Delay and poor diagnosis of Down syndrome in KwaZulu-Natal, South Africa: A retrospective review of postnatal cytogenetic testing

Background. Down syndrome (DS) is the most common chromosomal disorder in newborns. Until 20 years ago DS was considered rare in black African children in South Africa (SA). Lack of awareness of DS on the part of medical staff in SA, and difficulty in diagnosing it, appear to persist.Objectives. To establish an epidemiological profile of DS and investigate the ability of clinicians in KwaZulu-Natal Province (KZN), SA, to make accurate clinical diagnoses of DS.Methods. Records at the South African National Blood Service cytogenetic laboratory in Pinetown, KZN, were examined for all tests for clinically suspected DS undertaken during January 2009 - December 2013 and all cytogenetically proven DS test results. Age at diagnosis, the hospital from where the test was sent and type of chromosomal pattern for each confirmed DS test result were recorded.Results. Of a total of 1 578 tests requested, 875 confirmed DS, indicating that clinicians correctly clinically diagnosed DS 55.4% of the time. The average age of cytogenetic diagnosis of DS was 1 year and 20 days. The minimum population prevalence of DS was 0.8/1 000.Conclusions. The diagnosis of DS is a challenge in KZN, potentiating missed opportunities for early intervention. The relatively low population prevalence of DS may be attributable to a lack of confirmatory cytogenetic tests or missed clinical diagnoses. It may also be attributable to a high mortality rate for children with DS in the province

Distinguishing Molecular Characteristics of Aerosol Water Soluble Organic Matter from the 2011 Trans-North Atlantic US GEOTRACES Cruise

The molecular characteristics of aerosol organic matter (OM) determines to a large extent its impacts on the atmospheric radiative budget and ecosystem function in terrestrial and aquatic environments, yet the OM molecular details of aerosols from different sources are not well established. Aerosol particulate samples with North American-influenced, North African-influenced, and marine (minimal recent continental influence) air mass back trajectories were collected as part of the 2011 trans-North Atlantic US GEOTRACES cruise and analyzed for their water soluble OM (WSOM) molecular characteristics using electrospray ionization Fourier transform ion cyclotron resonance mass spectrometry. Principal component analysis (PCA) separated the samples into five groups defined by distinct molecular formula characteristics. An abundance of nitrogen containing compounds with molecular formulas consistent with amino acid derivatives defined the two samples comprising the primary marine group (henceforth referred to as Primary Marine), which suggest a primary marine biological source to their WSOM in spite of their North American-influenced air mass trajectories. A second group of samples (aged marine, henceforth referred to as Aged Marine) with marine air mass trajectories was characterized by an abundance of low O/C (0.15-0.45) sulfur containing compounds consistent with organosulfate compounds formed via secondary aging reactions in the atmosphere. Several samples having North American-influenced air mass trajectories formed another group again characterized by organosulfate and nitrooxyorganosulfate type compounds with higher O/C ratios (0.5-1.0) than the Aged Marine samples reflecting the combustion influence from the North American continent. All the samples with North African-influenced air mass trajectories were grouped together in the PCA and were characterized by a lack of heteroatom (N, S, P) containing molecular formulas covering a wide O/C range (0.15-0.90) reflecting the desert source of this WSOM. The two marine groups showed molecular formulas that, on average, had higher H/C ratios and lower O/C ratios and modified aromaticity indices than the two continentally influenced groups, which suggests that these properties are characteristic of marine vs. continental aerosol WSOM. The final sample group, the mixed source samples (henceforth referred to as Mixed Source), showed intermediate molecular characteristics, which suggests no dominant continental or marine source. The source-specific OM details described here will aid efforts to link aerosol OM source with molecular characteristics and impacts in the environment

Preparation for action: Psychophysiological activity preceding a motor skill as a function of expertise, performance outcome, and psychological pressure

Knowledge of the psychophysiological responses that characterize optimal motor performance is required to inform biofeedback interventions. This experiment compared cortical, cardiac, muscular, and kinematic activity in 10 experts and 10 novices as they performed golf putts in low- and high-pressure conditions. Results revealed that in the final seconds preceding movement, experts displayed a greater reduction in heart rate and EEG theta, high-alpha, and beta power, when compared to novices. EEG high-alpha power also predicted success, with participants producing less high-alpha power in the seconds preceding putts that were holed compared to those that were missed. Increased pressure had little impact on psychophysiological activity. It was concluded that greater reductions in EEG high-alpha power during preparation for action reflect more resources being devoted to response programming, and could underlie successful accuracy-based performance

Bowhead and Beluga Whale Distributions, Sighting Rates, and Habitat Associations in the Western Beaufort Sea in Summer and Fall 2009–16, with Comparison to 1982–91

We analyzed data from line-transect aerial surveys for marine mammals conducted in the western Beaufort Sea (shore to 72˚ N, 140˚–157˚ W) from July to October of 2009–16 to investigate the distribution, behaviors, sighting rates, and habitat use preferences of bowhead and beluga whales. The habitat use data allowed for direct comparison with data collected in the same area from 1982 to 1991. Both species are ice-adapted, migrating through leads in sea ice in spring, and are seasonal inhabitants of the western Beaufort Sea during summer and fall. From 2009 to 2016, bowheads were seen in all survey months, with the highest overall sighting rate (whales per km) in August. Bowhead sighting rates were highest in the whales’ preferred habitats: outer shelf habitat (51–200 m depth) in July and inner shelf-shallow habitat (≤ 20 m depth) in August, September, and October. Beluga whales were also seen in all survey months, with highest overall sighting rate in July. Beluga whales were overwhelmingly associated with continental slope habitat (201–2000 m depth) in all months. Bowhead distribution and depth preferences in summer months of 2009–16 differed from those observed in 1982–91, when bowheads were not seen during limited survey effort in July and preferred outer continental shelf habitat in August. These differences indicate that bowhead whale preference for shallow shelf habitat now occurs earlier in summer than it used to. Beluga distribution and depth preference remained similar between 1982–91 and 2009–16, with strong preference for continental slope during both periods. Differences in sea ice cover habitat association for both species are likely due more to the relative lack of sea ice in recent years compared to the earlier period than to shifts in habitat preference. Habitat partitioning between bowhead and beluga whales in the western Beaufort Sea remained evident except in July, when both species used continental slope habitat. In July – October 2009–16, the distribution, sighting rates, and behavior of both bowheads and belugas in the western Beaufort showed considerable interannual variation, which underscores the importance of annual sampling to accurate records of the complex western Beaufort Sea ecosystem.Nous avons analysé les données découlant de levés aériens de transects linéaires pour mammifères marins, levés effectués dans l’ouest de la mer de Beaufort (de la rive jusqu’à 72˚ N, et de 140˚ jusqu’à 157˚ O) de juillet à octobre 2009 à 2016. Ces levés avaient pour but d’étudier la distribution, les comportements, les taux d’observation ainsi que les préférences d’utilisation de l’habitat des baleines boréales et des bélugas. Les données relatives à l’utilisation de l’habitat ont permis d’établir des comparaisons directes avec les données recueillies dans le même secteur de 1982 à 1991. Ces deux espèces sont adaptées à la glace, migrent par des chenaux formés dans la glace de mer au printemps et sont des habitants saisonniers de l’ouest de la mer de Beaufort pendant l’été et l’automne. Entre 2009 et 2016, des baleines boréales ont été aperçues pendant tous les mois visés par les levés, le taux d’observation général le plus élevé (nombre de baleines par km) ayant été enregistré au mois d’août. Les taux d’observation des baleines boréales étaient les plus élevés dans les habitats préférés de ces baleines, soit l’habitat de la plateforme externe (de 51 m à 200 m de profondeur) en juillet et l’habitat de la plateforme interne peu profonde (≤ 20 m de profondeur) en août, en septembre et en octobre. Des bélugas ont également été aperçus pendant tous les mois visés par les levés, le taux d’observation général le plus élevé ayant été enregistré en juillet. Les bélugas étaient massivement associés à l’habitat de la pente continentale (de 201 m à 2 000 m de profondeur) pendant tous les mois. La distribution et les préférences de profondeur des baleines boréales pendant les mois d’été 2009 à 2016 différaient de celles observées de 1982 à 1991, lorsque les baleines boréales n’ont pas été aperçues dans le cadre des quelques levés qui ont été effectués en juillet et préféraient leur habitat de la plateforme continentale externe en août. Ces différences indiquent que la préférence des baleines boréales pour l’habitat de la plateforme peu profonde se manifeste maintenant plus tôt l’été qu’auparavant. De 1982 à 1991 et de 2009 à 2016, la distribution des bélugas et leur préférence de profondeur sont restées semblables, avec une préférence marquée pour la pente continentale pendant les deux périodes. Pour les deux espèces, les différences sur le plan de l’association de la couverture de glace marine sont vraisemblablement davantage attribuables au manque relatif de glace de mer ces dernières années comparativement à la période précédente plutôt qu’à une variation de la préférence de l’habitat. Dans l’ouest de la mer de Beaufort, la séparation de l’habitat entre les baleines boréales et les bélugas demeurait évidente, sauf en juillet, quand les deux espèces utilisaient l’habitat de la pente continentale. De juillet à octobre 2009 à 2016, la distribution, les taux d’observation et le comportement des baleines boréales et des bélugas dans l’ouest de la mer de Beaufort ont affiché une variation considérable d’une année à l’autre, ce qui fait ressortir l’importance de faire des échantillonnages annuels afin d’obtenir des données précises au sujet de l’écosystème complexe de l’ouest de la mer de Beaufort

Premovement high-alpha power is modulated by previous movement errors: Indirect evidence to endorse high-alpha power as a marker of resource allocation during motor programming

Previous electroencephalographic studies have identified premovement high-alpha power as a predictor of movement accuracy; less frontal-central high-alpha power is associated with accurate movements (e.g., holed golf putts), and could reflect more cognitive resources being allocated to response programming. The present experiment tested this interpretation. Ten expert and ten novice golfers completed 120 putts while high-alpha power was recorded and analyzed as a function of whether the previous putt was holed (i.e., a correct response) or missed (i.e., an error). Existing evidence indicates that more resources are allocated to response programming following errors. We observed less premovement high-alpha power following errors, especially in experts. Our findings provide indirect evidence that high-alpha power is an inverse marker of the amount of resources allocated to motor response programmin

Current Problems in Securities Regulation

This comment analyzes four areas of central significance to adequate protection for the investor: (1) qualifications of those in the securities industry who deal with the public; (2) dissemination of corporate publicity; (3) dissemination of investment advice; and (4) selling practices in the securities industry. The findings and recommendations of the Special Study are given special attention insofar as they bear upon the problems covered. In certain areas, however, recent developments in court and Commission decisions have brought about changes equally as significant as the findings and recommendations of the Special Study. Thus each section covers the background and recent developments in the designated area, as well as the Special Study itself

Introduction

What are the strategies, modalities and aspirations of island-based, stateless nationalist and regionalist parties in the twenty-first century? Political independence is now easier to achieve, even by the smallest of territories; yet, it is not so likely to be pursued with any vigour by the world's various persisting sub-national (and mainly island) jurisdictions. Theirs is a pursuit of different expressions of sub-national autonomy, stopping short of independence. And yet, a number of independence referenda are scheduled, including one looming in Scotland in autumn 2014

Intellectual property management and technological entrepreneurship

This paper investigates the distinctive technology protection strategies of entrepreneurial technology firms. In contrast with much popular opinion, it is reported that intellectual property features more prominently in the business of small entrepreneurial firms than it does in the business of large, established mature firms. The intellectual property portfolios of technology firms of all sizes and ages exhibit a rich array of instruments in addition to patents for protecting technology, including trade secrets, trademarks and copyright, together with licenses to externally sourced technology. The intellectual property profiles of technology firms appear to be influenced by their context, organizational profiles and corporate goals and by the character of their technology

Multi-vehicle Control in a Strong Flowfield with Application to Hurricane Sampling

A major obstacle to path-planning and formation-control algorithms in multi-vehicle systems are strong flows in which the ambient flow speed is greater than the vehicle speed relative to the flow. This challenge is espe-cially pertinent in the application of unmanned aircraft used for collecting targeted observations in a hurricane. The presence of such a flowfield may inhibit a vehicle from making forward progress relative to a ground-fixed frame, thus limiting the directions in which it can travel. Using a self-propelled particle model in which each particle moves at constant speed relative to the flow, this paper presents results for motion coordination in a strong, known flowfield. We present the particle model with respect to inertial and rotating reference frames and provide for each case a set of con-ditions on the flowfield that ensure trajectory feasibility. Results from the Lyapunov-based design of decentralized control algorithms are presented for circular, folium, and spirograph trajectories, which are selected for their potential use as hurricane sampling trajectories. The theoretical results are illustrated using numerical simulations in an idealized hurricane model. Nomenclature N Number of particles in the system k Particle index k = 1,..., N rk Position of k th particle with respect to inertial frame r̃k Position of k th particle with respect to rotating fram

Effects of ingesting JavaFit Energy Extreme functional coffee on aerobic and anaerobic fitness markers in recreationally-active coffee consumers

The purpose of this study was to examine the effects of ingesting JavaFit™ Energy Extreme (JEE) on aerobic and anaerobic performance measures in recreationally-active male and female coffee drinkers. Five male (27.6 ± 4.2 yrs, 93.2 ± 11.7 kg, 181.6 ± 6.9 cm) and five female (29 ± 4.6 yrs, 61.5 ± 9.2 kg, 167.6 ± 6.9 cm) regular coffee drinkers (i.e., 223.9 ± 62.7 mg·d(-1 )of caffeine) participated in this study. In a cross-over, randomized design, participants performed a baseline (BASELINE) graded treadmill test (GXT) for peak VO(2 )assessment and a Wingate test for peak power. Approximately 3–4 d following BASELINE testing, participants returned to the lab for the first trial and ingested 354 ml of either JEE or decaffeinated coffee (DECAF), after which they performed a GXT and Wingate test. Criterion measures during the GXT included an assessment of peakVO(2 )at maximal exercise, as well as VO(2 )at 3 minutes and 10 minutes post-exercise. Additionally, time-to-exhaustion (TTE), maximal RPE, mean heart rate (HR), mean systolic pressure (SBP), and mean diastolic blood pressure (DBP) were measured during each condition. Criterion measures for the Wingate included mean HR, SBP, DBP, peak power, and time to peak power (TTP). Participants then returned to the lab approximately one week later to perform the second trial under the same conditions as the first, except consuming the remaining coffee. Data were analyzed using a one way ANOVA (p < 0.05). Our results indicate that JEE significantly increased VO(2 )at 3 minutes post-exercise when compared to BASELINE (p = 0.04) and DECAF (p = 0.02) values, which may be beneficial in enhancing post-exercise fat metabolism