPM. CONCLUSION: The BpTRU average better predicts ABPM than does the average of the blood pressures recorded on the patient chart from the three most recent visits. The BpTRU automatic clinic blood pressure monitor should be used as an adjunct to ABPM to effectively diagnose and monitor hypertension